#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
HPSE2	60495	broad.mit.edu	37	10	100904120	100904120	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:100904120T>G	ENST00000370552.3	-	3	544	c.485A>C	c.(484-486)aAa>aCa	p.K162T	HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370549.1_Missense_Mutation_p.K162T|HPSE2_ENST00000370546.1_Missense_Mutation_p.K162T	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	162					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)	p.K162T(2)		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)		CTTGCAGCCTTTCTGTTTATC	0.403																																					p.K162T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A485C	10						.						105.0	105.0	105.0					10																	100904120		2203	4300	6503	100894110	SO:0001583	missense	60495	exon3			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.485A>C	10.37:g.100904120T>G	ENSP00000359583:p.Lys162Thr		100894110	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367075	0.82463	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546	T;T;T	0.27557	7.17;1.66;7.17	5.81	5.81	0.92471	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	L	0.51422	1.61	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.994;0.994;0.987	T	0.35251	-0.9796	10	0.32370	T	0.25	-5.683	16.1498	0.81605	0.0:0.0:0.0:1.0	.	162;162;162	Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	T	162	ENSP00000359583:K162T;ENSP00000359580:K162T;ENSP00000359577:K162T	ENSP00000359577:K162T	K	-	2	0	HPSE2	100894110	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.552000	0.82192	2.216000	0.71823	0.528000	0.53228	AAA		0.403	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
HPSE2	60495	broad.mit.edu	37	10	100995386	100995386	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:100995386C>A	ENST00000370552.3	-	1	233	c.174G>T	c.(172-174)aaG>aaT	p.K58N	HPSE2_ENST00000404542.1_Missense_Mutation_p.K58N|HPSE2_ENST00000370549.1_Missense_Mutation_p.K58N|HPSE2_ENST00000370546.1_Missense_Mutation_p.K58N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	58					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)	p.K58N(6)		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)		GAATCAGGGTCTTTTCCTTCA	0.522																																					p.K58N												.	.	6	Substitution - Missense(6)	large_intestine(6)	c.G174T	10						.						180.0	178.0	179.0					10																	100995386		2203	4300	6503	100985376	SO:0001583	missense	60495	exon1			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.174G>T	10.37:g.100995386C>A	ENSP00000359583:p.Lys58Asn		100985376	NM_001166246	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869121	0.32977	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.00477	7.14;7.14;7.14;7.14	5.8	5.8	0.92144	.	0.052749	0.64402	D	0.000001	T	0.00328	0.0010	N	0.14661	0.345	0.30882	N	0.731298	P;P;P;P	0.40731	0.557;0.728;0.59;0.455	B;B;B;B	0.38803	0.221;0.282;0.282;0.146	T	0.70619	-0.4822	10	0.35671	T	0.21	-12.1322	15.1633	0.72801	0.0:0.9311:0.0:0.0689	.	58;58;58;58	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	N	58	ENSP00000359583:K58N;ENSP00000359580:K58N;ENSP00000359577:K58N;ENSP00000384384:K58N	ENSP00000359577:K58N	K	-	3	2	HPSE2	100985376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.374000	0.44274	2.758000	0.94735	0.561000	0.74099	AAG		0.522	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
CNNM1	26507	broad.mit.edu	37	10	101147915	101147915	+	Missense_Mutation	SNP	G	G	A	rs143111634		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:101147915G>A	ENST00000356713.4	+	9	2820	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	CNNM1_ENST00000446890.1_Missense_Mutation_p.R773H|CNNM1_ENST00000370534.4_Missense_Mutation_p.R500H|CNNM1_ENST00000370528.3_Intron	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	844					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.R844H(1)|p.R479H(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCAGGCAGCCGCTCAGACGGG	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20852	0.0		0.0	False		,,,				2504	0.0				p.R844H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2531A	10						.	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	63.0	58.0	59.0		2531	2.8	1.0	10	dbSNP_134	59	0,8600		0,0,4300	no	missense	CNNM1	NM_020348.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	844/952	101147915	2,13004	2203	4300	6503	101137905	SO:0001583	missense	26507	exon9			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2531G>A	10.37:g.101147915G>A	ENSP00000349147:p.Arg844His		101137905	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	7.721	0.697159	0.15106	4.54E-4	0.0	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370534;ENST00000545665	T;T;T	0.76578	-1.03;-1.03;-1.03	4.67	2.82	0.32997	.	0.239398	0.28109	N	0.016580	T	0.64638	0.2616	L	0.36672	1.1	0.29945	N	0.820731	B;B	0.13145	0.007;0.003	B;B	0.06405	0.002;0.002	T	0.56643	-0.7945	10	0.33940	T	0.23	-26.0388	7.8386	0.29384	0.2637:0.0:0.7363:0.0	.	500;844	F5H5J0;Q9NRU3	.;CNNM1_HUMAN	H	844;773;500;297	ENSP00000349147:R844H;ENSP00000406492:R773H;ENSP00000359565:R500H	ENSP00000349147:R844H	R	+	2	0	CNNM1	101137905	0.973000	0.33851	0.957000	0.39632	0.127000	0.20565	1.873000	0.39558	0.520000	0.28426	-0.244000	0.11960	CGC		0.597	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	
ENTPD7	57089	broad.mit.edu	37	10	101439068	101439068	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:101439068A>C	ENST00000370489.4	+	4	420	c.242A>C	c.(241-243)aAt>aCt	p.N81T		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	81						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.N81T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GAAGACCCAAATCTGAATTAT	0.458																																					p.N81T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A242C	10						.						111.0	115.0	114.0					10																	101439068		2203	4300	6503	101429058	SO:0001583	missense	57089	exon4			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.242A>C	10.37:g.101439068A>C	ENSP00000359520:p.Asn81Thr		101429058	NM_020354	B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.432393	0.25813	.	.	ENSG00000198018	ENST00000370489	T	0.12879	2.64	5.26	2.89	0.33648	.	0.376195	0.29293	N	0.012567	T	0.09949	0.0244	L	0.39245	1.2	0.09310	N	1	B	0.12630	0.006	B	0.20577	0.03	T	0.34104	-0.9842	10	0.14252	T	0.57	-7.5313	7.7312	0.28788	0.5603:0.3586:0.081:0.0	.	81	Q9NQZ7	ENTP7_HUMAN	T	81	ENSP00000359520:N81T	ENSP00000359520:N81T	N	+	2	0	ENTPD7	101429058	0.000000	0.05858	0.998000	0.56505	0.904000	0.53231	0.127000	0.15790	1.015000	0.39444	0.533000	0.62120	AAT		0.458	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354	
ENTPD7	57089	broad.mit.edu	37	10	101455842	101455842	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:101455842G>A	ENST00000370489.4	+	9	1151	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	325						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.E325K(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCAGCGCTACGAAGACCTTGT	0.438																																					p.E325K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G973A	10						.						99.0	94.0	95.0					10																	101455842		2203	4300	6503	101445832	SO:0001583	missense	57089	exon9			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.973G>A	10.37:g.101455842G>A	ENSP00000359520:p.Glu325Lys		101445832	NM_020354	B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021976	0.54576	.	.	ENSG00000198018	ENST00000370489	T	0.11930	2.73	4.75	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	M	0.73598	2.24	0.58432	D	0.999998	D	0.57257	0.979	P	0.55112	0.769	T	0.07597	-1.0764	10	0.29301	T	0.29	-19.207	14.6583	0.68850	0.0:0.0:0.8533:0.1467	.	325	Q9NQZ7	ENTP7_HUMAN	K	325	ENSP00000359520:E325K	ENSP00000359520:E325K	E	+	1	0	ENTPD7	101445832	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	7.771000	0.85420	1.339000	0.45563	-0.282000	0.10007	GAA		0.438	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354	
COX15	1355	broad.mit.edu	37	10	101489326	101489326	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:101489326G>T	ENST00000016171.5	-	2	306	c.256C>A	c.(256-258)Ctt>Att	p.L86I	CUTC_ENST00000370476.5_5'Flank|CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.L86I			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	86					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.L86I(2)		endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		ACTCCACCAAGAATAACTGCT	0.488																																					p.L86I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C256A	10						.						105.0	111.0	109.0					10																	101489326		2203	4300	6503	101479316	SO:0001583	missense	1355	exon2			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.256C>A	10.37:g.101489326G>T	ENSP00000016171:p.Leu86Ile		101479316	NM_004376	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775113	0.70107	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.83673	-1.75;-1.75	4.45	4.45	0.53987	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.83797	0.5332	N	0.25485	0.75	0.80722	D	1	P;P	0.45827	0.867;0.737	P;P	0.57548	0.54;0.823	D	0.84180	0.0439	10	0.42905	T	0.14	-15.0835	17.2268	0.86972	0.0:0.0:1.0:0.0	.	86;86	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	I	86	ENSP00000359514:L86I;ENSP00000016171:L86I	ENSP00000016171:L86I	L	-	1	0	COX15	101479316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.082000	0.64450	2.484000	0.83849	0.555000	0.69702	CTT		0.488	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870	
ABCC2	1244	broad.mit.edu	37	10	101551996	101551996	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:101551996C>T	ENST00000370449.4	+	3	326	c.213C>T	c.(211-213)ttC>ttT	p.F71F	ABCC2_ENST00000370434.1_Silent_p.F71F	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	71					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.F71F(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTCAGGTATTCGTTGGTTTTC	0.433																																					p.F71F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C213T	10						.						126.0	123.0	124.0					10																	101551996		2203	4300	6503	101541986	SO:0001819	synonymous_variant	1244	exon3			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.213C>T	10.37:g.101551996C>T			101541986	NM_000392	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	CCDS7484.1																																																																																				0.433	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
DNMBP	23268	broad.mit.edu	37	10	101716439	101716439	+	Silent	SNP	G	G	A	rs139271365		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:101716439G>A	ENST00000324109.4	-	4	883	c.792C>T	c.(790-792)ttC>ttT	p.F264F	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.F264F	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	264	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F264F(2)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCCCGACCTCGAAATCCAGCT	0.552																																					p.F264F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|skin(1)	c.C792T	10						.			2,4404	4.2+/-10.8	0,2,2201	76.0	76.0	76.0		792	-3.2	0.8	10	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	DNMBP	NM_015221.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		264/1578	101716439	2,13004	2203	4300	6503	101706429	SO:0001819	synonymous_variant	23268	exon4			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.792C>T	10.37:g.101716439G>A			101706429	NM_015221	Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	CCDS7485.1																																																																																				0.552	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
PKD2L1	9033	broad.mit.edu	37	10	102054770	102054770	+	Silent	SNP	G	G	A	rs200756257		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:102054770G>A	ENST00000318222.3	-	8	1849	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	PKD2L1_ENST00000353274.3_Silent_p.F489F|PKD2L1_ENST00000338519.3_Silent_p.F414F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	489					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.F489F(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGGCATAGGCGAAGAAAACAA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22086	0.0		0.0	False		,,,				2504	0.0				p.F489F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1467T	10						.						137.0	128.0	131.0					10																	102054770		2203	4300	6503	102044760	SO:0001819	synonymous_variant	9033	exon8			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1467C>T	10.37:g.102054770G>A			102044760	NM_016112	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	CCDS7492.1																																																																																				0.532	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	
C10orf76	79591	broad.mit.edu	37	10	103769756	103769756	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:103769756C>T	ENST00000370033.4	-	12	975	c.856G>A	c.(856-858)Gcc>Acc	p.A286T		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	286						integral component of membrane (GO:0016021)		p.A286T(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTCTCATGGGCATCTGCTATG	0.458																																					p.A286T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G856A	10						.						115.0	118.0	117.0					10																	103769756		1940	4152	6092	103759746	SO:0001583	missense	79591	exon12			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.856G>A	10.37:g.103769756C>T	ENSP00000359050:p.Ala286Thr		103759746	NM_024541	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	ENST00000370033.4	37	CCDS41563.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047943	0.55110	.	.	ENSG00000120029	ENST00000370033	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	L	0.34521	1.04	0.80722	D	1	B	0.24882	0.113	B	0.14578	0.011	T	0.46925	-0.9156	9	0.15066	T	0.55	-10.1827	19.5603	0.95369	0.0:1.0:0.0:0.0	.	286	Q5T2E6	CJ076_HUMAN	T	286	.	ENSP00000359050:A286T	A	-	1	0	C10orf76	103759746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.618000	0.74214	2.611000	0.88343	0.563000	0.77884	GCC		0.458	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541	
LDB1	8861	broad.mit.edu	37	10	103867963	103867963	+	Missense_Mutation	SNP	C	C	T	rs531176307		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:103867963C>T	ENST00000425280.1	-	11	1465	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	LDB1_ENST00000490751.1_5'Flank|LDB1_ENST00000361198.5_Missense_Mutation_p.E339K	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	375					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.E339K(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		AAGCTGTCCTCGTCGTCAATG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16271	0.0		0.0	False		,,,				2504	0.001				p.E375K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1123A	10						.						195.0	155.0	169.0					10																	103867963		2203	4300	6503	103857953	SO:0001583	missense	8861	exon11			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1123G>A	10.37:g.103867963C>T	ENSP00000392466:p.Glu375Lys		103857953	NM_001113407	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	ENST00000425280.1	37	CCDS44472.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126940	0.94429	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	T;T	0.57907	0.37;0.37	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.64997	1.995	0.80722	D	1	D	0.61697	0.99	B	0.38616	0.277	T	0.50701	-0.8797	10	0.16896	T	0.51	5.1559	19.3761	0.94510	0.0:1.0:0.0:0.0	.	375	Q86U70	LDB1_HUMAN	K	339;375	ENSP00000354616:E339K;ENSP00000392466:E375K	ENSP00000354616:E339K	E	-	1	0	LDB1	103857953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.683000	0.91414	0.455000	0.32223	GAG		0.617	LDB1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001113407	
NOLC1	9221	broad.mit.edu	37	10	103919775	103919775	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:103919775G>T	ENST00000605788.1	+	8	1217	c.982G>T	c.(982-984)Gag>Tag	p.E328*	NOLC1_ENST00000488254.2_Nonsense_Mutation_p.E329*|NOLC1_ENST00000405356.1_Nonsense_Mutation_p.E338*|NOLC1_ENST00000603742.1_Nonsense_Mutation_p.E47*	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	328	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.E328*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CAGCAGTGATGAGTCTGGTGA	0.572																																					p.E328X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G982T	10						.						46.0	46.0	46.0					10																	103919775		2203	4300	6503	103909765	SO:0001587	stop_gained	9221	exon8			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.982G>T	10.37:g.103919775G>T	ENSP00000474710:p.Glu328*		103909765	NM_004741	Q15030|Q5VV70|Q9BUV3	Nonsense_Mutation	SNP	ENST00000605788.1	37	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740477	0.96873	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	.	.	.	5.85	5.85	0.93711	.	0.523932	0.18605	N	0.136333	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-22.6266	19.1244	0.93376	0.0:0.0:1.0:0.0	.	.	.	.	X	338;328	.	ENSP00000359024:E328X	E	+	1	0	NOLC1	103909765	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	5.287000	0.65645	2.941000	0.99782	0.655000	0.94253	GAG		0.572	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741	
NOLC1	9221	broad.mit.edu	37	10	103921618	103921618	+	Missense_Mutation	SNP	G	G	A	rs554186651		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:103921618G>A	ENST00000605788.1	+	12	2112	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	NOLC1_ENST00000488254.2_Missense_Mutation_p.R627Q|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000405356.1_Missense_Mutation_p.R636Q|NOLC1_ENST00000603742.1_Missense_Mutation_p.R345Q	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	626					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.R626L(1)|p.R626Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TCCCCATTCCGAAGGGTCAGG	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21406	0.0		0.0	False		,,,				2504	0.0				p.R626Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1877A	10						.						73.0	70.0	71.0					10																	103921618		2203	4300	6503	103911608	SO:0001583	missense	9221	exon12			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1877G>A	10.37:g.103921618G>A	ENSP00000474710:p.Arg626Gln		103911608	NM_004741	Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	G	36	5.843718	0.97016	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.35048	1.33	5.84	5.84	0.93424	SRP40, C-terminal (1);	0.000000	0.50627	D	0.000118	T	0.57666	0.2069	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.978;0.978;0.995	T	0.56649	-0.7944	10	0.72032	D	0.01	-6.015	18.3239	0.90247	0.0:0.0:1.0:0.0	.	627;636;626	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	Q	636;626	ENSP00000385410:R636Q	ENSP00000359024:R626Q	R	+	2	0	NOLC1	103911608	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.216000	0.95154	2.769000	0.95229	0.563000	0.77884	CGA		0.483	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741	
NFKB2	4791	broad.mit.edu	37	10	104161523	104161523	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:104161523A>G	ENST00000369966.3	+	21	2565	c.2315A>G	c.(2314-2316)gAt>gGt	p.D772G	NFKB2_ENST00000428099.1_Missense_Mutation_p.D772G|NFKB2_ENST00000189444.6_Missense_Mutation_p.D772G	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	772	Death.		Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D772G(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	TCACTTGGTGATACAGCTCTG	0.597			T	IGH@	B-NHL																																p.D772G			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2315G	10						.						46.0	46.0	46.0					10																	104161523		1986	4164	6150	104151513	SO:0001583	missense	4791	exon21			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2315A>G	10.37:g.104161523A>G	ENSP00000358983:p.Asp772Gly		104151513	NM_001077493	A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	ENST00000369966.3	37	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	a	12.53	1.967049	0.34754	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.21543	2.0;2.0;2.0	3.79	2.55	0.30701	Death (1);DEATH-like (2);	0.428788	0.25052	N	0.033513	T	0.12518	0.0304	L	0.36672	1.1	0.18873	N	0.999987	B;B	0.25667	0.131;0.131	B;B	0.22386	0.039;0.039	T	0.10451	-1.0629	10	0.33141	T	0.24	.	2.9242	0.05779	0.5753:0.2536:0.171:0.0	.	772;772	Q00653;A8K9D9	NFKB2_HUMAN;.	G	772	ENSP00000410256:D772G;ENSP00000358983:D772G;ENSP00000189444:D772G	ENSP00000189444:D772G	D	+	2	0	NFKB2	104151513	0.964000	0.33143	0.118000	0.21660	0.956000	0.61745	2.133000	0.42093	1.711000	0.51337	0.454000	0.30748	GAT		0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2		
SUFU	51684	broad.mit.edu	37	10	104268963	104268963	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:104268963T>C	ENST00000369902.3	+	2	386	c.220T>C	c.(220-222)Tac>Cac	p.Y74H	SUFU_ENST00000369899.2_Missense_Mutation_p.Y74H|SUFU_ENST00000423559.2_Missense_Mutation_p.Y74H	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	74					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Y74H(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TGTTAGCATGTACAGGaatgt	0.502			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																												p.Y74H		yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T220C	10						.						166.0	143.0	151.0					10																	104268963		2203	4300	6503	104258953	SO:0001583	missense	51684	exon2	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.220T>C	10.37:g.104268963T>C	ENSP00000358918:p.Tyr74His		104258953	NM_016169	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	ENST00000369902.3	37	CCDS7537.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.474461	0.84640	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.85955	-2.05;-2.05;-2.05	5.44	5.44	0.79542	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95901	0.8915	10	0.87932	D	0	-17.77	15.4866	0.75573	0.0:0.0:0.0:1.0	.	74;74;74	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	H	74	ENSP00000358918:Y74H;ENSP00000358915:Y74H;ENSP00000411597:Y74H	ENSP00000358915:Y74H	Y	+	1	0	SUFU	104258953	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.270000	0.78493	2.056000	0.61249	0.459000	0.35465	TAC		0.502	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169	
GTPBP4	23560	broad.mit.edu	37	10	1060250	1060250	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:1060250G>A	ENST00000360803.4	+	15	1688	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	GTPBP4_ENST00000545048.1_Missense_Mutation_p.D489N|GTPBP4_ENST00000538293.1_Missense_Mutation_p.D420N	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	536					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.D536N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CGATAAAGACGATGTGAGTGT	0.443																																					p.D536N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1606A	10						.						193.0	152.0	166.0					10																	1060250		2203	4300	6503	1050250	SO:0001583	missense	23560	exon15			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1606G>A	10.37:g.1060250G>A	ENSP00000354040:p.Asp536Asn		1050250	NM_012341	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090454	0.07053	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.32023	1.47;1.47;1.47	5.27	-1.59	0.08453	.	0.403858	0.30676	N	0.009102	T	0.12135	0.0295	N	0.13198	0.31	0.32222	N	0.575119	B	0.02656	0.0	B	0.01281	0.0	T	0.38394	-0.9663	10	0.07990	T	0.79	-21.0744	7.6101	0.28124	0.2745:0.142:0.5834:0.0	.	536	Q9BZE4	NOG1_HUMAN	N	536;420;489	ENSP00000354040:D536N;ENSP00000444277:D420N;ENSP00000445473:D489N	ENSP00000354040:D536N	D	+	1	0	GTPBP4	1050250	1.000000	0.71417	0.015000	0.15790	0.040000	0.13550	1.733000	0.38156	-0.134000	0.11516	-0.143000	0.13931	GAT		0.443	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341	
IDI2	91734	broad.mit.edu	37	10	1068668	1068668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:1068668G>A	ENST00000277517.1	-	3	254	c.190C>T	c.(190-192)Cga>Tga	p.R64*	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	64	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)	p.R64*(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ATCAGGATTCGATTCTTGGTG	0.517																																					p.R64X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C190T	10						.						132.0	106.0	115.0					10																	1068668		2203	4300	6503	1058668	SO:0001587	stop_gained	91734	exon3			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.190C>T	10.37:g.1068668G>A	ENSP00000277517:p.Arg64*		1058668	NM_033261		Nonsense_Mutation	SNP	ENST00000277517.1	37	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059729	0.55325	.	.	ENSG00000148377	ENST00000277517	.	.	.	3.06	-6.12	0.02124	.	0.301126	0.33854	U	0.004487	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-6.8684	9.4123	0.38500	0.0:0.175:0.6093:0.2157	.	.	.	.	X	64	.	ENSP00000277517:R64X	R	-	1	2	IDI2	1058668	0.149000	0.22717	0.000000	0.03702	0.089000	0.18198	0.373000	0.20484	-2.751000	0.00374	0.134000	0.15878	CGA		0.517	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261	
NT5C2	22978	broad.mit.edu	37	10	104852972	104852972	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:104852972C>A	ENST00000404739.3	-	13	1106	c.1083G>T	c.(1081-1083)aaG>aaT	p.K361N	NT5C2_ENST00000343289.5_Missense_Mutation_p.K361N|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.K332N			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	361					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.K361N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CTTGCCGTTTCTTTGATTTTA	0.418																																					p.K361N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1083T	10						.						99.0	95.0	96.0					10																	104852972		2203	4300	6503	104842962	SO:0001583	missense	22978	exon15			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.1083G>T	10.37:g.104852972C>A	ENSP00000383960:p.Lys361Asn		104842962	NM_012229	B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876337	0.91664	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000421281	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.76	5.76	0.90799	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68655	-0.5351	10	0.87932	D	0	-23.0324	14.4984	0.67704	0.0:0.9299:0.0:0.0701	.	332;208;361	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	N	361;361;332;61	ENSP00000339479:K361N;ENSP00000383960:K361N;ENSP00000392236:K332N;ENSP00000408112:K61N	ENSP00000339479:K361N	K	-	3	2	NT5C2	104842962	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.966000	0.63715	2.871000	0.98454	0.655000	0.94253	AAG		0.418	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229	
CFAP43	80217	broad.mit.edu	37	10	105923959	105923959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:105923959G>A	ENST00000357060.3	-	24	3254	c.3139C>T	c.(3139-3141)Cga>Tga	p.R1047*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.R1048*	NM_025145.5	NP_079421.5												p.R1047*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCTCGAATTCGAACATTTCTT	0.368																																					p.R1047X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3139T	10						.						120.0	105.0	110.0					10																	105923959		2203	4299	6502	105913949	SO:0001587	stop_gained	80217	exon24																														ENST00000357060.3:c.3139C>T	10.37:g.105923959G>A	ENSP00000349568:p.Arg1047*		105913949	NM_025145		Nonsense_Mutation	SNP	ENST00000357060.3	37	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	G	42	9.361331	0.99148	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	.	.	.	6.06	3.67	0.42095	.	0.184608	0.45867	D	0.000334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9713	0.58513	0.0:0.0:0.4051:0.5949	.	.	.	.	X	1047;1048	.	ENSP00000349568:R1047X	R	-	1	2	WDR96	105913949	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.371000	0.34250	1.121000	0.41925	-0.271000	0.10264	CGA		0.368	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CFAP43	80217	broad.mit.edu	37	10	105985225	105985225	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:105985225G>A	ENST00000278064.2	-	3	525	c.200C>T	c.(199-201)gCc>gTc	p.A67V	WDR96_ENST00000357060.3_Missense_Mutation_p.A137V|WDR96_ENST00000369719.1_Missense_Mutation_p.A67V|WDR96_ENST00000369720.1_Missense_Mutation_p.A67V|WDR96_ENST00000428666.1_Missense_Mutation_p.A137V														p.A137V(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTACCAAAGGGCCAGTTCAAA	0.393																																					p.A137V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C410T	10						.						73.0	67.0	69.0					10																	105985225		2203	4300	6503	105975215	SO:0001583	missense	80217	exon3																														ENST00000278064.2:c.200C>T	10.37:g.105985225G>A	ENSP00000278064:p.Ala67Val		105975215	NM_025145		Missense_Mutation	SNP	ENST00000278064.2	37		.	.	.	.	.	.	.	.	.	.	G	29.9	5.042175	0.93685	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.70045	1.65;1.65;1.65;1.65;-0.45	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.372156	0.19786	N	0.106103	T	0.69178	0.3082	L	0.36672	1.1	0.39468	D	0.96768	P;D;B	0.53462	0.728;0.96;0.272	B;P;B	0.51516	0.283;0.672;0.077	T	0.70714	-0.4796	10	0.46703	T	0.11	.	19.4305	0.94762	0.0:0.0:1.0:0.0	.	137;137;137	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	V	137;137;67;67;67	ENSP00000349568:A137V;ENSP00000400289:A137V;ENSP00000278064:A67V;ENSP00000358734:A67V;ENSP00000358733:A67V	ENSP00000278064:A67V	A	-	2	0	WDR96	105975215	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.199000	0.89731	2.646000	0.89796	0.655000	0.94253	GCC		0.393	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1		
CFAP58	159686	broad.mit.edu	37	10	106128227	106128227	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:106128227G>A	ENST00000369704.3	+	6	973	c.839G>A	c.(838-840)aGa>aAa	p.R280K	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		280						extracellular space (GO:0005615)		p.R280K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTTCAGATGAGAAATGCTAAA	0.413																																					p.R280K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G839A	10						.						104.0	95.0	98.0					10																	106128227		2203	4300	6503	106118217	SO:0001583	missense	159686	exon6																														ENST00000369704.3:c.839G>A	10.37:g.106128227G>A	ENSP00000358718:p.Arg280Lys		106118217	NM_001008723	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437527	0.25900	.	.	ENSG00000120051	ENST00000369704	T	0.27256	1.68	6.17	5.27	0.74061	.	0.127109	0.64402	D	0.000002	T	0.11750	0.0286	N	0.05383	-0.06	0.80722	D	1	B	0.10296	0.003	B	0.15052	0.012	T	0.13072	-1.0523	10	0.07175	T	0.84	-15.8639	11.6451	0.51257	0.1545:0.0:0.8455:0.0	.	280	Q5T655	CC147_HUMAN	K	280	ENSP00000358718:R280K	ENSP00000358718:R280K	R	+	2	0	CCDC147	106118217	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.247000	0.43151	2.941000	0.99782	0.655000	0.94253	AGA		0.413	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
SORCS3	22986	broad.mit.edu	37	10	107005354	107005354	+	Missense_Mutation	SNP	G	G	A	rs564565487	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:107005354G>A	ENST00000369701.3	+	21	3150	c.2923G>A	c.(2923-2925)Gac>Aac	p.D975N	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	975					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.D975N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGGAACCGACACCATCAC	0.468													A|||	2	0.000399361	0.0	0.0014	5008	,	,		19925	0.0		0.001	False		,,,				2504	0.0				p.D975N	NSCLC(116;1497 1690 7108 13108 14106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2923A	10						.						222.0	174.0	190.0					10																	107005354		2203	4300	6503	106995344	SO:0001583	missense	22986	exon21			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2923G>A	10.37:g.107005354G>A	ENSP00000358715:p.Asp975Asn		106995344	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	9.809	1.182578	0.21870	.	.	ENSG00000156395	ENST00000369701	T	0.41400	1.0	5.96	5.96	0.96718	PKD domain (1);	0.141216	0.64402	N	0.000007	T	0.10594	0.0259	N	0.00119	-2.075	0.20703	N	0.999864	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	9	.	.	.	.	12.2307	0.54486	0.9338:0.0:0.0662:0.0	.	975	Q9UPU3	SORC3_HUMAN	N	975	ENSP00000358715:D975N	.	D	+	1	0	SORCS3	106995344	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.812000	0.55628	1.077000	0.40990	-0.269000	0.10298	GAC		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
SORCS1	114815	broad.mit.edu	37	10	108339147	108339147	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:108339147G>A	ENST00000263054.6	-	25	3358	c.3351C>T	c.(3349-3351)ttC>ttT	p.F1117F	SORCS1_ENST00000369698.1_Silent_p.F652F|SORCS1_ENST00000344440.6_Silent_p.F1117F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1117					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.F1117F(3)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTAGATGACGAACACTGCCA	0.552																																					p.F1117F												.	.	3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)	c.C3351T	10						.						142.0	102.0	116.0					10																	108339147		2203	4300	6503	108329137	SO:0001819	synonymous_variant	114815	exon25			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3351C>T	10.37:g.108339147G>A			108329137	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	5.802	0.332326	0.10956	.	.	ENSG00000108018	ENST00000452214	.	.	.	5.92	-1.11	0.09840	.	.	.	.	.	T	0.63593	0.2524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60362	-0.7278	4	.	.	.	-21.4686	12.7159	0.57115	0.6948:0.0:0.3052:0.0	.	.	.	.	L	132	.	.	S	-	2	0	SORCS1	108329137	0.986000	0.35501	0.992000	0.48379	0.637000	0.38172	0.385000	0.20685	-0.211000	0.10124	-0.252000	0.11476	TCG		0.552	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
SORCS1	114815	broad.mit.edu	37	10	108380273	108380273	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:108380273C>A	ENST00000263054.6	-	20	2716	c.2709G>T	c.(2707-2709)aaG>aaT	p.K903N	SORCS1_ENST00000369698.1_Missense_Mutation_p.K438N|SORCS1_ENST00000344440.6_Missense_Mutation_p.K903N|SORCS1_ENST00000478809.2_5'Flank	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	903					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.K903N(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCTCTTTGTTCTTTGTGGTGA	0.562																																					p.K903N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2709T	10						.						150.0	124.0	133.0					10																	108380273		2203	4300	6503	108370263	SO:0001583	missense	114815	exon20			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2709G>T	10.37:g.108380273C>A	ENSP00000263054:p.Lys903Asn		108370263	NM_052918	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606660	0.87157	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.41400	1.0;2.43;2.44	5.75	5.75	0.90469	PKD/Chitinase domain (1);PKD domain (1);	0.057409	0.64402	D	0.000002	T	0.56202	0.1969	L	0.50333	1.59	0.49389	D	0.999788	P;P;P;P;P	0.51057	0.902;0.941;0.941;0.902;0.941	P;P;P;P;P	0.57009	0.652;0.811;0.811;0.652;0.811	T	0.46624	-0.9178	9	.	.	.	-24.6688	19.9549	0.97216	0.0:1.0:0.0:0.0	.	903;903;903;903;903	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	N	438;903;903	ENSP00000358712:K438N;ENSP00000263054:K903N;ENSP00000345964:K903N	.	K	-	3	2	SORCS1	108370263	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.549000	0.67261	2.714000	0.92807	0.655000	0.94253	AAG		0.562	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
HABP2	3026	broad.mit.edu	37	10	115343102	115343102	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115343102C>A	ENST00000351270.3	+	10	1318	c.1222C>A	c.(1222-1224)Ccc>Acc	p.P408T	HABP2_ENST00000541666.1_3'UTR|HABP2_ENST00000542051.1_Missense_Mutation_p.P382T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	408	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.P408T(1)		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)	AGATGAGATTCCCCACAATGA	0.443																																					p.P382T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1144A	10						.						102.0	101.0	101.0					10																	115343102		2203	4300	6503	115333092	SO:0001583	missense	3026	exon10				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.1222C>A	10.37:g.115343102C>A	ENSP00000277903:p.Pro408Thr		115333092	NM_001177660	A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980069	0.53827	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.92699	-3.09;-3.09	6.06	6.06	0.98353	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.169547	0.53938	D	0.000051	D	0.91452	0.7302	N	0.16307	0.4	0.80722	D	1	D	0.60160	0.987	P	0.60286	0.872	D	0.89842	0.4003	10	0.27082	T	0.32	.	18.8088	0.92050	0.0:1.0:0.0:0.0	.	408	Q14520	HABP2_HUMAN	T	382;408	ENSP00000443283:P382T;ENSP00000277903:P408T	ENSP00000277903:P408T	P	+	1	0	HABP2	115333092	1.000000	0.71417	0.996000	0.52242	0.372000	0.29890	3.480000	0.53172	2.871000	0.98454	0.655000	0.94253	CCC		0.443	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132	
NRAP	4892	broad.mit.edu	37	10	115372127	115372127	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115372127C>T	ENST00000359988.3	-	30	3608	c.3364G>A	c.(3364-3366)Gcc>Acc	p.A1122T	NRAP_ENST00000369358.4_Missense_Mutation_p.A1130T|NRAP_ENST00000369360.3_Missense_Mutation_p.A1095T|NRAP_ENST00000360478.3_Missense_Mutation_p.A1087T	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.A1122T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCACCAGGGCGGCCATGTCC	0.532																																					p.A1122T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3364A	10						.						106.0	93.0	97.0					10																	115372127		2203	4300	6503	115362117	SO:0001583	missense	4892	exon30				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3364G>A	10.37:g.115372127C>T	ENSP00000353078:p.Ala1122Thr		115362117	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	5.819	0.335300	0.11013	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.62	4.42	0.53409	.	0.222981	0.47852	N	0.000215	T	0.10551	0.0258	N	0.02202	-0.64	0.18873	N	0.999987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.29971	-0.9994	10	0.13108	T	0.6	.	6.6353	0.22879	0.0:0.0846:0.2726:0.6428	.	1122;1087;1122	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	T	1130;1095;1122;1087	ENSP00000358365:A1130T;ENSP00000358367:A1095T;ENSP00000353078:A1122T;ENSP00000353666:A1087T	ENSP00000353078:A1122T	A	-	1	0	NRAP	115362117	0.827000	0.29292	0.788000	0.31933	0.559000	0.35586	1.269000	0.33074	0.978000	0.38470	-0.345000	0.07892	GCC		0.532	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
NRAP	4892	broad.mit.edu	37	10	115374603	115374603	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115374603T>G	ENST00000359988.3	-	28	3425	c.3181A>C	c.(3181-3183)Agt>Cgt	p.S1061R	NRAP_ENST00000369358.4_Missense_Mutation_p.S1069R|NRAP_ENST00000369360.3_Missense_Mutation_p.S1034R|NRAP_ENST00000360478.3_Missense_Mutation_p.S1026R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.S1061R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTCACATCACTTATGATTTCA	0.458																																					p.S1061R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3181C	10						.						150.0	133.0	139.0					10																	115374603		2203	4300	6503	115364593	SO:0001583	missense	4892	exon28				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3181A>C	10.37:g.115374603T>G	ENSP00000353078:p.Ser1061Arg		115364593	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343165	0.82022	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.89715	3.055	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94069	0.7333	10	0.87932	D	0	.	15.8923	0.79309	0.0:0.0:0.0:1.0	.	1061;1026;1061	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	R	1069;1034;1061;1026	ENSP00000358365:S1069R;ENSP00000358367:S1034R;ENSP00000353078:S1061R;ENSP00000353666:S1026R	ENSP00000353078:S1061R	S	-	1	0	NRAP	115364593	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.356000	0.79445	2.157000	0.67596	0.533000	0.62120	AGT		0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
NRAP	4892	broad.mit.edu	37	10	115388751	115388751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115388751C>T	ENST00000359988.3	-	20	2314	c.2070G>A	c.(2068-2070)atG>atA	p.M690I	NRAP_ENST00000369358.4_Missense_Mutation_p.M698I|NRAP_ENST00000369360.3_Missense_Mutation_p.M663I|NRAP_ENST00000360478.3_Missense_Mutation_p.M655I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.M690I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAACTCCCTTCATCCATGCCA	0.537																																					p.M690I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2070A	10						.						134.0	118.0	123.0					10																	115388751		2203	4300	6503	115378741	SO:0001583	missense	4892	exon20				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2070G>A	10.37:g.115388751C>T	ENSP00000353078:p.Met690Ile		115378741	NM_198060		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.91|17.91	3.504997|3.504997	0.64410|0.64410	.|.	.|.	ENSG00000197893|ENSG00000197893	ENST00000369343|ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	.|T;T;T;T	.|0.39787	.|1.06;1.06;1.06;1.06	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44117|0.44117	0.1278|0.1278	L|L	0.35414|0.35414	1.06|1.06	0.43803|0.43803	D|D	0.996356|0.996356	.|P;P;P	.|0.51933	.|0.949;0.745;0.865	.|P;P;B	.|0.49799	.|0.622;0.62;0.416	T|T	0.22591|0.22591	-1.0212|-1.0212	6|10	0.72032|0.34782	D|T	0.01|0.22	.|.	18.4473|18.4473	0.90690|0.90690	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|690;655;690	.|A0AVL2;Q86VF7-4;Q86VF7	.|.;.;NRAP_HUMAN	K|I	363|698;663;690;655	.|ENSP00000358365:M698I;ENSP00000358367:M663I;ENSP00000353078:M690I;ENSP00000353666:M655I	ENSP00000358349:E363K|ENSP00000353078:M690I	E|M	-|-	1|3	0|0	NRAP|NRAP	115378741|115378741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.482000|0.482000	0.33219|0.33219	6.743000|6.743000	0.74848|0.74848	2.451000|2.451000	0.82905|0.82905	0.313000|0.313000	0.20887|0.20887	GAA|ATG		0.537	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
NRAP	4892	broad.mit.edu	37	10	115406696	115406696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115406696C>A	ENST00000359988.3	-	10	1223	c.979G>T	c.(979-981)Gaa>Taa	p.E327*	NRAP_ENST00000369358.4_Nonsense_Mutation_p.E327*|NRAP_ENST00000369360.3_Nonsense_Mutation_p.E327*|NRAP_ENST00000360478.3_Nonsense_Mutation_p.E327*	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.E327K(3)|p.E327*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTAGCGAGTTCGTGAGCTTTC	0.527																																					p.E327X												.	.	4	Substitution - Missense(3)|Substitution - Nonsense(1)	large_intestine(4)	c.G979T	10						.						249.0	194.0	213.0					10																	115406696		2203	4300	6503	115396686	SO:0001587	stop_gained	4892	exon10				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.979G>T	10.37:g.115406696C>A	ENSP00000353078:p.Glu327*		115396686	NM_198060		Nonsense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	40	8.075907	0.98640	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	.	.	.	5.71	3.87	0.44632	.	0.142736	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	12.5859	0.56416	0.0:0.8654:0.0:0.1346	.	.	.	.	X	327;327;327;327;56;56	.	ENSP00000353078:E327X	E	-	1	0	NRAP	115396686	1.000000	0.71417	0.977000	0.42913	0.923000	0.55619	5.461000	0.66699	0.884000	0.36064	0.643000	0.83706	GAA		0.527	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
DCLRE1A	9937	broad.mit.edu	37	10	115605532	115605532	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115605532G>T	ENST00000361384.2	-	4	3207	c.2290C>A	c.(2290-2292)Cat>Aat	p.H764N	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.H764N	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	764					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.H764N(1)|p.H764Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TCTTGCACATGAAGCTTGTTC	0.343								Other identified genes with known or suspected DNA repair function																													p.H764N												DCLRE1A,skin,NS,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C2290A	10						.						169.0	145.0	153.0					10																	115605532		2203	4300	6503	115595522	SO:0001583	missense	9937	exon4				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2290C>A	10.37:g.115605532G>T	ENSP00000355185:p.His764Asn		115595522	NM_014881	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282061	0.40394	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.75260	-0.92;-0.92	5.3	3.32	0.38043	Beta-lactamase-like (1);	0.415439	0.26237	N	0.025527	T	0.51261	0.1664	N	0.05306	-0.075	0.21915	N	0.999472	B	0.16396	0.017	B	0.24006	0.05	T	0.40251	-0.9573	10	0.37606	T	0.19	-11.4433	8.9122	0.35559	0.0795:0.0:0.77:0.1505	.	764	Q6PJP8	DCR1A_HUMAN	N	764	ENSP00000355185:H764N;ENSP00000358311:H764N	ENSP00000355185:H764N	H	-	1	0	DCLRE1A	115595522	0.987000	0.35691	0.997000	0.53966	0.981000	0.71138	2.938000	0.48987	2.630000	0.89119	0.591000	0.81541	CAT		0.343	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
DCLRE1A	9937	broad.mit.edu	37	10	115609148	115609148	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115609148C>A	ENST00000361384.2	-	2	2633	c.1716G>T	c.(1714-1716)gaG>gaT	p.E572D	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E572D	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	572	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.E572D(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTAGCAATTTCTCTTCCTTTC	0.393								Other identified genes with known or suspected DNA repair function																													p.E572D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1716T	10						.						157.0	155.0	156.0					10																	115609148		2203	4300	6503	115599138	SO:0001583	missense	9937	exon2				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1716G>T	10.37:g.115609148C>A	ENSP00000355185:p.Glu572Asp		115599138	NM_014881	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	7.463	0.645056	0.14451	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.68181	-0.31;-0.31	5.63	1.55	0.23275	.	0.116310	0.64402	D	0.000016	T	0.55000	0.1893	L	0.52364	1.645	0.35643	D	0.811121	B	0.22346	0.068	B	0.20577	0.03	T	0.50800	-0.8785	10	0.31617	T	0.26	-8.3338	8.2175	0.31521	0.0:0.6166:0.1075:0.2759	.	572	Q6PJP8	DCR1A_HUMAN	D	572	ENSP00000355185:E572D;ENSP00000358311:E572D	ENSP00000355185:E572D	E	-	3	2	DCLRE1A	115599138	0.941000	0.31946	0.689000	0.30133	0.160000	0.22226	0.822000	0.27352	-0.102000	0.12197	-1.937000	0.00501	GAG		0.393	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
TDRD1	56165	broad.mit.edu	37	10	115973338	115973338	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115973338G>T	ENST00000369280.1	+	15	2525	c.2065G>T	c.(2065-2067)Gaa>Taa	p.E689*	TDRD1_ENST00000369282.1_Nonsense_Mutation_p.E689*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.E632*|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.E293*|TDRD1_ENST00000251864.2_Nonsense_Mutation_p.E689*			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	689					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.E689*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGACGTGAAAGAAACCAGTGG	0.393																																					p.E689X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2065T	10						.						129.0	116.0	120.0					10																	115973338		2203	4300	6503	115963328	SO:0001587	stop_gained	56165	exon15			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2065G>T	10.37:g.115973338G>T	ENSP00000358286:p.Glu689*		115963328	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Nonsense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.971286	0.97156	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	.	.	.	5.58	3.32	0.38043	.	0.697055	0.14611	N	0.309016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-9.4896	8.7208	0.34439	0.1083:0.1489:0.7428:0.0	.	.	.	.	X	689;689;632;293;689	.	ENSP00000251864:E689X	E	+	1	0	TDRD1	115963328	0.448000	0.25681	0.002000	0.10522	0.029000	0.11900	1.736000	0.38187	0.447000	0.26695	0.563000	0.77884	GAA		0.393	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
TDRD1	56165	broad.mit.edu	37	10	115973843	115973843	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115973843G>A	ENST00000369280.1	+	16	2642	c.2182G>A	c.(2182-2184)Gaa>Aaa	p.E728K	TDRD1_ENST00000369282.1_Missense_Mutation_p.E728K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E671K|TDRD1_ENST00000422662.1_Missense_Mutation_p.E332K|TDRD1_ENST00000251864.2_Missense_Mutation_p.E728K			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	728					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.E728K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TAGTCCTGGAGAATTTTATTG	0.368																																					p.E728K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2182A	10						.						281.0	262.0	269.0					10																	115973843		2203	4300	6503	115963833	SO:0001583	missense	56165	exon16			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2182G>A	10.37:g.115973843G>A	ENSP00000358286:p.Glu728Lys		115963833	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	G	25.0	4.595460	0.86953	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09073	3.02;3.02;3.02;3.02;3.02	5.62	5.62	0.85841	Maternal tudor protein (1);	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	L	0.48642	1.525	0.50039	D	0.999848	D;D;D;D;D	0.89917	1.0;0.991;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.997;0.971;0.999;0.998;0.999	T	0.00230	-1.1897	10	0.33940	T	0.23	-28.0735	16.8163	0.85734	0.0:0.0:1.0:0.0	.	332;728;671;728;671	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	K	728;728;671;332;728	ENSP00000358288:E728K;ENSP00000251864:E728K;ENSP00000358287:E671K;ENSP00000402794:E332K;ENSP00000358286:E728K	ENSP00000251864:E728K	E	+	1	0	TDRD1	115963833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.918000	0.75788	2.628000	0.89032	0.563000	0.77884	GAA		0.368	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
TDRD1	56165	broad.mit.edu	37	10	115987858	115987858	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:115987858T>G	ENST00000369280.1	+	24	3744	c.3284T>G	c.(3283-3285)tTt>tGt	p.F1095C	TDRD1_ENST00000369282.1_Missense_Mutation_p.F1095C|TDRD1_ENST00000369281.2_Missense_Mutation_p.F1057C|TDRD1_ENST00000422662.1_Missense_Mutation_p.F699C|TDRD1_ENST00000251864.2_Missense_Mutation_p.F1171C			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1085					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.F1171C(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAAAATAAATTTATTGAAATG	0.303																																					p.F1171C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3512G	10						.						19.0	19.0	19.0					10																	115987858		2173	4278	6451	115977848	SO:0001583	missense	56165	exon25			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.3284T>G	10.37:g.115987858T>G	ENSP00000358286:p.Phe1095Cys		115977848	NM_198795	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37		.	.	.	.	.	.	.	.	.	.	T	14.20	2.463760	0.43736	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.22945	2.48;2.74;1.93;2.06;2.41	5.73	3.34	0.38264	.	0.351646	0.28307	N	0.015828	T	0.15955	0.0384	L	0.38531	1.155	0.09310	N	0.999998	B;B;B;B;B	0.33904	0.431;0.007;0.013;0.023;0.023	B;B;B;B;B	0.31495	0.131;0.007;0.007;0.016;0.01	T	0.22208	-1.0223	10	0.54805	T	0.06	-9.1157	2.6068	0.04880	0.2539:0.0697:0.1323:0.5441	.	699;1171;1057;1171;1057	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	C	1095;1171;1057;699;1095	ENSP00000358288:F1095C;ENSP00000251864:F1171C;ENSP00000358287:F1057C;ENSP00000402794:F699C;ENSP00000358286:F1095C	ENSP00000251864:F1171C	F	+	2	0	TDRD1	115977848	0.580000	0.26733	0.978000	0.43139	0.997000	0.91878	0.680000	0.25306	0.402000	0.25451	0.533000	0.62120	TTT		0.303	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2		
TRUB1	142940	broad.mit.edu	37	10	116702491	116702491	+	Missense_Mutation	SNP	G	G	A	rs143607039		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:116702491G>A	ENST00000298746.3	+	2	435	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	125					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R125Q(3)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AGCGCAGCCCGAGGAGTTCTG	0.438																																					p.R125Q												.	.	3	Substitution - Missense(3)	urinary_tract(1)|large_intestine(1)|breast(1)	c.G374A	10						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	63.0	63.0		374	-1.8	1.0	10	dbSNP_134	63	0,8600		0,0,4300	no	missense	TRUB1	NM_139169.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	125/350	116702491	1,13005	2203	4300	6503	116692481	SO:0001583	missense	142940	exon2			AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"""TruB pseudouridine (psi) synthase homolog 1 (E. coli)"""			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.374G>A	10.37:g.116702491G>A	ENSP00000298746:p.Arg125Gln		116692481	NM_139169	B2R716|Q53ES2	Missense_Mutation	SNP	ENST00000298746.3	37	CCDS7591.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.673422	0.29693	2.27E-4	0.0	ENSG00000165832	ENST00000298746	T	0.13538	2.58	6.07	-1.76	0.08006	Pseudouridine synthase, catalytic domain (1);	0.780271	0.11522	N	0.555625	T	0.05181	0.0138	N	0.03194	-0.395	0.22745	N	0.998781	B	0.15473	0.013	B	0.18561	0.022	T	0.38714	-0.9648	10	0.37606	T	0.19	0.0275	6.6592	0.23004	0.5867:0.1744:0.2389:0.0	.	125	Q8WWH5	TRUB1_HUMAN	Q	125	ENSP00000298746:R125Q	ENSP00000298746:R125Q	R	+	2	0	TRUB1	116692481	0.298000	0.24417	0.990000	0.47175	0.994000	0.84299	0.618000	0.24373	-0.226000	0.09899	-0.136000	0.14681	CGA		0.438	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050504.1	NM_139169	
ATRNL1	26033	broad.mit.edu	37	10	117486833	117486833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:117486833G>T	ENST00000355044.3	+	27	3997	c.3871G>T	c.(3871-3873)Gaa>Taa	p.E1291*	ATRNL1_ENST00000423111.2_Nonsense_Mutation_p.E342*|ATRNL1_ENST00000303745.7_Nonsense_Mutation_p.E84*	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1291					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.E1291*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTGGGAGCTGAACAAACAGA	0.463																																					p.E1291X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3871T	10						.						54.0	49.0	51.0					10																	117486833		2203	4300	6503	117476823	SO:0001587	stop_gained	26033	exon27			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3871G>T	10.37:g.117486833G>T	ENSP00000347152:p.Glu1291*		117476823	NM_207303	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Nonsense_Mutation	SNP	ENST00000355044.3	37	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	37	6.538611	0.97646	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	.	.	.	5.77	5.77	0.91146	.	0.229422	0.43747	D	0.000536	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-21.3881	19.9795	0.97321	0.0:0.0:1.0:0.0	.	.	.	.	X	1291;342;84	.	ENSP00000307660:E84X	E	+	1	0	ATRNL1	117476823	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	6.905000	0.75714	2.720000	0.93068	0.650000	0.86243	GAA		0.463	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
ECHDC3	79746	broad.mit.edu	37	10	11789354	11789354	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:11789354C>T	ENST00000379215.4	+	2	388	c.177C>T	c.(175-177)atC>atT	p.I59I	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	59						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)	p.I59I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ACAGGAACATCGTCTTGAGCA	0.443																																					p.I59I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	10						.						134.0	108.0	117.0					10																	11789354		2203	4300	6503	11829360	SO:0001819	synonymous_variant	79746	exon2			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.177C>T	10.37:g.11789354C>T			11829360	NM_024693	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Silent	SNP	ENST00000379215.4	37	CCDS7084.1																																																																																				0.443	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1	NM_024693	
PNLIPRP3	119548	broad.mit.edu	37	10	118220558	118220558	+	Missense_Mutation	SNP	G	G	A	rs114674677	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:118220558G>A	ENST00000369230.3	+	6	792	c.646G>A	c.(646-648)Gtt>Att	p.V216I		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	216					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.V216I(1)|p.V216F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTTTGTTGACGTTATTCATAC	0.438													G|||	5	0.000998403	0.003	0.0014	5008	,	,		19043	0.0		0.0	False		,,,				2504	0.0				p.V216I												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G646A	10						.	G	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	140.0	125.0	130.0		646	2.8	0.0	10	dbSNP_132	130	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PNLIPRP3	NM_001011709.2	29	0,10,6493	AA,AG,GG		0.0233,0.1816,0.0769	probably-damaging	216/468	118220558	10,12996	2203	4300	6503	118210548	SO:0001583	missense	119548	exon6			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.646G>A	10.37:g.118220558G>A	ENSP00000358232:p.Val216Ile		118210548	NM_001011709		Missense_Mutation	SNP	ENST00000369230.3	37	CCDS31292.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	G	20.3	3.962150	0.74016	0.001816	2.33E-4	ENSG00000203837	ENST00000369230	D	0.91945	-2.94	4.93	2.85	0.33270	Lipase, N-terminal (1);	0.119302	0.34959	N	0.003545	D	0.84151	0.5409	L	0.51853	1.615	0.23747	N	0.996955	P	0.40875	0.731	B	0.37198	0.243	T	0.77713	-0.2485	10	0.56958	D	0.05	.	10.1136	0.42576	0.2401:0.0:0.7599:0.0	.	216	Q17RR3	LIPR3_HUMAN	I	216	ENSP00000358232:V216I	ENSP00000358232:V216I	V	+	1	0	PNLIPRP3	118210548	0.981000	0.34729	0.006000	0.13384	0.586000	0.36452	1.605000	0.36815	0.537000	0.28751	0.591000	0.81541	GTT		0.438	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404	
PNLIP	5406	broad.mit.edu	37	10	118310654	118310654	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:118310654G>T	ENST00000369221.2	+	5	397	c.369G>T	c.(367-369)tgG>tgT	p.W123C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	123					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.W123C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GTGTGGACTGGAAAGGTGGCT	0.418																																					p.W123C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G369T	10						.						101.0	91.0	94.0					10																	118310654		2203	4300	6503	118300644	SO:0001583	missense	5406	exon5			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.369G>T	10.37:g.118310654G>T	ENSP00000358223:p.Trp123Cys		118300644	NM_000936	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855413	0.51376	.	.	ENSG00000175535	ENST00000369221	D	0.92495	-3.05	5.25	5.25	0.73442	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000002	D	0.98112	0.9377	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99150	1.0858	10	0.87932	D	0	.	18.1294	0.89596	0.0:0.0:1.0:0.0	.	123	P16233	LIPP_HUMAN	C	123	ENSP00000358223:W123C	ENSP00000358223:W123C	W	+	3	0	PNLIP	118300644	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	7.206000	0.77891	2.885000	0.99019	0.655000	0.94253	TGG		0.418	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	
PNLIPRP2	5408	broad.mit.edu	37	10	118394392	118394392	+	RNA	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:118394392C>T	ENST00000298771.7	+	0	883				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TAAGAAGCTTCGAGTATTACT	0.493																																					p.S287L												.	.	0			c.C860T	10						.						93.0	93.0	93.0					10																	118394392		1953	4177	6130	118384382			5408	exon9			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118394392C>T			118384382	NM_005396	A8K627|Q6IB55	Silent	SNP	ENST00000298771.7	37																																																																																					0.493	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396	
PDZD8	118987	broad.mit.edu	37	10	119044687	119044687	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:119044687A>C	ENST00000334464.5	-	5	1796	c.1557T>G	c.(1555-1557)agT>agG	p.S519R	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	519					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.S519R(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGGGACTATGACTTAATGATT	0.398																																					p.S519R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1557G	10						.						264.0	254.0	257.0					10																	119044687		2203	4300	6503	119034677	SO:0001583	missense	118987	exon5			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.1557T>G	10.37:g.119044687A>C	ENSP00000334642:p.Ser519Arg		119034677	NM_173791	Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042640	0.55003	.	.	ENSG00000165650	ENST00000334464	D	0.86297	-2.1	5.93	5.93	0.95920	.	0.162163	0.64402	D	0.000014	T	0.80854	0.4703	N	0.24115	0.695	0.38224	D	0.940833	D	0.56035	0.974	P	0.46585	0.521	T	0.81867	-0.0735	10	0.36615	T	0.2	-8.8647	9.9651	0.41719	0.9251:0.0:0.0749:0.0	.	519	Q8NEN9	PDZD8_HUMAN	R	519	ENSP00000334642:S519R	ENSP00000334642:S519R	S	-	3	2	PDZD8	119034677	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.846000	0.55888	2.270000	0.75569	0.482000	0.46254	AGT		0.398	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791	
UPF2	26019	broad.mit.edu	37	10	12071330	12071330	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:12071330C>A	ENST00000356352.2	-	2	1032	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	UPF2_ENST00000397053.2_Missense_Mutation_p.D187Y|UPF2_ENST00000357604.5_Missense_Mutation_p.D187Y			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	187	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.D187Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GACAAGGAGTCTCTCTGTTGT	0.388																																					p.D187Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G559T	10						.						94.0	98.0	97.0					10																	12071330		2203	4300	6503	12111336	SO:0001583	missense	26019	exon3			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.559G>T	10.37:g.12071330C>A	ENSP00000348708:p.Asp187Tyr		12111336	NM_080599	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991509	0.74703	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.26660	1.72;1.72;1.72	5.74	5.74	0.90152	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.74348	0.904;0.983	T	0.43360	-0.9396	10	0.72032	D	0.01	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	157;187	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	Y	187;187;157;187;157	ENSP00000348708:D187Y;ENSP00000350221:D187Y;ENSP00000380244:D187Y	ENSP00000313617:D157Y	D	-	1	0	UPF2	12111336	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.729000	0.84864	2.873000	0.98535	0.563000	0.77884	GAC		0.388	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1		
EIF3A	8661	broad.mit.edu	37	10	120818794	120818794	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:120818794C>A	ENST00000369144.3	-	11	1686	c.1559G>T	c.(1558-1560)aGa>aTa	p.R520I	SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.R486I|SNORA19_ENST00000410656.1_RNA	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.R520I(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CAGCTGGTTTCTTATCTGCTC	0.443																																					p.R520I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1559T	10						.						159.0	149.0	152.0					10																	120818794		2203	4300	6503	120808784	SO:0001583	missense	8661	exon11			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1559G>T	10.37:g.120818794C>A	ENSP00000358140:p.Arg520Ile		120808784	NM_003750	B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474464	0.84640	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.51071	0.72;0.72	5.55	5.55	0.83447	.	0.000000	0.43110	D	0.000616	T	0.73799	0.3633	M	0.84433	2.695	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.77846	-0.2436	10	0.87932	D	0	-15.1616	19.5145	0.95157	0.0:1.0:0.0:0.0	.	520	Q14152	EIF3A_HUMAN	I	520;486	ENSP00000358140:R520I;ENSP00000438178:R486I	ENSP00000358140:R520I	R	-	2	0	EIF3A	120808784	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.786000	0.85741	2.618000	0.88619	0.655000	0.94253	AGA		0.443	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750	
TIAL1	7073	broad.mit.edu	37	10	121337197	121337197	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:121337197T>G	ENST00000436547.2	-	8	652	c.608A>C	c.(607-609)aAa>aCa	p.K203T	TIAL1_ENST00000463089.2_5'Flank|TIAL1_ENST00000369093.2_Missense_Mutation_p.K220T|TIAL1_ENST00000369092.4_Missense_Mutation_p.K80T	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	203					apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		AGTACAATTTTTTGGACTTGA	0.368																																					p.K220T												.	.	0			c.A659C	10						.						141.0	128.0	133.0					10																	121337197		2203	4300	6503	121327187	SO:0001583	missense	7073	exon8			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.608A>C	10.37:g.121337197T>G	ENSP00000394902:p.Lys203Thr		121327187	NM_001033925	A8K3T0|A8K4L9	Missense_Mutation	SNP	ENST00000436547.2	37	CCDS7613.1	.	.	.	.	.	.	.	.	.	.	T	3.540	-0.093849	0.07053	.	.	ENSG00000151923	ENST00000369093;ENST00000369092;ENST00000436547	T;T;T	0.25749	2.88;1.78;3.04	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);	0.088845	0.85682	D	0.000000	T	0.04815	0.0130	N	0.00044	-2.455	0.51767	D	0.999938	B;B;B;B	0.13594	0.008;0.001;0.0;0.0	B;B;B;B	0.17979	0.02;0.003;0.001;0.008	T	0.44375	-0.9332	10	0.02654	T	1	-16.4423	15.4548	0.75305	0.0:0.0:0.0:1.0	.	80;80;220;203	B4DHS3;Q49AS9;A8K4L9;Q01085	.;.;.;TIAR_HUMAN	T	220;80;203	ENSP00000358089:K220T;ENSP00000358088:K80T;ENSP00000394902:K203T	ENSP00000358088:K80T	K	-	2	0	TIAL1	121327187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.949000	0.63596	2.113000	0.64589	0.482000	0.46254	AAA		0.368	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050672.2	NM_022333, NM_003252	
DHTKD1	55526	broad.mit.edu	37	10	12129587	12129587	+	Silent	SNP	C	C	T	rs543081107		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:12129587C>T	ENST00000263035.4	+	4	638	c.576C>T	c.(574-576)ggC>ggT	p.G192G	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	192					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G192G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GATATGGAGGCGAAGGGGCTG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20800	0.001		0.0	False		,,,				2504	0.0				p.G192G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576T	10						.						133.0	115.0	121.0					10																	12129587		2203	4300	6503	12169593	SO:0001819	synonymous_variant	55526	exon4			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.576C>T	10.37:g.12129587C>T			12169593	NM_018706	Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	ENST00000263035.4	37	CCDS7087.1																																																																																				0.527	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706	
SEC23IP	11196	broad.mit.edu	37	10	121692598	121692598	+	Missense_Mutation	SNP	G	G	A	rs200302175		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:121692598G>A	ENST00000369075.3	+	17	2912	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	SEC23IP_ENST00000475542.1_3'UTR|SEC23IP_ENST00000543134.1_Missense_Mutation_p.R736Q	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	947	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R947Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGAGGCCGCCGAATTGACTAC	0.368																																					p.R947Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2840A	10						.						101.0	101.0	101.0					10																	121692598		2203	4300	6503	121682588	SO:0001583	missense	11196	exon17			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.2840G>A	10.37:g.121692598G>A	ENSP00000358071:p.Arg947Gln		121682588	NM_007190	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	ENST00000369075.3	37	CCDS7618.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261511	0.95368	.	.	ENSG00000107651	ENST00000369075;ENST00000543134	T;T	0.58940	0.3;0.51	5.28	5.28	0.74379	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.76090	0.3939	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.75306	-0.3364	10	0.44086	T	0.13	-13.3306	19.2611	0.93968	0.0:0.0:1.0:0.0	.	736;947	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	Q	947;736	ENSP00000358071:R947Q;ENSP00000438773:R736Q	ENSP00000358071:R947Q	R	+	2	0	SEC23IP	121682588	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.420000	0.97426	2.625000	0.88918	0.655000	0.94253	CGA		0.368	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1		
ATE1	11101	broad.mit.edu	37	10	123683784	123683784	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:123683784C>T	ENST00000224652.6	-	2	252	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000543447.1_5'UTR|ATE1_ENST00000369043.3_Missense_Mutation_p.R56Q|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.R49Q	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	56					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GCTTTACCTTCGCCATCCTCG	0.418																																					p.R56Q												.	.	0			c.G167A	10						.						185.0	166.0	173.0					10																	123683784		2203	4300	6503	123673774	SO:0001583	missense	11101	exon2			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.167G>A	10.37:g.123683784C>T	ENSP00000224652:p.Arg56Gln		123673774	NM_001001976	O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777486	0.70107	.	.	ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000540606;ENST00000455628	.	.	.	5.76	4.86	0.63082	Arginine-tRNA-protein transferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82944	0.5147	H	0.96547	3.84	0.80722	D	1	P;B;P	0.41420	0.693;0.39;0.749	B;B;P	0.50270	0.115;0.132;0.636	D	0.86906	0.2057	9	0.87932	D	0	.	12.5123	0.56013	0.0:0.9222:0.0:0.0778	.	49;56;56	F5GXE4;O95260;O95260-2	.;ATE1_HUMAN;.	Q	56;56;49;49	.	ENSP00000224652:R56Q	R	-	2	0	ATE1	123673774	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.328000	0.65887	1.420000	0.47138	0.655000	0.94253	CGA		0.418	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	
DMBT1	1755	broad.mit.edu	37	10	124339135	124339135	+	Missense_Mutation	SNP	G	G	A	rs368897345		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:124339135G>A	ENST00000338354.3	+	10	827	c.721G>A	c.(721-723)Gac>Aac	p.D241N	DMBT1_ENST00000368955.3_Missense_Mutation_p.D241N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.D241N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D241N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D241N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D241N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	241	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D241N(2)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GAATGGAGGCGACAGGTGTCG	0.547																																					p.D241N	Ovarian(182;93 2026 18125 22222 38972)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G721A	10						.	G	ASN/ASP,ASN/ASP,ASN/ASP	1,3979		0,1,1989	337.0	322.0	327.0		721,721,721	2.0	0.0	10		327	0,8364		0,0,4182	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	23,23,23	0,1,6171	AA,AG,GG		0.0,0.0251,0.0081	probably-damaging,probably-damaging,probably-damaging	241/1786,241/2414,241/2404	124339135	1,12343	1990	4182	6172	124329125	SO:0001583	missense	1755	exon10				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.721G>A	10.37:g.124339135G>A	ENSP00000342210:p.Asp241Asn		124329125	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	G	0.006	-2.046173	0.00398	2.51E-4	0.0	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66;1.66	3.96	1.97	0.26223	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.27454	0.0674	N	0.10685	0.025	0.09310	N	0.999999	D;D;B;D;D	0.89917	0.985;1.0;0.414;0.999;0.995	P;D;B;D;D	0.80764	0.637;0.994;0.031;0.969;0.932	T	0.17198	-1.0377	9	0.09843	T	0.71	.	8.4715	0.32988	0.092:0.4435:0.4645:0.0	.	241;241;241;241;241	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	N	241	ENSP00000342210:D241N;ENSP00000343175:D241N;ENSP00000327747:D241N;ENSP00000357905:D241N;ENSP00000357951:D241N;ENSP00000357952:D241N	ENSP00000331522:D241N	D	+	1	0	DMBT1	124329125	0.000000	0.05858	0.004000	0.12327	0.116000	0.19942	-1.493000	0.02298	0.241000	0.21283	0.537000	0.68136	GAC		0.547	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
DMBT1	1755	broad.mit.edu	37	10	124376761	124376761	+	Missense_Mutation	SNP	C	C	G	rs374958699		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:124376761C>G	ENST00000338354.3	+	37	4595	c.4489C>G	c.(4489-4491)Cgt>Ggt	p.R1497G	DMBT1_ENST00000368955.3_Missense_Mutation_p.R1487G|DMBT1_ENST00000359586.6_Missense_Mutation_p.R348G|DMBT1_ENST00000330163.4_Missense_Mutation_p.R869G|DMBT1_ENST00000368956.2_Missense_Mutation_p.R869G|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1487G|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1497G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1497					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.R1626G(1)|p.R1497G(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCAACCTCTCGTGCATCAAC	0.448																																					p.R1497G	Ovarian(182;93 2026 18125 22222 38972)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4489G	10						.						394.0	381.0	385.0					10																	124376761		1900	4123	6023	124366751	SO:0001583	missense	1755	exon37				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.4489C>G	10.37:g.124376761C>G	ENSP00000342210:p.Arg1497Gly		124366751	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	-	0.018	-1.481544	0.01027	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.25414	1.8;1.84;1.8;1.8;1.84;1.8;1.82	1.48	-2.96	0.05547	.	.	.	.	.	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.19445	0.0;0.007;0.018;0.036;0.0;0.002	B;B;B;B;B;B	0.23574	0.0;0.022;0.019;0.047;0.0;0.004	T	0.32052	-0.9921	9	0.22706	T	0.39	.	3.6954	0.08362	0.0:0.2654:0.4121:0.3225	.	348;746;1626;869;1487;1497	F8WEF7;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	G	1497;1626;1497;1497;1497;1497;869;1487;869;869;1497;1487;869;348	ENSP00000342210:R1497G;ENSP00000343175:R1487G;ENSP00000327747:R869G;ENSP00000357905:R1497G;ENSP00000357951:R1487G;ENSP00000357952:R869G;ENSP00000352593:R348G	ENSP00000331522:R869G	R	+	1	0	DMBT1	124366751	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.958000	0.03857	-1.249000	0.02500	-0.484000	0.04775	CGT		0.448	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
DMBT1	1755	broad.mit.edu	37	10	124380872	124380872	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:124380872G>A	ENST00000338354.3	+	41	5303	c.5197G>A	c.(5197-5199)Gaa>Aaa	p.E1733K	DMBT1_ENST00000368955.3_Missense_Mutation_p.E1723K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.E1105K|DMBT1_ENST00000368956.2_Missense_Mutation_p.E1105K|DMBT1_ENST00000344338.3_Missense_Mutation_p.E1723K|DMBT1_ENST00000368909.3_Missense_Mutation_p.E1733K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1733	SRCR 13. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.E1733K(1)|p.E1862K(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCATCACGAAGACGCTGG	0.557																																					p.E1733K	Ovarian(182;93 2026 18125 22222 38972)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5197A	10						.						81.0	78.0	79.0					10																	124380872		1950	4140	6090	124370862	SO:0001583	missense	1755	exon41				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5197G>A	10.37:g.124380872G>A	ENSP00000342210:p.Glu1733Lys		124370862	NM_007329	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	-	16.63	3.177628	0.57692	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	3.59	3.59	0.41128	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.46145	D	0.000307	T	0.71375	0.3332	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.981;0.997;0.995	D;D;P;P;D;P	0.85130	0.997;0.914;0.842;0.561;0.913;0.866	T	0.77289	-0.2643	10	0.51188	T	0.08	.	15.1483	0.72677	0.0:0.0:1.0:0.0	.	1733;982;1862;1105;1723;1733	Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;DMBT1_HUMAN	K	1733;1862;1733;1733;1733;1733;1105;1723;1105;1105;1733;1723;1105	ENSP00000342210:E1733K;ENSP00000343175:E1723K;ENSP00000327747:E1105K;ENSP00000357905:E1733K;ENSP00000357951:E1723K;ENSP00000357952:E1105K	ENSP00000331522:E1105K	E	+	1	0	DMBT1	124370862	1.000000	0.71417	0.010000	0.14722	0.030000	0.12068	4.380000	0.59581	1.959000	0.56917	0.461000	0.40582	GAA		0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
C10orf120	399814	broad.mit.edu	37	10	124457294	124457294	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:124457294A>C	ENST00000329446.4	-	3	994	c.963T>G	c.(961-963)agT>agG	p.S321R		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	321								p.S321R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTTCCAGATACTCTCTTCTT	0.418																																					p.S321R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T963G	10						.						114.0	109.0	111.0					10																	124457294		2203	4300	6503	124447284	SO:0001583	missense	399814	exon3				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.963T>G	10.37:g.124457294A>C	ENSP00000331012:p.Ser321Arg		124447284	NM_001010912	B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	A	5.695	0.312865	0.10789	.	.	ENSG00000183559	ENST00000329446	T	0.32272	1.46	3.87	-7.74	0.01241	.	1.426460	0.04136	N	0.318769	T	0.18593	0.0446	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.14117	-1.0484	10	0.38643	T	0.18	0.1396	5.0117	0.14315	0.2811:0.1088:0.5021:0.1079	.	321	Q5SQS8	CJ120_HUMAN	R	321	ENSP00000331012:S321R	ENSP00000331012:S321R	S	-	3	2	C10orf120	124447284	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.670000	0.01956	-3.107000	0.00243	-1.208000	0.01637	AGT		0.418	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912	
CUZD1	50624	broad.mit.edu	37	10	124593209	124593209	+	Nonsense_Mutation	SNP	G	G	A	rs142209822		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:124593209G>A	ENST00000368904.1	-	10	2579	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	CUZD1_ENST00000545804.1_Nonsense_Mutation_p.R544*|CUZD1_ENST00000392790.1_Nonsense_Mutation_p.R544*					CUB and zona pellucida-like domains 1									p.R544*(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CTTGCACTTCGATCCCTTTTC	0.403																																					p.R544X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1630T	10						.	G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	145.0	137.0	140.0		1630	2.1	0.2	10	dbSNP_134	140	0,8598		0,0,4299	no	stop-gained	CUZD1	NM_022034.5		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		544/608	124593209	2,13002	2203	4299	6502	124583199	SO:0001587	stop_gained	50624	exon8			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1630C>T	10.37:g.124593209G>A	ENSP00000357900:p.Arg544*		124583199	NM_022034		Nonsense_Mutation	SNP	ENST00000368904.1	37	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	G	42	9.770707	0.99260	4.54E-4	0.0	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	.	.	.	5.1	2.08	0.27032	.	0.312773	0.21904	N	0.067413	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-2.887	3.744	0.08541	0.1459:0.1616:0.5766:0.1159	.	.	.	.	X	544;263;263;178;263;544;544	.	ENSP00000340905:R178X	R	-	1	2	CUZD1	124583199	0.018000	0.18449	0.154000	0.22540	0.637000	0.38172	1.793000	0.38764	0.202000	0.20498	0.655000	0.94253	CGA		0.403	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
CUZD1	50624	broad.mit.edu	37	10	124597054	124597054	+	Silent	SNP	G	G	A	rs145122169		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:124597054G>A	ENST00000368904.1	-	6	1414	c.465C>T	c.(463-465)ggC>ggT	p.G155G	CUZD1_ENST00000545804.1_Silent_p.G155G|CUZD1_ENST00000392790.1_Silent_p.G155G					CUB and zona pellucida-like domains 1									p.G155G(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CCAGGTAACCGCCACAGTTTG	0.448													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18787	0.0		0.0	False		,,,				2504	0.0				p.G155G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C465T	10						.						90.0	96.0	94.0					10																	124597054		2203	4300	6503	124587044	SO:0001819	synonymous_variant	50624	exon4			AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.465C>T	10.37:g.124597054G>A			124587044	NM_022034		Silent	SNP	ENST00000368904.1	37	CCDS7631.1																																																																																				0.448	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
PSTK	118672	broad.mit.edu	37	10	124742302	124742302	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:124742302C>A	ENST00000368887.3	+	2	710	c.270C>A	c.(268-270)ttC>ttA	p.F90L	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000405485.1_Missense_Mutation_p.F90L	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	90					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)	p.F90L(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		TGGAATACTTCTTGATGGCTG	0.438																																					p.F90L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C270A	10						.						122.0	113.0	116.0					10																	124742302		2203	4300	6503	124732292	SO:0001583	missense	118672	exon2			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.270C>A	10.37:g.124742302C>A	ENSP00000357882:p.Phe90Leu		124732292	NM_153336	Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	CCDS7633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.753|8.753	0.921797|0.921797	0.17982|0.17982	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000368887;ENST00000405485|ENST00000406217	T;T|.	0.44482|.	0.92;0.93|.	5.61|5.61	2.52|2.52	0.30459|0.30459	.|.	0.199754|.	0.46758|.	D|.	0.000273|.	T|T	0.35624|0.35624	0.0938|0.0938	L|L	0.42581|0.42581	1.335|1.335	0.18873|0.18873	N|N	0.999981|0.999981	B|.	0.15719|.	0.014|.	B|.	0.14023|.	0.01|.	T|T	0.21314|0.21314	-1.0249|-1.0249	10|5	0.08837|.	T|.	0.75|.	-27.5301|-27.5301	5.0385|5.0385	0.14447|0.14447	0.0:0.599:0.1587:0.2423|0.0:0.599:0.1587:0.2423	.|.	90|.	Q8IV42|.	PSTK_HUMAN|.	L|Y	90|91	ENSP00000357882:F90L;ENSP00000384764:F90L|.	ENSP00000357882:F90L|.	F|S	+|+	3|2	2|0	PSTK|PSTK	124732292|124732292	0.731000|0.731000	0.28111|0.28111	0.503000|0.503000	0.27626|0.27626	0.990000|0.990000	0.78478|0.78478	0.826000|0.826000	0.27407|0.27407	1.361000|1.361000	0.45981|0.45981	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.438	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336	
EDRF1	26098	broad.mit.edu	37	10	127414363	127414363	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:127414363G>A	ENST00000356792.4	+	6	980	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	C10orf137_ENST00000337623.3_Missense_Mutation_p.E250K	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E250K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGCTCCCTTCGAAATGCCTTC	0.463																																					p.E250K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	10						.						84.0	80.0	81.0					10																	127414363		2203	4300	6503	127404353	SO:0001583	missense	26098	exon6																														ENST00000356792.4:c.748G>A	10.37:g.127414363G>A	ENSP00000349244:p.Glu250Lys		127404353	NM_015608	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616401	0.46736	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	4.59	4.59	0.56863	.	0.177491	0.53938	D	0.000042	T	0.27241	0.0668	N	0.14661	0.345	0.44816	D	0.997825	P;P;P	0.46656	0.882;0.745;0.882	B;B;B	0.33890	0.172;0.123;0.128	T	0.10683	-1.0619	9	0.16896	T	0.51	.	17.9497	0.89048	0.0:0.0:1.0:0.0	.	250;250;250	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	K	250	.	ENSP00000336727:E250K	E	+	1	0	C10orf137	127404353	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.130000	0.64745	2.545000	0.85829	0.650000	0.86243	GAA		0.463	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
EDRF1	26098	broad.mit.edu	37	10	127429632	127429632	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:127429632T>C	ENST00000356792.4	+	17	2465	c.2233T>C	c.(2233-2235)Ttg>Ctg	p.L745L	C10orf137_ENST00000337623.3_Silent_p.L711L	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		745					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L711L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCTCAATATTTGACACTTTG	0.398																																					p.L711L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2131C	10						.						161.0	158.0	159.0					10																	127429632		2203	4300	6503	127419622	SO:0001819	synonymous_variant	26098	exon16																														ENST00000356792.4:c.2233T>C	10.37:g.127429632T>C			127419622	NM_015608	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	CCDS55733.1																																																																																				0.398	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
EDRF1	26098	broad.mit.edu	37	10	127438079	127438079	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:127438079C>T	ENST00000356792.4	+	22	3454	c.3222C>T	c.(3220-3222)tgC>tgT	p.C1074C	RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000337623.3_Silent_p.C1040C|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1074					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.C1040C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATGCTCCCTGCGAACTGCTTA	0.443																																					p.C1040C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3120T	10						.						137.0	122.0	127.0					10																	127438079		2203	4300	6503	127428069	SO:0001819	synonymous_variant	26098	exon21																														ENST00000356792.4:c.3222C>T	10.37:g.127438079C>T			127428069	NM_015608	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	CCDS55733.1																																																																																				0.443	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
ADAM12	8038	broad.mit.edu	37	10	127806646	127806646	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:127806646C>A	ENST00000368679.4	-	6	882	c.573G>T	c.(571-573)aaG>aaT	p.K191N	ADAM12_ENST00000368676.4_Missense_Mutation_p.K191N	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	191					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.K191N(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GAAACACATTCTTTGCAGCGA	0.493																																					p.K191N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G573T	10						.						243.0	214.0	224.0					10																	127806646		2203	4300	6503	127796636	SO:0001583	missense	8038	exon6			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.573G>T	10.37:g.127806646C>A	ENSP00000357668:p.Lys191Asn		127796636	NM_021641	O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	c	7.619	0.676397	0.14841	.	.	ENSG00000148848	ENST00000368679;ENST00000368676;ENST00000448723	T;T;T	0.23147	4.7;1.92;3.64	4.89	-9.05	0.00730	.	1.915180	0.02528	N	0.093318	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.001;0.002;0.0	T	0.16808	-1.0390	10	0.14656	T	0.56	.	3.6441	0.08178	0.2362:0.4473:0.2144:0.1021	.	188;188;191;188;191	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	N	191;191;188	ENSP00000357668:K191N;ENSP00000357665:K191N;ENSP00000391268:K188N	ENSP00000357665:K191N	K	-	3	2	ADAM12	127796636	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.044000	0.00631	-2.091000	0.00858	-0.259000	0.10710	AAG		0.493	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1		
FAM196A	642938	broad.mit.edu	37	10	128952186	128952186	+	Splice_Site	SNP	G	G	A	rs145769109		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:128952186G>A	ENST00000522781.1	-	5	1741	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	396								p.L396F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CGATATGAAAGCCTACAAGAT	0.458																																					p.L396F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1186T	10						.	G	PHE/LEU,	1,4405	2.1+/-5.4	0,1,2202	121.0	102.0	108.0		1186,	5.8	1.0	10	dbSNP_134	108	0,8600		0,0,4300	no	missense-near-splice,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	22,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	396/480,	128952186	1,13005	2203	4300	6503	128842176	SO:0001630	splice_region_variant	642938	exon5				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.1185-1C>T	10.37:g.128952186G>A			128842176	NM_001039762	B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661233	0.67700	2.27E-4	0.0	ENSG00000188916	ENST00000522781	T	0.54675	0.56	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62530	-0.6835	10	0.44086	T	0.13	.	19.298	0.94131	0.0:0.0:1.0:0.0	.	396	Q6ZSG2	F196A_HUMAN	F	396	ENSP00000429763:L396F	ENSP00000429763:L396F	L	-	1	0	FAM196A	128842176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.375000	0.90135	2.937000	0.99478	0.650000	0.86243	CTT		0.458	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762	Missense_Mutation
MKI67	4288	broad.mit.edu	37	10	129901985	129901985	+	Missense_Mutation	SNP	C	C	T	rs375096294		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:129901985C>T	ENST00000368654.3	-	13	8494	c.8119G>A	c.(8119-8121)Gaa>Aaa	p.E2707K	MKI67_ENST00000368653.3_Missense_Mutation_p.E2347K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2707	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E2707K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGGGAGATTCGCAGGGTATT	0.517																																					p.E2347K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7039A	10						.	C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	124.0	128.0	127.0		8119,7039	-4.1	0.0	10		127	0,8600		0,0,4300	no	missense,missense	MKI67	NM_002417.4,NM_001145966.1	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	2707/3257,2347/2897	129901985	1,13005	2203	4300	6503	129791975	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8119G>A	10.37:g.129901985C>T	ENSP00000357643:p.Glu2707Lys		129791975	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.401	-0.918208	0.02396	2.27E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01887	4.58;4.58	3.69	-4.06	0.03986	.	.	.	.	.	T	0.00496	0.0016	N	0.00128	-2.045	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.45760	-0.9239	9	0.09843	T	0.71	.	4.5186	0.11949	0.0:0.3133:0.3342:0.3525	.	2706;2347;2707	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	2707;2347;2706	ENSP00000357643:E2707K;ENSP00000357642:E2347K	ENSP00000357642:E2347K	E	-	1	0	MKI67	129791975	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.009000	0.13219	-0.947000	0.03673	-0.294000	0.09567	GAA		0.517	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
OPTN	10133	broad.mit.edu	37	10	13152355	13152355	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:13152355G>A	ENST00000378748.3	+	5	610	c.248G>A	c.(247-249)cGc>cAc	p.R83H	OPTN_ENST00000378752.3_Missense_Mutation_p.R83H|OPTN_ENST00000378764.2_Missense_Mutation_p.R83H|OPTN_ENST00000263036.5_Missense_Mutation_p.R83H|OPTN_ENST00000378757.2_Missense_Mutation_p.R83H|OPTN_ENST00000482140.1_Intron|OPTN_ENST00000378747.3_Missense_Mutation_p.R83H	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	83	Interaction with Rab8.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AAGGAAGAACGCCAGTTTTTT	0.438																																					p.R83H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248A	10						.						86.0	94.0	91.0					10																	13152355		2203	4300	6503	13192361	SO:0001583	missense	10133	exon3			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.248G>A	10.37:g.13152355G>A	ENSP00000368022:p.Arg83His		13192361	NM_021980	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	CCDS7094.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638701	0.87760	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000430081;ENST00000378747	D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.98	5.08	0.68730	NF-kappa-B essential modulator NEMO, N-terminal (1);	0.050256	0.85682	N	0.000000	D	0.91546	0.7330	M	0.64997	1.995	0.49687	D	0.999814	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.91030	0.4863	10	0.44086	T	0.13	-7.0363	12.4009	0.55412	0.0786:0.0:0.9214:0.0	.	83;83	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	H	83;83;83;83;83;26;83	ENSP00000263036:R83H;ENSP00000368040:R83H;ENSP00000368032:R83H;ENSP00000368027:R83H;ENSP00000368022:R83H;ENSP00000414747:R26H;ENSP00000368021:R83H	ENSP00000263036:R83H	R	+	2	0	OPTN	13192361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.954000	0.76001	1.546000	0.49388	0.655000	0.94253	CGC		0.438	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1	NM_021980	
PHYH	5264	broad.mit.edu	37	10	13320332	13320332	+	Missense_Mutation	SNP	C	C	T	rs144085594		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:13320332C>T	ENST00000263038.4	-	9	1044	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	PHYH_ENST00000396913.2_Missense_Mutation_p.R229Q|PHYH_ENST00000396920.3_Missense_Mutation_p.R312Q	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	329					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.R329Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTCACAAGTCGAGCTCGAAA	0.358																																					p.R229Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	10						.	C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	92.0	89.0	90.0		686,986	1.8	0.0	10	dbSNP_134	90	0,8600		0,0,4300	yes	missense,missense	PHYH	NM_001037537.1,NM_006214.3	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	229/239,329/339	13320332	2,13004	2203	4300	6503	13360338	SO:0001583	missense	5264	exon8				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.986G>A	10.37:g.13320332C>T	ENSP00000263038:p.Arg329Gln		13360338	NM_001037537	A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955418	0.73902	4.54E-4	0.0	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920	D;D;D	0.90004	-2.6;-2.6;-2.6	5.67	1.83	0.25207	.	0.122745	0.56097	N	0.000025	D	0.87684	0.6239	M	0.74467	2.265	0.35719	D	0.816982	P;P	0.45283	0.855;0.855	B;B	0.42625	0.221;0.393	D	0.87633	0.2517	10	0.72032	D	0.01	-5.6956	10.1552	0.42818	0.0:0.7292:0.0:0.2708	.	312;329	B1ALH6;O14832	.;PAHX_HUMAN	Q	229;329;312	ENSP00000380121:R229Q;ENSP00000263038:R329Q;ENSP00000380126:R312Q	ENSP00000263038:R329Q	R	-	2	0	PHYH	13360338	0.836000	0.29430	0.001000	0.08648	0.571000	0.35966	1.480000	0.35464	0.090000	0.17273	0.655000	0.94253	CGA		0.358	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2		
PHYH	5264	broad.mit.edu	37	10	13337568	13337568	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:13337568C>A	ENST00000263038.4	-	3	231	c.173G>T	c.(172-174)aGa>aTa	p.R58I	PHYH_ENST00000396913.2_5'UTR|PHYH_ENST00000396920.3_Missense_Mutation_p.R39I	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	58					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)	p.R58I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	ATAAAATTTTCTCTGTTCCAG	0.328																																					p.R58I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G173T	10						.						78.0	80.0	80.0					10																	13337568		2202	4300	6502	13377574	SO:0001583	missense	5264	exon3				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.173G>T	10.37:g.13337568C>A	ENSP00000263038:p.Arg58Ile		13377574	NM_006214	A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024945	0.75390	.	.	ENSG00000107537	ENST00000263038;ENST00000396920;ENST00000479604	D;D;D	0.89552	-2.53;-2.53;-2.53	5.67	4.77	0.60923	.	0.096661	0.64402	D	0.000001	D	0.87454	0.6181	M	0.82323	2.585	0.80722	D	1	B;P	0.39157	0.312;0.662	B;B	0.37387	0.103;0.248	D	0.85517	0.1201	10	0.02654	T	1	-17.1951	14.3858	0.66942	0.0:0.9282:0.0:0.0718	.	39;58	B1ALH6;O14832	.;PAHX_HUMAN	I	58;39;58	ENSP00000263038:R58I;ENSP00000380126:R39I;ENSP00000420117:R58I	ENSP00000263038:R58I	R	-	2	0	PHYH	13377574	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.211000	0.77933	1.392000	0.46585	0.557000	0.71058	AGA		0.328	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2		
MKI67	4288	broad.mit.edu	37	10	129906102	129906102	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:129906102T>G	ENST00000368654.3	-	13	4377	c.4002A>C	c.(4000-4002)caA>caC	p.Q1334H	MKI67_ENST00000368653.3_Missense_Mutation_p.Q974H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1334	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.Q1334H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTTAGGAGTTTGTGGCCGTC	0.502																																					p.Q974H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2922C	10						.						154.0	156.0	155.0					10																	129906102		2203	4300	6503	129796092	SO:0001583	missense	4288	exon12			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4002A>C	10.37:g.129906102T>G	ENSP00000357643:p.Gln1334His		129796092	NM_001145966	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	8.234	0.805217	0.16467	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02421	4.3;4.3	4.07	-7.19	0.01500	.	0.876531	0.09488	N	0.795366	T	0.02418	0.0074	L	0.47716	1.5	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.0;0.002	T	0.37663	-0.9696	10	0.42905	T	0.14	.	3.8302	0.08871	0.1074:0.4012:0.1072:0.3842	.	1333;974;1334	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	H	1334;974;1333	ENSP00000357643:Q1334H;ENSP00000357642:Q974H	ENSP00000357642:Q974H	Q	-	3	2	MKI67	129796092	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.105000	0.01339	-2.447000	0.00545	-1.967000	0.00467	CAA		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
FAM208B	54906	broad.mit.edu	37	10	5791698	5791698	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:5791698G>A	ENST00000328090.5	+	15	6939	c.6314G>A	c.(6313-6315)cGg>cAg	p.R2105Q		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2105								p.R2105Q(1)									AAGGAATCTCGGAATGATATT	0.333																																					p.R2105Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6314A	10						.						65.0	61.0	63.0					10																	5791698		1877	4110	5987	5831704	SO:0001583	missense	54906	exon15			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6314G>A	10.37:g.5791698G>A	ENSP00000328426:p.Arg2105Gln		5831704	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831919	0.71258	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.08896	3.04	5.92	5.02	0.67125	.	0.218474	0.32301	N	0.006294	T	0.11067	0.0270	M	0.66939	2.045	0.22911	N	0.998576	D	0.57257	0.979	B	0.40410	0.328	T	0.23619	-1.0183	10	0.56958	D	0.05	.	10.827	0.46638	0.1452:0.0:0.8548:0.0	.	2105	Q5VWN6	F208B_HUMAN	Q	2105;1300	ENSP00000328426:R2105Q	ENSP00000328426:R2105Q	R	+	2	0	C10orf18	5831704	0.103000	0.21917	0.804000	0.32291	0.661000	0.39034	1.241000	0.32743	1.509000	0.48786	0.555000	0.69702	CGG		0.333	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
PFKFB3	5209	broad.mit.edu	37	10	6265970	6265970	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:6265970G>A	ENST00000379775.4	+	12	1593	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	PFKFB3_ENST00000379785.1_Silent_p.T421T|PFKFB3_ENST00000379789.4_Silent_p.T401T|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000317350.4_Silent_p.T421T|PFKFB3_ENST00000360521.2_Silent_p.T421T|PFKFB3_ENST00000379782.3_Silent_p.T421T|PFKFB3_ENST00000540253.1_Silent_p.T435T	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	421	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)	p.T421T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGAAACTGACGCCTGTCGCTT	0.557																																					p.T401T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1203A	10						.						167.0	145.0	152.0					10																	6265970		2203	4300	6503	6305976	SO:0001819	synonymous_variant	5209	exon12				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1263G>A	10.37:g.6265970G>A			6305976	NM_001145443	B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	CCDS7078.1	.	.	.	.	.	.	.	.	.	.	G	4.863	0.160420	0.09287	.	.	ENSG00000170525	ENST00000450232	.	.	.	5.1	-10.2	0.00374	.	.	.	.	.	T	0.32285	0.0824	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42103	-0.9471	4	.	.	.	-42.0972	1.1957	0.01874	0.3815:0.2681:0.1546:0.1958	.	.	.	.	T	102	.	.	A	+	1	0	PFKFB3	6305976	0.000000	0.05858	0.036000	0.18154	0.703000	0.40648	-1.517000	0.02248	-3.019000	0.00270	-0.932000	0.02703	GCC		0.557	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1		
PRKCQ	5588	broad.mit.edu	37	10	6557093	6557093	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:6557093G>A	ENST00000263125.5	-	2	104	c.5C>T	c.(4-6)tCg>tTg	p.S2L	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Missense_Mutation_p.S2L	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	2					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.S2L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AAGAAATGGCGACATGGTTGC	0.478																																					p.S2L	Ovarian(50;572 1126 10530 25349 30594)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	10						.						64.0	65.0	65.0					10																	6557093		2203	4300	6503	6597099	SO:0001583	missense	5588	exon2			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.5C>T	10.37:g.6557093G>A	ENSP00000263125:p.Ser2Leu		6597099	NM_006257	B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	ENST00000263125.5	37	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864994	0.91511	.	.	ENSG00000065675	ENST00000263125;ENST00000397176	T;T	0.69926	-0.44;-0.4	5.2	5.2	0.72013	C2 calcium/lipid-binding domain, CaLB (1);	0.079208	0.52532	D	0.000075	T	0.78033	0.4220	L	0.56769	1.78	0.80722	D	1	D;D	0.63880	0.993;0.957	P;B	0.60415	0.874;0.204	T	0.80176	-0.1491	10	0.87932	D	0	.	19.1283	0.93394	0.0:0.0:1.0:0.0	.	2;2	Q04759-2;Q04759	.;KPCT_HUMAN	L	2	ENSP00000263125:S2L;ENSP00000380361:S2L	ENSP00000263125:S2L	S	-	2	0	PRKCQ	6597099	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	8.728000	0.91484	2.584000	0.87258	0.563000	0.77884	TCG		0.478	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	
SFMBT2	57713	broad.mit.edu	37	10	7205774	7205774	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:7205774G>A	ENST00000361972.4	-	21	2733	c.2643C>T	c.(2641-2643)atC>atT	p.I881I	SFMBT2_ENST00000397167.1_Silent_p.I881I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	881	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.I881I(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGACTCTCTCGATCTGGTGGC	0.562																																					p.I881I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2643T	10						.						106.0	89.0	95.0					10																	7205774		2203	4300	6503	7245780	SO:0001819	synonymous_variant	57713	exon21			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2643C>T	10.37:g.7205774G>A			7245780	NM_001029880	A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	CCDS31138.1																																																																																				0.562	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880	
ITIH2	3698	broad.mit.edu	37	10	7762890	7762890	+	Silent	SNP	C	C	T	rs148694864	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:7762890C>T	ENST00000358415.4	+	7	868	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ITIH2_ENST00000379587.4_Silent_p.F223F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	234					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.F234F(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGCCATTTCGATGGTGTTC	0.483																																					p.F234F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C702T	10						.	C		3,4403	6.2+/-15.9	0,3,2200	162.0	136.0	145.0		702	0.4	1.0	10	dbSNP_134	145	0,8600		0,0,4300	no	coding-synonymous	ITIH2	NM_002216.2		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		234/947	7762890	3,13003	2203	4300	6503	7802896	SO:0001819	synonymous_variant	3698	exon7			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.702C>T	10.37:g.7762890C>T			7802896	NM_002216	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																				0.483	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
KIN	22944	broad.mit.edu	37	10	7811293	7811293	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:7811293A>G	ENST00000379562.4	-	8	731	c.684T>C	c.(682-684)agT>agC	p.S228S	KIN_ENST00000543003.1_Silent_p.S122S|KIN_ENST00000463666.1_5'Flank|KIN_ENST00000535925.1_Silent_p.S228S	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein									p.S228S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCTTCAGTGCACTCGGTCCCA	0.408																																					p.S228S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T684C	10						.						119.0	114.0	115.0					10																	7811293		2203	4300	6503	7851299	SO:0001819	synonymous_variant	22944	exon8			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.684T>C	10.37:g.7811293A>G			7851299	NM_012311		Silent	SNP	ENST00000379562.4	37	CCDS7080.1																																																																																				0.408	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	
FRMD4A	55691	broad.mit.edu	37	10	13749074	13749074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:13749074C>A	ENST00000357447.2	-	13	1167	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	FRMD4A_ENST00000378503.1_Nonsense_Mutation_p.E267*|AL157392.1_ENST00000410303.1_RNA|FRMD4A_ENST00000358621.4_Nonsense_Mutation_p.E252*|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000342409.2_Nonsense_Mutation_p.E283*	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	267	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.E267*(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AACTTCTTTTCTCTGAAGTAC	0.498																																					p.E267X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G799T	10						.						68.0	66.0	67.0					10																	13749074		2203	4300	6503	13789080	SO:0001587	stop_gained	55691	exon13			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.799G>T	10.37:g.13749074C>A	ENSP00000350032:p.Glu267*		13789080	NM_018027	A7E2Y3|Q5T377	Nonsense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	43	10.256193	0.99369	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-17.452	18.7074	0.91644	0.0:1.0:0.0:0.0	.	.	.	.	X	252;267;267;300;283	.	ENSP00000264546:E300X	E	-	1	0	FRMD4A	13789080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.702000	0.84576	2.516000	0.84829	0.655000	0.94253	GAA		0.498	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
NMT2	9397	broad.mit.edu	37	10	15170395	15170395	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:15170395C>A	ENST00000378165.4	-	8	1033	c.953G>T	c.(952-954)aGa>aTa	p.R318I	NMT2_ENST00000540259.1_Missense_Mutation_p.R130I|NMT2_ENST00000535341.1_Missense_Mutation_p.R305I|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.R305I	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	318					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.R318I(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						AGTCATATTTCTACTCAAGTG	0.323																																					p.R318I	Melanoma(117;1345 1645 4130 12688 30625)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G953T	10						.						86.0	90.0	88.0					10																	15170395		2202	4300	6502	15210401	SO:0001583	missense	9397	exon8			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.953G>T	10.37:g.15170395C>A	ENSP00000367407:p.Arg318Ile		15210401	NM_004808	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218278	0.95104	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.47869	0.83	5.58	5.58	0.84498	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73361	0.3577	M	0.87269	2.87	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.65874	0.939;0.939;0.939	T	0.77648	-0.2509	10	0.66056	D	0.02	-21.9982	19.5703	0.95409	0.0:1.0:0.0:0.0	.	318;305;318	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	I	318;305;349;130;305	ENSP00000367407:R318I	ENSP00000367385:R349I	R	-	2	0	NMT2	15210401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.617000	0.88574	0.655000	0.94253	AGA		0.323	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808	
NMT2	9397	broad.mit.edu	37	10	15183425	15183425	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:15183425G>A	ENST00000378165.4	-	2	322	c.242C>T	c.(241-243)tCg>tTg	p.S81L	NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000535341.1_Nonsense_Mutation_p.R54*|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R54*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	81					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.S81L(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TCTCACTTTCGAAGGCTGCTG	0.448																																					p.S81L	Melanoma(117;1345 1645 4130 12688 30625)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C242T	10						.						149.0	159.0	156.0					10																	15183425		2203	4300	6503	15223431	SO:0001583	missense	9397	exon2			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.242C>T	10.37:g.15183425G>A	ENSP00000367407:p.Ser81Leu		15223431	NM_004808	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Nonsense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.493854|7.493854	0.98319|0.98319	.|.	.|.	ENSG00000152465|ENSG00000152465	ENST00000378150;ENST00000535341|ENST00000378165;ENST00000378143	.|T	.|0.43688	.|0.94	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.098049	.|0.45126	.|D	.|0.000393	.|T	.|0.32436	.|0.0829	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;P	.|0.54772	.|0.968;0.921	.|B;B	.|0.37480	.|0.251;0.138	.|T	.|0.05920	.|-1.0856	.|10	0.19590|0.27785	T|T	0.45|0.31	-11.6737|-11.6737	20.2985|20.2985	0.98592|0.98592	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|81;81	.|B2RCF3;O60551	.|.;NMT2_HUMAN	X|L	54|81	.|ENSP00000367407:S81L	ENSP00000367392:R54X|ENSP00000367385:S81L	R|S	-|-	1|2	2|0	NMT2|NMT2	15223431|15223431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	6.684000|6.684000	0.74538|0.74538	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.448	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808	
ITGA8	8516	broad.mit.edu	37	10	15649678	15649678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:15649678G>A	ENST00000378076.3	-	17	2115	c.1762C>T	c.(1762-1764)Cga>Tga	p.R588*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	588					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.R588*(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATACTTACTCGAAGGTAAACG	0.448																																					p.R588X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1762T	10						.						226.0	240.0	235.0					10																	15649678		2203	4300	6503	15689684	SO:0001587	stop_gained	8516	exon17			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1762C>T	10.37:g.15649678G>A	ENSP00000367316:p.Arg588*		15689684	NM_003638	B0YJ31|Q5VX94	Nonsense_Mutation	SNP	ENST00000378076.3	37	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	42	9.660019	0.99231	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.84	3.87	0.44632	.	0.048423	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8008	0.57584	0.0:0.0:0.493:0.507	.	.	.	.	X	588;573	.	ENSP00000367316:R588X	R	-	1	2	ITGA8	15689684	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	2.549000	0.45803	1.459000	0.47892	0.591000	0.81541	CGA		0.448	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
CUBN	8029	broad.mit.edu	37	10	16957955	16957955	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:16957955C>A	ENST00000377833.4	-	46	7140	c.7075G>T	c.(7075-7077)Gac>Tac	p.D2359Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2359	CUB 17. {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)	p.D2359Y(1)		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)	AATAAGTTGTCTCTGTATGGA	0.413																																					p.D2359Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7075T	10						.						102.0	103.0	103.0					10																	16957955		2203	4300	6503	16997961	SO:0001583	missense	8029	exon46			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.7075G>T	10.37:g.16957955C>A	ENSP00000367064:p.Asp2359Tyr		16997961	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665943	0.67700	.	.	ENSG00000107611	ENST00000377833	T	0.29917	1.55	5.62	2.48	0.30137	CUB (5);	0.140454	0.31963	N	0.006786	T	0.51329	0.1668	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.46857	-0.9161	10	0.72032	D	0.01	.	5.6151	0.17426	0.0:0.6394:0.1608:0.1998	.	2359	O60494	CUBN_HUMAN	Y	2359	ENSP00000367064:D2359Y	ENSP00000367064:D2359Y	D	-	1	0	CUBN	16997961	1.000000	0.71417	0.006000	0.13384	0.233000	0.25261	4.507000	0.60434	0.197000	0.20387	0.644000	0.83932	GAC		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	broad.mit.edu	37	10	16960757	16960757	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:16960757C>T	ENST00000377833.4	-	45	6929	c.6864G>A	c.(6862-6864)tcG>tcA	p.S2288S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2288	CUB 16. {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)	p.S2288S(1)		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)	TTGGTGCATCCGAATCCACTC	0.423																																					p.S2288S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6864A	10						.						80.0	67.0	72.0					10																	16960757		2203	4300	6503	17000763	SO:0001819	synonymous_variant	8029	exon45			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.6864G>A	10.37:g.16960757C>T			17000763	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
CUBN	8029	broad.mit.edu	37	10	17026276	17026276	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:17026276G>T	ENST00000377833.4	-	30	4418	c.4353C>A	c.(4351-4353)atC>atA	p.I1451I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1451	CUB 9. {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)	p.I1451I(1)		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)	GGCCTCCATAGATCTAACATG	0.473																																					p.I1451I												.	.	1	Substitution - coding silent(1)	lung(1)	c.C4353A	10						.						59.0	58.0	58.0					10																	17026276		2203	4300	6503	17066282	SO:0001819	synonymous_variant	8029	exon30			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.4353C>A	10.37:g.17026276G>T			17066282	NM_001081	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	CCDS7113.1																																																																																				0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
PLXDC2	84898	broad.mit.edu	37	10	20335928	20335928	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:20335928C>T	ENST00000377252.4	+	3	1296	c.455C>T	c.(454-456)aCt>aTt	p.T152I	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Intron	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	152					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.T152I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTGTCCAATACTCATCGGCAA	0.373																																					p.T152I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C455T	10						.						90.0	89.0	89.0					10																	20335928		2203	4300	6503	20375934	SO:0001583	missense	84898	exon3			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.455C>T	10.37:g.20335928C>T	ENSP00000366460:p.Thr152Ile		20375934	NM_032812	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737031	0.89482	.	.	ENSG00000120594	ENST00000377252;ENST00000377238;ENST00000536022	T	0.75050	-0.9	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.86556	0.1838	10	0.66056	D	0.02	.	19.6295	0.95694	0.0:1.0:0.0:0.0	.	152	Q6UX71	PXDC2_HUMAN	I	152;15;138	ENSP00000366460:T152I	ENSP00000366446:T15I	T	+	2	0	PLXDC2	20375934	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.484000	0.81180	2.633000	0.89246	0.650000	0.86243	ACT		0.373	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
PLXDC2	84898	broad.mit.edu	37	10	20534332	20534332	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:20534332C>T	ENST00000377252.4	+	13	2212	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Silent_p.I408I	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	457					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I457I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTGGCCTCATCATTGGAATCC	0.488																																					p.I457I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1371T	10						.						207.0	180.0	189.0					10																	20534332		2203	4300	6503	20574338	SO:0001819	synonymous_variant	84898	exon13			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1371C>T	10.37:g.20534332C>T			20574338	NM_032812	Q96E59|Q96PD9|Q96SU9	Silent	SNP	ENST00000377252.4	37	CCDS7132.1																																																																																				0.488	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
PLXDC2	84898	broad.mit.edu	37	10	20568636	20568636	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:20568636G>A	ENST00000377252.4	+	14	2319	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.R444H	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	493					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R493H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTTCAGAGACGCCCAAGCAGA	0.393																																					p.R493H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1478A	10						.						81.0	80.0	81.0					10																	20568636		2203	4300	6503	20608642	SO:0001583	missense	84898	exon14			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1478G>A	10.37:g.20568636G>A	ENSP00000366460:p.Arg493His		20608642	NM_032812	Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734131	0.89482	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.55930	0.49;0.76	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76836	-0.2812	10	0.87932	D	0	.	20.2406	0.98372	0.0:0.0:1.0:0.0	.	444;493	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	H	493;444;356;479	ENSP00000366460:R493H;ENSP00000366450:R444H	ENSP00000366446:R356H	R	+	2	0	PLXDC2	20608642	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.018000	0.93657	2.857000	0.98124	0.650000	0.86243	CGC		0.393	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
NEBL	10529	broad.mit.edu	37	10	21074778	21074778	+	Silent	SNP	G	G	A	rs201105598		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:21074778G>A	ENST00000377122.4	-	28	3339	c.2943C>T	c.(2941-2943)atC>atT	p.I981I	NEBL_ENST00000377159.4_Silent_p.I203I|NEBL_ENST00000417816.2_Silent_p.I237I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	981	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.I981I(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACGTTGACGATGTAGTCGC	0.493													g|||	1	0.000199681	0.0	0.0014	5008	,	,		19840	0.0		0.0	False		,,,				2504	0.0				p.I981I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2943T	10						.	A	,,	0,4406		0,0,2203	135.0	110.0	118.0		,2943,711	-10.7	0.2	10		118	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,coding-synonymous,coding-synonymous	NEBL	NM_001173484.1,NM_006393.2,NM_213569.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,981/1015,237/271	21074778	1,13005	2203	4300	6503	21114784	SO:0001819	synonymous_variant	10529	exon28			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2943C>T	10.37:g.21074778G>A			21114784	NM_006393	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	CCDS7134.1																																																																																				0.493	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
NEBL	10529	broad.mit.edu	37	10	21250693	21250693	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:21250693C>T	ENST00000417816.2	-	4	618	c.265G>A	c.(265-267)Gat>Aat	p.D89N	NEBL_ENST00000377159.4_Missense_Mutation_p.D55N	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	753					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.D89N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTTCAAAATCTCTTTTGTAC	0.488																																					p.D89N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	10						.						149.0	139.0	143.0					10																	21250693		2203	4300	6503	21290699	SO:0001583	missense	10529	exon4			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.265G>A	10.37:g.21250693C>T	ENSP00000393896:p.Asp89Asn		21290699	NM_213569	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000417816.2	37	CCDS7133.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442719	0.96187	.	.	ENSG00000078114	ENST00000417816;ENST00000377159	T;T	0.54279	0.58;0.58	5.42	5.42	0.78866	.	.	.	.	.	T	0.69762	0.3147	M	0.65320	2	0.58432	D	0.999999	D	0.67145	0.996	D	0.64687	0.928	T	0.68273	-0.5452	9	0.45353	T	0.12	.	19.5873	0.95495	0.0:1.0:0.0:0.0	.	89	Q70I54	.	N	89;55	ENSP00000393896:D89N;ENSP00000366364:D55N	ENSP00000366364:D55N	D	-	1	0	NEBL	21290699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.671000	0.83941	2.702000	0.92279	0.650000	0.86243	GAT		0.488	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047112.1	NM_006393	
CASC10	399726	broad.mit.edu	37	10	21784626	21784626	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:21784626G>A	ENST00000377113.5	-	2	761	c.314C>T	c.(313-315)gCt>gTt	p.A105V	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	105								p.A105V(1)									GCAGGCATCAGCACACTCCGG	0.637											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A105V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C314T	10						.						62.0	72.0	68.0					10																	21784626		2203	4300	6503	21824632	SO:0001583	missense	399726	exon2			BC040880	CCDS31163.1	10p12.31	2013-07-17	2013-07-17	2013-07-17	ENSG00000204682	ENSG00000204682			31448	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 114"""	C10orf114		21804547	Standard	NM_001010911		Approved	bA418C1.3	uc001iqn.4	Q5T4H9	OTTHUMG00000017795	ENST00000377113.5:c.314C>T	10.37:g.21784626G>A	ENSP00000366317:p.Ala105Val	751	21824632	NM_001010911	A1L4M3	Missense_Mutation	SNP	ENST00000377113.5	37	CCDS31163.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878628	0.51801	.	.	ENSG00000204682	ENST00000377113	T	0.54675	0.56	3.81	-4.71	0.03279	.	.	.	.	.	T	0.28632	0.0709	N	0.14661	0.345	0.09310	N	1	B	0.20052	0.041	B	0.20955	0.032	T	0.25676	-1.0125	9	0.87932	D	0	-0.3303	3.9443	0.09341	0.5295:0.0:0.1698:0.3007	.	105	Q5T4H9	CJ114_HUMAN	V	105	ENSP00000366317:A105V	ENSP00000366317:A105V	A	-	2	0	C10orf114	21824632	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.296000	0.08287	-0.678000	0.05224	0.305000	0.20034	GCT		0.637	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047130.2	NM_001010911	
ARMC3	219681	broad.mit.edu	37	10	23250990	23250990	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:23250990A>C	ENST00000298032.5	+	7	799	c.715A>C	c.(715-717)Aag>Cag	p.K239Q	ARMC3_ENST00000409983.3_Missense_Mutation_p.K239Q|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.K239Q	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	239						extracellular vesicular exosome (GO:0070062)		p.K239Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCATCTTATTAAGATCCTAGA	0.333																																					p.K239Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A715C	10						.						59.0	54.0	55.0					10																	23250990		2203	4299	6502	23290996	SO:0001583	missense	219681	exon7			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.715A>C	10.37:g.23250990A>C	ENSP00000298032:p.Lys239Gln		23290996	NM_173081	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974329	0.53720	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049	T;T;T	0.18016	2.24;2.24;2.24	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.194897	0.53938	D	0.000047	T	0.37073	0.0990	M	0.72479	2.2	0.80722	D	1	B;D	0.59767	0.387;0.986	B;P	0.61275	0.14;0.886	T	0.08310	-1.0728	10	0.22109	T	0.4	-0.1701	15.8871	0.79258	1.0:0.0:0.0:0.0	.	239;239	Q5W041-4;Q5W041	.;ARMC3_HUMAN	Q	239;239;175;239	ENSP00000298032:K239Q;ENSP00000386943:K239Q;ENSP00000387288:K239Q	ENSP00000298032:K239Q	K	+	1	0	ARMC3	23290996	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	4.717000	0.61923	2.158000	0.67659	0.528000	0.53228	AAG		0.333	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
KIAA1217	56243	broad.mit.edu	37	10	24762635	24762635	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:24762635C>T	ENST00000376454.3	+	6	1355	c.1325C>T	c.(1324-1326)gCg>gTg	p.A442V	KIAA1217_ENST00000376452.3_Missense_Mutation_p.A442V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A442V|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A363V|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A160V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A160V|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A160V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A362V|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A160V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	442					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.A442V(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCAATGCAAGCGGAAATGCAT	0.517																																					p.A442V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1325T	10						.						81.0	69.0	73.0					10																	24762635		2203	4300	6503	24802641	SO:0001583	missense	56243	exon6			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1325C>T	10.37:g.24762635C>T	ENSP00000365637:p.Ala442Val		24802641	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.970093	0.34754	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.42	5.42	0.78866	.	0.180025	0.49916	D	0.000131	T	0.62073	0.2398	L	0.53249	1.67	0.34745	D	0.731135	D;D;D;P;D;D;D;D	0.89917	0.986;0.979;0.961;0.854;0.994;0.986;1.0;1.0	P;B;B;B;P;B;D;D	0.85130	0.557;0.268;0.418;0.239;0.64;0.418;0.997;0.987	T	0.68096	-0.5499	10	0.38643	T	0.18	.	12.8891	0.58061	0.0:0.9252:0.0:0.0748	.	442;442;160;160;160;160;442;442	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	V	362;442;442;160;442;442;292;363;160;160;160;160;160	ENSP00000365645:A362V;ENSP00000365639:A442V;ENSP00000392625:A442V;ENSP00000365637:A442V;ENSP00000365635:A442V;ENSP00000404798:A292V;ENSP00000389680:A363V;ENSP00000302343:A160V;ENSP00000379722:A160V;ENSP00000365634:A160V;ENSP00000379723:A160V	ENSP00000302343:A160V	A	+	2	0	KIAA1217	24802641	1.000000	0.71417	0.963000	0.40424	0.158000	0.22134	4.952000	0.63618	2.728000	0.93425	0.655000	0.94253	GCG		0.517	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
KIAA1217	56243	broad.mit.edu	37	10	24832003	24832003	+	Silent	SNP	C	C	T	rs267602449		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:24832003C>T	ENST00000376454.3	+	19	3834	c.3804C>T	c.(3802-3804)ttC>ttT	p.F1268F	KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376451.2_Silent_p.F951F|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1268					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.F1268F(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGCCAGTTTCGGTTTCTCTG	0.398																																					p.F1268F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3804T	10						.						34.0	36.0	35.0					10																	24832003		2200	4300	6500	24872009	SO:0001819	synonymous_variant	56243	exon19			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.3804C>T	10.37:g.24832003C>T			24872009	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																				0.398	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
KIAA1217	56243	broad.mit.edu	37	10	24832967	24832967	+	Missense_Mutation	SNP	C	C	T	rs373521321		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:24832967C>T	ENST00000376454.3	+	19	4798	c.4768C>T	c.(4768-4770)Cgc>Tgc	p.R1590C	KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376451.2_Missense_Mutation_p.R1273C|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1590					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.R1590C(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCAAGCCATTCGCACCGGAAC	0.478																																					p.R1590C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4768T	10						.	C	CYS/ARG,,	1,4405	2.1+/-5.4	0,1,2202	97.0	100.0	99.0		4768,,	4.4	1.0	10		99	0,8600		0,0,4300	no	missense,intron,intron	KIAA1217	NM_019590.3,NM_001098500.1,NM_001098501.1	180,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,,	1590/1944,,	24832967	1,13005	2203	4300	6503	24872973	SO:0001583	missense	56243	exon19			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.4768C>T	10.37:g.24832967C>T	ENSP00000365637:p.Arg1590Cys		24872973	NM_019590	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484561	0.63962	2.27E-4	0.0	ENSG00000120549	ENST00000442879;ENST00000376454;ENST00000450158;ENST00000376451	T;T	0.51071	1.15;0.72	5.35	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.947	T	0.70974	-0.4726	10	0.72032	D	0.01	.	15.2992	0.73933	0.1413:0.8587:0.0:0.0	.	1273;1273;1590	C9JRK3;Q5T5P2-3;Q5T5P2	.;.;SKT_HUMAN	C	1273;1590;1273;1273	ENSP00000365637:R1590C;ENSP00000365634:R1273C	ENSP00000365634:R1273C	R	+	1	0	KIAA1217	24872973	1.000000	0.71417	0.993000	0.49108	0.867000	0.49689	4.552000	0.60747	1.222000	0.43521	0.561000	0.74099	CGC		0.478	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590	
GPR158	57512	broad.mit.edu	37	10	25839968	25839968	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:25839968C>T	ENST00000376351.3	+	6	1827	c.1468C>T	c.(1468-1470)Ctc>Ttc	p.L490F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	490					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L490F(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGCTCGTCTTCTCGGTTTTGC	0.393																																					p.L490F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1468T	10						.						296.0	255.0	269.0					10																	25839968		2203	4300	6503	25879974	SO:0001583	missense	57512	exon6			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1468C>T	10.37:g.25839968C>T	ENSP00000365529:p.Leu490Phe		25879974	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180036	0.78564	.	.	ENSG00000151025	ENST00000376351	D	0.90261	-2.64	5.47	5.47	0.80525	GPCR, family 3, C-terminal (2);	0.000000	0.56097	D	0.000024	D	0.95014	0.8386	M	0.86178	2.8	0.50313	D	0.999868	D	0.89917	1.0	D	0.97110	1.0	D	0.94881	0.8039	10	0.72032	D	0.01	.	10.2159	0.43168	0.0:0.8519:0.0:0.1481	.	490	Q5T848	GP158_HUMAN	F	490	ENSP00000365529:L490F	ENSP00000365529:L490F	L	+	1	0	GPR158	25879974	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	3.558000	0.53749	2.724000	0.93272	0.650000	0.86243	CTC		0.393	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
GPR158	57512	broad.mit.edu	37	10	25885597	25885597	+	Missense_Mutation	SNP	G	G	A	rs367760867		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:25885597G>A	ENST00000376351.3	+	10	2383	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	675					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R675Q(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AATAACCCACGAGATGATATT	0.408																																					p.R675Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2024A	10						.	G	GLN/ARG	0,4406		0,0,2203	123.0	100.0	108.0		2024	6.0	0.8	10		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR158	NM_020752.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	675/1216	25885597	1,13005	2203	4300	6503	25925603	SO:0001583	missense	57512	exon10			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2024G>A	10.37:g.25885597G>A	ENSP00000365529:p.Arg675Gln		25925603	NM_020752	Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	37	6.017467	0.97205	0.0	1.16E-4	ENSG00000151025	ENST00000376351	T	0.62364	0.03	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000004	T	0.75874	0.3909	M	0.72353	2.195	0.58432	D	0.99999	D	0.67145	0.996	P	0.56088	0.791	T	0.75130	-0.3426	10	0.51188	T	0.08	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	675	Q5T848	GP158_HUMAN	Q	675	ENSP00000365529:R675Q	ENSP00000365529:R675Q	R	+	2	0	GPR158	25925603	1.000000	0.71417	0.766000	0.31476	0.970000	0.65996	7.581000	0.82535	2.861000	0.98227	0.655000	0.94253	CGA		0.408	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
MYO3A	53904	broad.mit.edu	37	10	26446395	26446395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:26446395C>T	ENST00000265944.5	+	26	3116	c.2950C>T	c.(2950-2952)Cga>Tga	p.R984*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	984	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R984*(3)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAAGAATTCGAAGACTAGG	0.363																																					p.R984X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C2950T	10						.						113.0	110.0	111.0					10																	26446395		2203	4300	6503	26486401	SO:0001587	stop_gained	53904	exon26			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2950C>T	10.37:g.26446395C>T	ENSP00000265944:p.Arg984*		26486401	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	42	9.671764	0.99234	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8211	0.92097	0.0:1.0:0.0:0.0	.	.	.	.	X	984	.	ENSP00000265944:R984X	R	+	1	2	MYO3A	26486401	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.217000	0.51184	2.524000	0.85096	0.655000	0.94253	CGA		0.363	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MYO3A	53904	broad.mit.edu	37	10	26463040	26463040	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:26463040A>C	ENST00000265944.5	+	30	4013	c.3847A>C	c.(3847-3849)Aaa>Caa	p.K1283Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1283					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K1283Q(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCCTTTAAAAAAACTTTGGA	0.403																																					p.K1283Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3847C	10						.						53.0	58.0	56.0					10																	26463040		2203	4300	6503	26503046	SO:0001583	missense	53904	exon30			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3847A>C	10.37:g.26463040A>C	ENSP00000265944:p.Lys1283Gln		26503046	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	6.188	0.402894	0.11696	.	.	ENSG00000095777	ENST00000265944	T	0.77877	-1.13	5.22	1.28	0.21552	.	1.317880	0.04470	N	0.375813	T	0.63307	0.2500	L	0.27053	0.805	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.43163	-0.9408	10	0.27082	T	0.32	.	2.8948	0.05687	0.6285:0.1498:0.0782:0.1435	.	1283	Q8NEV4	MYO3A_HUMAN	Q	1283	ENSP00000265944:K1283Q	ENSP00000265944:K1283Q	K	+	1	0	MYO3A	26503046	0.955000	0.32602	0.000000	0.03702	0.040000	0.13550	2.019000	0.41001	0.288000	0.22398	0.460000	0.39030	AAA		0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
APBB1IP	54518	broad.mit.edu	37	10	26800678	26800678	+	Silent	SNP	C	C	T	rs143340134		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:26800678C>T	ENST00000376236.4	+	7	989	c.534C>T	c.(532-534)ctC>ctT	p.L178L	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	178	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.L178L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ATCCTCAGCTCGTCGTCAAGG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		17947	0.001		0.0	False		,,,				2504	0.0				p.L178L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C534T	10						.	C		1,4405	2.1+/-5.4	0,1,2202	92.0	83.0	86.0		534	-11.3	0.4	10	dbSNP_134	86	0,8600		0,0,4300	no	coding-synonymous	APBB1IP	NM_019043.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		178/667	26800678	1,13005	2203	4300	6503	26840684	SO:0001819	synonymous_variant	54518	exon7			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.534C>T	10.37:g.26800678C>T			26840684	NM_019043	Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	CCDS31167.1																																																																																				0.468	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043	
APBB1IP	54518	broad.mit.edu	37	10	26825090	26825090	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:26825090C>T	ENST00000376236.4	+	10	1443	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	330	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.R330C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CTGGAAAAGGCGCTATTTTCT	0.348																																					p.R330C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C988T	10						.						104.0	121.0	115.0					10																	26825090		2203	4300	6503	26865096	SO:0001583	missense	54518	exon10			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.988C>T	10.37:g.26825090C>T	ENSP00000365411:p.Arg330Cys		26865096	NM_019043	Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115562	0.94339	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.29142	1.58	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.046152	0.85682	D	0.000000	T	0.55924	0.1951	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.45469	-0.9259	10	0.40728	T	0.16	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	330;330	B4E100;Q7Z5R6	.;AB1IP_HUMAN	C	330	ENSP00000365411:R330C	ENSP00000365411:R330C	R	+	1	0	APBB1IP	26865096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.814000	0.96858	0.655000	0.94253	CGC		0.348	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043	
ANKRD26	22852	broad.mit.edu	37	10	27294607	27294607	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:27294607G>T	ENST00000376087.4	-	34	5210	c.5045C>A	c.(5044-5046)tCt>tAt	p.S1682Y	ANKRD26_ENST00000376070.3_Missense_Mutation_p.S1239Y|ANKRD26_ENST00000436985.2_Missense_Mutation_p.S1698Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1681					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.S1682Y(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTCATCAGTAGACCCTAGAGG	0.313																																					p.S1682Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5045A	10						.						87.0	84.0	85.0					10																	27294607		1808	4071	5879	27334613	SO:0001583	missense	22852	exon34			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.5045C>A	10.37:g.27294607G>T	ENSP00000365255:p.Ser1682Tyr		27334613	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018868	0.54576	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.48522	3.37;0.81;0.85	4.88	1.45	0.22620	.	.	.	.	.	T	0.48732	0.1516	L	0.54323	1.7	0.09310	N	1	P;P;P	0.43701	0.815;0.718;0.718	P;B;B	0.46389	0.515;0.316;0.246	T	0.39921	-0.9590	9	0.87932	D	0	.	10.0063	0.41959	0.1787:0.0:0.8213:0.0	.	1682;1681;1698	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Y	1239;1682;1698	ENSP00000365238:S1239Y;ENSP00000365255:S1682Y;ENSP00000405112:S1698Y	ENSP00000365238:S1239Y	S	-	2	0	ANKRD26	27334613	0.011000	0.17503	0.000000	0.03702	0.385000	0.30292	1.815000	0.38981	0.063000	0.16370	0.313000	0.20887	TCT		0.313	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ANKRD26	22852	broad.mit.edu	37	10	27311494	27311494	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:27311494T>C	ENST00000376087.4	-	29	4373	c.4208A>G	c.(4207-4209)aAa>aGa	p.K1403R	ANKRD26_ENST00000376070.3_Missense_Mutation_p.K960R|ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1419R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1402					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.K1403R(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TACCTTATGTTTTAGCTTATT	0.254																																					p.K1403R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4208G	10						.						36.0	35.0	36.0					10																	27311494		1775	4013	5788	27351500	SO:0001583	missense	22852	exon29			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4208A>G	10.37:g.27311494T>C	ENSP00000365255:p.Lys1403Arg		27351500	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	7.773	0.707892	0.15239	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.79247	-1.25;-1.25;-1.25	4.14	1.47	0.22746	.	0.103887	0.39341	U	0.001387	T	0.62998	0.2474	L	0.40543	1.245	0.25811	N	0.984393	P;B;P	0.49783	0.492;0.36;0.928	B;B;B	0.42062	0.121;0.056;0.374	T	0.56007	-0.8050	10	0.33141	T	0.24	.	4.0244	0.09680	0.2402:0.1045:0.0:0.6553	.	1403;1402;1419	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	R	960;1403;1419	ENSP00000365238:K960R;ENSP00000365255:K1403R;ENSP00000405112:K1419R	ENSP00000365238:K960R	K	-	2	0	ANKRD26	27351500	1.000000	0.71417	0.052000	0.19188	0.287000	0.27160	0.949000	0.29109	0.039000	0.15632	0.379000	0.24179	AAA		0.254	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
ANKRD26	22852	broad.mit.edu	37	10	27311576	27311576	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:27311576C>T	ENST00000376087.4	-	29	4291	c.4126G>A	c.(4126-4128)Gaa>Aaa	p.E1376K	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E933K|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1392K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1375					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E1376K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTCATATTCATTTAACTTC	0.249																																					p.E1376K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4126A	10						.						51.0	51.0	51.0					10																	27311576		1775	4024	5799	27351582	SO:0001583	missense	22852	exon29			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4126G>A	10.37:g.27311576C>T	ENSP00000365255:p.Glu1376Lys		27351582	NM_014915	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597376	0.28445	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	D;D;D	0.81659	-1.52;-1.52;-1.52	4.59	2.73	0.32206	.	0.225829	0.28533	U	0.015009	T	0.73434	0.3586	L	0.48642	1.525	0.36647	D	0.877165	B;B;B	0.25563	0.129;0.079;0.079	B;B;B	0.30572	0.117;0.055;0.055	T	0.69533	-0.5120	10	0.38643	T	0.18	.	9.1139	0.36746	0.0:0.8159:0.0:0.1841	.	1376;1375;1392	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	K	933;1376;1392	ENSP00000365238:E933K;ENSP00000365255:E1376K;ENSP00000405112:E1392K	ENSP00000365238:E933K	E	-	1	0	ANKRD26	27351582	0.945000	0.32115	0.154000	0.22540	0.083000	0.17756	1.422000	0.34826	0.481000	0.27557	0.462000	0.41574	GAA		0.249	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
YME1L1	10730	broad.mit.edu	37	10	27411836	27411836	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:27411836C>A	ENST00000326799.3	-	12	1488	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	YME1L1_ENST00000375972.3_Missense_Mutation_p.R357I|YME1L1_ENST00000376016.3_Missense_Mutation_p.R390I|YME1L1_ENST00000463270.1_5'Flank	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	447					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R447I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATTCAATTCTCTTCCCACC	0.348																																					p.R390I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1169T	10						.						133.0	122.0	126.0					10																	27411836		2203	4300	6503	27451842	SO:0001583	missense	10730	exon11			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1340G>T	10.37:g.27411836C>A	ENSP00000318480:p.Arg447Ile		27451842	NM_014263	B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	35	5.438936	0.96168	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	T;T;T	0.79352	-1.26;-1.26;-1.26	5.49	5.49	0.81192	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.94761	0.7936	10	0.87932	D	0	-15.5278	19.371	0.94484	0.0:1.0:0.0:0.0	.	357;390;447	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	I	390;447;447;357;193	ENSP00000365184:R390I;ENSP00000318480:R447I;ENSP00000365139:R357I	ENSP00000318480:R447I	R	-	2	0	YME1L1	27451842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.802000	0.85969	2.586000	0.87340	0.650000	0.86243	AGA		0.348	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312	
ARMC4	55130	broad.mit.edu	37	10	28272885	28272885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:28272885G>A	ENST00000305242.5	-	6	798	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ARMC4_ENST00000239715.3_Nonsense_Mutation_p.R93*|ARMC4_ENST00000545014.1_5'Flank|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	236					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R236*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGTGGGGCTCGACATCCATTT	0.423																																					p.R236X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C706T	10						.						63.0	60.0	61.0					10																	28272885		2203	4300	6503	28312891	SO:0001587	stop_gained	55130	exon6			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.706C>T	10.37:g.28272885G>A	ENSP00000306410:p.Arg236*		28312891	NM_018076	A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	g	39	7.325537	0.98214	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	.	.	.	5.67	3.8	0.43715	.	0.124638	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9369	9.9009	0.41346	0.0656:0.0:0.6722:0.2622	.	.	.	.	X	236;130;93	.	ENSP00000239715:R93X	R	-	1	2	ARMC4	28312891	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	3.429000	0.52800	0.716000	0.32124	-1.095000	0.02154	CGA		0.423	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
KIAA1462	57608	broad.mit.edu	37	10	30316271	30316271	+	Missense_Mutation	SNP	G	G	A	rs561305333	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:30316271G>A	ENST00000375377.1	-	3	2907	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	936					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.R936C(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTCCACGCGAAAGCGGCCC	0.607																																					p.R936C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2806T	10						.						43.0	46.0	45.0					10																	30316271		2086	4216	6302	30356277	SO:0001583	missense	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2806C>T	10.37:g.30316271G>A	ENSP00000364526:p.Arg936Cys		30356277	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253267	0.39797	.	.	ENSG00000165757	ENST00000375377	T	0.11712	2.75	5.3	1.26	0.21427	.	1.135720	0.06562	N	0.746938	T	0.10423	0.0255	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	P	0.49953	0.627	T	0.36744	-0.9735	10	0.46703	T	0.11	1.0433	7.6308	0.28238	0.0598:0.097:0.5444:0.2988	.	936	Q9P266	K1462_HUMAN	C	936	ENSP00000364526:R936C	ENSP00000364526:R936C	R	-	1	0	KIAA1462	30356277	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.615000	0.24329	-0.243000	0.09653	-1.119000	0.02030	CGC		0.607	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
KIAA1462	57608	broad.mit.edu	37	10	30317421	30317421	+	Silent	SNP	G	G	A	rs200409549		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:30317421G>A	ENST00000375377.1	-	3	1757	c.1656C>T	c.(1654-1656)tgC>tgT	p.C552C		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	552					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.C552C(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTTGAGTTTCGCAGGTGCTCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19391	0.001		0.0	False		,,,				2504	0.0				p.C552C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1656T	10						.						101.0	103.0	103.0					10																	30317421		1931	4152	6083	30357427	SO:0001819	synonymous_variant	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1656C>T	10.37:g.30317421G>A			30357427	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																				0.493	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
KIAA1462	57608	broad.mit.edu	37	10	30318409	30318409	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:30318409G>A	ENST00000375377.1	-	3	769	c.668C>T	c.(667-669)tCt>tTt	p.S223F		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	223					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.S223F(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTTGTTTTGAGAATTCAACAC	0.458																																					p.S223F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C668T	10						.						160.0	158.0	159.0					10																	30318409		1984	4161	6145	30358415	SO:0001583	missense	57608	exon3			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.668C>T	10.37:g.30318409G>A	ENSP00000364526:p.Ser223Phe		30358415	NM_020848	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660433	0.29515	.	.	ENSG00000165757	ENST00000375377	T	0.19806	2.12	5.35	4.44	0.53790	.	0.691091	0.15033	N	0.284340	T	0.35364	0.0929	M	0.64997	1.995	0.09310	N	1	D	0.55172	0.97	P	0.56042	0.79	T	0.14309	-1.0477	10	0.87932	D	0	-9.2153	9.2909	0.37786	0.0761:0.1455:0.7783:0.0	.	223	Q9P266	K1462_HUMAN	F	223	ENSP00000364526:S223F	ENSP00000364526:S223F	S	-	2	0	KIAA1462	30358415	1.000000	0.71417	0.003000	0.11579	0.006000	0.05464	5.669000	0.68081	1.255000	0.44051	0.655000	0.94253	TCT		0.458	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
ZNF438	220929	broad.mit.edu	37	10	31137713	31137713	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:31137713G>A	ENST00000361310.3	-	6	1950	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	ZNF438_ENST00000444692.2_Missense_Mutation_p.R531C|ZNF438_ENST00000442986.1_Missense_Mutation_p.R541C|ZNF438_ENST00000331737.6_Missense_Mutation_p.R531C|ZNF438_ENST00000413025.1_Missense_Mutation_p.R541C|ZNF438_ENST00000538351.2_Missense_Mutation_p.R492C|ZNF438_ENST00000436087.2_Missense_Mutation_p.R541C|ZNF438_ENST00000452305.1_Missense_Mutation_p.R531C|ZNF438_ENST00000375311.1_Missense_Mutation_p.R105C			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	541					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R541C(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TAGGACTTGCGACAAATCCGA	0.478																																					p.R531C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1591T	10						.						256.0	251.0	253.0					10																	31137713		2203	4300	6503	31177719	SO:0001583	missense	220929	exon7			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1621C>T	10.37:g.31137713G>A	ENSP00000354663:p.Arg541Cys		31177719	NM_001143771	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.077041	0.55753	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45	5.4	4.49	0.54785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048881	0.85682	D	0.000000	T	0.33498	0.0865	L	0.42245	1.32	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.04103	-1.0977	10	0.59425	D	0.04	-16.6269	13.7573	0.62943	0.0:0.0:0.7218:0.2782	.	541;531	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	C	531;541;541;541;541;531;531;492;260;105	ENSP00000333571:R531C;ENSP00000354663:R541C;ENSP00000406934:R541C;ENSP00000412363:R541C;ENSP00000387546:R541C;ENSP00000413060:R531C;ENSP00000410898:R531C;ENSP00000445461:R492C;ENSP00000364460:R105C	ENSP00000333571:R531C	R	-	1	0	ZNF438	31177719	1.000000	0.71417	0.867000	0.34043	0.368000	0.29767	4.727000	0.61993	1.257000	0.44085	0.591000	0.81541	CGC		0.478	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755	
ARHGAP12	94134	broad.mit.edu	37	10	32101702	32101702	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:32101702T>G	ENST00000344936.2	-	15	2118	c.1884A>C	c.(1882-1884)aaA>aaC	p.K628N	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.K623N|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.K576N|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.K576N|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.K598N	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	628					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.K628N(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TCTTTAAGTTTTTCTTGGTTT	0.313																																					p.K628N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1884C	10						.						113.0	118.0	116.0					10																	32101702		2202	4300	6502	32141708	SO:0001583	missense	94134	exon15			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1884A>C	10.37:g.32101702T>G	ENSP00000345808:p.Lys628Asn		32141708	NM_018287	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	ENST00000344936.2	37	CCDS7170.1	.	.	.	.	.	.	.	.	.	.	T	13.57	2.276776	0.40294	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.74	3.39	0.38822	.	0.422563	0.27181	N	0.020544	T	0.15782	0.0380	N	0.03154	-0.405	0.34833	D	0.739877	B;B;B;B;B;B	0.09022	0.001;0.001;0.002;0.001;0.001;0.002	B;B;B;B;B;B	0.11329	0.002;0.003;0.006;0.003;0.003;0.006	T	0.14144	-1.0483	10	0.21540	T	0.41	.	9.8835	0.41247	0.0:0.2004:0.0:0.7996	.	581;598;598;623;628;576	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	N	576;598;628;623;576	ENSP00000310984:K576N;ENSP00000364399:K598N;ENSP00000345808:K628N;ENSP00000379448:K623N;ENSP00000364394:K576N	ENSP00000310984:K576N	K	-	3	2	ARHGAP12	32141708	0.957000	0.32711	1.000000	0.80357	0.998000	0.95712	0.011000	0.13264	0.432000	0.26286	0.533000	0.62120	AAA		0.313	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
ARHGAP12	94134	broad.mit.edu	37	10	32197508	32197508	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:32197508C>T	ENST00000344936.2	-	3	510	c.276G>A	c.(274-276)acG>acA	p.T92T	ARHGAP12_ENST00000396144.4_Silent_p.T92T|ARHGAP12_ENST00000311380.4_Silent_p.T92T|ARHGAP12_ENST00000375245.4_Silent_p.T92T|ARHGAP12_ENST00000375250.5_Silent_p.T92T	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	92					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T92T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GCATTATTTTCGTGGAGTTAT	0.453																																					p.T92T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G276A	10						.						83.0	76.0	79.0					10																	32197508		2203	4300	6503	32237514	SO:0001819	synonymous_variant	94134	exon3			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.276G>A	10.37:g.32197508C>T			32237514	NM_018287	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Silent	SNP	ENST00000344936.2	37	CCDS7170.1																																																																																				0.453	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1		
KIF5B	3799	broad.mit.edu	37	10	32323760	32323760	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:32323760T>G	ENST00000302418.4	-	11	1426	c.969A>C	c.(967-969)aaA>aaC	p.K323N		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	323	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K323N(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCTTAATTGTTTTGGCCCTAA	0.299			T	"""RET, ALK"""	NSCLC																																p.K323N			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A969C	10						.						63.0	60.0	61.0					10																	32323760		2203	4300	6503	32363766	SO:0001583	missense	3799	exon11			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.969A>C	10.37:g.32323760T>G	ENSP00000307078:p.Lys323Asn		32363766	NM_004521	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516502	0.85495	.	.	ENSG00000170759	ENST00000302418	T	0.79033	-1.23	5.26	4.13	0.48395	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.90705	3.14	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.86828	0.2009	10	0.87932	D	0	.	3.1667	0.06538	0.0:0.3803:0.0:0.6197	.	323	P33176	KINH_HUMAN	N	323	ENSP00000307078:K323N	ENSP00000307078:K323N	K	-	3	2	KIF5B	32363766	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.075000	0.71261	1.971000	0.57363	0.460000	0.39030	AAA		0.299	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
ITGB1	3688	broad.mit.edu	37	10	33209282	33209282	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:33209282C>T	ENST00000396033.2	-	10	1295	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D	ITGB1_ENST00000423113.1_Missense_Mutation_p.G387D|ITGB1_ENST00000374956.4_Missense_Mutation_p.G387D|ITGB1_ENST00000302278.3_Missense_Mutation_p.G387D	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	387					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.G387D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TGACAATTTGCCGTTTTCCAA	0.363																																					p.G387D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1160A	10						.						125.0	109.0	114.0					10																	33209282		2203	4300	6503	33249288	SO:0001583	missense	3688	exon10			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1160G>A	10.37:g.33209282C>T	ENSP00000379350:p.Gly387Asp		33249288	NM_133376	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387427	0.42308	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.19	4.26	0.50523	Integrin beta subunit, N-terminal (2);	0.160324	0.64402	D	0.000002	T	0.77731	0.4174	N	0.01649	-0.78	0.27876	N	0.939853	B;B;B;B;B	0.21147	0.015;0.019;0.008;0.0;0.052	B;B;B;B;B	0.30105	0.068;0.111;0.06;0.002;0.075	T	0.66344	-0.5947	10	0.11794	T	0.64	.	9.858	0.41096	0.0:0.6621:0.2648:0.0732	.	387;387;387;387;387	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	D	387	ENSP00000379350:G387D;ENSP00000388694:G387D;ENSP00000303351:G387D;ENSP00000364094:G387D	ENSP00000303351:G387D	G	-	2	0	ITGB1	33249288	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	2.628000	0.46477	1.151000	0.42436	0.467000	0.42956	GGC		0.363	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
ITGB1	3688	broad.mit.edu	37	10	33218856	33218856	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:33218856C>A	ENST00000396033.2	-	4	405	c.270G>T	c.(268-270)aaG>aaT	p.K90N	ITGB1_ENST00000423113.1_Missense_Mutation_p.K90N|ITGB1_ENST00000374956.4_Missense_Mutation_p.K90N|ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Missense_Mutation_p.K90N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	90					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.K90N(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TTTTATTTTTCTTTATATCTT	0.408																																					p.K90N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G270T	10						.						194.0	200.0	198.0					10																	33218856		2203	4300	6503	33258862	SO:0001583	missense	3688	exon4			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.270G>T	10.37:g.33218856C>A	ENSP00000379350:p.Lys90Asn		33258862	NM_133376	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	9.662	1.144412	0.21205	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956;ENST00000480226;ENST00000474568;ENST00000488494;ENST00000534049;ENST00000437302;ENST00000475184;ENST00000528877	D;D;D;D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.48	3.6	0.41247	Integrin beta subunit, N-terminal (2);	0.221284	0.38959	N	0.001519	T	0.74951	0.3784	N	0.02539	-0.55	0.28061	N	0.932952	B;B;B;B;B	0.22541	0.0;0.0;0.0;0.071;0.0	B;B;B;B;B	0.23574	0.001;0.001;0.001;0.047;0.001	T	0.62144	-0.6916	10	0.21540	T	0.41	.	3.2156	0.06697	0.1256:0.4447:0.296:0.1336	.	90;90;90;90;90	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	N	90;90;90;90;90;33;93;90;90;90;90	ENSP00000379350:K90N;ENSP00000388694:K90N;ENSP00000303351:K90N;ENSP00000364094:K90N;ENSP00000417537:K90N;ENSP00000420282:K33N;ENSP00000418725:K93N;ENSP00000431326:K90N;ENSP00000398029:K90N;ENSP00000417243:K90N;ENSP00000436214:K90N	ENSP00000303351:K90N	K	-	3	2	ITGB1	33258862	0.556000	0.26538	1.000000	0.80357	0.994000	0.84299	-0.225000	0.09151	2.572000	0.86782	0.585000	0.79938	AAG		0.408	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
CCNY	219771	broad.mit.edu	37	10	35805548	35805548	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:35805548A>C	ENST00000374704.4	+	4	542	c.362A>C	c.(361-363)aAa>aCa	p.K121T	CCNY_ENST00000265375.9_Missense_Mutation_p.K67T|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000374706.1_Missense_Mutation_p.K67T|CCNY_ENST00000339497.5_Missense_Mutation_p.K96T	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	121					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.K67T(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TATACAATTAAATGGTGGGTA	0.343																																					p.K121T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A362C	10						.						127.0	116.0	120.0					10																	35805548		2203	4300	6503	35845554	SO:0001583	missense	219771	exon4			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.362A>C	10.37:g.35805548A>C	ENSP00000363836:p.Lys121Thr		35845554	NM_145012	B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.944176	0.92593	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375	T;T;T;T	0.37058	1.26;1.22;1.26;1.26	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.964	T	0.67799	-0.5577	10	0.87932	D	0	-9.3051	15.3292	0.74193	1.0:0.0:0.0:0.0	.	96;121	Q8ND76-2;Q8ND76	.;CCNY_HUMAN	T	67;121;121;96;67	ENSP00000363838:K67T;ENSP00000363836:K121T;ENSP00000344275:K96T;ENSP00000265375:K67T	ENSP00000265375:K67T	K	+	2	0	CCNY	35845554	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.262000	0.95591	2.291000	0.77112	0.533000	0.62120	AAA		0.343	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2	NM_181698	
ZNF37A	7587	broad.mit.edu	37	10	38406336	38406336	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:38406336G>T	ENST00000361085.5	+	7	602	c.257G>T	c.(256-258)aGa>aTa	p.R86I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.R86I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R86I(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATACCAGTAGAAACTATTCA	0.308																																					p.R86I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G257T	10						.						50.0	59.0	56.0					10																	38406336		2197	4281	6478	38446342	SO:0001583	missense	7587	exon8			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.257G>T	10.37:g.38406336G>T	ENSP00000354377:p.Arg86Ile		38446342	NM_001007094	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	5.320	0.244418	0.10077	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07444	3.19;3.19	2.04	-0.00378	0.14025	.	.	.	.	.	T	0.07098	0.0180	L	0.42529	1.33	0.19775	N	0.999958	B	0.24618	0.107	B	0.22753	0.041	T	0.35325	-0.9793	9	0.44086	T	0.13	.	4.9987	0.14253	0.5084:0.0:0.4916:0.0	.	86	P17032	ZN37A_HUMAN	I	86	ENSP00000329141:R86I;ENSP00000354377:R86I	ENSP00000329141:R86I	R	+	2	0	ZNF37A	38446342	0.102000	0.21896	0.225000	0.23894	0.924000	0.55760	0.967000	0.29344	-0.154000	0.11118	0.591000	0.81541	AGA		0.308	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	
ZNF37A	7587	broad.mit.edu	37	10	38406698	38406698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:38406698G>T	ENST00000361085.5	+	7	964	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.E207*	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	207					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E207*(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TGAATGTGGAGAAAATATCTT	0.373																																					p.E207X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G619T	10						.						76.0	74.0	75.0					10																	38406698		2203	4300	6503	38446704	SO:0001587	stop_gained	7587	exon8			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.619G>T	10.37:g.38406698G>T	ENSP00000354377:p.Glu207*		38446704	NM_001007094	B3KRQ3|D3DRZ3|Q96B88	Nonsense_Mutation	SNP	ENST00000361085.5	37	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781864	0.31502	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	.	.	.	1.78	-0.134	0.13481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.1334	0.10159	0.3847:0.0:0.6153:0.0	.	.	.	.	X	207	.	ENSP00000329141:E207X	E	+	1	0	ZNF37A	38446704	0.294000	0.24380	0.014000	0.15608	0.004000	0.04260	0.596000	0.24044	-0.042000	0.13535	-0.469000	0.05056	GAA		0.373	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	
ZNF37A	7587	broad.mit.edu	37	10	38406884	38406884	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:38406884A>C	ENST00000361085.5	+	7	1150	c.805A>C	c.(805-807)Aaa>Caa	p.K269Q	ZNF37A_ENST00000351773.3_Missense_Mutation_p.K269Q	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K269Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TACAGGAGAAAAACCTTATGA	0.368																																					p.K269Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A805C	10						.						71.0	75.0	74.0					10																	38406884		2203	4299	6502	38446890	SO:0001583	missense	7587	exon8			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.805A>C	10.37:g.38406884A>C	ENSP00000354377:p.Lys269Gln		38446890	NM_001007094	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	A	8.506	0.865482	0.17250	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.27104	1.69;1.69	2.38	1.15	0.20763	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32285	0.0824	M	0.87456	2.885	0.26331	N	0.977517	B	0.18741	0.03	B	0.17098	0.017	T	0.36601	-0.9741	9	0.87932	D	0	.	6.5402	0.22377	0.7525:0.2475:0.0:0.0	.	269	P17032	ZN37A_HUMAN	Q	269	ENSP00000329141:K269Q;ENSP00000354377:K269Q	ENSP00000329141:K269Q	K	+	1	0	ZNF37A	38446890	0.402000	0.25311	0.006000	0.13384	0.174000	0.22865	1.492000	0.35594	0.144000	0.18951	0.482000	0.46254	AAA		0.368	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421	
FXYD4	53828	broad.mit.edu	37	10	43871176	43871177	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:43871176_43871177AG>CT	ENST00000476166.1	+	7	540_541	c.206_207AG>CT	c.(205-207)cAG>cCT	p.Q69P	FXYD4_ENST00000480834.1_3'UTR	NM_173160.2	NP_775183.1	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4	69					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)	p.Q69>?(1)		NS(1)|large_intestine(1)|lung(3)	5						AGCCAGAAGCAGCACAGGTGAG	0.609																																					.	GBM(173;880 2047 13035 42390 49655)											.	.	1	Complex(1)	large_intestine(1)	c.206_207CT	10						.																																			43191183	SO:0001583	missense	53828	exon7				CCDS7203.1	10q11.21	2008-02-01	2002-01-14		ENSG00000150201	ENSG00000150201			4028	protein-coding gene	gene with protein product			"""FXYD domain-containing ion transport regulator 4"""			10950925, 12763854	Standard	NM_001184963		Approved	CHIF	uc001jaq.1	P59646	OTTHUMG00000018027	Exception_encountered	10.37:g.43871176_43871177delinsCT	ENSP00000473361:p.Gln69Pro		43191182	NM_001184963	Q6UWZ1|Q7Z4M5	Missense_Mutation	DNP	ENST00000476166.1	37	CCDS7203.1																																																																																				0.609	FXYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047698.2	NM_173160	
HNRNPF	3185	broad.mit.edu	37	10	43882943	43882943	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:43882943G>T	ENST00000544000.1	-	4	797	c.390C>A	c.(388-390)ttC>ttA	p.F130L	HNRNPF_ENST00000357065.4_Missense_Mutation_p.F130L|HNRNPF_ENST00000443950.2_Missense_Mutation_p.F130L|HNRNPF_ENST00000356053.3_Missense_Mutation_p.F130L|HNRNPF_ENST00000337970.3_Missense_Mutation_p.F130L|HNRNPF_ENST00000498176.1_5'Flank	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	130	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.F130L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACCCTGAGAAGAACTGAACAA	0.537																																					p.F130L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C390A	10						.						108.0	101.0	104.0					10																	43882943		2203	4300	6503	43202949	SO:0001583	missense	3185	exon3				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.390C>A	10.37:g.43882943G>T	ENSP00000438061:p.Phe130Leu		43202949	NM_001098208	B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	ENST00000544000.1	37	CCDS7204.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930545	0.52866	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	3.99	2.03	0.26663	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01460	-1.1349	10	0.59425	D	0.04	-21.161	5.5498	0.17083	0.3747:0.0:0.6253:0.0	.	130	P52597	HNRPF_HUMAN	L	130;130;130;130;130;53	ENSP00000438061:F130L;ENSP00000400433:F130L;ENSP00000348345:F130L;ENSP00000349573:F130L;ENSP00000338477:F130L	ENSP00000338477:F130L	F	-	3	2	HNRNPF	43202949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.058000	0.41374	0.578000	0.29487	0.655000	0.94253	TTC		0.537	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047705.2		
ZNF32	7580	broad.mit.edu	37	10	44140135	44140135	+	Missense_Mutation	SNP	G	G	A	rs144676378	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:44140135G>A	ENST00000395797.1	-	3	373	c.185C>T	c.(184-186)tCg>tTg	p.S62L	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.S62L|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'UTR	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S62L(3)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TAGTGTCTTCGAATCTGGGGA	0.458													G|||	4	0.000798722	0.0	0.0	5008	,	,		19945	0.0		0.0	False		,,,				2504	0.0041				p.S62L												.	.	3	Substitution - Missense(3)	large_intestine(2)|NS(1)	c.C185T	10						.						117.0	121.0	119.0					10																	44140135		2203	4300	6503	43460141	SO:0001583	missense	7580	exon3			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.185C>T	10.37:g.44140135G>A	ENSP00000379143:p.Ser62Leu		43460141	NM_006973	Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791948	0.31685	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.11930	2.73;2.73	4.64	2.75	0.32379	.	0.725568	0.11965	N	0.512321	T	0.06826	0.0174	N	0.08118	0	0.30656	N	0.754935	B	0.19073	0.033	B	0.04013	0.001	T	0.13764	-1.0497	10	0.62326	D	0.03	-0.0423	5.7493	0.18138	0.0975:0.0:0.7112:0.1913	.	62	P17041	ZNF32_HUMAN	L	62	ENSP00000363556:S62L;ENSP00000379143:S62L	ENSP00000363556:S62L	S	-	2	0	ZNF32	43460141	0.026000	0.19158	0.998000	0.56505	0.768000	0.43524	0.696000	0.25541	0.844000	0.35094	0.655000	0.94253	TCG		0.458	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973	
OR13A1	79290	broad.mit.edu	37	10	45799430	45799430	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:45799430C>T	ENST00000553795.1	-	4	749	c.441G>A	c.(439-441)ccG>ccA	p.P147P	OR13A1_ENST00000536058.1_Silent_p.P147P|OR13A1_ENST00000374401.2_Silent_p.P147P	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P147P(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGTAATGCAGCGGGTGGCAGA	0.627																																					p.P147P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.G441A	10						.						31.0	27.0	28.0					10																	45799430		2203	4300	6503	45119436	SO:0001819	synonymous_variant	79290	exon4			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.441G>A	10.37:g.45799430C>T			45119436	NM_001004297	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	CCDS31188.1																																																																																				0.627	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297	
GDF10	2662	broad.mit.edu	37	10	48428731	48428731	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:48428731G>A	ENST00000224605.2	-	2	1420	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	385					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.F385F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CGATGTCTGCGAAGTCCACCT	0.552																																					p.F385F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1155T	10						.						98.0	89.0	92.0					10																	48428731		2203	4300	6503	48048737	SO:0001819	synonymous_variant	2662	exon2			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1155C>T	10.37:g.48428731G>A			48048737	NM_004962	Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	CCDS7220.1																																																																																				0.552	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962	
FRMPD2	143162	broad.mit.edu	37	10	49452879	49452879	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:49452879G>T	ENST00000374201.3	-	4	625	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	FRMPD2_ENST00000407470.4_Intron|FRMPD2_ENST00000305531.3_Intron	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	108	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.S108Y(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CATTCCTAAAGAATAGACATG	0.423																																					p.S108Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C323A	10						.						122.0	106.0	111.0					10																	49452879		2203	4300	6503	49122885	SO:0001583	missense	143162	exon4			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.323C>A	10.37:g.49452879G>T	ENSP00000363317:p.Ser108Tyr		49122885	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762836	0.69763	.	.	ENSG00000170324	ENST00000374201	T	0.60171	0.21	5.1	5.1	0.69264	KIND (2);	.	.	.	.	T	0.74589	0.3736	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.78370	-0.2230	9	0.87932	D	0	.	14.0177	0.64533	0.0:0.0:1.0:0.0	.	108	Q68DX3	FRPD2_HUMAN	Y	108	ENSP00000363317:S108Y	ENSP00000363317:S108Y	S	-	2	0	FRMPD2	49122885	1.000000	0.71417	0.888000	0.34837	0.795000	0.44927	5.989000	0.70587	2.379000	0.81126	0.467000	0.42956	TCT		0.423	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
C10orf71	118461	broad.mit.edu	37	10	50531118	50531118	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:50531118C>T	ENST00000374144.3	+	3	816	c.528C>T	c.(526-528)ttC>ttT	p.F176F	C10orf71_ENST00000323868.4_Silent_p.F176F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	176								p.F176F(2)		endometrium(1)	1						CTCCCAAATTCGCTCCTCTTC	0.502																																					p.F176F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C528T	10						.						30.0	32.0	32.0					10																	50531118		1996	4185	6181	50201124	SO:0001819	synonymous_variant	118461	exon3			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.528C>T	10.37:g.50531118C>T			50201124	NM_001135196	A0AVL8	Silent	SNP	ENST00000374144.3	37	CCDS44387.1																																																																																				0.502	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
ERCC6	2074	broad.mit.edu	37	10	50678848	50678848	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:50678848C>T	ENST00000355832.5	-	18	3236	c.3158G>A	c.(3157-3159)cGc>cAc	p.R1053H	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Missense_Mutation_p.R423H	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1053					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.R1053H(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAACTTCTTGCGTTTTGGAAC	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																													p.R1053H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3158A	10						.						143.0	140.0	141.0					10																	50678848		2203	4300	6503	50348854	SO:0001583	missense	2074	exon18			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3158G>A	10.37:g.50678848C>T	ENSP00000348089:p.Arg1053His		50348854	NM_000124	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	5.927	0.355053	0.11239	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.82984	-1.67;-1.42	5.43	-0.562	0.11781	.	.	.	.	.	T	0.60702	0.2289	N	0.14661	0.345	0.09310	N	1	P;B	0.41265	0.744;0.33	B;B	0.29785	0.107;0.008	T	0.51140	-0.8743	9	0.31617	T	0.26	1.5072	6.6222	0.22810	0.0:0.5412:0.1146:0.3442	.	1053;430	Q03468;Q59FF6	ERCC6_HUMAN;.	H	1053;430;423	ENSP00000348089:R1053H;ENSP00000445134:R423H	ENSP00000348089:R1053H	R	-	2	0	ERCC6	50348854	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.092000	0.11129	-0.222000	0.09958	-1.483000	0.00984	CGC		0.408	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
PGBD3	267004	broad.mit.edu	37	10	50724387	50724387	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:50724387C>A	ENST00000374127.3	-	2	975	c.774G>T	c.(772-774)atG>atT	p.M258I	PGBD3_ENST00000603152.1_Missense_Mutation_p.M726I|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.M726I|PGBD3_ENST00000508005.2_Missense_Mutation_p.M258I|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.M726I	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	258								p.M258I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GAACAAATTTCATGCATCTCT	0.363																																					p.M258I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G774T	10						.						33.0	32.0	32.0					10																	50724387		2203	4300	6503	50394393	SO:0001583	missense	267004	exon2			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.774G>T	10.37:g.50724387C>A	ENSP00000363242:p.Met258Ile		50394393	NM_170753	B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	7.232	0.599555	0.13939	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	0.468	0.468	0.16732	.	.	.	.	.	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	B;B	0.15930	0.015;0.004	B;B	0.06405	0.002;0.0	T	0.40850	-0.9541	8	0.20046	T	0.44	-12.2686	.	.	.	.	726;258	E7EV46;Q8N328	.;PGBD3_HUMAN	I	258;258;726;726	ENSP00000363242:M258I;ENSP00000426963:M258I;ENSP00000423550:M726I;ENSP00000387966:M726I	ENSP00000387966:M726I	M	-	3	0	PGBD3;RP11-123B3.6	50394393	0.002000	0.14202	0.382000	0.26119	0.356000	0.29392	-0.415000	0.07106	0.488000	0.27723	0.491000	0.48974	ATG		0.363	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1		
CHAT	1103	broad.mit.edu	37	10	50835656	50835656	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:50835656C>A	ENST00000337653.2	+	7	1089	c.936C>A	c.(934-936)ttC>ttA	p.F312L	CHAT_ENST00000455728.2_Missense_Mutation_p.F194L|CHAT_ENST00000395559.2_Missense_Mutation_p.F194L|CHAT_ENST00000339797.1_Missense_Mutation_p.F194L|CHAT_ENST00000395562.2_Missense_Mutation_p.F230L|CHAT_ENST00000351556.3_Missense_Mutation_p.F194L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	312					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.F312L(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCCCACAGTTCTTTGTCTTGG	0.512																																					p.F194L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C582A	10						.						223.0	183.0	196.0					10																	50835656		2203	4300	6503	50505662	SO:0001583	missense	1103	exon7			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.936C>A	10.37:g.50835656C>A	ENSP00000337103:p.Phe312Leu		50505662	NM_001142929	A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804107	0.70682	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.91050	0.7184	M	0.70787	2.145	0.54753	D	0.999982	B;D	0.54772	0.056;0.968	B;P	0.54060	0.055;0.741	D	0.90797	0.4691	10	0.52906	T	0.07	-30.1508	10.7545	0.46228	0.0:0.8845:0.0:0.1155	.	194;312	F8W8I2;P28329	.;CLAT_HUMAN	L	194;194;194;312;230;194	ENSP00000343486:F194L;ENSP00000345878:F194L;ENSP00000378926:F194L;ENSP00000337103:F312L;ENSP00000378929:F230L;ENSP00000390521:F194L	ENSP00000337103:F312L	F	+	3	2	CHAT	50505662	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.950000	0.49081	2.647000	0.89833	0.579000	0.79373	TTC		0.512	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549	
NCOA4	8031	broad.mit.edu	37	10	51585586	51585586	+	Missense_Mutation	SNP	G	G	A	rs139624796	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:51585586G>A	ENST00000443446.1	+	8	1914	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	NCOA4_ENST00000374082.1_Intron|NCOA4_ENST00000374087.4_Missense_Mutation_p.R562Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.R462Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.R562Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.R578Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.R396Q|NCOA4_ENST00000452682.1_Missense_Mutation_p.R578Q	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	562					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.R578Q(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGGCTGCTTCGAAAGAAGGCC	0.448			T	RET	papillary thyroid								.|||	4	0.000798722	0.0023	0.0014	5008	,	,		19218	0.0		0.0	False		,,,				2504	0.0				p.R578Q			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1733A	10						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	5,4391		0,5,2193	47.0	51.0	49.0		1733,1733,1685,1685,1685	5.9	1.0	10	dbSNP_134	49	0,8554		0,0,4277	yes	missense,missense,missense,missense,missense	NCOA4	NM_001145260.1,NM_001145261.1,NM_001145262.1,NM_001145263.1,NM_005437.3	43,43,43,43,43	0,5,6470	AA,AG,GG		0.0,0.1137,0.0386	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	578/651,578/631,562/615,562/615,562/615	51585586	5,12945	2198	4277	6475	51255592	SO:0001583	missense	8031	exon9			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1685G>A	10.37:g.51585586G>A	ENSP00000390713:p.Arg562Gln		51255592	NM_001145261	A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	G	18.89	3.720117	0.68844	0.001137	0.0	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000443446	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.93	5.93	0.95920	.	0.267719	0.33959	N	0.004394	T	0.46658	0.1404	L	0.51422	1.61	0.32488	N	0.540631	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	P;P;P;P	0.61275	0.886;0.838;0.838;0.735	T	0.52351	-0.8587	9	.	.	.	-10.8638	15.478	0.75501	0.0679:0.0:0.9321:0.0	.	462;578;578;562	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	Q	578;578;462;562;396;562;562	ENSP00000405146:R578Q;ENSP00000395465:R578Q;ENSP00000393053:R462Q;ENSP00000363200:R562Q;ENSP00000411018:R396Q;ENSP00000344552:R562Q;ENSP00000390713:R562Q	.	R	+	2	0	NCOA4	51255592	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	4.827000	0.62723	2.821000	0.97095	0.555000	0.69702	CGA		0.448	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437	
CSTF2T	23283	broad.mit.edu	37	10	53458331	53458331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:53458331G>A	ENST00000331173.4	-	1	1024	c.979C>T	c.(979-981)Cga>Tga	p.R327*	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	327	Gly-rich.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R327*(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		AACAGTCCTCGAGGAGGCAGA	0.572																																					p.R327X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C979T	10						.						66.0	63.0	64.0					10																	53458331		2203	4300	6503	53128337	SO:0001587	stop_gained	23283	exon1			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.979C>T	10.37:g.53458331G>A	ENSP00000332444:p.Arg327*		53128337	NM_015235	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Nonsense_Mutation	SNP	ENST00000331173.4	37	CCDS7245.1	.	.	.	.	.	.	.	.	.	.	G	36	5.851947	0.97023	.	.	ENSG00000177613	ENST00000331173	.	.	.	4.9	2.95	0.34219	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2672	11.6651	0.51368	0.0:0.0:0.6779:0.3221	.	.	.	.	X	327	.	ENSP00000332444:R327X	R	-	1	2	CSTF2T	53128337	0.917000	0.31117	1.000000	0.80357	0.997000	0.91878	0.911000	0.28584	0.714000	0.32081	0.655000	0.94253	CGA		0.572	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235	
CSTF2T	23283	broad.mit.edu	37	10	53459041	53459041	+	Missense_Mutation	SNP	T	T	C	rs199680831		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:53459041T>C	ENST00000331173.4	-	1	314	c.269A>G	c.(268-270)gAc>gGc	p.D90G	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	90	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D90G(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GGCAGCATTGTCCACCCGAAG	0.547																																					p.D90G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A269G	10						.						105.0	119.0	114.0					10																	53459041		2203	4300	6503	53129047	SO:0001583	missense	23283	exon1			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"""RNA binding motif (RRM) containing"""	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.269A>G	10.37:g.53459041T>C	ENSP00000332444:p.Asp90Gly		53129047	NM_015235	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	ENST00000331173.4	37	CCDS7245.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	19.60	3.857291	0.71834	.	.	ENSG00000177613	ENST00000331173	T	0.74947	-0.89	4.72	4.72	0.59763	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.71584	0.3357	N	0.13043	0.29	0.80722	D	1	P	0.45348	0.856	P	0.57371	0.819	T	0.75218	-0.3395	10	0.56958	D	0.05	-15.9106	12.4843	0.55863	0.0:0.0:0.0:1.0	.	90	Q9H0L4	CSTFT_HUMAN	G	90	ENSP00000332444:D90G	ENSP00000332444:D90G	D	-	2	0	CSTF2T	53129047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.330000	0.79181	2.116000	0.64780	0.482000	0.46254	GAC		0.547	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048097.1	NM_015235	
FAM13C	220965	broad.mit.edu	37	10	61029749	61029749	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:61029749G>A	ENST00000373868.2	-	7	800	c.713C>T	c.(712-714)tCg>tTg	p.S238L	FAM13C_ENST00000419214.2_Missense_Mutation_p.S238L|FAM13C_ENST00000442566.3_Missense_Mutation_p.S259L|FAM13C_ENST00000373867.3_Missense_Mutation_p.S155L|FAM13C_ENST00000422313.2_Missense_Mutation_p.S238L|FAM13C_ENST00000435852.2_Missense_Mutation_p.S238L|FAM13C_ENST00000277705.6_Missense_Mutation_p.S259L|FAM13C_ENST00000468840.2_Missense_Mutation_p.S155L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	238								p.S238L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCATCGTGGCGACAGCAGTGG	0.542																																					p.S155L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C464T	10						.						106.0	94.0	98.0					10																	61029749		2203	4300	6503	60699755	SO:0001583	missense	220965	exon8			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.713C>T	10.37:g.61029749G>A	ENSP00000362975:p.Ser238Leu		60699755	NM_001143773	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972941	0.92919	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;0.02;-1.09;-1.09;-1.09;-1.09	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000010	D	0.89266	0.6666	M	0.80183	2.485	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.997;0.998	D	0.90002	0.4115	10	0.87932	D	0	-11.7901	19.7156	0.96119	0.0:0.0:1.0:0.0	.	238;155;238;238;238	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	155;238;259;259;238;155;238;238;16	ENSP00000362974:S155L;ENSP00000362975:S238L;ENSP00000395661:S259L;ENSP00000277705:S259L;ENSP00000391993:S238L;ENSP00000423896:S155L;ENSP00000392302:S238L;ENSP00000400241:S238L;ENSP00000445068:S16L	ENSP00000277705:S259L	S	-	2	0	FAM13C	60699755	1.000000	0.71417	0.992000	0.48379	0.782000	0.44232	8.954000	0.93051	2.658000	0.90341	0.655000	0.94253	TCG		0.542	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
ANK3	288	broad.mit.edu	37	10	61833924	61833924	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:61833924G>A	ENST00000280772.2	-	37	6906	c.6715C>T	c.(6715-6717)Cgt>Tgt	p.R2239C	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2239					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R2239C(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTTAACACGCATGCCTTTG	0.413																																					p.R2239C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6715T	10						.						212.0	197.0	202.0					10																	61833924		2203	4300	6503	61503930	SO:0001583	missense	288	exon37			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6715C>T	10.37:g.61833924G>A	ENSP00000280772:p.Arg2239Cys		61503930	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474374	0.43942	.	.	ENSG00000151150	ENST00000280772	T	0.60920	0.15	6.05	6.05	0.98169	.	0.000000	0.42420	D	0.000701	T	0.69878	0.3160	L	0.35723	1.085	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.67277	-0.5711	10	0.48119	T	0.1	.	20.6032	0.99464	0.0:0.0:1.0:0.0	.	2239	Q12955	ANK3_HUMAN	C	2239	ENSP00000280772:R2239C	ENSP00000280772:R2239C	R	-	1	0	ANK3	61503930	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.466000	0.60148	2.875000	0.98604	0.643000	0.83706	CGT		0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ANK3	288	broad.mit.edu	37	10	61946495	61946495	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:61946495G>A	ENST00000280772.2	-	17	2254	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	ANK3_ENST00000373827.2_Missense_Mutation_p.A682V|ANK3_ENST00000503366.1_Missense_Mutation_p.A671V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	688					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A349V(1)|p.A688V(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTCACATTCGCATTTCTACC	0.512																																					p.A688V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2063T	10						.						198.0	145.0	163.0					10																	61946495		2203	4300	6503	61616501	SO:0001583	missense	288	exon17			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2063C>T	10.37:g.61946495G>A	ENSP00000280772:p.Ala688Val		61616501	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160545	0.94727	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.25085	1.82;1.82;1.82	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.41938	D	0.000797	T	0.53642	0.1809	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.998;1.0;1.0;1.0	P;P;D;D;D	0.97110	0.638;0.813;1.0;0.937;0.999	T	0.46303	-0.9201	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	671;349;232;682;688	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	V	688;682;671;650;349;349;232	ENSP00000280772:A688V;ENSP00000362933:A682V;ENSP00000425236:A671V	ENSP00000280772:A688V	A	-	2	0	ANK3	61616501	1.000000	0.71417	0.933000	0.37362	0.624000	0.37722	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCG		0.512	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
CTNNA3	29119	broad.mit.edu	37	10	68526062	68526062	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:68526062T>C	ENST00000433211.2	-	9	1415	c.1241A>G	c.(1240-1242)tAt>tGt	p.Y414C	CTNNA3_ENST00000373744.4_Missense_Mutation_p.Y414C	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.Y414C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCGCAGCATATTCTTTTAT	0.428																																					p.Y414C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1241G	10						.						209.0	193.0	199.0					10																	68526062		2203	4300	6503	68196068	SO:0001583	missense	29119	exon9			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1241A>G	10.37:g.68526062T>C	ENSP00000389714:p.Tyr414Cys		68196068	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072911	0.76415	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37915	1.17;1.17	6.17	6.17	0.99709	.	0.000000	0.52532	D	0.000067	T	0.57519	0.2059	L	0.61387	1.9	0.80722	D	1	B;D	0.89917	0.133;1.0	B;D	0.91635	0.263;0.999	T	0.56032	-0.8046	10	0.45353	T	0.12	-21.283	14.7743	0.69713	0.0:0.0:0.0:1.0	.	414;414	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	C	414	ENSP00000389714:Y414C;ENSP00000362849:Y414C	ENSP00000362849:Y414C	Y	-	2	0	CTNNA3	68196068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TAT		0.428	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
LRRTM3	347731	broad.mit.edu	37	10	68857538	68857538	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:68857538A>C	ENST00000361320.4	+	3	2308	c.1730A>C	c.(1729-1731)aAa>aCa	p.K577T	CTNNA3_ENST00000433211.2_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	577					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.K577T(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGTGACCATAAACAGCAGCTA	0.458																																					p.K577T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1730C	10						.						122.0	106.0	111.0					10																	68857538		2203	4300	6503	68527544	SO:0001583	missense	347731	exon3			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1730A>C	10.37:g.68857538A>C	ENSP00000355187:p.Lys577Thr		68527544	NM_178011	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298317	0.23650	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.45668	0.89	5.62	4.43	0.53597	.	0.147759	0.32357	N	0.006215	T	0.27419	0.0673	N	0.08118	0	0.29825	N	0.83053	P	0.39094	0.659	B	0.42959	0.403	T	0.19844	-1.0293	10	0.56958	D	0.05	.	10.6939	0.45888	0.7736:0.2264:0.0:0.0	.	577	Q86VH5	LRRT3_HUMAN	T	577	ENSP00000355187:K577T	ENSP00000355187:K577T	K	+	2	0	LRRTM3	68527544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.198000	0.32223	2.277000	0.76020	0.528000	0.53228	AAA		0.458	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011	
SIRT1	23411	broad.mit.edu	37	10	69672420	69672420	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:69672420G>A	ENST00000212015.6	+	8	1600	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	SIRT1_ENST00000406900.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000403579.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000432464.1_Missense_Mutation_p.R221Q	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	516	Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R516Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAACCTCCACGAACACAAAAA	0.388																																					p.R221Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662A	10						.						75.0	75.0	75.0					10																	69672420		2203	4300	6503	69342426	SO:0001583	missense	23411	exon7			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1547G>A	10.37:g.69672420G>A	ENSP00000212015:p.Arg516Gln		69342426	NM_001142498	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	35	5.448975	0.96205	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.27402	2.16;1.7;1.67;1.67	5.68	5.68	0.88126	.	0.305199	0.28521	N	0.015055	T	0.38931	0.1059	L	0.37697	1.125	0.80722	D	1	D;D	0.67145	0.988;0.996	P;P	0.52957	0.629;0.714	T	0.02345	-1.1173	10	0.32370	T	0.25	-7.8462	19.4062	0.94648	0.0:0.0:1.0:0.0	.	213;516	B0QZ35;Q96EB6	.;SIRT1_HUMAN	Q	516;221;213;213	ENSP00000212015:R516Q;ENSP00000409208:R221Q;ENSP00000384508:R213Q;ENSP00000384063:R213Q	ENSP00000212015:R516Q	R	+	2	0	SIRT1	69342426	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.187000	0.94912	2.695000	0.91970	0.650000	0.86243	CGA		0.388	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1		
MYPN	84665	broad.mit.edu	37	10	69934260	69934260	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:69934260G>A	ENST00000358913.5	+	11	2899	c.2411G>A	c.(2410-2412)gGa>gAa	p.G804E	MYPN_ENST00000540630.1_Missense_Mutation_p.G804E|MYPN_ENST00000354393.2_Missense_Mutation_p.G529E	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	804	Pro-rich.		G -> R (in dbSNP:rs62620248). {ECO:0000269|PubMed:22286171}.		sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.G804E(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATCCCCAGCGGAAACCAGTTT	0.542																																					p.G804E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2411A	10						.						112.0	99.0	104.0					10																	69934260		2203	4300	6503	69604266	SO:0001583	missense	84665	exon11			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2411G>A	10.37:g.69934260G>A	ENSP00000351790:p.Gly804Glu		69604266	NM_032578	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228890	0.39399	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.56275	0.47;0.55;0.53	5.8	4.88	0.63580	.	0.188362	0.46442	D	0.000293	T	0.40347	0.1113	L	0.43152	1.355	0.25982	N	0.982353	P;B;B	0.35272	0.493;0.328;0.22	B;B;B	0.35607	0.206;0.079;0.036	T	0.33111	-0.9881	9	.	.	.	.	4.9218	0.13874	0.0745:0.258:0.5166:0.151	.	804;529;804	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	E	529;529;804;804	ENSP00000346369:G529E;ENSP00000351790:G804E;ENSP00000441668:G804E	.	G	+	2	0	MYPN	69604266	0.998000	0.40836	0.992000	0.48379	0.896000	0.52359	2.930000	0.48924	1.414000	0.47017	0.655000	0.94253	GGA		0.542	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578	
DNA2	1763	broad.mit.edu	37	10	70176472	70176472	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:70176472T>G	ENST00000358410.3	-	20	3158	c.3108A>C	c.(3106-3108)gaA>gaC	p.E1036D	DNA2_ENST00000399179.2_Missense_Mutation_p.E798D|DNA2_ENST00000399180.2_Missense_Mutation_p.E1122D	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	1036	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.E1122D(1)|p.E1036D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ATATTAATTTTTCTGAGTTTA	0.343																																					p.E1122D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3366C	10						.						90.0	89.0	90.0					10																	70176472		1821	4079	5900	69846478	SO:0001583	missense	1763	exon20			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.3108A>C	10.37:g.70176472T>G	ENSP00000351185:p.Glu1036Asp		69846478	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.83|17.83	3.486166|3.486166	0.63962|0.63962	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410|ENST00000440722	D;D;D|.	0.94046|.	-2.87;-3.34;-2.86|.	5.08|5.08	3.95|3.95	0.45737|0.45737	.|.	0.000000|.	0.32868|.	U|.	0.005551|.	T|T	0.42539|0.42539	0.1207|0.1207	L|L	0.50333|0.50333	1.59|1.59	0.24203|0.24203	N|N	0.995502|0.995502	D;D|.	0.69078|.	0.997;0.969|.	D;P|.	0.66497|.	0.944;0.563|.	T|T	0.25813|0.25813	-1.0121|-1.0121	10|5	0.33141|.	T|.	0.24|.	.|.	8.9414|8.9414	0.35731|0.35731	0.0:0.1593:0.0:0.8407|0.0:0.1593:0.0:0.8407	.|.	798;1036|.	F8VR31;P51530|.	.;DNA2L_HUMAN|.	D|Q	798;1122;798;1036|358	ENSP00000382133:E1122D;ENSP00000382132:E798D;ENSP00000351185:E1036D|.	ENSP00000351185:E1036D|.	E|K	-|-	3|1	2|0	DNA2|DNA2	69846478|69846478	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.844000|0.844000	0.47949|0.47949	1.460000|1.460000	0.35244|0.35244	0.794000|0.794000	0.33899|0.33899	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.343	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		
DNA2	1763	broad.mit.edu	37	10	70178874	70178874	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:70178874C>T	ENST00000358410.3	-	19	2934	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	DNA2_ENST00000399179.2_Missense_Mutation_p.E724K|DNA2_ENST00000399180.2_Missense_Mutation_p.E1048K	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	962	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.E962K(1)|p.E1048K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GTATTAACTTCGACCATCCCA	0.373																																					p.E1048K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3142A	10						.						122.0	114.0	116.0					10																	70178874		1864	4115	5979	69848880	SO:0001583	missense	1763	exon19			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2884G>A	10.37:g.70178874C>T	ENSP00000351185:p.Glu962Lys		69848880	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	ENST00000358410.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.375396|5.375396	0.95923|0.95923	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410|ENST00000440722	D;D;D|.	0.92965|.	-3.14;-3.14;-3.14|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77177|0.77177	0.4092|0.4092	M|M	0.75150|0.75150	2.29|2.29	0.41534|0.41534	D|D	0.988479|0.988479	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.77013|0.77013	-0.2745|-0.2745	10|5	0.72032|.	D|.	0.01|.	.|.	19.2822|19.2822	0.94055|0.94055	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	724;962|.	F8VR31;P51530|.	.;DNA2L_HUMAN|.	K|Q	724;1048;724;962|283	ENSP00000382133:E1048K;ENSP00000382132:E724K;ENSP00000351185:E962K|.	ENSP00000351185:E962K|.	E|R	-|-	1|2	0|0	DNA2|DNA2	69848880|69848880	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.945000|0.945000	0.59286|0.59286	7.426000|7.426000	0.80270|0.80270	2.548000|2.548000	0.85928|0.85928	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.373	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		
DNA2	1763	broad.mit.edu	37	10	70202679	70202679	+	Silent	SNP	C	C	T	rs145280717	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:70202679C>T	ENST00000358410.3	-	9	1460	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S	DNA2_ENST00000399179.2_Silent_p.S470S|DNA2_ENST00000399180.2_Silent_p.S556S	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	470	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)	p.S556S(1)|p.S470S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CTTACATTTCCGAAGCAGGCA	0.358													C|||	2	0.000399361	0.0	0.0	5008	,	,		19469	0.001		0.001	False		,,,				2504	0.0				p.S556S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1668A	10						.						66.0	58.0	60.0					10																	70202679		1860	4093	5953	69872685	SO:0001819	synonymous_variant	1763	exon9			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1410G>A	10.37:g.70202679C>T			69872685	NM_001080449	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37																																																																																					0.358	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2		
TET1	80312	broad.mit.edu	37	10	70405744	70405744	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:70405744G>A	ENST00000373644.4	+	4	3467	c.3258G>A	c.(3256-3258)tcG>tcA	p.S1086S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1086					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.S1086S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AACTTGCTTCGATAATTAAGA	0.368																																					p.S1086S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3258A	10						.						83.0	79.0	80.0					10																	70405744		2203	4300	6503	70075750	SO:0001819	synonymous_variant	80312	exon4			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3258G>A	10.37:g.70405744G>A			70075750	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.368	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
TET1	80312	broad.mit.edu	37	10	70426804	70426804	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:70426804T>G	ENST00000373644.4	+	7	4673	c.4464T>G	c.(4462-4464)gtT>gtG	p.V1488V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1488					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.V1488V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTTTCAGGTTTTAAGAAGAA	0.388																																					p.V1488V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4464G	10						.						80.0	80.0	80.0					10																	70426804		2203	4300	6503	70096810	SO:0001819	synonymous_variant	80312	exon7			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4464T>G	10.37:g.70426804T>G			70096810	NM_030625	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	CCDS7281.1																																																																																				0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
DDX50	79009	broad.mit.edu	37	10	70694577	70694577	+	Missense_Mutation	SNP	G	G	A	rs370419447		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:70694577G>A	ENST00000373585.3	+	10	1531	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	DDX50_ENST00000466265.1_Intron	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	475	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R475H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TATATCCATCGCTCTGGACGC	0.353																																					p.R475H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1424A	10						.	G	HIS/ARG	0,4406		0,0,2203	97.0	101.0	99.0		1424	5.3	1.0	10		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX50	NM_024045.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	475/738	70694577	1,13005	2203	4300	6503	70364583	SO:0001583	missense	79009	exon10			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1424G>A	10.37:g.70694577G>A	ENSP00000362687:p.Arg475His		70364583	NM_024045	Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184557	0.94885	0.0	1.16E-4	ENSG00000107625	ENST00000373585;ENST00000541832	D	0.82526	-1.62	5.33	5.33	0.75918	Helicase, C-terminal (3);	0.053079	0.85682	D	0.000000	D	0.94535	0.8240	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.96028	0.9014	10	0.87932	D	0	-4.5474	19.4007	0.94629	0.0:0.0:1.0:0.0	.	475	Q9BQ39	DDX50_HUMAN	H	475	ENSP00000362687:R475H	ENSP00000362687:R475H	R	+	2	0	DDX50	70364583	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.085000	0.94083	2.650000	0.89964	0.655000	0.94253	CGC		0.353	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045	
KIAA1279	26128	broad.mit.edu	37	10	70775381	70775381	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:70775381C>T	ENST00000361983.4	+	7	1177	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	359					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)	p.R359W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GGAAAGCATTCGGAAAAAAGC	0.398																																					p.R359W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1075T	10						.						97.0	96.0	97.0					10																	70775381		2203	4300	6503	70445387	SO:0001583	missense	26128	exon7			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1075C>T	10.37:g.70775381C>T	ENSP00000354848:p.Arg359Trp		70445387	NM_015634	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.445900	0.63178	.	.	ENSG00000198954	ENST00000361983	T	0.48836	0.8	5.51	3.17	0.36434	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68040	-0.5514	10	0.66056	D	0.02	-24.6132	12.5896	0.56436	0.702:0.298:0.0:0.0	.	359	Q96EK5	KBP_HUMAN	W	359	ENSP00000354848:R359W	ENSP00000354848:R359W	R	+	1	2	KIAA1279	70445387	1.000000	0.71417	0.919000	0.36401	0.964000	0.63967	3.707000	0.54838	0.475000	0.27415	-0.271000	0.10264	CGG		0.398	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634	
SRGN	5552	broad.mit.edu	37	10	70856932	70856932	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:70856932G>A	ENST00000242465.3	+	2	212	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SRGN_ENST00000462445.1_Intron	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	58					biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)		p.E58K(1)		large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						ACCAATGTTCGAACTACTTCC	0.433																																					p.E58K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G172A	10						.						100.0	89.0	93.0					10																	70856932		2203	4300	6503	70526938	SO:0001583	missense	5552	exon2			BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"""Proteoglycans / Extracellular Matrix : Other"""	9361	protein-coding gene	gene with protein product	"""serglycin proteoglycan"""	177040	"""proteoglycan 1, secretory granule"""	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.172G>A	10.37:g.70856932G>A	ENSP00000242465:p.Glu58Lys		70526938	NM_002727	B2R4L7|Q5VW06	Missense_Mutation	SNP	ENST00000242465.3	37	CCDS7285.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304229	0.40795	.	.	ENSG00000122862	ENST00000242465	T	0.48836	0.8	5.26	-0.0855	0.13685	.	0.821578	0.10952	N	0.615923	T	0.30103	0.0754	N	0.19112	0.55	0.09310	N	1	B	0.24317	0.101	B	0.20184	0.028	T	0.21381	-1.0247	10	0.51188	T	0.08	-6.4484	8.4585	0.32915	0.476:0.0:0.524:0.0	.	58	P10124	SRGN_HUMAN	K	58	ENSP00000242465:E58K	ENSP00000242465:E58K	E	+	1	0	SRGN	70526938	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.031000	0.12287	0.022000	0.15160	0.561000	0.74099	GAA		0.433	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048379.1	NM_002727	
PPA1	5464	broad.mit.edu	37	10	71968985	71968985	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:71968985T>C	ENST00000373232.3	-	8	800	c.701A>G	c.(700-702)aAa>aGa	p.K234R		NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	234					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|phosphate-containing compound metabolic process (GO:0006796)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)	p.K234R(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						TCCATTCGTTTTCTTAGTCAC	0.333																																					p.K234R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A701G	10						.						147.0	125.0	133.0					10																	71968985		2203	4298	6501	71638991	SO:0001583	missense	5464	exon8			AF154065	CCDS7299.1	10q11.1-q24	2012-10-02	2005-10-07	2005-10-07	ENSG00000180817	ENSG00000180817	3.6.1.1		9226	protein-coding gene	gene with protein product	"""cytosolic inorganic pyrophosphatase"", ""inorganic pyrophosphatase 1"", ""pyrophosphate phospho-hydrolase"""	179030	"""pyrophosphatase (inorganic)"""	PP		10542310, 975879	Standard	NM_021129		Approved	SID6-8061, Ppase, IOPPP, PP1	uc001jqv.1	Q15181	OTTHUMG00000018399	ENST00000373232.3:c.701A>G	10.37:g.71968985T>C	ENSP00000362329:p.Lys234Arg		71638991	NM_021129	Q2M348|Q5SQT7|Q6P7P4|Q9UQJ5|Q9Y5B1	Missense_Mutation	SNP	ENST00000373232.3	37	CCDS7299.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.062703	0.55432	.	.	ENSG00000180817	ENST00000373232	T	0.47528	0.84	5.24	5.24	0.73138	.	0.292971	0.41823	D	0.000817	T	0.50548	0.1622	M	0.83118	2.625	0.80722	D	1	B	0.14438	0.01	B	0.20577	0.03	T	0.55263	-0.8168	10	0.62326	D	0.03	-6.8187	8.6417	0.33981	0.0:0.0866:0.0:0.9134	.	234	Q15181	IPYR_HUMAN	R	234	ENSP00000362329:K234R	ENSP00000362329:K234R	K	-	2	0	PPA1	71638991	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	3.073000	0.50057	1.974000	0.57490	0.533000	0.62120	AAA		0.333	PPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048490.2	NM_021129	
SGPL1	8879	broad.mit.edu	37	10	72619186	72619186	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:72619186G>A	ENST00000373202.3	+	7	745	c.545G>A	c.(544-546)cGc>cAc	p.R182H		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	182					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.R182H(1)		large_intestine(4)	4						CCAGGACTACGCAAGATAGAG	0.448																																					p.R182H	Colon(151;1054 2458 6676 40971)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G545A	10						.						111.0	95.0	101.0					10																	72619186		2203	4300	6503	72289192	SO:0001583	missense	8879	exon7			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.545G>A	10.37:g.72619186G>A	ENSP00000362298:p.Arg182His		72289192	NM_003901	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	CCDS31216.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.703015|4.703015	0.88924|0.88924	.|.	.|.	ENSG00000166224|ENSG00000166224	ENST00000409118|ENST00000373202;ENST00000299297	.|T;T	.|0.58060	.|0.69;0.36	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74321|0.74321	0.3701|0.3701	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.66351	.|0.943	T|T	0.77370|0.77370	-0.2613|-0.2613	5|10	.|0.72032	.|D	.|0.01	-14.2459|-14.2459	19.1469|19.1469	0.93472|0.93472	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182	.|O95470	.|SGPL1_HUMAN	T|H	96|182;165	.|ENSP00000362298:R182H;ENSP00000299297:R165H	.|ENSP00000299297:R165H	A|R	+|+	1|2	0|0	SGPL1|SGPL1	72289192|72289192	1.000000|1.000000	0.71417|0.71417	0.438000|0.438000	0.26821|0.26821	0.969000|0.969000	0.65631|0.65631	8.969000|8.969000	0.93411|0.93411	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.448	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1	NM_003901	
CDH23	64072	broad.mit.edu	37	10	73558989	73558989	+	Silent	SNP	C	C	T	rs375991880		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:73558989C>T	ENST00000224721.6	+	50	7196	c.7191C>T	c.(7189-7191)atC>atT	p.I2397I	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.I152I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2392	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.I2397I(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCTGGAAATCGTGGACATCA	0.617																																					p.I152I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456T	10						.	C	,,	0,4034		0,0,2017	73.0	81.0	78.0		456,456,7176	0.3	1.0	10		78	1,8305		0,1,4152	no	coding-synonymous,coding-synonymous,coding-synonymous	CDH23	NM_001171933.1,NM_001171934.1,NM_022124.5	,,	0,1,6169	TT,TC,CC		0.012,0.0,0.0081	,,	152/1115,152/1080,2392/3355	73558989	1,12339	2017	4153	6170	73228995	SO:0001819	synonymous_variant	64072	exon4			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7191C>T	10.37:g.73558989C>T			73228995	NM_001171933	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																					0.617	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
CDH23	64072	broad.mit.edu	37	10	73567144	73567144	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:73567144C>T	ENST00000224721.6	+	57	8309	c.8304C>T	c.(8302-8304)atC>atT	p.I2768I	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.I523I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2763	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.I2768I(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAACGCGATCGTGTACTACT	0.632																																					p.I523I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1569T	10						.						37.0	44.0	42.0					10																	73567144		2119	4216	6335	73237150	SO:0001819	synonymous_variant	64072	exon11			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8304C>T	10.37:g.73567144C>T			73237150	NM_001171933	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37																																																																																					0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
ECD	11319	broad.mit.edu	37	10	74908075	74908075	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:74908075C>T	ENST00000372979.4	-	8	1206	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	ECD_ENST00000454759.2_Missense_Mutation_p.A291T|ECD_ENST00000430082.2_Missense_Mutation_p.A334T	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	334					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.A334T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AGGAAACTGGCCCAGAGTGGT	0.403																																					p.A291T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G871A	10						.						78.0	78.0	78.0					10																	74908075		2203	4300	6503	74578081	SO:0001583	missense	11319	exon7			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1000G>A	10.37:g.74908075C>T	ENSP00000362070:p.Ala334Thr		74578081	NM_001135753	C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824379	0.32237	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	T;T;T	0.18960	2.18;2.18;2.18	5.95	1.53	0.23141	.	0.577073	0.20893	N	0.083792	T	0.09686	0.0238	N	0.17474	0.49	0.33187	D	0.550395	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.14578	0.01;0.011;0.006	T	0.26677	-1.0096	10	0.14252	T	0.57	-18.5548	5.3283	0.15918	0.0:0.4865:0.1687:0.3449	.	291;334;334	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	T	334;334;291	ENSP00000362070:A334T;ENSP00000401566:A334T;ENSP00000395786:A291T	ENSP00000362070:A334T	A	-	1	0	ECD	74578081	0.976000	0.34144	0.969000	0.41365	0.985000	0.73830	1.045000	0.30341	0.418000	0.25898	0.650000	0.86243	GCC		0.403	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265	
PPP3CB	5532	broad.mit.edu	37	10	75206290	75206290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:75206290G>A	ENST00000360663.5	-	11	1339	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	PPP3CB_ENST00000544628.1_Nonsense_Mutation_p.R38*|PPP3CB_ENST00000342558.3_Nonsense_Mutation_p.R410*|PPP3CB_ENST00000394822.2_Nonsense_Mutation_p.R428*|PPP3CB_ENST00000394828.2_Nonsense_Mutation_p.R411*|PPP3CB_ENST00000394829.2_Nonsense_Mutation_p.R411*|PPP3CB_ENST00000545874.1_Nonsense_Mutation_p.R325*			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	410	Calmodulin-binding. {ECO:0000255}.				axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.R410*(1)|p.R82*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CCAATTGCTCGAATTTTGTTT	0.358																																					p.R411X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1231T	10						.						188.0	171.0	176.0					10																	75206290		2203	4300	6503	74876296	SO:0001587	stop_gained	5532	exon11			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1228C>T	10.37:g.75206290G>A	ENSP00000353881:p.Arg410*		74876296	NM_001142353	P16299|Q5F2F9|Q8N1F0|Q8N3W4	Nonsense_Mutation	SNP	ENST00000360663.5	37	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	G	36	5.760472	0.96906	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000394823;ENST00000544628;ENST00000430762;ENST00000342558;ENST00000545874;ENST00000394822	.	.	.	5.12	5.12	0.69794	.	0.149195	0.34802	N	0.003675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.568	0.91124	0.0:0.0:1.0:0.0	.	.	.	.	X	410;411;411;82;38;72;410;325;428	.	ENSP00000343147:R410X	R	-	1	2	PPP3CB	74876296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.781000	0.85668	2.375000	0.81037	0.585000	0.79938	CGA		0.358	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132	
MYOZ1	58529	broad.mit.edu	37	10	75394397	75394397	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:75394397C>T	ENST00000359322.4	-	4	711	c.347G>A	c.(346-348)aGc>aAc	p.S116N		NM_021245.3	NP_067068.1			myozenin 1									p.S116N(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCCTGCCTGGCTGCCGCCTCT	0.622																																					p.S116N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347A	10						.						58.0	58.0	58.0					10																	75394397		2203	4300	6503	75064403	SO:0001583	missense	58529	exon4			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.347G>A	10.37:g.75394397C>T	ENSP00000352272:p.Ser116Asn		75064403	NM_021245		Missense_Mutation	SNP	ENST00000359322.4	37	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827780	0.16749	.	.	ENSG00000177791	ENST00000359322	T	0.63580	-0.05	5.92	4.97	0.65823	.	0.262387	0.43110	D	0.000610	T	0.48466	0.1501	N	0.22421	0.69	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.32481	-0.9905	10	0.30854	T	0.27	-2.1238	14.6104	0.68512	0.1764:0.8236:0.0:0.0	.	116	Q9NP98	MYOZ1_HUMAN	N	116	ENSP00000352272:S116N	ENSP00000352272:S116N	S	-	2	0	MYOZ1	75064403	0.270000	0.24152	0.925000	0.36789	0.232000	0.25224	-0.116000	0.10724	1.338000	0.45544	0.561000	0.74099	AGC		0.622	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1		
KCNMA1	3778	broad.mit.edu	37	10	78649212	78649212	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:78649212T>G	ENST00000286628.8	-	27	3457	c.3458A>C	c.(3457-3459)aAg>aCg	p.K1153T	RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.K1153T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.K1157T|KCNMA1_ENST00000286627.5_Missense_Mutation_p.K1095T|KCNMA1_ENST00000372443.1_Missense_Mutation_p.K1122T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.K1136T|KCNMA1_ENST00000354353.5_Missense_Mutation_p.K1156T|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.K1095T|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000609102.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1153					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.K1095T(1)|p.K1157T(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TACTCACCTCTTTGTGCACTG	0.433																																					p.K1136T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3407C	10						.						98.0	96.0	96.0					10																	78649212		2203	4300	6503	78319218	SO:0001583	missense	3778	exon27			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.3458A>C	10.37:g.78649212T>G	ENSP00000286628:p.Lys1153Thr		78319218	NM_001161353	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.5|26.5	4.746527|4.746527	0.89663|0.89663	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.85339	.|-1.93;-1.95;-1.96;-1.97;-1.93;-1.93;-1.97;-1.97;-1.94	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.91432|0.91432	0.7296|0.7296	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|0.999;0.999;1.0;1.0;0.967;0.991;1.0;0.997	.|D;D;D;D;P;D;D;D	.|0.91635	.|0.996;0.99;0.996;0.999;0.813;0.916;0.998;0.98	D|D	0.92023|0.92023	0.5627|0.5627	6|10	.|0.87932	.|D	.|0	.|.	16.8222|16.8222	0.85835|0.85835	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1124;1125;1136;1153;1095;906;1156;1122	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.;.	N|T	1083;802|1095;1032;1088;1127;1090;1122;1095;1127;1157;1156;1136;906	.|ENSP00000361517:K1095T;ENSP00000361485:K1032T;ENSP00000361514:K1088T;ENSP00000396608:K1127T;ENSP00000361520:K1122T;ENSP00000286627:K1095T;ENSP00000385552:K1157T;ENSP00000346321:K1156T;ENSP00000385806:K1136T	.|ENSP00000286627:K1095T	K|K	-|-	3|2	2|0	KCNMA1|KCNMA1	78319218|78319218	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.953000|0.953000	0.61014|0.61014	7.698000|7.698000	0.84413|0.84413	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.433	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
KCNMA1	3778	broad.mit.edu	37	10	78713641	78713641	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:78713641T>C	ENST00000286628.8	-	21	2401	c.2402A>G	c.(2401-2403)aAc>aGc	p.N801S	KCNMA1_ENST00000404771.3_Missense_Mutation_p.N801S|KCNMA1_ENST00000406533.3_Missense_Mutation_p.N805S|KCNMA1_ENST00000286627.5_Missense_Mutation_p.N743S|KCNMA1_ENST00000372443.1_Missense_Mutation_p.N743S|KCNMA1_ENST00000404857.1_Missense_Mutation_p.N743S|KCNMA1_ENST00000354353.5_Missense_Mutation_p.N804S|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.N743S|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000598613.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	801					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.N743S(1)|p.N805S(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GGAGTCCATGTTGTCAATCTG	0.438																																					p.N743S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2228G	10						.						139.0	121.0	127.0					10																	78713641		2203	4300	6503	78383647	SO:0001583	missense	3778	exon20			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.2402A>G	10.37:g.78713641T>C	ENSP00000286628:p.Asn801Ser		78383647	NM_001161353	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	13.67|13.67	2.307512|2.307512	0.40795|0.40795	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	D;D;D;D;D;D;D;D;D|.	0.83591|.	-1.72;-1.73;-1.74;-1.74;-1.72;-1.72;-1.74;-1.72;-1.71|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.095736|.	0.85682|.	D|.	0.000000|.	T|T	0.55242|0.55242	0.1908|0.1908	N|N	0.25647|0.25647	0.755|0.755	0.44702|0.44702	D|D	0.997691|0.997691	B;B;B;B;B;B;B;B|.	0.11235|.	0.004;0.001;0.001;0.0;0.001;0.0;0.0;0.001|.	B;B;B;B;B;B;B;B|.	0.15484|.	0.013;0.002;0.005;0.002;0.004;0.001;0.005;0.002|.	T|T	0.51317|0.51317	-0.8721|-0.8721	10|5	0.40728|.	T|.	0.16|.	-20.1956|-20.1956	16.4987|16.4987	0.84252|0.84252	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	772;746;743;801;743;554;804;743|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	S|A	743;680;736;775;738;743;743;775;805;804;743;554|694	ENSP00000361517:N743S;ENSP00000361485:N680S;ENSP00000361514:N736S;ENSP00000396608:N775S;ENSP00000361520:N743S;ENSP00000286627:N743S;ENSP00000385552:N805S;ENSP00000346321:N804S;ENSP00000385806:N743S|.	ENSP00000286627:N743S|.	N|T	-|-	2|1	0|0	KCNMA1|KCNMA1	78383647|78383647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.147000|3.147000	0.50639|0.50639	2.301000|2.301000	0.77427|0.77427	0.520000|0.520000	0.50463|0.50463	AAC|ACA		0.438	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
MAT1A	4143	broad.mit.edu	37	10	82034333	82034333	+	Missense_Mutation	SNP	C	C	T	rs370173781		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:82034333C>T	ENST00000372213.3	-	8	1288	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	343					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.R343Q(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAGCAGCTCTCGCTCTGTCTT	0.557																																					p.R343Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1028A	10						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	173.0	156.0	162.0		1028	-0.8	0.0	10		162	0,8600		0,0,4300	no	missense	MAT1A	NM_000429.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	343/396	82034333	1,13005	2203	4300	6503	82024313	SO:0001583	missense	4143	exon8				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.1028G>A	10.37:g.82034333C>T	ENSP00000361287:p.Arg343Gln		82024313	NM_000429	D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561415	0.27915	2.27E-4	0.0	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.97620	-4.46	5.09	-0.771	0.11002	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.428221	0.25422	N	0.030793	D	0.89891	0.6846	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81801	-0.0766	10	0.45353	T	0.12	-1.5604	9.6003	0.39601	0.0:0.4489:0.0:0.5511	.	343	Q00266	METK1_HUMAN	Q	343	ENSP00000361287:R343Q	ENSP00000361280:R343Q	R	-	2	0	MAT1A	82024313	0.000000	0.05858	0.007000	0.13788	0.572000	0.35998	-0.785000	0.04628	-0.194000	0.10399	-0.797000	0.03246	CGA		0.557	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429	
MAT1A	4143	broad.mit.edu	37	10	82036269	82036269	+	Missense_Mutation	SNP	C	C	T	rs377184051		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:82036269C>T	ENST00000372213.3	-	6	891	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	211					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)	p.E211K(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTGATGTCTTCGTTGTGCTGC	0.582																																					p.E211K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631A	10						.						186.0	150.0	162.0					10																	82036269		2203	4300	6503	82026249	SO:0001583	missense	4143	exon6				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.631G>A	10.37:g.82036269C>T	ENSP00000361287:p.Glu211Lys		82026249	NM_000429	D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336819	0.81801	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.83163	-1.69	4.84	4.84	0.62591	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.152521	0.64402	D	0.000013	D	0.82697	0.5093	M	0.71206	2.165	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.80935	-0.1160	10	0.66056	D	0.02	-33.0316	15.8349	0.78791	0.0:1.0:0.0:0.0	.	211	Q00266	METK1_HUMAN	K	211	ENSP00000361287:E211K	ENSP00000361280:E211K	E	-	1	0	MAT1A	82026249	1.000000	0.71417	0.302000	0.25058	0.996000	0.88848	5.615000	0.67702	2.677000	0.91161	0.655000	0.94253	GAA		0.582	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429	
LRIT2	340745	broad.mit.edu	37	10	85985239	85985239	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:85985239A>G	ENST00000372113.4	-	1	43	c.38T>C	c.(37-39)gTc>gCc	p.V13A	LRIT2_ENST00000538192.1_Missense_Mutation_p.V13A	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	13						integral component of membrane (GO:0016021)		p.V13A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATCCAGAAAGACCAGAACTAA	0.473																																					p.V13A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T38C	10						.						76.0	73.0	74.0					10																	85985239		2203	4300	6503	85975219	SO:0001583	missense	340745	exon1				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.38T>C	10.37:g.85985239A>G	ENSP00000361185:p.Val13Ala		85975219	NM_001017924	B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	A	4.167	0.029531	0.08054	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.61742	0.48;0.08	5.87	0.743	0.18347	.	0.471174	0.17748	N	0.163338	T	0.36276	0.0961	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.15867	-1.0422	10	0.16896	T	0.51	.	4.9155	0.13844	0.6504:0.0:0.2241:0.1255	.	13;13	B7ZME6;A6NDA9	.;LRIT2_HUMAN	A	13	ENSP00000361185:V13A;ENSP00000438264:V13A	ENSP00000361185:V13A	V	-	2	0	LRIT2	85975219	0.001000	0.12720	0.001000	0.08648	0.025000	0.11179	0.044000	0.13992	-0.103000	0.12175	-0.408000	0.06270	GTC		0.473	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697	
PAPSS2	9060	broad.mit.edu	37	10	89501115	89501115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:89501115G>T	ENST00000361175.4	+	9	1564	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	PAPSS2_ENST00000427144.2_Nonsense_Mutation_p.E403*|PAPSS2_ENST00000456849.1_Nonsense_Mutation_p.E404*	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	399					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)	p.E399*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		GAAATGTAAAGAAATGAATGC	0.433																																					p.E404X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1210T	10						.						119.0	111.0	114.0					10																	89501115		2203	4300	6503	89491095	SO:0001587	stop_gained	9060	exon10			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1195G>T	10.37:g.89501115G>T	ENSP00000354436:p.Glu399*		89491095	NM_001015880	Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Nonsense_Mutation	SNP	ENST00000361175.4	37	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	36	5.870643	0.97049	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	.	.	.	5.15	4.24	0.50183	.	0.248759	0.47093	D	0.000245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-16.1619	16.015	0.80430	0.0:0.1343:0.8656:0.0	.	.	.	.	X	399;404;403;403	.	ENSP00000354436:E399X	E	+	1	0	PAPSS2	89491095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.441000	0.80485	1.391000	0.46566	0.591000	0.81541	GAA		0.433	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1		
PANK1	53354	broad.mit.edu	37	10	91353658	91353658	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:91353658C>T	ENST00000307534.4	-	4	1554	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	MIR107_ENST00000362127.1_RNA|PANK1_ENST00000371774.2_Missense_Mutation_p.D269N|PANK1_ENST00000322191.6_Intron|PANK1_ENST00000342512.3_Missense_Mutation_p.D242N	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	467					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.D467N(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TTGGTGCTGTCGCCTTTAGCT	0.453																																					p.D467N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1399A	10						.						169.0	146.0	154.0					10																	91353658		2203	4300	6503	91343638	SO:0001583	missense	53354	exon4			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1399G>A	10.37:g.91353658C>T	ENSP00000302108:p.Asp467Asn		91343638	NM_148977	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	ENST00000307534.4	37	CCDS31244.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403161	0.62288	.	.	ENSG00000152782	ENST00000342512;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D	0.99688	-6.41;-6.41;-6.41	6.17	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98883	0.9622	L	0.46819	1.47	0.80722	D	1	B;P;B	0.50710	0.267;0.938;0.164	B;B;B	0.42163	0.071;0.378;0.049	D	0.98903	1.0777	10	0.46703	T	0.11	.	17.6945	0.88277	0.0:0.8773:0.1227:0.0	.	269;467;242	Q8TE04-4;Q8TE04;Q8TE04-2	.;PANK1_HUMAN;.	N	242;269;467;330	ENSP00000345118:D242N;ENSP00000360839:D269N;ENSP00000302108:D467N	ENSP00000302108:D467N	D	-	1	0	PANK1	91343638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.066000	0.71185	1.611000	0.50210	0.655000	0.94253	GAC		0.453	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
KIF20B	9585	broad.mit.edu	37	10	91486236	91486236	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:91486236G>A	ENST00000371728.3	+	16	2253	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	KIF20B_ENST00000416354.1_Missense_Mutation_p.E730K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.E690K|KIF20B_ENST00000394289.2_Missense_Mutation_p.E730K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	730					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.E690K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AACCAAAGGAGAATTAATCAA	0.299																																					p.E690K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2068A	10						.						33.0	32.0	32.0					10																	91486236		2202	4295	6497	91476216	SO:0001583	missense	9585	exon16			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2188G>A	10.37:g.91486236G>A	ENSP00000360793:p.Glu730Lys		91476216	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	21.2	4.118362	0.77323	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.59	5.59	0.84812	.	0.000000	0.53938	D	0.000055	T	0.40448	0.1117	M	0.72894	2.215	0.30222	N	0.796747	D;D	0.69078	0.997;0.994	D;P	0.73380	0.98;0.832	T	0.35895	-0.9770	10	0.52906	T	0.07	-8.2285	14.1815	0.65577	0.0:0.1497:0.8503:0.0	.	730;690	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	690;730;730;730;297	ENSP00000260753:E690K;ENSP00000411545:E730K;ENSP00000377830:E730K;ENSP00000360793:E730K	ENSP00000260753:E690K	E	+	1	0	KIF20B	91476216	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.139000	0.58024	2.628000	0.89032	0.591000	0.81541	GAA		0.299	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
KIF20B	9585	broad.mit.edu	37	10	91497569	91497569	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:91497569G>A	ENST00000371728.3	+	20	3036	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	KIF20B_ENST00000416354.1_Missense_Mutation_p.E1021K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.E951K|KIF20B_ENST00000394289.2_Missense_Mutation_p.E991K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	991					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.E951K(3)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAAATAGACGAACTACGTAC	0.338																																					p.E951K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2851A	10						.						60.0	64.0	63.0					10																	91497569		2203	4299	6502	91487549	SO:0001583	missense	9585	exon20			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2971G>A	10.37:g.91497569G>A	ENSP00000360793:p.Glu991Lys		91487549	NM_016195	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	13.37	2.216206	0.39201	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.70164	-0.37;-0.38;-0.46;-0.39	5.69	2.47	0.30058	.	0.231808	0.30455	N	0.009582	T	0.48295	0.1492	L	0.40543	1.245	0.32394	N	0.552863	P;P	0.40638	0.462;0.725	B;B	0.30646	0.023;0.118	T	0.59306	-0.7479	10	0.33940	T	0.23	-9.2566	9.3056	0.37874	0.1501:0.1249:0.725:0.0	.	991;951	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	951;1021;991;991	ENSP00000260753:E951K;ENSP00000411545:E1021K;ENSP00000377830:E991K;ENSP00000360793:E991K	ENSP00000260753:E951K	E	+	1	0	KIF20B	91487549	1.000000	0.71417	1.000000	0.80357	0.327000	0.28475	1.275000	0.33144	1.398000	0.46701	0.591000	0.81541	GAA		0.338	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195	
HECTD2	143279	broad.mit.edu	37	10	93244350	93244350	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:93244350T>G	ENST00000298068.5	+	9	1002	c.908T>G	c.(907-909)tTt>tGt	p.F303C	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.F307C|HECTD2_ENST00000536715.1_5'UTR	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	303					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F303C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCTGAAGAATTTCCACCTATA	0.363																																					p.F303C	NSCLC(12;376 469 1699 39910 41417)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T908G	10						.						88.0	91.0	90.0					10																	93244350		2203	4300	6503	93234330	SO:0001583	missense	143279	exon9			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.908T>G	10.37:g.93244350T>G	ENSP00000298068:p.Phe303Cys		93234330	NM_182765	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	De_novo_Start_OutOfFrame	SNP	ENST00000298068.5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.879001	0.72294	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.37058	1.22;1.23	5.82	5.82	0.92795	.	0.130262	0.56097	D	0.000027	T	0.38612	0.1047	L	0.40543	1.245	0.80722	D	1	P;P	0.51653	0.932;0.947	P;P	0.46718	0.525;0.453	T	0.14839	-1.0458	10	0.48119	T	0.1	.	16.1803	0.81892	0.0:0.0:0.0:1.0	.	307;303	E7ERR3;Q5U5R9	.;HECD2_HUMAN	C	307;29;303	ENSP00000401023:F307C;ENSP00000298068:F303C	ENSP00000298068:F303C	F	+	2	0	HECTD2	93234330	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.377000	0.79668	2.214000	0.71695	0.482000	0.46254	TTT		0.363	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		
HECTD2	143279	broad.mit.edu	37	10	93245000	93245000	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:93245000T>G	ENST00000298068.5	+	10	1128	c.1034T>G	c.(1033-1035)tTg>tGg	p.L345W	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.L349W|HECTD2_ENST00000536715.1_5'UTR	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	345					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L345W(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AATTCTACATTGGATCACATT	0.318																																					p.L345W	NSCLC(12;376 469 1699 39910 41417)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1034G	10						.						97.0	97.0	97.0					10																	93245000		2203	4289	6492	93234980	SO:0001583	missense	143279	exon10			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1034T>G	10.37:g.93245000T>G	ENSP00000298068:p.Leu345Trp		93234980	NM_182765	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	De_novo_Start_OutOfFrame	SNP	ENST00000298068.5	37	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603307	0.87157	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	D;D	0.81579	-1.51;-1.51	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	D	0.90484	0.7019	M	0.85462	2.755	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.78314	0.991;0.988	D	0.92035	0.5636	10	0.87932	D	0	.	15.7835	0.78281	0.0:0.0:0.0:1.0	.	349;345	E7ERR3;Q5U5R9	.;HECD2_HUMAN	W	349;71;345	ENSP00000401023:L349W;ENSP00000298068:L345W	ENSP00000298068:L345W	L	+	2	0	HECTD2	93234980	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.361000	0.79497	2.130000	0.65690	0.528000	0.53228	TTG		0.318	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		
PPP1R3C	5507	broad.mit.edu	37	10	93389711	93389711	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:93389711T>G	ENST00000238994.5	-	2	1011	c.927A>C	c.(925-927)agA>agC	p.R309S		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C									p.R309S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AGTTCTCCATTCTCCCCCAGC	0.478																																					p.R309S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A927C	10						.						88.0	88.0	88.0					10																	93389711		2203	4300	6503	93379691	SO:0001583	missense	5507	exon2			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.927A>C	10.37:g.93389711T>G	ENSP00000238994:p.Arg309Ser		93379691	NM_005398		Missense_Mutation	SNP	ENST00000238994.5	37	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492154	0.26774	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.42513	0.97	5.73	0.623	0.17654	.	0.429039	0.26665	N	0.023125	T	0.27313	0.0670	L	0.36672	1.1	0.09310	N	1	B	0.15930	0.015	B	0.12837	0.008	T	0.25257	-1.0137	10	0.11794	T	0.64	-4.5045	10.3839	0.44127	0.0:0.4277:0.0:0.5723	.	309	Q9UQK1	PPR3C_HUMAN	S	309;289;191	ENSP00000238994:R309S	ENSP00000238994:R309S	R	-	3	2	PPP1R3C	93379691	0.003000	0.15002	0.958000	0.39756	0.998000	0.95712	-0.072000	0.11486	0.095000	0.17434	0.533000	0.62120	AGA		0.478	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398	
BTAF1	9044	broad.mit.edu	37	10	93695422	93695422	+	Missense_Mutation	SNP	G	G	A	rs200229615		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:93695422G>A	ENST00000265990.6	+	2	331	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	8					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R8H(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGGCTAGATCGCCTTTTTATT	0.378																																					p.R8H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G23A	10						.						160.0	138.0	146.0					10																	93695422		2203	4300	6503	93685402	SO:0001583	missense	9044	exon2			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.23G>A	10.37:g.93695422G>A	ENSP00000265990:p.Arg8His		93685402	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241089	0.95272	.	.	ENSG00000095564	ENST00000265990	T	0.66280	-0.2	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87125	0.2193	10	0.87932	D	0	0.8706	18.9257	0.92544	0.0:0.0:1.0:0.0	.	8	O14981	BTAF1_HUMAN	H	8	ENSP00000265990:R8H	ENSP00000265990:R8H	R	+	2	0	BTAF1	93685402	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.757000	0.98924	2.537000	0.85549	0.655000	0.94253	CGC		0.378	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
BTAF1	9044	broad.mit.edu	37	10	93767941	93767941	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:93767941G>A	ENST00000265990.6	+	26	4030	c.3722G>A	c.(3721-3723)cGa>cAa	p.R1241Q	BTAF1_ENST00000544642.1_Missense_Mutation_p.R69Q	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1241					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1241Q(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCCAAGGAGCGACACTTTTTG	0.338																																					p.R1241Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3722A	10						.						92.0	102.0	98.0					10																	93767941		2203	4300	6503	93757921	SO:0001583	missense	9044	exon26			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3722G>A	10.37:g.93767941G>A	ENSP00000265990:p.Arg1241Gln		93757921	NM_003972	B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286251	0.95517	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.80033	-1.33;-1.33	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90676	0.7075	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.64687	0.928	D	0.92175	0.5747	10	0.62326	D	0.03	-9.8251	18.2243	0.89911	0.0:0.0:1.0:0.0	.	1241	O14981	BTAF1_HUMAN	Q	1241;69;91	ENSP00000265990:R1241Q;ENSP00000439924:R69Q	ENSP00000265990:R1241Q	R	+	2	0	BTAF1	93757921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.601000	0.98297	2.596000	0.87737	0.655000	0.94253	CGA		0.338	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972	
CPEB3	22849	broad.mit.edu	37	10	93952356	93952356	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:93952356G>A	ENST00000265997.4	-	3	1215	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	CPEB3_ENST00000412050.4_Missense_Mutation_p.S348L	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	348					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)	p.S348L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GTTCTCCAACGAGTGCAAGTT	0.373																																					p.S348L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1043T	10						.						95.0	87.0	90.0					10																	93952356		2203	4300	6503	93942336	SO:0001583	missense	22849	exon3			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1043C>T	10.37:g.93952356G>A	ENSP00000265997:p.Ser348Leu		93942336	NM_014912	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341692	0.81911	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.53857	0.64;0.6	6.06	6.06	0.98353	.	0.124399	0.56097	D	0.000034	T	0.50000	0.1590	L	0.38175	1.15	0.51012	D	0.999903	P;P;P	0.47350	0.894;0.672;0.78	B;B;B	0.41860	0.368;0.058;0.173	T	0.52756	-0.8533	10	0.66056	D	0.02	-12.7008	20.6314	0.99525	0.0:0.0:1.0:0.0	.	348;348;348	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	L	348	ENSP00000398310:S348L;ENSP00000265997:S348L	ENSP00000265997:S348L	S	-	2	0	CPEB3	93942336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.347000	0.97059	2.885000	0.99019	0.579000	0.79373	TCG		0.373	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	
EXOC6	54536	broad.mit.edu	37	10	94669348	94669348	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:94669348G>A	ENST00000260762.6	+	6	637	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	EXOC6_ENST00000443748.2_Missense_Mutation_p.R208Q|EXOC6_ENST00000497262.1_3'UTR|EXOC6_ENST00000371547.4_Missense_Mutation_p.R224Q|EXOC6_ENST00000371552.4_Missense_Mutation_p.R203Q	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	208					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.R208Q(1)|p.R203Q(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GAAAGTATTCGAAAACATTCT	0.313																																					p.R203Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G608A	10						.						60.0	59.0	59.0					10																	94669348		2203	4300	6503	94659328	SO:0001583	missense	54536	exon6			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.623G>A	10.37:g.94669348G>A	ENSP00000260762:p.Arg208Gln		94659328	NM_001013848	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	31	5.084112	0.94100	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.69	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.87381	2.88	0.27235	N	0.959281	D;P;D;D;D	0.89917	1.0;0.844;1.0;1.0;1.0	D;B;D;D;D	0.91635	0.999;0.24;0.992;0.992;0.992	T	0.64175	-0.6469	10	0.87932	D	0	-8.3063	16.8433	0.85973	0.0:0.1284:0.8716:0.0	.	224;208;200;208;203	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	Q	224;203;208;208	ENSP00000360602:R224Q;ENSP00000360607:R203Q;ENSP00000396206:R208Q;ENSP00000260762:R208Q	ENSP00000260762:R208Q	R	+	2	0	EXOC6	94659328	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	1.410000	0.46936	0.650000	0.86243	CGA		0.313	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	
EXOC6	54536	broad.mit.edu	37	10	94715355	94715355	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:94715355A>C	ENST00000260762.6	+	17	1671	c.1657A>C	c.(1657-1659)Aac>Cac	p.N553H	EXOC6_ENST00000443748.2_Missense_Mutation_p.N450H|EXOC6_ENST00000371547.4_Missense_Mutation_p.N569H|EXOC6_ENST00000371552.4_Missense_Mutation_p.N548H	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	553					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AATCATCATAAACACAACACA	0.299																																					p.N548H												.	.	0			c.A1642C	10						.						91.0	95.0	94.0					10																	94715355		2203	4295	6498	94705335	SO:0001583	missense	54536	exon17			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1657A>C	10.37:g.94715355A>C	ENSP00000260762:p.Asn553His		94705335	NM_001013848	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518220	0.85495	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.72415	0.3457	M	0.72353	2.195	0.80722	D	1	D;P;D;D;D;D	0.76494	0.998;0.877;0.987;0.987;0.996;0.999	D;P;D;D;D;D	0.77004	0.958;0.809;0.982;0.982;0.989;0.989	T	0.75230	-0.3391	10	0.87932	D	0	-16.4673	16.6093	0.84858	1.0:0.0:0.0:0.0	.	569;450;545;506;553;548	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	H	569;548;450;553	ENSP00000360602:N569H;ENSP00000360607:N548H;ENSP00000396206:N450H;ENSP00000260762:N553H	ENSP00000260762:N553H	N	+	1	0	EXOC6	94705335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.273000	0.95719	2.324000	0.78689	0.533000	0.62120	AAC		0.299	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	
EXOC6	54536	broad.mit.edu	37	10	94757241	94757241	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:94757241C>T	ENST00000260762.6	+	19	1978	c.1964C>T	c.(1963-1965)gCt>gTt	p.A655V	EXOC6_ENST00000443748.2_Missense_Mutation_p.A552V|EXOC6_ENST00000371547.4_Missense_Mutation_p.A671V|EXOC6_ENST00000371552.4_Missense_Mutation_p.A650V	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	655					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.A650V(1)|p.A655V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GGGAAAGTTGCTCAGACAGCT	0.383																																					p.A650V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1949T	10						.						115.0	102.0	106.0					10																	94757241		2203	4300	6503	94747221	SO:0001583	missense	54536	exon19			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1964C>T	10.37:g.94757241C>T	ENSP00000260762:p.Ala655Val		94747221	NM_001013848	E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	C	34	5.326846	0.95708	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762;ENST00000458552	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.974;0.999;0.997;0.999;0.999	D;D;D;D;D;D	0.73708	0.926;0.938;0.973;0.973;0.981;0.968	T	0.60707	-0.7210	10	0.87932	D	0	-7.2637	18.9777	0.92745	0.0:1.0:0.0:0.0	.	671;552;647;608;655;650	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	V	671;650;552;655;4	ENSP00000360602:A671V;ENSP00000360607:A650V;ENSP00000396206:A552V;ENSP00000260762:A655V;ENSP00000398982:A4V	ENSP00000260762:A655V	A	+	2	0	EXOC6	94747221	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.553000	0.86117	0.650000	0.86243	GCT		0.383	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	
MYOF	26509	broad.mit.edu	37	10	95082895	95082895	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:95082895T>C	ENST00000359263.4	-	48	5395	c.5396A>G	c.(5395-5397)gAc>gGc	p.D1799G	MYOF_ENST00000371502.4_Missense_Mutation_p.D1789G|MYOF_ENST00000485212.1_5'Flank|MYOF_ENST00000371501.4_Missense_Mutation_p.D1799G|MYOF_ENST00000358334.5_Missense_Mutation_p.D1786G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1799					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.D1799G(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAAGATAACGTCCTTGGTGTT	0.478																																					p.D1786G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5357G	10						.						299.0	280.0	286.0					10																	95082895		1977	4161	6138	95072885	SO:0001583	missense	26509	exon47			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5396A>G	10.37:g.95082895T>C	ENSP00000352208:p.Asp1799Gly		95072885	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475590	0.84640	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.36	5.36	0.76844	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.088881	0.85682	D	0.000000	T	0.79616	0.4476	M	0.64567	1.98	0.80722	D	1	P;P	0.50617	0.937;0.543	P;P	0.58172	0.834;0.63	T	0.80843	-0.1201	10	0.54805	T	0.06	-20.0404	15.5286	0.75932	0.0:0.0:0.0:1.0	.	1786;1799	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	G	1786;1799;1799;1789	ENSP00000351094:D1786G;ENSP00000352208:D1799G;ENSP00000360556:D1799G;ENSP00000360557:D1789G	ENSP00000351094:D1786G	D	-	2	0	MYOF	95072885	1.000000	0.71417	0.948000	0.38648	0.793000	0.44817	7.868000	0.87116	2.257000	0.74773	0.460000	0.39030	GAC		0.478	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
PDE6C	5146	broad.mit.edu	37	10	95422929	95422929	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:95422929G>A	ENST00000371447.3	+	21	2650	c.2512G>A	c.(2512-2514)Gaa>Aaa	p.E838K	PDE6C_ENST00000475427.2_Intron	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	838					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E838K(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGGAGGAGCCGAAAAAGGTTA	0.428																																					p.E838K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2512A	10						.						107.0	111.0	109.0					10																	95422929		2203	4300	6503	95412919	SO:0001583	missense	5146	exon21			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.2512G>A	10.37:g.95422929G>A	ENSP00000360502:p.Glu838Lys		95412919	NM_006204	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	1.248	-0.619432	0.03663	.	.	ENSG00000095464	ENST00000371447	T	0.63255	-0.03	4.88	0.57	0.17347	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	1.091980	0.07071	N	0.835466	T	0.33847	0.0877	N	0.04787	-0.16	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22417	-1.0217	10	0.05436	T	0.98	.	7.1155	0.25414	0.1908:0.4123:0.3969:0.0	.	838	P51160	PDE6C_HUMAN	K	838	ENSP00000360502:E838K	ENSP00000360502:E838K	E	+	1	0	PDE6C	95412919	0.052000	0.20516	0.016000	0.15963	0.141000	0.21300	0.609000	0.24238	0.235000	0.21160	-0.165000	0.13383	GAA		0.428	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1	NM_006204	
PLCE1	51196	broad.mit.edu	37	10	96066401	96066401	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:96066401C>T	ENST00000371380.3	+	25	6075	c.5840C>T	c.(5839-5841)gCg>gTg	p.A1947V	PLCE1_ENST00000371375.1_Missense_Mutation_p.A1639V|PLCE1_ENST00000260766.3_Missense_Mutation_p.A1947V|PLCE1_ENST00000371385.3_Missense_Mutation_p.A1639V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1947	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.A1947V(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATAGTTCAGCGGTAACTGCT	0.403																																					p.A1639V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4916T	10						.						92.0	82.0	85.0					10																	96066401		1880	4129	6009	96056391	SO:0001583	missense	51196	exon25				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5840C>T	10.37:g.96066401C>T	ENSP00000360431:p.Ala1947Val		96056391	NM_001165979	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851577	0.32699	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.43	3.49	0.39957	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.185481	0.49916	N	0.000137	T	0.04724	0.0128	N	0.02011	-0.69	0.39652	D	0.97048	B;B;B	0.20459	0.022;0.045;0.011	B;B;B	0.16289	0.015;0.008;0.011	T	0.32877	-0.9890	10	0.10111	T	0.7	.	11.7854	0.52039	0.0:0.8491:0.0:0.1509	.	1931;1639;1947	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	1947;1947;1639;1639	ENSP00000260766:A1947V;ENSP00000360431:A1947V;ENSP00000360438:A1639V;ENSP00000360426:A1639V	ENSP00000260766:A1947V	A	+	2	0	PLCE1	96056391	0.992000	0.36948	0.419000	0.26584	0.722000	0.41435	3.129000	0.50500	0.714000	0.32081	-0.119000	0.15052	GCG		0.403	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
NOC3L	64318	broad.mit.edu	37	10	96093961	96093961	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:96093961C>T	ENST00000371361.3	-	21	2476	c.2376G>A	c.(2374-2376)acG>acA	p.T792T	NOC3L_ENST00000543788.1_Intron|NOC3L_ENST00000371350.1_Silent_p.T792T	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	792					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.T792T(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TCAAATATTTCGTGAAATCCA	0.333																																					p.T792T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2376A	10						.						85.0	85.0	85.0					10																	96093961		2202	4299	6501	96083951	SO:0001819	synonymous_variant	64318	exon21			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.2376G>A	10.37:g.96093961C>T			96083951	NM_022451	Q9H5M6|Q9H9D8	Silent	SNP	ENST00000371361.3	37	CCDS7433.1																																																																																				0.333	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451	
TBC1D12	23232	broad.mit.edu	37	10	96253163	96253163	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:96253163G>A	ENST00000225235.4	+	4	1363	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	418							Rab GTPase activator activity (GO:0005097)	p.R418Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTACGTCACCGACAAGAATAC	0.318																																					p.R418Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1253A	10						.						91.0	94.0	93.0					10																	96253163		1810	4083	5893	96243153	SO:0001583	missense	23232	exon4			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1253G>A	10.37:g.96253163G>A	ENSP00000225235:p.Arg418Gln		96243153	NM_015188	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865342	0.71949	.	.	ENSG00000108239	ENST00000225235	T	0.58358	0.34	5.1	5.1	0.69264	.	0.066477	0.56097	D	0.000024	T	0.39835	0.1093	L	0.37697	1.125	0.51482	D	0.999928	P	0.42827	0.791	B	0.31245	0.126	T	0.39981	-0.9587	10	0.41790	T	0.15	-7.2306	16.3825	0.83473	0.0:0.0:1.0:0.0	.	418	O60347	TBC12_HUMAN	Q	418	ENSP00000225235:R418Q	ENSP00000225235:R418Q	R	+	2	0	TBC1D12	96243153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.824000	0.55723	2.809000	0.96659	0.655000	0.94253	CGA		0.318	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2		
TBC1D12	23232	broad.mit.edu	37	10	96256889	96256889	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:96256889G>A	ENST00000225235.4	+	5	1482	c.1372G>A	c.(1372-1374)Gta>Ata	p.V458I		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	458							Rab GTPase activator activity (GO:0005097)	p.V458I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				AAGTGCAATGGTAATTTGGAT	0.313																																					p.V458I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1372A	10						.						78.0	73.0	75.0					10																	96256889		1828	4078	5906	96246879	SO:0001583	missense	23232	exon5			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1372G>A	10.37:g.96256889G>A	ENSP00000225235:p.Val458Ile		96246879	NM_015188	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	ENST00000225235.4	37	CCDS41553.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942058	0.53079	.	.	ENSG00000108239	ENST00000225235	T	0.58060	0.36	4.95	4.95	0.65309	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	L	0.50333	1.59	0.47341	D	0.999397	P	0.35033	0.481	B	0.34590	0.186	T	0.47787	-0.9090	10	0.34782	T	0.22	-15.0094	16.0033	0.80310	0.0:0.0:1.0:0.0	.	458	O60347	TBC12_HUMAN	I	458	ENSP00000225235:V458I	ENSP00000225235:V458I	V	+	1	0	TBC1D12	96246879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.360000	0.66086	2.439000	0.82584	0.591000	0.81541	GTA		0.313	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2		
HELLS	3070	broad.mit.edu	37	10	96317911	96317911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:96317911G>T	ENST00000348459.5	+	4	397	c.292G>T	c.(292-294)Gaa>Taa	p.E98*	HELLS_ENST00000394036.1_Nonsense_Mutation_p.E98*|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000394045.1_Nonsense_Mutation_p.E98*|HELLS_ENST00000394044.1_Nonsense_Mutation_p.E98*|HELLS_ENST00000371332.4_Nonsense_Mutation_p.E98*	NM_018063.3	NP_060533.2			helicase, lymphoid-specific									p.E98*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GAAGAAGAAAGAAAAATTGGA	0.269																																					p.E98X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G292T	10						.						48.0	61.0	56.0					10																	96317911		2195	4284	6479	96307901	SO:0001587	stop_gained	3070	exon4			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.292G>T	10.37:g.96317911G>T	ENSP00000239027:p.Glu98*		96307901	NM_018063		Nonsense_Mutation	SNP	ENST00000348459.5	37	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.629443	0.96671	.	.	ENSG00000119969	ENST00000419900;ENST00000348459;ENST00000394045;ENST00000394044;ENST00000394036;ENST00000371332	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-12.1697	14.7126	0.69244	0.0:0.0:1.0:0.0	.	.	.	.	X	82;98;98;98;98;98	.	ENSP00000239027:E98X	E	+	1	0	HELLS	96307901	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.659000	0.54489	2.300000	0.77407	0.655000	0.94253	GAA		0.269	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063	
ALDH18A1	5832	broad.mit.edu	37	10	97397089	97397089	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:97397089G>A	ENST00000371224.2	-	4	545	c.408C>T	c.(406-408)agC>agT	p.S136S	ALDH18A1_ENST00000371221.3_Silent_p.S136S|ALDH18A1_ENST00000483788.1_5'UTR	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	136	Glutamate 5-kinase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.S136S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCTGCCGCACGCTCTGAGACA	0.547																																					p.S136S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	10						.						119.0	104.0	109.0					10																	97397089		2203	4300	6503	97387079	SO:0001819	synonymous_variant	5832	exon4			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.408C>T	10.37:g.97397089G>A			97387079	NM_001017423	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	ENST00000371224.2	37	CCDS7443.1																																																																																				0.547	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860	
ENTPD1	953	broad.mit.edu	37	10	97624583	97624583	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:97624583G>A	ENST00000371205.4	+	9	1574	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371203.5_Missense_Mutation_p.A293T|RP11-248J23.7_ENST00000491114.1_Silent_p.Q46Q|ENTPD1_ENST00000453258.2_Missense_Mutation_p.A438T|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.A323T|ENTPD1_ENST00000539125.1_Missense_Mutation_p.A293T|ENTPD1_ENST00000371207.3_Missense_Mutation_p.A443T			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	431					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.A431T(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TCATTTCACAGCTGATTCCTG	0.488																																					p.A431T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1291A	10						.						125.0	100.0	108.0					10																	97624583		2203	4300	6503	97614573	SO:0001583	missense	953	exon9			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1291G>A	10.37:g.97624583G>A	ENSP00000360248:p.Ala431Thr		97614573	NM_001776	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	G	4.570	0.105839	0.08780	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76	4.28	-5.19	0.02832	.	1.420050	0.03995	N	0.295458	T	0.05273	0.0140	N	0.24115	0.695	0.09310	N	0.999998	B;B;B;B	0.22003	0.063;0.051;0.009;0.063	B;B;B;B	0.20384	0.029;0.017;0.012;0.016	T	0.35251	-0.9796	10	0.13853	T	0.58	7.4811	0.2547	0.00210	0.3218:0.2189:0.2384:0.2208	.	443;443;438;431	B4DWB9;G3XAF6;P49961-2;P49961	.;.;.;ENTP1_HUMAN	T	438;443;323;293;293;431	ENSP00000390955:A438T;ENSP00000360250:A443T;ENSP00000442968:A323T;ENSP00000440027:A293T;ENSP00000360246:A293T;ENSP00000360248:A431T	ENSP00000360246:A293T	A	+	1	0	ENTPD1	97614573	0.000000	0.05858	0.001000	0.08648	0.172000	0.22775	-1.684000	0.01932	-1.577000	0.01650	-0.140000	0.14226	GCT		0.488	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776	
C10orf12	26148	broad.mit.edu	37	10	98742606	98742606	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:98742606G>A	ENST00000286067.2	+	1	1566	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	487								p.E487K(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGACTCACTCGAAGAGAATTT	0.428																																					p.E487K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1459A	10						.						74.0	80.0	78.0					10																	98742606		2203	4300	6503	98732596	SO:0001583	missense	26148	exon1			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1459G>A	10.37:g.98742606G>A	ENSP00000286067:p.Glu487Lys		98732596	NM_015652	Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059516	0.36373	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.06933	3.24	5.82	5.82	0.92795	.	0.788381	0.11256	N	0.583145	T	0.06917	0.0176	N	0.20986	0.625	0.33031	D	0.530148	D;P	0.57571	0.98;0.945	B;B	0.41988	0.372;0.186	T	0.09400	-1.0676	10	0.51188	T	0.08	-15.1982	7.9892	0.30231	0.0868:0.1628:0.7504:0.0	.	321;487	A0PJI9;Q8N655	.;CJ012_HUMAN	K	487;321	ENSP00000286067:E487K	ENSP00000286067:E487K	E	+	1	0	C10orf12	98732596	0.992000	0.36948	0.976000	0.42696	0.131000	0.20780	2.276000	0.43408	2.765000	0.95021	0.561000	0.74099	GAA		0.428	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
SLIT1	6585	broad.mit.edu	37	10	98794273	98794273	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:98794273G>A	ENST00000266058.4	-	23	2638	c.2393C>T	c.(2392-2394)tCc>tTc	p.S798F	SLIT1_ENST00000371070.4_Missense_Mutation_p.S798F|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	798					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.S798F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ATTGCTTAAGGAACTGATCTT	0.552																																					p.S798F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2393T	10						.						154.0	133.0	140.0					10																	98794273		2203	4300	6503	98784263	SO:0001583	missense	6585	exon23			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2393C>T	10.37:g.98794273G>A	ENSP00000266058:p.Ser798Phe		98784263	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	g	13.77	2.336550	0.41398	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	T;T	0.58358	0.34;0.34	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	L	0.31420	0.93	0.80722	D	1	B	0.26512	0.151	B	0.21917	0.037	T	0.45205	-0.9277	10	0.54805	T	0.06	.	16.1323	0.81449	0.0:0.0:1.0:0.0	.	798	O75093	SLIT1_HUMAN	F	798	ENSP00000266058:S798F;ENSP00000360109:S798F	ENSP00000266058:S798F	S	-	2	0	SLIT1	98784263	1.000000	0.71417	0.915000	0.36163	0.697000	0.40408	7.418000	0.80167	2.008000	0.58898	0.537000	0.68136	TCC		0.552	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
SLIT1	6585	broad.mit.edu	37	10	98825787	98825787	+	Missense_Mutation	SNP	G	G	A	rs537899049		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:98825787G>A	ENST00000266058.4	-	5	715	c.470C>T	c.(469-471)aCg>aTg	p.T157M	SLIT1_ENST00000371070.4_Missense_Mutation_p.T157M|SLIT1_ENST00000371041.3_Missense_Mutation_p.T157M|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	157					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.T157M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTTAAGGTCCGTAGCTCCCCG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		19192	0.0		0.001	False		,,,				2504	0.0				p.T157M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C470T	10						.						52.0	44.0	47.0					10																	98825787		2203	4300	6503	98815777	SO:0001583	missense	6585	exon5			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.470C>T	10.37:g.98825787G>A	ENSP00000266058:p.Thr157Met		98815777	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391494	0.62066	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.27256	1.68;1.68;1.69;4.17	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.91635	0.908;0.999	T	0.63116	-0.6709	10	0.72032	D	0.01	.	18.0624	0.89381	0.0:0.0:1.0:0.0	.	157;157	E7EWQ8;O75093	.;SLIT1_HUMAN	M	157;157;133;157;140;133;157	ENSP00000266058:T157M;ENSP00000360109:T157M;ENSP00000315005:T140M;ENSP00000360080:T157M	ENSP00000266058:T157M	T	-	2	0	SLIT1	98815777	1.000000	0.71417	0.991000	0.47740	0.226000	0.24999	9.114000	0.94329	2.523000	0.85059	0.491000	0.48974	ACG		0.577	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
CRTAC1	55118	broad.mit.edu	37	10	99770898	99770898	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:99770898G>A	ENST00000370597.3	-	2	576	c.221C>T	c.(220-222)gCg>gTg	p.A74V	CRTAC1_ENST00000298819.4_Missense_Mutation_p.A74V|CRTAC1_ENST00000370591.2_Missense_Mutation_p.A74V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	74						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.A74V(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CACTTACCCCGCCACGACGAT	0.483																																					p.A74V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C221T	10						.						117.0	97.0	104.0					10																	99770898		2203	4300	6503	99760888	SO:0001583	missense	55118	exon2			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.221C>T	10.37:g.99770898G>A	ENSP00000359629:p.Ala74Val		99760888	NM_018058	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100550	0.94245	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	6.17	6.17	0.99709	.	0.273380	0.41605	D	0.000857	T	0.50411	0.1614	M	0.86573	2.825	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.64042	0.774;0.921	T	0.44081	-0.9351	10	0.13470	T	0.59	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	74;74	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	V	74;74;66;74	ENSP00000359629:A74V;ENSP00000298819:A74V;ENSP00000310810:A66V;ENSP00000359623:A74V	ENSP00000298819:A74V	A	-	2	0	CRTAC1	99760888	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.066000	0.93949	2.941000	0.99782	0.655000	0.94253	GCG		0.483	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
LRRC27	80313	broad.mit.edu	37	10	134161628	134161628	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr10:134161628C>T	ENST00000368614.3	+	6	799	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F	LRRC27_ENST00000432555.2_Missense_Mutation_p.L105F|LRRC27_ENST00000368612.1_Missense_Mutation_p.L170F|LRRC27_ENST00000344079.5_Missense_Mutation_p.L232F|LRRC27_ENST00000368613.4_Missense_Mutation_p.L232F|LRRC27_ENST00000368615.3_Missense_Mutation_p.L232F|LRRC27_ENST00000356571.4_3'UTR|LRRC27_ENST00000368610.3_Missense_Mutation_p.L170F|LRRC27_ENST00000392638.2_Missense_Mutation_p.L232F	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	232								p.L232F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GGCCAGCTTTCTCCCACCTGT	0.577																																					p.L232F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C694T	10						.						48.0	52.0	51.0					10																	134161628		2203	4300	6503	134011618	SO:0001583	missense	80313	exon6			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.694C>T	10.37:g.134161628C>T	ENSP00000357603:p.Leu232Phe		134011618	NM_001143758	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	3.972	-0.008153	0.07773	.	.	ENSG00000148814	ENST00000368615;ENST00000392638;ENST00000344079;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T;T;T;T	0.51325	2.65;2.39;2.39;2.57;2.57;4.3;4.3;0.71	4.1	-5.8	0.02347	.	0.750480	0.11572	N	0.550723	T	0.19685	0.0473	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.15141	0.004;0.002;0.012;0.002;0.008	B;B;B;B;B	0.15870	0.005;0.005;0.005;0.002;0.014	T	0.32052	-0.9921	10	0.15066	T	0.55	-1.5571	11.4002	0.49866	0.0:0.5904:0.0:0.4096	.	232;105;170;232;232	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9;Q9C0I9-3	.;.;.;LRC27_HUMAN;.	F	232;232;232;232;232;170;170;105	ENSP00000357604:L232F;ENSP00000376413:L232F;ENSP00000342641:L232F;ENSP00000357603:L232F;ENSP00000357602:L232F;ENSP00000357601:L170F;ENSP00000357599:L170F;ENSP00000407949:L105F	ENSP00000342641:L232F	L	+	1	0	LRRC27	134011618	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.555000	0.05999	-1.213000	0.02617	-0.136000	0.14681	CTC		0.577	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462	
PGR	5241	broad.mit.edu	37	11	100912815	100912815	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:100912815C>T	ENST00000325455.5	-	7	3960	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_ENST00000534013.1_Missense_Mutation_p.R242Q|PGR_ENST00000263463.5_Missense_Mutation_p.R734Q	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	836	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R836Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGTTTGACTTCGTAGCCCTTC	0.383																																					p.R836Q	Pancreas(124;2271 2354 21954 22882)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2507A	11						.						84.0	82.0	83.0					11																	100912815		2203	4300	6503	100418025	SO:0001583	missense	5241	exon7			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2507G>A	11.37:g.100912815C>T	ENSP00000325120:p.Arg836Gln		100418025	NM_000926	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709829	0.89018	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463	T;T;D	0.96716	1.38;1.38;-4.1	5.49	5.49	0.81192	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.057039	0.64402	D	0.000001	D	0.95680	0.8595	L	0.39085	1.19	0.33252	D	0.558599	D;D;D	0.69078	0.997;0.994;0.959	P;P;B	0.56960	0.81;0.751;0.328	D	0.97064	0.9773	10	0.56958	D	0.05	.	12.6746	0.56887	0.0:0.9246:0.0:0.0753	.	734;836;217	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	Q	836;242;734	ENSP00000325120:R836Q;ENSP00000436561:R242Q;ENSP00000263463:R734Q	ENSP00000263463:R734Q	R	-	2	0	PGR	100418025	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.509000	0.67012	2.589000	0.87451	0.585000	0.79938	CGA		0.383	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
KIAA1377	57562	broad.mit.edu	37	11	101793451	101793451	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:101793451C>T	ENST00000263468.8	+	2	478	c.208C>T	c.(208-210)Cga>Tga	p.R70*		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	70								p.R70*(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATGTCGAAATCGAGCACGTAA	0.299																																					p.R70X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C208T	11						.						69.0	71.0	70.0					11																	101793451		2203	4299	6502	101298661	SO:0001587	stop_gained	57562	exon2			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.208C>T	11.37:g.101793451C>T	ENSP00000263468:p.Arg70*		101298661	NM_020802	Q4G0U6	Nonsense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	C	39	7.710448	0.98447	.	.	ENSG00000110318	ENST00000263468	.	.	.	5.84	4.91	0.64330	.	0.000000	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5933	13.8959	0.63770	0.1536:0.8464:0.0:0.0	.	.	.	.	X	70	.	ENSP00000263468:R70X	R	+	1	2	KIAA1377	101298661	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.027000	0.41078	1.426000	0.47256	0.591000	0.81541	CGA		0.299	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
KIAA1377	57562	broad.mit.edu	37	11	101833400	101833400	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:101833400C>T	ENST00000263468.8	+	6	1904	c.1634C>T	c.(1633-1635)tCc>tTc	p.S545F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S346F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	545								p.S545F(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAACATCATCCTTGTCTAAT	0.318																																					p.S545F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1634T	11						.						38.0	41.0	40.0					11																	101833400		2200	4288	6488	101338610	SO:0001583	missense	57562	exon6			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1634C>T	11.37:g.101833400C>T	ENSP00000263468:p.Ser545Phe		101338610	NM_020802	Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	C	6.520	0.464210	0.12402	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08896	3.04;3.04	5.11	3.24	0.37175	.	1.089970	0.07059	N	0.833376	T	0.10809	0.0264	L	0.56769	1.78	0.09310	N	1	B	0.32101	0.356	B	0.29598	0.104	T	0.32693	-0.9897	10	0.72032	D	0.01	-0.5686	6.9851	0.24723	0.0:0.6692:0.0:0.3308	.	545	Q9P2H0	K1377_HUMAN	F	545;346	ENSP00000263468:S545F;ENSP00000443184:S346F	ENSP00000263468:S545F	S	+	2	0	KIAA1377	101338610	0.000000	0.05858	0.034000	0.17996	0.055000	0.15305	0.017000	0.13399	0.654000	0.30846	0.655000	0.94253	TCC		0.318	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802	
MMP7	4316	broad.mit.edu	37	11	102398360	102398360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:102398360G>A	ENST00000260227.4	-	3	431	c.379C>T	c.(379-381)Cga>Tga	p.R127*		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	127					antibacterial peptide secretion (GO:0002779)|collagen catabolic process (GO:0030574)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R127*(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)	Marimastat(DB00786)	GACACTAATCGATCCACTGTA	0.423																																					p.R127X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C379T	11						.						126.0	121.0	123.0					11																	102398360		2203	4299	6502	101903570	SO:0001587	stop_gained	4316	exon3			Z11887	CCDS8317.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000137673	ENSG00000137673	3.4.24.23		7174	protein-coding gene	gene with protein product		178990	"""matrix metalloproteinase 7 (matrilysin, uterine)"""	MPSL1		8978768	Standard	NM_002423		Approved	PUMP-1	uc001phb.3	P09237	OTTHUMG00000048193	ENST00000260227.4:c.379C>T	11.37:g.102398360G>A	ENSP00000260227:p.Arg127*		101903570	NM_002423	Q9BTK9	Nonsense_Mutation	SNP	ENST00000260227.4	37	CCDS8317.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048752	0.36181	.	.	ENSG00000137673	ENST00000260227	.	.	.	4.85	-1.23	0.09465	.	1.285220	0.05639	N	0.583068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-22.2589	2.6775	0.05084	0.2183:0.3507:0.3196:0.1115	.	.	.	.	X	127	.	ENSP00000260227:R127X	R	-	1	2	MMP7	101903570	0.000000	0.05858	0.085000	0.20634	0.303000	0.27691	-0.124000	0.10595	0.045000	0.15804	0.563000	0.77884	CGA		0.423	MMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109633.2		
MMP8	4317	broad.mit.edu	37	11	102593330	102593330	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:102593330G>A	ENST00000236826.3	-	2	275	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	59					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.I59I(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	GCTTTTCAACGATCACATTAG	0.438																																					p.I59I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C177T	11						.						168.0	165.0	166.0					11																	102593330		2203	4299	6502	102098540	SO:0001819	synonymous_variant	4317	exon2			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.177C>T	11.37:g.102593330G>A			102098540	NM_002424	Q45F99	Silent	SNP	ENST00000236826.3	37	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	7.190	0.591383	0.13812	.	.	ENSG00000118113	ENST00000438475	.	.	.	5.62	-4.87	0.03123	.	.	.	.	.	T	0.15912	0.0383	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	T	0.28586	-1.0039	4	.	.	.	.	0.2973	0.00267	0.2943:0.2665:0.1757:0.2635	.	.	.	.	C	35	.	.	R	-	1	0	MMP8	102098540	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-2.961000	0.00672	-0.421000	0.07416	-0.294000	0.09567	CGT		0.438	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424	
CASP5	838	broad.mit.edu	37	11	104877972	104877972	+	Missense_Mutation	SNP	C	C	T	rs543265797		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:104877972C>T	ENST00000260315.3	-	3	270	c.271G>A	c.(271-273)Gat>Aat	p.D91N	CASP5_ENST00000393139.2_Missense_Mutation_p.D58N|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.D33N|CASP5_ENST00000393141.2_Missense_Mutation_p.D104N|CASP5_ENST00000526056.1_Missense_Mutation_p.D104N			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	91	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.D75N(2)|p.D104N(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTCAGAACATCGTGTTTTGCC	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		19161	0.0		0.0	False		,,,				2504	0.001				p.D104N												.	.	3	Substitution - Missense(3)	kidney(2)|large_intestine(1)	c.G310A	11						.						119.0	116.0	117.0					11																	104877972		2202	4299	6501	104383182	SO:0001583	missense	838	exon3				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.271G>A	11.37:g.104877972C>T	ENSP00000260315:p.Asp91Asn		104383182	NM_001136112	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	7.484	0.649246	0.14516	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000456094	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	4.12	-4.33	0.03677	DEATH-like (2);Caspase Recruitment (3);	1.238040	0.05334	N	0.528790	T	0.06280	0.0162	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.30973	0.022;0.302;0.08	B;B;B	0.22601	0.006;0.04;0.012	T	0.27571	-1.0070	10	0.02654	T	1	.	4.9213	0.13871	0.0:0.3456:0.158:0.4964	.	33;91;104	P51878-2;P51878;P51878-5	.;CASP5_HUMAN;.	N	104;58;91;33;104;75	ENSP00000376849:D104N;ENSP00000376847:D58N;ENSP00000260315:D91N;ENSP00000388365:D33N;ENSP00000436877:D104N;ENSP00000415241:D75N	ENSP00000260315:D91N	D	-	1	0	CASP5	104383182	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.349000	0.01093	-0.279000	0.09167	-0.423000	0.05987	GAT		0.353	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
MSANTD4	84437	broad.mit.edu	37	11	105880290	105880290	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:105880290C>T	ENST00000301919.4	-	3	2425	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	MSANTD4_ENST00000529805.1_Intron	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	337						nucleus (GO:0005634)		p.R337Q(1)									TTTCTGAATTCGAAGTCTGTC	0.388																																					p.R337Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1010A	11						.						102.0	96.0	98.0					11																	105880290		2200	4298	6498	105385500	SO:0001583	missense	84437	exon3			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.1010G>A	11.37:g.105880290C>T	ENSP00000304713:p.Arg337Gln		105385500	NM_032424	Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749928	0.49257	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.66	5.66	0.87406	.	0.140928	0.47852	D	0.000209	T	0.30916	0.0780	N	0.11560	0.145	0.37449	D	0.914742	B	0.33171	0.4	B	0.20184	0.028	T	0.32134	-0.9918	9	0.07990	T	0.79	-15.4888	19.7501	0.96265	0.0:1.0:0.0:0.0	.	337	Q8NCY6	K1826_HUMAN	Q	337	.	ENSP00000304713:R337Q	R	-	2	0	KIAA1826	105385500	1.000000	0.71417	0.145000	0.22337	0.934000	0.57294	4.783000	0.62403	2.667000	0.90743	0.491000	0.48974	CGA		0.388	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424	
KBTBD3	143879	broad.mit.edu	37	11	105923888	105923888	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:105923888T>C	ENST00000526793.1	-	3	1687	c.1528A>G	c.(1528-1530)Aca>Gca	p.T510A	KBTBD3_ENST00000531837.1_Missense_Mutation_p.T510A|KBTBD3_ENST00000534815.1_Missense_Mutation_p.T431A	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	506								p.T510A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATATACAGTGTACAGTTTACT	0.363																																					p.T510A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1528G	11						.						56.0	56.0	56.0					11																	105923888		2201	4297	6498	105429098	SO:0001583	missense	143879	exon3			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1528A>G	11.37:g.105923888T>C	ENSP00000436262:p.Thr510Ala		105429098	NM_152433	Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.190629	0.38707	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.66280	-0.2;-0.2;-0.2	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.043789	0.85682	D	0.000000	T	0.69860	0.3158	L	0.29908	0.895	0.53688	D	0.999976	D;D	0.69078	0.972;0.997	P;D	0.75020	0.615;0.985	T	0.70733	-0.4791	10	0.46703	T	0.11	.	16.4383	0.83889	0.0:0.0:0.0:1.0	.	510;506	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	A	431;510;510	ENSP00000431910:T431A;ENSP00000436262:T510A;ENSP00000432163:T510A	ENSP00000436262:T510A	T	-	1	0	KBTBD3	105429098	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	2.287000	0.76781	0.482000	0.46254	ACA		0.363	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433	
KBTBD3	143879	broad.mit.edu	37	11	105924210	105924210	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:105924210G>A	ENST00000526793.1	-	3	1365	c.1206C>T	c.(1204-1206)ctC>ctT	p.L402L	KBTBD3_ENST00000531837.1_Silent_p.L402L|KBTBD3_ENST00000534815.1_Silent_p.L323L	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	398								p.L402L(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATAATCTATCGAGAGCCATAA	0.378																																					p.L402L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1206T	11						.						70.0	67.0	68.0					11																	105924210		2201	4298	6499	105429420	SO:0001819	synonymous_variant	143879	exon3			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1206C>T	11.37:g.105924210G>A			105429420	NM_152433	Q6N066|Q86X38|Q96NK5	Silent	SNP	ENST00000526793.1	37	CCDS8334.1																																																																																				0.378	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433	
ELMOD1	55531	broad.mit.edu	37	11	107501189	107501189	+	Missense_Mutation	SNP	C	C	T	rs201382091		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:107501189C>T	ENST00000265840.7	+	3	329	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	ELMOD1_ENST00000443271.2_Missense_Mutation_p.R22C|ELMOD1_ENST00000531234.1_Missense_Mutation_p.R16C	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	22					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)	p.R22C(2)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATTTCTGTGGCGCTGCCTGAA	0.408																																					p.R22C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C64T	11						.	C	CYS/ARG,CYS/ARG	0,3712		0,0,1856	63.0	57.0	59.0		64,64	5.5	1.0	11		59	1,8181		0,1,4090	no	missense,missense	ELMOD1	NM_001130037.1,NM_018712.3	180,180	0,1,5946	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging,possibly-damaging	22/327,22/335	107501189	1,11893	1856	4091	5947	107006399	SO:0001583	missense	55531	exon3			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.64C>T	11.37:g.107501189C>T	ENSP00000265840:p.Arg22Cys		107006399	NM_001130037	B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687752	0.68157	0.0	1.22E-4	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	U	0.000000	T	0.50377	0.1612	L	0.43152	1.355	0.80722	D	1	P;P	0.44690	0.754;0.841	B;B	0.36418	0.072;0.224	T	0.52924	-0.8510	9	0.38643	T	0.18	.	19.3358	0.94319	0.0:1.0:0.0:0.0	.	22;22	Q8N336;G5E9S5	ELMD1_HUMAN;.	C	16;22;22	.	ENSP00000265840:R22C	R	+	1	0	ELMOD1	107006399	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.304000	0.78882	2.578000	0.87016	0.655000	0.94253	CGC		0.408	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712	
ELMOD1	55531	broad.mit.edu	37	11	107501440	107501440	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:107501440G>A	ENST00000265840.7	+	4	443	c.178G>A	c.(178-180)Gat>Aat	p.D60N	ELMOD1_ENST00000443271.2_Missense_Mutation_p.D60N|ELMOD1_ENST00000531234.1_Missense_Mutation_p.D54N	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	60					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)	p.D60N(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATCACTGAGGGATTCTAAAAG	0.303																																					p.D60N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G178A	11						.						91.0	86.0	87.0					11																	107501440		1830	4073	5903	107006650	SO:0001583	missense	55531	exon4			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.178G>A	11.37:g.107501440G>A	ENSP00000265840:p.Asp60Asn		107006650	NM_001130037	B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644828	0.29246	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.62	4.71	0.59529	.	0.467914	0.26349	N	0.024894	T	0.17238	0.0414	N	0.11427	0.14	0.24974	N	0.991641	B;B	0.06786	0.0;0.001	B;B	0.13407	0.002;0.009	T	0.19289	-1.0310	9	0.17369	T	0.5	.	6.7723	0.23601	0.1457:0.0:0.711:0.1432	.	60;60	Q8N336;G5E9S5	ELMD1_HUMAN;.	N	54;60;60	.	ENSP00000265840:D60N	D	+	1	0	ELMOD1	107006650	1.000000	0.71417	0.995000	0.50966	0.845000	0.48019	2.816000	0.48026	1.374000	0.46228	0.655000	0.94253	GAT		0.303	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712	
CTR9	9646	broad.mit.edu	37	11	10789919	10789919	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:10789919C>T	ENST00000361367.2	+	16	2416	c.1990C>T	c.(1990-1992)Cgt>Tgt	p.R664C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	664					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.R664C(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGATATTTTCGTGAAGCTCG	0.363																																					p.R664C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1990T	11						.						124.0	119.0	121.0					11																	10789919		2201	4294	6495	10746495	SO:0001583	missense	9646	exon16			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1990C>T	11.37:g.10789919C>T	ENSP00000355013:p.Arg664Cys		10746495	NM_014633	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329518	0.81690	.	.	ENSG00000198730	ENST00000361367	T	0.74315	-0.83	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	N	0.14661	0.345	0.80722	D	1	D	0.67145	0.996	P	0.56163	0.793	T	0.76977	-0.2759	10	0.56958	D	0.05	-13.2034	20.3334	0.98727	0.0:1.0:0.0:0.0	.	664	Q6PD62	CTR9_HUMAN	C	664	ENSP00000355013:R664C	ENSP00000355013:R664C	R	+	1	0	CTR9	10746495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.732000	0.47352	2.818000	0.97014	0.591000	0.81541	CGT		0.363	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
CTR9	9646	broad.mit.edu	37	11	10792152	10792152	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:10792152C>T	ENST00000361367.2	+	18	2771	c.2345C>T	c.(2344-2346)gCt>gTt	p.A782V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	782					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.A782V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTACTTAATGCTGTGAAAGAA	0.378																																					p.A782V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2345T	11						.						94.0	97.0	96.0					11																	10792152		2201	4294	6495	10748728	SO:0001583	missense	9646	exon18			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2345C>T	11.37:g.10792152C>T	ENSP00000355013:p.Ala782Val		10748728	NM_014633	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	C	36	5.665187	0.96745	.	.	ENSG00000198730	ENST00000361367	T	0.60548	0.18	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	M	0.89904	3.07	0.80722	D	1	D	0.59357	0.985	P	0.58780	0.845	T	0.81607	-0.0856	10	0.56958	D	0.05	-17.2739	20.5407	0.99260	0.0:1.0:0.0:0.0	.	782	Q6PD62	CTR9_HUMAN	V	782	ENSP00000355013:A782V	ENSP00000355013:A782V	A	+	2	0	CTR9	10748728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	GCT		0.378	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
CUL5	8065	broad.mit.edu	37	11	107923519	107923519	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:107923519G>T	ENST00000393094.2	+	5	1160	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	182					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)	p.E182*(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGGAGTAAGAGAATCCTATGG	0.343																																					p.E182X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G544T	11						.						98.0	96.0	97.0					11																	107923519		2201	4298	6499	107428729	SO:0001587	stop_gained	8065	exon5			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.544G>T	11.37:g.107923519G>T	ENSP00000376808:p.Glu182*		107428729	NM_003478	A8K960|O14766|Q9BZC6	Nonsense_Mutation	SNP	ENST00000393094.2	37	CCDS31668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.164887|6.164887	0.97338|0.97338	.|.	.|.	ENSG00000166266|ENSG00000166266	ENST00000393094|ENST00000532782	.|T	.|0.70986	.|-0.53	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.208452|.	0.50627|.	D|.	0.000105|.	.|T	.|0.62938	.|0.2469	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57242	.|-0.7845	.|5	0.66056|0.02654	D|T	0.02|1	-19.6389|-19.6389	19.9574|19.9574	0.97228|0.97228	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	182|78	.|ENSP00000431221:R78I	ENSP00000376808:E182X|ENSP00000431221:R78I	E|R	+|+	1|2	0|0	CUL5|CUL5	107428729|107428729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	9.827000|9.827000	0.99397|0.99397	2.720000|2.720000	0.93068|0.93068	0.643000|0.643000	0.83706|0.83706	GAA|AGA		0.343	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1		
NPAT	4863	broad.mit.edu	37	11	108043387	108043387	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:108043387G>A	ENST00000278612.8	-	13	2429	c.2324C>T	c.(2323-2325)tCt>tTt	p.S775F	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	775					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S775F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTAGTAGGAGAAGACAAGAT	0.378																																					p.S775F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2324T	11						.						79.0	74.0	75.0					11																	108043387		1828	4090	5918	107548597	SO:0001583	missense	4863	exon13			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2324C>T	11.37:g.108043387G>A	ENSP00000278612:p.Ser775Phe		107548597	NM_002519	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293279	0.80914	.	.	ENSG00000149308	ENST00000278612	T	0.13657	2.57	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	M	0.69823	2.125	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.68943	0.961;0.943	T	0.04360	-1.0957	10	0.87932	D	0	-12.7039	20.6634	0.99662	0.0:0.0:1.0:0.0	.	775;775	B9EG70;Q14207	.;NPAT_HUMAN	F	775	ENSP00000278612:S775F	ENSP00000278612:S775F	S	-	2	0	NPAT	107548597	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.407000	0.90218	2.894000	0.99253	0.655000	0.94253	TCT		0.378	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519	
NPAT	4863	broad.mit.edu	37	11	108059885	108059885	+	Silent	SNP	C	C	T	rs138978380	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:108059885C>T	ENST00000278612.8	-	6	609	c.504G>A	c.(502-504)tcG>tcA	p.S168S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	168	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S168S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AATATGACCTCGATGGATCTG	0.393													C|||	7	0.00139776	0.0	0.0	5008	,	,		18607	0.0069		0.0	False		,,,				2504	0.0				p.S168S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G504A	11						.						115.0	114.0	114.0					11																	108059885		1927	4133	6060	107565095	SO:0001819	synonymous_variant	4863	exon6			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.504G>A	11.37:g.108059885C>T			107565095	NM_002519	A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	CCDS41710.1																																																																																				0.393	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519	
ATM	472	broad.mit.edu	37	11	108121623	108121623	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:108121623G>T	ENST00000452508.2	+	11	1620	c.1431G>T	c.(1429-1431)aaG>aaT	p.K477N	ATM_ENST00000278616.4_Missense_Mutation_p.K477N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	477					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.K477N(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GCTCACAAAAGTCAGATTTAT	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.K477N		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1431T	11						.						87.0	91.0	90.0					11																	108121623		2201	4298	6499	107626833	SO:0001583	missense	472	exon10	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1431G>T	11.37:g.108121623G>T	ENSP00000388058:p.Lys477Asn		107626833	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339678	0.60963	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.49432	0.78;0.78;0.78	5.68	1.69	0.24217	Armadillo-type fold (1);	0.231983	0.43260	D	0.000585	T	0.47021	0.1423	M	0.64997	1.995	0.27851	N	0.940764	P	0.52842	0.956	P	0.46796	0.527	T	0.45585	-0.9251	10	0.59425	D	0.04	.	9.0791	0.36540	0.4373:0.0:0.5627:0.0	.	477	Q13315	ATM_HUMAN	N	477	ENSP00000435747:K477N;ENSP00000278616:K477N;ENSP00000388058:K477N	ENSP00000278616:K477N	K	+	3	2	ATM	107626833	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	0.959000	0.29240	0.054000	0.16065	-0.424000	0.05967	AAG		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
ATM	472	broad.mit.edu	37	11	108172385	108172385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:108172385C>T	ENST00000452508.2	+	36	5377	c.5188C>T	c.(5188-5190)Cga>Tga	p.R1730*	ATM_ENST00000278616.4_Nonsense_Mutation_p.R1730*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1730					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R1730*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTCAAAGTTCGATCAGCAGC	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.R1730X		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C5188T	11	GRCh37	CM990211	ATM	M		.						125.0	124.0	125.0					11																	108172385		2201	4298	6499	107677595	SO:0001587	stop_gained	472	exon35	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5188C>T	11.37:g.108172385C>T	ENSP00000388058:p.Arg1730*		107677595	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	47	13.596063	0.99752	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	4.9	3.95	0.45737	.	0.056256	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	12.8088	0.57628	0.358:0.642:0.0:0.0	.	.	.	.	X	1730	.	ENSP00000278616:R1730X	R	+	1	2	ATM	107677595	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.479000	0.45197	1.136000	0.42199	0.460000	0.39030	CGA		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
EIF4G2	1982	broad.mit.edu	37	11	10823859	10823859	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:10823859T>G	ENST00000526148.1	-	12	1630	c.1120A>C	c.(1120-1122)Atg>Ctg	p.M374L	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000339995.5_Missense_Mutation_p.M374L|EIF4G2_ENST00000525681.1_Missense_Mutation_p.M374L|EIF4G2_ENST00000396525.2_Missense_Mutation_p.M374L|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.M374L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGTCCAAACATATCAGCAAGT	0.408																																					p.M374L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1120C	11						.						137.0	133.0	134.0					11																	10823859		2201	4294	6495	10780435	SO:0001583	missense	1982	exon12			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1120A>C	11.37:g.10823859T>G	ENSP00000433664:p.Met374Leu		10780435	NM_001418		Missense_Mutation	SNP	ENST00000526148.1	37	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632486	0.46944	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.21543	2.22;2.22;2.22;2.32;2.0	5.77	5.77	0.91146	.	0.066596	0.85682	D	0.000000	T	0.23133	0.0559	L	0.49350	1.555	0.47737	D	0.999507	B;B;B	0.13594	0.008;0.005;0.005	B;B;B	0.11329	0.006;0.004;0.004	T	0.10567	-1.0624	9	0.33141	T	0.24	-8.5202	16.3948	0.83586	0.0:0.0:0.0:1.0	.	374;374;447	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	L	374;374;374;374;447;374	ENSP00000433664:M374L;ENSP00000433371:M374L;ENSP00000340281:M374L;ENSP00000379778:M374L;ENSP00000431583:M374L	ENSP00000340281:M374L	M	-	1	0	EIF4G2	10780435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.889000	0.87307	2.326000	0.78906	0.533000	0.62120	ATG		0.408	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418	
ATM	472	broad.mit.edu	37	11	108188130	108188130	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:108188130C>A	ENST00000452508.2	+	44	6418	c.6229C>A	c.(6229-6231)Ctt>Att	p.L2077I	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2077I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2077	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2077I(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGCCATATTCTTTCCGTCTA	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											p.L2077I		yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6229A	11						.						86.0	88.0	87.0					11																	108188130		2201	4298	6499	107693340	SO:0001583	missense	472	exon43	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6229C>A	11.37:g.108188130C>A	ENSP00000388058:p.Leu2077Ile		107693340	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693721	0.88735	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01933	4.55;4.55	6.03	6.03	0.97812	PIK-related kinase (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.00852	-1.1540	10	0.35671	T	0.21	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	2077	Q13315	ATM_HUMAN	I	2077	ENSP00000278616:L2077I;ENSP00000388058:L2077I	ENSP00000278616:L2077I	L	+	1	0	ATM	107693340	1.000000	0.71417	0.985000	0.45067	0.768000	0.43524	7.133000	0.77259	2.868000	0.98415	0.555000	0.69702	CTT		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
EXPH5	23086	broad.mit.edu	37	11	108383470	108383470	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:108383470C>A	ENST00000265843.4	-	6	2874	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	EXPH5_ENST00000525344.1_Nonsense_Mutation_p.E915*|EXPH5_ENST00000428840.1_Nonsense_Mutation_p.E846*|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.E734*	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	922					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.E922*(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCTTTTTCTTCTCTTTCTCCT	0.418																																					p.E922X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2764T	11						.						235.0	212.0	219.0					11																	108383470		2201	4298	6499	107888680	SO:0001587	stop_gained	23086	exon6				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2764G>T	11.37:g.108383470C>A	ENSP00000265843:p.Glu922*		107888680	NM_015065	Q2KHM1|Q9Y4D6	Nonsense_Mutation	SNP	ENST00000265843.4	37	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	37	6.571563	0.97671	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	.	.	.	5.87	4.97	0.65823	.	0.683218	0.14105	N	0.341085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.4208	12.055	0.53529	0.0:0.9201:0.0:0.0799	.	.	.	.	X	922;846;734;915;846;734	.	ENSP00000265843:E922X	E	-	1	0	EXPH5	107888680	0.274000	0.24191	0.018000	0.16275	0.162000	0.22319	1.073000	0.30691	1.505000	0.48720	-0.271000	0.10264	GAA		0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
EXPH5	23086	broad.mit.edu	37	11	108385508	108385508	+	Silent	SNP	G	G	A	rs116742815	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:108385508G>A	ENST00000265843.4	-	6	836	c.726C>T	c.(724-726)ttC>ttT	p.F242F	EXPH5_ENST00000525344.1_Silent_p.F235F|EXPH5_ENST00000428840.1_Silent_p.F166F|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000443411.1_Silent_p.F54F	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	242					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.F242F(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAAAGTGACCGAACTGTGTTC	0.383																																					p.F242F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C726T	11						.						156.0	141.0	146.0					11																	108385508		2201	4298	6499	107890718	SO:0001819	synonymous_variant	23086	exon6				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.726C>T	11.37:g.108385508G>A			107890718	NM_015065	Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	CCDS8341.1																																																																																				0.383	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065	
ZC3H12C	85463	broad.mit.edu	37	11	110007877	110007877	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:110007877A>G	ENST00000278590.3	+	2	562	c.511A>G	c.(511-513)Aag>Gag	p.K171E	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K172E|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.K140E	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	171							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.K171E(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTTTGCACTTAAGTTAGGTTA	0.388																																					p.K171E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A511G	11						.						69.0	65.0	66.0					11																	110007877		1852	4100	5952	109513087	SO:0001583	missense	85463	exon2				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.511A>G	11.37:g.110007877A>G	ENSP00000278590:p.Lys171Glu		109513087	NM_033390	B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	a	23.9	4.465083	0.84425	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.58940	0.3;0.3;0.33	5.46	5.46	0.80206	.	0.871488	0.09011	U	0.861548	T	0.80544	0.4643	M	0.84683	2.71	0.58432	D	0.999998	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.80764	0.98;0.994;0.98	T	0.76812	-0.2821	10	0.87932	D	0	-15.8141	15.5248	0.75894	1.0:0.0:0.0:0.0	.	172;171;171	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	E	171;172;140	ENSP00000278590:K171E;ENSP00000431821:K172E;ENSP00000413094:K140E	ENSP00000278590:K171E	K	+	1	0	ZC3H12C	109513087	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.958000	0.93099	2.066000	0.61787	0.528000	0.53228	AAG		0.388	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390	
ARHGAP20	57569	broad.mit.edu	37	11	110451072	110451072	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:110451072C>A	ENST00000260283.4	-	16	2882	c.2598G>T	c.(2596-2598)aaG>aaT	p.K866N	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.K843N|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.K840N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.K840N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.K830N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.K409N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.K830N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	866					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.K866N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TATGTTGTTTCTTTGAATAAA	0.483																																					p.K866N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2598T	11						.						109.0	107.0	108.0					11																	110451072		2201	4298	6499	109956282	SO:0001583	missense	57569	exon16			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2598G>T	11.37:g.110451072C>A	ENSP00000260283:p.Lys866Asn		109956282	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269461	0.23221	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.10860	2.83;2.83;2.87;2.83;2.83;2.83;2.83	4.72	2.78	0.32641	.	0.467573	0.20163	N	0.097915	T	0.18593	0.0446	M	0.67953	2.075	0.19300	N	0.99997	P;P;P	0.47762	0.9;0.839;0.9	P;B;P	0.53185	0.72;0.432;0.72	T	0.04268	-1.0964	10	0.56958	D	0.05	.	4.9899	0.14209	0.1496:0.6246:0.1449:0.0809	.	840;866;843	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	N	866;840;409;843;830;840;830	ENSP00000260283:K866N;ENSP00000349660:K840N;ENSP00000437905:K409N;ENSP00000432076:K843N;ENSP00000436319:K830N;ENSP00000436522:K840N;ENSP00000431399:K830N	ENSP00000260283:K866N	K	-	3	2	ARHGAP20	109956282	0.697000	0.27767	0.791000	0.31998	0.191000	0.23601	-0.033000	0.12246	1.191000	0.43056	-0.176000	0.13171	AAG		0.483	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
ARHGAP20	57569	broad.mit.edu	37	11	110457040	110457040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:110457040G>A	ENST00000260283.4	-	13	1599	c.1315C>T	c.(1315-1317)Cga>Tga	p.R439*	ARHGAP20_ENST00000524756.1_Nonsense_Mutation_p.R416*|ARHGAP20_ENST00000357139.3_Nonsense_Mutation_p.R413*|ARHGAP20_ENST00000533353.1_Nonsense_Mutation_p.R413*|ARHGAP20_ENST00000527598.1_Nonsense_Mutation_p.R403*|ARHGAP20_ENST00000529591.1_5'UTR|ARHGAP20_ENST00000528829.1_Nonsense_Mutation_p.R403*	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	439	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R439*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGAATATTTCGCAGAAAATCC	0.299																																					p.R439X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1315T	11						.						45.0	50.0	48.0					11																	110457040		2197	4285	6482	109962250	SO:0001587	stop_gained	57569	exon13			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1315C>T	11.37:g.110457040G>A	ENSP00000260283:p.Arg439*		109962250	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Nonsense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	41	8.616441	0.98886	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	.	.	.	5.86	3.94	0.45596	.	0.077775	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0457	0.71825	0.0:0.0:0.7333:0.2667	.	.	.	.	X	439;413;416;403;413;403	.	ENSP00000260283:R439X	R	-	1	2	ARHGAP20	109962250	1.000000	0.71417	0.947000	0.38551	0.847000	0.48162	5.532000	0.67154	0.768000	0.33290	-0.175000	0.13238	CGA		0.299	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
ARHGAP20	57569	broad.mit.edu	37	11	110461484	110461484	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:110461484A>G	ENST00000260283.4	-	12	1477	c.1193T>C	c.(1192-1194)tTc>tCc	p.F398S	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.F375S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.F372S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.F372S|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.F362S|ARHGAP20_ENST00000529591.1_5'Flank|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.F362S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	398	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.F398S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGATTGCCTGAAGATACCTTT	0.378																																					p.F398S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1193C	11						.						93.0	89.0	90.0					11																	110461484		2201	4298	6499	109966694	SO:0001583	missense	57569	exon12			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1193T>C	11.37:g.110461484A>G	ENSP00000260283:p.Phe398Ser		109966694	NM_020809	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293796	0.60086	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	6.05	6.05	0.98169	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.87317	0.6147	H	0.97896	4.1	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91919	0.5546	10	0.87932	D	0	.	16.5841	0.84723	1.0:0.0:0.0:0.0	.	398;375	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	S	398;372;375;362;372;362	ENSP00000260283:F398S;ENSP00000349660:F372S;ENSP00000432076:F375S;ENSP00000436319:F362S;ENSP00000436522:F372S;ENSP00000431399:F362S	ENSP00000260283:F398S	F	-	2	0	ARHGAP20	109966694	1.000000	0.71417	0.982000	0.44146	0.022000	0.10575	8.046000	0.89438	2.315000	0.78130	0.528000	0.53228	TTC		0.378	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	
C11orf53	341032	broad.mit.edu	37	11	111156705	111156705	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:111156705C>T	ENST00000280325.4	+	4	784	c.637C>T	c.(637-639)Cat>Tat	p.H213Y		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	213								p.H213Y(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CGGTTCCCTCCATGACCCTTC	0.562																																					p.H213Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C637T	11						.						79.0	79.0	79.0					11																	111156705		2201	4297	6498	110661915	SO:0001583	missense	341032	exon4			BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.637C>T	11.37:g.111156705C>T	ENSP00000280325:p.His213Tyr		110661915	NM_198498		Missense_Mutation	SNP	ENST00000280325.4	37	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860520	0.32884	.	.	ENSG00000150750	ENST00000280325	.	.	.	5.08	4.15	0.48705	.	0.845334	0.10953	N	0.615879	T	0.31420	0.0796	L	0.29908	0.895	0.27902	N	0.938924	P	0.37015	0.578	B	0.38056	0.264	T	0.05321	-1.0892	9	0.07813	T	0.8	-0.7754	13.0989	0.59208	0.0:0.8374:0.1626:0.0	.	213	Q8IXP5	CK053_HUMAN	Y	213	.	ENSP00000280325:H213Y	H	+	1	0	C11orf53	110661915	0.969000	0.33509	0.186000	0.23195	0.146000	0.21551	4.181000	0.58303	1.097000	0.41459	0.655000	0.94253	CAT		0.562	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498	
C11orf88	399949	broad.mit.edu	37	11	111386778	111386778	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:111386778C>A	ENST00000375618.4	+	3	282	c.282C>A	c.(280-282)atC>atA	p.I94I	C11orf88_ENST00000529167.1_Silent_p.I94I|MIR34C_ENST00000384831.1_RNA|C11orf88_ENST00000332814.6_Silent_p.I94I|RP11-794P6.6_ENST00000530283.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	94								p.I94I(1)		endometrium(1)|large_intestine(3)|lung(2)	6						ATAGAGACATCTTTGCCGAAG	0.303																																					p.I94I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282A	11						.						73.0	73.0	73.0					11																	111386778		1791	4055	5846	110891988	SO:0001819	synonymous_variant	399949	exon3			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.282C>A	11.37:g.111386778C>A			110891988	NM_001100388	E9PAN0|Q6ZRL3	Silent	SNP	ENST00000375618.4	37	CCDS41713.1																																																																																				0.303	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388	
LAYN	143903	broad.mit.edu	37	11	111414781	111414781	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:111414781C>T	ENST00000375615.3	+	3	428	c.243C>T	c.(241-243)atC>atT	p.I81I	LAYN_ENST00000375614.2_Silent_p.I73I|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000525126.1_Silent_p.I81I|LAYN_ENST00000533265.1_Silent_p.I73I|LAYN_ENST00000436913.2_5'UTR	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	81	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.I73I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	TAGTCAGCATCGAGTCTGAAG	0.453																																					p.I73I	Ovarian(17;551 586 12136 22082 22900)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	11						.						101.0	91.0	95.0					11																	111414781		2201	4297	6498	110919991	SO:0001819	synonymous_variant	143903	exon2				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.243C>T	11.37:g.111414781C>T			110919991	NM_178834	A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Silent	SNP	ENST00000375615.3	37	CCDS58178.1																																																																																				0.453	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	NM_178834	
FDXACB1	91893	broad.mit.edu	37	11	111746123	111746123	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:111746123A>G	ENST00000260257.4	-	5	1445	c.1398T>C	c.(1396-1398)atT>atC	p.I466I	FDXACB1_ENST00000542429.1_Silent_p.I317I|ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	466					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.I466I(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						CAGACCCAATAATTAGATCCT	0.368																																					p.I466I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T1398C	11						.						72.0	70.0	71.0					11																	111746123		1882	4113	5995	111251333	SO:0001819	synonymous_variant	91893	exon5				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1398T>C	11.37:g.111746123A>G			111251333	NM_138378	A0PJW7|B4DUU2	Silent	SNP	ENST00000260257.4	37	CCDS44729.1																																																																																				0.368	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378	
PIH1D2	120379	broad.mit.edu	37	11	111942470	111942470	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:111942470T>G	ENST00000280350.4	-	3	412	c.190A>C	c.(190-192)Aaa>Caa	p.K64Q	PIH1D2_ENST00000431456.1_Missense_Mutation_p.K64Q|C11orf57_ENST00000280352.9_5'Flank|C11orf57_ENST00000532163.1_5'Flank|PIH1D2_ENST00000528775.1_Missense_Mutation_p.K64Q|C11orf57_ENST00000420986.2_5'Flank|PIH1D2_ENST00000521853.2_5'UTR|PIH1D2_ENST00000530641.1_Missense_Mutation_p.K64Q|C11orf57_ENST00000530104.1_5'Flank|PIH1D2_ENST00000532211.1_Missense_Mutation_p.K64Q|C11orf57_ENST00000393047.3_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	64								p.K64Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		AAAAGTATTTTTTCTTTTGGT	0.428																																					p.K64Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A190C	11						.						86.0	88.0	87.0					11																	111942470		2201	4297	6498	111447680	SO:0001583	missense	120379	exon3			BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.190A>C	11.37:g.111942470T>G	ENSP00000280350:p.Lys64Gln		111447680	NM_001082619	B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.66|17.66	3.445407|3.445407	0.63178|0.63178	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641;ENST00000525744|ENST00000525072	T;T;T;T;T;T|.	0.52295|.	0.75;0.75;0.67;0.67;0.76;0.69|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.465692|0.465692	0.25639|0.25639	N|N	0.029285|0.029285	T|T	0.65228|0.65228	0.2671|0.2671	M|M	0.65320|0.65320	2|2	0.37578|0.37578	D|D	0.919699|0.919699	P;P;P|.	0.48640|.	0.842;0.842;0.913|.	P;P;P|.	0.48114|.	0.561;0.561;0.567|.	T|T	0.69105|0.69105	-0.5233|-0.5233	10|6	0.15066|.	T|.	0.55|.	-22.2869|-22.2869	12.2699|12.2699	0.54700|0.54700	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	64;64;64|.	B4DU48;E9PD82;Q8WWB5|.	.;.;PIHD2_HUMAN|.	Q|T	64;64;64;64;64;29|36	ENSP00000434275:K64Q;ENSP00000388209:K64Q;ENSP00000431841:K64Q;ENSP00000280350:K64Q;ENSP00000431147:K64Q;ENSP00000433297:K29Q|.	ENSP00000280350:K64Q|.	K|K	-|-	1|2	0|0	PIH1D2|PIH1D2	111447680|111447680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.741000|2.741000	0.47426|0.47426	2.090000|2.090000	0.63153|0.63153	0.459000|0.459000	0.35465|0.35465	AAA|AAA		0.428	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789	
NCAM1	4684	broad.mit.edu	37	11	113102999	113102999	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:113102999C>T	ENST00000533760.1	+	10	1563	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	NCAM1_ENST00000316851.7_Missense_Mutation_p.R440W|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.R449W	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	450	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.R449W(3)|p.R440W(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTCATGGTTTCGGGATGGCCA	0.552																																					p.S440L												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C1319T	11						.						72.0	73.0	73.0					11																	113102999		2026	4193	6219	112608209	SO:0001583	missense	4684	exon10				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.964C>T	11.37:g.113102999C>T	ENSP00000473281:p.Arg322Trp		112608209	NM_001076682	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		.	.	.	.	.	.	.	.	.	.	C	20.7	4.038920	0.75617	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.74002	-0.8;-0.8	5.73	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.071293	0.53938	U	0.000042	D	0.85396	0.5687	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.86032	0.1514	9	0.46703	T	0.11	-39.5648	14.0331	0.64629	0.3884:0.6116:0.0:0.0	.	450;440;450;440	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	W	322;449;440	ENSP00000384055:R449W;ENSP00000318472:R440W	ENSP00000318472:R440W	R	+	1	2	NCAM1	112608209	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	2.277000	0.43417	1.520000	0.48965	0.557000	0.71058	CGG		0.552	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615	
TTC12	54970	broad.mit.edu	37	11	113211429	113211429	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:113211429C>A	ENST00000529221.1	+	11	975	c.870C>A	c.(868-870)atC>atA	p.I290I	TTC12_ENST00000393020.1_Silent_p.I290I|TTC12_ENST00000314756.3_Silent_p.I290I|TTC12_ENST00000483239.2_Silent_p.I296I	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	290								p.I290I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GATTTAGTATCATCAGTGACA	0.438																																					p.I290I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C870A	11						.						128.0	115.0	120.0					11																	113211429		2201	4296	6497	112716639	SO:0001819	synonymous_variant	54970	exon11			AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.870C>A	11.37:g.113211429C>A			112716639	NM_017868	Q8N5H9|Q9NWY3	Silent	SNP	ENST00000529221.1	37	CCDS8360.2																																																																																				0.438	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868	
USP28	57646	broad.mit.edu	37	11	113698036	113698036	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:113698036C>A	ENST00000003302.4	-	11	1174	c.1106G>T	c.(1105-1107)aGa>aTa	p.R369I	USP28_ENST00000544967.1_Missense_Mutation_p.R77I|USP28_ENST00000260188.5_Missense_Mutation_p.R369I|USP28_ENST00000545540.1_Missense_Mutation_p.R244I|USP28_ENST00000537706.1_Missense_Mutation_p.R369I	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	369	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R369I(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAACTCAAATCTTGAGAGTTC	0.368																																					p.R369I	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1106T	11						.						72.0	73.0	72.0					11																	113698036		2201	4296	6497	113203246	SO:0001583	missense	57646	exon11			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1106G>T	11.37:g.113698036C>A	ENSP00000003302:p.Arg369Ile		113203246	NM_020886	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954873	0.92726	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;D	0.91894	0.13;0.13;0.13;0.13;0.13;-2.93	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.97592	0.9211	H	0.96604	3.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.98776	1.0730	10	0.87932	D	0	-14.812	18.4742	0.90786	0.0:1.0:0.0:0.0	.	244;369;369;77	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	I	369;369;77;244;133;369	ENSP00000003302:R369I;ENSP00000260188:R369I;ENSP00000442431:R77I;ENSP00000444991:R244I;ENSP00000442257:R133I;ENSP00000445743:R369I	ENSP00000003302:R369I	R	-	2	0	USP28	113203246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.649000	0.89929	0.563000	0.77884	AGA		0.368	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
HTR3B	9177	broad.mit.edu	37	11	113813713	113813713	+	Missense_Mutation	SNP	C	C	T	rs150117061		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:113813713C>T	ENST00000260191.2	+	7	963	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	HTR3B_ENST00000537778.1_Missense_Mutation_p.R225C	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	236					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)	p.R236C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GGTGGTGATGCGCAGGCACCC	0.547																																					p.R236C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C706T	11						.	C	CYS/ARG	0,4402		0,0,2201	73.0	61.0	65.0		706	5.3	1.0	11	dbSNP_134	65	2,8590	2.2+/-6.3	0,2,4294	yes	missense	HTR3B	NM_006028.4	180	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	236/442	113813713	2,12992	2201	4296	6497	113318923	SO:0001583	missense	9177	exon7			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.706C>T	11.37:g.113813713C>T	ENSP00000260191:p.Arg236Cys		113318923	NM_006028	B0YJ23|Q0VJC3	Missense_Mutation	SNP	ENST00000260191.2	37	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364590	0.61513	0.0	2.33E-4	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.80824	-1.42;-1.42	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053906	0.85682	D	0.000000	D	0.92909	0.7744	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.94659	0.7846	10	0.87932	D	0	-11.154	18.9886	0.92782	0.0:1.0:0.0:0.0	.	225;236	O95264-2;O95264	.;5HT3B_HUMAN	C	236;225	ENSP00000260191:R236C;ENSP00000443118:R225C	ENSP00000260191:R236C	R	+	1	0	HTR3B	113318923	1.000000	0.71417	0.995000	0.50966	0.051000	0.14879	4.676000	0.61627	2.501000	0.84356	0.585000	0.79938	CGC		0.547	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028	
HTR3A	3359	broad.mit.edu	37	11	113856847	113856847	+	Missense_Mutation	SNP	C	C	T	rs139246177	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:113856847C>T	ENST00000504030.2	+	6	1100	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	HTR3A_ENST00000375498.2_Missense_Mutation_p.R225W|HTR3A_ENST00000299961.5_Missense_Mutation_p.R204W|HTR3A_ENST00000506841.2_Missense_Mutation_p.R219W|HTR3A_ENST00000355556.2_Missense_Mutation_p.R225W|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	219					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)	p.R219W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	GCCCTACTTTCGGGAGTTCAG	0.478																																					p.R225W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C673T	11						.	C	TRP/ARG,TRP/ARG,TRP/ARG	0,4402		0,0,2201	168.0	174.0	172.0		673,610,673	4.3	0.0	11	dbSNP_134	172	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense,missense	HTR3A	NM_000869.5,NM_001161772.2,NM_213621.3	101,101,101	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	225/485,204/464,225/517	113856847	1,12993	2201	4296	6497	113362057	SO:0001583	missense	3359	exon6			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.655C>T	11.37:g.113856847C>T	ENSP00000424189:p.Arg219Trp		113362057	NM_000869	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37		.	.	.	.	.	.	.	.	.	.	C	10.14	1.267837	0.23136	0.0	1.16E-4	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000299961	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.19	4.27	0.50696	.	0.524214	0.21569	N	0.072432	D	0.84023	0.5381	L	0.54965	1.715	0.23043	N	0.998384	D;B;D	0.69078	0.997;0.085;0.997	P;B;P	0.56916	0.72;0.009;0.809	T	0.76987	-0.2755	10	0.72032	D	0.01	-8.5225	13.06	0.59002	0.4111:0.5889:0.0:0.0	.	204;225;225	B4DSY6;G5E986;Q7KZM7	.;.;.	W	219;225;225;219;204	ENSP00000424189:R219W;ENSP00000347754:R225W;ENSP00000364648:R225W;ENSP00000424776:R219W;ENSP00000299961:R204W	ENSP00000299961:R204W	R	+	1	2	HTR3A	113362057	0.012000	0.17670	0.002000	0.10522	0.024000	0.10985	2.421000	0.44688	1.285000	0.44548	0.655000	0.94253	CGG		0.478	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869	
ZBTB16	7704	broad.mit.edu	37	11	113934368	113934368	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:113934368G>A	ENST00000335953.4	+	2	726	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E116K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	116					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E116K(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTACCTGGAGGAACAGTGCCT	0.592																																					p.E116K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G346A	11						.						49.0	48.0	48.0					11																	113934368		2201	4296	6497	113439578	SO:0001583	missense	7704	exon2			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.346G>A	11.37:g.113934368G>A	ENSP00000338157:p.Glu116Lys		113439578	NM_006006	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321433	0.95682	.	.	ENSG00000109906	ENST00000335953;ENST00000535700;ENST00000392996;ENST00000310883	T;T;T	0.67345	-0.26;-0.26;-0.26	5.53	5.53	0.82687	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.73521	0.3597	N	0.25144	0.715	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.991;0.994	T	0.75306	-0.3364	10	0.54805	T	0.06	-17.5	19.827	0.96621	0.0:0.0:1.0:0.0	.	116;121	Q05516;Q59H43	ZBT16_HUMAN;.	K	116	ENSP00000338157:E116K;ENSP00000443013:E116K;ENSP00000376721:E116K	ENSP00000309507:E116K	E	+	1	0	ZBTB16	113439578	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.786000	0.99046	2.759000	0.94783	0.561000	0.74099	GAA		0.592	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006	
RBM7	10179	broad.mit.edu	37	11	114270820	114270820	+	5'UTR	SNP	T	T	G	rs372094787	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:114270820T>G	ENST00000540163.1	+	0	69				RBM7_ENST00000541475.1_5'Flank|C11orf71_ENST00000325636.4_Silent_p.P78P|RBM7_ENST00000375490.5_5'Flank|RBM7_ENST00000545678.1_5'Flank|RBM7_ENST00000544582.1_5'Flank|RP11-212D19.4_ENST00000544347.1_5'Flank			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7						meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P78P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CCCGGCCATCTGGTTCCCTTG	0.627																																					p.P78P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A234C	11						.						27.0	31.0	30.0					11																	114270820		1876	4108	5984	113776030	SO:0001623	5_prime_UTR_variant	54494	exon1			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.-574T>G	11.37:g.114270820T>G			113776030	NM_019021	B2R6K8|Q9NUT4	Silent	SNP	ENST00000540163.1	37	CCDS8370.1																																																																																				0.627	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090	
RBM7	10179	broad.mit.edu	37	11	114278339	114278339	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:114278339C>A	ENST00000540163.1	+	5	1253	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000375490.5_Missense_Mutation_p.S205Y|RBM7_ENST00000545678.1_Missense_Mutation_p.S84Y|RBM7_ENST00000544582.1_Intron|RP11-212D19.4_ENST00000544347.1_Intron			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	204					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S204Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGAATGAATTCTTATCCCTAC	0.433																																					p.S204Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611A	11						.						143.0	120.0	128.0					11																	114278339		2201	4296	6497	113783549	SO:0001583	missense	10179	exon5			AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.611C>A	11.37:g.114278339C>A	ENSP00000439918:p.Ser204Tyr		113783549	NM_016090	B2R6K8|Q9NUT4	Missense_Mutation	SNP	ENST00000540163.1	37	CCDS8370.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403004	0.62288	.	.	ENSG00000076053	ENST00000540163;ENST00000375490;ENST00000545678	T;T	0.31510	1.49;2.47	5.75	4.85	0.62838	.	0.402422	0.30920	N	0.008603	T	0.51176	0.1659	M	0.61703	1.905	0.43953	D	0.996625	D;D	0.89917	1.0;0.999	D;D	0.71184	0.972;0.956	T	0.54503	-0.8284	10	0.87932	D	0	-18.8111	13.1851	0.59675	0.0:0.9235:0.0:0.0765	.	204;204	Q6IRX3;Q9Y580	.;RBM7_HUMAN	Y	204;205;84	ENSP00000439918:S204Y;ENSP00000364639:S205Y	ENSP00000364639:S205Y	S	+	2	0	RBM7	113783549	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.421000	0.59848	1.424000	0.47217	0.650000	0.86243	TCT		0.433	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090	
CADM1	23705	broad.mit.edu	37	11	115047275	115047275	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:115047275G>A	ENST00000452722.3	-	10	1268	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Silent_p.D388D|CADM1_ENST00000537058.1_Silent_p.D427D|CADM1_ENST00000331581.6_Silent_p.D445D|CADM1_ENST00000536727.1_Silent_p.D417D	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.D416D(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CGTCTGCTGCGTCATCGGCTC	0.453																																					p.D416D												.	.	2	Substitution - coding silent(2)	cervix(1)|large_intestine(1)	c.C1248T	11						.						235.0	212.0	220.0					11																	115047275		2201	4296	6497	114552485	SO:0001819	synonymous_variant	23705	exon10			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1248C>T	11.37:g.115047275G>A			114552485	NM_014333		Silent	SNP	ENST00000452722.3	37	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	2.658	-0.280418	0.05642	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.36	3.36	0.38483	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52704	-0.8540	4	.	.	.	.	7.2924	0.26374	0.3073:0.0:0.6927:0.0	.	.	.	.	C	387	.	.	R	-	1	0	CADM1	114552485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.417000	0.44653	1.491000	0.48482	0.655000	0.94253	CGC		0.453	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
BUD13	84811	broad.mit.edu	37	11	116631476	116631476	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:116631476C>T	ENST00000260210.4	-	5	1252	c.1229G>A	c.(1228-1230)cGa>cAa	p.R410Q	BUD13_ENST00000375445.3_Missense_Mutation_p.R276Q	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	410					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.R410Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTGACTCCTTCGAGGCGGGGA	0.502																																					p.R410Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1229A	11						.						89.0	91.0	90.0					11																	116631476		2201	4296	6497	116136686	SO:0001583	missense	84811	exon5			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1229G>A	11.37:g.116631476C>T	ENSP00000260210:p.Arg410Gln		116136686	NM_032725	A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957693	0.92726	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.27557	1.66;1.76	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	M	0.86268	2.805	0.47547	D	0.999459	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.976;0.993;0.964	T	0.63954	-0.6520	10	0.87932	D	0	-10.2644	14.5099	0.67776	0.1463:0.8537:0.0:0.0	.	410;276;410	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	Q	276;410	ENSP00000364594:R276Q;ENSP00000260210:R410Q	ENSP00000260210:R410Q	R	-	2	0	BUD13	116136686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.413000	0.52686	2.906000	0.99361	0.655000	0.94253	CGA		0.502	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725	
SIK3	23387	broad.mit.edu	37	11	116798018	116798018	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:116798018A>C	ENST00000292055.4	-	4	394	c.359T>G	c.(358-360)tTt>tGt	p.F120C	SIK3_ENST00000375300.1_Missense_Mutation_p.F178C|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.F178C|SIK3_ENST00000542607.1_Missense_Mutation_p.F120C|SIK3_ENST00000434315.2_Missense_Mutation_p.F19C	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.F178C(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ACAGTGACAAAAATAGACAGC	0.423																																					p.F120C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T359G	11						.						170.0	153.0	159.0					11																	116798018		2201	4296	6497	116303228	SO:0001583	missense	23387	exon4			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.359T>G	11.37:g.116798018A>C	ENSP00000292055:p.Phe120Cys		116303228	NM_025164	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.8|24.8	4.571156|4.571156	0.86542|0.86542	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921;ENST00000413553	T;T;T;T|.	0.68331|.	-0.32;-0.32;-0.32;-0.32|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|0.000000	0.42821|0.42821	U|U	0.000660|0.000660	T|T	0.73063|0.73063	0.3539|0.3539	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.998;1.0|.	D;D;D|.	0.87578|.	0.998;0.995;0.998|.	T|T	0.72250|0.72250	-0.4348|-0.4348	10|6	0.87932|.	D|.	0|.	.|.	16.1667|16.1667	0.81768|0.81768	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	120;19;120|.	A1A5A8;A1A5A9;Q9Y2K2|.	.;.;SIK3_HUMAN|.	C|L	178;120;120;19|171;142;80	ENSP00000364449:F178C;ENSP00000292055:F120C;ENSP00000438108:F120C;ENSP00000415873:F19C|.	ENSP00000292055:F120C|.	F|F	-|-	2|3	0|2	SIK3|SIK3	116303228|116303228	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.143000|7.143000	0.77348|0.77348	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.423	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164	
BACE1	23621	broad.mit.edu	37	11	117160329	117160329	+	Missense_Mutation	SNP	G	G	A	rs138644093		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:117160329G>A	ENST00000313005.6	-	9	1919	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	BACE1_ENST00000528053.1_Missense_Mutation_p.R453C|BACE1_ENST00000428381.2_Missense_Mutation_p.R418C|BACE1_ENST00000445823.2_Missense_Mutation_p.R443C|BACE1_ENST00000513780.1_Missense_Mutation_p.R462C|BACE1_ENST00000510630.1_Missense_Mutation_p.R362C|BACE1_ENST00000392937.6_Missense_Mutation_p.R387C	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	487	Interaction with RTN3.				beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)	p.R487C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TGCTGCTGGCGCAGGCAGCGG	0.577																																					p.R418C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1252T	11						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4402		0,0,2201	101.0	90.0	94.0		1159,1084,1459,1327,1384,1252	5.7	1.0	11	dbSNP_134	94	2,8590	2.2+/-6.3	0,2,4294	yes	missense,missense,missense,missense,missense,missense	BACE1	NM_001207048.1,NM_001207049.1,NM_012104.4,NM_138971.3,NM_138972.3,NM_138973.3	180,180,180,180,180,180	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	387/402,362/377,487/502,443/458,462/477,418/433	117160329	2,12992	2201	4296	6497	116665539	SO:0001583	missense	23621	exon9			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.1459C>T	11.37:g.117160329G>A	ENSP00000318585:p.Arg487Cys		116665539	NM_138973	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380894	0.82792	0.0	2.33E-4	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T;T	0.61980	0.28;0.06;1.81;0.4;0.08;0.14	5.65	5.65	0.86999	.	0.079528	0.53938	D	0.000058	T	0.59238	0.2179	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.995;0.997;0.998;0.996;0.999	P;P;P;P;P;P	0.56700	0.736;0.549;0.642;0.804;0.648;0.804	T	0.64859	-0.6308	10	0.72032	D	0.01	.	13.6667	0.62401	0.0:0.0:0.8457:0.1543	.	387;362;487;443;418;462	F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2	.;.;BACE1_HUMAN;.;.;.	C	487;387;453;362;418;462;443	ENSP00000318585:R487C;ENSP00000431848:R453C;ENSP00000422461:R362C;ENSP00000402228:R418C;ENSP00000424536:R462C;ENSP00000403685:R443C	ENSP00000318585:R487C	R	-	1	0	BACE1	116665539	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.146000	0.71777	2.655000	0.90218	0.655000	0.94253	CGC		0.577	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1		
CD3E	916	broad.mit.edu	37	11	118183553	118183553	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:118183553G>A	ENST00000361763.4	+	6	615	c.324G>A	c.(322-324)gcG>gcA	p.A108A	CD3E_ENST00000528600.1_Silent_p.A102A	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	108	Ig-like.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of smoothened signaling pathway (GO:0045879)|negative thymic T cell selection (GO:0045060)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell anergy (GO:0002669)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)|regulation of immune response (GO:0050776)|response to nutrient (GO:0007584)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)|SH3 domain binding (GO:0017124)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)	p.A108A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	CAGAAGATGCGAACTTTTATC	0.468																																					p.A108A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G324A	11						.						101.0	101.0	101.0					11																	118183553		2200	4296	6496	117688763	SO:0001819	synonymous_variant	916	exon6			X03884	CCDS31685.1	11q23	2014-09-17	2006-03-28		ENSG00000198851	ENSG00000198851		"""CD molecules"""	1674	protein-coding gene	gene with protein product		186830	"""CD3e antigen, epsilon polypeptide (TiT3 complex)"""				Standard	NM_000733		Approved		uc001psq.4	P07766	OTTHUMG00000166968	ENST00000361763.4:c.324G>A	11.37:g.118183553G>A			117688763	NM_000733	A8K997	Silent	SNP	ENST00000361763.4	37	CCDS31685.1																																																																																				0.468	CD3E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392120.1	NM_000733	
CD3D	915	broad.mit.edu	37	11	118209930	118209930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:118209930G>A	ENST00000300692.4	-	5	599	c.463C>T	c.(463-465)Cga>Tga	p.R155*	CD3D_ENST00000529594.1_Nonsense_Mutation_p.R82*|CD3D_ENST00000392884.2_Nonsense_Mutation_p.R111*	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	155	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive thymic T cell selection (GO:0045059)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R155*(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	GCATCATCTCGATCTCGGAGG	0.542																																					p.R155X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C463T	11						.						102.0	92.0	95.0					11																	118209930		2200	4296	6496	117715140	SO:0001587	stop_gained	915	exon5			X01451	CCDS8394.1, CCDS41724.1	11q23	2014-09-17	2006-03-28		ENSG00000167286	ENSG00000167286		"""CD molecules"""	1673	protein-coding gene	gene with protein product		186790	"""CD3d antigen, delta polypeptide (TiT3 complex)"""	T3D			Standard	NM_000732		Approved		uc001pss.1	P04234	OTTHUMG00000166970	ENST00000300692.4:c.463C>T	11.37:g.118209930G>A	ENSP00000300692:p.Arg155*		117715140	NM_000732	A8MVP6	Nonsense_Mutation	SNP	ENST00000300692.4	37	CCDS8394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.166294|4.166294	0.78339|0.78339	.|.	.|.	ENSG00000167286|ENSG00000167286	ENST00000300692;ENST00000529594;ENST00000392884|ENST00000534687	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.065136|.	0.56097|.	D|.	0.000039|.	.|T	.|0.70622	.|0.3245	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68051	.|-0.5511	.|4	0.02654|.	T|.	1|.	-3.6872|-3.6872	14.5479|14.5479	0.68044|0.68044	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	155;82;111|115	.|.	ENSP00000300692:R155X|.	R|S	-|-	1|2	2|0	CD3D|CD3D	117715140|117715140	0.984000|0.984000	0.35163|0.35163	0.137000|0.137000	0.22149|0.22149	0.973000|0.973000	0.67179|0.67179	4.779000|4.779000	0.62375|0.62375	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.542	CD3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392128.1	NM_000732	
CD3G	917	broad.mit.edu	37	11	118220500	118220500	+	Missense_Mutation	SNP	C	C	T	rs201752677		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:118220500C>T	ENST00000532917.1	+	3	190	c.122C>T	c.(121-123)tCg>tTg	p.S41L	CD3G_ENST00000392883.2_5'UTR|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	41	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)	p.S41L(1)		breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	GAAGATGGTTCGGTACTTCTG	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20080	0.0		0.0	False		,,,				2504	0.0				p.S41L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C122T	11						.	C	LEU/SER	2,4398	4.2+/-10.8	0,2,2198	95.0	91.0	92.0		122	5.0	0.9	11		92	0,8592		0,0,4296	no	missense	CD3G	NM_000073.2	145	0,2,6494	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	41/183	118220500	2,12990	2200	4296	6496	117725710	SO:0001583	missense	917	exon3			X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.122C>T	11.37:g.118220500C>T	ENSP00000431445:p.Ser41Leu		117725710	NM_000073	Q2HIZ6	Missense_Mutation	SNP	ENST00000532917.1	37	CCDS8395.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917824	0.52546	4.55E-4	0.0	ENSG00000160654	ENST00000532917	T	0.53640	0.61	5.94	5.03	0.67393	Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	0.581466	0.18710	N	0.133338	T	0.63236	0.2494	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	P	0.56700	0.804	T	0.66822	-0.5826	10	0.59425	D	0.04	.	10.8465	0.46746	0.0:0.9141:0.0:0.0859	.	41	P09693	CD3G_HUMAN	L	41	ENSP00000431445:S41L	ENSP00000431445:S41L	S	+	2	0	CD3G	117725710	0.046000	0.20272	0.870000	0.34147	0.069000	0.16628	0.840000	0.27600	1.527000	0.49086	0.557000	0.71058	TCG		0.393	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392135.1	NM_000073	
UBE4A	9354	broad.mit.edu	37	11	118243292	118243292	+	Missense_Mutation	SNP	G	G	A	rs377525506		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:118243292G>A	ENST00000431736.2	+	6	704	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	UBE4A_ENST00000252108.3_Missense_Mutation_p.R211Q					ubiquitination factor E4A									p.R211Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCAATACCCGAACAGTTCTT	0.463																																					p.R211Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G632A	11						.	G	GLN/ARG,GLN/ARG	0,4400		0,0,2200	133.0	115.0	121.0		632,632	5.2	1.0	11		121	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	UBE4A	NM_001204077.1,NM_004788.3	43,43	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	211/1067,211/1074	118243292	1,12991	2200	4296	6496	117748502	SO:0001583	missense	9354	exon6			D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.632G>A	11.37:g.118243292G>A	ENSP00000387362:p.Arg211Gln		117748502	NM_004788		Missense_Mutation	SNP	ENST00000431736.2	37	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803126	0.50315	0.0	1.16E-4	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.42513	0.97;0.97	6.08	5.16	0.70880	.	0.057395	0.64402	D	0.000001	T	0.26919	0.0659	L	0.29908	0.895	0.80722	D	1	P;P	0.40250	0.661;0.709	B;B	0.30401	0.115;0.107	T	0.05273	-1.0895	10	0.24483	T	0.36	-7.3196	13.0461	0.58925	0.1328:0.0:0.8672:0.0	.	211;211	Q14139;Q14139-2	UBE4A_HUMAN;.	Q	211	ENSP00000252108:R211Q;ENSP00000387362:R211Q	ENSP00000252108:R211Q	R	+	2	0	UBE4A	117748502	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	6.258000	0.72487	1.579000	0.49836	0.655000	0.94253	CGA		0.463	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788	
PHLDB1	23187	broad.mit.edu	37	11	118509956	118509956	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:118509956C>T	ENST00000361417.2	+	13	3134	c.2723C>T	c.(2722-2724)tCg>tTg	p.S908L	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S908L|PHLDB1_ENST00000527898.1_5'UTR|AP002954.3_ENST00000530198.1_RNA|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000524713.1_5'Flank	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	908								p.S908L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AAGACCACATCGACCCTCAAA	0.562																																					p.S908L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2723T	11						.						87.0	73.0	78.0					11																	118509956		2200	4295	6495	118015166	SO:0001583	missense	23187	exon12				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2723C>T	11.37:g.118509956C>T	ENSP00000354498:p.Ser908Leu		118015166	NM_001144758	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378477	0.61735	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.39056	1.1;1.1	4.56	4.56	0.56223	.	0.626869	0.15978	N	0.235448	T	0.42899	0.1223	L	0.48642	1.525	0.80722	D	1	B;P;P;B	0.43578	0.252;0.811;0.777;0.029	B;B;B;B	0.43123	0.032;0.409;0.077;0.011	T	0.42766	-0.9432	10	0.51188	T	0.08	-9.6541	15.5312	0.75964	0.0:1.0:0.0:0.0	.	652;908;908;908	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	L	908;667;272;908	ENSP00000354498:S908L;ENSP00000348359:S908L	ENSP00000348359:S908L	S	+	2	0	PHLDB1	118015166	0.013000	0.17824	0.759000	0.31340	0.878000	0.50629	2.421000	0.44688	2.085000	0.62840	0.561000	0.74099	TCG		0.562	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
DDX6	1656	broad.mit.edu	37	11	118627025	118627025	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:118627025C>T	ENST00000526070.2	-	11	1478	c.1118G>A	c.(1117-1119)cGa>cAa	p.R373Q	DDX6_ENST00000264018.4_Missense_Mutation_p.R373Q|DDX6_ENST00000534980.1_Missense_Mutation_p.R373Q	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	373	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R362Q(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TACACGATTTCGATGTTCCTA	0.378			T	IGH@	B-NHL																																p.R373Q			Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1118A	11						.						72.0	66.0	68.0					11																	118627025		1839	4083	5922	118132235	SO:0001583	missense	1656	exon11			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1118G>A	11.37:g.118627025C>T	ENSP00000433704:p.Arg373Gln		118132235	NM_004397	Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274898	0.95459	.	.	ENSG00000110367	ENST00000264018;ENST00000534980;ENST00000526070	T;T;T	0.81330	-1.48;-1.48;-1.48	5.97	5.06	0.68205	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91226	0.7235	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92979	0.6404	10	0.87932	D	0	.	14.8028	0.69929	0.0:0.9305:0.0:0.0695	.	373	P26196	DDX6_HUMAN	Q	373	ENSP00000264018:R373Q;ENSP00000442266:R373Q;ENSP00000433704:R373Q	ENSP00000264018:R373Q	R	-	2	0	DDX6	118132235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	1.543000	0.49345	0.591000	0.81541	CGA		0.378	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	
ABCG4	64137	broad.mit.edu	37	11	119027602	119027602	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:119027602G>A	ENST00000449422.2	+	9	1134	c.946G>A	c.(946-948)Gag>Aag	p.E316K	AP002956.1_ENST00000599663.1_Silent_p.L12L|ABCG4_ENST00000531739.1_Missense_Mutation_p.E316K|ABCG4_ENST00000307417.3_Missense_Mutation_p.E316K	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	316					cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E316K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCCTCTGGCGAGTATGGAGA	0.572																																					p.E316K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G946A	11						.						163.0	154.0	157.0					11																	119027602		2200	4295	6495	118532812	SO:0001583	missense	64137	exon9			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.946G>A	11.37:g.119027602G>A	ENSP00000406874:p.Glu316Lys		118532812	NM_001142505	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	36	5.819840	0.96982	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.50548	0.74;0.74;0.74	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66571	-0.5890	10	0.59425	D	0.04	-29.0886	19.7135	0.96105	0.0:0.0:1.0:0.0	.	316	Q9H172	ABCG4_HUMAN	K	316	ENSP00000304111:E316K;ENSP00000406874:E316K;ENSP00000434318:E316K	ENSP00000304111:E316K	E	+	1	0	ABCG4	118532812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.422000	0.97458	2.648000	0.89879	0.655000	0.94253	GAG		0.572	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169	
USP2	9099	broad.mit.edu	37	11	119243904	119243904	+	Missense_Mutation	SNP	G	G	A	rs536224379	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:119243904G>A	ENST00000260187.2	-	2	581	c.287C>T	c.(286-288)aCc>aTc	p.T96I	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	96	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T96I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGTACCCCGGGTCTGGCTCTC	0.652																																					p.T96I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C287T	11						.						70.0	79.0	76.0					11																	119243904		2199	4295	6494	118749114	SO:0001583	missense	9099	exon2			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.287C>T	11.37:g.119243904G>A	ENSP00000260187:p.Thr96Ile		118749114	NM_004205	B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757524	0.31137	.	.	ENSG00000036672	ENST00000260187;ENST00000530918;ENST00000531070;ENST00000527843	T	0.19105	2.17	5.22	4.25	0.50352	.	1.649860	0.03134	N	0.165674	T	0.20170	0.0485	N	0.14661	0.345	0.80722	D	1	P	0.38195	0.622	B	0.38803	0.282	T	0.13710	-1.0499	10	0.66056	D	0.02	-6.2642	14.8718	0.70462	0.0:0.1569:0.8431:0.0	.	96	O75604	UBP2_HUMAN	I	96;66;96;96	ENSP00000260187:T96I	ENSP00000260187:T96I	T	-	2	0	USP2	118749114	0.995000	0.38212	0.982000	0.44146	0.716000	0.41182	2.722000	0.47269	2.426000	0.82243	0.561000	0.74099	ACC		0.652	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997	
ARHGEF12	23365	broad.mit.edu	37	11	120329939	120329939	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:120329939T>C	ENST00000397843.2	+	26	2603	c.2437T>C	c.(2437-2439)Ttc>Ctc	p.F813L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F794L|AP000758.1_ENST00000595283.1_Missense_Mutation_p.T37A|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F710L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	813	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F813L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGATCAAGTGTTCTATCAGCG	0.368			T	MLL	AML																																p.F794L			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2380C	11						.						131.0	126.0	127.0					11																	120329939		1844	4103	5947	119835149	SO:0001583	missense	23365	exon25			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2437T>C	11.37:g.120329939T>C	ENSP00000380942:p.Phe813Leu		119835149	NM_001198665	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	35	5.515350	0.96402	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.72394	-0.65;-0.65;-0.65	5.62	5.62	0.85841	Dbl homology (DH) domain (5);	0.000000	0.49305	D	0.000142	D	0.88880	0.6557	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.92182	0.5752	10	0.87932	D	0	-12.6169	15.8388	0.78824	0.0:0.0:0.0:1.0	.	710;794;813	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	813;794;710	ENSP00000380942:F813L;ENSP00000349056:F794L;ENSP00000432984:F710L	ENSP00000349056:F794L	F	+	1	0	ARHGEF12	119835149	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.662000	0.83803	2.129000	0.65627	0.533000	0.62120	TTC		0.368	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
GRIK4	2900	broad.mit.edu	37	11	120702686	120702686	+	Missense_Mutation	SNP	G	G	A	rs529944106		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:120702686G>A	ENST00000527524.2	+	7	924	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	GRIK4_ENST00000438375.2_Missense_Mutation_p.A213T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	213					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.A213T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CGACAAGACCGCCACCATCAT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		12619	0.0		0.0	False		,,,				2504	0.001				p.A213T												.	.	2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.G637A	11						.						130.0	112.0	118.0					11																	120702686		2203	4299	6502	120207896	SO:0001583	missense	2900	exon5			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.637G>A	11.37:g.120702686G>A	ENSP00000435648:p.Ala213Thr		120207896	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441979	0.63067	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.21361	2.01;2.01	4.57	4.57	0.56435	Extracellular ligand-binding receptor (1);	0.161422	0.56097	D	0.000035	T	0.16085	0.0387	N	0.25144	0.715	0.54753	D	0.999989	P;P	0.44776	0.746;0.843	P;B	0.44811	0.461;0.36	T	0.03433	-1.1037	10	0.21540	T	0.41	.	11.0896	0.48108	0.0844:0.0:0.9156:0.0	.	213;213	A6H8K8;Q16099	.;GRIK4_HUMAN	T	213	ENSP00000435648:A213T;ENSP00000404063:A213T	ENSP00000404063:A213T	A	+	1	0	GRIK4	120207896	1.000000	0.71417	0.960000	0.40013	0.942000	0.58702	4.296000	0.59055	2.360000	0.80028	0.561000	0.74099	GCC		0.642	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
GRIK4	2900	broad.mit.edu	37	11	120745855	120745855	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:120745855T>C	ENST00000527524.2	+	11	1354	c.1067T>C	c.(1066-1068)tTg>tCg	p.L356S	GRIK4_ENST00000438375.2_Missense_Mutation_p.L356S|RP11-640N11.2_ENST00000505153.2_RNA	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	356					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L356S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CAGGTAGAATTGGAAGGTCTT	0.473																																					p.L356S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1067C	11						.						111.0	97.0	102.0					11																	120745855		2203	4299	6502	120251065	SO:0001583	missense	2900	exon9			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1067T>C	11.37:g.120745855T>C	ENSP00000435648:p.Leu356Ser		120251065	NM_014619	A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	t	14.85	2.657522	0.47467	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.83075	-1.68;-1.68	5.92	4.76	0.60689	Extracellular ligand-binding receptor (1);	0.199942	0.44688	D	0.000424	T	0.80138	0.4568	L	0.47716	1.5	0.40219	D	0.977712	B;B	0.23806	0.091;0.053	B;B	0.33121	0.158;0.158	T	0.74968	-0.3483	10	0.34782	T	0.22	.	13.1083	0.59259	0.0:0.0:0.1338:0.8662	.	356;356	A6H8K8;Q16099	.;GRIK4_HUMAN	S	356	ENSP00000435648:L356S;ENSP00000404063:L356S	ENSP00000404063:L356S	L	+	2	0	GRIK4	120251065	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.517000	0.53443	1.007000	0.39238	0.529000	0.55759	TTG		0.473	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619	
TECTA	7007	broad.mit.edu	37	11	120980006	120980006	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:120980006C>T	ENST00000392793.1	+	4	556	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TECTA_ENST00000264037.2_Silent_p.F95F			O75443	TECTA_HUMAN	tectorin alpha	95					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.F95F(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGAGCCTTCGTCGCCCCAT	0.488																																					p.F95F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C285T	11						.						95.0	86.0	89.0					11																	120980006		2203	4299	6502	120485216	SO:0001819	synonymous_variant	7007	exon3			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.285C>T	11.37:g.120980006C>T			120485216	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.488	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	broad.mit.edu	37	11	120998648	120998648	+	Silent	SNP	C	C	T	rs143808255	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:120998648C>T	ENST00000392793.1	+	9	2233	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	TECTA_ENST00000264037.2_Silent_p.F654F			O75443	TECTA_HUMAN	tectorin alpha	654					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.F654F(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCTGCGACTTCGACGGCCACT	0.637																																					p.F654F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1962T	11						.	C		6,4400	11.4+/-27.6	0,6,2197	73.0	63.0	66.0		1962	1.0	1.0	11	dbSNP_134	66	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TECTA	NM_005422.2		0,7,6495	TT,TC,CC		0.0116,0.1362,0.0538		654/2156	120998648	7,12997	2203	4299	6502	120503858	SO:0001819	synonymous_variant	7007	exon8			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1962C>T	11.37:g.120998648C>T			120503858	NM_005422		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																				0.637	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
TECTA	7007	broad.mit.edu	37	11	121037437	121037437	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:121037437T>C	ENST00000392793.1	+	18	5805	c.5534T>C	c.(5533-5535)tTt>tCt	p.F1845S	TECTA_ENST00000264037.2_Missense_Mutation_p.F1845S			O75443	TECTA_HUMAN	tectorin alpha	1845	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.F1845S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGAAGATTTTATCTCCTTT	0.502																																					p.F1845S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5534C	11						.						116.0	108.0	110.0					11																	121037437		2203	4299	6502	120542647	SO:0001583	missense	7007	exon17			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5534T>C	11.37:g.121037437T>C	ENSP00000376543:p.Phe1845Ser		120542647	NM_005422		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438185	0.83885	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.81499	-1.5;-1.5	6.05	6.05	0.98169	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.87103	0.6094	L	0.55213	1.73	0.58432	D	0.999996	D	0.76494	0.999	D	0.87578	0.998	D	0.84799	0.0783	10	0.27785	T	0.31	.	16.5993	0.84807	0.0:0.0:0.0:1.0	.	1845	O75443	TECTA_HUMAN	S	1845	ENSP00000376543:F1845S;ENSP00000264037:F1845S	ENSP00000264037:F1845S	F	+	2	0	TECTA	120542647	1.000000	0.71417	0.982000	0.44146	0.971000	0.66376	7.662000	0.83803	2.311000	0.77944	0.528000	0.53228	TTT		0.502	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
SC5D	6309	broad.mit.edu	37	11	121178026	121178026	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:121178026C>A	ENST00000392789.2	+	5	942	c.705C>A	c.(703-705)ttC>ttA	p.F235L	SC5D_ENST00000264027.4_Missense_Mutation_p.F235L|SC5D_ENST00000534230.1_Intron	NM_001024956.2	NP_001020127.1	O75845	SC5D_HUMAN	sterol-C5-desaturase	235				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970). {ECO:0000305}.	cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via lathosterol (GO:0033490)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	C-5 sterol desaturase activity (GO:0000248)|iron ion binding (GO:0005506)|lathosterol oxidase activity (GO:0050046)										ACCATATGTTCTTTGACTATA	0.408																																					p.F235L												.	.	0			c.C705A	11						.						140.0	140.0	140.0					11																	121178026		2203	4299	6502	120683236	SO:0001583	missense	6309	exon5				CCDS8435.1	11q23.3	2013-03-04	2013-03-04	2013-03-04	ENSG00000109929	ENSG00000109929	1.14.21.6	"""Fatty acid hydroxylase domain containing"""	10547	protein-coding gene	gene with protein product	"""lathosterol oxidase"""	602286	"""sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, fungal)-like"", ""sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like"""	SC5DL		8976377	Standard	NM_006918		Approved		uc001pxu.3	O75845	OTTHUMG00000166068	ENST00000392789.2:c.705C>A	11.37:g.121178026C>A	ENSP00000376539:p.Phe235Leu		120683236	NM_006918	O00119|Q6GTM5|Q9UK15	Missense_Mutation	SNP	ENST00000392789.2	37	CCDS8435.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324826	0.60634	.	.	ENSG00000109929	ENST00000264027;ENST00000392789	D;D	0.82081	-1.57;-1.57	5.88	2.98	0.34508	.	0.187898	0.64402	N	0.000020	T	0.75148	0.3810	L	0.47716	1.5	0.48288	D	0.999626	B	0.02656	0.0	B	0.04013	0.001	T	0.66818	-0.5827	10	0.22706	T	0.39	-18.3424	11.0779	0.48043	0.0:0.7899:0.0:0.2101	.	235	O75845	SC5D_HUMAN	L	235	ENSP00000264027:F235L;ENSP00000376539:F235L	ENSP00000264027:F235L	F	+	3	2	SC5DL	120683236	1.000000	0.71417	0.978000	0.43139	0.923000	0.55619	1.665000	0.37449	0.829000	0.34733	0.561000	0.74099	TTC		0.408	SC5D-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387702.1	NM_001024956	
MICALCL	84953	broad.mit.edu	37	11	12316188	12316188	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:12316188G>T	ENST00000256186.2	+	3	1501	c.1210G>T	c.(1210-1212)Gac>Tac	p.D404Y		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	404					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.D404Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CAGACTCAAAGACAAATCTTT	0.468																																					p.D404Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1210T	11						.						121.0	123.0	123.0					11																	12316188		1851	4097	5948	12272764	SO:0001583	missense	84953	exon3			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1210G>T	11.37:g.12316188G>T	ENSP00000256186:p.Asp404Tyr		12272764	NM_032867	Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821496	0.71028	.	.	ENSG00000133808	ENST00000256186	T	0.11604	2.76	5.7	5.7	0.88788	.	0.309988	0.23620	N	0.046245	T	0.31734	0.0806	M	0.66939	2.045	0.39786	D	0.972375	D	0.89917	1.0	D	0.73380	0.98	T	0.01500	-1.1339	10	0.72032	D	0.01	.	15.3286	0.74186	0.0:0.0:1.0:0.0	.	404	Q6ZW33	MICLK_HUMAN	Y	404	ENSP00000256186:D404Y	ENSP00000256186:D404Y	D	+	1	0	MICALCL	12272764	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	3.706000	0.54830	2.687000	0.91594	0.460000	0.39030	GAC		0.468	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867	
CRTAM	56253	broad.mit.edu	37	11	122724707	122724707	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:122724707G>T	ENST00000227348.4	+	4	450	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule									p.E135*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAATGGAGAAGAACATGTTGT	0.438																																					p.E135X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G403T	11						.						109.0	104.0	106.0					11																	122724707		2202	4299	6501	122229917	SO:0001587	stop_gained	56253	exon4			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.403G>T	11.37:g.122724707G>T	ENSP00000227348:p.Glu135*		122229917	NM_019604		Nonsense_Mutation	SNP	ENST00000227348.4	37	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410622	0.42715	.	.	ENSG00000109943	ENST00000227348	.	.	.	5.44	2.35	0.29111	.	0.438770	0.23058	N	0.052411	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	2.3394	0.04256	0.1687:0.1861:0.4988:0.1465	.	.	.	.	X	135	.	ENSP00000227348:E135X	E	+	1	0	CRTAM	122229917	0.949000	0.32298	0.001000	0.08648	0.041000	0.13682	0.902000	0.28459	0.170000	0.19704	0.655000	0.94253	GAA		0.438	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604	
GRAMD1B	57476	broad.mit.edu	37	11	123477453	123477453	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:123477453A>G	ENST00000529750.1	+	10	1358	c.1031A>G	c.(1030-1032)gAc>gGc	p.D344G	GRAMD1B_ENST00000456860.2_Missense_Mutation_p.D351G|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.D344G|GRAMD1B_ENST00000450171.2_5'Flank	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	344						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D344G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GACTTCAATGACAATGAGGAC	0.517																																					p.D344G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1031G	11						.						68.0	69.0	69.0					11																	123477453		2000	4165	6165	122982663	SO:0001583	missense	57476	exon10			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1031A>G	11.37:g.123477453A>G	ENSP00000436500:p.Asp344Gly		122982663	NM_020716	Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.689799	0.68271	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.31769	1.89;1.88;1.88;1.89;1.48	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.51422	1.61	0.80722	D	1	B;P;D;P	0.53151	0.093;0.745;0.958;0.629	B;P;B;B	0.49708	0.05;0.62;0.444;0.416	T	0.07102	-1.0790	10	0.22706	T	0.39	.	15.1565	0.72746	1.0:0.0:0.0:0.0	.	304;351;344;351	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	G	351;351;344;344;304;340	ENSP00000402457:D351G;ENSP00000325628:D344G;ENSP00000436500:D344G;ENSP00000432987:D304G;ENSP00000434214:D340G	ENSP00000325628:D344G	D	+	2	0	GRAMD1B	122982663	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.231000	0.78106	1.974000	0.57490	0.379000	0.24179	GAC		0.517	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660	
OR6X1	390260	broad.mit.edu	37	11	123624366	123624366	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:123624366A>C	ENST00000327930.2	-	1	887	c.861T>G	c.(859-861)atT>atG	p.I287M		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I287M(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAATAGTATAAATAAAGGGAT	0.413																																					p.I287M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T861G	11						.						87.0	97.0	94.0					11																	123624366		2202	4299	6501	123129576	SO:0001583	missense	390260	exon1			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.861T>G	11.37:g.123624366A>C	ENSP00000333724:p.Ile287Met		123129576	NM_001005188	B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.391085	0.42410	.	.	ENSG00000221931	ENST00000327930	T	0.57273	0.41	3.96	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.70640	0.3247	M	0.84156	2.68	0.32040	N	0.598357	D	0.89917	1.0	D	0.87578	0.998	T	0.73148	-0.4074	9	0.87932	D	0	-13.7393	7.7887	0.29108	0.8134:0.0:0.0:0.1866	.	287	Q8NH79	OR6X1_HUMAN	M	287	ENSP00000333724:I287M	ENSP00000333724:I287M	I	-	3	3	OR6X1	123129576	0.995000	0.38212	0.264000	0.24511	0.946000	0.59487	0.426000	0.21363	0.577000	0.29470	0.528000	0.53228	ATT		0.413	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188	
OR6T1	219874	broad.mit.edu	37	11	123813682	123813682	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:123813682G>A	ENST00000321252.2	-	1	898	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F288F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGTGAAGATGAATGGGTTCA	0.517																																					p.F288F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864T	11						.						261.0	227.0	238.0					11																	123813682		2202	4299	6501	123318892	SO:0001819	synonymous_variant	219874	exon1			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.864C>T	11.37:g.123813682G>A			123318892	NM_001005187	Q6IFE7	Silent	SNP	ENST00000321252.2	37	CCDS31700.1																																																																																				0.517	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187	
OR6T1	219874	broad.mit.edu	37	11	123814297	123814297	+	Silent	SNP	G	G	A	rs371540555		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:123814297G>A	ENST00000321252.2	-	1	283	c.249C>T	c.(247-249)gtC>gtT	p.V83V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V83V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGAGGATGACGACAAGCATCT	0.507																																					p.V83V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249T	11						.	G		2,4402	4.2+/-10.8	0,2,2200	123.0	103.0	110.0		249	-0.4	0.0	11		110	1,8597		0,1,4298	no	coding-synonymous	OR6T1	NM_001005187.1		0,3,6498	AA,AG,GG		0.0116,0.0454,0.0231		83/324	123814297	3,12999	2202	4299	6501	123319507	SO:0001819	synonymous_variant	219874	exon1			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.249C>T	11.37:g.123814297G>A			123319507	NM_001005187	Q6IFE7	Silent	SNP	ENST00000321252.2	37	CCDS31700.1																																																																																				0.507	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187	
OR10S1	219873	broad.mit.edu	37	11	123847796	123847796	+	Silent	SNP	G	G	A	rs146184652		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:123847796G>A	ENST00000531945.1	-	1	692	c.603C>T	c.(601-603)ctC>ctT	p.L201L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L201L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGTACAGGCGAGCTTTAGGA	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		23129	0.0		0.001	False		,,,				2504	0.0				p.L201L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	11						.	G		0,4404		0,0,2202	82.0	68.0	73.0		603	1.0	1.0	11	dbSNP_134	73	5,8593	4.3+/-15.6	0,5,4294	no	coding-synonymous	OR10S1	NM_001004474.1		0,5,6496	AA,AG,GG		0.0582,0.0,0.0385		201/332	123847796	5,12997	2202	4299	6501	123353006	SO:0001819	synonymous_variant	219873	exon1			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.603C>T	11.37:g.123847796G>A			123353006	NM_001004474	B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	CCDS31701.1																																																																																				0.542	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
OR10G4	390264	broad.mit.edu	37	11	123886379	123886379	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:123886379A>G	ENST00000320891.4	+	1	98	c.98A>G	c.(97-99)tAc>tGc	p.Y33C		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y33C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGGTGGTTTACGTGCTCACT	0.572																																					p.Y33C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A98G	11						.						135.0	93.0	107.0					11																	123886379		2202	4296	6498	123391589	SO:0001583	missense	390264	exon1			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.98A>G	11.37:g.123886379A>G	ENSP00000325076:p.Tyr33Cys		123391589	NM_001004462	Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	a	18.48	3.632452	0.67015	.	.	ENSG00000254737	ENST00000320891	T	0.04706	3.57	3.49	3.49	0.39957	.	0.000000	0.44285	D	0.000462	T	0.26011	0.0634	M	0.91249	3.19	0.44899	D	0.997915	D	0.89917	1.0	D	0.91635	0.999	T	0.15464	-1.0436	10	0.87932	D	0	.	12.1548	0.54070	1.0:0.0:0.0:0.0	.	33	Q8NGN3	O10G4_HUMAN	C	33	ENSP00000325076:Y33C	ENSP00000325076:Y33C	Y	+	2	0	OR10G4	123391589	0.997000	0.39634	0.066000	0.19879	0.194000	0.23727	3.785000	0.55424	1.599000	0.50093	0.477000	0.44152	TAC		0.572	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462	
CCDC15	80071	broad.mit.edu	37	11	124857226	124857226	+	Silent	SNP	G	G	A	rs557493879		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:124857226G>A	ENST00000344762.5	+	8	1363	c.1104G>A	c.(1102-1104)caG>caA	p.Q368Q	CCDC15_ENST00000529051.1_Silent_p.Q368Q	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	368						centrosome (GO:0005813)		p.Q368Q(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGAAGGTTCAGGTTACTGAGC	0.473													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17248	0.0		0.0	False		,,,				2504	0.0				p.Q368Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1104A	11						.						122.0	118.0	119.0					11																	124857226		1855	4103	5958	124362436	SO:0001819	synonymous_variant	80071	exon8			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1104G>A	11.37:g.124857226G>A			124362436	NM_025004	Q9H8U7	Silent	SNP	ENST00000344762.5	37	CCDS44756.1																																																																																				0.473	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004	
FEZ1	9638	broad.mit.edu	37	11	125318413	125318413	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:125318413C>T	ENST00000278919.3	-	9	1381	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	383					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.D383N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		AAAATGTAGTCCGTTAGCAAA	0.502																																					p.D383N	Melanoma(180;509 2033 10762 15939 24711)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1147A	11						.						117.0	112.0	114.0					11																	125318413		2201	4299	6500	124823623	SO:0001583	missense	9638	exon9			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.1147G>A	11.37:g.125318413C>T	ENSP00000278919:p.Asp383Asn		124823623	NM_005103	O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310963	0.95629	.	.	ENSG00000149557	ENST00000278919	T	0.03212	4.01	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.16938	0.0407	M	0.63843	1.955	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.00026	-1.2311	10	0.49607	T	0.09	-16.0512	18.7088	0.91648	0.0:1.0:0.0:0.0	.	383	Q99689	FEZ1_HUMAN	N	383	ENSP00000278919:D383N	ENSP00000278919:D383N	D	-	1	0	FEZ1	124823623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.063000	0.76714	2.711000	0.92665	0.655000	0.94253	GAC		0.502	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103	
FEZ1	9638	broad.mit.edu	37	11	125330551	125330551	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:125330551C>A	ENST00000278919.3	-	5	744	c.510G>T	c.(508-510)gaG>gaT	p.E170D	FEZ1_ENST00000527350.1_Intron	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	170					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)		p.E170D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TTTCCTCAATCTCCTCAATTA	0.483																																					p.E170D	Melanoma(180;509 2033 10762 15939 24711)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G510T	11						.						143.0	132.0	136.0					11																	125330551		2201	4299	6500	124835761	SO:0001583	missense	9638	exon5			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.510G>T	11.37:g.125330551C>A	ENSP00000278919:p.Glu170Asp		124835761	NM_005103	O00679|O00728|Q6IBI7	Missense_Mutation	SNP	ENST00000278919.3	37	CCDS31716.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744658	0.69418	.	.	ENSG00000149557	ENST00000278919	T	0.53640	0.61	5.4	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.992	T	0.67749	-0.5590	10	0.72032	D	0.01	-12.899	8.5583	0.33494	0.0:0.6965:0.0:0.3035	.	141;170	B4DKG5;Q99689	.;FEZ1_HUMAN	D	170	ENSP00000278919:E170D	ENSP00000278919:E170D	E	-	3	2	FEZ1	124835761	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.933000	0.28897	0.644000	0.30656	-0.258000	0.10820	GAG		0.483	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386875.1	NM_005103	
STT3A	3703	broad.mit.edu	37	11	125475577	125475577	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:125475577A>C	ENST00000529196.1	+	8	768	c.562A>C	c.(562-564)Aag>Cag	p.K188Q	STT3A_ENST00000392708.4_Missense_Mutation_p.K188Q|STT3A_ENST00000531491.1_Missense_Mutation_p.K96Q			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	188					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CAAGGCAGTAAAGACTGGTTC	0.403																																					p.K188Q												.	.	0			c.A562C	11						.						271.0	233.0	246.0					11																	125475577		2201	4299	6500	124980787	SO:0001583	missense	3703	exon7			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.562A>C	11.37:g.125475577A>C	ENSP00000436962:p.Lys188Gln		124980787	NM_152713	B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.976326	0.92982	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	H	0.94771	3.58	0.80722	D	1	D;D	0.63880	0.993;0.987	D;D	0.66497	0.944;0.944	D	0.89993	0.4109	9	0.87932	D	0	-15.3729	15.6241	0.76840	1.0:0.0:0.0:0.0	.	96;188	E9PNQ1;P46977	.;STT3A_HUMAN	Q	188;188;96	.	ENSP00000376472:K188Q	K	+	1	0	STT3A	124980787	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.144000	0.94629	2.225000	0.72522	0.533000	0.62120	AAG		0.403	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713	
CDON	50937	broad.mit.edu	37	11	125853858	125853858	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:125853858G>A	ENST00000392693.3	-	16	3031	c.2904C>T	c.(2902-2904)atC>atT	p.I968I	CDON_ENST00000263577.7_Silent_p.I968I|CDON_ENST00000531738.1_Silent_p.I345I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	968					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I968I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CACAGCCAACGATCAGATATA	0.488																																					p.I968I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2904T	11						.						90.0	79.0	83.0					11																	125853858		2201	4299	6500	125359068	SO:0001819	synonymous_variant	50937	exon16			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2904C>T	11.37:g.125853858G>A			125359068	NM_016952	O14631	Silent	SNP	ENST00000392693.3	37	CCDS58192.1																																																																																				0.488	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
CDON	50937	broad.mit.edu	37	11	125864894	125864894	+	Missense_Mutation	SNP	G	G	A	rs141611214	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:125864894G>A	ENST00000392693.3	-	13	2543	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	CDON_ENST00000263577.7_Missense_Mutation_p.R806W|CDON_ENST00000531738.1_Missense_Mutation_p.R183W	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	806	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R806W(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GCTGAACTCCGAAAACTCTCA	0.418																																					p.R806W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2416T	11						.	G	TRP/ARG	0,4402		0,0,2201	88.0	88.0	88.0		2416	5.1	1.0	11	dbSNP_134	88	1,8597	1.2+/-3.3	0,1,4298	no	missense	CDON	NM_016952.4	101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	806/1265	125864894	1,12999	2201	4299	6500	125370104	SO:0001583	missense	50937	exon13			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2416C>T	11.37:g.125864894G>A	ENSP00000376458:p.Arg806Trp		125370104	NM_016952	O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989393	0.53934	0.0	1.16E-4	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.52983	0.64;0.64;0.64	6.04	5.14	0.70334	Fibronectin, type III (3);	0.000000	0.45867	D	0.000340	T	0.58921	0.2156	L	0.33245	0.995	0.44469	D	0.997405	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.993	T	0.58255	-0.7668	10	0.37606	T	0.19	-22.5924	16.9664	0.86287	0.0:0.0:0.8711:0.1289	.	806;806;183	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	W	806;183;806	ENSP00000376458:R806W;ENSP00000432901:R183W;ENSP00000263577:R806W	ENSP00000263577:R806W	R	-	1	2	CDON	125370104	1.000000	0.71417	0.997000	0.53966	0.012000	0.07955	6.199000	0.72112	1.584000	0.49913	-0.217000	0.12591	CGG		0.418	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2	NM_016952	
FLI1	2313	broad.mit.edu	37	11	128642753	128642753	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:128642753C>T	ENST00000527786.2	+	4	951	c.462C>T	c.(460-462)atC>atT	p.I154I	FLI1_ENST00000281428.8_Silent_p.I88I|FLI1_ENST00000534087.2_Silent_p.I121I|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000344954.6_Silent_p.I121I	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	154	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I154I(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TGATGGAGATCGACACATCCT	0.517			T	EWSR1	Ewing sarcoma																																p.I121I			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C363T	11						.						212.0	218.0	216.0					11																	128642753		2119	4240	6359	128147963	SO:0001819	synonymous_variant	2313	exon4			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.462C>T	11.37:g.128642753C>T			128147963	NM_001167681	B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Silent	SNP	ENST00000527786.2	37	CCDS44768.1																																																																																				0.517	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017	
ARNTL	406	broad.mit.edu	37	11	13375965	13375965	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:13375965G>A	ENST00000403290.1	+	5	465	c.110G>A	c.(109-111)cGc>cAc	p.R37H	ARNTL_ENST00000389708.3_Missense_Mutation_p.R37H|ARNTL_ENST00000396441.3_Missense_Mutation_p.R37H|ARNTL_ENST00000403510.3_5'UTR|ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000389707.4_Missense_Mutation_p.R37H|ARNTL_ENST00000401424.1_5'UTR|RN7SKP151_ENST00000410230.1_RNA|ARNTL_ENST00000361003.4_Missense_Mutation_p.R37H			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	37					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R37H(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GATTGCAACCGCAAACGGAAA	0.517																																					p.R37H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G110A	11						.						83.0	70.0	75.0					11																	13375965		2200	4294	6494	13332541	SO:0001583	missense	406	exon4			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.110G>A	11.37:g.13375965G>A	ENSP00000384517:p.Arg37His		13332541	NM_001030272	A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	ENST00000403290.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.680226	0.96774	.	.	ENSG00000133794	ENST00000534544;ENST00000527998;ENST00000396441;ENST00000533520;ENST00000389707;ENST00000529388;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000531665	T;T;T;T;T;T	0.48201	2.98;2.98;0.82;2.99;2.66;2.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	N	0.20986	0.625	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.62014	0.791;0.897	T	0.45977	-0.9224	9	.	.	.	.	17.6407	0.88135	0.0:0.0:1.0:0.0	.	37;37	O00327;O00327-8	BMAL1_HUMAN;.	H	37	ENSP00000379718:R37H;ENSP00000374357:R37H;ENSP00000433571:R37H;ENSP00000384517:R37H;ENSP00000354278:R37H;ENSP00000374358:R37H	.	R	+	2	0	ARNTL	13332541	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.528000	0.90598	2.709000	0.92574	0.655000	0.94253	CGC		0.517	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178	
ARHGAP32	9743	broad.mit.edu	37	11	128842602	128842602	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:128842602C>T	ENST00000310343.9	-	21	3756	c.3757G>A	c.(3757-3759)Gaa>Aaa	p.E1253K	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E904K|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E904K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1253					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.E1253K(2)|p.E904K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTATTCTCTTCGGGGGACCCA	0.483																																					p.E904K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2710A	11						.						101.0	105.0	104.0					11																	128842602		2201	4297	6498	128347812	SO:0001583	missense	9743	exon12			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3757G>A	11.37:g.128842602C>T	ENSP00000310561:p.Glu1253Lys		128347812	NM_014715	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060806	0.76074	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.09163	3.02;3.01;3.01	5.71	5.71	0.89125	.	0.308092	0.28077	N	0.016682	T	0.12689	0.0308	M	0.63428	1.95	0.35537	D	0.80273	P	0.48640	0.913	B	0.34038	0.174	T	0.23940	-1.0174	10	0.36615	T	0.2	.	18.0404	0.89317	0.0:1.0:0.0:0.0	.	1253	A7KAX9	RHG32_HUMAN	K	1253;904;904	ENSP00000310561:E1253K;ENSP00000376425:E904K;ENSP00000432862:E904K	ENSP00000310561:E1253K	E	-	1	0	ARHGAP32	128347812	0.990000	0.36364	0.996000	0.52242	0.991000	0.79684	3.103000	0.50298	2.710000	0.92621	0.655000	0.94253	GAA		0.483	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
JAM3	83700	broad.mit.edu	37	11	134014169	134014169	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:134014169A>G	ENST00000299106.4	+	4	449	c.290A>G	c.(289-291)aAg>aGg	p.K97R	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Missense_Mutation_p.K142R|JAM3_ENST00000441717.3_Intron			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	97	Ig-like V-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)	p.K142R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		ATACTGGGGAAGACATCCCTG	0.468																																					p.K142R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A425G	11						.						141.0	125.0	130.0					11																	134014169		2201	4297	6498	133519379	SO:0001583	missense	83700	exon4			AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.290A>G	11.37:g.134014169A>G	ENSP00000299106:p.Lys97Arg		133519379	NM_032801	B3KWG9|Q8WWL8|Q96FL1	Missense_Mutation	SNP	ENST00000299106.4	37	CCDS8494.2	.	.	.	.	.	.	.	.	.	.	A	10.61	1.397408	0.25205	.	.	ENSG00000166086	ENST00000299106	.	.	.	5.36	4.24	0.50183	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.541410	0.19154	N	0.121375	T	0.28764	0.0713	L	0.31294	0.92	0.23994	N	0.996236	B	0.11235	0.004	B	0.16289	0.015	T	0.19844	-1.0293	9	0.51188	T	0.08	.	5.932	0.19144	0.7546:0.0:0.2454:0.0	.	97	Q9BX67	JAM3_HUMAN	R	142	.	ENSP00000299106:K142R	K	+	2	0	JAM3	133519379	0.989000	0.36119	0.498000	0.27564	0.630000	0.37929	2.771000	0.47670	0.904000	0.36572	0.459000	0.35465	AAG		0.468	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393303.4	NM_032801	
NCAPD3	23310	broad.mit.edu	37	11	134038946	134038946	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:134038946G>A	ENST00000534548.2	-	25	3169	c.3105C>T	c.(3103-3105)ttC>ttT	p.F1035F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1035					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)	p.F1035F(1)		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)		AAAACTCCCCGAAGCTGCAAA	0.443																																					p.F1035F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3105T	11						.						55.0	53.0	54.0					11																	134038946		2201	4297	6498	133544156	SO:0001819	synonymous_variant	23310	exon25			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.3105C>T	11.37:g.134038946G>A			133544156	NM_015261	A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	CCDS31723.1																																																																																				0.443	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	
ZNF195	7748	broad.mit.edu	37	11	3381034	3381034	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:3381034T>C	ENST00000399602.4	-	6	1330	c.1204A>G	c.(1204-1206)Aga>Gga	p.R402G	ZNF195_ENST00000354599.6_Missense_Mutation_p.R330G|ZNF195_ENST00000005082.9_Missense_Mutation_p.R379G|ZNF195_ENST00000343338.7_Missense_Mutation_p.R334G|ZNF195_ENST00000526601.1_Missense_Mutation_p.R383G|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.R334G	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	402				Missing (in Ref. 2; BAD18466). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R330G(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATCTCATTTCTCTGGTGTTTG	0.408																																					p.R330G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A988G	11						.						134.0	130.0	131.0					11																	3381034		1984	4185	6169	3337610	SO:0001583	missense	7748	exon4				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1204A>G	11.37:g.3381034T>C	ENSP00000382511:p.Arg402Gly		3337610	NM_007152	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	t	14.53	2.562131	0.45590	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17	1.27	1.27	0.21489	.	.	.	.	.	T	0.27313	0.0670	M	0.83774	2.66	0.27554	N	0.950394	P;D;B;D;B;D	0.63046	0.569;0.992;0.003;0.99;0.001;0.99	B;B;B;B;B;B	0.44278	0.401;0.445;0.001;0.317;0.002;0.317	T	0.19321	-1.0309	9	0.49607	T	0.09	.	6.268	0.20939	0.0:0.0:0.0:1.0	.	383;261;379;334;402;330	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	G	330;402;334;334;379;383	ENSP00000346613:R330G;ENSP00000382511:R402G;ENSP00000344483:R334G;ENSP00000387998:R334G;ENSP00000005082:R379G;ENSP00000435828:R383G	ENSP00000005082:R379G	R	-	1	2	ZNF195	3337610	0.000000	0.05858	0.014000	0.15608	0.257000	0.26127	0.319000	0.19522	0.535000	0.28714	0.254000	0.18369	AGA		0.408	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2		
TRIM21	6737	broad.mit.edu	37	11	4411571	4411571	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:4411571G>A	ENST00000254436.7	-	2	181	c.69C>T	c.(67-69)ttC>ttT	p.F23F	TRIM21_ENST00000543625.1_Silent_p.F23F	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	23					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F23F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CAGGCTCCACGAAGGGGTCCA	0.582																																					p.F23F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C69T	11						.						75.0	77.0	76.0					11																	4411571		2141	4268	6409	4368147	SO:0001819	synonymous_variant	6737	exon2			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.69C>T	11.37:g.4411571G>A			4368147	NM_003141	Q5XPV5|Q96RF8	Silent	SNP	ENST00000254436.7	37	CCDS44525.1																																																																																				0.582	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141	
OR52K2	119774	broad.mit.edu	37	11	4470843	4470843	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:4470843C>T	ENST00000325719.4	+	1	319	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R92W(3)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCAGGGATCGGGAGATAAA	0.527																																					p.R92W												.	.	3	Substitution - Missense(3)	skin(2)|large_intestine(1)	c.C274T	11						.						111.0	91.0	98.0					11																	4470843		2201	4298	6499	4427419	SO:0001583	missense	119774	exon1			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.274C>T	11.37:g.4470843C>T	ENSP00000318956:p.Arg92Trp		4427419	NM_001005172	A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	C	2.067	-0.413874	0.04799	.	.	ENSG00000181963	ENST00000325719	T	0.29397	1.57	4.37	1.24	0.21308	GPCR, rhodopsin-like superfamily (1);	1.295680	0.05633	N	0.582020	T	0.36331	0.0963	M	0.81682	2.555	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.38714	-0.9648	10	0.87932	D	0	.	5.0762	0.14632	0.322:0.5079:0.0:0.1701	.	92	Q8NGK3	O52K2_HUMAN	W	92	ENSP00000318956:R92W	ENSP00000318956:R92W	R	+	1	2	OR52K2	4427419	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-0.226000	0.09139	0.042000	0.15717	-0.706000	0.03657	CGG		0.527	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172	
OR52K2	119774	broad.mit.edu	37	11	4471035	4471035	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:4471035A>G	ENST00000325719.4	+	1	511	c.466A>G	c.(466-468)Aca>Gca	p.T156A		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T156A(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCGGGCTGTGACACTAATGAC	0.567																																					p.T156A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A466G	11						.						117.0	103.0	107.0					11																	4471035		2201	4295	6496	4427611	SO:0001583	missense	119774	exon1			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.466A>G	11.37:g.4471035A>G	ENSP00000318956:p.Thr156Ala		4427611	NM_001005172	A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	A	4.808	0.150309	0.09185	.	.	ENSG00000181963	ENST00000325719	T	0.35421	1.31	4.0	0.287	0.15714	GPCR, rhodopsin-like superfamily (1);	0.522534	0.16117	N	0.228803	T	0.10895	0.0266	N	0.02202	-0.64	0.24160	N	0.995663	B	0.12013	0.005	B	0.17433	0.018	T	0.18241	-1.0343	10	0.23891	T	0.37	.	0.9964	0.01468	0.3805:0.1611:0.3015:0.1569	.	156	Q8NGK3	O52K2_HUMAN	A	156	ENSP00000318956:T156A	ENSP00000318956:T156A	T	+	1	0	OR52K2	4427611	0.000000	0.05858	0.988000	0.46212	0.675000	0.39556	-1.709000	0.01890	0.155000	0.19261	0.397000	0.26171	ACA		0.567	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172	
OR52R1	119695	broad.mit.edu	37	11	4824838	4824838	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:4824838G>C	ENST00000356069.2	-	1	772	c.773C>G	c.(772-774)gCc>gGc	p.A258G	OR52R1_ENST00000380382.1_Missense_Mutation_p.A337G|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A337G(1)|p.A257G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAAAAAAGGGCTGGGATATA	0.488																																					p.A258G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C773G	11						.						111.0	114.0	113.0					11																	4824838		2201	4298	6499	4781414	SO:0001583	missense	119695	exon1			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.773C>G	11.37:g.4824838G>C	ENSP00000348368:p.Ala258Gly		4781414	NM_001005177	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885621	0.33255	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.37752	1.18;1.18	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.141567	0.32231	N	0.006391	T	0.34832	0.0911	L	0.44542	1.39	0.27376	N	0.955555	B	0.18863	0.031	B	0.27796	0.083	T	0.27606	-1.0069	10	0.56958	D	0.05	.	14.3992	0.67031	0.0:0.1488:0.8512:0.0	.	258	Q8NGF1	O52R1_HUMAN	G	258;337	ENSP00000348368:A258G;ENSP00000369742:A337G	ENSP00000348368:A258G	A	-	2	0	OR52R1	4781414	0.000000	0.05858	1.000000	0.80357	0.632000	0.37999	-0.301000	0.08232	2.902000	0.99343	0.650000	0.86243	GCC		0.488	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177	
OR52R1	119695	broad.mit.edu	37	11	4825182	4825182	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:4825182G>A	ENST00000356069.2	-	1	428	c.429C>T	c.(427-429)gtC>gtT	p.V143V	OR52R1_ENST00000380382.1_Silent_p.V222V|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V142V(1)|p.V222V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTGATCACGACCGATGGGG	0.572																																					p.V143V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C429T	11						.						100.0	88.0	92.0					11																	4825182		2201	4298	6499	4781758	SO:0001819	synonymous_variant	119695	exon1			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.429C>T	11.37:g.4825182G>A			4781758	NM_001005177	Q6IFI0	Silent	SNP	ENST00000356069.2	37	CCDS31360.2																																																																																				0.572	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177	
OR52R1	119695	broad.mit.edu	37	11	4825519	4825519	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:4825519G>A	ENST00000356069.2	-	1	91	c.92C>T	c.(91-93)gCc>gTc	p.A31V	OR52R1_ENST00000380382.1_Missense_Mutation_p.A110V|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A110V(1)|p.A30V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAACGGAAAGGCAATCCACAA	0.512																																					p.A31V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C92T	11						.						94.0	84.0	87.0					11																	4825519		2201	4298	6499	4782095	SO:0001583	missense	119695	exon1			BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.92C>T	11.37:g.4825519G>A	ENSP00000348368:p.Ala31Val		4782095	NM_001005177	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438836	0.62955	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00036	8.86;8.86	5.57	3.67	0.42095	.	0.144421	0.31335	N	0.007840	T	0.00178	0.0005	L	0.33189	0.99	0.32153	N	0.583985	P	0.47253	0.892	P	0.47299	0.543	T	0.64748	-0.6334	10	0.72032	D	0.01	.	10.7731	0.46334	0.0723:0.1314:0.7962:0.0	.	31	Q8NGF1	O52R1_HUMAN	V	31;110	ENSP00000348368:A31V;ENSP00000369742:A110V	ENSP00000348368:A31V	A	-	2	0	OR52R1	4782095	0.146000	0.22672	1.000000	0.80357	0.645000	0.38454	2.106000	0.41835	0.876000	0.35872	0.650000	0.86243	GCC		0.512	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177	
OR51S1	119692	broad.mit.edu	37	11	4870073	4870073	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:4870073G>T	ENST00000322101.2	-	1	441	c.366C>A	c.(364-366)gtC>gtA	p.V122V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V122V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCGAGCAAGACAGAGGACT	0.547																																					p.V122V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C366A	11						.						107.0	101.0	103.0					11																	4870073		2201	4298	6499	4826649	SO:0001819	synonymous_variant	119692	exon1			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.366C>A	11.37:g.4870073G>T			4826649	NM_001004758	B9EGZ1|Q6IFI2	Silent	SNP	ENST00000322101.2	37	CCDS31362.1																																																																																				0.547	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758	
OR52J3	119679	broad.mit.edu	37	11	5068207	5068207	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5068207T>C	ENST00000380370.1	+	1	452	c.452T>C	c.(451-453)gTa>gCa	p.V151A		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V151A(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGCATTGTAATTCGTCCC	0.473																																					p.V151A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T452C	11						.						196.0	129.0	152.0					11																	5068207		2201	4298	6499	5024783	SO:0001583	missense	119679	exon1			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.452T>C	11.37:g.5068207T>C	ENSP00000369728:p.Val151Ala		5024783	NM_001001916	Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	T	4.283	0.051688	0.08291	.	.	ENSG00000205495	ENST00000380370	T	0.37411	1.2	4.19	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000713	T	0.33411	0.0862	L	0.53729	1.69	0.09310	N	1	B	0.10296	0.003	B	0.22880	0.042	T	0.32929	-0.9888	10	0.62326	D	0.03	.	9.8235	0.40896	0.0:0.0:0.1731:0.8269	.	151	Q8NH60	O52J3_HUMAN	A	151	ENSP00000369728:V151A	ENSP00000369728:V151A	V	+	2	0	OR52J3	5024783	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.496000	0.06436	0.626000	0.30322	0.533000	0.62120	GTA		0.473	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916	
OR52A1	23538	broad.mit.edu	37	11	5172926	5172926	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5172926A>C	ENST00000380367.1	-	2	1091	c.674T>G	c.(673-675)tTt>tGt	p.F225C	OR52A1_ENST00000328942.1_Missense_Mutation_p.F225C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	225					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.F225C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTGTGATAAATATCTGGAT	0.428																																					p.F225C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T674G	11						.						169.0	157.0	161.0					11																	5172926		2201	4298	6499	5129502	SO:0001583	missense	23538	exon1			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.674T>G	11.37:g.5172926A>C	ENSP00000369725:p.Phe225Cys		5129502	NM_012375	Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010219	0.54361	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00211	8.54;8.54	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.127327	0.35903	N	0.002907	T	0.00695	0.0023	M	0.88241	2.94	0.26854	N	0.968094	D	0.89917	1.0	D	0.97110	1.0	T	0.31138	-0.9954	10	0.87932	D	0	.	14.3327	0.66569	1.0:0.0:0.0:0.0	.	225	Q9UKL2	O52A1_HUMAN	C	225	ENSP00000369725:F225C;ENSP00000333684:F225C	ENSP00000333684:F225C	F	-	2	0	OR52A1	5129502	0.977000	0.34250	0.772000	0.31596	0.700000	0.40528	5.254000	0.65457	2.254000	0.74563	0.529000	0.55759	TTT		0.428	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375	
OR52A1	23538	broad.mit.edu	37	11	5173574	5173574	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5173574T>C	ENST00000380367.1	-	2	443	c.26A>G	c.(25-27)tAc>tGc	p.Y9C	OR52A1_ENST00000328942.1_Missense_Mutation_p.Y9C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	9					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.Y9F(1)|p.Y9C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGGCATGTAGACTGTGAT	0.443																																					p.Y9C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.A26G	11						.						47.0	43.0	45.0					11																	5173574		2201	4297	6498	5130150	SO:0001583	missense	23538	exon1			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.26A>G	11.37:g.5173574T>C	ENSP00000369725:p.Tyr9Cys		5130150	NM_012375	Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695136	0.30052	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.37752	1.18;1.18	5.37	3.01	0.34805	.	0.279385	0.25759	N	0.028485	T	0.25269	0.0614	L	0.39245	1.2	0.25537	N	0.987212	B	0.02656	0.0	B	0.01281	0.0	T	0.20840	-1.0263	10	0.72032	D	0.01	.	4.2115	0.10514	0.662:0.0:0.1652:0.1728	.	9	Q9UKL2	O52A1_HUMAN	C	9	ENSP00000369725:Y9C;ENSP00000333684:Y9C	ENSP00000333684:Y9C	Y	-	2	0	OR52A1	5130150	0.354000	0.24912	1.000000	0.80357	0.641000	0.38312	1.131000	0.31406	1.051000	0.40369	0.533000	0.62120	TAC		0.443	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375	
HBE1	3046	broad.mit.edu	37	11	5290772	5290772	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5290772A>G	ENST00000380237.1	-	4	571	c.227T>C	c.(226-228)aTt>aCt	p.I76T	HBE1_ENST00000292896.2_Missense_Mutation_p.I76T|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	76					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.I76T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGTTTTTAATAGCATCTCC	0.512																																					p.I76T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T227C	11						.						140.0	126.0	131.0					11																	5290772		2201	4297	6498	5247348	SO:0001583	missense	3046	exon2			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.227T>C	11.37:g.5290772A>G	ENSP00000369586:p.Ile76Thr		5247348	NM_005330	Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.434109	0.62955	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.94862	-3.54;-3.54;-3.41	6.06	6.06	0.98353	Globin-like (1);Globin, structural domain (1);	0.459175	0.20596	U	0.089251	D	0.92718	0.7685	L	0.50333	1.59	0.53005	D	0.999965	B	0.06786	0.001	B	0.17433	0.018	D	0.89346	0.3657	10	0.72032	D	0.01	-9.4442	15.4367	0.75152	1.0:0.0:0.0:0.0	.	76	P02100	HBE_HUMAN	T	76	ENSP00000369586:I76T;ENSP00000292896:I76T;ENSP00000380104:I76T	ENSP00000292896:I76T	I	-	2	0	HBE1	5247348	1.000000	0.71417	0.586000	0.28679	0.900000	0.52787	8.932000	0.92897	2.322000	0.78497	0.528000	0.53228	ATT		0.512	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330	
OR51B2	79345	broad.mit.edu	37	11	5345406	5345406	+	Missense_Mutation	SNP	C	C	T	rs142767580	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5345406C>T	ENST00000328813.2	-	1	176	c.122G>A	c.(121-123)gGc>gAc	p.G41D	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41D(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGAGCATGCCATTGCCCAG	0.527																																					p.G41D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G122A	11						.						128.0	108.0	115.0					11																	5345406		2201	4297	6498	5301982	SO:0001583	missense	79345	exon1			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.122G>A	11.37:g.5345406C>T	ENSP00000327540:p.Gly41Asp		5301982	NM_033180	Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729651	0.30684	.	.	ENSG00000184881	ENST00000328813	T	0.03065	4.06	4.28	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.396062	0.18294	U	0.145626	T	0.21186	0.0510	M	0.92880	3.355	0.22684	N	0.99885	D	0.71674	0.998	D	0.67231	0.95	T	0.06807	-1.0806	10	0.51188	T	0.08	.	11.204	0.48758	0.0:0.909:0.0:0.091	.	41	Q9Y5P1	O51B2_HUMAN	D	41	ENSP00000327540:G41D	ENSP00000327540:G41D	G	-	2	0	OR51B2	5301982	0.000000	0.05858	0.579000	0.28588	0.475000	0.33008	0.383000	0.20651	1.044000	0.40200	0.644000	0.83932	GGC		0.527	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180	
OR51B5	282763	broad.mit.edu	37	11	5364513	5364513	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5364513C>T	ENST00000300773.2	-	1	296	c.242G>A	c.(241-243)gGa>gAa	p.G81E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	81					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G81E(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGAGGACTCCCAGCACCGT	0.542																																					p.G81E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G242A	11						.						43.0	44.0	44.0					11																	5364513		2201	4297	6498	5321089	SO:0001583	missense	282763	exon1			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.242G>A	11.37:g.5364513C>T	ENSP00000300773:p.Gly81Glu		5321089	NM_001005567	B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121565	0.56613	.	.	ENSG00000242180	ENST00000300773	T	0.04406	3.63	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.172718	0.26887	N	0.021985	T	0.13970	0.0338	M	0.69523	2.12	0.09310	N	1	P	0.49358	0.923	P	0.52710	0.707	T	0.01805	-1.1270	10	0.72032	D	0.01	.	13.178	0.59639	0.0:0.8384:0.1616:0.0	.	81	Q9H339	O51B5_HUMAN	E	81	ENSP00000300773:G81E	ENSP00000300773:G81E	G	-	2	0	OR51B5	5321089	0.000000	0.05858	0.964000	0.40570	0.934000	0.57294	-0.209000	0.09358	2.493000	0.84123	0.650000	0.86243	GGA		0.542	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567	
OR51I2	390064	broad.mit.edu	37	11	5475049	5475049	+	Nonsense_Mutation	SNP	G	G	T	rs142182221		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5475049G>T	ENST00000341449.2	+	1	412	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	111					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E111K(1)|p.E111*(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCATGATGGAATCAGGTAT	0.473																																					p.E111X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|skin(1)	c.G331T	11						.						135.0	130.0	132.0					11																	5475049		2201	4297	6498	5431625	SO:0001587	stop_gained	390064	exon1			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.331G>T	11.37:g.5475049G>T	ENSP00000341987:p.Glu111*		5431625	NM_001004754	Q6IF81	Nonsense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233328	0.95207	.	.	ENSG00000187918	ENST00000341449	.	.	.	5.58	4.67	0.58626	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3291	0.60477	0.0759:0.0:0.9241:0.0	.	.	.	.	X	111	.	ENSP00000341987:E111X	E	+	1	0	OR51I2	5431625	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.641000	0.61375	1.597000	0.50072	0.655000	0.94253	GAA		0.473	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754	
OR51I2	390064	broad.mit.edu	37	11	5475196	5475196	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5475196C>T	ENST00000341449.2	+	1	559	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	160					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P160S(2)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCCCTCTTCCCTTTCTTAT	0.498																																					p.P160S												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C478T	11						.						151.0	140.0	144.0					11																	5475196		2201	4297	6498	5431772	SO:0001583	missense	390064	exon1			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.478C>T	11.37:g.5475196C>T	ENSP00000341987:p.Pro160Ser		5431772	NM_001004754	Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648838	0.67358	.	.	ENSG00000187918	ENST00000341449	T	0.36878	1.23	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.448834	0.21576	N	0.072336	T	0.64549	0.2608	M	0.80422	2.495	0.36583	D	0.873674	D	0.89917	1.0	D	0.91635	0.999	T	0.70278	-0.4916	10	0.59425	D	0.04	.	18.3106	0.90199	0.0:1.0:0.0:0.0	.	160	Q9H344	O51I2_HUMAN	S	160	ENSP00000341987:P160S	ENSP00000341987:P160S	P	+	1	0	OR51I2	5431772	0.000000	0.05858	1.000000	0.80357	0.684000	0.39900	0.037000	0.13840	2.906000	0.99361	0.655000	0.94253	CCC		0.498	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754	
OR52H1	390067	broad.mit.edu	37	11	5565829	5565829	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5565829C>T	ENST00000322653.4	-	1	950	c.925G>A	c.(925-927)Gat>Aat	p.D309N	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D309N(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAACCTTATCTCTGATCTGC	0.403																																					p.D309N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G925A	11						.						141.0	136.0	138.0					11																	5565829		2201	4297	6498	5522405	SO:0001583	missense	390067	exon1			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.925G>A	11.37:g.5565829C>T	ENSP00000326259:p.Asp309Asn		5522405	NM_001005289	B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998056	0.35226	.	.	ENSG00000181616	ENST00000322653	T	0.35973	1.28	5.22	5.22	0.72569	.	0.419842	0.22469	N	0.059642	T	0.35307	0.0927	L	0.58302	1.8	0.27277	N	0.958206	B	0.12630	0.006	B	0.15052	0.012	T	0.28902	-1.0029	10	0.62326	D	0.03	.	10.9212	0.47165	0.0:0.9132:0.0:0.0868	.	309	Q8NGJ2	O52H1_HUMAN	N	309	ENSP00000326259:D309N	ENSP00000326259:D309N	D	-	1	0	OR52H1	5522405	0.000000	0.05858	1.000000	0.80357	0.760000	0.43138	-0.124000	0.10595	2.430000	0.82344	0.650000	0.86243	GAT		0.403	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289	
TRIM6	117854	broad.mit.edu	37	11	5626712	5626712	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5626712A>G	ENST00000278302.5	+	4	805	c.665A>G	c.(664-666)gAt>gGt	p.D222G	AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Missense_Mutation_p.D47G|TRIM6_ENST00000380107.1_Missense_Mutation_p.D196G|TRIM6_ENST00000506134.1_Missense_Mutation_p.D47G|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.D250G|TRIM6_ENST00000507320.1_Missense_Mutation_p.D47G|TRIM6_ENST00000515022.1_Missense_Mutation_p.D47G|TRIM6_ENST00000380097.3_Missense_Mutation_p.D250G|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	222					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.D250G(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTGAGAATGATCTGGTCCAC	0.527											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									p.D250G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A749G	11						.						83.0	80.0	81.0					11																	5626712		2201	4297	6498	5583288	SO:0001583	missense	445372	exon4			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.665A>G	11.37:g.5626712A>G	ENSP00000278302:p.Asp222Gly	627	5583288	NM_001003818	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798299	0.31777	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59;3.59	5.09	3.96	0.45880	.	.	.	.	.	T	0.06005	0.0156	L	0.58101	1.795	0.09310	N	1	B;B;B;P;B	0.38504	0.361;0.088;0.118;0.634;0.361	B;B;B;B;B	0.32805	0.054;0.063;0.073;0.153;0.054	T	0.29912	-0.9996	9	0.54805	T	0.06	.	8.1411	0.31084	0.9061:0.0:0.0939:0.0	.	47;196;250;250;222	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	G	222;47;47;196;250;47;129;47;47;250;250	ENSP00000278302:D222G;ENSP00000414108:D47G;ENSP00000427704:D47G;ENSP00000369450:D196G;ENSP00000369440:D250G;ENSP00000399215:D47G;ENSP00000421802:D47G;ENSP00000421079:D47G;ENSP00000346916:D250G	ENSP00000278302:D222G	D	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5583288	0.001000	0.12720	0.030000	0.17652	0.546000	0.35178	1.319000	0.33655	1.030000	0.39839	0.533000	0.62120	GAT		0.527	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818	
TRIM22	10346	broad.mit.edu	37	11	5730798	5730798	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5730798C>T	ENST00000379965.3	+	8	1694	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	473	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R473C(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CTCTGGATGTCGCTTTTCTCG	0.483																																					p.R469C	GBM(104;491 2336 5222)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1405T	11						.						139.0	145.0	143.0					11																	5730798		2200	4297	6497	5687374	SO:0001583	missense	10346	exon8			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1417C>T	11.37:g.5730798C>T	ENSP00000369299:p.Arg473Cys		5687374	NM_001199573	Q05CQ0|Q15521	Missense_Mutation	SNP	ENST00000379965.3	37	CCDS41612.1	.	.	.	.	.	.	.	.	.	.	C	8.993	0.978232	0.18812	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000455293	T	0.70164	-0.46	3.88	-3.16	0.05217	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.52837	0.1759	N	0.20401	0.57	0.09310	N	1	D;B;B	0.76494	0.999;0.003;0.004	P;B;B	0.56700	0.804;0.003;0.004	T	0.45716	-0.9242	9	0.30854	T	0.27	.	0.3376	0.00328	0.3131:0.2859:0.1585:0.2425	.	395;469;473	F8WAP8;Q8IYM9-2;Q8IYM9	.;.;TRI22_HUMAN	C	473;284;395	ENSP00000369299:R473C	ENSP00000369299:R473C	R	+	1	0	TRIM22	5687374	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	-0.887000	0.04152	-0.270000	0.09285	-0.373000	0.07131	CGC		0.483	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074	
OR52N1	79473	broad.mit.edu	37	11	5809116	5809116	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5809116G>T	ENST00000317078.1	-	1	930	c.931C>A	c.(931-933)Ctt>Att	p.L311I	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L311I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTTCCCTTAAGAAAGAACCTA	0.388																																					p.L311I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C931A	11						.						95.0	100.0	98.0					11																	5809116		2124	4091	6215	5765692	SO:0001583	missense	79473	exon1			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.931C>A	11.37:g.5809116G>T	ENSP00000322823:p.Leu311Ile		5765692	NM_001001913	Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	G	7.124	0.578505	0.13686	.	.	ENSG00000181001	ENST00000317078	T	0.38401	1.14	4.2	-4.07	0.03975	.	1.201100	0.06365	N	0.712498	T	0.22282	0.0537	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28490	-1.0042	10	0.22109	T	0.4	.	11.8637	0.52480	0.7097:0.0:0.2903:0.0	.	311	Q8NH53	O52N1_HUMAN	I	311	ENSP00000322823:L311I	ENSP00000322823:L311I	L	-	1	0	OR52N1	5765692	0.000000	0.05858	0.001000	0.08648	0.181000	0.23173	-1.147000	0.03188	-1.052000	0.03222	-0.192000	0.12808	CTT		0.388	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913	
OR56A3	390083	broad.mit.edu	37	11	5969259	5969259	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:5969259C>T	ENST00000329564.6	+	1	690	c.683C>T	c.(682-684)gCt>gTt	p.A228V		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A228V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCTGCGAGCTGTGCTGAGA	0.517																																					p.A228V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C683T	11						.						198.0	194.0	195.0					11																	5969259		2184	4285	6469	5925835	SO:0001583	missense	390083	exon1				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.683C>T	11.37:g.5969259C>T	ENSP00000331572:p.Ala228Val		5925835	NM_001003443	A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	C	8.180	0.793701	0.16327	.	.	ENSG00000184478	ENST00000329564	T	0.00227	8.5	5.13	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.00271	0.0008	M	0.62723	1.935	0.33532	D	0.593729	B	0.18741	0.03	B	0.34385	0.181	T	0.34900	-0.9810	10	0.59425	D	0.04	-20.0088	11.3179	0.49403	0.0:0.8487:0.0:0.1513	.	228	Q8NH54	O56A3_HUMAN	V	228	ENSP00000331572:A228V	ENSP00000331572:A228V	A	+	2	0	OR56A3	5925835	0.000000	0.05858	0.994000	0.49952	0.015000	0.08874	0.168000	0.16622	0.745000	0.32763	-0.201000	0.12746	GCT		0.517	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443	
OR52L1	338751	broad.mit.edu	37	11	6007675	6007675	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6007675G>A	ENST00000332249.4	-	1	540	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I147I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCATTCCGATGCACCCTA	0.517																																					p.I162I	Melanoma(121;653 1666 10547 22796 51255)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C486T	11						.						79.0	75.0	76.0					11																	6007675		2034	4191	6225	5964251	SO:0001819	synonymous_variant	338751	exon1			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.486C>T	11.37:g.6007675G>A			5964251	NM_001005173	B2RPA6|Q6IFK9	Silent	SNP	ENST00000332249.4	37	CCDS44529.1																																																																																				0.517	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173	
OR52B2	255725	broad.mit.edu	37	11	6191099	6191099	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6191099C>T	ENST00000530810.1	-	1	539	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R153Q(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAGCTTCGGGTGATGAC	0.507																																					p.R153Q	NSCLC(5;186 261 1778 7098 14207)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G458A	11						.						61.0	62.0	62.0					11																	6191099		2132	4253	6385	6147675	SO:0001583	missense	255725	exon1			AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.458G>A	11.37:g.6191099C>T	ENSP00000432011:p.Arg153Gln		6147675	NM_001004052	Q8NGM7	Missense_Mutation	SNP	ENST00000530810.1	37	CCDS53598.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488928	0.44249	.	.	ENSG00000255307	ENST00000530810	T	0.37411	1.2	5.17	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.50922	0.1644	H	0.94385	3.53	0.28806	N	0.898507	B	0.27316	0.175	B	0.19148	0.024	T	0.56727	-0.7931	9	0.87932	D	0	.	13.0426	0.58908	0.0:0.9227:0.0:0.0773	.	153	Q96RD2	O52B2_HUMAN	Q	153	ENSP00000432011:R153Q	ENSP00000432011:R153Q	R	-	2	0	OR52B2	6147675	0.000000	0.05858	0.873000	0.34254	0.470000	0.32858	0.411000	0.21115	1.405000	0.46838	0.551000	0.68910	CGA		0.507	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052	
FAM160A2	84067	broad.mit.edu	37	11	6245408	6245408	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6245408C>T	ENST00000449352.2	-	3	472	c.209G>A	c.(208-210)cGc>cAc	p.R70H	FAM160A2_ENST00000265978.4_Missense_Mutation_p.R70H|FAM160A2_ENST00000524416.1_Missense_Mutation_p.R70H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	70					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.R70H(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGTGGTTGCGCACAGCACT	0.617																																					p.R70H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G209A	11						.						43.0	43.0	43.0					11																	6245408		2201	4296	6497	6201984	SO:0001583	missense	84067	exon3				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.209G>A	11.37:g.6245408C>T	ENSP00000416918:p.Arg70His		6201984	NM_032127	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055349	0.36277	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.15372	3.05;3.05;2.43	4.85	3.86	0.44501	.	0.204155	0.37530	N	0.002059	T	0.13030	0.0316	L	0.29908	0.895	0.35462	D	0.796633	B;B;B	0.13145	0.004;0.001;0.007	B;B;B	0.12156	0.004;0.002;0.007	T	0.09079	-1.0691	10	0.42905	T	0.14	-19.0822	12.1092	0.53830	0.0:0.9023:0.0:0.0977	.	70;70;70	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	H	70	ENSP00000416918:R70H;ENSP00000265978:R70H;ENSP00000431773:R70H	ENSP00000265978:R70H	R	-	2	0	FAM160A2	6201984	0.780000	0.28664	1.000000	0.80357	0.995000	0.86356	1.262000	0.32992	2.536000	0.85505	0.655000	0.94253	CGC		0.617	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127	
CNGA4	1262	broad.mit.edu	37	11	6260633	6260633	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6260633G>A	ENST00000379936.2	+	2	197	c.82G>A	c.(82-84)Gac>Aac	p.D28N	CNGA4_ENST00000533426.1_5'UTR	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	28					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.D28N(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTGTCCTGGACCCATCTGG	0.483																																					p.D28N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G82A	11						.						216.0	221.0	219.0					11																	6260633		2201	4296	6497	6217209	SO:0001583	missense	1262	exon2			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.82G>A	11.37:g.6260633G>A	ENSP00000369268:p.Asp28Asn		6217209	NM_001037329		Missense_Mutation	SNP	ENST00000379936.2	37	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262315	0.59431	.	.	ENSG00000132259	ENST00000379936	D	0.97598	-4.45	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95576	0.8562	L	0.46670	1.46	0.49213	D	0.999768	B	0.31503	0.326	B	0.36335	0.222	D	0.94223	0.7469	10	0.37606	T	0.19	.	17.1382	0.86745	0.0:0.0:1.0:0.0	.	28	Q8IV77	CNGA4_HUMAN	N	28	ENSP00000369268:D28N	ENSP00000369268:D28N	D	+	1	0	CNGA4	6217209	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.868000	0.69605	2.634000	0.89283	0.655000	0.94253	GAC		0.483	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	
CCKBR	887	broad.mit.edu	37	11	6291430	6291430	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6291430T>G	ENST00000334619.2	+	3	709	c.516T>G	c.(514-516)gcT>gcG	p.A172A	CCKBR_ENST00000525462.1_Silent_p.A172A|CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000532715.1_Silent_p.A88A	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	172					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.A172A(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCCACGCGGCTCGCGTGATTG	0.652																																					p.A172A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T516G	11						.						45.0	37.0	40.0					11																	6291430		2199	4294	6493	6248006	SO:0001819	synonymous_variant	887	exon3			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.516T>G	11.37:g.6291430T>G			6248006	NM_176875	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	CCDS7761.1																																																																																				0.652	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875	
PRKCDBP	112464	broad.mit.edu	37	11	6340499	6340499	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6340499G>A	ENST00000303927.3	-	2	850	c.680C>T	c.(679-681)gCg>gTg	p.A227V	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.A259V	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	227					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)		p.A227V(1)		large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGCTCCAGCGCAGGCTGGGC	0.701																																					p.A227V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C680T	11						.						46.0	55.0	52.0					11																	6340499		2201	4296	6497	6297075	SO:0001583	missense	112464	exon2			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.680C>T	11.37:g.6340499G>A	ENSP00000307292:p.Ala227Val		6297075	NM_145040		Missense_Mutation	SNP	ENST00000303927.3	37	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370230	0.24771	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.50813	0.73;1.68	5.08	-5.39	0.02664	.	1.763020	0.02462	N	0.086718	T	0.26048	0.0635	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08146	-1.0736	10	0.30854	T	0.27	-3.6122	3.9887	0.09527	0.1158:0.0964:0.2605:0.5273	.	227	Q969G5	PRDBP_HUMAN	V	227;259	ENSP00000307292:A227V;ENSP00000432047:A259V	ENSP00000307292:A227V	A	-	2	0	PRKCDBP	6297075	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.555000	0.05999	-0.998000	0.03446	-1.367000	0.01198	GCG		0.701	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040	
APBB1	322	broad.mit.edu	37	11	6415153	6415153	+	IGR	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6415153C>T	ENST00000609360.1	-	0	2642				SMPD1_ENST00000527275.1_Silent_p.F455F|SMPD1_ENST00000342245.4_Silent_p.F456F|SMPD1_ENST00000356761.2_Silent_p.F400F|APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000299397.3_Silent_p.F412F	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.F412F(1)|p.F456F(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTGCTCAGTTCTTTGGCCACA	0.527																																					p.F455F	GBM(147;1810 2556 5672 39622)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1365T	11						.						83.0	85.0	85.0					11																	6415153		2201	4296	6497	6371729	SO:0001628	intergenic_variant	6609	exon5			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6415153C>T			6371729	NM_001007593	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37		.	.	.	.	.	.	.	.	.	.	C	8.939	0.965451	0.18583	.	.	ENSG00000166311	ENST00000526280	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	T	0.60676	0.2287	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58306	-0.7659	4	.	.	.	-40.4085	9.9143	0.41425	0.0:0.9064:0.0:0.0936	.	.	.	.	F	142	.	.	S	+	2	0	SMPD1	6371729	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.833000	0.39161	2.420000	0.82092	0.561000	0.74099	TCT		0.527	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
APBB1	322	broad.mit.edu	37	11	6415662	6415662	+	IGR	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6415662T>G	ENST00000609360.1	-	0	2642				SMPD1_ENST00000527275.1_Missense_Mutation_p.F573C|SMPD1_ENST00000342245.4_Missense_Mutation_p.F574C|SMPD1_ENST00000356761.2_Missense_Mutation_p.F518C|APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000299397.3_Missense_Mutation_p.F530C	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.F574C(1)|p.F530C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACCTTCTGGTTTCTCTACCAT	0.607																																					p.F573C	GBM(147;1810 2556 5672 39622)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1718G	11						.						133.0	129.0	130.0					11																	6415662		2201	4296	6497	6372238	SO:0001628	intergenic_variant	6609	exon6			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6415662T>G			6372238	NM_001007593	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.64|18.64	3.667220|3.667220	0.67814|0.67814	.|.	.|.	ENSG00000166311|ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275|ENST00000526280	D;D;D;D|D	0.88354|0.87179	-2.37;-2.37;-2.37;-2.37|-2.22	4.88|4.88	3.69|3.69	0.42338|0.42338	.|.	0.077938|0.077938	0.53938|0.53938	D|D	0.000058|0.000058	D|D	0.87184|0.87184	0.6114|0.6114	L|L	0.56769|0.56769	1.78|1.78	0.40088|0.40088	D|D	0.97621|0.97621	D;D;D|.	0.65815|.	0.989;0.993;0.995|.	P;P;P|.	0.56343|.	0.701;0.796;0.598|.	D|D	0.86661|0.86661	0.1904|0.1904	10|8	0.66056|0.51188	D|T	0.02|0.08	-25.0616|-25.0616	7.2033|7.2033	0.25893|0.25893	0.2962:0.0:0.0:0.7038|0.2962:0.0:0.0:0.7038	.|.	573;530;572|.	E9PKS3;G3XAB5;P17405|.	.;.;ASM_HUMAN|.	C|V	530;518;574;573|260	ENSP00000299397:F530C;ENSP00000349203:F518C;ENSP00000340409:F574C;ENSP00000435350:F573C|ENSP00000436278:F260V	ENSP00000299397:F530C|ENSP00000436278:F260V	F|F	+|+	2|1	0|0	SMPD1|SMPD1	6372238|6372238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.289000|3.289000	0.51747|0.51747	2.052000|2.052000	0.61016|0.61016	0.379000|0.379000	0.24179|0.24179	TTT|TTC		0.607	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
APBB1	322	broad.mit.edu	37	11	6424729	6424729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6424729C>A	ENST00000609360.1	-	4	1042	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	APBB1_ENST00000299402.6_Nonsense_Mutation_p.E315*|APBB1_ENST00000389906.2_Nonsense_Mutation_p.E315*|APBB1_ENST00000311051.3_Nonsense_Mutation_p.E315*|APBB1_ENST00000608704.1_Nonsense_Mutation_p.E56*|APBB1_ENST00000609331.1_Nonsense_Mutation_p.E80*|APBB1_ENST00000529519.1_5'UTR|APBB1_ENST00000608655.1_Nonsense_Mutation_p.E95*|APBB1_ENST00000608645.1_Nonsense_Mutation_p.E56*|APBB1_ENST00000608394.1_Nonsense_Mutation_p.E56*|APBB1_ENST00000530885.1_Nonsense_Mutation_p.E95*	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	315					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E315*(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTCCAAAATTCTCCATCCTCA	0.512																																					p.E315X	GBM(147;1810 2556 5672 39622)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G943T	11						.						114.0	112.0	112.0					11																	6424729		2201	4296	6497	6381305	SO:0001587	stop_gained	322	exon4			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.943G>T	11.37:g.6424729C>A	ENSP00000477213:p.Glu315*		6381305	NM_001164	A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Nonsense_Mutation	SNP	ENST00000609360.1	37		.	.	.	.	.	.	.	.	.	.	C	36	5.657405	0.96724	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	.	.	.	4.74	4.74	0.60224	.	0.169611	0.37095	N	0.002242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-7.8568	13.5728	0.61856	0.0:1.0:0.0:0.0	.	.	.	.	X	315;315;315;164;56;80;95;56	.	ENSP00000299402:E315X	E	-	1	0	APBB1	6381305	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	3.774000	0.55341	2.332000	0.79248	0.305000	0.20034	GAA		0.512	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
OR6A2	8590	broad.mit.edu	37	11	6816561	6816561	+	Missense_Mutation	SNP	G	G	A	rs151066337		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6816561G>A	ENST00000332601.3	-	1	567	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	127					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R127C(3)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCATATAGCGATCATAGGCC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		20676	0.0		0.001	False		,,,				2504	0.0				p.R127C												.	.	3	Substitution - Missense(3)	large_intestine(1)|pancreas(1)|skin(1)	c.C379T	11						.	G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	94.0	90.0	91.0		379	5.1	0.7	11	dbSNP_134	91	0,8592		0,0,4296	no	missense	OR6A2	NM_003696.2	180	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	127/328	6816561	1,12993	2201	4296	6497	6773137	SO:0001583	missense	8590	exon1			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.379C>T	11.37:g.6816561G>A	ENSP00000330384:p.Arg127Cys		6773137	NM_003696	Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	CCDS7772.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.91	2.674967	0.47781	2.27E-4	0.0	ENSG00000184933	ENST00000332601	T	0.77358	-1.09	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	T	0.78285	0.4259	M	0.84585	2.705	0.53688	D	0.999979	P	0.38280	0.625	B	0.29663	0.105	T	0.83092	-0.0132	10	0.87932	D	0	.	16.3373	0.83068	0.0:0.0:1.0:0.0	.	127	O95222	OR6A2_HUMAN	C	127	ENSP00000330384:R127C	ENSP00000330384:R127C	R	-	1	0	OR6A2	6773137	0.987000	0.35691	0.686000	0.30086	0.680000	0.39746	1.886000	0.39688	2.807000	0.96579	0.655000	0.94253	CGC		0.527	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696	
OR2D2	120776	broad.mit.edu	37	11	6912920	6912920	+	Missense_Mutation	SNP	G	G	A	rs113111396		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6912920G>A	ENST00000299459.2	-	1	910	c.812C>T	c.(811-813)tCg>tTg	p.S271L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	271					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S271L(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AACAGACACCGATTTTTCCTG	0.438																																					p.S271L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C812T	11						.						110.0	105.0	106.0					11																	6912920		2201	4296	6497	6869496	SO:0001583	missense	120776	exon1			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.812C>T	11.37:g.6912920G>A	ENSP00000299459:p.Ser271Leu		6869496	NM_003700	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Missense_Mutation	SNP	ENST00000299459.2	37	CCDS31416.1	.	.	.	.	.	.	.	.	.	.	g	0.020	-1.434002	0.01108	.	.	ENSG00000166368	ENST00000299459	T	0.00349	7.99	5.08	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.199720	0.24864	N	0.034984	T	0.00073	0.0002	N	0.00110	-2.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15838	-1.0423	10	0.10636	T	0.68	-9.1851	5.9423	0.19199	0.7725:0.0:0.0816:0.1459	.	271	Q9H210	OR2D2_HUMAN	L	271	ENSP00000299459:S271L	ENSP00000299459:S271L	S	-	2	0	OR2D2	6869496	0.001000	0.12720	0.170000	0.22879	0.642000	0.38348	1.406000	0.34646	0.473000	0.27368	-0.295000	0.09555	TCG		0.438	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700	
OR2D2	120776	broad.mit.edu	37	11	6913726	6913726	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6913726T>C	ENST00000299459.2	-	1	104	c.6A>G	c.(4-6)agA>agG	p.R2R		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	2					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R2R(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GATTTATCTGTCTCATAGTTT	0.413																																					p.R2R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A6G	11						.						93.0	72.0	79.0					11																	6913726		2201	4296	6497	6870302	SO:0001819	synonymous_variant	120776	exon1			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.6A>G	11.37:g.6913726T>C			6870302	NM_003700	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	CCDS31416.1																																																																																				0.413	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700	
ZNF215	7762	broad.mit.edu	37	11	6977033	6977033	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:6977033G>A	ENST00000278319.5	+	7	1413	c.825G>A	c.(823-825)agG>agA	p.R275R	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Silent_p.R275R|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	275					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R275R(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GGTTATATAGGAACCAGAAAA	0.388																																					p.R275R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G825A	11						.						84.0	89.0	87.0					11																	6977033		2201	4295	6496	6933609	SO:0001819	synonymous_variant	7762	exon7			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.825G>A	11.37:g.6977033G>A			6933609	NM_013250	Q96C84	Silent	SNP	ENST00000278319.5	37	CCDS7775.1																																																																																				0.388	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1		
NLRP14	338323	broad.mit.edu	37	11	7059844	7059844	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:7059844C>A	ENST00000299481.4	+	2	373	c.27C>A	c.(25-27)ttC>ttA	p.F9L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	9	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.F9L(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CATCTTCTTTCTTTCCTGATT	0.388																																					p.F9L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C27A	11						.						90.0	98.0	95.0					11																	7059844		2201	4296	6497	7016420	SO:0001583	missense	338323	exon2			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.27C>A	11.37:g.7059844C>A	ENSP00000299481:p.Phe9Leu		7016420	NM_176822	Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	8.622	0.891734	0.17613	.	.	ENSG00000158077	ENST00000299481	T	0.57595	0.39	4.0	1.96	0.26148	Pyrin (1);DEATH-like (2);	0.746877	0.11587	N	0.549168	T	0.45458	0.1343	M	0.66297	2.02	0.26510	N	0.974616	B	0.14438	0.01	B	0.10450	0.005	T	0.37549	-0.9701	10	0.30078	T	0.28	.	4.405	0.11406	0.2858:0.5994:0.0:0.1147	.	9	Q86W24	NAL14_HUMAN	L	9	ENSP00000299481:F9L	ENSP00000299481:F9L	F	+	3	2	NLRP14	7016420	0.777000	0.28628	0.989000	0.46669	0.263000	0.26337	0.838000	0.27572	0.518000	0.28383	-0.136000	0.14681	TTC		0.388	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
OVCH2	341277	broad.mit.edu	37	11	7716874	7716874	+	RNA	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:7716874G>A	ENST00000533663.1	-	0	0				OVCH2_ENST00000534193.2_RNA|OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.F403F(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CATCAGAGACGAATTTCAGCC	0.468																																					p.F403F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1209T	11						.																																			7673450			341277	exon12			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7716874G>A			7673450	NM_198185		Silent	SNP	ENST00000533663.1	37																																																																																					0.468	OVCH2-002	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000383928.1	NM_198185	
OR10A6	390093	broad.mit.edu	37	11	7949500	7949500	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:7949500G>A	ENST00000309838.2	-	1	709	c.710C>T	c.(709-711)gCc>gTc	p.A237V		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGGAAAAGGCCTTTTGTCT	0.443																																					p.A237V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C710T	11						.						119.0	106.0	111.0					11																	7949500		2201	4296	6497	7906076	SO:0001583	missense	390093	exon1			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.710C>T	11.37:g.7949500G>A	ENSP00000312470:p.Ala237Val		7906076	NM_001004461	Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953322	0.73902	.	.	ENSG00000175393	ENST00000309838	T	0.00342	8.03	4.43	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000599	T	0.00695	0.0023	M	0.84773	2.715	0.29617	N	0.846464	D	0.55800	0.973	P	0.60117	0.869	T	0.13469	-1.0508	10	0.56958	D	0.05	.	10.6191	0.45470	0.0958:0.0:0.9042:0.0	.	237	Q8NH74	O10A6_HUMAN	V	237	ENSP00000312470:A237V	ENSP00000312470:A237V	A	-	2	0	OR10A6	7906076	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.213000	0.58520	1.211000	0.43351	0.655000	0.94253	GCC		0.443	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
OR10A6	390093	broad.mit.edu	37	11	7950149	7950149	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:7950149G>A	ENST00000309838.2	-	1	60	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P21S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGAGCTCAGGATAGTTAGAA	0.418																																					p.P21S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C61T	11						.						62.0	65.0	64.0					11																	7950149		2201	4295	6496	7906725	SO:0001583	missense	390093	exon1			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.61C>T	11.37:g.7950149G>A	ENSP00000312470:p.Pro21Ser		7906725	NM_001004461	Q6IF59	Missense_Mutation	SNP	ENST00000309838.2	37	CCDS31420.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853442	0.32791	.	.	ENSG00000175393	ENST00000309838	T	0.00428	7.44	4.4	4.4	0.53042	.	0.000000	0.43260	D	0.000583	T	0.00784	0.0026	L	0.43554	1.36	0.28352	N	0.920831	D	0.89917	1.0	D	0.87578	0.998	T	0.59375	-0.7466	10	0.51188	T	0.08	.	14.8541	0.70323	0.0:0.0:1.0:0.0	.	21	Q8NH74	O10A6_HUMAN	S	21	ENSP00000312470:P21S	ENSP00000312470:P21S	P	-	1	0	OR10A6	7906725	0.831000	0.29352	1.000000	0.80357	0.060000	0.15804	2.119000	0.41958	2.445000	0.82738	0.650000	0.86243	CCT		0.418	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461	
OR10A3	26496	broad.mit.edu	37	11	7960790	7960790	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:7960790G>T	ENST00000360759.3	-	1	351	c.278C>A	c.(277-279)tCt>tAt	p.S93Y		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	93					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93Y(2)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCCACAAAAGAAATCATAGT	0.448																																					p.S93Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C278A	11						.						109.0	101.0	104.0					11																	7960790		2201	4296	6497	7917366	SO:0001583	missense	26496	exon1			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.278C>A	11.37:g.7960790G>T	ENSP00000353988:p.Ser93Tyr		7917366	NM_001003745	B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575772	0.28092	.	.	ENSG00000170683	ENST00000360759	T	0.00745	5.75	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.370544	0.19071	U	0.123510	T	0.02929	0.0087	M	0.93375	3.41	0.09310	N	1	B	0.32620	0.378	B	0.33042	0.157	T	0.04281	-1.0963	10	0.87932	D	0	.	16.0778	0.80979	0.0:0.0:1.0:0.0	.	93	P58181	O10A3_HUMAN	Y	93	ENSP00000353988:S93Y	ENSP00000353988:S93Y	S	-	2	0	OR10A3	7917366	0.987000	0.35691	0.008000	0.14137	0.158000	0.22134	6.356000	0.73046	2.742000	0.94016	0.650000	0.86243	TCT		0.448	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745	
ST5	6764	broad.mit.edu	37	11	8717079	8717079	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:8717079C>T	ENST00000534127.1	-	22	3695	c.3310G>A	c.(3310-3312)Gtg>Atg	p.V1104M	ST5_ENST00000530438.1_Missense_Mutation_p.V684M|ST5_ENST00000357665.1_Missense_Mutation_p.V1104M|ST5_ENST00000534278.1_Missense_Mutation_p.V295M|ST5_ENST00000530991.1_Missense_Mutation_p.V576M|ST5_ENST00000313726.6_Missense_Mutation_p.V1104M|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000526757.1_Missense_Mutation_p.V684M|ST5_ENST00000526099.1_Missense_Mutation_p.V617M|RPL27A_ENST00000531102.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1104					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TACTGCTCCACTCGCTGCTCA	0.488																																					p.V1104M												.	.	0			c.G3310A	11						.						138.0	120.0	126.0					11																	8717079		2201	4296	6497	8673655	SO:0001583	missense	6764	exon22			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3310G>A	11.37:g.8717079C>T	ENSP00000433528:p.Val1104Met		8673655	NM_005418	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848937	0.91277	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.18502	2.74;3.1;3.1;2.75;3.1;2.73;2.21;2.74	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	L	0.43152	1.355	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.994	D;D;D	0.72075	0.957;0.976;0.961	T	0.02698	-1.1122	10	0.72032	D	0.01	-10.8024	19.5575	0.95357	0.0:1.0:0.0:0.0	.	617;684;1104	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	M	684;1104;1104;576;1104;617;295;684	ENSP00000435097:V684M;ENSP00000433528:V1104M;ENSP00000319678:V1104M;ENSP00000432887:V576M;ENSP00000350294:V1104M;ENSP00000436808:V617M;ENSP00000433349:V295M;ENSP00000436802:V684M	ENSP00000319678:V1104M	V	-	1	0	ST5	8673655	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.268000	0.78473	2.733000	0.93635	0.555000	0.69702	GTG		0.488	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	
SCUBE2	57758	broad.mit.edu	37	11	9047346	9047346	+	Silent	SNP	G	G	A	rs534458521		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:9047346G>A	ENST00000309263.3	-	20	2742	c.2670C>T	c.(2668-2670)atC>atT	p.I890I	SCUBE2_ENST00000520467.1_Silent_p.I862I|SCUBE2_ENST00000457346.2_Silent_p.I919I|SCUBE2_ENST00000450649.2_Silent_p.I698I|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	890	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.I890I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGGTGAAGGCGATGGGGCGTT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19995	0.001		0.0	False		,,,				2504	0.0				p.I862I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2586T	11						.						191.0	168.0	176.0					11																	9047346		2201	4296	6497	9003922	SO:0001819	synonymous_variant	57758	exon20			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2670C>T	11.37:g.9047346G>A			9003922	NM_020974	Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.758|9.758	1.169399|1.169399	0.21621|0.21621	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000528651|ENST00000519202	.|.	.|.	.|.	5.39|5.39	-3.72|-3.72	0.04411|0.04411	.|.	.|.	.|.	.|.	.|.	T|T	0.53738|0.53738	0.1815|0.1815	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.52555|0.52555	-0.8560|-0.8560	4|4	.|.	.|.	.|.	.|.	9.7902|9.7902	0.40702|0.40702	0.3695:0.0:0.5199:0.1106|0.3695:0.0:0.5199:0.1106	.|.	.|.	.|.	.|.	C|L	78|73	.|.	.|.	R|S	-|-	1|2	0|0	SCUBE2|SCUBE2	9003922|9003922	0.749000|0.749000	0.28305|0.28305	0.950000|0.950000	0.38849|0.38849	0.986000|0.986000	0.74619|0.74619	-0.183000|-0.183000	0.09712|0.09712	-0.662000|-0.662000	0.05338|0.05338	-0.797000|-0.797000	0.03246|0.03246	CGC|TCG		0.502	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
SCUBE2	57758	broad.mit.edu	37	11	9048978	9048978	+	Silent	SNP	G	G	A	rs139856572		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:9048978G>A	ENST00000309263.3	-	19	2619	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	SCUBE2_ENST00000520467.1_Silent_p.I821I|SCUBE2_ENST00000457346.2_Silent_p.I878I|SCUBE2_ENST00000450649.2_Intron|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	849	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.I849I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CAGGGACCACGATCAGGATGC	0.572																																					p.I821I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2463T	11						.	G	,	0,4402		0,0,2201	144.0	119.0	128.0		,2463	-4.3	1.0	11	dbSNP_134	128	1,8591	1.2+/-3.3	0,1,4295	no	intron,coding-synonymous	SCUBE2	NM_001170690.1,NM_020974.2	,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,	,821/972	9048978	1,12993	2201	4296	6497	9005554	SO:0001819	synonymous_variant	57758	exon19			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2547C>T	11.37:g.9048978G>A			9005554	NM_020974	Q2NKQ8|Q6ZWI1	Silent	SNP	ENST00000309263.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.29|10.29	1.309438|1.309438	0.23821|0.23821	0.0|0.0	1.16E-4|1.16E-4	ENSG00000175356|ENSG00000175356	ENST00000528651|ENST00000519202	.|.	.|.	.|.	5.34|5.34	-4.26|-4.26	0.03755|0.03755	.|.	.|.	.|.	.|.	.|.	T|T	0.63022|0.63022	0.2476|0.2476	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62455|0.62455	-0.6851|-0.6851	4|4	.|.	.|.	.|.	.|.	14.1903|14.1903	0.65635|0.65635	0.432:0.0:0.568:0.0|0.432:0.0:0.568:0.0	.|.	.|.	.|.	.|.	C|L	37|32	.|.	.|.	R|S	-|-	1|2	0|0	SCUBE2|SCUBE2	9005554|9005554	0.281000|0.281000	0.24258|0.24258	0.964000|0.964000	0.40570|0.40570	0.966000|0.966000	0.64601|0.64601	-0.094000|-0.094000	0.11094|0.11094	-0.887000|-0.887000	0.03961|0.03961	-0.482000|-0.482000	0.04802|0.04802	CGT|TCG		0.572	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000385812.2	NM_020974	
IPO7	10527	broad.mit.edu	37	11	9450680	9450680	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:9450680G>T	ENST00000379719.3	+	14	1670	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	CTD-2371O3.2_ENST00000531111.1_RNA|SNORA23_ENST00000365128.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	510					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.E510*(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGATGATAGAGAAATGCCTGT	0.373																																					p.E510X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1528T	11						.						84.0	82.0	83.0					11																	9450680		2201	4295	6496	9407256	SO:0001587	stop_gained	10527	exon14			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1528G>T	11.37:g.9450680G>T	ENSP00000369042:p.Glu510*		9407256	NM_006391	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Nonsense_Mutation	SNP	ENST00000379719.3	37	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	39	7.845821	0.98522	.	.	ENSG00000205339	ENST00000379719	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	510	.	ENSP00000369042:E510X	E	+	1	0	IPO7	9407256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAA		0.373	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391	
SWAP70	23075	broad.mit.edu	37	11	9750979	9750979	+	Missense_Mutation	SNP	G	G	T	rs555585510		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:9750979G>T	ENST00000318950.6	+	6	982	c.879G>T	c.(877-879)aaG>aaT	p.K293N	SWAP70_ENST00000447399.2_Missense_Mutation_p.K235N	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	293	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Poly-Lys.				isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ATAAGAAGAAGAAACAGGAGT	0.338																																					p.K293N												.	.	0			c.G879T	11						.						80.0	91.0	87.0					11																	9750979		2201	4294	6495	9707555	SO:0001583	missense	23075	exon6			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.879G>T	11.37:g.9750979G>T	ENSP00000315630:p.Lys293Asn		9707555	NM_015055	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830306	0.71258	.	.	ENSG00000133789	ENST00000447399;ENST00000318950;ENST00000534662	T;T;T	0.12147	2.71;2.71;2.71	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	L	0.37750	1.13	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.76575	0.988;0.978;0.964	T	0.00783	-1.1568	10	0.46703	T	0.11	-27.7734	19.4417	0.94823	0.0:0.0:1.0:0.0	.	235;293;235	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	N	235;293;144	ENSP00000399056:K235N;ENSP00000315630:K293N;ENSP00000435587:K144N	ENSP00000315630:K293N	K	+	3	2	SWAP70	9707555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.133000	0.57983	2.598000	0.87819	0.655000	0.94253	AAG		0.338	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055	
SPON1	10418	broad.mit.edu	37	11	14282205	14282205	+	RNA	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:14282205C>T	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA														p.R634*(1)									GAAGGGCATGCGAACCCGACA	0.567																																					p.C634C												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1902T	11						.						90.0	92.0	91.0					11																	14282205		2097	4213	6310	14238781			10418	exon14																															11.37:g.14282205C>T			14238781	NM_006108		Nonsense_Mutation	SNP	ENST00000534587.1	37		.	.	.	.	.	.	.	.	.	.	C	42	9.386748	0.99156	.	.	ENSG00000152268	ENST00000310358	.	.	.	4.88	-0.976	0.10286	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8787	0.70516	0.7424:0.2576:0.0:0.0	.	.	.	.	X	634	.	ENSP00000309297:R634X	R	+	1	2	SPON1	14238781	0.969000	0.33509	0.998000	0.56505	0.993000	0.82548	0.154000	0.16343	-0.035000	0.13691	0.561000	0.74099	CGA		0.567	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1		
SPON1	10418	broad.mit.edu	37	11	14284332	14284332	+	RNA	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:14284332C>T	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA														p.R690*(1)									CCACGTGATTCGAACCCGGAT	0.537																																					p.F690F												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2070T	11						.						66.0	68.0	68.0					11																	14284332		2030	4184	6214	14240908			10418	exon15																															11.37:g.14284332C>T			14240908	NM_006108		Nonsense_Mutation	SNP	ENST00000534587.1	37		.	.	.	.	.	.	.	.	.	.	C	44	10.589459	0.99433	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.93	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.447	0.75238	0.1481:0.8519:0.0:0.0	.	.	.	.	X	690	.	ENSP00000309297:R690X	R	+	1	2	SPON1	14240908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.316000	0.43761	2.815000	0.96918	0.561000	0.74099	CGA		0.537	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1		
CYP2R1	120227	broad.mit.edu	37	11	14907379	14907379	+	Missense_Mutation	SNP	C	C	T	rs61744571		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:14907379C>T	ENST00000334636.5	-	2	356	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Missense_Mutation_p.R7Q	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	104					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.E104K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GCAAAAATTTCGCTTTGATGA	0.348																																					p.E104K	NSCLC(173;1584 2058 26117 29365 41534)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	11						.						132.0	123.0	126.0					11																	14907379		2200	4294	6494	14863955	SO:0001583	missense	120227	exon2			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.310G>A	11.37:g.14907379C>T	ENSP00000334592:p.Glu104Lys		14863955	NM_024514	Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	CCDS7818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.45|19.45	3.830272|3.830272	0.71258|0.71258	.|.	.|.	ENSG00000186104|ENSG00000186104	ENST00000334636|ENST00000532378	T|T	0.68903|0.73681	-0.36|-0.77	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.092863|.	0.64402|.	D|.	0.000001|.	T|T	0.81931|0.81931	0.4927|0.4927	L|L	0.53671|0.53671	1.685|1.685	0.58432|0.58432	D|D	0.999999|0.999999	D|D	0.62365|0.61697	0.991|0.99	P|P	0.51895|0.56474	0.683|0.799	T|T	0.79557|0.79557	-0.1754|-0.1754	10|9	0.72032|0.45353	D|T	0.01|0.12	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	104|7	Q6VVX0|E9PJT9	CP2R1_HUMAN|.	K|Q	104|7	ENSP00000334592:E104K|ENSP00000435484:R7Q	ENSP00000334592:E104K|ENSP00000435484:R7Q	E|R	-|-	1|2	0|0	CYP2R1|CYP2R1	14863955|14863955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.758000|0.758000	0.43043|0.43043	5.999000|5.999000	0.70665|0.70665	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|CGA		0.348	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514	
RPS13	6207	broad.mit.edu	37	11	17098755	17098755	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:17098755A>C	ENST00000525634.1	-	3	256	c.111T>G	c.(109-111)atT>atG	p.I37M	PIK3C2A_ENST00000531428.1_5'Flank|RPS13_ENST00000228140.2_Missense_Mutation_p.I37M|SNORD14A_ENST00000606526.1_RNA|RPS13_ENST00000526895.1_5'UTR|SNORD14B_ENST00000364533.1_RNA			P62277	RS13_HUMAN	ribosomal protein S13	37					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I37M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CCAGTTTGTAAATCTGCTCCT	0.488																																					p.I37M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T111G	11						.						146.0	134.0	138.0					11																	17098755		2200	4294	6494	17055331	SO:0001583	missense	6207	exon3			X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"""S ribosomal proteins"""	10386	protein-coding gene	gene with protein product	"""40S ribosomal protein S13"""	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.111T>G	11.37:g.17098755A>C	ENSP00000435777:p.Ile37Met		17055331	NM_001017	B2R549|P19116|Q02546|Q29200|Q498Y0	Missense_Mutation	SNP	ENST00000525634.1	37	CCDS7823.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547852	0.86022	.	.	ENSG00000110700	ENST00000228140;ENST00000525634;ENST00000533969	T	0.37584	1.19	5.7	4.72	0.59763	Ribosomal protein S13/S15, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	M	0.89414	3.03	0.58432	D	0.999999	B	0.31125	0.309	B	0.40444	0.329	T	0.53563	-0.8421	10	0.66056	D	0.02	-48.67	5.6063	0.17381	0.2176:0.0:0.7824:0.0	.	37	P62277	RS13_HUMAN	M	37	ENSP00000432096:I37M	ENSP00000228140:I37M	I	-	3	3	RPS13	17055331	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.481000	0.73608	1.209000	0.43321	0.460000	0.39030	ATT		0.488	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387320.2	NM_001017	
KCNC1	3746	broad.mit.edu	37	11	17757687	17757687	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:17757687C>T	ENST00000379472.3	+	1	168	c.138C>T	c.(136-138)ttC>ttT	p.F46F	KCNC1_ENST00000265969.6_Silent_p.F46F	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	46					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.F46F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	ACAGCCACTTCGACTATGACC	0.697																																					p.F46F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C138T	11						.						37.0	30.0	32.0					11																	17757687		2200	4292	6492	17714263	SO:0001819	synonymous_variant	3746	exon1			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.138C>T	11.37:g.17757687C>T			17714263	NM_004976	K4DI87	Silent	SNP	ENST00000379472.3	37	CCDS7827.1																																																																																				0.697	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976	
SAA4	6291	broad.mit.edu	37	11	18253056	18253056	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:18253056T>G	ENST00000278222.4	-	4	566	c.386A>C	c.(385-387)aAa>aCa	p.K129T	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	129					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)		p.K129T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						AGCTCAGTATTTCTTAGGCAG	0.577																																					p.K129T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A386C	11						.						114.0	113.0	113.0					11																	18253056		2199	4293	6492	18209632	SO:0001583	missense	6291	exon4			M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.386A>C	11.37:g.18253056T>G	ENSP00000278222:p.Lys129Thr		18209632	NM_006512	Q6FHJ4	Missense_Mutation	SNP	ENST00000278222.4	37	CCDS7832.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.434365	0.43224	.	.	ENSG00000148965	ENST00000278222	T	0.14640	2.49	3.26	0.82	0.18793	.	.	.	.	.	T	0.17534	0.0421	M	0.76938	2.355	0.09310	N	1	P	0.42456	0.78	B	0.41135	0.348	T	0.13602	-1.0503	9	0.87932	D	0	-2.5162	5.1824	0.15167	0.0:0.2712:0.0:0.7288	.	129	P35542	SAA4_HUMAN	T	129	ENSP00000278222:K129T	ENSP00000278222:K129T	K	-	2	0	SAA4	18209632	0.470000	0.25854	0.000000	0.03702	0.001000	0.01503	2.438000	0.44837	-0.060000	0.13132	-0.456000	0.05471	AAA		0.577	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512	
TMEM86A	144110	broad.mit.edu	37	11	18723211	18723211	+	Silent	SNP	G	G	A	rs146633157		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:18723211G>A	ENST00000280734.2	+	3	474	c.378G>A	c.(376-378)gcG>gcA	p.A126A	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	126						integral component of membrane (GO:0016021)		p.A126A(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TGATGGCAGCGCTGTCGGGCC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17402	0.001		0.0	False		,,,				2504	0.0				p.A126A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G378A	11						.						98.0	85.0	90.0					11																	18723211		2199	4293	6492	18679787	SO:0001819	synonymous_variant	144110	exon3			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.378G>A	11.37:g.18723211G>A			18679787	NM_153347	Q96AJ0	Silent	SNP	ENST00000280734.2	37	CCDS7844.1																																																																																				0.607	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347	
MRGPRX1	259249	broad.mit.edu	37	11	18956168	18956168	+	Missense_Mutation	SNP	C	C	T	rs55954376	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:18956168C>T	ENST00000302797.3	-	1	388	c.164G>A	c.(163-165)cGc>cAc	p.R55H	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	55					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R55H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGCGCATGCGGCAGCCCAG	0.562																																					p.R55H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164A	11						.						147.0	141.0	143.0					11																	18956168		2194	4286	6480	18912744	SO:0001583	missense	259249	exon1				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.164G>A	11.37:g.18956168C>T	ENSP00000305766:p.Arg55His		18912744	NM_147199	Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	5.930	0.355555	0.11239	.	.	ENSG00000170255	ENST00000302797	T	0.08720	3.06	2.43	0.394	0.16299	GPCR, rhodopsin-like superfamily (1);	0.331940	0.27198	N	0.020476	T	0.06096	0.0158	L	0.41124	1.26	0.09310	N	1	B	0.29481	0.245	B	0.27380	0.079	T	0.29792	-1.0000	10	0.41790	T	0.15	.	5.3618	0.16091	0.0:0.576:0.0:0.424	.	55	Q96LB2	MRGX1_HUMAN	H	55	ENSP00000305766:R55H	ENSP00000305766:R55H	R	-	2	0	MRGPRX1	18912744	0.000000	0.05858	0.234000	0.24042	0.070000	0.16714	-1.566000	0.02148	0.103000	0.17682	0.491000	0.48974	CGC		0.562	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199	
MRGPRX1	259249	broad.mit.edu	37	11	18956301	18956301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:18956301C>A	ENST00000302797.3	-	1	255	c.31G>T	c.(31-33)Gaa>Taa	p.E11*	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	11					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E11*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTGTCAGTTCTGTGTCCAAG	0.512																																					p.E11X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G31T	11						.						273.0	259.0	264.0					11																	18956301		2194	4286	6480	18912877	SO:0001587	stop_gained	259249	exon1				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.31G>T	11.37:g.18956301C>A	ENSP00000305766:p.Glu11*		18912877	NM_147199	Q4V9L2|Q8TDD8|Q8TDD9	Nonsense_Mutation	SNP	ENST00000302797.3	37	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	13.93	2.382923	0.42207	.	.	ENSG00000170255	ENST00000302797	.	.	.	2.06	-4.13	0.03904	.	1.831430	0.02407	N	0.081298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	2.1164	0.03714	0.1237:0.2804:0.124:0.472	.	.	.	.	X	11	.	ENSP00000305766:E11X	E	-	1	0	MRGPRX1	18912877	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.399000	0.02506	-2.622000	0.00439	-2.015000	0.00435	GAA		0.512	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199	
DBX1	120237	broad.mit.edu	37	11	20180780	20180780	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:20180780G>A	ENST00000524983.2	-	2	714	c.426C>T	c.(424-426)ttC>ttT	p.F142F	DBX1_ENST00000227256.3_Silent_p.F142F			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	142					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.F142F(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AAGACCCTTCGAAGTAGGGAA	0.602																																					p.F142F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C426T	11						.						135.0	129.0	131.0					11																	20180780		2203	4300	6503	20137356	SO:0001819	synonymous_variant	120237	exon2					11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.426C>T	11.37:g.20180780G>A			20137356	NM_001029865		Silent	SNP	ENST00000524983.2	37																																																																																					0.602	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865	
GAS2	2620	broad.mit.edu	37	11	22696508	22696508	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:22696508T>G	ENST00000454584.2	+	2	398	c.93T>G	c.(91-93)gcT>gcG	p.A31A	GAS2_ENST00000433790.1_Silent_p.A31A|GAS2_ENST00000278187.3_Silent_p.A31A|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	31					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)		p.A31A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GACATGAAGCTAATTTGCTAC	0.418																																					p.A31A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T93G	11						.						95.0	92.0	93.0					11																	22696508		2203	4300	6503	22653084	SO:0001819	synonymous_variant	2620	exon2			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.93T>G	11.37:g.22696508T>G			22653084	NM_001143830	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Silent	SNP	ENST00000454584.2	37	CCDS7858.1																																																																																				0.418	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	
LUZP2	338645	broad.mit.edu	37	11	24750779	24750779	+	Missense_Mutation	SNP	C	C	T	rs150458536		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:24750779C>T	ENST00000336930.6	+	2	193	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	43						extracellular region (GO:0005576)		p.R43C(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CACCATTCTTCGTCAGCTGAC	0.433																																					p.R43C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C127T	11						.						72.0	74.0	73.0					11																	24750779		2203	4299	6502	24707355	SO:0001583	missense	338645	exon2			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.127C>T	11.37:g.24750779C>T	ENSP00000336817:p.Arg43Cys		24707355	NM_001009909	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213819	0.58452	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T;T	0.24350	1.86;1.86	5.99	4.07	0.47477	.	0.255939	0.37955	N	0.001873	T	0.36303	0.0962	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	P	0.59703	0.862	T	0.13124	-1.0521	10	0.72032	D	0.01	-2.4796	9.493	0.38971	0.1421:0.7825:0.0:0.0754	.	43	Q86TE4	LUZP2_HUMAN	C	43	ENSP00000336817:R43C;ENSP00000437032:R43C	ENSP00000336817:R43C	R	+	1	0	LUZP2	24707355	0.999000	0.42202	0.995000	0.50966	0.981000	0.71138	3.432000	0.52824	1.552000	0.49463	0.655000	0.94253	CGT		0.433	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
CCDC34	91057	broad.mit.edu	37	11	27371844	27371844	+	Intron	SNP	G	G	T	rs200130322		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:27371844G>T	ENST00000328697.6	-	3	1280				CCDC34_ENST00000529615.1_Intron|CCDC34_ENST00000317945.6_Missense_Mutation_p.S214Y	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34									p.S214Y(1)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TTGCAAAAGAGATGTCAATGT	0.323																																					p.S214Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C641A	11						.						237.0	220.0	226.0					11																	27371844		2201	4299	6500	27328420	SO:0001627	intron_variant	91057	exon3			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.606+34C>A	11.37:g.27371844G>T			27328420	NM_080654	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727512	0.48833	.	.	ENSG00000109881	ENST00000317945	T	0.35236	1.32	5.06	1.63	0.23807	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.09310	N	1	P	0.39782	0.688	B	0.43701	0.428	T	0.26395	-1.0104	8	0.87932	D	0	.	3.6116	0.08062	0.3539:0.1879:0.4581:0.0	.	214	Q96HJ3-2	.	Y	214	ENSP00000321563:S214Y	ENSP00000321563:S214Y	S	-	2	0	CCDC34	27328420	0.112000	0.22096	0.039000	0.18376	0.165000	0.22458	0.834000	0.27518	0.647000	0.30713	0.591000	0.81541	TCT		0.323	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771	
KIF18A	81930	broad.mit.edu	37	11	28119446	28119446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:28119446G>A	ENST00000263181.6	-	2	339	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.R17C(3)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GGACGTACACGAACTACTACT	0.363																																					p.R17C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C49T	11						.						166.0	158.0	161.0					11																	28119446		2202	4299	6501	28076022	SO:0001583	missense	81930	exon2			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.49C>T	11.37:g.28119446G>A	ENSP00000263181:p.Arg17Cys		28076022	NM_031217	Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537380	0.85917	.	.	ENSG00000121621	ENST00000263181	D	0.86694	-2.16	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98173	1.0453	10	0.87932	D	0	.	19.823	0.96605	0.0:0.0:1.0:0.0	.	17;17	B2R6H3;Q8NI77	.;KI18A_HUMAN	C	17	ENSP00000263181:R17C	ENSP00000263181:R17C	R	-	1	0	KIF18A	28076022	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.205000	0.77881	2.770000	0.95276	0.650000	0.86243	CGT		0.363	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	NM_031217	
KCNA4	3739	broad.mit.edu	37	11	30033961	30033961	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:30033961G>A	ENST00000328224.6	-	2	1498	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	89					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.R89W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TTCTCAGACCGCTGTCGCCTC	0.632																																					p.R89W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265T	11						.						43.0	46.0	45.0					11																	30033961		2070	4211	6281	29990537	SO:0001583	missense	3739	exon2			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.265C>T	11.37:g.30033961G>A	ENSP00000328511:p.Arg89Trp		29990537	NM_002233		Missense_Mutation	SNP	ENST00000328224.6	37	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	9.117	1.008065	0.19199	.	.	ENSG00000182255	ENST00000328224	D	0.97016	-4.21	4.84	1.9	0.25705	.	.	.	.	.	D	0.92244	0.7540	N	0.19112	0.55	0.09310	N	1	D	0.57899	0.981	P	0.47134	0.539	D	0.85450	0.1160	9	0.66056	D	0.02	.	7.1395	0.25548	0.0828:0.0:0.6166:0.3006	.	89	P22459	KCNA4_HUMAN	W	89	ENSP00000328511:R89W	ENSP00000328511:R89W	R	-	1	2	KCNA4	29990537	0.171000	0.23029	0.001000	0.08648	0.065000	0.16274	1.679000	0.37597	0.107000	0.17824	-0.254000	0.11334	CGG		0.632	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
DCDC1	341019	broad.mit.edu	37	11	31349758	31349758	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:31349758C>T	ENST00000452803.1	-	3	271	c.70G>A	c.(70-72)Gca>Aca	p.A24T	DCDC1_ENST00000597505.1_Missense_Mutation_p.A24T	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	24					intracellular signal transduction (GO:0035556)			p.A24T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ACTTCCATTGCTTCAGTCAAG	0.358																																					p.A24T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70A	11						.						110.0	102.0	104.0					11																	31349758		2202	4299	6501	31306334	SO:0001583	missense	341019	exon3			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.70G>A	11.37:g.31349758C>T	ENSP00000389792:p.Ala24Thr		31306334	NM_181807	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	c	5.615	0.298117	0.10622	.	.	ENSG00000188682	ENST00000452803	T	0.46063	0.88	4.84	-7.48	0.01360	.	2.126880	0.02108	N	0.054570	T	0.21631	0.0521	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10543	-1.0625	10	0.18276	T	0.48	.	2.3607	0.04307	0.1004:0.3393:0.1981:0.3622	.	24	P59894	DCDC1_HUMAN	T	24	ENSP00000389792:A24T	ENSP00000343496:A24T	A	-	1	0	DCDC1	31306334	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.536000	0.06135	-1.760000	0.01312	-1.069000	0.02264	GCA		0.358	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807	
EIF3M	10480	broad.mit.edu	37	11	32615462	32615462	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:32615462A>G	ENST00000531120.1	+	6	647	c.584A>G	c.(583-585)gAc>gGc	p.D195G	EIF3M_ENST00000524896.1_Missense_Mutation_p.D63G	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M									p.D195G(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TACACAGAGGACAATGCTTCC	0.393																																					p.D195G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A584G	11						.						130.0	115.0	120.0					11																	32615462		2202	4299	6501	32572038	SO:0001583	missense	10480	exon6			AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.584A>G	11.37:g.32615462A>G	ENSP00000436049:p.Asp195Gly		32572038	NM_006360		Missense_Mutation	SNP	ENST00000531120.1	37	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	A	33	5.273808	0.95459	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000323213;ENST00000526267	T;T;T;T	0.48522	1.22;0.81;1.22;0.84	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.59436	1.845	0.80722	D	1	P;D	0.63880	0.949;0.993	P;D	0.74674	0.554;0.984	T	0.58741	-0.7583	10	0.23302	T	0.38	-21.2498	16.6277	0.84984	1.0:0.0:0.0:0.0	.	63;195	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	G	195;63;132;36	ENSP00000436049:D195G;ENSP00000436787:D63G;ENSP00000319910:D132G;ENSP00000432139:D36G	ENSP00000319910:D132G	D	+	2	0	EIF3M	32572038	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	8.928000	0.92853	2.330000	0.79161	0.528000	0.53228	GAC		0.393	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360	
CCDC73	493860	broad.mit.edu	37	11	32635617	32635617	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:32635617A>G	ENST00000335185.5	-	16	2290	c.2247T>C	c.(2245-2247)tgT>tgC	p.C749C	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	749								p.C749C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCATATTTTTACACATAGTTT	0.333																																					p.C749C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2247C	11						.						100.0	90.0	93.0					11																	32635617		1804	4069	5873	32592193	SO:0001819	synonymous_variant	493860	exon16			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2247T>C	11.37:g.32635617A>G			32592193	NM_001008391	Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	CCDS41630.1																																																																																				0.333	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
DEPDC7	91614	broad.mit.edu	37	11	33054826	33054826	+	Missense_Mutation	SNP	G	G	T	rs374445520		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:33054826G>T	ENST00000241051.3	+	9	1453	c.1361G>T	c.(1360-1362)aGa>aTa	p.R454I	DEPDC7_ENST00000311388.3_Missense_Mutation_p.R445I	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	454					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)		p.R445I(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TATTGCCAGAGAATTGATCAA	0.308																																					p.R445I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1334T	11						.	G	ILE/ARG,ILE/ARG	0,3626		0,0,1813	57.0	56.0	56.0		1361,1334	5.3	1.0	11		56	1,8131		0,1,4065	no	missense,missense	DEPDC7	NM_001077242.1,NM_139160.2	97,97	0,1,5878	TT,TG,GG		0.0123,0.0,0.0085	probably-damaging,probably-damaging	454/512,445/503	33054826	1,11757	1813	4066	5879	33011402	SO:0001583	missense	91614	exon9				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.1361G>T	11.37:g.33054826G>T	ENSP00000241051:p.Arg454Ile		33011402	NM_139160	G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	ENST00000241051.3	37	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362789	0.61403	0.0	1.23E-4	ENSG00000121690	ENST00000241051;ENST00000311388	D;D	0.83992	-1.79;-1.79	5.33	5.33	0.75918	.	0.045148	0.85682	D	0.000000	D	0.88213	0.6376	M	0.76002	2.32	0.54753	D	0.999989	D;D	0.59357	0.985;0.966	P;P	0.56823	0.807;0.641	D	0.89024	0.3437	10	0.66056	D	0.02	-12.7051	13.169	0.59587	0.0836:0.0:0.9164:0.0	.	445;454	G5E941;Q96QD5	.;DEPD7_HUMAN	I	454;445	ENSP00000241051:R454I;ENSP00000308971:R445I	ENSP00000241051:R454I	R	+	2	0	DEPDC7	33011402	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.697000	0.74603	2.647000	0.89833	0.460000	0.39030	AGA		0.308	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	NM_139160	
KIAA1549L	25758	broad.mit.edu	37	11	33566810	33566810	+	Nonsense_Mutation	SNP	C	C	T	rs551017269	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:33566810C>T	ENST00000321505.4	+	2	2560	c.2380C>T	c.(2380-2382)Cga>Tga	p.R794*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.R800*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.R800*			Q6ZVL6	K154L_HUMAN	KIAA1549-like	794						integral component of membrane (GO:0016021)		p.R800*(1)|p.R794*(1)									GCCACCATTGCGAGCAGAAAA	0.582																																					p.R794X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2380T	11						.						60.0	73.0	69.0					11																	33566810		2173	4277	6450	33523386	SO:0001587	stop_gained	25758	exon2			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2380C>T	11.37:g.33566810C>T	ENSP00000315295:p.Arg794*		33523386	NM_012194	B0QYU0	Nonsense_Mutation	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	38	6.891037	0.97912	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.81	4.88	0.63580	.	1.010830	0.07930	N	0.977405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	0.4452	9.2525	0.37564	0.0:0.7757:0.1447:0.0796	.	.	.	.	X	794;800;800;633	.	ENSP00000265654:R800X	R	+	1	2	C11orf41	33523386	0.003000	0.15002	0.003000	0.11579	0.099000	0.18886	1.761000	0.38440	1.422000	0.47177	0.561000	0.74099	CGA		0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
SLC1A2	6506	broad.mit.edu	37	11	35338925	35338925	+	Splice_Site	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:35338925A>G	ENST00000278379.3	-	2	438	c.156T>C	c.(154-156)ttT>ttC	p.F52F	SLC1A2_ENST00000606205.1_Splice_Site_p.F52F|SLC1A2_ENST00000395753.1_Splice_Site_p.F43F|SLC1A2_ENST00000395750.1_Splice_Site_p.F43F	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	52					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.F52F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GGTACCTACCAAACACCGTCA	0.617																																					p.F52F	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T156C	11						.						76.0	75.0	75.0					11																	35338925		2202	4298	6500	35295501	SO:0001630	splice_region_variant	6506	exon2			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.157+1T>C	11.37:g.35338925A>G			35295501	NM_004171	B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	CCDS31459.1																																																																																				0.617	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171	Silent
PAMR1	25891	broad.mit.edu	37	11	35453964	35453964	+	Silent	SNP	G	G	A	rs376946825		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:35453964G>A	ENST00000378880.2	-	11	2548	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	PAMR1_ENST00000378878.3_Silent_p.L590L|PAMR1_ENST00000532848.1_Silent_p.L661L|PAMR1_ENST00000278360.3_Silent_p.L718L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	701	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.L718L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGGCAGTGGAGAGCCTGTGGC	0.502																																					p.L701L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2103T	11						.	G	,	0,4404		0,0,2202	106.0	99.0	101.0		2103,2154	1.2	1.0	11		101	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	PAMR1	NM_001001991.1,NM_015430.2	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	701/721,718/738	35453964	1,12999	2202	4298	6500	35410540	SO:0001819	synonymous_variant	25891	exon11				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.2103C>T	11.37:g.35453964G>A			35410540	NM_001001991	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	CCDS31460.1																																																																																				0.502	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
PAMR1	25891	broad.mit.edu	37	11	35454083	35454083	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:35454083T>C	ENST00000378880.2	-	11	2429	c.1984A>G	c.(1984-1986)Act>Gct	p.T662A	PAMR1_ENST00000378878.3_Missense_Mutation_p.T551A|PAMR1_ENST00000532848.1_Missense_Mutation_p.T622A|PAMR1_ENST00000278360.3_Missense_Mutation_p.T679A	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	662	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.T679A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTCTCTGCAGTGCAGATATCA	0.572																																					p.T662A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1984G	11						.						79.0	71.0	73.0					11																	35454083		2202	4298	6500	35410659	SO:0001583	missense	25891	exon11				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1984A>G	11.37:g.35454083T>C	ENSP00000368158:p.Thr662Ala		35410659	NM_001001991	A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	T	5.771	0.326682	0.10900	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	5.34	4.3	0.51218	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.262756	0.44688	D	0.000422	T	0.76004	0.3927	N	0.11845	0.185	0.38967	D	0.95866	B;B;B	0.25609	0.13;0.019;0.015	B;B;B	0.21546	0.035;0.023;0.022	T	0.74343	-0.3696	10	0.87932	D	0	.	11.4784	0.50312	0.0:0.0:0.581:0.419	.	551;662;679	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	A	679;662;551;622;639	ENSP00000278360:T679A;ENSP00000368158:T662A;ENSP00000368156:T551A;ENSP00000433868:T622A;ENSP00000432591:T639A	ENSP00000278360:T679A	T	-	1	0	PAMR1	35410659	1.000000	0.71417	0.901000	0.35422	0.432000	0.31715	5.237000	0.65360	1.036000	0.39998	0.459000	0.35465	ACT		0.572	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
RAG1	5896	broad.mit.edu	37	11	36597544	36597544	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:36597544G>A	ENST00000299440.5	+	2	2802	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	897					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R897Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCAGTATGGCGATCATCATGC	0.483									Familial Hemophagocytic Lymphohistiocytosis																												p.R897Q	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2690A	11						.						138.0	129.0	132.0					11																	36597544		2202	4298	6500	36554120	SO:0001583	missense	5896	exon2	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2690G>A	11.37:g.36597544G>A	ENSP00000299440:p.Arg897Gln		36554120	NM_000448	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806636	0.50421	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.91464	-2.85;-2.85	5.94	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.96719	0.8929	H	0.94964	3.605	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.97887	1.0295	10	0.87932	D	0	.	17.1461	0.86767	0.0:0.1263:0.8737:0.0	.	897	P15918	RAG1_HUMAN	Q	897	ENSP00000434610:R897Q;ENSP00000299440:R897Q	ENSP00000299440:R897Q	R	+	2	0	RAG1	36554120	1.000000	0.71417	0.203000	0.23512	0.028000	0.11728	9.476000	0.97823	1.491000	0.48482	0.644000	0.83932	CGA		0.483	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
ACCS	84680	broad.mit.edu	37	11	44104857	44104857	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:44104857G>T	ENST00000263776.8	+	13	1684	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	417					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.R417I(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GTTGACTTGAGAAAGGTAATG	0.582																																					p.R417I	Esophageal Squamous(158;148 1889 8077 23160 41213)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1250T	11						.						86.0	79.0	82.0					11																	44104857		2203	4300	6503	44061433	SO:0001583	missense	84680	exon13			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1250G>T	11.37:g.44104857G>T	ENSP00000263776:p.Arg417Ile		44061433	NM_032592	B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320595	0.81469	.	.	ENSG00000110455	ENST00000263776	T	0.24350	1.86	5.7	4.79	0.61399	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.101565	0.64402	D	0.000002	T	0.50257	0.1605	M	0.90082	3.085	0.80722	D	1	B	0.31026	0.304	P	0.45167	0.472	T	0.57619	-0.7780	10	0.87932	D	0	-6.2183	14.2623	0.66092	0.0721:0.0:0.9279:0.0	.	417	Q96QU6	1A1L1_HUMAN	I	417	ENSP00000263776:R417I	ENSP00000263776:R417I	R	+	2	0	ACCS	44061433	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	7.404000	0.79996	1.406000	0.46857	0.511000	0.50034	AGA		0.582	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	
TSPAN18	90139	broad.mit.edu	37	11	44928021	44928021	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:44928021C>A	ENST00000520358.2	+	4	469	c.54C>A	c.(52-54)ttC>ttA	p.F18L	TSPAN18_ENST00000340160.3_Missense_Mutation_p.F18L			Q96SJ8	TSN18_HUMAN	tetraspanin 18	18						integral component of membrane (GO:0016021)		p.F18L(1)		endometrium(1)|large_intestine(6)|lung(3)	10						TATTCAATTTCTTCATATTTG	0.512																																					p.F18L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C54A	11						.						220.0	198.0	205.0					11																	44928021		2203	4299	6502	44884597	SO:0001583	missense	90139	exon3			AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.54C>A	11.37:g.44928021C>A	ENSP00000429993:p.Phe18Leu		44884597	NM_130783	Q6UY44|Q8NBI9	Missense_Mutation	SNP	ENST00000520358.2	37	CCDS7910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.79|13.79	2.342501|2.342501	0.41498|0.41498	.|.	.|.	ENSG00000157570|ENSG00000157570	ENST00000533786;ENST00000533202;ENST00000533080;ENST00000520358;ENST00000520999;ENST00000340160;ENST00000520837|ENST00000518429	T;T;T;T;T;T;T|.	0.78595|.	-1.19;-1.19;2.58;-1.19;-1.19;-1.19;-1.19|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58623|0.58623	0.2135|0.2135	L|L	0.42529|0.42529	1.33|1.33	0.80722|0.80722	D|D	1|1	B;D|.	0.54964|.	0.374;0.969|.	B;P|.	0.54664|.	0.194;0.758|.	T|T	0.54255|0.54255	-0.8321|-0.8321	10|5	0.07030|.	T|.	0.85|.	.|.	12.2329|12.2329	0.54499|0.54499	0.0:0.877:0.0:0.123|0.0:0.877:0.0:0.123	.|.	18;18|.	Q8WUV1;Q96SJ8|.	.;TSN18_HUMAN|.	L|I	18;18;18;18;28;18;28|22	ENSP00000433592:F18L;ENSP00000434625:F18L;ENSP00000433362:F18L;ENSP00000429993:F18L;ENSP00000427942:F28L;ENSP00000339820:F18L;ENSP00000430343:F28L|.	ENSP00000339820:F18L|.	F|L	+|+	3|1	2|0	TSPAN18|TSPAN18	44884597|44884597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	3.277000|3.277000	0.51654|0.51654	2.607000|2.607000	0.88179|0.88179	0.561000|0.561000	0.74099|0.74099	TTC|CTT		0.512	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783	
ZNF408	79797	broad.mit.edu	37	11	46726595	46726595	+	Missense_Mutation	SNP	C	C	T	rs373245310		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:46726595C>T	ENST00000311764.2	+	5	1575	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R449W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTGCCCGCCGGCCCTCCCT	0.672																																					p.R449W	Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1345T	11						.	C	TRP/ARG,TRP/ARG	0,4402		0,0,2201	41.0	42.0	42.0		1321,1345	4.7	1.0	11		42	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	ZNF408	NM_001184751.1,NM_024741.2	101,101	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	441/713,449/721	46726595	1,12999	2201	4299	6500	46683171	SO:0001583	missense	79797	exon5			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1345C>T	11.37:g.46726595C>T	ENSP00000309606:p.Arg449Trp		46683171	NM_024741		Missense_Mutation	SNP	ENST00000311764.2	37	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036858	0.75617	0.0	1.16E-4	ENSG00000175213	ENST00000311764	T	0.11604	2.76	5.68	4.71	0.59529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001061	T	0.06645	0.0170	N	0.19112	0.55	0.45139	D	0.99815	D;D	0.59357	0.985;0.985	B;B	0.37304	0.246;0.246	T	0.14615	-1.0466	10	0.56958	D	0.05	-32.9394	11.629	0.51162	0.0:0.8057:0.1253:0.069	.	441;449	B4DXY4;Q9H9D4	.;ZN408_HUMAN	W	449	ENSP00000309606:R449W	ENSP00000309606:R449W	R	+	1	2	ZNF408	46683171	0.991000	0.36638	1.000000	0.80357	0.941000	0.58515	1.714000	0.37961	2.838000	0.97847	0.563000	0.77884	CGG		0.672	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2	NM_024741	
CKAP5	9793	broad.mit.edu	37	11	46832601	46832601	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:46832601G>A	ENST00000529230.1	-	5	632	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	CKAP5_ENST00000415402.1_Missense_Mutation_p.R196W|CKAP5_ENST00000312055.5_Missense_Mutation_p.R196W|CKAP5_ENST00000354558.3_Missense_Mutation_p.R196W			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	196					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.R196W(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						AGAGCATCCCGAATCCATCTG	0.388																																					p.R196W	Ovarian(4;85 273 2202 4844 13323)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C586T	11						.						92.0	89.0	90.0					11																	46832601		2201	4299	6500	46789177	SO:0001583	missense	9793	exon5				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.586C>T	11.37:g.46832601G>A	ENSP00000432768:p.Arg196Trp		46789177	NM_001008938	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005847	0.74932	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.85	4.92	0.64577	Armadillo-like helical (1);Armadillo-type fold (1);	0.050085	0.85682	D	0.000000	T	0.64516	0.2605	M	0.69358	2.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.95;0.95;0.977	T	0.67673	-0.5610	10	0.87932	D	0	-8.2641	11.2911	0.49250	0.0:0.1158:0.7076:0.1765	.	196;196;196	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	W	196	ENSP00000432768:R196W;ENSP00000395302:R196W;ENSP00000310227:R196W;ENSP00000346566:R196W	ENSP00000310227:R196W	R	-	1	2	CKAP5	46789177	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.728000	0.62000	1.434000	0.47414	0.563000	0.77884	CGG		0.388	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	
LRP4	4038	broad.mit.edu	37	11	46912037	46912037	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:46912037T>G	ENST00000378623.1	-	14	1948	c.1706A>C	c.(1705-1707)tAc>tCc	p.Y569S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	569					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.Y569S(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTCTGTCCAGTAAATGGTACT	0.507											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Y569S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1706C	11						.						28.0	29.0	28.0					11																	46912037		2201	4299	6500	46868613	SO:0001583	missense	4038	exon14			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1706A>C	11.37:g.46912037T>G	ENSP00000367888:p.Tyr569Ser	942	46868613	NM_002334	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.786880	0.90367	.	.	ENSG00000134569	ENST00000378623	D	0.99304	-5.72	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98266	1.0501	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	569	O75096	LRP4_HUMAN	S	569	ENSP00000367888:Y569S	ENSP00000367888:Y569S	Y	-	2	0	LRP4	46868613	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.153000	0.71819	2.308000	0.77769	0.533000	0.62120	TAC		0.507	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	
AGBL2	79841	broad.mit.edu	37	11	47684584	47684584	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:47684584T>G	ENST00000525123.1	-	18	2814	c.2529A>C	c.(2527-2529)agA>agC	p.R843S	AGBL2_ENST00000357610.3_Missense_Mutation_p.R845S|AGBL2_ENST00000298861.4_Missense_Mutation_p.R843S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	843						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R843S(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTACCTGCATTCTCCCTTTAT	0.363																																					p.R843S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2529C	11						.						132.0	140.0	138.0					11																	47684584		2201	4298	6499	47641160	SO:0001583	missense	79841	exon17				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2529A>C	11.37:g.47684584T>G	ENSP00000435582:p.Arg843Ser		47641160	NM_024783	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639145	0.29157	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861	T;T;T	0.10288	2.89;2.89;2.89	4.71	2.21	0.28008	.	0.701758	0.12564	N	0.457898	T	0.09730	0.0239	L	0.51422	1.61	0.09310	N	1	B	0.26672	0.156	B	0.19666	0.026	T	0.28299	-1.0048	10	0.44086	T	0.13	-1.5162	5.4845	0.16741	0.1731:0.0:0.1804:0.6465	.	843	Q5U5Z8	CBPC2_HUMAN	S	226;843;845;843	ENSP00000435582:R843S;ENSP00000350228:R845S;ENSP00000298861:R843S	ENSP00000298861:R843S	R	-	3	2	AGBL2	47641160	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.001000	0.12947	0.316000	0.23135	0.528000	0.53228	AGA		0.363	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	
OR4X2	119764	broad.mit.edu	37	11	48267343	48267343	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:48267343T>C	ENST00000302329.3	+	1	736	c.688T>C	c.(688-690)Tcc>Ccc	p.S230P		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230P(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAAGCCCTCTCCACCTGTGG	0.522																																					p.S230P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T688C	11						.						120.0	104.0	110.0					11																	48267343		2201	4298	6499	48223919	SO:0001583	missense	119764	exon1			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.688T>C	11.37:g.48267343T>C	ENSP00000307751:p.Ser230Pro		48223919	NM_001004727	B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851926	0.51270	.	.	ENSG00000172208	ENST00000302329	T	0.00309	8.16	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.01156	0.0038	H	0.96996	3.92	0.25543	N	0.987168	D	0.89917	1.0	D	0.91635	0.999	T	0.16541	-1.0399	10	0.87932	D	0	.	13.1195	0.59318	0.0:0.0:0.0:1.0	.	230	Q8NGF9	OR4X2_HUMAN	P	230	ENSP00000307751:S230P	ENSP00000307751:S230P	S	+	1	0	OR4X2	48223919	0.050000	0.20438	0.995000	0.50966	0.700000	0.40528	0.458000	0.21892	1.972000	0.57404	0.528000	0.53228	TCC		0.522	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727	
OR4X1	390113	broad.mit.edu	37	11	48285489	48285489	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:48285489C>A	ENST00000320048.1	+	1	77	c.77C>A	c.(76-78)tCt>tAt	p.S26Y		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S26Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						AGGGTCATTTCTGTGATGTTT	0.463																																					p.S26Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C77A	11						.						172.0	157.0	162.0					11																	48285489		2201	4298	6499	48242065	SO:0001583	missense	390113	exon1			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.77C>A	11.37:g.48285489C>A	ENSP00000321506:p.Ser26Tyr		48242065	NM_001004726	Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	C	4.264	0.048004	0.08243	.	.	ENSG00000176567	ENST00000320048	T	0.02787	4.16	4.05	-0.0437	0.13858	.	.	.	.	.	T	0.02688	0.0081	L	0.29908	0.895	0.23550	N	0.997433	B	0.28439	0.212	B	0.30316	0.114	T	0.44097	-0.9350	9	0.87932	D	0	.	6.8012	0.23752	0.0:0.4444:0.0:0.5556	.	26	Q8NH49	OR4X1_HUMAN	Y	26	ENSP00000321506:S26Y	ENSP00000321506:S26Y	S	+	2	0	OR4X1	48242065	0.007000	0.16637	0.047000	0.18901	0.018000	0.09664	0.196000	0.17176	0.103000	0.17682	-0.222000	0.12452	TCT		0.463	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726	
OR4S1	256148	broad.mit.edu	37	11	48328629	48328629	+	Silent	SNP	T	T	C	rs373514252		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:48328629T>C	ENST00000319988.1	+	1	855	c.855T>C	c.(853-855)taT>taC	p.Y285Y		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y285Y(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTTTGATCTATACACTAAGGA	0.453																																					p.Y285Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T855C	11						.	T		1,4401	2.1+/-5.4	0,1,2200	110.0	99.0	103.0		855	-2.3	0.0	11		103	0,8596		0,0,4298	no	coding-synonymous	OR4S1	NM_001004725.1		0,1,6498	CC,CT,TT		0.0,0.0227,0.0077		285/310	48328629	1,12997	2201	4298	6499	48285205	SO:0001819	synonymous_variant	256148	exon1			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.855T>C	11.37:g.48328629T>C			48285205	NM_001004725	Q6IFB4	Silent	SNP	ENST00000319988.1	37	CCDS31488.1																																																																																				0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725	
FOLH1	2346	broad.mit.edu	37	11	49175978	49175978	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:49175978T>G	ENST00000256999.2	-	16	1950	c.1690A>C	c.(1690-1692)Aag>Cag	p.K564Q	FOLH1_ENST00000340334.7_Missense_Mutation_p.K549Q|FOLH1_ENST00000356696.3_Missense_Mutation_p.K564Q|FOLH1_ENST00000533034.1_Missense_Mutation_p.K549Q|FOLH1_ENST00000343844.4_Missense_Mutation_p.K256Q	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	564	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.K564Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TCATAAAACTTTTCCACCAAC	0.393																																					p.K549Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1645C	11						.						44.0	41.0	42.0					11																	49175978		2200	4277	6477	49132554	SO:0001583	missense	2346	exon17			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1690A>C	11.37:g.49175978T>G	ENSP00000256999:p.Lys564Gln		49132554	NM_001193471	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.497652	0.26861	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	3.63	3.63	0.41609	.	0.118074	0.40554	N	0.001071	T	0.37156	0.0993	L	0.50333	1.59	0.30533	N	0.767186	B;B;B;B	0.22211	0.065;0.004;0.066;0.004	B;B;B;B	0.26770	0.073;0.004;0.033;0.002	T	0.42882	-0.9425	10	0.49607	T	0.09	.	10.4876	0.44731	0.0:0.0:0.0:1.0	.	549;549;564;564	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	Q	564;564;549;256;549	ENSP00000256999:K564Q;ENSP00000349129:K564Q;ENSP00000344131:K549Q;ENSP00000344086:K256Q;ENSP00000431463:K549Q	ENSP00000256999:K564Q	K	-	1	0	FOLH1	49132554	0.863000	0.29885	1.000000	0.80357	0.969000	0.65631	1.523000	0.35932	1.664000	0.50801	0.338000	0.21704	AAG		0.393	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
OR4A5	81318	broad.mit.edu	37	11	51411948	51411948	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:51411948C>T	ENST00000319760.6	-	1	500	c.448G>A	c.(448-450)Ggt>Agt	p.G150S		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G150S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGTACAAAACCTCCAATCATG	0.458																																					p.G150S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G448A	11						.						96.0	87.0	90.0					11																	51411948		2201	4296	6497	51268524	SO:0001583	missense	81318	exon1			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.448G>A	11.37:g.51411948C>T	ENSP00000367664:p.Gly150Ser		51268524	NM_001005272	Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	9.105	1.005207	0.19199	.	.	ENSG00000221840	ENST00000319760	T	0.32988	1.43	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000190	T	0.38480	0.1042	L	0.42245	1.32	0.26362	N	0.977022	D	0.67145	0.996	D	0.74023	0.982	T	0.04386	-1.0955	10	0.39692	T	0.17	.	5.73	0.18034	0.3184:0.6816:0.0:0.0	.	150	Q8NH83	OR4A5_HUMAN	S	150	ENSP00000367664:G150S	ENSP00000367664:G150S	G	-	1	0	OR4A5	51268524	0.017000	0.18338	0.210000	0.23637	0.037000	0.13140	2.334000	0.43920	1.394000	0.46624	0.162000	0.16502	GGT		0.458	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272	
OR4C46	119749	broad.mit.edu	37	11	51515477	51515477	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:51515477T>G	ENST00000328188.1	+	1	196	c.196T>G	c.(196-198)Ttt>Gtt	p.F66V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F66V(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTATCTCTCCTTTATTGATGC	0.478																																					p.F66V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T196G	11						.						234.0	221.0	225.0					11																	51515477		2201	4296	6497	51372053	SO:0001583	missense	119749	exon1				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.196T>G	11.37:g.51515477T>G	ENSP00000329056:p.Phe66Val		51372053	NM_001004703		Missense_Mutation	SNP	ENST00000328188.1	37	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	2.600	-0.293127	0.05568	.	.	ENSG00000185926	ENST00000328188	T	0.00995	5.46	2.63	-0.0501	0.13832	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000414	T	0.01287	0.0042	M	0.75615	2.305	0.09310	N	1	B	0.14012	0.009	B	0.20767	0.031	T	0.45498	-0.9257	10	0.66056	D	0.02	.	2.1595	0.03821	0.2315:0.2832:0.0:0.4853	.	66	A6NHA9	O4C46_HUMAN	V	66	ENSP00000329056:F66V	ENSP00000329056:F66V	F	+	1	0	OR4C46	51372053	0.000000	0.05858	0.187000	0.23214	0.036000	0.12997	-1.672000	0.01952	-0.112000	0.11979	0.113000	0.15668	TTT		0.478	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703	
OR4A15	81328	broad.mit.edu	37	11	55135807	55135807	+	Nonsense_Mutation	SNP	C	C	T	rs150217199	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55135807C>T	ENST00000314706.3	+	1	448	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R150*(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GGCCTATGATCGATACATGGC	0.433																																					p.R150X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|NS(1)	c.C448T	11						.	C	stop/ARG	0,4402		0,0,2201	201.0	189.0	193.0		448	0.4	0.2	11	dbSNP_134	193	1,8591	1.2+/-3.3	0,1,4295	yes	stop-gained	OR4A15	NM_001005275.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		150/345	55135807	1,12993	2201	4296	6497	54892383	SO:0001587	stop_gained	81328	exon1			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.448C>T	11.37:g.55135807C>T	ENSP00000325065:p.Arg150*		54892383	NM_001005275	Q6IFL4|Q96R65	Nonsense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	9.712	1.157282	0.21454	0.0	1.16E-4	ENSG00000181958	ENST00000314706	.	.	.	3.48	0.378	0.16204	.	0.000000	0.45361	D	0.000374	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.8967	0.05692	0.3761:0.3969:0.0:0.227	.	.	.	.	X	150	.	ENSP00000325065:R150X	R	+	1	2	OR4A15	54892383	0.064000	0.20934	0.173000	0.22940	0.357000	0.29423	0.213000	0.17521	-0.104000	0.12154	-0.454000	0.05498	CGA		0.433	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
OR4C15	81309	broad.mit.edu	37	11	55322259	55322259	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55322259C>A	ENST00000314644.2	+	1	477	c.477C>A	c.(475-477)ttC>ttA	p.F159L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F159L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGAACACTTCTTTGCTGGGG	0.468										HNSCC(20;0.049)																											p.F159L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C477A	11						.						139.0	123.0	129.0					11																	55322259		2201	4296	6497	55078835	SO:0001583	missense	81309	exon1			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.477C>A	11.37:g.55322259C>A	ENSP00000324958:p.Phe159Leu		55078835	NM_001001920	Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286332	0.23478	.	.	ENSG00000181939	ENST00000314644	T	0.00495	6.99	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	N	0.20986	0.625	0.23685	N	0.997118	B	0.27679	0.185	B	0.32342	0.144	T	0.53344	-0.8452	9	0.24483	T	0.36	.	9.4619	0.38789	0.0:0.906:0.0:0.094	.	105	Q8NGM1	OR4CF_HUMAN	L	159	ENSP00000324958:F159L	ENSP00000324958:F159L	F	+	3	2	OR4C15	55078835	0.000000	0.05858	0.984000	0.44739	0.464000	0.32679	-2.110000	0.01334	2.665000	0.90641	0.385000	0.25706	TTC		0.468	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920	
OR4P4	81300	broad.mit.edu	37	11	55405975	55405975	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55405975A>G	ENST00000314612.2	+	1	142	c.142A>G	c.(142-144)Acg>Gcg	p.T48A		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T48A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GATTTCTATCACGTGCACCCA	0.393																																					p.T48A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A142G	11						.						175.0	152.0	160.0					11																	55405975		2180	4034	6214	55162551	SO:0001583	missense	81300	exon1			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.142A>G	11.37:g.55405975A>G	ENSP00000324831:p.Thr48Ala		55162551	NM_001004124		Missense_Mutation	SNP	ENST00000314612.2	37	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	A	7.144	0.582500	0.13749	.	.	ENSG00000181927	ENST00000314612	T	0.01068	5.38	5.09	-0.261	0.12963	GPCR, rhodopsin-like superfamily (1);	0.417145	0.17977	N	0.155643	T	0.00936	0.0031	L	0.41236	1.265	0.09310	N	1	B	0.10296	0.003	B	0.18871	0.023	T	0.48305	-0.9047	10	0.19590	T	0.45	-3.3823	1.6688	0.02808	0.5641:0.1348:0.1583:0.1428	.	48	Q8NGL7	OR4P4_HUMAN	A	48	ENSP00000324831:T48A	ENSP00000324831:T48A	T	+	1	0	OR4P4	55162551	0.000000	0.05858	0.189000	0.23252	0.466000	0.32739	-0.979000	0.03774	0.263000	0.21812	0.509000	0.49947	ACG		0.393	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124	
OR4S2	219431	broad.mit.edu	37	11	55419140	55419140	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55419140T>G	ENST00000312422.2	+	1	761	c.761T>G	c.(760-762)tTt>tGt	p.F254C		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F254C(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CCCTGTACTTTTATGTACATG	0.473																																					p.F254C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T761G	11						.						161.0	135.0	144.0					11																	55419140		2179	4024	6203	55175716	SO:0001583	missense	219431	exon1			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.761T>G	11.37:g.55419140T>G	ENSP00000310337:p.Phe254Cys		55175716	NM_001004059	Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068133	0.76301	.	.	ENSG00000174982	ENST00000312422	T	0.00287	8.29	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.00784	0.0026	M	0.85542	2.76	0.46725	D	0.99917	D	0.89917	1.0	D	0.97110	1.0	T	0.70335	-0.4900	10	0.72032	D	0.01	.	14.1617	0.65450	0.0:0.0:0.0:1.0	.	254	Q8NH73	OR4S2_HUMAN	C	254	ENSP00000310337:F254C	ENSP00000310337:F254C	F	+	2	0	OR4S2	55175716	0.291000	0.24352	0.992000	0.48379	0.894000	0.52154	3.569000	0.53827	2.028000	0.59812	0.443000	0.29094	TTT		0.473	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059	
OR5D13	390142	broad.mit.edu	37	11	55541762	55541762	+	Silent	SNP	G	G	A	rs150209335	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55541762G>A	ENST00000361760.1	+	1	849	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A283A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACACAGTGGCGATTCCAATGC	0.363													G|||	2	0.000399361	0.0015	0.0	5008	,	,		719	0.0		0.0	False		,,,				2504	0.0				p.A283A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G849A	11						.	G		5,4395	11.4+/-27.6	0,5,2195	79.0	66.0	71.0		849	1.6	0.1	11	dbSNP_134	71	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous	OR5D13	NM_001001967.1		0,7,6489	AA,AG,GG		0.0233,0.1136,0.0539		283/315	55541762	7,12985	2200	4296	6496	55298338	SO:0001819	synonymous_variant	390142	exon1			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.849G>A	11.37:g.55541762G>A			55298338	NM_001001967	Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	CCDS31507.1																																																																																				0.363	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
OR5D14	219436	broad.mit.edu	37	11	55563299	55563299	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55563299G>T	ENST00000335605.1	+	1	268	c.268G>T	c.(268-270)Gca>Tca	p.A90S		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A90S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTTGGTAATGGCAGATAAAAG	0.428																																					p.A90S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G268T	11						.						172.0	145.0	154.0					11																	55563299		2200	4296	6496	55319875	SO:0001583	missense	219436	exon1			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.268G>T	11.37:g.55563299G>T	ENSP00000334456:p.Ala90Ser		55319875	NM_001004735	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	6.255	0.415175	0.11870	.	.	ENSG00000186113	ENST00000335605	T	0.01347	4.99	5.08	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	1.022810	0.07832	N	0.961492	T	0.00936	0.0031	N	0.01824	-0.7	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.47636	-0.9102	10	0.38643	T	0.18	0.0541	10.6098	0.45415	0.1624:0.0:0.8376:0.0	.	90	Q8NGL3	OR5DE_HUMAN	S	90	ENSP00000334456:A90S	ENSP00000334456:A90S	A	+	1	0	OR5D14	55319875	0.013000	0.17824	0.057000	0.19452	0.017000	0.09413	1.825000	0.39081	1.132000	0.42129	0.643000	0.83706	GCA		0.428	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735	
OR5D14	219436	broad.mit.edu	37	11	55563634	55563634	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55563634T>G	ENST00000335605.1	+	1	603	c.603T>G	c.(601-603)ctT>ctG	p.L201L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L201L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACCTGCTGCTTTTCAGCTTCG	0.413																																					p.L201L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T603G	11						.						205.0	196.0	199.0					11																	55563634		2200	4296	6496	55320210	SO:0001819	synonymous_variant	219436	exon1			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.603T>G	11.37:g.55563634T>G			55320210	NM_001004735	Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	CCDS31508.1																																																																																				0.413	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735	
OR5I1	10798	broad.mit.edu	37	11	55703727	55703727	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55703727C>T	ENST00000301532.3	-	1	149	c.150G>A	c.(148-150)ttG>ttA	p.L50L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	50			L -> S (in dbSNP:rs4367963).		signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L50L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CAATCCTGATCAACAGCATCA	0.403																																					p.L50L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G150A	11						.						70.0	69.0	69.0					11																	55703727		2201	4296	6497	55460303	SO:0001819	synonymous_variant	10798	exon1			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.150G>A	11.37:g.55703727C>T			55460303	NM_006637	Q6IEU4	Silent	SNP	ENST00000301532.3	37	CCDS7949.1																																																																																				0.403	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
OR5I1	10798	broad.mit.edu	37	11	55703861	55703861	+	Silent	SNP	T	T	G	rs17597625	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55703861T>G	ENST00000301532.3	-	1	15	c.16A>C	c.(16-18)Aga>Cga	p.R6R		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	6			R -> G (in dbSNP:rs17597625).		signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R6R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTGTAGTTTCTATCTGTAAAT	0.328																																					p.R6R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A16C	11						.						37.0	36.0	36.0					11																	55703861		2200	4291	6491	55460437	SO:0001819	synonymous_variant	10798	exon1			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.16A>C	11.37:g.55703861T>G			55460437	NM_006637	Q6IEU4	Silent	SNP	ENST00000301532.3	37	CCDS7949.1																																																																																				0.328	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
OR5F1	338674	broad.mit.edu	37	11	55761349	55761349	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55761349G>T	ENST00000278409.1	-	1	752	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	251					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F251L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGTGGCATAGAACAGAATTA	0.488																																					p.F251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C753A	11						.						90.0	87.0	88.0					11																	55761349		2201	4296	6497	55517925	SO:0001583	missense	338674	exon1			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.753C>A	11.37:g.55761349G>T	ENSP00000278409:p.Phe251Leu		55517925	NM_003697	Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304271	0.23736	.	.	ENSG00000149133	ENST00000278409	T	0.00285	8.3	2.99	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	M	0.79693	2.465	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.49615	-0.8921	9	0.54805	T	0.06	.	5.128	0.14896	0.1231:0.0:0.6733:0.2036	.	251	O95221	OR5F1_HUMAN	L	251	ENSP00000278409:F251L	ENSP00000278409:F251L	F	-	3	2	OR5F1	55517925	0.085000	0.21516	0.279000	0.24732	0.043000	0.13939	0.529000	0.23019	0.390000	0.25115	0.289000	0.19496	TTC		0.488	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697	
OR5F1	338674	broad.mit.edu	37	11	55761516	55761516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55761516C>A	ENST00000278409.1	-	1	585	c.586G>T	c.(586-588)Gaa>Taa	p.E196*		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	196					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E196*(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTTATGCTTTCTTTCAGGATT	0.438																																					p.E196X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G586T	11						.						85.0	80.0	81.0					11																	55761516		2201	4296	6497	55518092	SO:0001587	stop_gained	338674	exon1			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.586G>T	11.37:g.55761516C>A	ENSP00000278409:p.Glu196*		55518092	NM_003697	Q495D1|Q6IFB9	Nonsense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463914	0.26335	.	.	ENSG00000149133	ENST00000278409	.	.	.	3.03	-0.451	0.12214	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	4.6512	0.12596	0.1739:0.5967:0.0:0.2294	.	.	.	.	X	196	.	ENSP00000278409:E196X	E	-	1	0	OR5F1	55518092	0.000000	0.05858	0.022000	0.16811	0.192000	0.23643	0.469000	0.22067	0.391000	0.25143	0.297000	0.19635	GAA		0.438	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697	
OR5F1	338674	broad.mit.edu	37	11	55761598	55761598	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55761598G>T	ENST00000278409.1	-	1	503	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	168					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGGAGTCACAGAATGACAAGC	0.463																																					p.F168L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C504A	11						.						83.0	78.0	79.0					11																	55761598		2201	4296	6497	55518174	SO:0001583	missense	338674	exon1			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.504C>A	11.37:g.55761598G>T	ENSP00000278409:p.Phe168Leu		55518174	NM_003697	Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435917	0.25813	.	.	ENSG00000149133	ENST00000278409	T	0.00039	8.85	3.03	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	M	0.80982	2.52	0.31655	N	0.646293	B	0.17465	0.022	B	0.25140	0.058	T	0.02437	-1.1159	9	0.66056	D	0.02	.	10.0502	0.42210	0.0:0.0:0.7967:0.2033	.	168	O95221	OR5F1_HUMAN	L	168	ENSP00000278409:F168L	ENSP00000278409:F168L	F	-	3	2	OR5F1	55518174	0.895000	0.30542	0.370000	0.25965	0.436000	0.31835	0.043000	0.13971	0.373000	0.24621	0.297000	0.19635	TTC		0.463	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697	
OR5F1	338674	broad.mit.edu	37	11	55761778	55761778	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55761778C>T	ENST00000278409.1	-	1	323	c.324G>A	c.(322-324)gcG>gcA	p.A108A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	108					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A108A(2)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATTCGGTTGTCGCCAGGGAGA	0.483																																					p.A108A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G324A	11						.						84.0	82.0	83.0					11																	55761778		2201	4296	6497	55518354	SO:0001819	synonymous_variant	338674	exon1			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.324G>A	11.37:g.55761778C>T			55518354	NM_003697	Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	CCDS31515.1																																																																																				0.483	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697	
OR5AS1	219447	broad.mit.edu	37	11	55798825	55798825	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55798825T>C	ENST00000313555.1	+	1	931	c.931T>C	c.(931-933)Tca>Cca	p.S311P		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S311P(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AATTGGATATTCAAATGAATG	0.284																																					p.S311P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T931C	11						.						44.0	53.0	50.0					11																	55798825		2197	4292	6489	55555401	SO:0001583	missense	219447	exon1			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.931T>C	11.37:g.55798825T>C	ENSP00000324111:p.Ser311Pro		55555401	NM_001001921	Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	7.029	0.560287	0.13498	.	.	ENSG00000181785	ENST00000313555	T	0.00366	7.79	4.55	0.718	0.18202	.	.	.	.	.	T	0.00210	0.0006	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32455	-0.9906	9	0.49607	T	0.09	.	5.19	0.15205	0.0:0.1836:0.1555:0.6609	.	311	Q8N127	O5AS1_HUMAN	P	311	ENSP00000324111:S311P	ENSP00000324111:S311P	S	+	1	0	OR5AS1	55555401	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.112000	0.10791	0.193000	0.20303	0.472000	0.43445	TCA		0.284	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921	
OR8K5	219453	broad.mit.edu	37	11	55927114	55927114	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:55927114T>C	ENST00000313447.1	-	1	679	c.680A>G	c.(679-681)cAa>cGa	p.Q227R		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q227R(1)		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)				AGAATGCATTTGACATATAGC	0.383																																					p.Q227R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A680G	11						.						72.0	70.0	71.0					11																	55927114		2201	4296	6497	55683690	SO:0001583	missense	219453	exon1			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.680A>G	11.37:g.55927114T>C	ENSP00000323853:p.Gln227Arg		55683690	NM_001004058	Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.620071	0.00118	.	.	ENSG00000181752	ENST00000313447	T	0.00022	9.01	3.88	-5.96	0.02234	GPCR, rhodopsin-like superfamily (1);	0.678279	0.12407	N	0.471644	T	0.00039	0.0001	N	0.00089	-2.185	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.41124	-0.9526	10	0.02654	T	1	.	13.6923	0.62553	0.0:0.1604:0.0:0.8396	.	227	Q8NH50	OR8K5_HUMAN	R	227	ENSP00000323853:Q227R	ENSP00000323853:Q227R	Q	-	2	0	OR8K5	55683690	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-3.009000	0.00648	-1.126000	0.02929	-0.476000	0.04901	CAA		0.383	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058	
OR5T1	390155	broad.mit.edu	37	11	56043492	56043492	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:56043492C>A	ENST00000313033.2	+	1	464	c.378C>A	c.(376-378)ctC>ctA	p.L126L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L126L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AATGCTTTCTCTTGGCTGCAA	0.418																																					p.L126L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C378A	11						.						214.0	192.0	199.0					11																	56043492		2201	4296	6497	55800068	SO:0001819	synonymous_variant	390155	exon1			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.378C>A	11.37:g.56043492C>A			55800068	NM_001004745	B2RNM9	Silent	SNP	ENST00000313033.2	37	CCDS31525.1																																																																																				0.418	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745	
OR8H1	219469	broad.mit.edu	37	11	56058173	56058173	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:56058173G>A	ENST00000313022.2	-	1	393	c.366C>T	c.(364-366)taC>taT	p.Y122Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y122Y(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGATAGCTACGTAGCGATCAT	0.443																																					p.Y122Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C366T	11						.						136.0	131.0	133.0					11																	56058173		2201	4296	6497	55814749	SO:0001819	synonymous_variant	219469	exon1			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.366C>T	11.37:g.56058173G>A			55814749	NM_001005199	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1																																																																																				0.443	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OR5R1	219479	broad.mit.edu	37	11	56185493	56185493	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:56185493A>G	ENST00000312253.1	-	1	215	c.216T>C	c.(214-216)tgT>tgC	p.C72C		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C72C(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CAGAGGAGTAACAAAGGTCAA	0.438																																					p.C72C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T216C	11						.						130.0	116.0	121.0					11																	56185493		2201	4296	6497	55942069	SO:0001819	synonymous_variant	219479	exon1			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.216T>C	11.37:g.56185493A>G			55942069	NM_001004744		Silent	SNP	ENST00000312253.1	37	CCDS31530.1																																																																																				0.438	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744	
OR5M8	219484	broad.mit.edu	37	11	56258205	56258205	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:56258205A>G	ENST00000327216.2	-	1	666	c.642T>C	c.(640-642)tgT>tgC	p.C214C		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C214C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGTAGGAAATACATATGATGA	0.423																																					p.C214C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T642C	11						.						52.0	54.0	53.0					11																	56258205		2201	4296	6497	56014781	SO:0001819	synonymous_variant	219484	exon1			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.642T>C	11.37:g.56258205A>G			56014781	NM_001005282	B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	CCDS31533.1																																																																																				0.423	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282	
OR5AP2	338675	broad.mit.edu	37	11	56409482	56409482	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:56409482C>A	ENST00000302981.1	-	1	433	c.434G>T	c.(433-435)aGa>aTa	p.R145I	OR5AP2_ENST00000544374.1_Missense_Mutation_p.R146I	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R145I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AAAGCAAATTCTCCCAGACAC	0.478																																					p.R145I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G434T	11						.						74.0	75.0	75.0					11																	56409482		2201	4296	6497	56166058	SO:0001583	missense	338675	exon1			AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.434G>T	11.37:g.56409482C>A	ENSP00000303111:p.Arg145Ile		56166058	NM_001002925	B2RNM8	Missense_Mutation	SNP	ENST00000302981.1	37	CCDS31534.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701712	0.30142	.	.	ENSG00000172464	ENST00000544374;ENST00000302981	T;T	0.43294	0.95;0.95	4.69	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.367765	0.23481	N	0.047704	T	0.49745	0.1575	M	0.67397	2.05	0.19575	N	0.999964	P	0.48764	0.915	P	0.52554	0.702	T	0.41840	-0.9486	10	0.59425	D	0.04	.	10.2373	0.43290	0.0:0.7724:0.0:0.2276	.	145	Q8NGF4	O5AP2_HUMAN	I	146;145	ENSP00000442701:R146I;ENSP00000303111:R145I	ENSP00000303111:R145I	R	-	2	0	OR5AP2	56166058	0.000000	0.05858	0.879000	0.34478	0.100000	0.18952	-0.606000	0.05654	0.578000	0.29487	0.542000	0.68232	AGA		0.478	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925	
OR5AR1	219493	broad.mit.edu	37	11	56431692	56431692	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:56431692C>A	ENST00000302969.2	+	1	555	c.531C>A	c.(529-531)ttC>ttA	p.F177L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F177L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCAATCATTTCTTCTGCGAAA	0.483																																					p.F177L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C531A	11						.						222.0	196.0	205.0					11																	56431692		2201	4296	6497	56188268	SO:0001583	missense	219493	exon1			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.531C>A	11.37:g.56431692C>A	ENSP00000302639:p.Phe177Leu		56188268	NM_001004730	Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318875	0.60524	.	.	ENSG00000172459	ENST00000302969	T	0.00346	8.01	4.91	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000127	T	0.00496	0.0016	M	0.87038	2.855	0.28487	N	0.914657	P	0.42757	0.789	P	0.46917	0.531	T	0.09509	-1.0671	10	0.87932	D	0	.	9.4087	0.38477	0.0:0.8176:0.0:0.1824	.	177	Q8NGP9	O5AR1_HUMAN	L	177	ENSP00000302639:F177L	ENSP00000302639:F177L	F	+	3	2	OR5AR1	56188268	0.651000	0.27340	1.000000	0.80357	0.981000	0.71138	0.861000	0.27885	0.607000	0.29982	0.573000	0.79308	TTC		0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730	
OR9G4	283189	broad.mit.edu	37	11	56510657	56510657	+	Missense_Mutation	SNP	C	C	T	rs147669235		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:56510657C>T	ENST00000302957.3	-	1	630	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E211K(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGGACTTTTTCGTAGACCCTG	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22670	0.0		0.0	False		,,,				2504	0.0				p.E211K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G631A	11						.	C	LYS/GLU	0,4402		0,0,2201	79.0	73.0	75.0		631	4.8	0.4	11	dbSNP_134	75	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR9G4	NM_001005284.1	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	211/328	56510657	1,12993	2201	4296	6497	56267233	SO:0001583	missense	283189	exon1			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.631G>A	11.37:g.56510657C>T	ENSP00000307515:p.Glu211Lys		56267233	NM_001005284	Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	CCDS31537.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.11	2.138289	0.37728	0.0	1.16E-4	ENSG00000172457	ENST00000302957	T	0.00207	8.55	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.186375	0.25717	N	0.028767	T	0.00356	0.0011	M	0.73372	2.23	0.09310	N	0.999998	D	0.61697	0.99	P	0.48952	0.596	T	0.60271	-0.7296	10	0.56958	D	0.05	-12.4199	16.8673	0.86033	0.0:1.0:0.0:0.0	.	211	Q8NGQ1	OR9G4_HUMAN	K	211	ENSP00000307515:E211K	ENSP00000307515:E211K	E	-	1	0	OR9G4	56267233	0.000000	0.05858	0.378000	0.26068	0.062000	0.15995	0.360000	0.20250	2.636000	0.89361	0.643000	0.83706	GAA		0.438	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284	
SERPING1	710	broad.mit.edu	37	11	57367766	57367766	+	Missense_Mutation	SNP	G	G	A	rs139035354		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:57367766G>A	ENST00000278407.4	+	3	693	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SERPING1_ENST00000340687.6_Missense_Mutation_p.A156T|SERPING1_ENST00000403558.1_Missense_Mutation_p.A190T|SERPING1_ENST00000378324.2_Missense_Mutation_p.A104T|SERPING1_ENST00000378323.4_Missense_Mutation_p.A161T	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	156					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A156T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTCTACCACGCCTTCTCAGC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		17777	0.001		0.0	False		,,,				2504	0.0				p.A156T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G466A	11	GRCh37	CM083117	SERPING1	M	rs139035354	.	G	THR/ALA,THR/ALA	0,4402		0,0,2201	103.0	104.0	103.0		466,466	5.0	0.7	11	dbSNP_134	103	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	SERPING1	NM_000062.2,NM_001032295.1	58,58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	156/501,156/501	57367766	1,12993	2201	4296	6497	57124342	SO:0001583	missense	710	exon3			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.466G>A	11.37:g.57367766G>A	ENSP00000278407:p.Ala156Thr		57124342	NM_000062	A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	ENST00000278407.4	37	CCDS7962.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.40	1.339923	0.24339	0.0	1.16E-4	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D;D	0.93133	-3.17;-1.93;-1.93;-1.93;-1.93;-1.93	5.94	5.03	0.67393	Serpin domain (3);	0.635091	0.16981	N	0.191714	D	0.91274	0.7249	M	0.75264	2.295	0.33964	D	0.645938	P;P;P;P	0.45768	0.662;0.866;0.662;0.662	B;B;B;B	0.39299	0.173;0.296;0.173;0.173	D	0.91226	0.5010	10	0.17832	T	0.49	.	11.3668	0.49677	0.0833:0.0:0.9167:0.0	.	161;190;156;156	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	T	156;156;156;161;104;190	ENSP00000384561:A156T;ENSP00000278407:A156T;ENSP00000341861:A156T;ENSP00000367574:A161T;ENSP00000367575:A104T;ENSP00000384420:A190T	ENSP00000278407:A156T	A	+	1	0	SERPING1	57124342	0.707000	0.27866	0.710000	0.30468	0.398000	0.30690	1.380000	0.34351	1.531000	0.49152	0.561000	0.74099	GCC		0.542	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317465.1	NM_000062	
CNTF	1270	broad.mit.edu	37	11	58390307	58390307	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:58390307C>T	ENST00000361987.4	+	1	162	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	28					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)	p.R28C(1)		NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGGAAGATTCGTTCAGACCT	0.483																																					p.R28C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C82T	11						.						125.0	114.0	118.0					11																	58390307		2201	4295	6496	58146883	SO:0001583	missense	1270	exon1			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.82C>T	11.37:g.58390307C>T	ENSP00000355370:p.Arg28Cys		58146883	NM_000614	B2RAB2	Missense_Mutation	SNP	ENST00000361987.4	37	CCDS31554.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764300	0.31228	.	.	ENSG00000242689	ENST00000361987	T	0.46819	0.86	5.16	4.26	0.50523	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	T	0.45915	0.1366	M	0.67953	2.075	0.47094	D	0.999313	B	0.20459	0.045	B	0.09377	0.004	T	0.48658	-0.9016	9	0.62326	D	0.03	-12.4163	11.5845	0.50910	0.0:0.9163:0.0:0.0837	.	28	P26441	CNTF_HUMAN	C	28	ENSP00000355370:R28C	ENSP00000447778:R28C	R	+	1	0	CNTF	58146883	0.998000	0.40836	0.993000	0.49108	0.464000	0.32679	4.513000	0.60476	1.556000	0.49512	-0.122000	0.15005	CGT		0.483	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268673.1	NM_000614	
GLYAT	10249	broad.mit.edu	37	11	58477249	58477249	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:58477249A>G	ENST00000344743.3	-	6	1022	c.881T>C	c.(880-882)gTa>gCa	p.V294A	GLYAT_ENST00000529732.1_Missense_Mutation_p.V294A	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	294					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)	p.V294A(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TCACAGAGGTACACAGTTCCA	0.418																																					p.V294A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T881C	11						.						117.0	116.0	116.0					11																	58477249		2201	4295	6496	58233825	SO:0001583	missense	10249	exon6			AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.881T>C	11.37:g.58477249A>G	ENSP00000340200:p.Val294Ala		58233825	NM_201648	O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541137	0.45280	.	.	ENSG00000149124	ENST00000344743;ENST00000529732	T;T	0.16597	2.33;2.33	6.06	-1.81	0.07882	Acyl-CoA N-acyltransferase (1);Glycine N-acyltransferase, C-terminal (1);	1.394480	0.04570	N	0.393126	T	0.17704	0.0425	M	0.62154	1.92	0.09310	N	1	B	0.20368	0.044	B	0.24848	0.056	T	0.35475	-0.9787	10	0.30854	T	0.27	-0.9578	4.254	0.10708	0.536:0.0:0.207:0.257	.	294	Q6IB77	GLYAT_HUMAN	A	294	ENSP00000340200:V294A;ENSP00000431688:V294A	ENSP00000340200:V294A	V	-	2	0	GLYAT	58233825	0.000000	0.05858	0.000000	0.03702	0.462000	0.32619	0.138000	0.16016	-0.107000	0.12088	0.528000	0.53228	GTA		0.418	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1		
FAM111B	374393	broad.mit.edu	37	11	58892779	58892779	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:58892779G>A	ENST00000343597.3	+	4	1400	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	FAM111B_ENST00000411426.1_Silent_p.P373P|FAM111B_ENST00000529618.1_Silent_p.P373P	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	403							catalytic activity (GO:0003824)	p.P403P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATCAGTATCCGAATTTTAAAG	0.358																																					p.P373P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1119A	11						.						68.0	74.0	72.0					11																	58892779		2200	4293	6493	58649355	SO:0001819	synonymous_variant	374393	exon3			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1209G>A	11.37:g.58892779G>A			58649355	NM_001142703	B4E2G2|Q6P661	Silent	SNP	ENST00000343597.3	37	CCDS7972.1																																																																																				0.358	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
FAM111B	374393	broad.mit.edu	37	11	58893483	58893483	+	Missense_Mutation	SNP	C	C	T	rs143926442	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:58893483C>T	ENST00000343597.3	+	4	2104	c.1913C>T	c.(1912-1914)aCg>aTg	p.T638M	FAM111B_ENST00000411426.1_Missense_Mutation_p.T608M|FAM111B_ENST00000529618.1_Missense_Mutation_p.T608M	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	638							catalytic activity (GO:0003824)	p.T638M(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AACACACACACGCTTAGTTAT	0.408													C|||	5	0.000998403	0.0038	0.0	5008	,	,		19742	0.0		0.0	False		,,,				2504	0.0				p.T608M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1823T	11						.	C	MET/THR,MET/THR,MET/THR	22,4380	29.0+/-57.7	0,22,2179	141.0	120.0	127.0		1823,1823,1913	-4.4	0.0	11	dbSNP_134	127	1,8589	1.2+/-3.3	0,1,4294	yes	missense,missense,missense	FAM111B	NM_001142703.1,NM_001142704.1,NM_198947.3	81,81,81	0,23,6473	TT,TC,CC		0.0116,0.4998,0.177	probably-damaging,probably-damaging,probably-damaging	608/705,608/705,638/735	58893483	23,12969	2201	4295	6496	58650059	SO:0001583	missense	374393	exon3			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1913C>T	11.37:g.58893483C>T	ENSP00000341565:p.Thr638Met		58650059	NM_001142703	B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	CCDS7972.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	12.72	2.021806	0.35701	0.004998	1.16E-4	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	D;D;D	0.88431	-2.38;-2.38;-2.38	4.51	-4.45	0.03546	Peptidase cysteine/serine, trypsin-like (1);	1.064320	0.07370	N	0.885553	T	0.75766	0.3894	L	0.46157	1.445	0.09310	N	1	P	0.38767	0.646	B	0.25884	0.064	T	0.66791	-0.5834	10	0.46703	T	0.11	.	11.7784	0.51999	0.0:0.3556:0.0:0.6444	.	638	Q6SJ93	F111B_HUMAN	M	608;608;638	ENSP00000393855:T608M;ENSP00000432875:T608M;ENSP00000341565:T638M	ENSP00000341565:T638M	T	+	2	0	FAM111B	58650059	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.113000	0.03296	-0.889000	0.03950	-0.808000	0.03180	ACG		0.408	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947	
OR4D10	390197	broad.mit.edu	37	11	59245249	59245249	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:59245249C>T	ENST00000530162.1	+	1	404	c.347C>T	c.(346-348)tCg>tTg	p.S116L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S114L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCTCTTTCGGTGATGGCA	0.478																																					p.S116L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C347T	11						.						80.0	81.0	81.0					11																	59245249		2170	4280	6450	59001825	SO:0001583	missense	390197	exon1			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.347C>T	11.37:g.59245249C>T	ENSP00000436424:p.Ser116Leu		59001825	NM_001004705	B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516658	0.27123	.	.	ENSG00000254466	ENST00000530162	T	0.00388	7.59	4.4	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	L	0.47016	1.485	0.09310	N	1	P	0.43938	0.822	B	0.34779	0.189	T	0.55805	-0.8083	9	0.51188	T	0.08	.	13.1267	0.59360	0.0:0.8372:0.1628:0.0	.	116	Q8NGI6	OR4DA_HUMAN	L	116	ENSP00000436424:S116L	ENSP00000436424:S116L	S	+	2	0	OR4D10	59001825	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.571000	0.23669	0.915000	0.36847	0.655000	0.94253	TCG		0.478	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705	
OSBP	5007	broad.mit.edu	37	11	59368297	59368297	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:59368297C>T	ENST00000263847.1	-	6	1653	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	392					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)	p.E392K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		ATTACCTGTTCATCAAGGCTG	0.423																																					p.E392K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1174A	11						.						184.0	191.0	189.0					11																	59368297		2201	4295	6496	59124873	SO:0001583	missense	5007	exon6			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1174G>A	11.37:g.59368297C>T	ENSP00000263847:p.Glu392Lys		59124873	NM_002556	Q6P524	Missense_Mutation	SNP	ENST00000263847.1	37	CCDS7974.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890401	0.72524	.	.	ENSG00000110048	ENST00000263847	T	0.30182	1.54	5.63	5.63	0.86233	.	0.176778	0.46758	D	0.000263	T	0.17323	0.0416	N	0.08118	0	0.58432	D	0.999999	B	0.12013	0.005	B	0.09377	0.004	T	0.10989	-1.0606	10	0.07325	T	0.83	-14.3921	19.2882	0.94087	0.0:1.0:0.0:0.0	.	392	P22059	OSBP1_HUMAN	K	392	ENSP00000263847:E392K	ENSP00000263847:E392K	E	-	1	0	OSBP	59124873	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.214000	0.77958	2.663000	0.90544	0.655000	0.94253	GAA		0.423	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1		
MS4A1	931	broad.mit.edu	37	11	60234514	60234514	+	Missense_Mutation	SNP	C	C	T	rs188842906	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:60234514C>T	ENST00000534668.1	+	6	945	c.656C>T	c.(655-657)aCg>aTg	p.T219M	MS4A1_ENST00000345732.4_Missense_Mutation_p.T219M|MS4A1_ENST00000532073.1_Missense_Mutation_p.T206M|MS4A1_ENST00000528313.1_Missense_Mutation_p.T52M|MS4A1_ENST00000389939.2_Missense_Mutation_p.T219M	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	219					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.T219M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TGGAAAAGAACGTGCTCCAGA	0.428													C|||	3	0.000599042	0.0023	0.0	5008	,	,		17232	0.0		0.0	False		,,,				2504	0.0				p.T219M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C656T	11						.						130.0	117.0	122.0					11																	60234514		2203	4300	6503	59991090	SO:0001583	missense	931	exon6			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.656C>T	11.37:g.60234514C>T	ENSP00000433277:p.Thr219Met		59991090	NM_021950	A6NMS4|B4DT24|P08984|Q13963	Missense_Mutation	SNP	ENST00000534668.1	37	CCDS31570.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	0.465	-0.887324	0.02511	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	T;T;T;T	0.21543	2.51;2.0;2.51;2.51	5.3	-1.63	0.08345	.	1.282650	0.04795	N	0.432397	T	0.08891	0.0220	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.29088	-1.0023	10	0.39692	T	0.17	-22.7497	4.4062	0.11411	0.1448:0.3292:0.0:0.526	.	52;206;219	B4DT24;E9PKH8;P11836	.;.;CD20_HUMAN	M	219;206;219;52;219	ENSP00000314620:T219M;ENSP00000433519:T206M;ENSP00000433277:T219M;ENSP00000374589:T219M	ENSP00000314620:T219M	T	+	2	0	MS4A1	59991090	0.239000	0.23836	0.000000	0.03702	0.001000	0.01503	0.491000	0.22419	-0.435000	0.07264	-0.982000	0.02568	ACG		0.428	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1		
ZP1	22917	broad.mit.edu	37	11	60640646	60640646	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:60640646G>A	ENST00000278853.5	+	7	1124	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	375	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.R375H(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTTCATGTGCGCTGTGTCTTC	0.572																																					p.R375H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1124A	11						.						211.0	168.0	182.0					11																	60640646		2203	4299	6502	60397222	SO:0001583	missense	22917	exon7			BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1124G>A	11.37:g.60640646G>A	ENSP00000278853:p.Arg375His		60397222	NM_207341		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046082	0.19748	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.83250	-1.7	4.96	3.1	0.35709	Zona pellucida sperm-binding protein (3);	0.266296	0.41001	N	0.000963	T	0.79125	0.4393	L	0.60067	1.865	0.30466	N	0.77378	B	0.33299	0.407	B	0.36186	0.219	T	0.75260	-0.3380	10	0.46703	T	0.11	-15.9426	9.4048	0.38455	0.164:0.0:0.836:0.0	.	375	P60852	ZP1_HUMAN	H	375;82	ENSP00000278853:R375H	ENSP00000278853:R375H	R	+	2	0	ZP1	60397222	0.909000	0.30893	0.065000	0.19835	0.017000	0.09413	1.021000	0.30040	0.527000	0.28560	0.467000	0.42956	CGC		0.572	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341	
TMEM132A	54972	broad.mit.edu	37	11	60699519	60699519	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:60699519G>C	ENST00000453848.2	+	7	1434	c.1276G>C	c.(1276-1278)Gtc>Ctc	p.V426L	TMEM132A_ENST00000005286.4_Missense_Mutation_p.V427L			Q24JP5	T132A_HUMAN	transmembrane protein 132A	426						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGTGCGCCTTGTCACTGTGGA	0.667																																					p.V427L												.	.	0			c.G1279C	11						.						61.0	59.0	60.0					11																	60699519		2203	4299	6502	60456095	SO:0001583	missense	54972	exon7			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1276G>C	11.37:g.60699519G>C	ENSP00000405823:p.Val426Leu		60456095	NM_017870	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701581	0.48307	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.15017	2.46;2.46	4.74	4.74	0.60224	.	0.092424	0.41001	D	0.000961	T	0.16471	0.0396	L	0.45285	1.41	0.37507	D	0.917007	P;P;P	0.46784	0.537;0.884;0.537	B;B;B	0.38500	0.275;0.275;0.275	T	0.10109	-1.0644	10	0.87932	D	0	.	14.8809	0.70531	0.0:0.0:1.0:0.0	.	177;426;427	Q24JP5-4;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	L	177;426;427	ENSP00000405823:V426L;ENSP00000005286:V427L	ENSP00000005286:V427L	V	+	1	0	TMEM132A	60456095	0.841000	0.29509	0.932000	0.37286	0.827000	0.46813	1.145000	0.31577	2.364000	0.80123	0.561000	0.74099	GTC		0.667	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870	
VPS37C	55048	broad.mit.edu	37	11	60906282	60906282	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:60906282T>G	ENST00000301765.5	-	2	252	c.20A>C	c.(19-21)aAg>aCg	p.K7T		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	7					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)		p.K7T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CTGCAGGGTCTTATCCTTCAG	0.567																																					p.K7T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A20C	11						.						116.0	102.0	107.0					11																	60906282		2203	4299	6502	60662858	SO:0001583	missense	55048	exon2			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.20A>C	11.37:g.60906282T>G	ENSP00000301765:p.Lys7Thr		60662858	NM_017966	Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.414568	0.62511	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.78003	-1.14;-1.14	5.8	4.68	0.58851	Modifier of rudimentary, Modr (1);	0.131821	0.52532	D	0.000066	T	0.75206	0.3818	L	0.34521	1.04	0.27266	N	0.958497	D;D	0.56746	0.959;0.977	P;P	0.57057	0.596;0.812	T	0.67975	-0.5531	10	0.52906	T	0.07	-41.6481	6.4495	0.21896	0.0:0.1606:0.0:0.8394	.	7;7	B4DYD9;A5D8V6	.;VP37C_HUMAN	T	7	ENSP00000301765:K7T;ENSP00000446013:K7T	ENSP00000301765:K7T	K	-	2	0	VPS37C	60662858	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	1.396000	0.34531	2.209000	0.71365	0.533000	0.62120	AAG		0.567	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966	
INCENP	3619	broad.mit.edu	37	11	61897364	61897364	+	Missense_Mutation	SNP	G	G	A	rs151321132		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:61897364G>A	ENST00000394818.3	+	4	567	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	INCENP_ENST00000278849.4_Missense_Mutation_p.R122Q	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	122					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)		p.R122Q(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCCGTCCTGCGGCGTGTGACC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		15772	0.0		0.001	False		,,,				2504	0.0				p.R122Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G365A	11						.	G	GLN/ARG,GLN/ARG	0,4400		0,0,2200	49.0	51.0	51.0		365,365	-3.7	0.1	11	dbSNP_134	51	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense	INCENP	NM_020238.2,NM_001040694.1	43,43	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	122/915,122/919	61897364	2,12994	2200	4298	6498	61653940	SO:0001583	missense	3619	exon4			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.365G>A	11.37:g.61897364G>A	ENSP00000378295:p.Arg122Gln		61653940	NM_001040694	A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343523	0.24339	0.0	2.33E-4	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.22945	2.52;1.93;2.52	4.75	-3.65	0.04502	.	0.670329	0.12780	N	0.439769	T	0.08802	0.0218	L	0.33485	1.01	0.09310	N	1	P;B;B	0.40834	0.73;0.017;0.01	B;B;B	0.22601	0.04;0.005;0.002	T	0.32534	-0.9903	10	0.19147	T	0.46	.	1.4152	0.02300	0.2718:0.3265:0.2711:0.1306	.	122;122;122	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	Q	122	ENSP00000378295:R122Q;ENSP00000433100:R122Q;ENSP00000278849:R122Q	ENSP00000278849:R122Q	R	+	2	0	INCENP	61653940	0.035000	0.19736	0.065000	0.19835	0.010000	0.07245	0.367000	0.20382	-0.351000	0.08249	0.561000	0.74099	CGG		0.632	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238	
AHNAK	79026	broad.mit.edu	37	11	62287213	62287213	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:62287213G>A	ENST00000378024.4	-	5	14950	c.14676C>T	c.(14674-14676)ttC>ttT	p.F4892F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4892					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.F4892F(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGGCCTTCGAAATCCAGAC	0.458																																					p.F4892F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C14676T	11						.						51.0	52.0	51.0					11																	62287213		2202	4299	6501	62043789	SO:0001819	synonymous_variant	79026	exon5			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.14676C>T	11.37:g.62287213G>A			62043789	NM_001620	A1A586	Silent	SNP	ENST00000378024.4	37	CCDS31584.1																																																																																				0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
AHNAK	79026	broad.mit.edu	37	11	62294090	62294090	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:62294090G>T	ENST00000378024.4	-	5	8073	c.7799C>A	c.(7798-7800)tCt>tAt	p.S2600Y	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2600					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.S2600Y(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGCAGAGAAACATCCAC	0.507																																					p.S2600Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7799A	11						.						182.0	188.0	186.0					11																	62294090		2202	4299	6501	62050666	SO:0001583	missense	79026	exon5			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.7799C>A	11.37:g.62294090G>T	ENSP00000367263:p.Ser2600Tyr		62050666	NM_001620	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	17.17	3.322521	0.60634	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.04654	3.58	4.55	4.55	0.56014	.	.	.	.	.	T	0.29190	0.0726	H	0.94734	3.575	0.36018	D	0.838522	D	0.65815	0.995	D	0.64776	0.929	T	0.56842	-0.7912	9	0.87932	D	0	-4.9569	15.1152	0.72394	0.0:0.0:1.0:0.0	.	2600	Q09666	AHNK_HUMAN	Y	689;2600	ENSP00000367263:S2600Y	ENSP00000244934:S689Y	S	-	2	0	AHNAK	62050666	0.945000	0.32115	0.049000	0.19019	0.994000	0.84299	7.170000	0.77587	2.069000	0.61940	0.479000	0.44913	TCT		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
NXF1	10482	broad.mit.edu	37	11	62564038	62564038	+	Splice_Site	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:62564038A>G	ENST00000532297.1	-	15	1809	c.1180T>C	c.(1180-1182)Tac>Cac	p.Y394H	NXF1_ENST00000294172.2_Splice_Site_p.Y394H|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	394	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y394H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTGCATAGTACCTATGGGAA	0.512																																					p.Y394H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1180C	11						.						61.0	62.0	62.0					11																	62564038		2201	4299	6500	62320614	SO:0001630	splice_region_variant	10482	exon14			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1179-1T>C	11.37:g.62564038A>G			62320614	NM_006362	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259527	0.80246	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.71461	-0.57;-0.57;-0.57	5.13	5.13	0.70059	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.979;0.997	D	0.89276	0.3608	10	0.87932	D	0	-21.5507	12.9397	0.58335	1.0:0.0:0.0:0.0	.	437;394	E9PIN3;Q9UBU9	.;NXF1_HUMAN	H	394;394;437	ENSP00000294172:Y394H;ENSP00000436679:Y394H;ENSP00000435742:Y437H	ENSP00000294172:Y394H	Y	-	1	0	NXF1	62320614	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	8.743000	0.91592	2.166000	0.68216	0.454000	0.30748	TAC		0.512	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362	Missense_Mutation
STX5	6811	broad.mit.edu	37	11	62575096	62575096	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:62575096C>T	ENST00000294179.3	-	11	1066	c.913G>A	c.(913-915)Gac>Aac	p.D305N	STX5_ENST00000394690.1_Missense_Mutation_p.D251N|NXF1_ENST00000294172.2_5'Flank|NXF1_ENST00000439713.2_5'Flank|NXF1_ENST00000531131.1_5'Flank|STX5_ENST00000541317.1_Missense_Mutation_p.D209N|NXF1_ENST00000531709.2_5'Flank|STX5_ENST00000377897.4_Silent_p.S317S|NXF1_ENST00000532297.1_5'Flank|RP11-727F15.13_ENST00000596971.1_RNA	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	305	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.D305N(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						ACGTTCTCGTCGATCCTGGGG	0.502																																					p.D305N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G913A	11						.						92.0	82.0	85.0					11																	62575096		2201	4299	6500	62331672	SO:0001583	missense	6811	exon11			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.913G>A	11.37:g.62575096C>T	ENSP00000294179:p.Asp305Asn		62331672	NM_003164	B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422786	0.83559	.	.	ENSG00000162236	ENST00000294179;ENST00000394690;ENST00000541317	T;T;T	0.29142	1.58;1.58;1.58	5.1	5.1	0.69264	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	H	0.97611	4.04	0.80722	D	1	D	0.60160	0.987	P	0.58873	0.847	T	0.80211	-0.1476	10	0.87932	D	0	-14.5256	16.3876	0.83521	0.0:1.0:0.0:0.0	.	305	Q13190	STX5_HUMAN	N	305;251;209	ENSP00000294179:D305N;ENSP00000378182:D251N;ENSP00000441428:D209N	ENSP00000294179:D305N	D	-	1	0	STX5	62331672	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.505000	0.81655	2.561000	0.86390	0.462000	0.41574	GAC		0.502	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164	
WDR74	54663	broad.mit.edu	37	11	62603451	62603451	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:62603451C>A	ENST00000525239.1	-	5	888	c.351G>T	c.(349-351)aaG>aaT	p.K117N	WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000278856.4_Missense_Mutation_p.K117N|WDR74_ENST00000529106.1_Missense_Mutation_p.K117N|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000311713.7_Missense_Mutation_p.K117N|RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000525752.1_Missense_Mutation_p.K60N			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	117					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.K117N(2)|p.K117K(1)		kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						AGGATGTGTCCTTGTCCTTGT	0.527																																					p.K117N												.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(3)	c.G351T	11						.						91.0	89.0	90.0					11																	62603451		1969	4169	6138	62360027	SO:0001583	missense	54663	exon5				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.351G>T	11.37:g.62603451C>A	ENSP00000432119:p.Lys117Asn		62360027	NM_018093	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	CCDS44630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.70|13.70	2.315626|2.315626	0.40996|0.40996	.|.	.|.	ENSG00000133316|ENSG00000133316	ENST00000535048|ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	.|T	.|0.47177	.|0.85	4.96|4.96	-1.53|-1.53	0.08611|0.08611	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.49916	.|D	.|0.000138	.|T	.|0.44685	.|0.1305	N|N	0.22421|0.22421	0.69|0.69	0.20975|0.20975	N|N	0.999819|0.999819	.|D;D;D;P	.|0.76494	.|0.999;0.998;0.998;0.728	.|D;D;D;P	.|0.83275	.|0.996;0.987;0.987;0.447	.|T	.|0.47129	.|-0.9141	.|10	.|0.16420	.|T	.|0.52	-25.3561|-25.3561	9.1529|9.1529	0.36973|0.36973	0.0:0.4956:0.0:0.5044|0.0:0.4956:0.0:0.5044	.|.	.|117;60;117;117	.|B4E018;E9PS41;Q6RFH5;Q6RFH5-2	.|.;.;WDR74_HUMAN;.	X|N	109|117;117;117;117;60	.|ENSP00000432113:K60N	.|ENSP00000278856:K117N	G|K	-|-	1|3	0|2	WDR74|WDR74	62360027|62360027	0.394000|0.394000	0.25246|0.25246	0.015000|0.015000	0.15790|0.15790	0.003000|0.003000	0.03518|0.03518	-0.624000|-0.624000	0.05540|0.05540	-0.378000|-0.378000	0.07918|0.07918	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.527	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093	
SLC22A25	387601	broad.mit.edu	37	11	62931431	62931431	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:62931431G>T	ENST00000306494.6	-	9	1508	c.1509C>A	c.(1507-1509)gtC>gtA	p.V503V	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.V503V(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GGATGGCAAAGACTCCATAGA	0.488																																					p.V503V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1509A	11						.						148.0	153.0	151.0					11																	62931431		2201	4298	6499	62688007	SO:0001819	synonymous_variant	387601	exon9			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1509C>A	11.37:g.62931431G>T			62688007	NM_199352		Silent	SNP	ENST00000306494.6	37	CCDS31592.1																																																																																				0.488	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	
SLC22A25	387601	broad.mit.edu	37	11	62984850	62984850	+	Nonsense_Mutation	SNP	G	G	A	rs143611231	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:62984850G>A	ENST00000306494.6	-	4	765	c.766C>T	c.(766-768)Cga>Tga	p.R256*	SLC22A25_ENST00000403374.2_Nonsense_Mutation_p.R90*|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25									p.R256*(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CACTGGTCTCGAATGACAAAA	0.443													G|||	6	0.00119808	0.0	0.0043	5008	,	,		21312	0.001		0.001	False		,,,				2504	0.001				p.R256X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C766T	11						.	G	stop/ARG	0,4402		0,0,2201	142.0	128.0	133.0		766	1.5	0.0	11	dbSNP_134	133	3,8593	3.7+/-12.6	0,3,4295	yes	stop-gained	SLC22A25	NM_199352.3		0,3,6496	AA,AG,GG		0.0349,0.0,0.0231		256/548	62984850	3,12995	2201	4298	6499	62741426	SO:0001587	stop_gained	387601	exon4			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.766C>T	11.37:g.62984850G>A	ENSP00000307443:p.Arg256*		62741426	NM_199352		Nonsense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	26.3	4.727201	0.89390	0.0	3.49E-4	ENSG00000196600	ENST00000306494;ENST00000403374	.	.	.	3.49	1.51	0.23008	.	0.136627	0.45867	D	0.000324	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0012	0.09580	0.1323:0.0:0.6344:0.2333	.	.	.	.	X	256;90	.	ENSP00000307443:R256X	R	-	1	2	SLC22A25	62741426	0.437000	0.25593	0.003000	0.11579	0.008000	0.06430	1.780000	0.38634	0.034000	0.15491	0.530000	0.56133	CGA		0.443	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352	
SLC22A12	116085	broad.mit.edu	37	11	64360259	64360259	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:64360259C>T	ENST00000377574.1	+	2	1158	c.411C>T	c.(409-411)ctC>ctT	p.L137L	SLC22A12_ENST00000377572.1_Silent_p.L137L|SLC22A12_ENST00000377567.2_Silent_p.L137L|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.L137L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	137					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.L137L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	AGTGGAACCTCGTGTGTGACT	0.642																																					p.L137L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C411T	11						.						155.0	129.0	138.0					11																	64360259		2201	4297	6498	64116835	SO:0001819	synonymous_variant	116085	exon2			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.411C>T	11.37:g.64360259C>T			64116835	NM_144585	B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	CCDS8075.1																																																																																				0.642	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585	
NRXN2	9379	broad.mit.edu	37	11	64434761	64434761	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:64434761C>T	ENST00000377551.1	-	8	1970	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K|NRXN2_ENST00000265459.6_Missense_Mutation_p.E587K			Q9P2S2	NRX2A_HUMAN	neurexin 2	587	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.E587K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACACCACTCGCCATCATTG	0.592																																					p.E587K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1759A	11						.						92.0	75.0	81.0					11																	64434761		2201	4297	6498	64191337	SO:0001583	missense	9379	exon9				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1759G>A	11.37:g.64434761C>T	ENSP00000366774:p.Glu587Lys		64191337	NM_015080	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087169	0.94100	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	4.61	4.61	0.57282	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42821	U	0.000657	T	0.80491	0.4633	L	0.28115	0.83	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.995;0.999	D;D;D	0.69479	0.964;0.936;0.909	T	0.83054	-0.0151	10	0.72032	D	0.01	.	14.9631	0.71171	0.0:1.0:0.0:0.0	.	556;587;333	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	K	587;556;587;556;580	ENSP00000366774:E587K;ENSP00000366782:E556K;ENSP00000265459:E587K;ENSP00000386416:E580K	ENSP00000265459:E587K	E	-	1	0	NRXN2	64191337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.637000	0.83313	2.383000	0.81215	0.448000	0.29417	GAG		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
NAALADL1	10004	broad.mit.edu	37	11	64824939	64824939	+	Silent	SNP	G	G	A	rs150755932		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:64824939G>A	ENST00000358658.3	-	4	534	c.507C>T	c.(505-507)ggC>ggT	p.G169G	NAALADL1_ENST00000356632.3_Silent_p.G169G|NAALADL1_ENST00000339885.2_Silent_p.G169G|NAALADL1_ENST00000355369.2_Silent_p.G169G|NAALADL1_ENST00000340252.4_Silent_p.G169G|NAALADL1_ENST00000355721.3_Intron	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.G169G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CTTCTTCCGCGCCCCGGTTGG	0.597																																					p.G169G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	11						.	G		1,4401	2.1+/-5.4	0,1,2200	117.0	90.0	99.0		507	0.4	0.0	11	dbSNP_134	99	0,8594		0,0,4297	no	coding-synonymous	NAALADL1	NM_005468.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		169/741	64824939	1,12995	2201	4297	6498	64581515	SO:0001819	synonymous_variant	10004	exon4			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.507C>T	11.37:g.64824939G>A			64581515	NM_005468	C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Silent	SNP	ENST00000358658.3	37	CCDS31604.1																																																																																				0.597	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468	
ZNHIT2	741	broad.mit.edu	37	11	64883942	64883942	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:64883942C>A	ENST00000310597.4	-	1	1228	c.1184G>T	c.(1183-1185)aGa>aTa	p.R395I	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	395							metal ion binding (GO:0046872)	p.R395I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						AATGAGAGTTCTTGGGGCAGG	0.597																																					p.R395I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1184T	11						.						79.0	85.0	83.0					11																	64883942		2201	4297	6498	64640518	SO:0001583	missense	741	exon1				CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.1184G>T	11.37:g.64883942C>A	ENSP00000308548:p.Arg395Ile		64640518	NM_014205	Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	C	9.449	1.090151	0.20390	.	.	ENSG00000174276	ENST00000310597	T	0.34859	1.34	4.79	-0.547	0.11836	.	0.465918	0.20491	U	0.091299	T	0.16811	0.0404	N	0.19112	0.55	0.30483	N	0.772167	P	0.41041	0.736	B	0.35550	0.205	T	0.14727	-1.0462	10	0.59425	D	0.04	-4.2018	4.5213	0.11960	0.0:0.4741:0.1573:0.3686	.	395	Q9UHR6	ZNHI2_HUMAN	I	395	ENSP00000308548:R395I	ENSP00000308548:R395I	R	-	2	0	ZNHIT2	64640518	0.063000	0.20901	0.151000	0.22473	0.153000	0.21895	-0.173000	0.09854	-0.013000	0.14199	-0.258000	0.10820	AGA		0.597	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205	
SF3B2	10992	broad.mit.edu	37	11	65829168	65829168	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:65829168C>T	ENST00000322535.6	+	15	1840	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	SF3B2_ENST00000528302.1_Silent_p.F580F	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	597					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.F597F(2)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGAAGGAGTTCGAGACACGAC	0.498																																					p.F597F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C1791T	11						.						115.0	112.0	113.0					11																	65829168		2201	4295	6496	65585744	SO:0001819	synonymous_variant	10992	exon15			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1791C>T	11.37:g.65829168C>T			65585744	NM_006842	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	9.297	1.052133	0.19827	.	.	ENSG00000087365	ENST00000530981	.	.	.	5.78	2.0	0.26442	.	.	.	.	.	T	0.55862	0.1947	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47812	-0.9088	4	.	.	.	-15.2353	8.1171	0.30950	0.0:0.2425:0.0:0.7575	.	.	.	.	L	18	.	.	S	+	2	0	SF3B2	65585744	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.619000	0.36965	0.426000	0.26116	-0.300000	0.09419	TCG		0.498	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		
SF3B2	10992	broad.mit.edu	37	11	65829412	65829412	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:65829412A>G	ENST00000322535.6	+	16	1969	c.1920A>G	c.(1918-1920)ggA>ggG	p.G640G	SF3B2_ENST00000528302.1_Silent_p.G623G	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	640					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.G640G(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGCGATATGGACCACCCCCAT	0.522																																					p.G640G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1920G	11						.						113.0	98.0	103.0					11																	65829412		2201	4295	6496	65585988	SO:0001819	synonymous_variant	10992	exon16			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1920A>G	11.37:g.65829412A>G			65585988	NM_006842	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	A	8.236	0.805832	0.16467	.	.	ENSG00000087365	ENST00000530981	.	.	.	5.8	2.3	0.28687	.	.	.	.	.	T	0.55657	0.1934	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44877	-0.9299	4	.	.	.	-15.5386	7.7928	0.29129	0.7499:0.0:0.2501:0.0	.	.	.	.	G	61	.	.	D	+	2	0	SF3B2	65585988	0.254000	0.23992	0.977000	0.42913	0.670000	0.39368	-0.360000	0.07622	0.152000	0.19188	0.528000	0.53228	GAC		0.522	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		
NPAS4	266743	broad.mit.edu	37	11	66190229	66190229	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:66190229G>A	ENST00000311034.2	+	4	691	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	172					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.R172Q(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ATTCGAGGCCGATTCCATGCT	0.597																																					p.R172Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G515A	11						.						116.0	111.0	113.0					11																	66190229		2200	4295	6495	65946805	SO:0001583	missense	266743	exon4			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.515G>A	11.37:g.66190229G>A	ENSP00000311196:p.Arg172Gln		65946805	NM_178864	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	36	5.630924	0.96682	.	.	ENSG00000174576	ENST00000311034	T	0.49139	0.79	5.74	5.74	0.90152	.	0.000000	0.47455	D	0.000234	T	0.56963	0.2021	L	0.31845	0.965	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.48969	-0.8987	10	0.27785	T	0.31	-7.6196	17.4135	0.87493	0.0:0.0:1.0:0.0	.	172	Q8IUM7	NPAS4_HUMAN	Q	172	ENSP00000311196:R172Q	ENSP00000311196:R172Q	R	+	2	0	NPAS4	65946805	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.568000	0.67385	2.702000	0.92279	0.655000	0.94253	CGA		0.597	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
BBS1	582	broad.mit.edu	37	11	66298379	66298379	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:66298379C>T	ENST00000318312.7	+	15	1539	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	BBS1_ENST00000455748.2_Silent_p.G399G|BBS1_ENST00000393994.2_Silent_p.G367G|CTD-3074O7.11_ENST00000419755.3_Silent_p.G533G|ZDHHC24_ENST00000526986.1_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	496					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.G496G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						AGGGCCTTGGCCCCACCTTTA	0.587									Bardet-Biedl syndrome																												p.G496G	GBM(152;173 2612 9770 10137)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1488T	11						.						193.0	162.0	172.0					11																	66298379		2200	4295	6495	66054955	SO:0001819	synonymous_variant	582	exon15	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1488C>T	11.37:g.66298379C>T			66054955	NM_024649	Q32MM9|Q32MN0|Q96SN4	Silent	SNP	ENST00000318312.7	37	CCDS8142.1																																																																																				0.587	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2		
SPTBN2	6712	broad.mit.edu	37	11	66453904	66453904	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:66453904C>T	ENST00000533211.1	-	37	7235	c.6904G>A	c.(6904-6906)Gat>Aat	p.D2302N	SPTBN2_ENST00000309996.2_Missense_Mutation_p.D2302N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D2302N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2302	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTTTTCCATCCTGTAAGCTG	0.542																																					p.D2302N												.	.	0			c.G6904A	11						.						191.0	168.0	176.0					11																	66453904		2200	4295	6495	66210480	SO:0001583	missense	6712	exon36			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6904G>A	11.37:g.66453904C>T	ENSP00000432568:p.Asp2302Asn		66210480	NM_006946	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.838205	0.71373	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.32023	1.47;1.47;1.47	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.062774	0.64402	D	0.000010	T	0.33644	0.0870	L	0.37850	1.14	0.80722	D	1	P	0.44659	0.84	P	0.46685	0.524	T	0.01090	-1.1455	10	0.22109	T	0.4	.	18.854	0.92244	0.0:1.0:0.0:0.0	.	2302	O15020	SPTN2_HUMAN	N	2302;2302;2302;846	ENSP00000432568:D2302N;ENSP00000311489:D2302N;ENSP00000433593:D2302N	ENSP00000311489:D2302N	D	-	1	0	SPTBN2	66210480	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	3.140000	0.50585	2.746000	0.94184	0.655000	0.94253	GAT		0.542	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946	
SSH3	54961	broad.mit.edu	37	11	67075398	67075398	+	Silent	SNP	C	C	A	rs183172990		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:67075398C>A	ENST00000308127.4	+	8	1051	c.873C>A	c.(871-873)gtC>gtA	p.V291V	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Silent_p.V291V	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	291					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.V291V(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGGAGAGTGTCACTTCCAAAG	0.622																																					p.V291V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C873A	11						.						67.0	66.0	66.0					11																	67075398		2200	4295	6495	66831974	SO:0001819	synonymous_variant	54961	exon8			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.873C>A	11.37:g.67075398C>A			66831974	NM_017857	Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	CCDS8157.1																																																																																				0.622	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276	
PPP6R3	55291	broad.mit.edu	37	11	68305355	68305355	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:68305355T>C	ENST00000393800.2	+	3	477	c.223T>C	c.(223-225)Tac>Cac	p.Y75H	PPP6R3_ENST00000393801.3_Missense_Mutation_p.Y75H|PPP6R3_ENST00000524904.1_Missense_Mutation_p.Y75H|PPP6R3_ENST00000265636.5_Missense_Mutation_p.Y75H|PPP6R3_ENST00000529710.1_Missense_Mutation_p.Y75H|PPP6R3_ENST00000524845.1_Missense_Mutation_p.Y75H|PPP6R3_ENST00000265637.4_Missense_Mutation_p.Y75H|PPP6R3_ENST00000393799.2_Missense_Mutation_p.Y75H|PPP6R3_ENST00000527403.2_Missense_Mutation_p.Y75H|PPP6R3_ENST00000534534.1_Intron	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	75					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.Y75H(2)		breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AAAGATCAGATACAAGTAAGA	0.388																																					p.Y75H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T223C	11						.						59.0	60.0	59.0					11																	68305355		2199	4294	6493	68061931	SO:0001583	missense	55291	exon4			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.223T>C	11.37:g.68305355T>C	ENSP00000377389:p.Tyr75His		68061931	NM_001164164	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758319	0.89843	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;1.77;1.76;-0.23	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83575	0.5284	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.993;0.996;0.984;0.999;0.993	D	0.86007	0.1498	10	0.54805	T	0.06	.	15.1967	0.73096	0.0:0.0:0.0:1.0	.	75;75;75;75;75;75	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	H	75	ENSP00000377388:Y75H;ENSP00000377389:Y75H;ENSP00000431415:Y75H;ENSP00000265637:Y75H;ENSP00000433058:Y75H;ENSP00000377390:Y75H;ENSP00000265636:Y75H;ENSP00000437329:Y75H;ENSP00000433565:Y75H	ENSP00000265636:Y75H	Y	+	1	0	PPP6R3	68061931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.774000	0.85478	2.182000	0.69389	0.460000	0.39030	TAC		0.388	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	
MTL5	9633	broad.mit.edu	37	11	68509809	68509809	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:68509809T>G	ENST00000255087.5	-	5	988	c.805A>C	c.(805-807)Aaa>Caa	p.K269Q	MTL5_ENST00000544963.1_Missense_Mutation_p.K269Q|MTL5_ENST00000443940.2_Intron|MTL5_ENST00000540869.1_Intron	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	269					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K269Q(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			AGATTTAATTTTGTTGATGCT	0.289																																					p.K269Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A805C	11						.						84.0	82.0	83.0					11																	68509809		2199	4294	6493	68266385	SO:0001583	missense	9633	exon5			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.805A>C	11.37:g.68509809T>G	ENSP00000255087:p.Lys269Gln		68266385	NM_001039656	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795524	0.70452	.	.	ENSG00000132749	ENST00000255087;ENST00000544963	T;T	0.37752	1.37;1.18	5.23	5.23	0.72850	.	0.000000	0.53938	D	0.000054	T	0.42562	0.1208	L	0.34521	1.04	0.33086	D	0.537266	D	0.71674	0.998	P	0.60682	0.878	T	0.50792	-0.8786	10	0.25106	T	0.35	-15.3107	12.4858	0.55872	0.0:0.0:0.0:1.0	.	269	Q9Y4I5	MTL5_HUMAN	Q	269	ENSP00000255087:K269Q;ENSP00000440968:K269Q	ENSP00000255087:K269Q	K	-	1	0	MTL5	68266385	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.918000	0.56432	1.986000	0.57962	0.533000	0.62120	AAA		0.289	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923	
NUMA1	4926	broad.mit.edu	37	11	71729485	71729485	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:71729485G>A	ENST00000393695.3	-	11	1148	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	NUMA1_ENST00000351960.6_Silent_p.L273L|NUMA1_ENST00000358965.6_Silent_p.L273L|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTGGGCTCCAGTGGGCTGGCC	0.622			T	RARA	APL																																p.L273L			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	.	.	0			c.C817T	11						.						46.0	44.0	45.0					11																	71729485		2200	4293	6493	71407133	SO:0001819	synonymous_variant	4926	exon11			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.817C>T	11.37:g.71729485G>A			71407133	NM_006185		Silent	SNP	ENST00000393695.3	37	CCDS31633.1																																																																																				0.622	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1		
ARHGEF17	9828	broad.mit.edu	37	11	73066619	73066619	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:73066619C>T	ENST00000263674.3	+	4	3845	c.3495C>T	c.(3493-3495)atC>atT	p.I1165I	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1165	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I1165I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTGCCTATATCGATAACTTCC	0.552																																					p.I1165I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3495T	11						.						125.0	106.0	112.0					11																	73066619		2200	4293	6493	72744267	SO:0001819	synonymous_variant	9828	exon4			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3495C>T	11.37:g.73066619C>T			72744267	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	CCDS8221.1																																																																																				0.552	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
PAAF1	80227	broad.mit.edu	37	11	73598466	73598466	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:73598466A>C	ENST00000310571.3	+	3	209	c.156A>C	c.(154-156)acA>acC	p.T52T	PAAF1_ENST00000376384.5_Silent_p.T35T|PAAF1_ENST00000536003.1_Silent_p.T35T|PAAF1_ENST00000544552.1_Silent_p.T35T|PAAF1_ENST00000544909.1_5'Flank|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000543079.1_3'UTR	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	52					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.T52T(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CAGAGGTTACAGCTTCAGAAG	0.378																																					p.T52T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A156C	11						.						116.0	109.0	112.0					11																	73598466		2200	4293	6493	73276114	SO:0001819	synonymous_variant	80227	exon3			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.156A>C	11.37:g.73598466A>C			73276114	NM_025155	A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Silent	SNP	ENST00000310571.3	37	CCDS8226.1																																																																																				0.378	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155	
DNAJB13	374407	broad.mit.edu	37	11	73670675	73670675	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:73670675C>A	ENST00000339764.1	+	3	1060	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	103					protein folding (GO:0006457)			p.F103L(1)		large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TCCACGAGTTCTTTGGTGGAA	0.488																																					p.F103L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C309A	11						.						98.0	85.0	89.0					11																	73670675		2200	4293	6493	73348323	SO:0001583	missense	374407	exon3			AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.309C>A	11.37:g.73670675C>A	ENSP00000344431:p.Phe103Leu		73348323	NM_153614	B3LEP4|Q8IZW5	Missense_Mutation	SNP	ENST00000339764.1	37	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.002884	0.74932	.	.	ENSG00000187726	ENST00000339764	T	0.60797	0.16	6.03	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.75077	-0.3445	10	0.45353	T	0.12	.	8.6175	0.33840	0.0:0.827:0.0:0.173	.	103	P59910	DJB13_HUMAN	L	103	ENSP00000344431:F103L	ENSP00000344431:F103L	F	+	3	2	DNAJB13	73348323	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	1.769000	0.38522	1.543000	0.49345	0.645000	0.84053	TTC		0.488	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614	
XRRA1	143570	broad.mit.edu	37	11	74563071	74563071	+	Silent	SNP	G	G	A	rs188659360	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:74563071G>A	ENST00000340360.6	-	13	1534	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	XRRA1_ENST00000321448.8_Silent_p.F126F|XRRA1_ENST00000527087.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1									p.F401F(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TATGAAAGACGAACTCGCAGA	0.547													G|||	3	0.000599042	0.0	0.0	5008	,	,		21839	0.003		0.0	False		,,,				2504	0.0				p.F401F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1203T	11						.						145.0	145.0	145.0					11																	74563071		2031	4180	6211	74240719	SO:0001819	synonymous_variant	143570	exon13			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1203C>T	11.37:g.74563071G>A			74240719	NM_182969		Silent	SNP	ENST00000340360.6	37	CCDS44680.1																																																																																				0.547	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969	
SERPINH1	871	broad.mit.edu	37	11	75280097	75280097	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:75280097G>A	ENST00000524558.1	+	4	2270	c.835G>A	c.(835-837)Gag>Aag	p.E279K	SERPINH1_ENST00000525876.1_Missense_Mutation_p.E62K|SERPINH1_ENST00000530284.1_Missense_Mutation_p.E279K|SERPINH1_ENST00000533603.1_Missense_Mutation_p.E279K|SERPINH1_ENST00000358171.3_Missense_Mutation_p.E279K			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	279					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E279K(1)		endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GGAGCCTCTCGAGCGCCTTGA	0.557																																					p.E279K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G835A	11						.						82.0	75.0	77.0					11																	75280097		2200	4293	6493	74957745	SO:0001583	missense	871	exon4			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.835G>A	11.37:g.75280097G>A	ENSP00000434412:p.Glu279Lys		74957745	NM_001235	B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	CCDS8239.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396982	0.62177	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000421448;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000525876	D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.54	5.54	0.83059	Serpin domain (3);	0.283504	0.38436	N	0.001691	T	0.78477	0.4289	L	0.35414	1.06	0.80722	D	1	P;P	0.40660	0.726;0.676	B;B	0.37888	0.26;0.143	T	0.76383	-0.2979	10	0.21014	T	0.42	.	16.981	0.86327	0.0:0.0:1.0:0.0	.	279;279	E9PPV6;P50454	.;SERPH_HUMAN	K	279;279;258;279;279;279;62	ENSP00000434657:E279K;ENSP00000350894:E279K;ENSP00000436305:E279K;ENSP00000436040:E279K;ENSP00000434412:E279K;ENSP00000433532:E62K	ENSP00000350894:E279K	E	+	1	0	SERPINH1	74957745	1.000000	0.71417	0.965000	0.40720	0.951000	0.60555	9.864000	0.99589	2.604000	0.88044	0.655000	0.94253	GAG		0.557	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353	
C11orf30	56946	broad.mit.edu	37	11	76158035	76158035	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:76158035G>T	ENST00000529032.1	+	1	53	c.53G>T	c.(52-54)aGa>aTa	p.R18I	C11orf30_ENST00000524767.1_Missense_Mutation_p.R18I|C11orf30_ENST00000533248.1_Missense_Mutation_p.R18I|RP11-111M22.3_ENST00000572035.1_lincRNA|C11orf30_ENST00000334736.3_Missense_Mutation_p.R18I|C11orf30_ENST00000524490.1_Missense_Mutation_p.R18I|C11orf30_ENST00000343878.3_Missense_Mutation_p.R18I|C11orf30_ENST00000525919.1_Missense_Mutation_p.R18I|C11orf30_ENST00000533988.1_Missense_Mutation_p.R18I|C11orf30_ENST00000525959.1_3'UTR|C11orf30_ENST00000525038.1_Missense_Mutation_p.R18I			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	18	ENT. {ECO:0000255|PROSITE- ProRule:PRU00476}.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R18I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAATGCAAAAGAATTCTTCGA	0.448																																					p.R18I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53T	11						.						154.0	136.0	142.0					11																	76158035		2200	4292	6492	75835683	SO:0001583	missense	56946	exon2			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.53G>T	11.37:g.76158035G>T	ENSP00000432327:p.Arg18Ile		75835683	NM_020193	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970484	0.74246	.	.	ENSG00000158636	ENST00000533988;ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000533972;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	6.06	6.06	0.98353	EMSY N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.76494	0.993;0.993;0.993;0.997;0.997;0.999;0.993;0.999;0.965	D;D;D;D;D;D;D;D;D	0.80764	0.986;0.986;0.986;0.984;0.984;0.994;0.986;0.994;0.944	T	0.77236	-0.2662	9	0.66056	D	0.02	-7.1584	19.3923	0.94587	0.0:0.0:1.0:0.0	.	18;18;18;18;18;18;18;18;18	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589;B4E1Z2	.;.;.;.;.;.;.;EMSY_HUMAN;.	I	18	.	ENSP00000334130:R18I	R	+	2	0	C11orf30	75835683	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.234000	0.89801	2.882000	0.98803	0.655000	0.94253	AGA		0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193	
C11orf30	56946	broad.mit.edu	37	11	76257124	76257124	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:76257124C>A	ENST00000529032.1	+	19	3557	c.3557C>A	c.(3556-3558)tCa>tAa	p.S1186*	C11orf30_ENST00000524767.1_Nonsense_Mutation_p.S1201*|C11orf30_ENST00000533248.1_Nonsense_Mutation_p.S1095*|C11orf30_ENST00000334736.3_Nonsense_Mutation_p.S1186*|C11orf30_ENST00000524490.1_Nonsense_Mutation_p.S1088*|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525919.1_Nonsense_Mutation_p.S1187*|C11orf30_ENST00000525038.1_Nonsense_Mutation_p.S1187*			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1186					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S1186*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAAGCAGGATCATTACCCTCC	0.493																																					p.S1186X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3557A	11						.						89.0	89.0	89.0					11																	76257124		2200	4292	6492	75934772	SO:0001587	stop_gained	56946	exon20			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3557C>A	11.37:g.76257124C>A	ENSP00000432327:p.Ser1186*		75934772	NM_020193	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Nonsense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.262631|4.262631	0.80358|0.80358	.|.	.|.	ENSG00000158636|ENSG00000158636	ENST00000531793|ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.442667	.|0.25256	.|N	.|0.031989	T|.	0.49592|.	0.1566|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35001|.	-0.9806|.	4|.	.|0.05959	.|T	.|0.93	-0.5367|-0.5367	18.8049|18.8049	0.92032|0.92032	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	N|X	45|1088;1186;868;1201;1095;1187;1187;1186	.|.	.|ENSP00000334130:S1186X	H|S	+|+	1|2	0|0	C11orf30|C11orf30	75934772|75934772	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.743000|3.743000	0.55104|0.55104	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	CAT|TCA		0.493	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193	
CAPN5	726	broad.mit.edu	37	11	76825400	76825400	+	Missense_Mutation	SNP	G	G	A	rs367724731		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:76825400G>A	ENST00000278559.3	+	5	808	c.619G>A	c.(619-621)Gat>Aat	p.D207N	CAPN5_ENST00000456580.2_Missense_Mutation_p.D247N|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.D207N	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	207	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.D207N(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTTTGCCAACGATGAGACTAA	0.582											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D207N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G619A	11						.						271.0	253.0	259.0					11																	76825400		2200	4292	6492	76503048	SO:0001583	missense	726	exon5				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.619G>A	11.37:g.76825400G>A	ENSP00000278559:p.Asp207Asn	1171	76503048	NM_004055	O00263	Missense_Mutation	SNP	ENST00000278559.3	37	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550636	0.27739	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D	0.89746	-2.48;-2.48;-2.56	4.72	4.72	0.59763	Peptidase C2, calpain, catalytic domain (3);	0.225686	0.44688	D	0.000433	D	0.88559	0.6469	M	0.73217	2.22	0.80722	D	1	P;P;P;P	0.45634	0.863;0.461;0.611;0.688	B;B;B;B	0.42851	0.4;0.231;0.222;0.275	D	0.87064	0.2155	10	0.22109	T	0.4	.	16.8563	0.86007	0.0:0.0:1.0:0.0	.	245;247;247;207	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	N	207;247;207;247;247	ENSP00000278559:D207N;ENSP00000432332:D207N;ENSP00000409996:D247N	ENSP00000278559:D207N	D	+	1	0	CAPN5	76503048	1.000000	0.71417	0.057000	0.19452	0.129000	0.20672	7.436000	0.80404	2.438000	0.82558	0.655000	0.94253	GAT		0.582	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055	
GDPD4	220032	broad.mit.edu	37	11	76940202	76940202	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:76940202A>C	ENST00000376217.2	-	14	1715	c.1465T>G	c.(1465-1467)Ttt>Gtt	p.F489V	GDPD4_ENST00000315938.4_Missense_Mutation_p.F489V			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	489					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.F489V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TACCAGTGAAAACAAAATATG	0.294																																					p.F489V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1465G	11						.						35.0	32.0	33.0					11																	76940202		2200	4292	6492	76617850	SO:0001583	missense	220032	exon14			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1465T>G	11.37:g.76940202A>C	ENSP00000365390:p.Phe489Val		76617850	NM_182833	Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	37		.	.	.	.	.	.	.	.	.	.	A	15.02	2.709368	0.48517	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.32023	1.47;1.47	5.16	2.8	0.32819	.	0.594716	0.18687	N	0.133963	T	0.43612	0.1255	M	0.77103	2.36	0.25210	N	0.989989	D	0.55605	0.972	P	0.56398	0.797	T	0.37776	-0.9691	10	0.72032	D	0.01	-6.8223	3.3348	0.07097	0.6124:0.0:0.2206:0.167	.	489	Q6W3E5-2	.	V	489	ENSP00000365390:F489V;ENSP00000320815:F489V	ENSP00000320815:F489V	F	-	1	0	GDPD4	76617850	0.998000	0.40836	0.681000	0.30009	0.649000	0.38597	2.442000	0.44873	0.368000	0.24481	-0.336000	0.08194	TTT		0.294	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	
GDPD4	220032	broad.mit.edu	37	11	76982358	76982358	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:76982358T>C	ENST00000376217.2	-	5	538	c.288A>G	c.(286-288)gtA>gtG	p.V96V	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Silent_p.V96V			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	96					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.V96V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ACAGCCCAGCTACCAGCCACC	0.418																																					p.V96V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A288G	11						.						120.0	106.0	110.0					11																	76982358		2200	4292	6492	76660006	SO:0001819	synonymous_variant	220032	exon5			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.288A>G	11.37:g.76982358T>C			76660006	NM_182833	Q7Z5B0	Silent	SNP	ENST00000376217.2	37																																																																																					0.418	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	
KCTD21	283219	broad.mit.edu	37	11	77885523	77885523	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:77885523G>A	ENST00000340067.3	-	2	356	c.78C>T	c.(76-78)gaC>gaT	p.D26D	KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	26	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.D26D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	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;1.46e-24)			CTAGCATGGAGTCAGGGAAGC	0.587																																					p.D26D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C78T	11						.						84.0	64.0	71.0					11																	77885523		2200	4292	6492	77563171	SO:0001819	synonymous_variant	283219	exon2			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.78C>T	11.37:g.77885523G>A			77563171	NM_001029859	B4DTR0	Silent	SNP	ENST00000340067.3	37	CCDS31645.1																																																																																				0.587	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859	
NARS2	79731	broad.mit.edu	37	11	78147847	78147847	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:78147847G>A	ENST00000281038.5	-	14	1678	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C	NARS2_ENST00000528850.1_Missense_Mutation_p.R208C|RP11-452H21.1_ENST00000534168.1_RNA	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	435					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)	p.R435C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCAAATCGACGAAGGTCCAGA	0.358																																					p.R435C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1303T	11						.						172.0	173.0	173.0					11																	78147847		2200	4292	6492	77825495	SO:0001583	missense	79731	exon14			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1303C>T	11.37:g.78147847G>A	ENSP00000281038:p.Arg435Cys		77825495	NM_024678	G3V178	Missense_Mutation	SNP	ENST00000281038.5	37	CCDS8261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.4|24.4	4.526778|4.526778	0.85706|0.85706	.|.	.|.	ENSG00000137513|ENSG00000137513	ENST00000281038;ENST00000528850|ENST00000529771	D;D|.	0.85258|.	-1.96;-1.96|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);|.	0.048793|.	0.85682|.	N|.	0.000000|.	D|D	0.90314|0.90314	0.6970|0.6970	H|H	0.96805|0.96805	3.885|3.885	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.92898|0.92898	0.6337|0.6337	10|5	0.87932|.	D|.	0|.	-14.5891|-14.5891	19.994|19.994	0.97377|0.97377	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	435|.	Q96I59|.	SYNM_HUMAN|.	C|L	435;208|38	ENSP00000281038:R435C;ENSP00000432635:R208C|.	ENSP00000281038:R435C|.	R|S	-|-	1|2	0|0	NARS2|NARS2	77825495|77825495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.789000|5.789000	0.69029|0.69029	2.716000|2.716000	0.92895|0.92895	0.591000|0.591000	0.81541|0.81541	CGT|TCG		0.358	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678	
TENM4	26011	broad.mit.edu	37	11	78381417	78381417	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:78381417G>A	ENST00000278550.7	-	32	6435	c.5973C>T	c.(5971-5973)gaC>gaT	p.D1991D		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1991					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.D1991D(2)									CCTCAGTGAAGTCCTGTATGA	0.557																																					p.D1991D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C5973T	11						.						63.0	63.0	63.0					11																	78381417		2016	4160	6176	78059065	SO:0001819	synonymous_variant	26011	exon32			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5973C>T	11.37:g.78381417G>A			78059065	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.557	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
DDIAS	220042	broad.mit.edu	37	11	82625802	82625802	+	Missense_Mutation	SNP	C	C	A	rs143540019		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:82625802C>A	ENST00000533655.1	+	3	234	c.22C>A	c.(22-24)Ctt>Att	p.L8I	C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000525388.1_Missense_Mutation_p.L8I|C11orf82_ENST00000525361.1_Missense_Mutation_p.L8I|C11orf82_ENST00000524921.1_Missense_Mutation_p.L8I|C11orf82_ENST00000430323.2_Missense_Mutation_p.L8I|C11orf82_ENST00000528759.1_Missense_Mutation_p.L8I	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		8					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L8I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACGAAAATTTCTTCTAGCCTC	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19252	0.0		0.0	False		,,,				2504	0.0				p.L8I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C22A	11						.						112.0	104.0	107.0					11																	82625802		2203	4300	6503	82303450	SO:0001583	missense	220042	exon3																														ENST00000533655.1:c.22C>A	11.37:g.82625802C>A	ENSP00000435421:p.Leu8Ile		82303450	NM_145018	Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	CCDS8263.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.73	3.203235	0.58234	.	.	ENSG00000165490	ENST00000532277;ENST00000524921;ENST00000528759;ENST00000525361;ENST00000430323;ENST00000533655;ENST00000532764;ENST00000532589;ENST00000525388;ENST00000528262	T;T	0.20463	2.07;2.07	5.48	3.43	0.39272	Nucleic acid-binding, OB-fold-like (1);	0.374862	0.24393	N	0.038901	T	0.25754	0.0627	L	0.47716	1.5	0.80722	D	1	P;P	0.50528	0.75;0.936	B;P	0.53988	0.292;0.739	T	0.02064	-1.1220	9	.	.	.	.	5.6758	0.17747	0.3532:0.5568:0.0:0.09	.	8;8	Q8IXT1-2;Q8IXT1	.;NOXIN_HUMAN	I	8;8;8;8;8;8;69;8;8;8	ENSP00000414687:L8I;ENSP00000435421:L8I	.	L	+	1	0	C11orf82	82303450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.812000	0.27211	1.231000	0.43661	0.655000	0.94253	CTT		0.388	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1		
PCF11	51585	broad.mit.edu	37	11	82879675	82879675	+	Silent	SNP	G	G	A	rs368877028	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:82879675G>A	ENST00000298281.4	+	8	2750	c.2298G>A	c.(2296-2298)acG>acA	p.T766T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	766	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.T766T(2)|p.T865T(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATGGCCCAACGAAGATGATTT	0.488													G|||	24	0.00479233	0.0	0.0	5008	,	,		18530	0.0		0.0	False		,,,				2504	0.0245				p.T766T												.	.	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)	c.G2298A	11						.	G		4,3776		0,4,1886	104.0	102.0	102.0		2298	2.8	1.0	11		102	0,8232		0,0,4116	no	coding-synonymous	PCF11	NM_015885.3		0,4,6002	AA,AG,GG		0.0,0.1058,0.0333		766/1556	82879675	4,12008	1890	4116	6006	82557323	SO:0001819	synonymous_variant	51585	exon8			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2298G>A	11.37:g.82879675G>A			82557323	NM_015885	A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	CCDS44689.1																																																																																				0.488	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885	
DLG2	1740	broad.mit.edu	37	11	83544806	83544806	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:83544806G>A	ENST00000532653.1	-	12	1560	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	DLG2_ENST00000376104.2_Missense_Mutation_p.R525C|DLG2_ENST00000531015.1_Missense_Mutation_p.R387C|DLG2_ENST00000330014.6_Missense_Mutation_p.R359C|DLG2_ENST00000537455.1_Missense_Mutation_p.R174C|DLG2_ENST00000398309.2_Missense_Mutation_p.R420C|DLG2_ENST00000398301.2_Missense_Mutation_p.R459C|DLG2_ENST00000418306.2_Missense_Mutation_p.R317C|DLG2_ENST00000524982.1_Missense_Mutation_p.R420C|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.R459C|DLG2_ENST00000543673.1_Missense_Mutation_p.R525C			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.R420C(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACTACCTTGCGAGGCTCTCTG	0.458																																					p.R317C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C949T	11						.						62.0	66.0	65.0					11																	83544806		2199	4298	6497	83222454	SO:0001583	missense	1740	exon9			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1258C>T	11.37:g.83544806G>A	ENSP00000435849:p.Arg420Cys		83222454	NM_001142700	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	G	21.5	4.154373	0.78114	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.25	5.25	0.73442	PDZ/DHR/GLGF (1);	0.000000	0.64402	D	0.000011	T	0.59756	0.2217	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.972;0.999;0.993;0.987;0.993;0.998;1.0;0.969	T	0.58440	-0.7636	9	.	.	.	.	18.8671	0.92296	0.0:0.0:1.0:0.0	.	387;420;420;359;459;525;420;317	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	C	420;525;317;525;459;359;174;420;420;525;387;459	ENSP00000381355:R420C;ENSP00000365272:R525C;ENSP00000402275:R317C;ENSP00000441994:R525C;ENSP00000280241:R459C;ENSP00000381353:R359C;ENSP00000443248:R174C;ENSP00000432894:R420C;ENSP00000435849:R420C;ENSP00000433848:R387C;ENSP00000381346:R459C	.	R	-	1	0	DLG2	83222454	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.760000	0.68793	2.467000	0.83353	0.655000	0.94253	CGC		0.458	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
DLG2	1740	broad.mit.edu	37	11	83691622	83691622	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:83691622T>A	ENST00000532653.1	-	7	970	c.668A>T	c.(667-669)tAt>tTt	p.Y223F	DLG2_ENST00000376104.2_Missense_Mutation_p.Y328F|DLG2_ENST00000531015.1_Missense_Mutation_p.Y190F|DLG2_ENST00000330014.6_Missense_Mutation_p.Y162F|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000398309.2_Missense_Mutation_p.Y223F|DLG2_ENST00000398301.2_Missense_Mutation_p.Y262F|DLG2_ENST00000418306.2_Missense_Mutation_p.Y172F|DLG2_ENST00000524982.1_Missense_Mutation_p.Y223F|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.Y262F|DLG2_ENST00000543673.1_Missense_Mutation_p.Y328F			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	187	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.Y223F(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTTAGTTACATAAATGCTGTT	0.408																																					p.Y172F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A515T	11						.						186.0	173.0	177.0					11																	83691622		1892	4103	5995	83369270	SO:0001583	missense	1740	exon5			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.668A>T	11.37:g.83691622T>A	ENSP00000435849:p.Tyr223Phe		83369270	NM_001142700	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	T	23.5	4.429641	0.83776	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.71	5.71	0.89125	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000004	T	0.30823	0.0777	N	0.10618	0.005	0.80722	D	1	D;P;B;B;P;D;B;D	0.76494	0.999;0.611;0.109;0.04;0.949;0.998;0.068;0.998	D;P;P;B;D;D;B;D	0.91635	0.999;0.74;0.478;0.066;0.987;0.997;0.195;0.999	T	0.30995	-0.9959	9	.	.	.	.	15.9795	0.80097	0.0:0.0:0.0:1.0	.	190;223;223;162;262;328;223;172	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	F	223;328;172;328;262;162;223;223;328;190;262;140	ENSP00000381355:Y223F;ENSP00000365272:Y328F;ENSP00000402275:Y172F;ENSP00000441994:Y328F;ENSP00000280241:Y262F;ENSP00000381353:Y162F;ENSP00000432894:Y223F;ENSP00000435849:Y223F;ENSP00000433848:Y190F;ENSP00000381346:Y262F;ENSP00000381344:Y140F	.	Y	-	2	0	DLG2	83369270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.897000	0.69831	2.168000	0.68352	0.477000	0.44152	TAT		0.408	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
SYTL2	54843	broad.mit.edu	37	11	85437421	85437421	+	Intron	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:85437421T>C	ENST00000528231.1	-	7	1737				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.N551D|SYTL2_ENST00000525423.1_Missense_Mutation_p.N27D|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.N27D	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.N27D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTGTTTGAATTAGCTTCTAAG	0.358																																					p.N27D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A79G	11						.						86.0	83.0	84.0					11																	85437421		2203	4299	6502	85115069	SO:0001627	intron_variant	54843	exon1			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1517A>G	11.37:g.85437421T>C			85115069	NM_206927	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	T	14.62	2.589112	0.46110	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.31247	1.51;1.5;1.51	5.7	0.101	0.14517	.	0.972752	0.08541	N	0.930571	T	0.18045	0.0433	N	0.19112	0.55	0.09310	N	1	B;B;B	0.22003	0.063;0.023;0.023	B;B;B	0.18871	0.023;0.023;0.023	T	0.31586	-0.9938	9	.	.	.	-0.5413	8.1401	0.31078	0.0:0.0693:0.3861:0.5446	.	27;27;27	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	D	551;27;27	ENSP00000352065:N551D;ENSP00000346576:N27D;ENSP00000432694:N27D	.	N	-	1	0	SYTL2	85115069	0.963000	0.33076	0.125000	0.21846	0.714000	0.41099	0.394000	0.20834	0.044000	0.15775	0.533000	0.62120	AAT		0.358	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
PRSS23	11098	broad.mit.edu	37	11	86519563	86519563	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:86519563G>A	ENST00000280258.5	+	2	1303	c.878G>A	c.(877-879)cGc>cAc	p.R293H	PRSS23_ENST00000441050.1_Missense_Mutation_p.R261H|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	293						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.R293H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGGTGTATCGCTTCTGTGAC	0.537																																					p.R293H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G878A	11						.						101.0	103.0	102.0					11																	86519563		2201	4299	6500	86197211	SO:0001583	missense	11098	exon2			AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.878G>A	11.37:g.86519563G>A	ENSP00000280258:p.Arg293His		86197211	NM_007173	B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964155	0.92791	.	.	ENSG00000150687	ENST00000280258;ENST00000441050	T;T	0.43294	0.95;0.95	6.17	6.17	0.99709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72714	-0.4210	9	.	.	.	-27.4484	20.8794	0.99867	0.0:0.0:1.0:0.0	.	261;293	B4E2J3;O95084	.;PRS23_HUMAN	H	293;261	ENSP00000280258:R293H;ENSP00000393015:R261H	.	R	+	2	0	PRSS23	86197211	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	CGC		0.537	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173	
CTSC	1075	broad.mit.edu	37	11	88045716	88045716	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:88045716C>A	ENST00000227266.5	-	3	439	c.325G>T	c.(325-327)Gaa>Taa	p.E109*		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	109					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)	p.E109*(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGCCCTCTTCTTTATACTGC	0.448																																					p.E109X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G325T	11						.						145.0	140.0	142.0					11																	88045716		2201	4299	6500	87685364	SO:0001587	stop_gained	1075	exon3			AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.325G>T	11.37:g.88045716C>A	ENSP00000227266:p.Glu109*		87685364	NM_001814	A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Nonsense_Mutation	SNP	ENST00000227266.5	37	CCDS8282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.76|19.76	3.888051|3.888051	0.72524|0.72524	.|.	.|.	ENSG00000109861|ENSG00000109861	ENST00000393302;ENST00000227266|ENST00000527018	.|D	.|0.88896	.|-2.44	5.97|5.97	-2.85|-2.85	0.05734|0.05734	.|.	0.925302|.	0.09334|.	N|.	0.816416|.	.|D	.|0.87989	.|0.6317	.|.	.|.	.|.	0.36366|0.36366	D|D	0.860995|0.860995	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.84506	.|0.0619	.|5	.|.	.|.	.|.	.|.	12.1789|12.1789	0.54202|0.54202	0.0:0.3023:0.5612:0.1365|0.0:0.3023:0.5612:0.1365	.|.	.|.	.|.	.|.	X|N	92;109|65	.|ENSP00000432556:K65N	.|.	E|K	-|-	1|3	0|2	CTSC|CTSC	87685364|87685364	0.211000|0.211000	0.23529|0.23529	0.946000|0.946000	0.38457|0.38457	0.977000|0.977000	0.68977|0.68977	-0.677000|-0.677000	0.05215|0.05215	-0.113000|-0.113000	0.11958|0.11958	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.448	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814	
NOX4	50507	broad.mit.edu	37	11	89070625	89070625	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:89070625T>A	ENST00000263317.4	-	16	1743	c.1505A>T	c.(1504-1506)gAt>gTt	p.D502V	NOX4_ENST00000527626.1_Missense_Mutation_p.D315V|NOX4_ENST00000375979.3_Missense_Mutation_p.D195V|NOX4_ENST00000528341.1_Missense_Mutation_p.D477V|NOX4_ENST00000542487.1_Missense_Mutation_p.D478V|NOX4_ENST00000525196.1_Missense_Mutation_p.D266V|NOX4_ENST00000343727.5_Missense_Mutation_p.D478V|NOX4_ENST00000534731.1_Missense_Mutation_p.D462V|NOX4_ENST00000532825.1_Missense_Mutation_p.D438V|NOX4_ENST00000535633.1_Missense_Mutation_p.D478V|NOX4_ENST00000413594.2_Missense_Mutation_p.D523V|NOX4_ENST00000424319.1_Missense_Mutation_p.D478V|NOX4_ENST00000527956.1_Missense_Mutation_p.D478V|NOX4_ENST00000531342.1_Missense_Mutation_p.D155V			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	502	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.D502V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTGTATCCCATCTGTTTGACT	0.403																																					p.D502V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1505T	11						.						66.0	60.0	62.0					11																	89070625		2201	4296	6497	88710273	SO:0001583	missense	50507	exon16			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1505A>T	11.37:g.89070625T>A	ENSP00000263317:p.Asp502Val		88710273	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.869745	0.72065	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.57;-3.57;-3.67;-3.57;-3.67;-3.67;-3.67;-3.67;-3.67;-3.57;-3.67	5.18	5.18	0.71444	Ferric reductase, NAD binding (1);	0.235594	0.41500	D	0.000867	D	0.96160	0.8748	M	0.63428	1.95	0.80722	D	1	B;P;D;D;P;P;B;P	0.67145	0.096;0.605;0.996;0.988;0.918;0.733;0.074;0.757	B;P;D;D;P;B;B;P	0.66847	0.087;0.464;0.947;0.914;0.507;0.231;0.072;0.718	D	0.95816	0.8845	9	.	.	.	-2.7138	14.7147	0.69259	0.0:0.0:0.0:1.0	.	438;315;477;266;155;195;462;502	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	V	478;478;478;462;266;502;438;478;478;315;477;523;155;195	ENSP00000412446:D478V;ENSP00000440172:D478V;ENSP00000344747:D478V;ENSP00000436892:D462V;ENSP00000436716:D266V;ENSP00000263317:D502V;ENSP00000434924:D438V;ENSP00000433797:D478V;ENSP00000439373:D478V;ENSP00000436093:D315V;ENSP00000436970:D477V;ENSP00000405705:D523V;ENSP00000435039:D155V;ENSP00000365146:D195V	.	D	-	2	0	NOX4	88710273	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	1.947000	0.56498	0.455000	0.32223	GAT		0.403	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
FOLH1B	219595	broad.mit.edu	37	11	89409306	89409306	+	RNA	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:89409306G>A	ENST00000532352.1	+	0	1231							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.A140T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCGTGGCGTGGCTTATATTAA	0.373																																					p.A140T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G418A	11						.						105.0	104.0	105.0					11																	89409306		2201	4299	6500	89048954			219595	exon7			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89409306G>A			89048954	NM_153696		Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.373	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
FOLH1B	219595	broad.mit.edu	37	11	89431701	89431701	+	RNA	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:89431701G>T	ENST00000532352.1	+	0	1983							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.K421N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAGATGTGAAGAGACAGATTT	0.458																																					p.K421N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1263T	11						.						140.0	133.0	136.0					11																	89431701		2201	4299	6500	89071349			219595	exon14			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89431701G>T			89071349	NM_153696		Missense_Mutation	SNP	ENST00000532352.1	37																																																																																					0.458	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696	
NAALAD2	10003	broad.mit.edu	37	11	89867931	89867931	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:89867931C>T	ENST00000534061.1	+	1	235	c.5C>T	c.(4-6)gCg>gTg	p.A2V	NAALAD2_ENST00000321955.4_Missense_Mutation_p.A2V|NAALAD2_ENST00000375944.3_Missense_Mutation_p.A2V|NAALAD2_ENST00000525171.1_Missense_Mutation_p.A2V	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	2					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.A2V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAAGCCATGGCGGAATCCAGG	0.577																																					p.A2V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	11						.						108.0	98.0	101.0					11																	89867931		2201	4299	6500	89507579	SO:0001583	missense	10003	exon1			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.5C>T	11.37:g.89867931C>T	ENSP00000432481:p.Ala2Val		89507579	NM_005467	B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321124	0.60634	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T;T	0.50277	0.75;1.27;1.37;0.81;2.57	5.28	2.35	0.29111	.	0.234449	0.30293	N	0.009944	T	0.30039	0.0752	L	0.29908	0.895	0.27405	N	0.954745	P;P;P;B;P	0.47604	0.816;0.713;0.661;0.008;0.898	B;B;B;B;B	0.40477	0.23;0.116;0.33;0.003;0.33	T	0.12528	-1.0544	9	.	.	.	-3.956	6.1789	0.20459	0.3298:0.5844:0.0:0.0859	.	2;2;2;2;2	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	V	2	ENSP00000431989:A2V;ENSP00000432481:A2V;ENSP00000320083:A2V;ENSP00000435249:A2V;ENSP00000365111:A2V	.	A	+	2	0	NAALAD2	89507579	0.268000	0.24133	0.395000	0.26283	0.883000	0.51084	0.326000	0.19646	0.361000	0.24292	0.650000	0.86243	GCG		0.577	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	
CHORDC1	26973	broad.mit.edu	37	11	89944398	89944398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:89944398C>A	ENST00000320585.6	-	5	827	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	CHORDC1_ENST00000529726.1_5'Flank|CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.E121*|CHORDC1_ENST00000529987.1_5'Flank	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	140	Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)	p.E140*(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTATTTTCTTCATTCCCTGAT	0.303																																					p.E140X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G418T	11						.						94.0	101.0	98.0					11																	89944398		2200	4291	6491	89584046	SO:0001587	stop_gained	26973	exon5			AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.418G>T	11.37:g.89944398C>A	ENSP00000319255:p.Glu140*		89584046	NM_012124	B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Nonsense_Mutation	SNP	ENST00000320585.6	37	CCDS8289.1	.	.	.	.	.	.	.	.	.	.	C	41	8.824005	0.98968	.	.	ENSG00000110172	ENST00000320585;ENST00000457199	.	.	.	5.77	5.77	0.91146	.	0.314188	0.38897	N	0.001534	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1524	20.0519	0.97629	0.0:1.0:0.0:0.0	.	.	.	.	X	140;121	.	.	E	-	1	0	CHORDC1	89584046	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.618000	0.54188	2.746000	0.94184	0.580000	0.79431	GAA		0.303	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394111.1	NM_012124	
FAT3	120114	broad.mit.edu	37	11	92086422	92086422	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92086422G>A	ENST00000298047.6	+	1	1161	c.1144G>A	c.(1144-1146)Gat>Aat	p.D382N	FAT3_ENST00000409404.2_Missense_Mutation_p.D382N|FAT3_ENST00000541502.1_Missense_Mutation_p.D382N|FAT3_ENST00000525166.1_Missense_Mutation_p.D232N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAAGTGTACGATGTGAGCAT	0.413										TCGA Ovarian(4;0.039)																											p.D382N												.	.	0			c.G1144A	11						.						95.0	89.0	91.0					11																	92086422		1894	4125	6019	91726070	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1144G>A	11.37:g.92086422G>A	ENSP00000298047:p.Asp382Asn		91726070	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	9.526	1.109553	0.20714	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.53	3.32	0.38043	.	.	.	.	.	T	0.35885	0.0947	N	0.10760	0.04	0.09310	N	0.999998	B	0.13594	0.008	B	0.08055	0.003	T	0.20974	-1.0259	9	0.41790	T	0.15	.	9.6884	0.40114	0.2469:0.0:0.7531:0.0	.	382	Q8TDW7-3	.	N	382;382;382;232	ENSP00000298047:D382N;ENSP00000387040:D382N;ENSP00000443786:D382N;ENSP00000432586:D232N	ENSP00000298047:D382N	D	+	1	0	FAT3	91726070	0.983000	0.35010	0.036000	0.18154	0.777000	0.43975	2.444000	0.44890	1.335000	0.45486	0.655000	0.94253	GAT		0.413	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92086795	92086795	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92086795A>G	ENST00000298047.6	+	1	1534	c.1517A>G	c.(1516-1518)tAc>tGc	p.Y506C	FAT3_ENST00000409404.2_Missense_Mutation_p.Y506C|FAT3_ENST00000541502.1_Missense_Mutation_p.Y506C|FAT3_ENST00000525166.1_Missense_Mutation_p.Y356C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y506C(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAAATGGGTACATCACCTAT	0.398										TCGA Ovarian(4;0.039)																											p.Y506C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1517G	11						.						96.0	97.0	97.0					11																	92086795		1889	4124	6013	91726443	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1517A>G	11.37:g.92086795A>G	ENSP00000298047:p.Tyr506Cys		91726443	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	14.31	2.496181	0.44352	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.84	5.84	0.93424	.	.	.	.	.	T	0.64170	0.2574	M	0.68593	2.085	0.47476	D	0.999437	D	0.89917	1.0	D	0.78314	0.991	T	0.65166	-0.6234	9	0.46703	T	0.11	.	10.603	0.45377	0.8566:0.0:0.0:0.1434	.	506	Q8TDW7-3	.	C	506;506;506;356	ENSP00000298047:Y506C;ENSP00000387040:Y506C;ENSP00000443786:Y506C;ENSP00000432586:Y356C	ENSP00000298047:Y506C	Y	+	2	0	FAT3	91726443	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.034000	0.70933	2.226000	0.72624	0.482000	0.46254	TAC		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92087419	92087419	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92087419A>G	ENST00000298047.6	+	1	2158	c.2141A>G	c.(2140-2142)gAc>gGc	p.D714G	FAT3_ENST00000409404.2_Missense_Mutation_p.D714G|FAT3_ENST00000541502.1_Missense_Mutation_p.D714G|FAT3_ENST00000525166.1_Missense_Mutation_p.D564G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	714					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D714G(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGATTTCTTGACTTTTATTCA	0.403										TCGA Ovarian(4;0.039)																											p.D714G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2141G	11						.						150.0	154.0	152.0					11																	92087419		1848	4104	5952	91727067	SO:0001583	missense	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2141A>G	11.37:g.92087419A>G	ENSP00000298047:p.Asp714Gly		91727067	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	16.52	3.147489	0.57151	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.47	5.47	0.80525	.	.	.	.	.	T	0.78078	0.4227	L	0.55743	1.74	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	T	0.78986	-0.1987	9	0.52906	T	0.07	.	14.7334	0.69399	1.0:0.0:0.0:0.0	.	714	Q8TDW7-3	.	G	714;714;714;564	ENSP00000298047:D714G;ENSP00000387040:D714G;ENSP00000443786:D714G;ENSP00000432586:D564G	ENSP00000298047:D714G	D	+	2	0	FAT3	91727067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.262000	0.95591	2.075000	0.62263	0.383000	0.25322	GAC		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92087597	92087597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92087597C>A	ENST00000298047.6	+	1	2336	c.2319C>A	c.(2317-2319)tgC>tgA	p.C773*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.C773*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.C773*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.C623*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	773	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C773*(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGATAGTTGCTTTAATATTG	0.398										TCGA Ovarian(4;0.039)																											p.C773X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C2319A	11						.						106.0	105.0	106.0					11																	92087597		1921	4131	6052	91727245	SO:0001587	stop_gained	120114	exon1			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2319C>A	11.37:g.92087597C>A	ENSP00000298047:p.Cys773*		91727245	NM_001008781	B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	39	7.359849	0.98235	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.77	1.78	0.24846	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1421	0.25562	0.0:0.4564:0.0:0.5436	.	.	.	.	X	773;773;773;623	.	ENSP00000298047:C773X	C	+	3	2	FAT3	91727245	0.950000	0.32346	0.995000	0.50966	0.984000	0.73092	0.066000	0.14489	0.341000	0.23771	0.467000	0.42956	TGC		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92523301	92523301	+	Missense_Mutation	SNP	C	C	T	rs377563244		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92523301C>T	ENST00000298047.6	+	7	4545	c.4528C>T	c.(4528-4530)Cgg>Tgg	p.R1510W	FAT3_ENST00000409404.2_Missense_Mutation_p.R1510W|FAT3_ENST00000525166.1_Missense_Mutation_p.R1360W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1510	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1510W(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGAAAATTCCGGATTGACCC	0.498										TCGA Ovarian(4;0.039)																											p.R1510W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4528T	11						.	C	TRP/ARG	1,4139		0,1,2069	177.0	172.0	173.0		4528	5.2	1.0	11		173	1,8433		0,1,4216	no	missense	FAT3	NM_001008781.2	101	0,2,6285	TT,TC,CC		0.0119,0.0242,0.0159	probably-damaging	1510/4558	92523301	2,12572	2070	4217	6287	92162949	SO:0001583	missense	120114	exon7			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4528C>T	11.37:g.92523301C>T	ENSP00000298047:p.Arg1510Trp		92162949	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.367854	0.82463	2.42E-4	1.19E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01804	4.63;4.63;4.63	6.17	5.21	0.72293	.	.	.	.	.	T	0.10380	0.0254	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00006	-1.2524	9	0.87932	D	0	.	12.7826	0.57485	0.3068:0.6932:0.0:0.0	.	1510	Q8TDW7-3	.	W	1510;1510;1360	ENSP00000298047:R1510W;ENSP00000387040:R1510W;ENSP00000432586:R1360W	ENSP00000298047:R1510W	R	+	1	2	FAT3	92162949	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.345000	0.52182	2.941000	0.99782	0.655000	0.94253	CGG		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92534102	92534102	+	Silent	SNP	C	C	T	rs376936376		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92534102C>T	ENST00000298047.6	+	9	7940	c.7923C>T	c.(7921-7923)agC>agT	p.S2641S	FAT3_ENST00000409404.2_Silent_p.S2641S|FAT3_ENST00000525166.1_Silent_p.S2491S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2641	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2641S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTCTATAGCGAGGCCTCTG	0.473										TCGA Ovarian(4;0.039)																											p.S2641S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C7923T	11						.	C		2,3786		0,2,1892	37.0	36.0	36.0		7923	-9.7	0.5	11		36	0,8214		0,0,4107	no	coding-synonymous	FAT3	NM_001008781.2		0,2,5999	TT,TC,CC		0.0,0.0528,0.0167		2641/4558	92534102	2,12000	1894	4107	6001	92173750	SO:0001819	synonymous_variant	120114	exon9			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7923C>T	11.37:g.92534102C>T			92173750	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92577198	92577198	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92577198A>G	ENST00000298047.6	+	18	10682	c.10665A>G	c.(10663-10665)gaA>gaG	p.E3555E	FAT3_ENST00000409404.2_Silent_p.E3555E|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Silent_p.E3405E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3555	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E3555E(2)|p.E130E(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCCCCTGGAAATTTTCATTG	0.493										TCGA Ovarian(4;0.039)																											p.E3555E												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.A10665G	11						.						165.0	164.0	164.0					11																	92577198		1943	4150	6093	92216846	SO:0001819	synonymous_variant	120114	exon18			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10665A>G	11.37:g.92577198A>G			92216846	NM_001008781	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.493	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92577308	92577308	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92577308A>G	ENST00000298047.6	+	18	10792	c.10775A>G	c.(10774-10776)cAg>cGg	p.Q3592R	FAT3_ENST00000409404.2_Missense_Mutation_p.Q3592R|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Missense_Mutation_p.Q3442R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3592	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q3592R(2)|p.Q167R(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATCGGAGCAGAAAAGCTTA	0.483										TCGA Ovarian(4;0.039)																											p.Q3592R												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A10775G	11						.						174.0	177.0	176.0					11																	92577308		2037	4195	6232	92216956	SO:0001583	missense	120114	exon18			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10775A>G	11.37:g.92577308A>G	ENSP00000298047:p.Gln3592Arg		92216956	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	A	14.96	2.692032	0.48097	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.08634	3.07;3.07;3.07	5.82	5.82	0.92795	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.17704	0.0425	L	0.41710	1.295	0.80722	D	1	D;P	0.58620	0.983;0.518	P;B	0.61800	0.894;0.186	T	0.07558	-1.0766	9	0.18276	T	0.48	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	3592;3592	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	R	3592;3592;3442	ENSP00000298047:Q3592R;ENSP00000387040:Q3592R;ENSP00000432586:Q3442R	ENSP00000298047:Q3592R	Q	+	2	0	FAT3	92216956	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.262000	0.95591	2.225000	0.72522	0.459000	0.35465	CAG		0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92592471	92592471	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92592471C>T	ENST00000298047.6	+	20	11658	c.11641C>T	c.(11641-11643)Ccc>Tcc	p.P3881S	FAT3_ENST00000409404.2_Missense_Mutation_p.P3881S|FAT3_ENST00000533797.1_Missense_Mutation_p.P216S|FAT3_ENST00000525166.1_Missense_Mutation_p.P3731S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3881	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P3881S(2)|p.P456S(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGAGCAAATCCCTGCATAAT	0.393										TCGA Ovarian(4;0.039)																											p.P3881S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C11641T	11						.						72.0	68.0	69.0					11																	92592471		1851	4099	5950	92232119	SO:0001583	missense	120114	exon20			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11641C>T	11.37:g.92592471C>T	ENSP00000298047:p.Pro3881Ser		92232119	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	C	16.12	3.032575	0.54790	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.15	4.24	0.50183	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.72415	0.3457	L	0.43923	1.385	0.80722	D	1	D;P	0.76494	0.999;0.8	D;P	0.68353	0.957;0.561	T	0.67964	-0.5534	9	0.19590	T	0.45	.	13.7956	0.63168	0.0:0.9257:0.0:0.0743	.	3881;3881	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	S	3881;3881;3731;216	ENSP00000298047:P3881S;ENSP00000387040:P3881S;ENSP00000432586:P3731S;ENSP00000436399:P216S	ENSP00000298047:P3881S	P	+	1	0	FAT3	92232119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.382000	0.79729	1.319000	0.45190	0.655000	0.94253	CCC		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
FAT3	120114	broad.mit.edu	37	11	92616466	92616466	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92616466G>A	ENST00000298047.6	+	23	12861	c.12844G>A	c.(12844-12846)Gtg>Atg	p.V4282M	FAT3_ENST00000409404.2_Missense_Mutation_p.V4282M|FAT3_ENST00000533797.1_Missense_Mutation_p.V617M|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.V4132M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4282					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGCGTGGTCGTGTGCAGTGT	0.657										TCGA Ovarian(4;0.039)																											p.V4282M												.	.	0			c.G12844A	11						.						31.0	38.0	36.0					11																	92616466		2098	4197	6295	92256114	SO:0001583	missense	120114	exon23			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12844G>A	11.37:g.92616466G>A	ENSP00000298047:p.Val4282Met		92256114	NM_001008781	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37		.	.	.	.	.	.	.	.	.	.	G	33	5.201275	0.94997	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.90261	-1.04;-1.32;-1.05;-2.64	5.85	5.85	0.93711	.	.	.	.	.	D	0.95736	0.8613	M	0.81497	2.545	0.80722	D	1	D;B	0.89917	1.0;0.382	D;B	0.91635	0.999;0.019	D	0.95204	0.8319	9	0.56958	D	0.05	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4282;4282	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	M	4282;4282;4132;617	ENSP00000298047:V4282M;ENSP00000387040:V4282M;ENSP00000432586:V4132M;ENSP00000436399:V617M	ENSP00000298047:V4282M	V	+	1	0	FAT3	92256114	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	9.746000	0.98859	2.770000	0.95276	0.655000	0.94253	GTG		0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
MTNR1B	4544	broad.mit.edu	37	11	92714843	92714843	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92714843T>C	ENST00000257068.2	+	2	460	c.454T>C	c.(454-456)Tac>Cac	p.Y152H		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	152					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.Y152H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCACCGAATCTACCGGCGCTG	0.587																																					p.Y152H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T454C	11						.						124.0	115.0	118.0					11																	92714843		2201	4298	6499	92354491	SO:0001583	missense	4544	exon2			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.454T>C	11.37:g.92714843T>C	ENSP00000257068:p.Tyr152His		92354491	NM_005959		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	T	13.56	2.274104	0.40194	.	.	ENSG00000134640	ENST00000257068	T	0.37235	1.21	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.414145	0.27836	N	0.017641	T	0.54919	0.1888	M	0.69823	2.125	0.36869	D	0.888813	D	0.69078	0.997	D	0.69479	0.964	T	0.60796	-0.7192	10	0.29301	T	0.29	-1.8329	13.3318	0.60492	0.0:0.0:0.0:1.0	.	152	P49286	MTR1B_HUMAN	H	152	ENSP00000257068:Y152H	ENSP00000257068:Y152H	Y	+	1	0	MTNR1B	92354491	1.000000	0.71417	0.020000	0.16555	0.226000	0.24999	7.122000	0.77169	1.803000	0.52742	0.402000	0.26972	TAC		0.587	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
MTNR1B	4544	broad.mit.edu	37	11	92715356	92715356	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:92715356C>A	ENST00000257068.2	+	2	973	c.967C>A	c.(967-969)Ctc>Atc	p.L323I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	323					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)	p.L323I(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CAAGAGGATCCTCTTGGCCCT	0.527																																					p.L323I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C967A	11						.						145.0	157.0	153.0					11																	92715356		2201	4298	6499	92355004	SO:0001583	missense	4544	exon2			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.967C>A	11.37:g.92715356C>A	ENSP00000257068:p.Leu323Ile		92355004	NM_005959		Missense_Mutation	SNP	ENST00000257068.2	37	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	2.487	-0.318239	0.05386	.	.	ENSG00000134640	ENST00000257068	T	0.47177	0.85	3.6	-4.52	0.03472	.	0.701300	0.13192	N	0.406680	T	0.17789	0.0427	N	0.12527	0.23	0.09310	N	0.999992	B	0.06786	0.001	B	0.12837	0.008	T	0.26087	-1.0113	10	0.09590	T	0.72	-9.2229	2.0296	0.03527	0.4275:0.294:0.1141:0.1645	.	323	P49286	MTR1B_HUMAN	I	323	ENSP00000257068:L323I	ENSP00000257068:L323I	L	+	1	0	MTNR1B	92355004	0.015000	0.18098	0.164000	0.22755	0.102000	0.19082	-0.178000	0.09782	-0.681000	0.05204	0.313000	0.20887	CTC		0.527	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1		
TAF1D	79101	broad.mit.edu	37	11	93471365	93471365	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:93471365C>A	ENST00000448108.2	-	3	1019	c.369G>T	c.(367-369)aaG>aaT	p.K123N	TAF1D_ENST00000546088.1_5'Flank|SNORA40_ENST00000388090.1_RNA	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	123					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K123N(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TAAATTGTTTCTTCTTATCTA	0.383																																					p.K123N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G369T	11						.						132.0	136.0	135.0					11																	93471365		2201	4298	6499	93111013	SO:0001583	missense	79101	exon3				CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.369G>T	11.37:g.93471365C>A	ENSP00000410409:p.Lys123Asn		93111013	NM_024116	Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699460	0.30142	.	.	ENSG00000166012	ENST00000448108	.	.	.	5.34	-1.13	0.09775	.	0.806907	0.11606	N	0.547280	T	0.34513	0.0900	N	0.24115	0.695	0.09310	N	1	D	0.63880	0.993	P	0.57057	0.812	T	0.30031	-0.9992	9	0.48119	T	0.1	.	8.8568	0.35234	0.0:0.4782:0.0:0.5218	.	123	Q9H5J8	TAF1D_HUMAN	N	123	.	ENSP00000314971:K123N	K	-	3	2	TAF1D	93111013	0.341000	0.24801	0.030000	0.17652	0.005000	0.04900	0.070000	0.14573	-0.233000	0.09797	-0.150000	0.13652	AAG		0.383	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116	
HEPHL1	341208	broad.mit.edu	37	11	93778875	93778875	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:93778875G>A	ENST00000315765.9	+	2	215	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	69	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.R69R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGCCCAACAGGATAGGCAGTA	0.423																																					p.R69R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G207A	11						.						60.0	54.0	56.0					11																	93778875		1812	4080	5892	93418523	SO:0001819	synonymous_variant	341208	exon2			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.207G>A	11.37:g.93778875G>A			93418523	NM_001098672	Q3C1W7	Silent	SNP	ENST00000315765.9	37	CCDS44710.1																																																																																				0.423	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
FOLR4	390243	broad.mit.edu	37	11	94040443	94040443	+	Missense_Mutation	SNP	G	G	A	rs368760432		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94040443G>A	ENST00000440961.2	+	3	484	c.440G>A	c.(439-441)cGt>cAt	p.R147H		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	154					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R148H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TCCAACTGGCGTGGTGGCTGG	0.602																																					p.R154H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G461A	11						.	G	HIS/ARG	2,4392	4.2+/-10.8	0,2,2195	93.0	100.0	97.0		461	-6.3	0.0	11		97	0,8596		0,0,4298	no	missense	FOLR4	NM_001199206.1	29	0,2,6493	AA,AG,GG		0.0,0.0455,0.0154	benign	154/251	94040443	2,12988	2197	4298	6495	93680091	SO:0001583	missense	390243	exon3					11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.440G>A	11.37:g.94040443G>A	ENSP00000416935:p.Arg147His		93680091	NM_001199206		Missense_Mutation	SNP	ENST00000440961.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.855|1.855	-0.464062|-0.464062	0.04476|0.04476	4.55E-4|4.55E-4	0.0|0.0	ENSG00000183560|ENSG00000183560	ENST00000440961|ENST00000328458	T|.	0.73047|.	-0.71|.	4.43|4.43	-6.28|-6.28	0.02020|0.02020	.|.	0.455727|.	0.24224|.	N|.	0.040417|.	T|T	0.05686|0.05686	0.0149|0.0149	N|N	0.00413|0.00413	-1.525|-1.525	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.34825|0.34825	-0.9813|-0.9813	10|5	0.12430|.	T|.	0.62|.	-21.2783|-21.2783	4.6965|4.6965	0.12806|0.12806	0.3201:0.0:0.1596:0.5203|0.3201:0.0:0.1596:0.5203	.|.	147|.	A6ND01-2|.	.|.	H|M	147|148	ENSP00000416935:R147H|.	ENSP00000416935:R147H|.	R|V	+|+	2|1	0|0	FOLR4|FOLR4	93680091|93680091	0.154000|0.154000	0.22792|0.22792	0.005000|0.005000	0.12908|0.12908	0.071000|0.071000	0.16799|0.16799	0.823000|0.823000	0.27366|0.27366	-1.152000|-1.152000	0.02832|0.02832	-0.658000|-0.658000	0.03865|0.03865	CGT|GTG		0.602	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486	
MRE11A	4361	broad.mit.edu	37	11	94178994	94178994	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94178994T>G	ENST00000323929.3	-	16	2071	c.1849A>C	c.(1849-1851)Aat>Cat	p.N617H	MRE11A_ENST00000393241.4_Missense_Mutation_p.N616H|MRE11A_ENST00000407439.3_Missense_Mutation_p.N620H|MRE11A_ENST00000323977.3_Intron	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	617					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|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)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.N617H(1)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ATAGACATATTTCTAGATGCT	0.383								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																												p.N617H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1849C	11						.						96.0	100.0	99.0					11																	94178994		2201	4298	6499	93818642	SO:0001583	missense	4361	exon16	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1849A>C	11.37:g.94178994T>G	ENSP00000325863:p.Asn617His		93818642	NM_005591	O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804775	0.70682	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000393241	T;T;T	0.75050	-0.9;-0.9;-0.9	5.53	5.53	0.82687	.	0.202474	0.50627	D	0.000113	T	0.82259	0.4998	M	0.62723	1.935	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63597	0.916;0.916	T	0.82559	-0.0397	10	0.46703	T	0.11	-28.1925	13.3348	0.60512	0.0:0.0:0.0:1.0	.	620;617	B3KTC7;P49959	.;MRE11_HUMAN	H	617;620;616	ENSP00000325863:N617H;ENSP00000385614:N620H;ENSP00000376933:N616H	ENSP00000325863:N617H	N	-	1	0	MRE11A	93818642	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.024000	0.57218	2.240000	0.73641	0.528000	0.53228	AAT		0.383	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
MRE11A	4361	broad.mit.edu	37	11	94219175	94219175	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94219175C>T	ENST00000323929.3	-	4	451	c.229G>A	c.(229-231)Gag>Aag	p.E77K	MRE11A_ENST00000540013.1_Missense_Mutation_p.E77K|MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000393241.4_Missense_Mutation_p.E77K|MRE11A_ENST00000407439.3_Missense_Mutation_p.E80K|MRE11A_ENST00000323977.3_Missense_Mutation_p.E77K	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	77					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|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)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E77K(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTAATAACTCGAGGCAGGTA	0.338								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																												p.E77K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G229A	11						.						95.0	95.0	95.0					11																	94219175		2201	4298	6499	93858823	SO:0001583	missense	4361	exon4	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.229G>A	11.37:g.94219175C>T	ENSP00000325863:p.Glu77Lys		93858823	NM_005591	O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997199	0.54147	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013;ENST00000536754;ENST00000538923	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.51	5.51	0.81932	Metallophosphoesterase domain (1);	0.101211	0.64402	D	0.000003	T	0.74809	0.3765	N	0.21282	0.65	0.80722	D	1	B;B;B	0.13145	0.007;0.003;0.007	B;B;B	0.20384	0.029;0.017;0.013	T	0.68187	-0.5475	10	0.16896	T	0.51	-22.5762	19.4186	0.94712	0.0:1.0:0.0:0.0	.	80;77;77	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	K	77;80;77;77;77;77;77	ENSP00000325863:E77K;ENSP00000385614:E80K;ENSP00000326094:E77K;ENSP00000376933:E77K;ENSP00000440986:E77K;ENSP00000439511:E77K;ENSP00000442809:E77K	ENSP00000325863:E77K	E	-	1	0	MRE11A	93858823	0.999000	0.42202	0.977000	0.42913	0.993000	0.82548	3.928000	0.56506	2.577000	0.86979	0.585000	0.79938	GAG		0.338	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
MRE11A	4361	broad.mit.edu	37	11	94224001	94224001	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94224001C>T	ENST00000323929.3	-	3	373	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	ANKRD49_ENST00000544612.1_5'Flank|MRE11A_ENST00000540013.1_Missense_Mutation_p.E51K|MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000393241.4_Missense_Mutation_p.E51K|MRE11A_ENST00000407439.3_Missense_Mutation_p.E54K|MRE11A_ENST00000323977.3_Missense_Mutation_p.E51K	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	51					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|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)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E51K(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACACTCACTTCATTTTCCTGG	0.348								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																												p.E51K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G151A	11						.						146.0	144.0	145.0					11																	94224001		2201	4298	6499	93863649	SO:0001583	missense	4361	exon3	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.151G>A	11.37:g.94224001C>T	ENSP00000325863:p.Glu51Lys		93863649	NM_005591	O43475	Missense_Mutation	SNP	ENST00000323929.3	37	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712332	0.48517	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241;ENST00000540013;ENST00000536754;ENST00000538923	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	4.46	3.54	0.40534	Metallophosphoesterase domain (1);	0.218597	0.45867	D	0.000331	T	0.62392	0.2424	N	0.11023	0.085	0.51767	D	0.999932	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.14023	0.01;0.005;0.007	T	0.53669	-0.8406	10	0.10377	T	0.69	-10.5171	14.3294	0.66545	0.0:0.8503:0.1496:0.0	.	54;51;51	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	K	51;54;51;51;51;51;51	ENSP00000325863:E51K;ENSP00000385614:E54K;ENSP00000326094:E51K;ENSP00000376933:E51K;ENSP00000440986:E51K;ENSP00000439511:E51K;ENSP00000442809:E51K	ENSP00000325863:E51K	E	-	1	0	MRE11A	93863649	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.128000	0.42045	0.854000	0.35336	0.462000	0.41574	GAA		0.348	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	NM_005591	
PIWIL4	143689	broad.mit.edu	37	11	94316657	94316657	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94316657A>C	ENST00000299001.6	+	5	768	c.557A>C	c.(556-558)aAg>aCg	p.K186T	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	186					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.K186T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGACTATAAAGATGACTATC	0.428																																					p.K186T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A557C	11						.						165.0	166.0	166.0					11																	94316657		2201	4298	6499	93956305	SO:0001583	missense	143689	exon5			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.557A>C	11.37:g.94316657A>C	ENSP00000299001:p.Lys186Thr		93956305	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	A	9.312	1.055914	0.19907	.	.	ENSG00000134627	ENST00000299001;ENST00000545603	T;T	0.26957	3.04;1.7	5.54	4.4	0.53042	Argonaute/Dicer protein, PAZ (1);	0.160425	0.41712	D	0.000836	T	0.18593	0.0446	N	0.26130	0.795	0.80722	D	1	B	0.17852	0.024	B	0.17433	0.018	T	0.03993	-1.0986	10	0.33940	T	0.23	-15.807	12.7034	0.57046	0.8545:0.1455:0.0:0.0	.	186	Q7Z3Z4	PIWL4_HUMAN	T	186;117	ENSP00000299001:K186T;ENSP00000440499:K117T	ENSP00000299001:K186T	K	+	2	0	PIWIL4	93956305	0.994000	0.37717	0.988000	0.46212	0.146000	0.21551	1.431000	0.34925	2.330000	0.79161	0.528000	0.53228	AAG		0.428	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431	
PIWIL4	143689	broad.mit.edu	37	11	94335001	94335001	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94335001G>A	ENST00000299001.6	+	12	1632	c.1421G>A	c.(1420-1422)cGa>cAa	p.R474Q	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	474					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.R474Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAGGATATTCGAACTTGCAAG	0.378																																					p.R474Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1421A	11						.						158.0	156.0	156.0					11																	94335001		2201	4298	6499	93974649	SO:0001583	missense	143689	exon12			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1421G>A	11.37:g.94335001G>A	ENSP00000299001:p.Arg474Gln		93974649	NM_152431	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	ENST00000299001.6	37	CCDS31656.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139477	0.77775	.	.	ENSG00000134627	ENST00000299001	T	0.04862	3.54	5.05	4.14	0.48551	Ribonuclease H-like (1);	0.113799	0.36002	N	0.002860	T	0.25382	0.0617	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.01771	-1.1277	10	0.51188	T	0.08	-3.5558	12.2533	0.54610	0.0831:0.0:0.9169:0.0	.	474	Q7Z3Z4	PIWL4_HUMAN	Q	474	ENSP00000299001:R474Q	ENSP00000299001:R474Q	R	+	2	0	PIWIL4	93974649	1.000000	0.71417	0.138000	0.22173	0.928000	0.56348	4.730000	0.62015	1.366000	0.46076	0.655000	0.94253	CGA		0.378	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431	
AMOTL1	154810	broad.mit.edu	37	11	94564662	94564662	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94564662G>A	ENST00000433060.2	+	6	1744	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	AMOTL1_ENST00000317829.8_Missense_Mutation_p.E485K|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	535					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.E536K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGGGAATACGAAGGGCATGA	0.408																																					p.E535K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1603A	11						.						125.0	123.0	124.0					11																	94564662		1905	4121	6026	94204310	SO:0001583	missense	154810	exon6			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1603G>A	11.37:g.94564662G>A	ENSP00000387739:p.Glu535Lys		94204310	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011211	0.35511	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.38560	1.13;1.13	5.29	5.29	0.74685	.	0.333857	0.28482	N	0.015186	T	0.33933	0.0880	L	0.56199	1.76	0.80722	D	1	P;B	0.38800	0.648;0.079	B;B	0.28709	0.093;0.04	T	0.21280	-1.0250	10	0.41790	T	0.15	-6.7722	12.3075	0.54910	0.0775:0.0:0.9225:0.0	.	485;535	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	K	485;541;535	ENSP00000320968:E485K;ENSP00000387739:E535K	ENSP00000320968:E485K	E	+	1	0	AMOTL1	94204310	1.000000	0.71417	0.049000	0.19019	0.038000	0.13279	3.905000	0.56333	2.468000	0.83385	0.561000	0.74099	GAA		0.408	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
AMOTL1	154810	broad.mit.edu	37	11	94592792	94592792	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94592792G>A	ENST00000433060.2	+	9	2188	c.2047G>A	c.(2047-2049)Gac>Aac	p.D683N	AMOTL1_ENST00000317829.8_Missense_Mutation_p.D633N|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	683					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.D684N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTGGAGGCCGACATGACAAA	0.592																																					p.D683N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2047A	11						.						46.0	49.0	48.0					11																	94592792		2201	4298	6499	94232440	SO:0001583	missense	154810	exon9			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2047G>A	11.37:g.94592792G>A	ENSP00000387739:p.Asp683Asn		94232440	NM_130847	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266845	0.95399	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.23552	1.91;1.9	6.08	5.17	0.71159	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.954;0.975	T	0.54403	-0.8299	10	0.54805	T	0.06	-42.9646	15.3777	0.74625	0.0664:0.0:0.9336:0.0	.	633;683	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	N	633;683	ENSP00000320968:D633N;ENSP00000387739:D683N	ENSP00000320968:D633N	D	+	1	0	AMOTL1	94232440	1.000000	0.71417	0.962000	0.40283	0.792000	0.44763	9.611000	0.98342	1.595000	0.50050	-0.136000	0.14681	GAC		0.592	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
SESN3	143686	broad.mit.edu	37	11	94917629	94917629	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94917629G>T	ENST00000536441.1	-	6	1228	c.892C>A	c.(892-894)Ctt>Att	p.L298I	SESN3_ENST00000416495.2_Missense_Mutation_p.L298I|SESN3_ENST00000393234.1_Missense_Mutation_p.L298I|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.L159I|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	298					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.L298I(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACCACAAAAAGACTTTCTTTC	0.383																																					p.L298I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C892A	11						.						134.0	130.0	132.0					11																	94917629		2201	4298	6499	94557277	SO:0001583	missense	143686	exon6			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.892C>A	11.37:g.94917629G>T	ENSP00000441927:p.Leu298Ile		94557277	NM_144665	B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614758	0.66672	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.34	4.42	0.53409	.	0.078923	0.51477	N	0.000088	T	0.45955	0.1368	L	0.57536	1.79	0.48341	D	0.999639	D;B;D	0.69078	0.997;0.297;0.997	D;B;D	0.79108	0.987;0.078;0.992	T	0.30937	-0.9961	10	0.30854	T	0.27	-16.6444	15.396	0.74794	0.0:0.0:0.8597:0.1403	.	159;298;298	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	I	298;159;298;298	ENSP00000441927:L298I;ENSP00000278499:L159I;ENSP00000376926:L298I;ENSP00000407008:L298I	ENSP00000278499:L159I	L	-	1	0	SESN3	94557277	1.000000	0.71417	0.988000	0.46212	0.969000	0.65631	4.845000	0.62853	1.248000	0.43934	0.591000	0.81541	CTT		0.383	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665	
SESN3	143686	broad.mit.edu	37	11	94918638	94918638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:94918638C>A	ENST00000536441.1	-	5	880	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	SESN3_ENST00000416495.2_Nonsense_Mutation_p.E182*|SESN3_ENST00000393234.1_Nonsense_Mutation_p.E182*|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Nonsense_Mutation_p.E43*|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	182					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)		p.E182*(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CAATTATTTTCTCCAGTTTTG	0.353																																					p.E182X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G544T	11						.						69.0	72.0	71.0					11																	94918638		2201	4294	6495	94558286	SO:0001587	stop_gained	143686	exon5			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.544G>T	11.37:g.94918638C>A	ENSP00000441927:p.Glu182*		94558286	NM_144665	B7Z7P9|Q96AD1	Nonsense_Mutation	SNP	ENST00000536441.1	37	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	C	38	6.738096	0.97801	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-0.5311	19.4864	0.95030	0.0:1.0:0.0:0.0	.	.	.	.	X	182;43;182;182	.	ENSP00000278499:E43X	E	-	1	0	SESN3	94558286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.274000	0.58921	2.687000	0.91594	0.561000	0.74099	GAA		0.353	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665	
CEP57	9702	broad.mit.edu	37	11	95532501	95532501	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:95532501C>T	ENST00000325542.5	+	2	389	c.151C>T	c.(151-153)Cga>Tga	p.R51*	CEP57_ENST00000325486.5_Nonsense_Mutation_p.R51*|CEP57_ENST00000537677.1_Nonsense_Mutation_p.R24*|CEP57_ENST00000538658.1_Nonsense_Mutation_p.R51*|CEP57_ENST00000541150.1_Nonsense_Mutation_p.R42*	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	51					fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)	p.R51*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGTGATCTACGACGCTCCCC	0.423									Mosaic Variegated Aneuploidy Syndrome																												p.R51X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C151T	11						.						146.0	136.0	139.0					11																	95532501		2201	4298	6499	95172149	SO:0001587	stop_gained	9702	exon2	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.151C>T	11.37:g.95532501C>T	ENSP00000317902:p.Arg51*		95172149	NM_014679	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Nonsense_Mutation	SNP	ENST00000325542.5	37	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	C	37	6.476426	0.97598	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000544522;ENST00000541365;ENST00000538658;ENST00000541150	.	.	.	4.93	2.97	0.34412	.	0.130051	0.33309	N	0.005041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7895	13.4172	0.60976	0.295:0.705:0.0:0.0	.	.	.	.	X	24;51;51;42;24;51;42	.	ENSP00000317487:R51X	R	+	1	2	CEP57	95172149	0.999000	0.42202	0.808000	0.32385	0.948000	0.59901	2.176000	0.42500	0.528000	0.28580	-0.169000	0.13324	CGA		0.423	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679	
MTMR2	8898	broad.mit.edu	37	11	95568591	95568591	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:95568591C>A	ENST00000346299.5	-	15	2135	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	MTMR2_ENST00000352297.7_Nonsense_Mutation_p.E527*|MTMR2_ENST00000409459.1_Nonsense_Mutation_p.E527*|MTMR2_ENST00000393223.3_Nonsense_Mutation_p.E527*	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	599					cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E599*(1)|p.E527*(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAAGAAGTTCTTTGTATCTG	0.418																																					p.E527X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1579T	11						.						121.0	116.0	118.0					11																	95568591		2201	4298	6499	95208239	SO:0001587	stop_gained	8898	exon17			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1795G>T	11.37:g.95568591C>A	ENSP00000345752:p.Glu599*		95208239	NM_201278	A6NN98|Q9UPS9	Nonsense_Mutation	SNP	ENST00000346299.5	37	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	C	38	7.220587	0.98143	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	.	.	.	6.17	6.17	0.99709	.	0.093739	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	599;527;527;527;527	.	ENSP00000345752:E599X	E	-	1	0	MTMR2	95208239	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.766000	0.68843	2.941000	0.99782	0.655000	0.94253	GAA		0.418	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156	
MAML2	84441	broad.mit.edu	37	11	95826662	95826662	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:95826662C>A	ENST00000524717.1	-	2	1817	c.533G>T	c.(532-534)aGa>aTa	p.R178I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	178					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R178K(1)|p.R178I(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TACCTGTTTTCTTTTCAAGGA	0.373			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																p.R178I			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G533T	11						.						75.0	72.0	73.0					11																	95826662		1844	4085	5929	95466310	SO:0001583	missense	84441	exon2			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.533G>T	11.37:g.95826662C>A	ENSP00000434552:p.Arg178Ile		95466310	NM_032427	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296677	0.60086	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.61627	0.09;0.09	5.14	5.14	0.70334	.	0.079486	0.51477	D	0.000090	T	0.74092	0.3671	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.76621	-0.2892	10	0.72032	D	0.01	-14.3778	18.6101	0.91281	0.0:1.0:0.0:0.0	.	178	Q8IZL2	MAML2_HUMAN	I	178	ENSP00000434552:R178I;ENSP00000412394:R178I	ENSP00000412394:R178I	R	-	2	0	MAML2	95466310	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.676000	0.74498	2.391000	0.81399	0.563000	0.77884	AGA		0.373	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
GLB1L3	112937	broad.mit.edu	37	11	134151273	134151273	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr11:134151273A>G	ENST00000431683.2	+	4	365	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	GLB1L3_ENST00000389887.5_Missense_Mutation_p.Y122C	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	122					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.Y122C(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCTTCTAGCTATGTTCCGTGG	0.478																																					p.Y122C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A365G	11						.						213.0	214.0	214.0					11																	134151273		2201	4297	6498	133656483	SO:0001583	missense	112937	exon4				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.365A>G	11.37:g.134151273A>G	ENSP00000396615:p.Tyr122Cys		133656483	NM_001080407	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.564278	0.45694	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.99399	-5.83;-5.83	3.89	3.89	0.44902	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99638	0.9867	H	0.97131	3.945	0.58432	D	0.99999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	D	0.97914	1.0310	9	0.87932	D	0	.	10.6193	0.45470	1.0:0.0:0.0:0.0	.	122;122	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	C	122	ENSP00000374537:Y122C;ENSP00000396615:Y122C	ENSP00000374537:Y122C	Y	+	2	0	GLB1L3	133656483	1.000000	0.71417	0.290000	0.24890	0.297000	0.27493	5.528000	0.67129	1.773000	0.52216	0.459000	0.35465	TAT		0.478	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416	
UTP20	27340	broad.mit.edu	37	12	101738495	101738495	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:101738495G>T	ENST00000261637.4	+	36	4746	c.4572G>T	c.(4570-4572)gaG>gaT	p.E1524D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1524					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E1524D(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CACTCCTGGAGAAATTGAGAA	0.418																																					p.E1524D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4572T	12						.						110.0	104.0	106.0					12																	101738495		2203	4300	6503	100262626	SO:0001583	missense	27340	exon36			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4572G>T	12.37:g.101738495G>T	ENSP00000261637:p.Glu1524Asp		100262626	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524290	0.27299	.	.	ENSG00000120800	ENST00000261637	T	0.65364	-0.15	5.85	5.85	0.93711	Armadillo-type fold (1);	0.048668	0.85682	D	0.000000	T	0.51550	0.1681	L	0.31294	0.92	0.38416	D	0.94605	B	0.14012	0.009	B	0.14023	0.01	T	0.49995	-0.8879	10	0.46703	T	0.11	-25.658	14.3251	0.66515	0.0705:0.0:0.9295:0.0	.	1524	O75691	UTP20_HUMAN	D	1524	ENSP00000261637:E1524D	ENSP00000261637:E1524D	E	+	3	2	UTP20	100262626	1.000000	0.71417	0.998000	0.56505	0.776000	0.43924	1.144000	0.31565	2.767000	0.95098	0.655000	0.94253	GAG		0.418	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101750779	101750779	+	Silent	SNP	G	G	A	rs145450532	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:101750779G>A	ENST00000261637.4	+	43	5784	c.5610G>A	c.(5608-5610)gcG>gcA	p.A1870A	snoU13_ENST00000458958.1_RNA	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1870					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.A1870A(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCACTCTTGCGAAAATAATAG	0.398																																					p.A1870A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5610A	12						.	G		4,4402	8.1+/-20.4	0,4,2199	79.0	73.0	75.0		5610	0.2	0.9	12	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous	UTP20	NM_014503.2		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		1870/2786	101750779	4,13002	2203	4300	6503	100274910	SO:0001819	synonymous_variant	27340	exon43			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5610G>A	12.37:g.101750779G>A			100274910	NM_014503	Q9H3H4	Silent	SNP	ENST00000261637.4	37	CCDS9081.1																																																																																				0.398	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101755756	101755756	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:101755756T>G	ENST00000261637.4	+	44	5882	c.5708T>G	c.(5707-5709)tTc>tGc	p.F1903C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1903					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.F1903C(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTGCTGACTTTCACCGTTCAC	0.418																																					p.F1903C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5708G	12						.						242.0	234.0	237.0					12																	101755756		2203	4300	6503	100279887	SO:0001583	missense	27340	exon44			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5708T>G	12.37:g.101755756T>G	ENSP00000261637:p.Phe1903Cys		100279887	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394529	0.62066	.	.	ENSG00000120800	ENST00000261637	T	0.54866	0.55	6.03	4.88	0.63580	Armadillo-type fold (1);	0.046537	0.85682	D	0.000000	T	0.73156	0.3551	M	0.82323	2.585	0.53688	D	0.999978	D	0.89917	1.0	D	0.83275	0.996	T	0.75340	-0.3352	10	0.51188	T	0.08	-16.7436	12.7398	0.57246	0.1232:0.0:0.0:0.8768	.	1903	O75691	UTP20_HUMAN	C	1903	ENSP00000261637:F1903C	ENSP00000261637:F1903C	F	+	2	0	UTP20	100279887	1.000000	0.71417	0.999000	0.59377	0.457000	0.32468	4.269000	0.58890	1.073000	0.40885	0.533000	0.62120	TTC		0.418	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101769435	101769435	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:101769435C>T	ENST00000261637.4	+	56	7471	c.7297C>T	c.(7297-7299)Cgc>Tgc	p.R2433C		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2433					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.R2433C(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGCTGCAGATCGCCTTCTGTT	0.333																																					p.R2433C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7297T	12						.						75.0	71.0	72.0					12																	101769435		2202	4300	6502	100293566	SO:0001583	missense	27340	exon56			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7297C>T	12.37:g.101769435C>T	ENSP00000261637:p.Arg2433Cys		100293566	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834465	0.71373	.	.	ENSG00000120800	ENST00000261637	T	0.66638	-0.22	5.47	3.45	0.39498	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.63428	1.95	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.78615	-0.2135	10	0.66056	D	0.02	-11.0135	12.6802	0.56918	0.349:0.651:0.0:0.0	.	2433	O75691	UTP20_HUMAN	C	2433	ENSP00000261637:R2433C	ENSP00000261637:R2433C	R	+	1	0	UTP20	100293566	0.993000	0.37304	1.000000	0.80357	0.857000	0.48899	2.477000	0.45180	2.564000	0.86499	0.655000	0.94253	CGC		0.333	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
UTP20	27340	broad.mit.edu	37	12	101777044	101777044	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:101777044C>T	ENST00000261637.4	+	59	8056	c.7882C>T	c.(7882-7884)Cgg>Tgg	p.R2628W		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2628					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.R2628W(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAAGCTGTCCCGGATTGCAAA	0.502																																					p.R2628W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7882T	12						.						57.0	64.0	61.0					12																	101777044		2203	4300	6503	100301175	SO:0001583	missense	27340	exon59			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7882C>T	12.37:g.101777044C>T	ENSP00000261637:p.Arg2628Trp		100301175	NM_014503	Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104740	0.56291	.	.	ENSG00000120800	ENST00000261637	T	0.05025	3.51	5.73	2.53	0.30540	.	0.280979	0.34725	N	0.003739	T	0.06142	0.0159	L	0.46157	1.445	0.09310	N	1	D	0.59767	0.986	B	0.42653	0.394	T	0.33266	-0.9875	10	0.38643	T	0.18	-4.855	6.6957	0.23197	0.3159:0.5257:0.0887:0.0697	.	2628	O75691	UTP20_HUMAN	W	2628	ENSP00000261637:R2628W	ENSP00000261637:R2628W	R	+	1	2	UTP20	100301175	0.110000	0.22057	0.297000	0.24988	0.892000	0.51952	0.429000	0.21412	0.741000	0.32674	0.643000	0.83706	CGG		0.502	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503	
SPIC	121599	broad.mit.edu	37	12	101880435	101880435	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:101880435C>A	ENST00000551346.1	+	6	792	c.633C>A	c.(631-633)atC>atA	p.I211I	SPIC_ENST00000299272.5_Silent_p.I211I			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	211					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I211I(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						GGAAAGAGATCTTCTATTCAC	0.388																																					p.I211I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C633A	12						.						87.0	94.0	92.0					12																	101880435		2203	4300	6503	100404566	SO:0001819	synonymous_variant	121599	exon5			AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.633C>A	12.37:g.101880435C>A			100404566	NM_152323		Silent	SNP	ENST00000551346.1	37	CCDS9082.1																																																																																				0.388	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1	NM_152323	
ERC1	23085	broad.mit.edu	37	12	1137581	1137581	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:1137581A>G	ENST00000397203.2	+	2	918	c.512A>G	c.(511-513)gAt>gGt	p.D171G	ERC1_ENST00000543086.3_Missense_Mutation_p.D171G|ERC1_ENST00000589028.1_Missense_Mutation_p.D171G|ERC1_ENST00000355446.5_Missense_Mutation_p.D171G|ERC1_ENST00000360905.4_Missense_Mutation_p.D171G|ERC1_ENST00000546231.2_Missense_Mutation_p.D171G			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	171					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)	p.D171G(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TTGCGGAAGGATGTGGAAGTA	0.448																																					p.D171G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A512G	12						.						114.0	106.0	108.0					12																	1137581		2203	4300	6503	1007842	SO:0001583	missense	23085	exon2			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.512A>G	12.37:g.1137581A>G	ENSP00000380386:p.Asp171Gly		1007842	NM_178039	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307812	0.60305	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.66	5.66	0.87406	.	0.096853	0.64402	D	0.000001	T	0.45836	0.1362	L	0.43152	1.355	0.58432	D	0.999991	P;P;P	0.49862	0.763;0.804;0.929	B;B;P	0.48089	0.288;0.27;0.566	T	0.46442	-0.9191	10	0.66056	D	0.02	-29.1272	15.8861	0.79251	1.0:0.0:0.0:0.0	.	171;171;171	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	G	171	ENSP00000340054:D171G;ENSP00000380386:D171G;ENSP00000438546:D171G;ENSP00000445336:D171G;ENSP00000442976:D171G;ENSP00000442739:D171G;ENSP00000347621:D171G;ENSP00000354158:D171G;ENSP00000410064:D171G	ENSP00000299183:D171G	D	+	2	0	ERC1	1007842	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.285000	0.95894	2.156000	0.67533	0.533000	0.62120	GAT		0.448	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064	
GNPTAB	79158	broad.mit.edu	37	12	102155046	102155046	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:102155046A>C	ENST00000299314.7	-	15	3256	c.2994T>G	c.(2992-2994)ttT>ttG	p.F998L		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	998					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.F998L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TGAGATAATAAAAATAAGAGA	0.383																																					p.F998L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2994G	12						.						96.0	96.0	96.0					12																	102155046		2203	4300	6503	100679177	SO:0001583	missense	79158	exon15			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2994T>G	12.37:g.102155046A>C	ENSP00000299314:p.Phe998Leu		100679177	NM_024312	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561912	0.86335	.	.	ENSG00000111670	ENST00000299314	D	0.92048	-2.96	5.86	2.15	0.27550	.	0.000000	0.85682	D	0.000000	D	0.93598	0.7956	M	0.69463	2.115	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	D	0.91270	0.5043	10	0.52906	T	0.07	-24.1281	6.9145	0.24352	0.5998:0.0:0.4002:0.0	.	998	Q3T906	GNPTA_HUMAN	L	998	ENSP00000299314:F998L	ENSP00000299314:F998L	F	-	3	2	GNPTAB	100679177	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.942000	0.40243	0.454000	0.26884	0.533000	0.62120	TTT		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1		
PARPBP	55010	broad.mit.edu	37	12	102542169	102542169	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:102542169A>C	ENST00000358383.5	+	3	360	c.315A>C	c.(313-315)ttA>ttC	p.L105F	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000537257.1_Missense_Mutation_p.L105F|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Missense_Mutation_p.L105F|PARPBP_ENST00000327680.2_Missense_Mutation_p.L24F|PARPBP_ENST00000392911.2_Missense_Mutation_p.L24F|PARPBP_ENST00000541394.1_Missense_Mutation_p.L105F			Q9NWS1	PARI_HUMAN	PARP1 binding protein	105					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L24F(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						GTAATATGTTAGATCTGATTG	0.299																																					p.L105F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A315C	12						.						119.0	125.0	123.0					12																	102542169		2203	4298	6501	101066299	SO:0001583	missense	55010	exon3			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.315A>C	12.37:g.102542169A>C	ENSP00000351153:p.Leu105Phe		101066299	NM_017915	B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	A	16.21	3.057938	0.55325	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000537257;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	T;T;T;T;T;T;T;T	0.57752	0.85;0.38;0.85;0.85;0.85;0.38;0.85;0.85	5.21	2.56	0.30785	.	0.141387	0.47852	D	0.000220	T	0.66819	0.2828	M	0.74258	2.255	0.41896	D	0.990394	D;D;D;D;D;D;D	0.89917	0.998;0.985;0.999;1.0;1.0;0.992;1.0	D;P;D;D;D;D;D	0.91635	0.983;0.893;0.982;0.999;0.999;0.925;0.999	T	0.67373	-0.5687	10	0.72032	D	0.01	-1.1145	6.9529	0.24556	0.6499:0.0:0.3501:0.0	.	105;105;105;105;105;24;105	B4DZ31;Q9NWS1-6;Q9NWS1-7;Q9NWS1-3;Q9NWS1;Q9NWS1-2;Q9NWS1-4	.;.;.;.;PR1BP_HUMAN;.;.	F	105;24;105;105;105;24;72;72	ENSP00000367368:L105F;ENSP00000332915:L24F;ENSP00000440850:L105F;ENSP00000442549:L105F;ENSP00000351153:L105F;ENSP00000376643:L24F;ENSP00000411313:L72F;ENSP00000393867:L72F	ENSP00000332915:L24F	L	+	3	2	C12orf48	101066299	1.000000	0.71417	0.998000	0.56505	0.587000	0.36485	0.729000	0.26028	0.933000	0.37291	-0.371000	0.07208	TTA		0.299	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915	
TDG	6996	broad.mit.edu	37	12	104380749	104380749	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:104380749G>A	ENST00000392872.3	+	10	1348	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	TDG_ENST00000536395.1_3'UTR|TDG_ENST00000544861.1_Missense_Mutation_p.E229K|TDG_ENST00000542036.1_Missense_Mutation_p.E168K|TDG_ENST00000266775.9_Missense_Mutation_p.E368K|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	372					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.E372K(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GTTAAGAGGAGAATCAGCTTT	0.388								Base excision repair (BER), DNA glycosylases																													p.E372K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1114A	12						.						169.0	140.0	150.0					12																	104380749		2203	4300	6503	102904879	SO:0001583	missense	6996	exon10			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.1114G>A	12.37:g.104380749G>A	ENSP00000376611:p.Glu372Lys		102904879	NM_003211	Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524856	0.44969	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.23950	2.22;2.22;2.22;1.88	5.95	5.95	0.96441	.	0.551776	0.19692	N	0.108260	T	0.24198	0.0586	L	0.51422	1.61	0.37295	D	0.908435	P;B;B	0.37276	0.589;0.102;0.054	B;B;B	0.33392	0.163;0.034;0.021	T	0.10660	-1.0620	10	0.45353	T	0.12	-19.1141	12.8264	0.57723	0.0744:0.0:0.9256:0.0	.	168;372;372	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	K	372;368;229;168	ENSP00000376611:E372K;ENSP00000266775:E368K;ENSP00000445899:E229K;ENSP00000439054:E168K	ENSP00000266775:E368K	E	+	1	0	TDG	102904879	0.999000	0.42202	0.964000	0.40570	0.047000	0.14425	3.413000	0.52686	2.824000	0.97209	0.655000	0.94253	GAA		0.388	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2		
TXNRD1	7296	broad.mit.edu	37	12	104713330	104713330	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:104713330G>A	ENST00000529546.1	+	6	617	c.392G>A	c.(391-393)gGc>gAc	p.G131D	TXNRD1_ENST00000503506.2_Missense_Mutation_p.G169D|TXNRD1_ENST00000427956.1_Missense_Mutation_p.G284D|TXNRD1_ENST00000429002.2_Missense_Mutation_p.G319D|TXNRD1_ENST00000526691.1_Missense_Mutation_p.G221D|TXNRD1_ENST00000542918.1_Missense_Mutation_p.G219D|TXNRD1_ENST00000526390.1_Missense_Mutation_p.G213D|TXNRD1_ENST00000354940.6_Missense_Mutation_p.G169D|TXNRD1_ENST00000525566.1_Missense_Mutation_p.G319D|TXNRD1_ENST00000526950.1_Missense_Mutation_p.G238D|TXNRD1_ENST00000524698.1_Missense_Mutation_p.G169D|TXNRD1_ENST00000378070.4_Missense_Mutation_p.G268D|TXNRD1_ENST00000388854.3_Missense_Mutation_p.G221D|TXNRD1_ENST00000397736.2_Missense_Mutation_p.G213D|TXNRD1_ENST00000540716.1_Missense_Mutation_p.G131D			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	319	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.G319D(1)|p.G169D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CGTTACTTGGGCATCCCTGGT	0.383																																					p.G169D	Ovarian(139;555 1836 9186 9946 10884)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G506A	12						.						34.0	32.0	33.0					12																	104713330		1836	4080	5916	103237460	SO:0001583	missense	7296	exon6				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.392G>A	12.37:g.104713330G>A	ENSP00000434919:p.Gly131Asp		103237460	NM_182743	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	5.434	0.265233	0.10294	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;0.81;0.81;-0.43;-0.43;-0.43;0.81;-0.43;-0.43;-0.43	5.16	3.35	0.38373	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.196730	0.53938	N	0.000052	T	0.37625	0.1010	N	0.03224	-0.385	0.48696	D	0.99969	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.12837	0.003;0.001;0.008;0.001;0.0;0.004;0.004	T	0.10337	-1.0634	10	0.09843	T	0.71	-7.4576	9.8307	0.40939	0.2207:0.0:0.7793:0.0	.	219;213;319;221;169;319;284	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	D	319;319;169;221;221;169;213;131;131;169;219;268;169;213;284;238	ENSP00000434516:G319D;ENSP00000412045:G319D;ENSP00000421934:G169D;ENSP00000435929:G221D;ENSP00000373506:G221D;ENSP00000347020:G169D;ENSP00000435123:G213D;ENSP00000434919:G131D;ENSP00000442709:G131D;ENSP00000433425:G169D;ENSP00000440978:G219D;ENSP00000367310:G268D;ENSP00000433599:G169D;ENSP00000380844:G213D;ENSP00000393328:G284D;ENSP00000432812:G238D	ENSP00000347020:G169D	G	+	2	0	TXNRD1	103237460	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.237000	0.51344	0.603000	0.29913	0.638000	0.83543	GGC		0.383	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330	
KLRK1	22914	broad.mit.edu	37	12	10539562	10539562	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:10539562A>C	ENST00000240618.6	-	3	228	c.88T>G	c.(88-90)Ttt>Gtt	p.F30V	KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Missense_Mutation_p.F30V|RP11-277P12.20_ENST00000500682.1_RNA	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	30					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.F30V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CGTGTTGAAAAATCACTCTTC	0.358																																					p.F30V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T88G	12						.						177.0	164.0	169.0					12																	10539562		2203	4299	6502	10430829	SO:0001583	missense	22914	exon8			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"""Killer cell lectin-like receptors"", ""CD molecules"""	18788	protein-coding gene	gene with protein product		611817	"""DNA segment on chromosome 12 (unique) 2489 expressed sequence"""	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.88T>G	12.37:g.10539562A>C	ENSP00000240618:p.Phe30Val		10430829	NM_001199805	A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	ENST00000240618.6	37	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	A	8.616	0.890182	0.17613	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.01359	4.98;4.98	4.24	-8.49	0.00931	.	1.178450	0.06234	N	0.689100	T	0.01353	0.0044	L	0.52573	1.65	0.09310	N	1	B;B;B	0.19817	0.001;0.039;0.009	B;B;B	0.18871	0.002;0.023;0.01	T	0.41822	-0.9487	10	0.32370	T	0.25	.	3.44	0.07460	0.2316:0.4813:0.1103:0.1768	.	30;11;30	Q8WZ67;Q1HEA1;P26718	.;.;NKG2D_HUMAN	V	30	ENSP00000240618:F30V;ENSP00000446003:F30V	ENSP00000240618:F30V	F	-	1	0	KLRK1	10430829	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.379000	0.02554	-1.923000	0.01065	-1.309000	0.01313	TTT		0.358	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360	
KLRC4	8302	broad.mit.edu	37	12	10560298	10560298	+	Missense_Mutation	SNP	C	C	A	rs138156966		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:10560298C>A	ENST00000309384.1	-	4	612	c.431G>T	c.(430-432)aGa>aTa	p.R144I	KLRC4-KLRK1_ENST00000539300.1_Missense_Mutation_p.K135N	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	144					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)		p.R144I(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CCAGCAAACTCTTTCTTCCCA	0.373																																					p.R144I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431T	12						.						176.0	178.0	177.0					12																	10560298		2203	4300	6503	10451565	SO:0001583	missense	8302	exon4			U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.431G>T	12.37:g.10560298C>A	ENSP00000310216:p.Arg144Ile		10451565	NM_013431	O60851	Missense_Mutation	SNP	ENST00000309384.1	37	CCDS8624.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799424	0.31869	.	.	ENSG00000183542	ENST00000309384	T	0.03663	3.85	4.1	-1.44	0.08856	.	0.219432	0.32868	N	0.005555	T	0.02304	0.0071	L	0.29908	0.895	0.19575	N	0.999963	B	0.02656	0.0	B	0.01281	0.0	T	0.40496	-0.9560	10	0.87932	D	0	.	1.1647	0.01813	0.1677:0.2973:0.3258:0.2092	.	144	O43908	NKG2F_HUMAN	I	144	ENSP00000310216:R144I	ENSP00000310216:R144I	R	-	2	0	KLRC4	10451565	0.100000	0.21855	0.007000	0.13788	0.119000	0.20118	-1.236000	0.02925	-0.168000	0.10853	0.585000	0.79938	AGA		0.373	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400108.1	NM_013431	
KLRC1	3821	broad.mit.edu	37	12	10601878	10601878	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:10601878C>T	ENST00000359151.3	-	5	628	c.447G>A	c.(445-447)tcG>tcA	p.S149S	KLRC1_ENST00000347831.5_Silent_p.S131S|KLRC1_ENST00000536188.1_Silent_p.S149S|KLRC1_ENST00000544822.1_Silent_p.S149S|KLRC1_ENST00000408006.3_Silent_p.S131S	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	149	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.S149S(2)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TGGAGTTCTTCGAAGTACAGG	0.368																																					p.S149S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G447A	12						.						171.0	179.0	177.0					12																	10601878		2203	4297	6500	10493145	SO:0001819	synonymous_variant	3821	exon6			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.447G>A	12.37:g.10601878C>T			10493145	NM_213658		Silent	SNP	ENST00000359151.3	37	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	c	2.363	-0.346224	0.05208	.	.	ENSG00000134545	ENST00000543893	.	.	.	4.36	-3.9	0.04181	.	.	.	.	.	T	0.17704	0.0425	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.22977	-1.0201	4	.	.	.	.	1.375	0.02218	0.2337:0.2276:0.3547:0.184	.	.	.	.	Q	29	.	.	R	-	2	0	KLRC1	10493145	0.000000	0.05858	0.037000	0.18230	0.000000	0.00434	-1.511000	0.02260	-1.199000	0.02666	-3.577000	0.00029	CGA		0.368	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259	
CHST11	50515	broad.mit.edu	37	12	105151550	105151550	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:105151550A>G	ENST00000303694.5	+	3	1467	c.1028A>G	c.(1027-1029)tAc>tGc	p.Y343C	CHST11_ENST00000549260.1_Missense_Mutation_p.Y338C	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	343					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.Y343C(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATGTTCAATTACTCAGTGCCA	0.373																																					p.Y338C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1013G	12						.						52.0	56.0	54.0					12																	105151550		2203	4300	6503	103675680	SO:0001583	missense	50515	exon3			AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.1028A>G	12.37:g.105151550A>G	ENSP00000305725:p.Tyr343Cys		103675680	NM_001173982	A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669035	0.67814	.	.	ENSG00000171310	ENST00000549260;ENST00000303694	D;D	0.83250	-1.7;-1.7	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.93648	0.7971	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95450	0.8533	10	0.87932	D	0	-31.0546	15.1454	0.72647	1.0:0.0:0.0:0.0	.	338;343	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	C	338;343	ENSP00000450004:Y338C;ENSP00000305725:Y343C	ENSP00000305725:Y343C	Y	+	2	0	CHST11	103675680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.333000	0.96459	1.989000	0.58080	0.528000	0.53228	TAC		0.373	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413	
NUAK1	9891	broad.mit.edu	37	12	106464596	106464596	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:106464596C>T	ENST00000261402.2	-	6	2167	c.788G>A	c.(787-789)cGg>cAg	p.R263Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.R263Q(2)		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						GCTGATTTGCCGAATGAGGTT	0.562																																					p.R263Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G788A	12						.						137.0	120.0	125.0					12																	106464596		2203	4300	6503	104988726	SO:0001583	missense	9891	exon6			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.788G>A	12.37:g.106464596C>T	ENSP00000261402:p.Arg263Gln		104988726	NM_014840	A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047896	0.75846	.	.	ENSG00000074590	ENST00000261402;ENST00000549704;ENST00000548902	T;T;T	0.65916	-0.18;1.09;-0.18	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132265	0.33272	N	0.005094	T	0.49592	0.1566	N	0.16833	0.445	0.80722	D	1	P	0.52061	0.95	B	0.41646	0.362	T	0.58736	-0.7584	10	0.56958	D	0.05	.	18.1507	0.89674	0.0:1.0:0.0:0.0	.	263	O60285	NUAK1_HUMAN	Q	263;13;132	ENSP00000261402:R263Q;ENSP00000449990:R13Q;ENSP00000448288:R132Q	ENSP00000261402:R263Q	R	-	2	0	NUAK1	104988726	1.000000	0.71417	0.992000	0.48379	0.495000	0.33615	4.957000	0.63652	2.275000	0.75901	0.563000	0.77884	CGG		0.562	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840	
PWP1	11137	broad.mit.edu	37	12	108098436	108098436	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:108098436G>A	ENST00000412830.3	+	11	1157	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	PWP1_ENST00000541166.1_Missense_Mutation_p.R268Q	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	330					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R330Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TATGACTGCCGAAGTCCAGAT	0.388																																					p.R330Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G989A	12						.						220.0	190.0	200.0					12																	108098436		2203	4300	6503	106622566	SO:0001583	missense	11137	exon11			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.989G>A	12.37:g.108098436G>A	ENSP00000387365:p.Arg330Gln		106622566	NM_007062	A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	G	36	5.818589	0.96982	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000541166	T;T	0.35236	1.32;2.12	5.83	5.83	0.93111	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	0.70500	0.3231	M	0.92784	3.345	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.77319	-0.2632	10	0.87932	D	0	.	19.7159	0.96121	0.0:0.0:1.0:0.0	.	330	Q13610	PWP1_HUMAN	Q	330;330;268	ENSP00000387365:R330Q;ENSP00000445249:R268Q	ENSP00000258531:R330Q	R	+	2	0	PWP1	106622566	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	9.333000	0.96459	2.758000	0.94735	0.655000	0.94253	CGA		0.388	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062	
ISCU	23479	broad.mit.edu	37	12	108961001	108961001	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:108961001C>T	ENST00000311893.9	+	4	397	c.375C>T	c.(373-375)atC>atT	p.I125I	ISCU_ENST00000392807.4_Silent_p.I100I|ISCU_ENST00000547005.1_Silent_p.I125I|ISCU_ENST00000539593.1_Silent_p.I125I|ISCU_ENST00000535729.1_Silent_p.I125I|ISCU_ENST00000338291.4_Silent_p.I100I|ISCU_ENST00000431221.2_Silent_p.I125I	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	125					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)	p.I100I(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						ACACAGATATCGCCAAGGAGC	0.478																																					p.S125L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C374T	12						.						154.0	132.0	140.0					12																	108961001		2203	4300	6503	107485130	SO:0001819	synonymous_variant	23479	exon4			U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"""NifU-like N-terminal domain containing"", ""IscU iron-sulfur cluster scaffold homolog (E. coli)"", ""iron-sulfur cluster scaffold homolog (E. coli)"""	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.375C>T	12.37:g.108961001C>T			107485130	NM_213595	Q6P713|Q99617|Q9H1K2	Silent	SNP	ENST00000311893.9	37	CCDS44966.1																																																																																				0.478	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301	
KCTD10	83892	broad.mit.edu	37	12	109895809	109895809	+	Silent	SNP	C	C	T	rs555660362		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:109895809C>T	ENST00000228495.6	-	4	743	c.462G>A	c.(460-462)gcG>gcA	p.A154A	KCTD10_ENST00000540089.1_5'UTR|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Silent_p.A151A|KCTD10_ENST00000424763.2_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	154					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)		p.A154A(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TATTTGAAGTCGCTATAAGTT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		21501	0.001		0.0	False		,,,				2504	0.0				p.A154A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G462A	12						.						143.0	132.0	136.0					12																	109895809		2203	4300	6503	108380192	SO:0001819	synonymous_variant	83892	exon4			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.462G>A	12.37:g.109895809C>T			108380192	NM_031954	Q53HN2|Q59FV1|Q6PL47|Q96SU0	Silent	SNP	ENST00000228495.6	37	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233527	0.22626	.	.	ENSG00000110906	ENST00000538161	.	.	.	4.46	-3.88	0.04205	.	.	.	.	.	T	0.51534	0.1680	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51309	-0.8722	4	.	.	.	-21.9203	8.8107	0.34965	0.0:0.1737:0.5185:0.3077	.	.	.	.	Q	120	.	.	R	-	2	0	KCTD10	108380192	0.018000	0.18449	0.910000	0.35882	0.965000	0.64279	-1.578000	0.02125	-0.452000	0.07087	-0.258000	0.10820	CGA		0.383	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954	
TAS2R9	50835	broad.mit.edu	37	12	10962078	10962078	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:10962078G>T	ENST00000240691.2	-	1	689	c.597C>A	c.(595-597)ttC>ttA	p.F199L	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	199					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)	p.F199L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAAGTAACAAGAAAAATGAGA	0.453																																					p.F199L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C597A	12						.						83.0	83.0	83.0					12																	10962078		2203	4300	6503	10853345	SO:0001583	missense	50835	exon1			AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.597C>A	12.37:g.10962078G>T	ENSP00000240691:p.Phe199Leu		10853345	NM_023917	Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368429	0.24771	.	.	ENSG00000121381	ENST00000240691	T	0.35236	1.32	4.07	0.108	0.14548	GPCR, rhodopsin-like superfamily (1);	2.345980	0.03281	N	0.186170	T	0.16642	0.0400	N	0.04245	-0.25	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.15150	-1.0447	10	0.17832	T	0.49	.	3.6165	0.08079	0.4093:0.1917:0.399:0.0	.	199	Q9NYW1	TA2R9_HUMAN	L	199	ENSP00000240691:F199L	ENSP00000240691:F199L	F	-	3	2	TAS2R9	10853345	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.718000	0.04980	0.135000	0.18707	0.650000	0.86243	TTC		0.453	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1		
TAS2R9	50835	broad.mit.edu	37	12	10962438	10962438	+	Silent	SNP	G	G	A	rs376745268		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:10962438G>A	ENST00000240691.2	-	1	329	c.237C>T	c.(235-237)agC>agT	p.S79S	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	79					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)	p.S79S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTACTAGCACGCTATTGCCAT	0.408																																					p.S79S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C237T	12						.	G		0,4406		0,0,2203	105.0	101.0	103.0		237	-3.5	0.0	12		103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS2R9	NM_023917.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		79/313	10962438	1,13005	2203	4300	6503	10853705	SO:0001819	synonymous_variant	50835	exon1			AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.237C>T	12.37:g.10962438G>A			10853705	NM_023917	Q502V7|Q50KT0|Q50KT1|Q645W9	Silent	SNP	ENST00000240691.2	37	CCDS8633.1																																																																																				0.408	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1		
KCTD10	83892	broad.mit.edu	37	12	109898554	109898554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:109898554G>A	ENST00000228495.6	-	3	555	c.274C>T	c.(274-276)Cga>Tga	p.R92*	KCTD10_ENST00000540089.1_5'Flank|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Nonsense_Mutation_p.R89*|KCTD10_ENST00000424763.2_Intron	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)		p.R92*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GCCCCGTCTCGAAGGTAGTTG	0.597																																					p.R92X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C274T	12						.						86.0	76.0	80.0					12																	109898554		2203	4300	6503	108382937	SO:0001587	stop_gained	83892	exon3			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.274C>T	12.37:g.109898554G>A	ENSP00000228495:p.Arg92*		108382937	NM_031954	Q53HN2|Q59FV1|Q6PL47|Q96SU0	Nonsense_Mutation	SNP	ENST00000228495.6	37	CCDS9128.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379694	0.95945	.	.	ENSG00000110906	ENST00000228495;ENST00000540411;ENST00000542262;ENST00000542858	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7217	18.1313	0.89602	0.0:0.0:1.0:0.0	.	.	.	.	X	92;89;92;92	.	ENSP00000228495:R92X	R	-	1	2	KCTD10	108382937	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.944000	0.56629	2.770000	0.95276	0.650000	0.86243	CGA		0.597	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403099.1	NM_031954	
TRPV4	59341	broad.mit.edu	37	12	110240815	110240815	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:110240815G>T	ENST00000418703.2	-	3	787	c.693C>A	c.(691-693)ttC>ttA	p.F231L	TRPV4_ENST00000544971.1_Missense_Mutation_p.F231L|TRPV4_ENST00000537083.1_Missense_Mutation_p.F231L|TRPV4_ENST00000541794.1_Missense_Mutation_p.F231L|TRPV4_ENST00000392719.2_Missense_Mutation_p.F231L|TRPV4_ENST00000261740.2_Missense_Mutation_p.F231L|TRPV4_ENST00000536838.1_Missense_Mutation_p.F197L|TRPV4_ENST00000346520.2_Missense_Mutation_p.F231L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	231					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)	p.F231L(1)		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						AGATGTCACGGAAGGGCGAGT	0.607																																					p.F231L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C693A	12						.						89.0	73.0	78.0					12																	110240815		2203	4300	6503	108725198	SO:0001583	missense	59341	exon4			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.693C>A	12.37:g.110240815G>T	ENSP00000406191:p.Phe231Leu		108725198	NM_021625	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618334	0.66787	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.89552	-2.45;-2.45;-2.34;-2.53;-2.36;-2.53;-2.34;-2.43	4.51	3.6	0.41247	Ankyrin repeat-containing domain (1);	0.245025	0.48286	D	0.000200	D	0.89276	0.6669	N	0.24115	0.695	0.30346	N	0.785259	D;D;D;P;D	0.89917	1.0;1.0;0.999;0.723;0.969	D;D;D;P;P	0.85130	0.997;0.99;0.994;0.62;0.834	D	0.86281	0.1667	10	0.54805	T	0.06	-16.7152	11.8112	0.52183	0.0882:0.0:0.9118:0.0	.	231;231;231;231;197	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	L	231;231;231;231;231;231;231;197	ENSP00000406191:F231L;ENSP00000261740:F231L;ENSP00000376480:F231L;ENSP00000319003:F231L;ENSP00000443611:F231L;ENSP00000442738:F231L;ENSP00000442167:F231L;ENSP00000444336:F197L	ENSP00000261740:F231L	F	-	3	2	TRPV4	108725198	1.000000	0.71417	0.986000	0.45419	0.671000	0.39405	2.244000	0.43124	1.003000	0.39130	0.561000	0.74099	TTC		0.607	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
GIT2	9815	broad.mit.edu	37	12	110385284	110385284	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:110385284G>A	ENST00000355312.3	-	15	1417	c.1418C>T	c.(1417-1419)tCg>tTg	p.S473L	GIT2_ENST00000338373.5_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.S393L|GIT2_ENST00000354574.4_Missense_Mutation_p.S425L|GIT2_ENST00000551209.1_Missense_Mutation_p.S422L|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000361006.5_Missense_Mutation_p.S473L|GIT2_ENST00000360185.4_Missense_Mutation_p.S423L|GIT2_ENST00000457474.2_Missense_Mutation_p.S425L	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	473					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S473L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTGAGGTTCGAATTTTCACT	0.418																																					p.S473L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1418T	12						.						141.0	139.0	140.0					12																	110385284		2203	4300	6503	108869667	SO:0001583	missense	9815	exon15			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1418C>T	12.37:g.110385284G>A	ENSP00000347464:p.Ser473Leu		108869667	NM_001135214	Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688343	0.48097	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273	T;T;T;T;T;T;T	0.75821	-0.64;-0.62;-0.97;-0.71;-0.93;-0.63;-0.68	5.84	5.84	0.93424	.	0.159289	0.52532	D	0.000061	T	0.67942	0.2947	L	0.38175	1.15	0.80722	D	1	B;B;B;B;B	0.10296	0.002;0.002;0.001;0.003;0.002	B;B;B;B;B	0.10450	0.005;0.005;0.002;0.003;0.005	T	0.60156	-0.7318	10	0.27082	T	0.32	.	19.1386	0.93438	0.0:0.0:1.0:0.0	.	425;425;473;411;473	Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5	.;.;GIT2_HUMAN;.;.	L	473;423;425;393;425;473;422;411	ENSP00000347464:S473L;ENSP00000353312:S423L;ENSP00000346585:S425L;ENSP00000340938:S393L;ENSP00000391813:S425L;ENSP00000354282:S473L;ENSP00000448832:S422L	ENSP00000340938:S393L	S	-	2	0	GIT2	108869667	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.105000	0.71505	2.770000	0.95276	0.460000	0.39030	TCG		0.418	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169	
ATP2A2	488	broad.mit.edu	37	12	110734428	110734428	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:110734428G>A	ENST00000539276.2	+	5	458	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	ATP2A2_ENST00000395494.2_Missense_Mutation_p.E117K|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E117K|ATP2A2_ENST00000552636.1_Silent_p.S16S|ATP2A2_ENST00000550248.2_3'UTR			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	117					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.E117K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AAATGCCATCGAAGCCCTTAA	0.393																																					p.E117K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349A	12						.						141.0	142.0	142.0					12																	110734428		2203	4300	6503	109218811	SO:0001583	missense	488	exon5				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.349G>A	12.37:g.110734428G>A	ENSP00000440045:p.Glu117Lys		109218811	NM_170665	A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.614839|5.614839	0.96649|0.96649	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.89343|.	-2.5;-2.5;-2.5|.	5.45|5.45	5.45|5.45	0.79879|0.79879	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70833|0.70833	0.3269|0.3269	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46859|.	0.885;0.455;0.817|.	B;B;B|.	0.40982|.	0.345;0.086;0.194|.	T|T	0.67047|0.67047	-0.5769|-0.5769	10|5	0.59425|.	D|.	0.04|.	.|.	19.2648|19.2648	0.93982|0.93982	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	117;117;117|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	K|Q	117|34	ENSP00000311186:E117K;ENSP00000378872:E117K;ENSP00000440045:E117K|.	ENSP00000311186:E117K|.	E|R	+|+	1|2	0|0	ATP2A2|ATP2A2	109218811|109218811	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.946000|0.946000	0.59487|0.59487	9.466000|9.466000	0.97665|0.97665	2.550000|2.550000	0.86006|0.86006	0.579000|0.579000	0.79373|0.79373	GAA|CGA		0.393	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681	
ATP2A2	488	broad.mit.edu	37	12	110778557	110778557	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:110778557C>T	ENST00000539276.2	+	14	1964	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	ATP2A2_ENST00000395494.2_Missense_Mutation_p.R592W|ATP2A2_ENST00000308664.6_Missense_Mutation_p.R619W			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	619					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.R619W(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGCAGGCATCCGGGTCATCAT	0.577																																					p.R619W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1855T	12						.						95.0	90.0	92.0					12																	110778557		2203	4300	6503	109262940	SO:0001583	missense	488	exon14				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1855C>T	12.37:g.110778557C>T	ENSP00000440045:p.Arg619Trp		109262940	NM_170665	A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.997224|3.997224	0.74818|0.74818	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.96491	.|-4.03;-4.03;-4.03	5.93|5.93	4.06|4.06	0.47325|0.47325	.|Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98492|0.98492	0.9497|0.9497	H|H	0.97365|0.97365	3.99|3.99	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.76494	.|0.973;0.998;0.999	.|P;P;P	.|0.58077	.|0.553;0.709;0.832	D|D	0.98773|0.98773	1.0729|1.0729	5|10	.|0.87932	.|D	.|0	.|.	14.6171|14.6171	0.68558|0.68558	0.5048:0.4952:0.0:0.0|0.5048:0.4952:0.0:0.0	.|.	.|592;619;619	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	L|W	509|619;592;619	.|ENSP00000311186:R619W;ENSP00000378872:R592W;ENSP00000440045:R619W	.|ENSP00000311186:R619W	P|R	+|+	2|1	0|2	ATP2A2|ATP2A2	109262940|109262940	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.983000|0.983000	0.72400|0.72400	1.189000|1.189000	0.32114|0.32114	0.792000|0.792000	0.33850|0.33850	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.577	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681	
PRH2	5555	broad.mit.edu	37	12	11082879	11082879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:11082879G>T	ENST00000396400.3	+	2	114	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Nonsense_Mutation_p.E26*	NM_001110213.1	NP_001103683.1	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	26	Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium.					extracellular space (GO:0005615)		p.E26*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	13						TGTCAGCCAAGAAGACGTTCC	0.393																																					p.E26X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G76T	12						.						172.0	159.0	163.0					12																	11082879		2203	4300	6503	10974146	SO:0001587	stop_gained	5555	exon2				CCDS8636.1	12p13.2	2012-10-02				ENSG00000134551			9367	protein-coding gene	gene with protein product	"""parotid proline-rich protein"", ""acidic salivary proline-rich protein, HaeIII type, 2"""	168790				3009472	Standard	NM_005042		Approved	Pr	uc001qzi.4	P02810		ENST00000396400.3:c.76G>T	12.37:g.11082879G>T	ENSP00000379682:p.Glu26*		10974146	NM_005042	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Nonsense_Mutation	SNP	ENST00000396400.3	37	CCDS8636.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320813	0.23994	.	.	ENSG00000134551	ENST00000381847;ENST00000396400;ENST00000256972	.	.	.	0.647	0.647	0.17796	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	26	.	ENSP00000256972:E26X	E	+	1	0	PRH2	10974146	0.007000	0.16637	0.003000	0.11579	0.023000	0.10783	1.696000	0.37773	0.613000	0.30089	0.194000	0.17425	GAA		0.393	PRH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400231.1	NM_001110213	
TAS2R14	50840	broad.mit.edu	37	12	11091630	11091630	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:11091630A>C	ENST00000537503.1	-	1	232	c.177T>G	c.(175-177)gtT>gtG	p.V59V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	59					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.V59V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						ATATTAACCAAACCAGGCTAA	0.423																																					p.V59V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T177G	12						.						57.0	58.0	58.0					12																	11091630		2203	4300	6503	10982897	SO:0001819	synonymous_variant	50840	exon1			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.177T>G	12.37:g.11091630A>C			10982897	NM_023922	Q645X3	Silent	SNP	ENST00000537503.1	37	CCDS8637.1																																																																																				0.423	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922	
PPP1CC	5501	broad.mit.edu	37	12	111168404	111168404	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:111168404C>A	ENST00000335007.5	-	3	538	c.348G>T	c.(346-348)gaG>gaT	p.E116D	PPP1CC_ENST00000550991.1_Missense_Mutation_p.E116D|PPP1CC_ENST00000551690.1_5'Flank|PPP1CC_ENST00000551676.1_Missense_Mutation_p.E116D|PPP1CC_ENST00000340766.5_Missense_Mutation_p.E116D|PPP1CC_ENST00000546933.1_Missense_Mutation_p.E125D	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	116					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)	p.E116D(1)		central_nervous_system(1)|large_intestine(2)|lung(3)	6						GAAAAAAATTCTCAGGATATT	0.388																																					p.E116D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G348T	12						.						62.0	67.0	65.0					12																	111168404		2203	4300	6503	109652787	SO:0001583	missense	5501	exon3				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.348G>T	12.37:g.111168404C>A	ENSP00000335084:p.Glu116Asp		109652787	NM_002710		Missense_Mutation	SNP	ENST00000335007.5	37	CCDS9150.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211746	0.58452	.	.	ENSG00000186298	ENST00000335007;ENST00000340766;ENST00000546933;ENST00000550991;ENST00000551676	T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54	5.61	3.78	0.43462	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.100830	0.64402	D	0.000001	T	0.04861	0.0131	N	0.13235	0.315	0.53005	D	0.999965	B	0.02656	0.0	B	0.09377	0.004	T	0.34576	-0.9823	10	0.87932	D	0	-8.7556	12.5022	0.55962	0.0:0.8636:0.0:0.1364	.	116	P36873	PP1G_HUMAN	D	116;116;125;116;116	ENSP00000335084:E116D;ENSP00000341779:E116D;ENSP00000447122:E125D;ENSP00000448981:E116D;ENSP00000448437:E116D	ENSP00000335084:E116D	E	-	3	2	PPP1CC	109652787	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	3.964000	0.56780	0.837000	0.34925	0.462000	0.41574	GAG		0.388	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1		
TAS2R50	259296	broad.mit.edu	37	12	11138638	11138638	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:11138638G>A	ENST00000506868.1	-	1	873	c.822C>T	c.(820-822)ttC>ttT	p.F274F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	274					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.F274F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TGAATGAGTCGAATGCAAGAT	0.413																																					p.F274F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C822T	12						.						76.0	81.0	79.0					12																	11138638		2203	4300	6503	11029905	SO:0001819	synonymous_variant	259296	exon1			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.822C>T	12.37:g.11138638G>A			11029905	NM_176890	P59545|Q2M255|Q645Y0	Silent	SNP	ENST00000506868.1	37	CCDS8638.1																																																																																				0.413	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890	
TAS2R50	259296	broad.mit.edu	37	12	11138717	11138717	+	Missense_Mutation	SNP	G	G	A	rs202189587		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:11138717G>A	ENST00000506868.1	-	1	794	c.743C>T	c.(742-744)tCg>tTg	p.S248L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	248					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.S248L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ACTCCAAACCGAAACGATTAG	0.443													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20855	0.0		0.0	False		,,,				2504	0.0				p.S248L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C743T	12						.						92.0	91.0	91.0					12																	11138717		2203	4300	6503	11029984	SO:0001583	missense	259296	exon1			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.743C>T	12.37:g.11138717G>A	ENSP00000424040:p.Ser248Leu		11029984	NM_176890	P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	CCDS8638.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.452	1.090936	0.20471	.	.	ENSG00000212126	ENST00000506868	T	0.00856	5.61	2.01	-1.69	0.08186	.	0.878422	0.09043	U	0.857067	T	0.01124	0.0037	L	0.52126	1.63	0.09310	N	1	P	0.41188	0.741	B	0.38458	0.274	T	0.41840	-0.9486	10	0.56958	D	0.05	.	5.5316	0.16987	0.4918:0.0:0.5082:0.0	.	248	P59544	T2R50_HUMAN	L	248	ENSP00000424040:S248L	ENSP00000424040:S248L	S	-	2	0	TAS2R50	11029984	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.247000	0.08866	-0.739000	0.04809	-0.657000	0.03884	TCG		0.443	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890	
CUX2	23316	broad.mit.edu	37	12	111652084	111652084	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:111652084C>T	ENST00000261726.6	+	2	298	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	48					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.L48L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TAATTGAACTCCGCCGGGAAT	0.373																																					p.L48L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C144T	12						.						49.0	49.0	49.0					12																	111652084		1816	4079	5895	110136467	SO:0001819	synonymous_variant	23316	exon2			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.144C>T	12.37:g.111652084C>T			110136467	NM_015267	A7E2Y4	Silent	SNP	ENST00000261726.6	37	CCDS41837.1																																																																																				0.373	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	
TMEM116	89894	broad.mit.edu	37	12	112371793	112371793	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:112371793C>A	ENST00000550831.3	-	8	722	c.354G>T	c.(352-354)gtG>gtT	p.V118V	TMEM116_ENST00000355445.3_Silent_p.V175V|TMEM116_ENST00000549537.2_Silent_p.V24V|TMEM116_ENST00000552374.2_Silent_p.V210V|TMEM116_ENST00000437003.2_Silent_p.V118V|TMEM116_ENST00000354825.3_Silent_p.V118V	NM_138341.2	NP_612350.1	Q8NCL8	TM116_HUMAN	transmembrane protein 116	118						integral component of membrane (GO:0016021)		p.V118V(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						CAGTTGACTTCACAAACTTCT	0.483																																					p.V118V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G354T	12						.						111.0	97.0	102.0					12																	112371793		2203	4300	6503	110856176	SO:0001819	synonymous_variant	89894	exon8			AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000550831.3:c.354G>T	12.37:g.112371793C>A			110856176	NM_138341	G3V1W7|G5E985|Q6NSH5|Q8IZ66	Silent	SNP	ENST00000550831.3	37	CCDS9157.1																																																																																				0.483	TMEM116-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405026.3	NM_138341	
NAA25	80018	broad.mit.edu	37	12	112479863	112479863	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:112479863G>T	ENST00000261745.4	-	20	2668	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	807						cytoplasm (GO:0005737)		p.S807Y(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTCTAGTAAAGACTTAAAACT	0.303																																					p.S807Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2420A	12						.						87.0	81.0	83.0					12																	112479863		2189	4296	6485	110964246	SO:0001583	missense	80018	exon20			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2420C>A	12.37:g.112479863G>T	ENSP00000261745:p.Ser807Tyr		110964246	NM_024953	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871600	0.72065	.	.	ENSG00000111300	ENST00000261745;ENST00000550701	T	0.26810	1.71	5.9	4.01	0.46588	.	0.055490	0.85682	N	0.000000	T	0.29914	0.0748	L	0.34521	1.04	0.50171	D	0.999856	D	0.56521	0.976	P	0.51016	0.656	T	0.04216	-1.0968	10	0.87932	D	0	-5.39	14.2813	0.66213	0.0:0.0:0.7282:0.2718	.	807	Q14CX7	NAA25_HUMAN	Y	807;13	ENSP00000261745:S807Y	ENSP00000261745:S807Y	S	-	2	0	NAA25	110964246	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.520000	0.67080	0.770000	0.33336	0.655000	0.94253	TCT		0.303	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953	
RPL6	6128	broad.mit.edu	37	12	112843793	112843793	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:112843793A>C	ENST00000424576.2	-	6	763	c.578T>G	c.(577-579)tTt>tGt	p.F193C	RPL6_ENST00000202773.9_Missense_Mutation_p.F193C	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	193				LNRVPLRRTHQKFVIATSTKIDISN -> SIEFLYEEHTRN LSLPLQPKSISAI (in Ref. 5; AAB30819). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F193C(2)		cervix(1)|large_intestine(6)|lung(3)	10						GGCAATGACAAATTTCTGGTG	0.413																																					p.F193C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T578G	12						.						48.0	50.0	49.0					12																	112843793		2203	4298	6501	111328176	SO:0001583	missense	6128	exon6			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.578T>G	12.37:g.112843793A>C	ENSP00000403172:p.Phe193Cys		111328176	NM_001024662	Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167826	0.57476	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.35048	1.33;1.33	5.05	5.05	0.67936	Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.85630	2.765	0.58432	D	0.999997	B	0.19200	0.034	B	0.27262	0.078	T	0.53542	-0.8424	10	0.87932	D	0	.	14.8254	0.70107	1.0:0.0:0.0:0.0	.	193	Q02878	RL6_HUMAN	C	193;193;133	ENSP00000202773:F193C;ENSP00000403172:F193C	ENSP00000202773:F193C	F	-	2	0	RPL6	111328176	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.604000	0.90877	1.906000	0.55180	0.482000	0.46254	TTT		0.413	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1		
RPH3A	22895	broad.mit.edu	37	12	113316953	113316953	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:113316953C>T	ENST00000389385.4	+	14	1698	c.1201C>T	c.(1201-1203)Ctc>Ttc	p.L401F	RPH3A_ENST00000548866.1_Missense_Mutation_p.L352F|RPH3A_ENST00000543106.2_Missense_Mutation_p.L401F|RPH3A_ENST00000415485.3_Missense_Mutation_p.L401F|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Missense_Mutation_p.L352F|RPH3A_ENST00000551052.1_Missense_Mutation_p.L397F|RPH3A_ENST00000420983.2_Missense_Mutation_p.L401F	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	401	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.L397F(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATTCAGCCTTCTCTACGACCA	0.537																																					p.L397F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1189T	12						.						171.0	154.0	160.0					12																	113316953		2203	4300	6503	111801336	SO:0001583	missense	22895	exon13			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1201C>T	12.37:g.113316953C>T	ENSP00000374036:p.Leu401Phe		111801336	NM_014954	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033432	0.54896	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.38	5.38	0.77491	C2 calcium/lipid-binding domain, CaLB (1);	0.225469	0.30556	N	0.009370	T	0.18923	0.0454	M	0.67953	2.075	0.44388	D	0.997299	B;B;B;B	0.25048	0.117;0.076;0.076;0.117	B;B;B;B	0.22880	0.042;0.031;0.031;0.042	T	0.03695	-1.1012	10	0.52906	T	0.07	.	8.3303	0.32182	0.0:0.8318:0.0:0.1682	.	352;401;401;397	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	F	401;401;352;397;401;352;401;53;53	ENSP00000440384:L401F;ENSP00000374036:L401F;ENSP00000413254:L352F;ENSP00000448297:L397F;ENSP00000405357:L401F;ENSP00000450347:L352F;ENSP00000408889:L401F	ENSP00000374036:L401F	L	+	1	0	RPH3A	111801336	0.965000	0.33210	1.000000	0.80357	0.992000	0.81027	2.552000	0.45828	2.512000	0.84698	0.555000	0.69702	CTC		0.537	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954	
OAS3	4940	broad.mit.edu	37	12	113398967	113398967	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:113398967C>T	ENST00000228928.7	+	8	1928	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	583	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.F583F(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AGGCCTGCTTCGCAGAGCTGC	0.582																																					p.F583F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1749T	12						.						55.0	57.0	56.0					12																	113398967		1998	4178	6176	111883350	SO:0001819	synonymous_variant	4940	exon8			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1749C>T	12.37:g.113398967C>T			111883350	NM_006187	Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	CCDS44981.1																																																																																				0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1		
RBM19	9904	broad.mit.edu	37	12	114397065	114397065	+	Missense_Mutation	SNP	C	C	T	rs142721968		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:114397065C>T	ENST00000545145.2	-	5	601	c.523G>A	c.(523-525)Gat>Aat	p.D175N	RBM19_ENST00000392561.3_Missense_Mutation_p.D175N|RBM19_ENST00000261741.5_Missense_Mutation_p.D175N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	175					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D175N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGCCCAGAATCGGAGTCGAAG	0.632																																					p.D175N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G523A	12						.	C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	141.0	115.0	124.0		523,523,523	5.4	0.4	12	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	175/961,175/961,175/961	114397065	1,13005	2203	4300	6503	112881448	SO:0001583	missense	9904	exon5			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.523G>A	12.37:g.114397065C>T	ENSP00000442053:p.Asp175Asn		112881448	NM_016196	A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565100	0.96527	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.07327	3.2;3.2;3.2	5.42	5.42	0.78866	.	0.092996	0.64402	D	0.000001	T	0.28599	0.0708	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	P	0.60236	0.871	T	0.00967	-1.1497	10	0.45353	T	0.12	-40.22	19.2386	0.93873	0.0:1.0:0.0:0.0	.	175	Q9Y4C8	RBM19_HUMAN	N	175	ENSP00000442053:D175N;ENSP00000376344:D175N;ENSP00000261741:D175N	ENSP00000261741:D175N	D	-	1	0	RBM19	112881448	1.000000	0.71417	0.448000	0.26945	0.953000	0.61014	5.448000	0.66612	2.543000	0.85770	0.650000	0.86243	GAT		0.632	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
MED13L	23389	broad.mit.edu	37	12	116446527	116446527	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:116446527C>T	ENST00000281928.3	-	10	1897	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	564						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R564Q(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTCCTGACCTCGTGGCTGAGG	0.498																																					p.R564Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1691A	12						.						93.0	79.0	83.0					12																	116446527		2203	4300	6503	114930910	SO:0001583	missense	23389	exon10			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1691G>A	12.37:g.116446527C>T	ENSP00000281928:p.Arg564Gln		114930910	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	8.951	0.968198	0.18659	.	.	ENSG00000123066	ENST00000281928	T	0.74632	-0.86	5.91	5.91	0.95273	.	0.130058	0.51477	D	0.000090	T	0.58680	0.2139	L	0.34521	1.04	0.33993	D	0.649332	B	0.31209	0.313	B	0.13407	0.009	T	0.61739	-0.7001	10	0.06365	T	0.9	.	15.7416	0.77901	0.0:0.8642:0.1358:0.0	.	564	Q71F56	MD13L_HUMAN	Q	564	ENSP00000281928:R564Q	ENSP00000281928:R564Q	R	-	2	0	MED13L	114930910	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	3.694000	0.54742	2.813000	0.96785	0.655000	0.94253	CGA		0.498	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
NOS1	4842	broad.mit.edu	37	12	117749304	117749304	+	Silent	SNP	G	G	A	rs369890513		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:117749304G>A	ENST00000338101.4	-	2	823	c.819C>T	c.(817-819)gtC>gtT	p.V273V	NOS1_ENST00000317775.6_Silent_p.V273V|NOS1_ENST00000344089.3_Silent_p.V273V			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.V273V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGTTGAGGACGACAGGCACAT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		21398	0.001		0.0	False		,,,				2504	0.0				p.V273V	Esophageal Squamous(162;1748 2599 51982 52956)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C819T	12						.	G	,	0,4034		0,0,2017	69.0	69.0	69.0		819,819	-11.3	0.1	12		69	1,8375		0,1,4187	no	coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204218.1	,	0,1,6204	AA,AG,GG		0.0119,0.0,0.0081	,	273/1435,273/1469	117749304	1,12409	2017	4188	6205	116233687	SO:0001819	synonymous_variant	4842	exon3				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.819C>T	12.37:g.117749304G>A			116233687	NM_000620		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
TAOK3	51347	broad.mit.edu	37	12	118637026	118637026	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:118637026C>A	ENST00000392533.3	-	13	1514	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	TAOK3_ENST00000419821.2_Missense_Mutation_p.D342Y	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	342					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.D342Y(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCAGGCTGTCCATTTCCCTG	0.493																																					p.D342Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024T	12						.						166.0	112.0	131.0					12																	118637026		2203	4300	6503	117121409	SO:0001583	missense	51347	exon13			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1024G>T	12.37:g.118637026C>A	ENSP00000376317:p.Asp342Tyr		117121409	NM_016281	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971429	0.53614	.	.	ENSG00000135090	ENST00000419821;ENST00000392533	T;T	0.72615	-0.67;-0.67	5.01	5.01	0.66863	Protein kinase-like domain (1);	0.052116	0.85682	D	0.000000	T	0.64627	0.2615	N	0.22421	0.69	0.80722	D	1	P	0.40250	0.709	B	0.42738	0.396	T	0.70241	-0.4926	10	0.72032	D	0.01	.	18.5063	0.90898	0.0:1.0:0.0:0.0	.	342	Q9H2K8	TAOK3_HUMAN	Y	342	ENSP00000416374:D342Y;ENSP00000376317:D342Y	ENSP00000376317:D342Y	D	-	1	0	TAOK3	117121409	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.528000	0.60580	2.606000	0.88127	0.585000	0.79938	GAC		0.493	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
CIT	11113	broad.mit.edu	37	12	120172009	120172009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:120172009G>A	ENST00000261833.7	-	25	3236	c.3184C>T	c.(3184-3186)Cga>Tga	p.R1062*	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Nonsense_Mutation_p.R1104*	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1062					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R1062*(1)|p.R1105*(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCAGCTCTCGAACCCGACAC	0.557																																					p.R1062X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3184T	12						.						120.0	101.0	108.0					12																	120172009		2203	4300	6503	118656392	SO:0001587	stop_gained	11113	exon25			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3184C>T	12.37:g.120172009G>A	ENSP00000261833:p.Arg1062*		118656392	NM_007174	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Nonsense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	38	6.816602	0.97861	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026	.	.	.	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8503	0.70292	0.0:0.0:0.8472:0.1528	.	.	.	.	X	1104;1062;104	.	ENSP00000261833:R1062X	R	-	1	2	CIT	118656392	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.030000	0.64128	2.508000	0.84585	0.467000	0.42956	CGA		0.557	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
GCN1L1	10985	broad.mit.edu	37	12	120602249	120602249	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:120602249A>G	ENST00000300648.6	-	18	1751	c.1739T>C	c.(1738-1740)gTc>gCc	p.V580A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	580					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.V580A(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCTGCGGACGTGCCAGGT	0.632																																					p.V580A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1739C	12						.						49.0	54.0	52.0					12																	120602249		1971	4150	6121	119086632	SO:0001583	missense	10985	exon18			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1739T>C	12.37:g.120602249A>G	ENSP00000300648:p.Val580Ala		119086632	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	35	5.588669	0.96590	.	.	ENSG00000089154	ENST00000300648	T	0.09073	3.02	5.83	5.83	0.93111	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	D	0.65684	0.937	T	0.01692	-1.1294	10	0.62326	D	0.03	.	16.2009	0.82078	1.0:0.0:0.0:0.0	.	580	Q92616	GCN1L_HUMAN	A	580	ENSP00000300648:V580A	ENSP00000300648:V580A	V	-	2	0	GCN1L1	119086632	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	8.653000	0.91088	2.235000	0.73313	0.533000	0.62120	GTC		0.632	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
GCN1L1	10985	broad.mit.edu	37	12	120602455	120602455	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:120602455T>G	ENST00000300648.6	-	17	1695	c.1683A>C	c.(1681-1683)aaA>aaC	p.K561N		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	561					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.K561N(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTACTGAACTTTGTTGCCAG	0.512																																					p.K561N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1683C	12						.						135.0	136.0	136.0					12																	120602455		1997	4156	6153	119086838	SO:0001583	missense	10985	exon17			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1683A>C	12.37:g.120602455T>G	ENSP00000300648:p.Lys561Asn		119086838	NM_006836	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438801	0.43326	.	.	ENSG00000089154	ENST00000300648	T	0.04551	3.6	5.83	4.66	0.58398	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.200449	0.51477	D	0.000082	T	0.05593	0.0147	L	0.48877	1.53	0.58432	D	0.999999	B	0.26483	0.15	B	0.31686	0.134	T	0.38628	-0.9652	10	0.17369	T	0.5	.	8.2229	0.31552	0.0:0.0688:0.1353:0.7959	.	561	Q92616	GCN1L_HUMAN	N	561	ENSP00000300648:K561N	ENSP00000300648:K561N	K	-	3	2	GCN1L1	119086838	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	2.241000	0.43097	1.004000	0.39156	0.533000	0.62120	AAA		0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
SIRT4	23409	broad.mit.edu	37	12	120750308	120750308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:120750308G>T	ENST00000202967.4	+	3	606	c.547G>T	c.(547-549)Gag>Tag	p.E183*	RNU6-1088P_ENST00000516850.1_RNA|SIRT4_ENST00000537892.1_Intron	NM_012240.2	NP_036372.1			sirtuin 4									p.E183*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGCTGCAAGAGCGTTTCCA	0.582																																					p.E183X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G547T	12						.						80.0	84.0	83.0					12																	120750308		2203	4300	6503	119234691	SO:0001587	stop_gained	23409	exon3			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.547G>T	12.37:g.120750308G>T	ENSP00000202967:p.Glu183*		119234691	NM_012240		Nonsense_Mutation	SNP	ENST00000202967.4	37	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615735	0.87359	.	.	ENSG00000089163	ENST00000202967	.	.	.	4.41	4.41	0.53225	.	0.695717	0.15027	N	0.284687	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-10.6308	17.9506	0.89052	0.0:0.0:1.0:0.0	.	.	.	.	X	183	.	ENSP00000202967:E183X	E	+	1	0	SIRT4	119234691	0.999000	0.42202	0.998000	0.56505	0.876000	0.50452	2.497000	0.45354	2.396000	0.81511	0.585000	0.79938	GAG		0.582	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1	NM_012240	
PLA2G1B	5319	broad.mit.edu	37	12	120765537	120765537	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:120765537G>A	ENST00000308366.4	-	1	55	c.20C>T	c.(19-21)gCt>gTt	p.A7V	PLA2G1B_ENST00000423423.3_Missense_Mutation_p.A7V|PLA2G1B_ENST00000549767.1_5'Flank	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	7					actin filament organization (GO:0007015)|activation of MAPK activity (GO:0000187)|activation of phospholipase A2 activity (GO:0032431)|antibacterial humoral response (GO:0019731)|arachidonic acid secretion (GO:0050482)|cellular response to insulin stimulus (GO:0032869)|defense response to Gram-positive bacterium (GO:0050830)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response in mucosa (GO:0002227)|interleukin-8 production (GO:0032637)|intracellular signal transduction (GO:0035556)|leukotriene biosynthetic process (GO:0019370)|multicellular organismal lipid catabolic process (GO:0044240)|neutrophil chemotaxis (GO:0030593)|neutrophil mediated immunity (GO:0002446)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine metabolic process (GO:0046470)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of immune response (GO:0050778)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	bile acid binding (GO:0032052)|calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|receptor binding (GO:0005102)	p.A7V(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				Niflumic Acid(DB04552)|Sulfasalazine(DB00795)	GAGCAGCACAGCTAGCACAAG	0.532																																					p.A7V	NSCLC(64;1781 1795 22266 42732)|Esophageal Squamous(30;459 829 25326 35148)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C20T	12						.						131.0	119.0	123.0					12																	120765537		2203	4300	6503	119249920	SO:0001583	missense	5319	exon1				CCDS9195.1	12q24.31	2013-09-19			ENSG00000170890	ENSG00000170890	3.1.1.4		9030	protein-coding gene	gene with protein product		172410		PLA2, PPLA2, PLA2A		8175726	Standard	NM_000928		Approved		uc001tyd.3	P04054	OTTHUMG00000169343	ENST00000308366.4:c.20C>T	12.37:g.120765537G>A	ENSP00000312286:p.Ala7Val		119249920	NM_000928	B2R4H5|Q3KPI1	Missense_Mutation	SNP	ENST00000308366.4	37	CCDS9195.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338203	0.60963	.	.	ENSG00000170890	ENST00000308366;ENST00000423423	T;T	0.63417	2.0;-0.04	4.7	4.7	0.59300	.	0.922936	0.09240	N	0.829362	T	0.68155	0.2970	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.64786	-0.6325	10	0.62326	D	0.03	-5.474	13.3158	0.60407	0.0:0.0:1.0:0.0	.	7;7	Q9BS22;P04054	.;PA21B_HUMAN	V	7	ENSP00000312286:A7V;ENSP00000413594:A7V	ENSP00000312286:A7V	A	-	2	0	PLA2G1B	119249920	0.991000	0.36638	1.000000	0.80357	0.320000	0.28249	1.562000	0.36353	2.615000	0.88500	0.591000	0.81541	GCT		0.532	PLA2G1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403626.1		
POP5	51367	broad.mit.edu	37	12	121017331	121017331	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:121017331T>G	ENST00000357500.4	-	4	418	c.383A>C	c.(382-384)aAc>aCc	p.N128T	POP5_ENST00000341039.2_Missense_Mutation_p.N78T|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	128					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)	p.N128T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					ATCAGTGCAGTTCTGCAACAA	0.438																																					p.N128T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A383C	12						.						214.0	180.0	191.0					12																	121017331		2203	4300	6503	119501714	SO:0001583	missense	51367	exon4			AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.383A>C	12.37:g.121017331T>G	ENSP00000350098:p.Asn128Thr		119501714	NM_015918	A6NL80|Q53FS5|Q9Y2Q6	Missense_Mutation	SNP	ENST00000357500.4	37	CCDS9202.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126905	0.56721	.	.	ENSG00000167272	ENST00000341039;ENST00000357500	.	.	.	5.3	5.3	0.74995	.	0.248699	0.47852	D	0.000216	T	0.57110	0.2031	L	0.58101	1.795	0.41246	D	0.986674	B;B	0.27559	0.181;0.087	B;B	0.24394	0.033;0.053	T	0.59473	-0.7448	9	0.54805	T	0.06	-18.5958	11.2643	0.49101	0.0:0.0738:0.0:0.9262	.	78;128	A6NL80;Q969H6	.;POP5_HUMAN	T	78;128	.	ENSP00000341791:N78T	N	-	2	0	POP5	119501714	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.758000	0.47565	1.999000	0.58509	0.533000	0.62120	AAC		0.438	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918	
POP5	51367	broad.mit.edu	37	12	121017397	121017397	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:121017397G>A	ENST00000357500.4	-	4	352	c.317C>T	c.(316-318)aCa>aTa	p.T106I	POP5_ENST00000341039.2_Missense_Mutation_p.T56I|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	106					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)	p.T106I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					TGTTCTTATTGTACCTGGCAT	0.458																																					p.T106I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C317T	12						.						192.0	171.0	178.0					12																	121017397		2203	4300	6503	119501780	SO:0001583	missense	51367	exon4			AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.317C>T	12.37:g.121017397G>A	ENSP00000350098:p.Thr106Ile		119501780	NM_015918	A6NL80|Q53FS5|Q9Y2Q6	Missense_Mutation	SNP	ENST00000357500.4	37	CCDS9202.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.800196	0.90538	.	.	ENSG00000167272	ENST00000341039;ENST00000357500	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.85758	0.5771	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.88693	0.3210	9	0.87932	D	0	-11.2371	18.9594	0.92671	0.0:0.0:1.0:0.0	.	56;106	A6NL80;Q969H6	.;POP5_HUMAN	I	56;106	.	ENSP00000341791:T56I	T	-	2	0	POP5	119501780	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.970000	0.76099	2.469000	0.83416	0.655000	0.94253	ACA		0.458	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918	
SPPL3	121665	broad.mit.edu	37	12	121205248	121205248	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:121205248G>A	ENST00000353487.2	-	9	1425	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	309						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)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)	p.R308C(1)				all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCTGCATGCGCCCGGAGATG	0.547																																					p.R308C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C922T	12						.						66.0	66.0	66.0					12																	121205248		2203	4300	6503	119689631	SO:0001583	missense	121665	exon9				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"""intramembrane protease 2"", ""presenilin-like protein 4"""	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.922C>T	12.37:g.121205248G>A	ENSP00000288680:p.Arg308Cys		119689631	NM_139015	Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	ENST00000353487.2	37	CCDS9208.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292478	0.95546	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.18657	2.2	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.76071	0.987;0.978	T	0.59172	-0.7504	10	0.56958	D	0.05	-28.3105	19.8968	0.96969	0.0:0.0:1.0:0.0	.	309;308	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	C	308;307	ENSP00000288680:R308C	ENSP00000288680:R308C	R	-	1	0	AC069214.1	119689631	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.363000	0.97131	2.691000	0.91804	0.655000	0.94253	CGC		0.547	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402980.2	NM_139015	
WDR66	144406	broad.mit.edu	37	12	122437815	122437815	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:122437815G>A	ENST00000288912.4	+	20	4054	c.3200G>A	c.(3199-3201)cGa>cAa	p.R1067Q		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1067							calcium ion binding (GO:0005509)	p.R1067Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAGGCCATTCGAAGAGAGGAC	0.473																																					p.R1067Q	Esophageal Squamous(85;849 1794 49757 52143)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3200A	12						.						100.0	94.0	96.0					12																	122437815		1907	4125	6032	120922198	SO:0001583	missense	144406	exon20			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3200G>A	12.37:g.122437815G>A	ENSP00000288912:p.Arg1067Gln		120922198	NM_144668	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	g	10.01	1.233709	0.22626	.	.	ENSG00000158023	ENST00000288912	T	0.79352	-1.26	5.31	-3.54	0.04653	.	1.588680	0.03305	N	0.189685	T	0.52435	0.1734	N	0.01705	-0.755	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46775	-0.9167	10	0.14252	T	0.57	.	12.7738	0.57436	0.683:0.0:0.317:0.0	.	1067	Q8TBY9	WDR66_HUMAN	Q	1067	ENSP00000288912:R1067Q	ENSP00000288912:R1067Q	R	+	2	0	WDR66	120922198	0.001000	0.12720	0.016000	0.15963	0.856000	0.48823	0.167000	0.16602	-0.560000	0.06102	-0.733000	0.03571	CGA		0.473	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
CLIP1	6249	broad.mit.edu	37	12	122862024	122862024	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:122862024T>G	ENST00000540338.1	-	2	610	c.569A>C	c.(568-570)aAa>aCa	p.K190T	CLIP1_ENST00000537178.1_Missense_Mutation_p.K190T|CLIP1_ENST00000302528.7_Missense_Mutation_p.K190T|CLIP1_ENST00000358808.2_Missense_Mutation_p.K190T|CLIP1_ENST00000361654.4_Missense_Mutation_p.K190T			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	190	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.K190T(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACTGGCAGTTTTTGTAAGGTT	0.488																																					p.K190T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A569C	12						.						173.0	159.0	164.0					12																	122862024		2203	4300	6503	121427977	SO:0001583	missense	6249	exon3				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.569A>C	12.37:g.122862024T>G	ENSP00000439093:p.Lys190Thr		121427977	NM_198240	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173307	0.78452	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (1);	0.102779	0.64402	D	0.000006	T	0.81327	0.4799	M	0.70595	2.14	0.38213	D	0.940549	P;B;B;B	0.45957	0.869;0.385;0.385;0.111	P;P;P;B	0.57502	0.822;0.673;0.673;0.137	D	0.84225	0.0463	10	0.59425	D	0.04	-26.7169	8.5237	0.33291	0.0:0.1434:0.0:0.8566	.	190;190;190;190	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	T	190;190;35;190;190;190;190	ENSP00000303585:K190T;ENSP00000351665:K190T;ENSP00000445531:K190T;ENSP00000439093:K190T;ENSP00000437786:K190T;ENSP00000441409:K190T	ENSP00000303585:K190T	K	-	2	0	CLIP1	121427977	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	3.000000	0.49481	2.217000	0.71921	0.482000	0.46254	AAA		0.488	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	
LRP6	4040	broad.mit.edu	37	12	12317235	12317235	+	Missense_Mutation	SNP	C	C	T	rs376188127		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:12317235C>T	ENST00000261349.4	-	9	2100	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R675Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	675	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R675Q(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAATAAATTCGGTTGTCTGT	0.358																																					p.R675Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2024A	12						.	C	GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	85.0	87.0	86.0		2024	5.4	1.0	12		86	0,8600		0,0,4300	no	missense	LRP6	NM_002336.2	43	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	675/1614	12317235	1,13003	2202	4300	6502	12208502	SO:0001583	missense	4040	exon9			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2024G>A	12.37:g.12317235C>T	ENSP00000261349:p.Arg675Gln		12208502	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132673	0.94517	2.27E-4	0.0	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96802	-4.13;-4.13	5.41	5.41	0.78517	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.50627	U	0.000115	D	0.97785	0.9273	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.941	D	0.96857	0.9629	10	0.31617	T	0.26	.	19.571	0.95419	0.0:1.0:0.0:0.0	.	675;675	F5H7J9;O75581	.;LRP6_HUMAN	Q	675	ENSP00000261349:R675Q;ENSP00000442472:R675Q	ENSP00000261349:R675Q	R	-	2	0	LRP6	12208502	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	6.013000	0.70776	2.709000	0.92574	0.655000	0.94253	CGA		0.358	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
KNTC1	9735	broad.mit.edu	37	12	123075271	123075271	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:123075271G>A	ENST00000333479.7	+	41	4294	c.4117G>A	c.(4117-4119)Gac>Aac	p.D1373N	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1373					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.D1373N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GCAGAATTACGACAAAATCTT	0.413																																					p.D1373N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4117A	12						.						126.0	116.0	119.0					12																	123075271		1859	4094	5953	121641224	SO:0001583	missense	9735	exon41				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4117G>A	12.37:g.123075271G>A	ENSP00000328236:p.Asp1373Asn		121641224	NM_014708	A7E2C4|B3KSG2	Missense_Mutation	SNP	ENST00000333479.7	37	CCDS45002.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947457	0.34377	.	.	ENSG00000184445	ENST00000333479	T	0.14391	2.51	5.6	3.28	0.37604	.	0.352180	0.34555	N	0.003865	T	0.07188	0.0182	L	0.29908	0.895	0.80722	D	1	B	0.19935	0.04	B	0.09377	0.004	T	0.32981	-0.9886	10	0.18710	T	0.47	-21.0391	2.7058	0.05162	0.2624:0.2852:0.4525:0.0	.	1373	P50748	KNTC1_HUMAN	N	1373	ENSP00000328236:D1373N	ENSP00000328236:D1373N	D	+	1	0	KNTC1	121641224	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.176000	0.50863	2.650000	0.89964	0.585000	0.79938	GAC		0.413	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396110.2		
LRP6	4040	broad.mit.edu	37	12	12397338	12397338	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:12397338C>A	ENST00000261349.4	-	2	383	c.307G>T	c.(307-309)Gat>Tat	p.D103Y	LRP6_ENST00000543091.1_Missense_Mutation_p.D103Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	103	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D103Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCAAGCCAATCACATGCCAGC	0.378																																					p.D103Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G307T	12						.						94.0	90.0	91.0					12																	12397338		2203	4300	6503	12288605	SO:0001583	missense	4040	exon2			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.307G>T	12.37:g.12397338C>A	ENSP00000261349:p.Asp103Tyr		12288605	NM_002336	Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314998	0.81358	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.94723	-3.5;-3.5	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.53938	U	0.000053	D	0.98121	0.9380	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99150	1.0858	10	0.87932	D	0	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	103;103	F5H7J9;O75581	.;LRP6_HUMAN	Y	103	ENSP00000261349:D103Y;ENSP00000442472:D103Y	ENSP00000261349:D103Y	D	-	1	0	LRP6	12288605	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	2.627000	0.88993	0.460000	0.39030	GAT		0.378	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1		
DNAH10	196385	broad.mit.edu	37	12	124274522	124274522	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:124274522A>G	ENST00000409039.3	+	11	1511	c.1486A>G	c.(1486-1488)Acg>Gcg	p.T496A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	496	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T314A(1)|p.T496A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAGGCAGTGACGGGGGACCC	0.468																																					p.T496A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1486G	12						.						136.0	132.0	134.0					12																	124274522		2203	4300	6503	122840475	SO:0001583	missense	196385	exon11			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1486A>G	12.37:g.124274522A>G	ENSP00000386770:p.Thr496Ala		122840475	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289548	0.80914	.	.	ENSG00000197653	ENST00000409039	T	0.56275	0.47	5.2	5.2	0.72013	Dynein heavy chain, domain-1 (1);	0.518172	0.14936	N	0.289805	T	0.73737	0.3625	M	0.88241	2.94	0.46586	D	0.999118	D	0.76494	0.999	D	0.72625	0.978	T	0.72574	-0.4252	10	0.12766	T	0.61	.	13.6637	0.62382	1.0:0.0:0.0:0.0	.	496	Q8IVF4	DYH10_HUMAN	A	496	ENSP00000386770:T496A	ENSP00000386770:T496A	T	+	1	0	DNAH10	122840475	1.000000	0.71417	0.988000	0.46212	0.823000	0.46562	7.412000	0.80091	1.979000	0.57680	0.454000	0.30748	ACG		0.468	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
CCDC92	80212	broad.mit.edu	37	12	124421929	124421929	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:124421929G>A	ENST00000238156.3	-	5	1026	c.672C>T	c.(670-672)ttC>ttT	p.F224F	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA|CCDC92_ENST00000545135.1_Silent_p.F207F|CCDC92_ENST00000545891.1_Silent_p.F207F	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	224						centriole (GO:0005814)		p.F224F(1)		large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCTCTGCCCCGAATCTGTAGA	0.602																																					p.F224F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C672T	12						.						49.0	56.0	54.0					12																	124421929		2203	4300	6503	122987882	SO:0001819	synonymous_variant	80212	exon5			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.672C>T	12.37:g.124421929G>A			122987882	NM_025140	B3KNQ0|Q9H697	Silent	SNP	ENST00000238156.3	37	CCDS9256.1																																																																																				0.602	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140	
TMEM132B	114795	broad.mit.edu	37	12	126128671	126128671	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:126128671G>A	ENST00000299308.3	+	6	1480	c.1472G>A	c.(1471-1473)aGc>aAc	p.S491N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S3N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	491						integral component of membrane (GO:0016021)		p.S491N(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAAATGAAGAGCAAAGTGGAC	0.493																																					p.S491N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1472A	12						.						103.0	101.0	102.0					12																	126128671		2005	4169	6174	124694624	SO:0001583	missense	114795	exon6			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1472G>A	12.37:g.126128671G>A	ENSP00000299308:p.Ser491Asn		124694624	NM_052907	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814760	0.70912	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.42131	0.98;0.98	5.52	5.52	0.82312	.	0.060742	0.64402	D	0.000002	T	0.43166	0.1235	L	0.43923	1.385	0.53005	D	0.999966	P	0.38504	0.634	B	0.39379	0.298	T	0.44128	-0.9348	10	0.87932	D	0	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	491	Q14DG7	T132B_HUMAN	N	491;3	ENSP00000299308:S491N;ENSP00000440436:S3N	ENSP00000299308:S491N	S	+	2	0	TMEM132B	124694624	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	9.449000	0.97603	2.578000	0.87016	0.655000	0.94253	AGC		0.493	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
TMEM132D	121256	broad.mit.edu	37	12	129558692	129558692	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:129558692T>G	ENST00000422113.2	-	9	3354	c.3028A>C	c.(3028-3030)Aaa>Caa	p.K1010Q	TMEM132D_ENST00000389441.4_Missense_Mutation_p.K548Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1010					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.K1010Q(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGATGCTTTTTTGGGAGTTT	0.458																																					p.K1010Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3028C	12						.						102.0	98.0	99.0					12																	129558692		2203	4300	6503	128124645	SO:0001583	missense	121256	exon9			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3028A>C	12.37:g.129558692T>G	ENSP00000408581:p.Lys1010Gln		128124645	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	T	9.238	1.037604	0.19669	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.10288	2.89;3.69	4.14	1.55	0.23275	.	1.049750	0.07524	N	0.911028	T	0.10981	0.0268	L	0.41710	1.295	0.09310	N	0.999992	B;B	0.15473	0.013;0.001	B;B	0.15052	0.012;0.003	T	0.41360	-0.9513	9	.	.	.	-2.8726	11.7203	0.51678	0.0:0.0:0.4276:0.5724	.	1010;548	Q14C87;Q14C87-2	T132D_HUMAN;.	Q	548;1010	ENSP00000374092:K548Q;ENSP00000408581:K1010Q	.	K	-	1	0	TMEM132D	128124645	0.267000	0.24122	0.001000	0.08648	0.873000	0.50193	1.393000	0.34497	0.077000	0.16863	0.338000	0.21704	AAA		0.458	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
TMEM132D	121256	broad.mit.edu	37	12	129558977	129558977	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:129558977C>T	ENST00000422113.2	-	9	3069	c.2743G>A	c.(2743-2745)Gac>Aac	p.D915N	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D453N	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	915					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.D915N(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATTTCTAAGTCGCTCAGCCCT	0.488																																					p.D915N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2743A	12						.						133.0	115.0	121.0					12																	129558977		2203	4300	6503	128124930	SO:0001583	missense	121256	exon9			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2743G>A	12.37:g.129558977C>T	ENSP00000408581:p.Asp915Asn		128124930	NM_133448	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443766	0.63067	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.25912	1.77;1.77	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000003	T	0.58018	0.2093	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68530	-0.5384	9	.	.	.	-36.0019	16.905	0.86124	0.0:1.0:0.0:0.0	.	915;453	Q14C87;Q14C87-2	T132D_HUMAN;.	N	453;915	ENSP00000374092:D453N;ENSP00000408581:D915N	.	D	-	1	0	TMEM132D	128124930	1.000000	0.71417	0.359000	0.25824	0.148000	0.21650	7.539000	0.82063	2.038000	0.60285	0.467000	0.42956	GAC		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
RIMBP2	23504	broad.mit.edu	37	12	130898681	130898681	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:130898681G>T	ENST00000261655.4	-	14	2804	c.2641C>A	c.(2641-2643)Cag>Aag	p.Q881K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	881	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q881K(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTGATGATCTGGCCTTCTTTA	0.607																																					p.Q881K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2641A	12						.						90.0	91.0	91.0					12																	130898681		2203	4300	6503	129464634	SO:0001583	missense	23504	exon14			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2641C>A	12.37:g.130898681G>T	ENSP00000261655:p.Gln881Lys		129464634	NM_015347	Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413626	0.83449	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.09911	2.93;2.93	4.37	4.37	0.52481	Src homology-3 domain (4);Variant SH3 (1);	0.075107	0.56097	D	0.000028	T	0.37865	0.1019	M	0.85777	2.775	0.80722	D	1	D	0.56287	0.975	D	0.72075	0.976	T	0.38929	-0.9638	10	0.49607	T	0.09	-22.8782	17.2835	0.87135	0.0:0.0:1.0:0.0	.	881	O15034	RIMB2_HUMAN	K	881;18	ENSP00000261655:Q881K;ENSP00000439030:Q18K	ENSP00000261655:Q881K	Q	-	1	0	RIMBP2	129464634	1.000000	0.71417	0.962000	0.40283	0.692000	0.40212	9.708000	0.98727	2.117000	0.64856	0.650000	0.86243	CAG		0.607	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
GPR133	283383	broad.mit.edu	37	12	131561402	131561402	+	Silent	SNP	C	C	T	rs149379586	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:131561402C>T	ENST00000261654.5	+	14	2089	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	GPR133_ENST00000543617.1_Silent_p.C29C|GPR133_ENST00000376682.4_Silent_p.C196C|GPR133_ENST00000535015.1_Silent_p.C542C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	510	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C510C(2)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCGTGTACTGCGCCTTCCTGG	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		20138	0.0		0.0	False		,,,				2504	0.002				p.C510C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1530T	12						.	C		4,4402	8.1+/-20.4	0,4,2199	188.0	147.0	161.0		1530	-4.8	1.0	12	dbSNP_134	161	0,8600		0,0,4300	no	coding-synonymous	GPR133	NM_198827.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		510/875	131561402	4,13002	2203	4300	6503	130127355	SO:0001819	synonymous_variant	283383	exon14			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1530C>T	12.37:g.131561402C>T			130127355	NM_198827	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	2.879	-0.232324	0.05983	9.08E-4	0.0	ENSG00000111452	ENST00000335486	.	.	.	3.78	-4.79	0.03200	.	.	.	.	.	T	0.54287	0.1849	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55611	-0.8114	4	.	.	.	.	11.3024	0.49314	0.0:0.2362:0.0:0.7638	.	.	.	.	V	32	.	.	A	+	2	0	GPR133	130127355	0.156000	0.22821	0.969000	0.41365	0.283000	0.27025	-0.961000	0.03845	-0.846000	0.04174	-1.471000	0.01009	GCG		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
KIAA1467	57613	broad.mit.edu	37	12	13232899	13232899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:13232899C>T	ENST00000197268.8	+	12	1939	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	607						integral component of membrane (GO:0016021)		p.R607*(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGGGGAGCTGCGAAGATTTCT	0.507																																					p.R607X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1819T	12						.						45.0	49.0	48.0					12																	13232899		2203	4300	6503	13124166	SO:0001587	stop_gained	57613	exon12			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1819C>T	12.37:g.13232899C>T	ENSP00000197268:p.Arg607*		13124166	NM_020853	Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Nonsense_Mutation	SNP	ENST00000197268.8	37	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	C	38	7.240231	0.98157	.	.	ENSG00000084444	ENST00000197268	.	.	.	5.43	4.47	0.54385	.	0.240662	0.40818	N	0.001002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5256	10.4257	0.44375	0.3345:0.6655:0.0:0.0	.	.	.	.	X	607	.	ENSP00000197268:R607X	R	+	1	2	KIAA1467	13124166	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.593000	0.46180	2.540000	0.85666	0.650000	0.86243	CGA		0.507	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
EP400	57634	broad.mit.edu	37	12	132547064	132547064	+	Missense_Mutation	SNP	C	C	A	rs151183932		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:132547064C>A	ENST00000333577.4	+	48	8369	c.8260C>A	c.(8260-8262)Ctc>Atc	p.L2754I	EP400_ENST00000389561.2_Missense_Mutation_p.L2718I|EP400_ENST00000389562.2_Missense_Mutation_p.L2717I|EP400_ENST00000332482.4_Missense_Mutation_p.L2681I|EP400_ENST00000330386.6_Missense_Mutation_p.L2637I			Q96L91	EP400_HUMAN	E1A binding protein p400	2754	Interaction with ZNF42. {ECO:0000250}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L2717I(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTTCCAGCTTCTCAGgcagca	0.567																																					p.L2717I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8149A	12						.						53.0	53.0	53.0					12																	132547064		2203	4300	6503	131113017	SO:0001583	missense	57634	exon47			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8260C>A	12.37:g.132547064C>A	ENSP00000333602:p.Leu2754Ile		131113017	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	12.05	1.820529	0.32145	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90444	-2.66;-2.66;-2.67;-2.67;-2.67	4.89	4.89	0.63831	.	0.105055	0.42682	D	0.000678	D	0.92074	0.7488	L	0.32530	0.975	0.31919	N	0.613725	D;D;D	0.64830	0.994;0.994;0.99	D;D;D	0.72982	0.979;0.979;0.979	D	0.91182	0.4977	10	0.30078	T	0.28	.	17.0403	0.86487	0.0:1.0:0.0:0.0	.	2718;2637;2717	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	I	2754;2718;2717;2681;2637;2718	ENSP00000333602:L2754I;ENSP00000374212:L2718I;ENSP00000374213:L2717I;ENSP00000331737:L2681I;ENSP00000330620:L2637I	ENSP00000330620:L2637I	L	+	1	0	EP400	131113017	0.990000	0.36364	0.161000	0.22692	0.294000	0.27393	3.241000	0.51376	2.236000	0.73375	0.561000	0.74099	CTC		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
POLE	5426	broad.mit.edu	37	12	133226295	133226295	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:133226295A>C	ENST00000320574.5	-	30	3806	c.3763T>G	c.(3763-3765)Ttg>Gtg	p.L1255V	POLE_ENST00000535270.1_Missense_Mutation_p.L1228V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1255			L -> V (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.L1255V(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGCTGCCCCAAGATTTCCTGC	0.627								DNA polymerases (catalytic subunits)																													p.L1255V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3763G	12						.						117.0	117.0	117.0					12																	133226295		2203	4300	6503	131736368	SO:0001583	missense	5426	exon30				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3763T>G	12.37:g.133226295A>C	ENSP00000322570:p.Leu1255Val		131736368	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099672	0.56183	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000503265	T;T;T;T	0.15256	4.09;4.09;4.1;2.44	5.9	-3.56	0.04626	.	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	M	0.87758	2.905	0.50039	D	0.99984	B;P	0.42483	0.34;0.781	B;B	0.37387	0.236;0.248	T	0.41645	-0.9497	10	0.48119	T	0.1	.	14.4328	0.67261	0.4106:0.0:0.5894:0.0	.	1228;1255	F5H1D6;Q07864	.;DPOE1_HUMAN	V	1255;1266;1228;1035;232;59	ENSP00000322570:L1255V;ENSP00000406383:L1266V;ENSP00000445753:L1228V;ENSP00000442519:L1035V	ENSP00000322570:L1255V	L	-	1	2	POLE	131736368	1.000000	0.71417	0.037000	0.18230	0.190000	0.23558	2.381000	0.44336	-0.645000	0.05458	0.454000	0.30748	TTG		0.627	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
POLE	5426	broad.mit.edu	37	12	133250289	133250289	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:133250289C>A	ENST00000320574.5	-	13	1274	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	POLE_ENST00000535270.1_Missense_Mutation_p.V384L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	411			V -> L (found in a colorectal sample; somatic mutation). {ECO:0000269|PubMed:23263490}.		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.V411L(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TCCCTCTTCACCCACCTGGAA	0.557								DNA polymerases (catalytic subunits)																													p.V411L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1231T	12						.						139.0	130.0	133.0					12																	133250289		2203	4300	6503	131760362	SO:0001583	missense	5426	exon13				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1231G>T	12.37:g.133250289C>A	ENSP00000322570:p.Val411Leu		131760362	NM_006231	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861043	0.91433	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	5.63	5.63	0.86233	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57505	-0.7800	10	0.87932	D	0	.	19.6756	0.95930	0.0:1.0:0.0:0.0	.	384;411	F5H1D6;Q07864	.;DPOE1_HUMAN	L	411;422;384;191;346;29	ENSP00000322570:V411L;ENSP00000406383:V422L;ENSP00000445753:V384L;ENSP00000442519:V191L;ENSP00000443213:V29L	ENSP00000322570:V411L	V	-	1	0	POLE	131760362	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	7.736000	0.84948	2.664000	0.90586	0.313000	0.20887	GTG		0.557	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	
ANKLE2	23141	broad.mit.edu	37	12	133331468	133331468	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:133331468G>T	ENST00000357997.5	-	2	522	c.433C>A	c.(433-435)Cca>Aca	p.P145T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.P145T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.P83T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	145					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.P145T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGATCAGTTGGGTTCCCTTCA	0.522																																					p.P145T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C433A	12						.						64.0	66.0	65.0					12																	133331468		1916	4130	6046	131841541	SO:0001583	missense	23141	exon2			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.433C>A	12.37:g.133331468G>T	ENSP00000350686:p.Pro145Thr		131841541	NM_015114	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	G	5.631	0.301071	0.10678	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.28895	2.01;2.0;1.59	5.41	2.52	0.30459	.	1.612920	0.02778	N	0.120549	T	0.24624	0.0597	L	0.47716	1.5	0.09310	N	1	P;P	0.38195	0.622;0.488	B;B	0.27076	0.076;0.07	T	0.21075	-1.0256	10	0.21540	T	0.41	0.3553	7.0345	0.24985	0.1455:0.307:0.5475:0.0	.	145;145	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	83;145;145	ENSP00000446268:P83T;ENSP00000350686:P145T;ENSP00000337651:P145T	ENSP00000337651:P145T	P	-	1	0	ANKLE2	131841541	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.332000	0.19751	0.238000	0.21222	-0.182000	0.12963	CCA		0.522	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1		
KDM5A	5927	broad.mit.edu	37	12	406291	406291	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:406291C>T	ENST00000399788.2	-	25	4512	c.4150G>A	c.(4150-4152)Gag>Aag	p.E1384K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E1384K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1384					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1384K(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ACCACCTCCTCGGATTTGATG	0.418			T	NUP98	AML																																p.E1384K			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4150A	12						.						64.0	64.0	64.0					12																	406291		1885	4107	5992	276552	SO:0001583	missense	5927	exon25				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4150G>A	12.37:g.406291C>T	ENSP00000382688:p.Glu1384Lys		276552	NM_001042603	A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459767	0.84317	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85629	-2.01;-1.82	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.88108	0.6348	N	0.22421	0.69	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.76575	0.972;0.988	D	0.88746	0.3247	10	0.52906	T	0.07	-19.979	19.7243	0.96157	0.0:1.0:0.0:0.0	.	1384;1384	P29375;P29375-2	KDM5A_HUMAN;.	K	1384	ENSP00000382688:E1384K;ENSP00000372265:E1384K	ENSP00000372265:E1384K	E	-	1	0	KDM5A	276552	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.462000	0.80851	2.647000	0.89833	0.655000	0.94253	GAG		0.418	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
WNK1	65125	broad.mit.edu	37	12	1009816	1009816	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:1009816G>A	ENST00000315939.6	+	26	7266	c.6623G>A	c.(6622-6624)aGc>aAc	p.S2208N	WNK1_ENST00000537687.1_Missense_Mutation_p.S2468N|WNK1_ENST00000340908.4_Missense_Mutation_p.S1801N|WNK1_ENST00000530271.2_Missense_Mutation_p.S2706N|WNK1_ENST00000535572.1_Missense_Mutation_p.S1960N	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2208					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.S2208N(1)|p.S2468N(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCAGTACCAAGCCTTTCTGCT	0.488																																					p.S2468N	Colon(19;451 567 6672 12618 28860)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7403A	12						.						235.0	220.0	225.0					12																	1009816		2203	4300	6503	880077	SO:0001583	missense	65125	exon26			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6623G>A	12.37:g.1009816G>A	ENSP00000313059:p.Ser2208Asn		880077	NM_001184985	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216956	0.79352	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908;ENST00000543065	T;T;T;T;T	0.78481	-1.15;-1.1;-1.09;-1.18;0.09	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	D	0.84615	0.5511	L	0.44542	1.39	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	D	0.84132	0.0412	10	0.46703	T	0.11	-9.8751	18.8556	0.92251	0.0:0.0:1.0:0.0	.	1961;1960;2208	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	N	1960;2208;2468;1381;2706;150;1801;18	ENSP00000441972:S1960N;ENSP00000313059:S2208N;ENSP00000444465:S2468N;ENSP00000433548:S2706N;ENSP00000341292:S1801N	ENSP00000252477:S1381N	S	+	2	0	WNK1	880077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.203000	0.95033	2.688000	0.91661	0.563000	0.77884	AGC		0.488	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
CACNA1C	775	broad.mit.edu	37	12	2692013	2692013	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:2692013C>T	ENST00000347598.4	+	15	2129	c.2129C>T	c.(2128-2130)tCg>tTg	p.S710L	CACNA1C_ENST00000399644.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S710L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S710L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S710L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S710L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S735L|CACNA1C_ENST00000399655.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S710L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S710L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	710					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S740L(1)|p.S710L(1)|p.S245L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GACTGGAATTCGGTGATGTAT	0.498																																					p.S710L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2129T	12						.						133.0	147.0	142.0					12																	2692013		2096	4250	6346	2562274	SO:0001583	missense	775	exon15			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2129C>T	12.37:g.2692013C>T	ENSP00000266376:p.Ser710Leu		2562274	NM_001129842	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100943	0.94245	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	5.09	5.09	0.68999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	L	0.46670	1.46	0.80722	D	1	D;D;D;D;D;D;D;D;P;D;D;P;D;D;D;D;P;D;P;D;D;D;D;D;D	0.89917	1.0;0.999;0.958;0.999;1.0;0.999;1.0;0.976;0.884;1.0;0.999;0.614;0.999;0.999;1.0;0.999;0.954;1.0;0.954;0.999;1.0;1.0;0.998;0.997;0.999	D;D;P;D;D;D;D;P;B;D;D;B;D;D;D;D;B;D;B;D;D;D;P;D;D	0.85130	0.988;0.99;0.557;0.988;0.996;0.99;0.996;0.526;0.422;0.996;0.99;0.228;0.996;0.994;0.997;0.975;0.325;0.996;0.325;0.975;0.996;0.996;0.856;0.964;0.99	D	0.98657	1.0682	10	0.72032	D	0.01	.	18.6763	0.91529	0.0:1.0:0.0:0.0	.	710;707;710;710;710;710;710;710;710;710;710;681;710;710;710;710;710;710;710;710;710;710;710;710;710	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	735;710;710;710;710;710;710;710;710;710;710;710;710;710;710;710;710;710;710;710;710;710;710;551	ENSP00000336982:S735L;ENSP00000382563:S710L;ENSP00000437936:S710L;ENSP00000382552:S710L;ENSP00000382547:S710L;ENSP00000382506:S710L;ENSP00000382530:S710L;ENSP00000382546:S710L;ENSP00000382500:S710L;ENSP00000382549:S710L;ENSP00000266376:S710L;ENSP00000382515:S710L;ENSP00000382510:S710L;ENSP00000341092:S710L;ENSP00000382537:S710L;ENSP00000329877:S710L;ENSP00000382557:S710L;ENSP00000385724:S710L;ENSP00000382512:S710L;ENSP00000382542:S710L;ENSP00000382526:S710L;ENSP00000385896:S710L;ENSP00000382504:S710L	ENSP00000323129:S551L	S	+	2	0	CACNA1C	2562274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.863000	0.69568	2.651000	0.90000	0.561000	0.74099	TCG		0.498	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
CACNA1C	775	broad.mit.edu	37	12	2695044	2695044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:2695044G>A	ENST00000347598.4	+	18	2504	c.2504G>A	c.(2503-2505)aGc>aAc	p.S835N	CACNA1C_ENST00000399644.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S835N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S835N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S835N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S835N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S860N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S835N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S835N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	835					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S835N(1)|p.S865N(1)|p.S370N(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGGATAAGAGCCCCTACCCC	0.498																																					p.S835N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2504A	12						.						89.0	89.0	89.0					12																	2695044		1860	4099	5959	2565305	SO:0001583	missense	775	exon18			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2504G>A	12.37:g.2695044G>A	ENSP00000266376:p.Ser835Asn		2565305	NM_001129842	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038236	0.35989	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96073	-3.82;-3.83;-3.88;-3.82;-3.8;-3.82;-3.85;-3.74;-3.79;-3.83;-3.75;-3.76;-3.83;-3.88;-3.75;-3.68;-3.9;-3.85;-3.83;-3.86;-3.77;-3.85;-3.9	5.68	3.74	0.42951	.	0.117879	0.38897	N	0.001521	D	0.89522	0.6739	N	0.16790	0.44	0.27247	N	0.958985	P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36282	0.546;0.001;0.0;0.0;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.002;0.0;0.0;0.0;0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001;0.0;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32583	0.148;0.001;0.001;0.001;0.004;0.002;0.001;0.002;0.001;0.001;0.002;0.001;0.003;0.002;0.0;0.001;0.003;0.001;0.002;0.001;0.001;0.002;0.002;0.001;0.0;0.001	D	0.83595	0.0125	10	0.40728	T	0.16	.	14.5117	0.67791	0.0:0.41:0.59:0.0	.	835;832;835;835;835;835;835;835;835;835;835;835;806;835;835;835;835;835;835;835;835;835;835;835;835;835	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	860;835;835;835;835;835;835;835;835;835;835;835;835;835;835;835;835;835;835;835;835;835;835;676	ENSP00000336982:S860N;ENSP00000382563:S835N;ENSP00000437936:S835N;ENSP00000382552:S835N;ENSP00000382547:S835N;ENSP00000382506:S835N;ENSP00000382530:S835N;ENSP00000382546:S835N;ENSP00000382500:S835N;ENSP00000382549:S835N;ENSP00000266376:S835N;ENSP00000382515:S835N;ENSP00000382510:S835N;ENSP00000341092:S835N;ENSP00000382537:S835N;ENSP00000329877:S835N;ENSP00000382557:S835N;ENSP00000385724:S835N;ENSP00000382512:S835N;ENSP00000382542:S835N;ENSP00000382526:S835N;ENSP00000385896:S835N;ENSP00000382504:S835N	ENSP00000323129:S676N	S	+	2	0	CACNA1C	2565305	0.988000	0.35896	0.993000	0.49108	0.991000	0.79684	1.743000	0.38258	1.394000	0.46624	0.655000	0.94253	AGC		0.498	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
CACNA1C	775	broad.mit.edu	37	12	2706656	2706656	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:2706656C>A	ENST00000347598.4	+	22	2907	c.2907C>A	c.(2905-2907)atC>atA	p.I969I	CACNA1C_ENST00000399644.1_Silent_p.I949I|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399629.1_Silent_p.I949I|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399637.1_Silent_p.I949I|CACNA1C_ENST00000480911.1_Silent_p.I949I|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399601.1_Silent_p.I949I|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000327702.7_Silent_p.I949I|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399606.1_Silent_p.I969I|CACNA1C_ENST00000399641.1_Silent_p.I949I|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399591.1_Silent_p.I949I|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399621.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	969					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I999I(1)|p.I484I(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGAAATTATCCTTAAGGTAA	0.403																																					p.I949I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2847A	12						.						71.0	67.0	68.0					12																	2706656		1568	3581	5149	2576917	SO:0001819	synonymous_variant	775	exon21			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2907C>A	12.37:g.2706656C>A			2576917	NM_001129835	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.403	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
FGF6	2251	broad.mit.edu	37	12	4553376	4553376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:4553376G>A	ENST00000228837.2	-	2	416	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	125					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.R125*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ACCACGCCTCGCTCCACAGTG	0.537																																					p.R125X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C373T	12						.						78.0	65.0	70.0					12																	4553376		2203	4300	6503	4423637	SO:0001587	stop_gained	2251	exon2			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.373C>T	12.37:g.4553376G>A	ENSP00000228837:p.Arg125*		4423637	NM_020996	Q0VAE1	Nonsense_Mutation	SNP	ENST00000228837.2	37	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	G	37	6.121341	0.97300	.	.	ENSG00000111241	ENST00000543077;ENST00000228837	.	.	.	5.63	4.73	0.59995	.	0.049913	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	14.5806	0.68288	0.0:0.0:0.721:0.279	.	.	.	.	X	4;125	.	ENSP00000228837:R125X	R	-	1	2	FGF6	4423637	0.980000	0.34600	0.998000	0.56505	0.777000	0.43975	1.330000	0.33781	1.374000	0.46228	-0.310000	0.09108	CGA		0.537	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996	
RAD51AP1	10635	broad.mit.edu	37	12	4665608	4665608	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:4665608A>G	ENST00000352618.4	+	8	861	c.811A>G	c.(811-813)Aaa>Gaa	p.K271E	RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K288E|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K153E	NM_006479.4	NP_006470.1			RAD51 associated protein 1									p.K271E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TACCACTAGGAAACCATTAGA	0.433																																					p.K271E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A811G	12						.						89.0	86.0	87.0					12																	4665608		2203	4300	6503	4535869	SO:0001583	missense	10635	exon8			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.811A>G	12.37:g.4665608A>G	ENSP00000309479:p.Lys271Glu		4535869	NM_006479		Missense_Mutation	SNP	ENST00000352618.4	37	CCDS8529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.968089|3.968089	0.74131|0.74131	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000536117|ENST00000543041;ENST00000228843;ENST00000352618	.|T;T;T	.|0.47528	.|1.21;0.84;0.84	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	.|0.660601	.|0.14967	.|N	.|0.288045	T|T	0.60741|0.60741	0.2292|0.2292	M|M	0.68952|0.68952	2.095|2.095	0.39088|0.39088	D|D	0.961034|0.961034	.|D;P;D;D	.|0.59767	.|0.986;0.93;0.974;0.971	.|P;P;P;P	.|0.59221	.|0.737;0.71;0.854;0.783	T|T	0.65071|0.65071	-0.6257|-0.6257	5|10	.|0.72032	.|D	.|0.01	-8.2326|-8.2326	10.1523|10.1523	0.42801|0.42801	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|153;288;288;271	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	G|E	239|153;288;271	.|ENSP00000439960:K153E;ENSP00000228843:K288E;ENSP00000309479:K271E	.|ENSP00000228843:K288E	E|K	+|+	2|1	0|0	RAD51AP1|RAD51AP1	4535869|4535869	0.984000|0.984000	0.35163|0.35163	0.965000|0.965000	0.40720|0.40720	0.875000|0.875000	0.50365|0.50365	2.391000|2.391000	0.44424|0.44424	1.898000|1.898000	0.54952|0.54952	0.482000|0.482000	0.46254|0.46254	GAA|AAA		0.433	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479	
NTF3	4908	broad.mit.edu	37	12	5603410	5603410	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:5603410C>T	ENST00000331010.6	+	1	113	c.30C>T	c.(28-30)ctC>ctT	p.L10L	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Silent_p.L23L	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	10					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)	p.L10L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						TGATATTTCTCGCTTATCTCC	0.433																																					p.L23L	GBM(194;1104 2182 8339 9578 18493)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C69T	12						.						115.0	110.0	112.0					12																	5603410		2203	4300	6503	5473671	SO:0001819	synonymous_variant	4908	exon2				CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.30C>T	12.37:g.5603410C>T			5473671	NM_001102654	B7Z1T5|Q6FH50	Silent	SNP	ENST00000331010.6	37	CCDS8538.1																																																																																				0.433	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1		
ANO2	57101	broad.mit.edu	37	12	5722088	5722088	+	Silent	SNP	G	G	A	rs367647989		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:5722088G>A	ENST00000356134.5	-	20	2039	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	ANO2_ENST00000327087.8_Silent_p.F655F|ANO2_ENST00000546188.1_Silent_p.F656F	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	660					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.F656F(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTAACCATCGAATACATAGA	0.517																																					p.F655F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1965T	12						.	G		0,4074		0,0,2037	121.0	125.0	124.0		1965	-7.6	0.5	12		124	1,8391		0,1,4195	no	coding-synonymous	ANO2	NM_020373.2		0,1,6232	AA,AG,GG		0.0119,0.0,0.0080		655/999	5722088	1,12465	2037	4196	6233	5592349	SO:0001819	synonymous_variant	57101	exon19			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1968C>T	12.37:g.5722088G>A			5592349	NM_020373	C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37																																																																																					0.517	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
VWF	7450	broad.mit.edu	37	12	6219717	6219717	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:6219717A>G	ENST00000261405.5	-	5	609	c.355T>C	c.(355-357)Tat>Cat	p.Y119H	VWF_ENST00000572068.1_Missense_Mutation_p.Y156H	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	119	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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)	p.Y119H(1)		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)	GTTTCTAGATACAGCCCTTTG	0.527																																					p.Y119H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T355C	12						.						91.0	96.0	94.0					12																	6219717		2203	4300	6503	6089978	SO:0001583	missense	7450	exon5				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.355T>C	12.37:g.6219717A>G	ENSP00000261405:p.Tyr119His		6089978	NM_000552	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	13.27	2.186814	0.38609	.	.	ENSG00000110799	ENST00000261405	T	0.59083	0.29	5.9	3.6	0.41247	von Willebrand factor, type D domain (3);	0.000000	0.39020	N	0.001482	T	0.58623	0.2135	L	0.45228	1.405	0.26059	N	0.981372	B;B;P	0.48350	0.02;0.03;0.909	B;B;P	0.54759	0.029;0.058;0.76	T	0.48758	-0.9007	10	0.34782	T	0.22	.	10.1389	0.42723	0.8797:0.0:0.1203:0.0	.	119;156;119	B4DNX0;Q8TCE8;P04275	.;.;VWF_HUMAN	H	119	ENSP00000261405:Y119H	ENSP00000261405:Y119H	Y	-	1	0	VWF	6089978	1.000000	0.71417	0.951000	0.38953	0.905000	0.53344	3.626000	0.54245	2.263000	0.75096	0.533000	0.62120	TAT		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
NOP2	4839	broad.mit.edu	37	12	6669353	6669353	+	Missense_Mutation	SNP	C	C	T	rs367594016		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:6669353C>T	ENST00000322166.5	-	15	1821	c.1700G>A	c.(1699-1701)cGa>cAa	p.R567Q	NOP2_ENST00000537442.1_Missense_Mutation_p.R567Q|NOP2_ENST00000541778.1_Missense_Mutation_p.R563Q|NOP2_ENST00000382421.3_Missense_Mutation_p.R600Q|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000545200.1_Missense_Mutation_p.R563Q|NOP2_ENST00000399466.2_Missense_Mutation_p.R563Q	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	567					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GTAGAAGCGTCGGGTAGAACG	0.502																																					p.R563Q												.	.	0			c.G1688A	12						.	C	GLN/ARG,GLN/ARG	0,3808		0,0,1904	87.0	89.0	88.0		1688,1688	4.9	1.0	12		88	1,8263		0,1,4131	no	missense,missense	NOP2	NM_001033714.1,NM_006170.2	43,43	0,1,6035	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging	563/809,563/809	6669353	1,12071	1904	4132	6036	6539614	SO:0001583	missense	4839	exon15				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1700G>A	12.37:g.6669353C>T	ENSP00000313272:p.Arg567Gln		6539614	NM_006170	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823396	0.90873	0.0	1.21E-4	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	4.95	4.95	0.65309	.	0.114674	0.64402	D	0.000008	T	0.55862	0.1947	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.979;0.984	T	0.62421	-0.6858	10	0.72032	D	0.01	-17.0173	18.3836	0.90459	0.0:1.0:0.0:0.0	.	563;563	Q05BA7;P46087-2	.;.	Q	567;600;563;563;567;563	ENSP00000444437:R567Q;ENSP00000371858:R600Q;ENSP00000439422:R563Q;ENSP00000382392:R563Q;ENSP00000313272:R567Q;ENSP00000443150:R563Q	ENSP00000313272:R567Q	R	-	2	0	NOP2	6539614	1.000000	0.71417	0.974000	0.42286	0.507000	0.33981	5.741000	0.68638	2.569000	0.86673	0.655000	0.94253	CGA		0.502	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170	
ACRBP	84519	broad.mit.edu	37	12	6756047	6756047	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:6756047T>C	ENST00000229243.2	-	2	268	c.175A>G	c.(175-177)Acc>Gcc	p.T59A	ACRBP_ENST00000414226.2_Missense_Mutation_p.T59A|ACRBP_ENST00000536350.1_Missense_Mutation_p.T59A	NM_032489.2	NP_115878.2			acrosin binding protein									p.T59A(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGACGGCAGGTAGTCTCTGCC	0.597																																					p.T59A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A175G	12						.						99.0	92.0	94.0					12																	6756047		2203	4300	6503	6626308	SO:0001583	missense	84519	exon2			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.175A>G	12.37:g.6756047T>C	ENSP00000229243:p.Thr59Ala		6626308	NM_032489		Missense_Mutation	SNP	ENST00000229243.2	37	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906614	0.52333	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350;ENST00000546114	T;T	0.42513	0.97;0.98	4.77	2.31	0.28768	.	0.440203	0.21703	N	0.070385	T	0.35885	0.0947	L	0.55481	1.735	0.21675	N	0.999597	B;B	0.33919	0.432;0.021	B;B	0.41466	0.358;0.034	T	0.14476	-1.0471	10	0.20046	T	0.44	0.7663	3.4256	0.07409	0.4536:0.1069:0.0:0.4395	.	59;59	E7EP66;Q8NEB7	.;ACRBP_HUMAN	A	59	ENSP00000229243:T59A;ENSP00000402725:T59A	ENSP00000229243:T59A	T	-	1	0	ACRBP	6626308	0.255000	0.24002	0.895000	0.35142	0.994000	0.84299	0.389000	0.20751	0.796000	0.33947	0.448000	0.29417	ACC		0.597	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489	
TPI1	7167	broad.mit.edu	37	12	6978505	6978505	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:6978505A>C	ENST00000229270.4	+	4	856	c.519A>C	c.(517-519)gaA>gaC	p.E173D	TPI1_ENST00000396705.5_Missense_Mutation_p.E136D|TPI1_ENST00000488464.2_Missense_Mutation_p.E54D|TPI1_ENST00000535434.1_Missense_Mutation_p.E54D	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	173					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)	p.E136D(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						ATGAAAGGGAAGCTGGCATCA	0.522											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E136D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A408C	12						.						179.0	191.0	187.0					12																	6978505		2203	4298	6501	6848766	SO:0001583	missense	7167	exon4				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.519A>C	12.37:g.6978505A>C	ENSP00000229270:p.Glu173Asp	638	6848766	NM_000365	B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263665	0.80358	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.95001	-3.58;-3.58;-3.58	4.4	3.21	0.36854	Aldolase-type TIM barrel (1);	0.000000	0.85682	U	0.000000	D	0.93756	0.8004	M	0.78049	2.395	0.80722	D	1	B	0.31968	0.349	B	0.39299	0.296	D	0.91398	0.5141	10	0.87932	D	0	.	7.1349	0.25523	0.7338:0.0:0.2662:0.0	.	173	P60174	TPIS_HUMAN	D	173;136;54	ENSP00000229270:E173D;ENSP00000379933:E136D;ENSP00000443599:E54D	ENSP00000229270:E173D	E	+	3	2	TPI1	6848766	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.194000	0.51005	0.617000	0.30160	0.379000	0.24179	GAA		0.522	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365	
LRRC23	10233	broad.mit.edu	37	12	7023157	7023157	+	3'UTR	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7023157A>C	ENST00000007969.8	+	0	1379				ENO2_ENST00000229277.1_5'Flank|ENO2_ENST00000538763.1_5'Flank|ENO2_ENST00000545045.2_5'Flank|ENO2_ENST00000544774.1_5'Flank|LRRC23_ENST00000323702.5_Missense_Mutation_p.E287D|ENO2_ENST00000541477.1_5'Flank|ENO2_ENST00000535366.1_5'Flank|LRRC23_ENST00000443597.2_3'UTR|LRRC23_ENST00000429740.1_Missense_Mutation_p.K198T	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23									p.E287D(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						CAAAGCTGGAAATTCATCACA	0.577																																					p.E287D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A861C	12						.						146.0	134.0	138.0					12																	7023157		2203	4300	6503	6893418	SO:0001624	3_prime_UTR_variant	10233	exon7			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.*127A>C	12.37:g.7023157A>C			6893418	NM_006992	A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	CCDS8569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.808|6.808	0.518165|0.518165	0.13005|0.13005	.|.	.|.	ENSG00000010626|ENSG00000010626	ENST00000323702|ENST00000429740	T|T	0.65732|0.35605	-0.17|1.3	2.93|2.93	1.69|1.69	0.24217|0.24217	.|.	.|.	.|.	.|.	.|.	T|T	0.24314|0.24314	0.0589|0.0589	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999991|0.999991	B|B	0.24721|0.33238	0.11|0.403	B|B	0.26969|0.30029	0.075|0.11	T|T	0.22243|0.22243	-1.0222|-1.0222	8|8	0.22109|0.87932	T|D	0.4|0	.|.	4.2705|4.2705	0.10783|0.10783	0.8075:0.0:0.1925:0.0|0.8075:0.0:0.1925:0.0	.|.	287|198	Q53EV4-2|E9PDZ4	.|.	D|T	287|198	ENSP00000317464:E287D|ENSP00000397192:K198T	ENSP00000317464:E287D|ENSP00000397192:K198T	E|K	+|+	3|2	2|0	LRRC23|LRRC23	6893418|6893418	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.069000|0.069000	0.16628|0.16628	0.041000|0.041000	0.13927|0.13927	0.479000|0.479000	0.27511|0.27511	0.379000|0.379000	0.24179|0.24179	GAA|AAA		0.577	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992	
ATN1	1822	broad.mit.edu	37	12	7043348	7043348	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7043348A>C	ENST00000356654.4	+	3	274	c.37A>C	c.(37-39)Agg>Cgg	p.R13R	ATN1_ENST00000396684.2_Silent_p.R13R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	13					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GATGTCAATGAGGAGTGGACG	0.537																																					p.R13R												.	.	0			c.A37C	12						.						44.0	47.0	46.0					12																	7043348		2203	4300	6503	6913609	SO:0001819	synonymous_variant	1822	exon3			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.37A>C	12.37:g.7043348A>C			6913609	NM_001007026	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.537	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
C1S	716	broad.mit.edu	37	12	7175028	7175028	+	Missense_Mutation	SNP	G	G	A	rs20573	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7175028G>A	ENST00000406697.1	+	13	1776	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	C1S_ENST00000360817.5_Missense_Mutation_p.R383H|C1S_ENST00000328916.3_Missense_Mutation_p.R383H|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.R216H			P09871	C1S_HUMAN	complement component 1, s subcomponent	383	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> H (in dbSNP:rs20573).		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.R383H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTCATCCGCTACACTTGT	0.473													G|||	47	0.00938498	0.0318	0.0043	5008	,	,		-128	0.002		0.0	False		,,,				2504	0.0				p.R383H	GBM(156;750 1943 12971 24779 31015)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1148A	12						.	G	HIS/ARG,HIS/ARG	115,4291	87.8+/-126.4	3,109,2091	166.0	160.0	162.0		1148,1148	-4.4	0.1	12	dbSNP_67	162	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	C1S	NM_001734.3,NM_201442.2	29,29	3,110,6390	AA,AG,GG		0.0116,2.6101,0.8919	benign,benign	383/689,383/689	7175028	116,12890	2203	4300	6503	7045289	SO:0001583	missense	716	exon10				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1148G>A	12.37:g.7175028G>A	ENSP00000385035:p.Arg383His		7045289	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	13	0.005952380952380952	10	0.02032520325203252	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	G	1.777	-0.482963	0.04383	0.026101	1.16E-4	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.67	-4.41	0.03590	Complement control module (2);Sushi/SCR/CCP (3);	0.885577	0.09535	N	0.789059	T	0.18341	0.0440	N	0.16266	0.395	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.13098	-1.0522	10	0.30078	T	0.28	.	11.1235	0.48304	0.5853:0.0887:0.326:0.0	rs20573	383	P09871	C1S_HUMAN	H	383;383;383;371;216	ENSP00000385035:R383H;ENSP00000328173:R383H;ENSP00000354057:R383H;ENSP00000384171:R216H	ENSP00000328173:R383H	R	+	2	0	C1S	7045289	0.000000	0.05858	0.097000	0.21041	0.399000	0.30720	-0.504000	0.06375	-0.738000	0.04817	-0.126000	0.14955	CGC		0.473	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
PEX5	5830	broad.mit.edu	37	12	7362394	7362394	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7362394G>A	ENST00000455147.2	+	16	2256	c.1676G>A	c.(1675-1677)cGc>cAc	p.R559H	PEX5_ENST00000434354.2_Missense_Mutation_p.R574H|PEX5_ENST00000266564.3_Missense_Mutation_p.R551H|PEX5_ENST00000266563.5_Missense_Mutation_p.R522H|PEX5_ENST00000420616.2_Missense_Mutation_p.R559H|PEX5_ENST00000412720.2_Missense_Mutation_p.R580H	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	559					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.R551H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						ATCCGGTCCCGCTATAACCTG	0.552																																					p.R522H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1565A	12						.						57.0	57.0	57.0					12																	7362394		2203	4300	6503	7253661	SO:0001583	missense	5830	exon14			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1676G>A	12.37:g.7362394G>A	ENSP00000400647:p.Arg559His		7253661	NM_001131024	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	34	5.343435	0.95783	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000420616;ENST00000412720;ENST00000266564	T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09	5.36	5.36	0.76844	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74749	0.3757	M	0.64676	1.99	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.999;1.0;0.975;0.975	P;D;D;P;P	0.74674	0.696;0.921;0.984;0.631;0.631	T	0.77046	-0.2733	10	0.87932	D	0	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	580;574;559;551;522	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	H	559;522;574;559;580;551	ENSP00000400647:R559H;ENSP00000266563:R522H;ENSP00000407401:R574H;ENSP00000410159:R559H;ENSP00000391601:R580H;ENSP00000266564:R551H	ENSP00000266563:R522H	R	+	2	0	PEX5	7253661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.509000	0.84616	0.561000	0.74099	CGC		0.552	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	
CD163	9332	broad.mit.edu	37	12	7633798	7633798	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7633798G>T	ENST00000359156.4	-	15	3504	c.3302C>A	c.(3301-3303)tCt>tAt	p.S1101Y	CD163_ENST00000541972.1_Missense_Mutation_p.S1089Y|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.S1101Y|CD163_ENST00000396620.3_Missense_Mutation_p.S1134Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1101					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S1101Y(1)|p.S1101F(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATTCAGGCAAGAATTCATCTC	0.453																																					p.S1101Y												.	.	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)	c.C3302A	12						.						136.0	130.0	132.0					12																	7633798		2203	4300	6503	7525065	SO:0001583	missense	9332	exon15			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3302C>A	12.37:g.7633798G>T	ENSP00000352071:p.Ser1101Tyr		7525065	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750189	0.49257	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01272	5.07;5.08;5.07;5.08	4.75	3.86	0.44501	.	0.386104	0.19606	N	0.110269	T	0.02848	0.0085	L	0.29908	0.895	0.33192	D	0.551035	D;P;D	0.71674	0.998;0.571;0.998	P;B;P	0.61940	0.896;0.183;0.896	T	0.42015	-0.9476	10	0.51188	T	0.08	.	6.5365	0.22357	0.1903:0.0:0.8097:0.0	.	1134;1101;1101	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	1101;1089;1134;1101	ENSP00000352071:S1101Y;ENSP00000444071:S1089Y;ENSP00000379863:S1134Y;ENSP00000403885:S1101Y	ENSP00000352071:S1101Y	S	-	2	0	CD163	7525065	0.973000	0.33851	0.985000	0.45067	0.950000	0.60333	1.844000	0.39269	2.634000	0.89283	0.455000	0.32223	TCT		0.453	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
CD163	9332	broad.mit.edu	37	12	7636043	7636043	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7636043G>T	ENST00000359156.4	-	12	3210	c.3008C>A	c.(3007-3009)tCt>tAt	p.S1003Y	CD163_ENST00000541972.1_Missense_Mutation_p.S991Y|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.S1003Y|CD163_ENST00000396620.3_Missense_Mutation_p.S1036Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1003	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S1003Y(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CCACAAGGAAGACTCATTCCC	0.522																																					p.S1003Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3008A	12						.						149.0	125.0	133.0					12																	7636043		2203	4300	6503	7527310	SO:0001583	missense	9332	exon12			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3008C>A	12.37:g.7636043G>T	ENSP00000352071:p.Ser1003Tyr		7527310	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.215040|3.215040	0.58452|0.58452	.|.	.|.	ENSG00000177575|ENSG00000177575	ENST00000537626|ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237	.|T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.|0.706960	.|0.13864	.|N	.|0.357447	T|T	0.68860|0.68860	0.3047|0.3047	M|M	0.89414|0.89414	3.03|3.03	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|1.0;0.993;0.998	.|D;P;D	.|0.74674	.|0.984;0.891;0.975	T|T	0.63440|0.63440	-0.6637|-0.6637	5|10	.|0.87932	.|D	.|0	.|.	12.0546|12.0546	0.53527|0.53527	0.0:0.0:0.8277:0.1722|0.0:0.0:0.8277:0.1722	.|.	.|1036;1003;1003	.|C9JHR8;Q86VB7-3;Q86VB7	.|.;.;C163A_HUMAN	I|Y	16|1003;43;991;1036;1003	.|ENSP00000352071:S1003Y;ENSP00000445438:S43Y;ENSP00000444071:S991Y;ENSP00000379863:S1036Y;ENSP00000403885:S1003Y	.|ENSP00000352071:S1003Y	L|S	-|-	1|2	0|0	CD163|CD163	7527310|7527310	0.000000|0.000000	0.05858|0.05858	0.577000|0.577000	0.28562|0.28562	0.984000|0.984000	0.73092|0.73092	0.349000|0.349000	0.20055|0.20055	2.707000|2.707000	0.92482|0.92482	0.555000|0.555000	0.69702|0.69702	CTT|TCT		0.522	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
CD163	9332	broad.mit.edu	37	12	7639546	7639546	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7639546G>A	ENST00000359156.4	-	9	2289	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	CD163_ENST00000541972.1_Missense_Mutation_p.S684L|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000432237.2_Missense_Mutation_p.S696L|CD163_ENST00000396620.3_Missense_Mutation_p.S729L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	696					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.S696L(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GCCCAAAGACGATGAATTGCA	0.438																																					p.S696L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2087T	12						.						105.0	93.0	97.0					12																	7639546		2203	4300	6503	7530813	SO:0001583	missense	9332	exon9			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2087C>T	12.37:g.7639546G>A	ENSP00000352071:p.Ser696Leu		7530813	NM_203416	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339417	0.41398	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.01313	5.03;5.04;5.02;5.03	4.75	3.86	0.44501	.	1.081370	0.07128	N	0.845110	T	0.01661	0.0053	L	0.31294	0.92	0.09310	N	1	B;P;B	0.39920	0.31;0.695;0.171	B;B;B	0.35899	0.025;0.213;0.018	T	0.52064	-0.8625	10	0.49607	T	0.09	.	9.1983	0.37242	0.103:0.0:0.897:0.0	.	729;696;696	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	L	696;684;729;696	ENSP00000352071:S696L;ENSP00000444071:S684L;ENSP00000379863:S729L;ENSP00000403885:S696L	ENSP00000352071:S696L	S	-	2	0	CD163	7530813	0.005000	0.15991	0.006000	0.13384	0.438000	0.31896	0.706000	0.25690	1.307000	0.44944	0.650000	0.86243	TCG		0.438	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
APOBEC1	339	broad.mit.edu	37	12	7805355	7805355	+	Missense_Mutation	SNP	C	C	T	rs144382507	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7805355C>T	ENST00000229304.4	-	3	141	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	41					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E41K(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CACTTGATTTCGTAGAGCAGA	0.448																																					p.E41K	Pancreas(135;929 1826 4531 10527 41012)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G121A	12						.						41.0	43.0	43.0					12																	7805355		2203	4299	6502	7696622	SO:0001583	missense	339	exon3			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.121G>A	12.37:g.7805355C>T	ENSP00000229304:p.Glu41Lys		7696622	NM_001644	Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.868103	0.72065	.	.	ENSG00000111701	ENST00000229304	T	0.66280	-0.2	4.48	4.48	0.54585	APOBEC-like, N-terminal (1);	0.000000	0.56097	D	0.000025	T	0.78780	0.4337	M	0.82056	2.57	0.35064	D	0.761806	D	0.89917	1.0	D	0.91635	0.999	D	0.86200	0.1618	10	0.87932	D	0	-19.9258	13.0361	0.58873	0.0:1.0:0.0:0.0	.	41	P41238	ABEC1_HUMAN	K	41	ENSP00000229304:E41K	ENSP00000229304:E41K	E	-	1	0	APOBEC1	7696622	1.000000	0.71417	0.982000	0.44146	0.541000	0.35023	3.725000	0.54970	2.224000	0.72417	0.462000	0.41574	GAA		0.448	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644	
GDF3	9573	broad.mit.edu	37	12	7842532	7842532	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7842532T>C	ENST00000329913.3	-	2	1084	c.1037A>G	c.(1036-1038)gAc>gGc	p.D346G		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	346					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.D346G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AATGACATTGTCATTATTGTC	0.473																																					p.D346G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1037G	12						.						110.0	100.0	103.0					12																	7842532		2203	4300	6503	7733799	SO:0001583	missense	9573	exon2			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.1037A>G	12.37:g.7842532T>C	ENSP00000331745:p.Asp346Gly		7733799	NM_020634	Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488756	0.44249	.	.	ENSG00000184344	ENST00000329913	T	0.75367	-0.93	3.78	3.78	0.43462	Transforming growth factor-beta, C-terminal (3);	0.137998	0.64402	D	0.000005	T	0.62233	0.2411	N	0.16130	0.375	0.80722	D	1	P	0.40144	0.704	P	0.44897	0.463	T	0.64175	-0.6469	10	0.42905	T	0.14	.	11.1155	0.48258	0.0:0.0:0.0:1.0	.	346	Q9NR23	GDF3_HUMAN	G	346	ENSP00000331745:D346G	ENSP00000331745:D346G	D	-	2	0	GDF3	7733799	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.302000	0.59092	1.670000	0.50864	0.459000	0.35465	GAC		0.473	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		
GDF3	9573	broad.mit.edu	37	12	7848241	7848241	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7848241G>T	ENST00000329913.3	-	1	131	c.84C>A	c.(82-84)gtC>gtA	p.V28V		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	28					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.V28V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATTGGAGAAAGACATATTCTT	0.478																																					p.V28V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C84A	12						.						43.0	44.0	44.0					12																	7848241		2203	4300	6503	7739508	SO:0001819	synonymous_variant	9573	exon1			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.84C>A	12.37:g.7848241G>T			7739508	NM_020634	Q8NEJ4	Silent	SNP	ENST00000329913.3	37	CCDS8581.1																																																																																				0.478	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		
CLEC4C	170482	broad.mit.edu	37	12	7883483	7883483	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:7883483C>A	ENST00000542353.1	-	6	897	c.407G>T	c.(406-408)aGa>aTa	p.R136I	CLEC4C_ENST00000354629.5_Missense_Mutation_p.R105I|CLEC4C_ENST00000540085.1_Missense_Mutation_p.R105I|CLEC4C_ENST00000360345.3_Missense_Mutation_p.R136I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	136	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R136I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGAAGAATTTCTTTTCAGATT	0.458																																					p.R105I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G314T	12						.						70.0	71.0	71.0					12																	7883483		2203	4300	6503	7774750	SO:0001583	missense	170482	exon5			AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.407G>T	12.37:g.7883483C>A	ENSP00000440428:p.Arg136Ile		7774750	NM_203503	D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.267185	0.01433	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345;ENST00000537530;ENST00000543765	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	1.88	-3.76	0.04359	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.14874	0.0359	L	0.45698	1.435	0.09310	N	1	B;B	0.20261	0.0;0.043	B;B	0.18871	0.0;0.023	T	0.10245	-1.0638	9	0.36615	T	0.2	.	4.2429	0.10658	0.3696:0.3806:0.0:0.2498	.	105;136	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	I	136;105;105;136;58;96	ENSP00000440428:R136I;ENSP00000346648:R105I;ENSP00000445338:R105I;ENSP00000353500:R136I;ENSP00000438649:R58I;ENSP00000442457:R96I	ENSP00000346648:R105I	R	-	2	0	CLEC4C	7774750	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.718000	0.00384	-4.135000	0.00070	-2.619000	0.00157	AGA		0.458	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503	
C3AR1	719	broad.mit.edu	37	12	8211947	8211947	+	Missense_Mutation	SNP	C	C	T	rs56297048	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:8211947C>T	ENST00000307637.4	-	2	1038	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	279					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.E279K(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GGGCTGGTTTCGTGATCTTCA	0.418																																					p.E279K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G835A	12						.						77.0	80.0	79.0					12																	8211947		2203	4300	6503	8103214	SO:0001583	missense	719	exon2			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.835G>A	12.37:g.8211947C>T	ENSP00000302079:p.Glu279Lys		8103214	NM_004054	O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	C	2.544	-0.305719	0.05495	.	.	ENSG00000171860	ENST00000307637	T	0.70869	-0.52	5.82	-0.666	0.11399	GPCR, rhodopsin-like superfamily (1);	4.421090	0.00496	N	0.000151	T	0.39462	0.1079	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42899	-0.9424	10	0.08837	T	0.75	.	5.059	0.14548	0.0:0.3258:0.1538:0.5204	rs56297048	279	Q16581	C3AR_HUMAN	K	279	ENSP00000302079:E279K	ENSP00000302079:E279K	E	-	1	0	C3AR1	8103214	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.786000	0.04623	-0.092000	0.12417	-0.984000	0.02558	GAA		0.418	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
A2ML1	144568	broad.mit.edu	37	12	9009773	9009773	+	Silent	SNP	C	C	A	rs535988756		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:9009773C>A	ENST00000299698.7	+	24	3042	c.2862C>A	c.(2860-2862)ggC>ggA	p.G954G	A2ML1_ENST00000539547.1_Silent_p.G463G	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.G954G(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACATTATGGGCACAGCCCTGC	0.507																																					p.G954G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2862A	12						.						99.0	98.0	98.0					12																	9009773		1942	4136	6078	8901040	SO:0001819	synonymous_variant	144568	exon24			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2862C>A	12.37:g.9009773C>A			8901040	NM_144670		Silent	SNP	ENST00000299698.7	37	CCDS8596.2																																																																																				0.507	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670	
A2M	2	broad.mit.edu	37	12	9246106	9246106	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:9246106C>T	ENST00000318602.7	-	18	2502	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	732	Inhibitory.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.R732Q(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GAAGTACTTTCGTACGGTCTC	0.458																																					p.R732Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2195A	12						.						110.0	103.0	106.0					12																	9246106		1920	4127	6047	9137373	SO:0001583	missense	2	exon18			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2195G>A	12.37:g.9246106C>T	ENSP00000323929:p.Arg732Gln		9137373	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688597	0.88639	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.64260	-0.09	5.11	5.11	0.69529	.	0.494944	0.17831	N	0.160522	T	0.82107	0.4965	M	0.89095	3.005	0.40854	D	0.983776	D	0.89917	1.0	D	0.75020	0.985	D	0.85578	0.1238	10	0.87932	D	0	.	15.6236	0.76829	0.0:1.0:0.0:0.0	.	732	P01023	A2MG_HUMAN	Q	732;747	ENSP00000323929:R732Q	ENSP00000323929:R732Q	R	-	2	0	A2M	9137373	0.791000	0.28800	0.047000	0.18901	0.670000	0.39368	7.432000	0.80349	2.538000	0.85594	0.655000	0.94253	CGA		0.458	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
A2M	2	broad.mit.edu	37	12	9260159	9260159	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:9260159A>G	ENST00000318602.7	-	8	1147	c.840T>C	c.(838-840)ggT>ggC	p.G280G		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	280					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.G280G(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GTGAATCTTCACCGTGGCAGT	0.443																																					p.G280G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T840C	12						.						92.0	90.0	91.0					12																	9260159		1895	4140	6035	9151426	SO:0001819	synonymous_variant	2	exon8			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.840T>C	12.37:g.9260159A>G			9151426	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	CCDS44827.1																																																																																				0.443	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
A2M	2	broad.mit.edu	37	12	9262564	9262564	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:9262564G>T	ENST00000318602.7	-	6	879	c.572C>A	c.(571-573)tCt>tAt	p.S191Y		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	191					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.S191Y(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GAGGGGAAAAGAAAATTGCTT	0.453																																					p.S191Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C572A	12						.						116.0	126.0	123.0					12																	9262564		2126	4277	6403	9153831	SO:0001583	missense	2	exon6			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.572C>A	12.37:g.9262564G>T	ENSP00000323929:p.Ser191Tyr		9153831	NM_000014	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115334	0.37339	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.75938	-0.98	5.41	4.52	0.55395	Alpha-2-macroglobulin, N-terminal (1);	0.455503	0.24520	N	0.037803	D	0.89241	0.6659	H	0.95917	3.74	0.09310	N	1	D	0.63880	0.993	D	0.66497	0.944	D	0.83562	0.0107	10	0.87932	D	0	.	12.2515	0.54601	0.0:0.1708:0.8292:0.0	.	191	P01023	A2MG_HUMAN	Y	191;206	ENSP00000323929:S191Y	ENSP00000323929:S191Y	S	-	2	0	A2M	9153831	0.030000	0.19436	0.017000	0.16124	0.275000	0.26752	0.788000	0.26872	1.264000	0.44198	0.561000	0.74099	TCT		0.453	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
CLECL1	160365	broad.mit.edu	37	12	9875343	9875343	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:9875343T>G	ENST00000327839.3	-	2	417	c.383A>C	c.(382-384)aAa>aCa	p.K128T		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	128	C-type lectin; atypical.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.K128T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						CCAGTAACATTTTCCCTTATG	0.348																																					p.K128T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A383C	12						.						113.0	101.0	105.0					12																	9875343		2203	4300	6503	9766610	SO:0001583	missense	160365	exon2			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.383A>C	12.37:g.9875343T>G	ENSP00000331766:p.Lys128Thr		9766610	NM_172004		Missense_Mutation	SNP	ENST00000327839.3	37	CCDS8603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.56|13.56	2.272832|2.272832	0.40194|0.40194	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000327839|ENST00000542530	T|.	0.19532|.	2.14|.	3.15|3.15	1.93|1.93	0.25924|0.25924	C-type lectin fold (1);C-type lectin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.47525|0.47525	0.1450|0.1450	M|M	0.75615|0.75615	2.305|2.305	0.22317|0.22317	N|N	0.999209|0.999209	D|.	0.57571|.	0.98|.	P|.	0.51806|.	0.68|.	T|T	0.38993|0.38993	-0.9635|-0.9635	8|5	.|.	.|.	.|.	.|.	5.7808|5.7808	0.18306|0.18306	0.2381:0.0:0.0:0.7619|0.2381:0.0:0.0:0.7619	.|.	128|.	Q8IZS7|.	CLCL1_HUMAN|.	T|H	128|80	ENSP00000331766:K128T|.	.|.	K|N	-|-	2|1	0|0	CLECL1|CLECL1	9766610|9766610	0.988000|0.988000	0.35896|0.35896	0.242000|0.242000	0.24170|0.24170	0.074000|0.074000	0.17049|0.17049	1.115000|1.115000	0.31209|0.31209	0.351000|0.351000	0.24027|0.24027	0.486000|0.486000	0.48141|0.48141	AAA|AAT		0.348	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004	
CLECL1	160365	broad.mit.edu	37	12	9885697	9885697	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:9885697G>T	ENST00000327839.3	-	1	198	c.164C>A	c.(163-165)tCt>tAt	p.S55Y		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TTTCTGCAAAGAAACTTCTGA	0.418																																					p.S55Y												.	.	0			c.C164A	12						.						82.0	84.0	83.0					12																	9885697		2203	4300	6503	9776964	SO:0001583	missense	160365	exon1			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"""dendritic cell associated lectin 1"""	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.164C>A	12.37:g.9885697G>T	ENSP00000331766:p.Ser55Tyr		9776964	NM_172004		Missense_Mutation	SNP	ENST00000327839.3	37	CCDS8603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.005|0.005	-2.141238|-2.141238	0.00332|0.00332	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000542530|ENST00000327839	.|T	.|0.55413	.|0.52	1.21|1.21	-1.01|-1.01	0.10169|0.10169	.|.	.|.	.|.	.|.	.|.	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.16041|0.16041	-1.0416|-1.0416	5|8	.|.	.|.	.|.	.|.	2.9134|2.9134	0.05744|0.05744	0.0:0.4022:0.3538:0.244|0.0:0.4022:0.3538:0.244	.|.	.|55	.|Q8IZS7	.|CLCL1_HUMAN	I|Y	7|55	.|ENSP00000331766:S55Y	.|.	L|S	-|-	1|2	0|0	CLECL1|CLECL1	9776964|9776964	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.048000|0.048000	0.14542|0.14542	-0.566000|-0.566000	0.05922|0.05922	-0.371000|-0.371000	0.08004|0.08004	0.453000|0.453000	0.30009|0.30009	CTT|TCT		0.418	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399815.1	NM_172004	
CD69	969	broad.mit.edu	37	12	9907823	9907823	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:9907823G>A	ENST00000228434.3	-	3	302	c.222C>T	c.(220-222)ttC>ttT	p.F74F	CD69_ENST00000536709.1_Silent_p.F74F	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	74					cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.F74F(1)		endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						ATGGCATTGAGAATGTGTATT	0.418																																					p.F74F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C222T	12						.						117.0	125.0	122.0					12																	9907823		2203	4300	6503	9799090	SO:0001819	synonymous_variant	969	exon3			Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.222C>T	12.37:g.9907823G>A			9799090	NM_001781		Silent	SNP	ENST00000228434.3	37	CCDS8604.1																																																																																				0.418	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399876.1		
GRIN2B	2904	broad.mit.edu	37	12	13906702	13906702	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:13906702G>A	ENST00000609686.1	-	3	768	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	187					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R187C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGGTGCTGCGGATCTTGTTT	0.473																																					p.R187C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C559T	12						.						128.0	123.0	125.0					12																	13906702		2203	4300	6503	13797969	SO:0001583	missense	2904	exon3				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.559C>T	12.37:g.13906702G>A	ENSP00000477455:p.Arg187Cys		13797969	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566221	0.86439	.	.	ENSG00000150086	ENST00000279593	D	0.83591	-1.74	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.92014	0.5620	10	0.87932	D	0	.	18.5808	0.91170	0.0:0.0:1.0:0.0	.	187	Q13224	NMDE2_HUMAN	C	187	ENSP00000279593:R187C	ENSP00000279593:R187C	R	-	1	0	GRIN2B	13797969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.447000	0.73465	2.373000	0.80994	0.561000	0.74099	CGC		0.473	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
GRIN2B	2904	broad.mit.edu	37	12	13906795	13906795	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:13906795C>T	ENST00000609686.1	-	3	675	c.466G>A	c.(466-468)Gta>Ata	p.V156I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	156					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V156I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGAGCATTACGGAAGCTTGC	0.408																																					p.V156I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G466A	12						.						75.0	73.0	74.0					12																	13906795		2203	4300	6503	13798062	SO:0001583	missense	2904	exon3				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.466G>A	12.37:g.13906795C>T	ENSP00000477455:p.Val156Ile		13798062	NM_000834	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975888	0.74360	.	.	ENSG00000150086	ENST00000279593	D	0.83419	-1.72	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82572	0.5066	L	0.53780	1.695	0.58432	D	0.999997	P	0.42908	0.793	B	0.42188	0.379	D	0.84415	0.0568	10	0.54805	T	0.06	.	18.5808	0.91170	0.0:1.0:0.0:0.0	.	156	Q13224	NMDE2_HUMAN	I	156	ENSP00000279593:V156I	ENSP00000279593:V156I	V	-	1	0	GRIN2B	13798062	1.000000	0.71417	0.874000	0.34290	0.996000	0.88848	4.878000	0.63093	2.373000	0.80994	0.561000	0.74099	GTA		0.408	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
GUCY2C	2984	broad.mit.edu	37	12	14794076	14794076	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:14794076C>T	ENST00000261170.3	-	18	2144	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	670	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.A670T(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ATCTCCTGTGCGATGATCCCA	0.498																																					p.A670T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2008A	12						.						151.0	112.0	125.0					12																	14794076		2203	4300	6503	14685343	SO:0001583	missense	2984	exon18				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2008G>A	12.37:g.14794076C>T	ENSP00000261170:p.Ala670Thr		14685343	NM_004963	B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673381	0.29693	.	.	ENSG00000070019	ENST00000261170	T	0.62364	0.03	5.34	4.25	0.50352	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.211165	0.48767	D	0.000165	T	0.46483	0.1395	N	0.25992	0.78	0.53005	D	0.999962	P	0.41345	0.746	B	0.36244	0.22	T	0.45308	-0.9270	10	0.27082	T	0.32	.	14.878	0.70510	0.0:0.9186:0.0:0.0814	.	670	P25092	GUC2C_HUMAN	T	670	ENSP00000261170:A670T	ENSP00000261170:A670T	A	-	1	0	GUCY2C	14685343	0.991000	0.36638	0.880000	0.34516	0.249000	0.25844	2.360000	0.44151	2.495000	0.84180	0.655000	0.94253	GCA		0.498	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1		
ART4	420	broad.mit.edu	37	12	14993757	14993757	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:14993757A>C	ENST00000228936.4	-	2	856	c.475T>G	c.(475-477)Tta>Gta	p.L159V	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	159					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)	p.L159V(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TAGTAGTGTAAATATTTGAAG	0.443																																					p.L159V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T475G	12						.						122.0	120.0	121.0					12																	14993757		2203	4300	6503	14885024	SO:0001583	missense	420	exon2			X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.475T>G	12.37:g.14993757A>C	ENSP00000228936:p.Leu159Val		14885024	NM_021071	Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211922	0.58452	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.14391	2.51;2.51	4.35	3.42	0.39159	.	0.150526	0.44285	D	0.000461	T	0.35711	0.0941	M	0.84219	2.685	0.37902	D	0.931078	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.38520	-0.9657	10	0.87932	D	0	-5.351	8.7492	0.34605	0.1219:0.0:0.8781:0.0	.	159;159	A8K6J7;Q93070	.;NAR4_HUMAN	V	159;142	ENSP00000228936:L159V;ENSP00000405689:L142V	ENSP00000228936:L159V	L	-	1	2	ART4	14885024	0.991000	0.36638	0.997000	0.53966	0.729000	0.41735	1.905000	0.39878	1.339000	0.45563	0.460000	0.39030	TTA		0.443	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071	
PTPRO	5800	broad.mit.edu	37	12	15636952	15636952	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:15636952C>T	ENST00000281171.4	+	2	450	c.120C>T	c.(118-120)atC>atT	p.I40I	PTPRO_ENST00000543886.1_Silent_p.I40I|PTPRO_ENST00000348962.2_Silent_p.I40I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	40					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.I40I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATAATAACATCGTTGTCTCAT	0.348																																					p.I40I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C120T	12						.						92.0	92.0	92.0					12																	15636952		2203	4300	6503	15528219	SO:0001819	synonymous_variant	5800	exon2			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.120C>T	12.37:g.15636952C>T			15528219	NM_002848	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	CCDS8675.1																																																																																				0.348	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1		
SLCO1B3	28234	broad.mit.edu	37	12	21028306	21028306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:21028306G>T	ENST00000381545.3	+	9	1084	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.E289*|LST3_ENST00000540229.1_Nonsense_Mutation_p.E289*|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Nonsense_Mutation_p.E289*	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	289					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.E289*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ACCACAAAAAGAAAGAAAAAT	0.328																																					p.E289X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G865T	12						.						87.0	85.0	86.0					12																	21028306		2203	4300	6503	20919573	SO:0001587	stop_gained	28234	exon8				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.865G>T	12.37:g.21028306G>T	ENSP00000370956:p.Glu289*		20919573	NM_019844	E7EMT8|Q5JAR4	Nonsense_Mutation	SNP	ENST00000381545.3	37	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	8.848	0.943785	0.18281	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	.	.	.	3.85	2.95	0.34219	.	1.879910	0.02116	N	0.055237	.	.	.	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	8.3761	0.32445	0.1145:0.0:0.8855:0.0	.	.	.	.	X	289;289;289;289;113;289	.	ENSP00000441269:E289X	E	+	1	0	SLCO1B3;RP11-545J16.1	20919573	0.824000	0.29247	0.103000	0.21229	0.021000	0.10359	0.996000	0.29719	0.831000	0.34780	0.406000	0.27484	GAA		0.328	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844	
SLCO1B1	10599	broad.mit.edu	37	12	21370158	21370158	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:21370158T>C	ENST00000256958.2	+	12	1699	c.1603T>C	c.(1603-1605)Tac>Cac	p.Y535H		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	535					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.Y535H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AAGGAAATTTTACTTTTTTGT	0.368																																					p.Y535H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1603C	12						.						143.0	144.0	144.0					12																	21370158		2203	4300	6503	21261425	SO:0001583	missense	10599	exon12				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1603T>C	12.37:g.21370158T>C	ENSP00000256958:p.Tyr535His		21261425	NM_006446	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	T	9.759	1.169669	0.21621	.	.	ENSG00000134538	ENST00000256958	T	0.40476	1.03	3.84	2.57	0.30868	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.504913	0.20650	N	0.088222	T	0.39545	0.1082	M	0.79475	2.455	0.19300	N	0.999979	B	0.26635	0.155	B	0.29267	0.1	T	0.20605	-1.0270	10	0.20519	T	0.43	.	6.9287	0.24429	0.2933:0.0:0.0:0.7067	.	535	Q9Y6L6	SO1B1_HUMAN	H	535	ENSP00000256958:Y535H	ENSP00000256958:Y535H	Y	+	1	0	SLCO1B1	21261425	0.003000	0.15002	0.094000	0.20943	0.026000	0.11368	-0.174000	0.09839	1.486000	0.48398	0.402000	0.26972	TAC		0.368	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	
GYS2	2998	broad.mit.edu	37	12	21713332	21713332	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:21713332C>T	ENST00000261195.2	-	8	1411	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	386					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.R386Q(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAGCTGTTTTCGCACTGCTTG	0.383																																					p.R386Q	Colon(149;9 1820 3690 10544 50424)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	12						.						195.0	173.0	181.0					12																	21713332		2203	4300	6503	21604599	SO:0001583	missense	2998	exon8				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1157G>A	12.37:g.21713332C>T	ENSP00000261195:p.Arg386Gln		21604599	NM_021957	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156184	0.78114	.	.	ENSG00000111713	ENST00000261195	T	0.63417	-0.04	4.96	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.74854	0.3771	L	0.57536	1.79	0.53005	D	0.999969	D	0.89917	1.0	D	0.81914	0.995	T	0.76462	-0.2950	10	0.51188	T	0.08	-6.4979	14.8858	0.70567	0.1443:0.8557:0.0:0.0	.	386	P54840	GYS2_HUMAN	Q	386	ENSP00000261195:R386Q	ENSP00000261195:R386Q	R	-	2	0	GYS2	21604599	1.000000	0.71417	0.896000	0.35187	0.973000	0.67179	7.638000	0.83328	1.304000	0.44892	0.563000	0.77884	CGA		0.383	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957	
CMAS	55907	broad.mit.edu	37	12	22208151	22208151	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:22208151G>A	ENST00000229329.2	+	2	459	c.329G>A	c.(328-330)cGa>cAa	p.R110Q		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	110					lipopolysaccharide biosynthetic process (GO:0009103)|N-acetylneuraminate metabolic process (GO:0006054)	membrane (GO:0016020)|nucleus (GO:0005634)	N-acylneuraminate cytidylyltransferase activity (GO:0008781)	p.R110Q(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CAAGTTCATCGAAGAAGTTCT	0.338																																					p.R110Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G329A	12						.						83.0	80.0	81.0					12																	22208151		2203	4300	6503	22099418	SO:0001583	missense	55907	exon2			AF271388	CCDS8696.1	12p12.1	2008-08-04			ENSG00000111726	ENSG00000111726			18290	protein-coding gene	gene with protein product	"""CMP-Neu5Ac synthetase"""	603316				8889549, 7566098	Standard	NM_018686		Approved		uc001rfm.4	Q8NFW8	OTTHUMG00000169097	ENST00000229329.2:c.329G>A	12.37:g.22208151G>A	ENSP00000229329:p.Arg110Gln		22099418	NM_018686	Q96AX5|Q9NQZ0	Missense_Mutation	SNP	ENST00000229329.2	37	CCDS8696.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239638	0.79800	.	.	ENSG00000111726	ENST00000229329	.	.	.	5.54	5.54	0.83059	.	0.080030	0.49305	D	0.000153	T	0.61400	0.2344	M	0.77486	2.375	0.52099	D	0.999946	P	0.50443	0.935	B	0.42163	0.378	T	0.63804	-0.6554	9	0.29301	T	0.29	-16.0592	17.6578	0.88182	0.0:0.0:1.0:0.0	.	110	Q8NFW8	NEUA_HUMAN	Q	110	.	ENSP00000229329:R110Q	R	+	2	0	CMAS	22099418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.000000	0.70678	2.597000	0.87782	0.591000	0.81541	CGA		0.338	CMAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402235.1	NM_018686	
LRMP	4033	broad.mit.edu	37	12	25257296	25257296	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:25257296C>T	ENST00000354454.3	+	19	1877	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	LRMP_ENST00000548766.1_Splice_Site_p.R350C|LRMP_ENST00000547044.1_Splice_Site_p.R350C	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	406					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R350C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTTATTTAGGCGTATTTTGGG	0.353																																					p.R350C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1048T	12						.						114.0	104.0	107.0					12																	25257296		2203	4300	6503	25148563	SO:0001630	splice_region_variant	4033	exon19				CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.1047-1C>T	12.37:g.25257296C>T			25148563	NM_006152	A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	CCDS8701.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489650	0.64074	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.41	4.49	0.54785	.	0.228793	0.31922	N	0.006848	T	0.35828	0.0945	M	0.67953	2.075	0.44359	D	0.997252	D	0.89917	1.0	D	0.73380	0.98	T	0.09143	-1.0688	10	0.72032	D	0.01	-12.8868	8.446	0.32843	0.3172:0.5382:0.1445:0.0	.	406	Q12912	LRMP_HUMAN	C	350;297;350;350	ENSP00000346442:R350C;ENSP00000444056:R297C;ENSP00000446496:R350C;ENSP00000450246:R350C	ENSP00000346442:R350C	R	+	1	0	LRMP	25148563	0.976000	0.34144	0.992000	0.48379	0.997000	0.91878	0.310000	0.19356	1.195000	0.43115	0.650000	0.86243	CGT		0.353	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152	Missense_Mutation
KRAS	3845	broad.mit.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000311936.3_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G13D	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,lung,NS,Substitution - Missense,-1 	.	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)	c.G38A	12						.						88.0	78.0	82.0					12																	25398281		2203	4300	6503	25289548	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp		25289548	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ITPR2	3709	broad.mit.edu	37	12	26493228	26493228	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:26493228C>T	ENST00000381340.3	-	56	8307	c.7891G>A	c.(7891-7893)Gcc>Acc	p.A2631T	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2631					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.A2631T(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGGGACATGGCTCGCATCCGA	0.453																																					p.A2631T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7891A	12						.						62.0	60.0	60.0					12																	26493228		1962	4175	6137	26384495	SO:0001583	missense	3709	exon56			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7891G>A	12.37:g.26493228C>T	ENSP00000370744:p.Ala2631Thr		26384495	NM_002223	O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	36	5.879168	0.97055	.	.	ENSG00000123104	ENST00000381340	T	0.44482	0.92	5.58	5.58	0.84498	.	0.131490	0.50627	D	0.000101	T	0.68997	0.3062	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70890	-0.4749	10	0.62326	D	0.03	.	19.9662	0.97271	0.0:1.0:0.0:0.0	.	2631	Q14571	ITPR2_HUMAN	T	2631	ENSP00000370744:A2631T	ENSP00000370744:A2631T	A	-	1	0	ITPR2	26384495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.793000	0.96121	0.655000	0.94253	GCC		0.453	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
ITPR2	3709	broad.mit.edu	37	12	26629850	26629850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:26629850C>A	ENST00000381340.3	-	44	6630	c.6214G>T	c.(6214-6216)Gaa>Taa	p.E2072*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2072					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.E2072*(1)|p.E2072Q(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTTACCAGTTCTCTGGGTCTC	0.343																																					p.E2072X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G6214T	12						.						107.0	95.0	99.0					12																	26629850		1810	4074	5884	26521117	SO:0001587	stop_gained	3709	exon44			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6214G>T	12.37:g.26629850C>A	ENSP00000370744:p.Glu2072*		26521117	NM_002223	O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	50	17.181068	0.99881	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	18.49	0.90843	0.0:1.0:0.0:0.0	.	.	.	.	X	2072	.	ENSP00000370744:E2072X	E	-	1	0	ITPR2	26521117	1.000000	0.71417	0.995000	0.50966	0.960000	0.62799	7.592000	0.82676	2.579000	0.87056	0.585000	0.79938	GAA		0.343	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223	
FGFR1OP2	26127	broad.mit.edu	37	12	27113451	27113451	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:27113451G>T	ENST00000229395.3	+	5	742	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	FGFR1OP2_ENST00000327214.5_Intron|FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.D134Y	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	134					wound healing (GO:0042060)	cytosol (GO:0005829)		p.D134Y(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					ACTACAGATTGACATGGTACA	0.398																																					p.D134Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G400T	12						.						84.0	70.0	75.0					12																	27113451		2203	4300	6503	27004718	SO:0001583	missense	26127	exon5			AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		ENST00000229395.3:c.400G>T	12.37:g.27113451G>T	ENSP00000229395:p.Asp134Tyr		27004718	NM_001171888	Q6R955|Q8N5L7|Q9P034|Q9UFK8	Missense_Mutation	SNP	ENST00000229395.3	37	CCDS8709.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473936	0.43942	.	.	ENSG00000111790	ENST00000229395;ENST00000546072	.	.	.	5.05	4.08	0.47627	.	0.118510	0.38005	N	0.001846	T	0.39253	0.1071	N	0.22421	0.69	0.80722	D	1	B;P	0.36944	0.22;0.574	B;B	0.38683	0.279;0.26	T	0.38308	-0.9667	9	0.59425	D	0.04	0.134	10.7346	0.46117	0.0:0.1925:0.8074:0.0	.	134;134	Q9NVK5;Q9NVK5-3	FGOP2_HUMAN;.	Y	134	.	ENSP00000229395:D134Y	D	+	1	0	FGFR1OP2	27004718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.879000	0.48522	2.726000	0.93360	0.655000	0.94253	GAC		0.398	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	NM_015633	
STK38L	23012	broad.mit.edu	37	12	27450761	27450761	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:27450761T>G	ENST00000389032.3	+	2	277	c.108T>G	c.(106-108)atT>atG	p.I36M	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like									p.I36M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GCAACCTAATTTTACAGCATG	0.393																																					p.I36M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T108G	12						.						122.0	126.0	124.0					12																	27450761		2203	4300	6503	27342028	SO:0001583	missense	23012	exon2			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.108T>G	12.37:g.27450761T>G	ENSP00000373684:p.Ile36Met		27342028	NM_015000		Missense_Mutation	SNP	ENST00000389032.3	37	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435353	0.43224	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000545470;ENST00000540996;ENST00000543246;ENST00000544969	T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45	5.03	1.28	0.21552	.	0.064020	0.64402	D	0.000007	T	0.29423	0.0733	N	0.25060	0.705	0.80722	D	1	B	0.28605	0.217	B	0.31337	0.128	T	0.03403	-1.1040	10	0.11182	T	0.66	.	3.6489	0.08195	0.1732:0.2437:0.0:0.5831	.	36	Q9Y2H1	ST38L_HUMAN	M	36	ENSP00000437856:I36M;ENSP00000373684:I36M;ENSP00000439457:I36M;ENSP00000443838:I36M;ENSP00000442253:I36M;ENSP00000440279:I36M	ENSP00000373684:I36M	I	+	3	3	STK38L	27342028	0.001000	0.12720	0.975000	0.42487	0.996000	0.88848	-0.117000	0.10708	0.313000	0.23062	0.482000	0.46254	ATT		0.393	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000	
ARNTL2	56938	broad.mit.edu	37	12	27540214	27540214	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:27540214C>T	ENST00000266503.5	+	7	636	c.618C>T	c.(616-618)ttC>ttT	p.F206F	ARNTL2_ENST00000311001.5_Silent_p.F192F|ARNTL2_ENST00000261178.5_Silent_p.F158F|ARNTL2_ENST00000544915.1_Silent_p.F172F|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000546179.1_Silent_p.F169F|ARNTL2_ENST00000542388.1_Silent_p.F121F|ARNTL2_ENST00000395901.2_Silent_p.F169F			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	206	Interaction with PER2. {ECO:0000250|UniProtKB:Q2VPD4}.|PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.F206F(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAATTCTCTTCGTTTCTAAGT	0.284																																					p.F206F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C618T	12						.						109.0	113.0	111.0					12																	27540214		2203	4300	6503	27431481	SO:0001819	synonymous_variant	56938	exon7			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.618C>T	12.37:g.27540214C>T			27431481	NM_020183	B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Silent	SNP	ENST00000266503.5	37	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	C	9.005	0.980950	0.18812	.	.	ENSG00000029153	ENST00000457040	.	.	.	3.79	0.931	0.19460	.	.	.	.	.	T	0.51160	0.1658	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39187	-0.9626	4	.	.	.	.	5.0707	0.14606	0.0:0.4726:0.0:0.5274	.	.	.	.	L	158	.	.	S	+	2	0	ARNTL2	27431481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.397000	0.34543	0.397000	0.25310	0.655000	0.94253	TCG		0.284	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1	NM_020183	
OVCH1	341350	broad.mit.edu	37	12	29598250	29598250	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:29598250C>T	ENST00000318184.5	-	23	2841	c.2842G>A	c.(2842-2844)Ggt>Agt	p.G948S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	948	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.G948S(3)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCAAATGCACCTCGTACAAGG	0.373																																					p.G948S												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G2842A	12						.						101.0	97.0	98.0					12																	29598250		1858	4101	5959	29489517	SO:0001583	missense	341350	exon23			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2842G>A	12.37:g.29598250C>T	ENSP00000326708:p.Gly948Ser		29489517	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	0.945	-0.708284	0.03230	.	.	ENSG00000187950	ENST00000318184	D	0.86297	-2.1	2.44	0.582	0.17412	CUB (3);	.	.	.	.	D	0.82884	0.5134	N	0.19112	0.55	0.20196	N	0.999927	D	0.76494	0.999	P	0.62813	0.907	T	0.71137	-0.4680	9	0.18710	T	0.47	.	4.6793	0.12727	0.0:0.6834:0.0:0.3166	.	948	Q7RTY7	OVCH1_HUMAN	S	948	ENSP00000326708:G948S	ENSP00000326708:G948S	G	-	1	0	OVCH1	29489517	0.797000	0.28877	0.930000	0.37139	0.020000	0.10135	0.331000	0.19733	0.155000	0.19261	-0.150000	0.13652	GGT		0.373	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
OVCH1	341350	broad.mit.edu	37	12	29649590	29649590	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:29649590G>A	ENST00000318184.5	-	2	81	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	28						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R28C(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGACCATGCGAATTCCACAC	0.428																																					p.R28C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C82T	12						.						133.0	125.0	127.0					12																	29649590		1877	4126	6003	29540857	SO:0001583	missense	341350	exon2			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.82C>T	12.37:g.29649590G>A	ENSP00000326708:p.Arg28Cys		29540857	NM_183378		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	g	10.08	1.251177	0.22880	.	.	ENSG00000187950	ENST00000318184	D	0.88431	-2.38	2.88	-1.01	0.10169	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.74344	0.3704	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.08055	0.003	T	0.62310	-0.6881	9	0.72032	D	0.01	.	6.136	0.20233	0.5204:0.0:0.4796:0.0	.	28	Q7RTY7	OVCH1_HUMAN	C	28	ENSP00000326708:R28C	ENSP00000326708:R28C	R	-	1	0	OVCH1	29540857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.060000	0.14342	-0.246000	0.09611	-1.003000	0.02500	CGC		0.428	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
IPO8	10526	broad.mit.edu	37	12	30789952	30789952	+	Missense_Mutation	SNP	G	G	A	rs144980917		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:30789952G>A	ENST00000256079.4	-	22	2997	c.2659C>T	c.(2659-2661)Cgt>Tgt	p.R887C	IPO8_ENST00000544829.1_Missense_Mutation_p.R682C	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	887					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.R887C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCTTTTGAACGATCTTCCCGG	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19270	0.0		0.0	False		,,,				2504	0.0				p.R887C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2659T	12						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	101.0	104.0		2044,2659	3.2	0.0	12	dbSNP_134	104	0,8600		0,0,4300	no	missense,missense	IPO8	NM_001190995.1,NM_006390.3	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	682/833,887/1038	30789952	1,13005	2203	4300	6503	30681219	SO:0001583	missense	10526	exon22			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2659C>T	12.37:g.30789952G>A	ENSP00000256079:p.Arg887Cys		30681219	NM_006390	B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	5.681	0.310274	0.10733	2.27E-4	0.0	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.67698	-0.28;-0.28	5.06	3.17	0.36434	Armadillo-type fold (1);	0.549782	0.20981	N	0.082202	T	0.57784	0.2077	N	0.22421	0.69	0.09310	N	1	P;P;B	0.50710	0.758;0.938;0.437	P;P;B	0.49140	0.601;0.545;0.276	T	0.50423	-0.8830	10	0.49607	T	0.09	-0.0219	10.2	0.43077	0.0746:0.1374:0.788:0.0	.	682;363;887	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	C	887;363;682	ENSP00000256079:R887C;ENSP00000444520:R682C	ENSP00000256079:R887C	R	-	1	0	IPO8	30681219	0.539000	0.26402	0.002000	0.10522	0.021000	0.10359	1.622000	0.36997	0.597000	0.29811	0.650000	0.86243	CGT		0.368	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
CAPRIN2	65981	broad.mit.edu	37	12	30869574	30869574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:30869574C>A	ENST00000395805.2	-	13	2774	c.2227G>T	c.(2227-2229)Gaa>Taa	p.E743*	CAPRIN2_ENST00000251071.5_Nonsense_Mutation_p.E778*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.E445*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.E729*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.E778*	NM_001206856.1	NP_001193785.1			caprin family member 2									p.E778*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATTTCTTGTTCTTTTCGTGGA	0.403																																					p.E778X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2332T	12						.						321.0	318.0	319.0					12																	30869574		2203	4300	6503	30760841	SO:0001587	stop_gained	65981	exon14			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2227G>T	12.37:g.30869574C>A	ENSP00000379150:p.Glu743*		30760841	NM_001002259		Nonsense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627460	0.87560	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	.	.	.	4.62	4.62	0.57501	.	0.428916	0.23912	N	0.043334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.3139	17.4729	0.87652	0.0:1.0:0.0:0.0	.	.	.	.	X	524;729;743;778;445;778;469;697	.	ENSP00000251071:E778X	E	-	1	0	CAPRIN2	30760841	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	5.109000	0.64615	2.099000	0.63709	0.655000	0.94253	GAA		0.403	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
CAPRIN2	65981	broad.mit.edu	37	12	30882157	30882157	+	Missense_Mutation	SNP	G	G	A	rs189302779	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:30882157G>A	ENST00000395805.2	-	8	1754	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.R403C|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.R70C|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R403C|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R403C	NM_001206856.1	NP_001193785.1			caprin family member 2									p.R403C(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATATCCCAACGTTTTGGGAGA	0.443													G|||	15	0.00299521	0.0	0.0	5008	,	,		20139	0.0		0.0	False		,,,				2504	0.0153				p.R403C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1207T	12						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	135.0	125.0	129.0		1207,1207,1207,1207	3.9	1.0	12		129	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	CAPRIN2	NM_032156.3,NM_023925.3,NM_001206856.1,NM_001002259.1	180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	403/961,403/1078,403/906,403/1128	30882157	1,13005	2203	4300	6503	30773424	SO:0001583	missense	65981	exon8			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1207C>T	12.37:g.30882157G>A	ENSP00000379150:p.Arg403Cys		30773424	NM_001002259		Missense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.04	2.117428	0.37339	0.0	1.16E-4	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.71461	2.69;-0.33;3.09;-0.35;-0.57;3.1;2.71	5.06	3.92	0.45320	.	0.224065	0.32028	N	0.006698	T	0.45438	0.1342	N	0.03608	-0.345	0.34367	D	0.691629	B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.49890	-0.8891	10	0.48119	T	0.1	-4.3984	9.0152	0.36166	0.9133:0.0:0.0867:0.0	.	403;129;403;403;403;403;403	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	C	149;403;403;403;70;403;129;322	ENSP00000415407:R149C;ENSP00000298892:R403C;ENSP00000379150:R403C;ENSP00000251071:R403C;ENSP00000309785:R70C;ENSP00000391479:R403C;ENSP00000438010:R322C	ENSP00000251071:R403C	R	-	1	0	CAPRIN2	30773424	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.878000	0.48515	0.874000	0.35823	-0.312000	0.09012	CGT		0.443	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
CAPRIN2	65981	broad.mit.edu	37	12	30906661	30906661	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:30906661C>T	ENST00000395805.2	-	1	584	c.37G>A	c.(37-39)Gag>Aag	p.E13K	RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.E13K|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E13K|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E13K	NM_001206856.1	NP_001193785.1			caprin family member 2									p.E13K(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGTGAGCTCGAAACCCAAT	0.408											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E13K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G37A	12						.						103.0	104.0	104.0					12																	30906661		2202	4299	6501	30797928	SO:0001583	missense	65981	exon1			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.37G>A	12.37:g.30906661C>T	ENSP00000379150:p.Glu13Lys	820	30797928	NM_001002259		Missense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416424	0.42918	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.72942	-0.7;2.78;-0.65;2.78	3.72	2.83	0.33086	.	.	.	.	.	T	0.45115	0.1326	N	0.08118	0	0.19575	N	0.999964	B;B;B;B	0.13145	0.004;0.007;0.002;0.003	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.25328	-1.0135	8	.	.	.	0.5218	5.7801	0.18301	0.0:0.7584:0.0:0.2416	.	13;13;13;13	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	K	13	ENSP00000298892:E13K;ENSP00000379150:E13K;ENSP00000251071:E13K;ENSP00000391479:E13K	.	E	-	1	0	CAPRIN2	30797928	0.001000	0.12720	0.056000	0.19401	0.500000	0.33767	0.235000	0.17948	0.783000	0.33636	0.563000	0.77884	GAG		0.408	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
KIAA1551	55196	broad.mit.edu	37	12	32136129	32136129	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:32136129C>T	ENST00000312561.4	+	4	2654	c.2240C>T	c.(2239-2241)tCt>tTt	p.S747F	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	747								p.S747F(1)									AATTATGAGTCTTCAGGTATA	0.373																																					p.S747F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2240T	12						.						78.0	77.0	78.0					12																	32136129		2203	4300	6503	32027396	SO:0001583	missense	55196	exon4			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2240C>T	12.37:g.32136129C>T	ENSP00000310338:p.Ser747Phe		32027396	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183383	0.57800	.	.	ENSG00000174718	ENST00000312561	T	0.14640	2.49	5.63	5.63	0.86233	.	0.425458	0.22649	N	0.057341	T	0.31327	0.0793	M	0.64997	1.995	0.09310	N	1	D	0.71674	0.998	D	0.65443	0.935	T	0.10359	-1.0633	9	.	.	.	.	11.8799	0.52568	0.0:0.9191:0.0:0.0809	.	747	Q9HCM1	CL035_HUMAN	F	747	ENSP00000310338:S747F	.	S	+	2	0	C12orf35	32027396	0.012000	0.17670	0.095000	0.20976	0.003000	0.03518	0.996000	0.29719	2.632000	0.89209	0.557000	0.71058	TCT		0.373	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
KIAA1551	55196	broad.mit.edu	37	12	32138280	32138280	+	Missense_Mutation	SNP	C	C	T	rs201030838		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:32138280C>T	ENST00000312561.4	+	4	4805	c.4391C>T	c.(4390-4392)tCg>tTg	p.S1464L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1464								p.S1464L(1)									AATAAAGCATCGAAGAAAATC	0.373																																					p.S1464L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4391T	12						.	C	LEU/SER	0,4404		0,0,2202	59.0	63.0	62.0		4391	2.1	0.0	12		62	1,8597		0,1,4298	no	missense	C12orf35	NM_018169.3	145	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	1464/1748	32138280	1,13001	2202	4299	6501	32029547	SO:0001583	missense	55196	exon4			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.4391C>T	12.37:g.32138280C>T	ENSP00000310338:p.Ser1464Leu		32029547	NM_018169	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084266	0.20309	0.0	1.16E-4	ENSG00000174718	ENST00000312561	T	0.14893	2.47	5.06	2.13	0.27403	.	0.750787	0.11771	N	0.531095	T	0.07773	0.0195	N	0.11756	0.17	0.09310	N	1	B	0.21688	0.059	B	0.15052	0.012	T	0.38972	-0.9636	9	.	.	.	.	4.202	0.10471	0.1577:0.4981:0.0:0.3442	.	1464	Q9HCM1	CL035_HUMAN	L	1464	ENSP00000310338:S1464L	.	S	+	2	0	C12orf35	32029547	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.304000	0.19228	0.600000	0.29862	0.557000	0.71058	TCG		0.373	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169	
DNM1L	10059	broad.mit.edu	37	12	32891219	32891219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:32891219G>T	ENST00000549701.1	+	16	1770	c.1696G>T	c.(1696-1698)Gaa>Taa	p.E566*	DNM1L_ENST00000266481.6_Intron|DNM1L_ENST00000358214.5_Intron|DNM1L_ENST00000381000.4_Intron|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000452533.2_Nonsense_Mutation_p.E540*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.E579*|DNM1L_ENST00000547312.1_Intron|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.E363*			O00429	DNM1L_HUMAN	dynamin 1-like	566	B domain.|Interaction with GSK3B.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.E566*(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAGCAGAAGAGAAACTAAAAA	0.338																																					p.E566X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1696T	12						.						85.0	90.0	89.0					12																	32891219		2203	4299	6502	32782486	SO:0001587	stop_gained	10059	exon16			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1696G>T	12.37:g.32891219G>T	ENSP00000450399:p.Glu566*		32782486	NM_012062	A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Nonsense_Mutation	SNP	ENST00000549701.1	37	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	38	6.726726	0.97792	.	.	ENSG00000087470	ENST00000452533;ENST00000553257;ENST00000549701;ENST00000414834	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.1696	0.54150	0.0:0.0:0.8181:0.1819	.	.	.	.	X	540;579;566;363	.	ENSP00000404160:E363X	E	+	1	0	DNM1L	32782486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.642000	0.54367	2.605000	0.88082	0.655000	0.94253	GAA		0.338	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062	
ALG10	84920	broad.mit.edu	37	12	34176901	34176901	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:34176901A>G	ENST00000266483.2	+	2	495	c.176A>G	c.(175-177)gAt>gGt	p.D59G	ALG10_ENST00000538927.1_Missense_Mutation_p.D59G|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	59					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.D59G(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTAAAGTGGGATCCCATGATT	0.413																																					p.D59G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A176G	12						.						208.0	204.0	205.0					12																	34176901		2203	4300	6503	34068168	SO:0001583	missense	84920	exon2			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.176A>G	12.37:g.34176901A>G	ENSP00000266483:p.Asp59Gly		34068168	NM_032834	Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078230	0.55753	.	.	ENSG00000139133	ENST00000266483;ENST00000538927	T;T	0.62498	0.02;0.02	3.57	3.57	0.40892	.	0.000000	0.85682	D	0.000000	D	0.82568	0.5065	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85690	0.1306	10	0.72032	D	0.01	.	10.4314	0.44409	1.0:0.0:0.0:0.0	.	59	Q5BKT4	AG10A_HUMAN	G	59	ENSP00000266483:D59G;ENSP00000444084:D59G	ENSP00000266483:D59G	D	+	2	0	ALG10	34068168	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	8.928000	0.92853	1.411000	0.46957	0.155000	0.16302	GAT		0.413	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834	
ALG10	84920	broad.mit.edu	37	12	34179449	34179449	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:34179449A>G	ENST00000266483.2	+	3	1340	c.1021A>G	c.(1021-1023)Act>Gct	p.T341A	AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	341					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.T341A(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGGAAATTCACTTATGCTCA	0.303																																					p.T341A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1021G	12						.						82.0	91.0	88.0					12																	34179449		2202	4294	6496	34070716	SO:0001583	missense	84920	exon3			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1021A>G	12.37:g.34179449A>G	ENSP00000266483:p.Thr341Ala		34070716	NM_032834	Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325840	0.60743	.	.	ENSG00000139133	ENST00000266483	T	0.57595	0.39	3.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.73620	-0.3925	10	0.52906	T	0.07	.	10.0836	0.42404	1.0:0.0:0.0:0.0	.	341	Q5BKT4	AG10A_HUMAN	A	341	ENSP00000266483:T341A	ENSP00000266483:T341A	T	+	1	0	ALG10	34070716	1.000000	0.71417	0.994000	0.49952	0.879000	0.50718	8.928000	0.92853	1.322000	0.45245	0.155000	0.16302	ACT		0.303	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834	
CPNE8	144402	broad.mit.edu	37	12	39155952	39155952	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:39155952C>A	ENST00000331366.5	-	9	738	c.642G>T	c.(640-642)aaG>aaT	p.K214N	CPNE8_ENST00000360449.3_Missense_Mutation_p.K202N	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	214	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.K214N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TGACTGAGATCTTGAATGCTT	0.308																																					p.K214N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G642T	12						.						114.0	107.0	109.0					12																	39155952		2203	4299	6502	37442219	SO:0001583	missense	144402	exon9			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.642G>T	12.37:g.39155952C>A	ENSP00000329748:p.Lys214Asn		37442219	NM_153634	Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618605	0.28801	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.70869	-0.52;-0.52	4.05	4.05	0.47172	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.167015	0.51477	D	0.000095	T	0.59783	0.2219	L	0.28400	0.85	0.53688	D	0.999977	B	0.12630	0.006	B	0.15870	0.014	T	0.57481	-0.7804	10	0.36615	T	0.2	-14.3691	15.8798	0.79195	0.0:1.0:0.0:0.0	.	214	Q86YQ8	CPNE8_HUMAN	N	214;202	ENSP00000329748:K214N;ENSP00000353633:K202N	ENSP00000329748:K214N	K	-	3	2	CPNE8	37442219	0.981000	0.34729	1.000000	0.80357	0.990000	0.78478	0.147000	0.16202	2.209000	0.71365	0.650000	0.86243	AAG		0.308	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	
CPNE8	144402	broad.mit.edu	37	12	39233749	39233749	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:39233749A>G	ENST00000331366.5	-	5	395	c.299T>C	c.(298-300)gTt>gCt	p.V100A	CPNE8_ENST00000360449.3_Missense_Mutation_p.V88A	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	100	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.V100A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTTTGAATCAACATCATACCT	0.234																																					p.V100A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T299C	12						.						23.0	26.0	25.0					12																	39233749		2181	4236	6417	37520016	SO:0001583	missense	144402	exon5			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.299T>C	12.37:g.39233749A>G	ENSP00000329748:p.Val100Ala		37520016	NM_153634	Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807023	0.50421	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.68479	-0.33;-0.33	4.38	4.38	0.52667	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.297314	0.26359	N	0.024824	T	0.60741	0.2292	L	0.39633	1.23	0.58432	D	0.999999	B	0.24186	0.099	B	0.33196	0.159	T	0.59611	-0.7422	10	0.38643	T	0.18	-21.7189	13.2732	0.60172	1.0:0.0:0.0:0.0	.	100	Q86YQ8	CPNE8_HUMAN	A	100;88	ENSP00000329748:V100A;ENSP00000353633:V88A	ENSP00000329748:V100A	V	-	2	0	CPNE8	37520016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.341000	0.90046	1.914000	0.55421	0.533000	0.62120	GTT		0.234	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	
CPNE8	144402	broad.mit.edu	37	12	39242371	39242371	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:39242371G>A	ENST00000331366.5	-	4	376	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	CPNE8_ENST00000360449.3_Missense_Mutation_p.R82C	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	94	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.R94C(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AAGTCAAAACGAAGATTCTCT	0.308																																					p.R94C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C280T	12						.						34.0	36.0	36.0					12																	39242371		2197	4285	6482	37528638	SO:0001583	missense	144402	exon4			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.280C>T	12.37:g.39242371G>A	ENSP00000329748:p.Arg94Cys		37528638	NM_153634	Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545615	0.65198	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.70516	-0.49;-0.49	3.8	3.8	0.43715	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000003	D	0.84401	0.5464	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.86708	0.1934	10	0.87932	D	0	-9.626	10.7166	0.46015	0.0:0.0:0.8086:0.1914	.	94	Q86YQ8	CPNE8_HUMAN	C	94;82	ENSP00000329748:R94C;ENSP00000353633:R82C	ENSP00000329748:R94C	R	-	1	0	CPNE8	37528638	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.160000	0.58164	2.045000	0.60652	0.484000	0.47621	CGT		0.308	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634	
KIF21A	55605	broad.mit.edu	37	12	39745637	39745637	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:39745637C>T	ENST00000361418.5	-	11	1630	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	KIF21A_ENST00000361961.3_Missense_Mutation_p.D539N|KIF21A_ENST00000395670.3_Missense_Mutation_p.D539N|KIF21A_ENST00000544797.2_Missense_Mutation_p.D539N|KIF21A_ENST00000541463.2_Missense_Mutation_p.D539N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	539					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D539N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTGCTAGGTCTATAATTTCA	0.343																																					p.D539N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1615A	12						.						103.0	108.0	106.0					12																	39745637		2203	4300	6503	38031904	SO:0001583	missense	55605	exon11			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1615G>A	12.37:g.39745637C>T	ENSP00000354878:p.Asp539Asn		38031904	NM_001173465	A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871946	0.91587	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.85	5.85	0.93711	.	0.000000	0.53938	D	0.000049	T	0.76083	0.3938	L	0.41961	1.31	0.54753	D	0.999985	P;D;D;D;D	0.69078	0.95;0.997;0.976;0.968;0.991	P;D;P;P;P	0.73380	0.648;0.98;0.6;0.772;0.798	T	0.68059	-0.5509	10	0.16896	T	0.51	.	20.1731	0.98165	0.0:1.0:0.0:0.0	.	539;539;539;539;539	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	N	539	ENSP00000354851:D539N;ENSP00000379029:D539N;ENSP00000445606:D539N;ENSP00000354878:D539N;ENSP00000438075:D539N	ENSP00000344501:D539N	D	-	1	0	KIF21A	38031904	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.023000	0.76437	2.768000	0.95171	0.655000	0.94253	GAC		0.343	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
ABCD2	225	broad.mit.edu	37	12	39994385	39994385	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:39994385T>C	ENST00000308666.3	-	6	1769	c.1634A>G	c.(1633-1635)tAt>tGt	p.Y545C		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	545	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.Y545C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTGTGGAATATAAAACATATG	0.363																																					p.Y545C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1634G	12						.						76.0	89.0	84.0					12																	39994385		2203	4299	6502	38280652	SO:0001583	missense	225	exon6			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1634A>G	12.37:g.39994385T>C	ENSP00000310688:p.Tyr545Cys		38280652	NM_005164	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	ENST00000308666.3	37	CCDS8734.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.071069	0.76301	.	.	ENSG00000173208	ENST00000308666	D	0.99872	-7.36	5.55	5.55	0.83447	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96610	0.9451	9	.	.	.	0.3565	15.6858	0.77409	0.0:0.0:0.0:1.0	.	545	Q9UBJ2	ABCD2_HUMAN	C	545	ENSP00000310688:Y545C	.	Y	-	2	0	ABCD2	38280652	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.952000	0.87827	2.108000	0.64289	0.377000	0.23210	TAT		0.363	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164	
C12orf40	283461	broad.mit.edu	37	12	40044129	40044129	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:40044129T>C	ENST00000324616.5	+	7	813	c.659T>C	c.(658-660)tTt>tCt	p.F220S	C12orf40_ENST00000405531.3_Missense_Mutation_p.F220S|C12orf40_ENST00000398716.1_Missense_Mutation_p.F143S	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	220								p.F220S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACTACACGATTTGGGACATTA	0.313																																					p.F220S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T659C	12						.						70.0	63.0	65.0					12																	40044129		1812	4069	5881	38330396	SO:0001583	missense	283461	exon7			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.659T>C	12.37:g.40044129T>C	ENSP00000317671:p.Phe220Ser		38330396	NM_001031748	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	T	2.989	-0.208547	0.06140	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.60040	0.22;0.25	3.53	-3.71	0.04424	.	0.747750	0.11536	N	0.554220	T	0.31071	0.0785	N	0.17082	0.46	0.09310	N	1	B	0.16396	0.017	B	0.13407	0.009	T	0.15150	-1.0447	10	0.62326	D	0.03	.	0.8433	0.01155	0.1648:0.2129:0.3375:0.2848	.	220	Q86WS4	CL040_HUMAN	S	220;143;220	ENSP00000383897:F220S;ENSP00000317671:F220S	ENSP00000317671:F220S	F	+	2	0	C12orf40	38330396	0.537000	0.26386	0.003000	0.11579	0.131000	0.20780	0.040000	0.13905	-0.739000	0.04809	-0.321000	0.08615	TTT		0.313	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	
SLC2A13	114134	broad.mit.edu	37	12	40158311	40158311	+	Silent	SNP	G	G	A	rs560658442		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:40158311G>A	ENST00000280871.4	-	9	1721	c.1671C>T	c.(1669-1671)gtC>gtT	p.V557V		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	557					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.V538V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTGAAACCAGGACATTGAAAA	0.328										HNSCC(50;0.14)																											p.V557V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1671T	12						.						104.0	104.0	104.0					12																	40158311		2203	4300	6503	38444578	SO:0001819	synonymous_variant	114134	exon9			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1671C>T	12.37:g.40158311G>A			38444578	NM_052885	Q17S07	Silent	SNP	ENST00000280871.4	37	CCDS8736.2																																																																																				0.328	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2		
LRRK2	120892	broad.mit.edu	37	12	40631867	40631867	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:40631867A>G	ENST00000298910.7	+	5	591	c.533A>G	c.(532-534)aAa>aGa	p.K178R	LRRK2_ENST00000343742.2_Missense_Mutation_p.K178R	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	178					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.K178R(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAAGTCCAGAAACTTGGATGC	0.323																																					p.K178R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A533G	12						.						100.0	102.0	101.0					12																	40631867		2203	4300	6503	38918134	SO:0001583	missense	120892	exon5			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.533A>G	12.37:g.40631867A>G	ENSP00000298910:p.Lys178Arg		38918134	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	7.202	0.593735	0.13875	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.54071	0.59;0.59;0.59	5.4	4.27	0.50696	Armadillo-like helical (1);Armadillo-type fold (1);	0.149830	0.46758	D	0.000279	T	0.32010	0.0815	N	0.25647	0.755	0.23421	N	0.997712	B	0.19935	0.04	B	0.17979	0.02	T	0.11299	-1.0593	10	0.13470	T	0.59	.	5.3017	0.15781	0.7576:0.0:0.0846:0.1578	.	178	Q5S007	LRRK2_HUMAN	R	107;178;178	ENSP00000398726:K107R;ENSP00000341930:K178R;ENSP00000298910:K178R	ENSP00000298910:K178R	K	+	2	0	LRRK2	38918134	0.995000	0.38212	1.000000	0.80357	0.957000	0.61999	1.966000	0.40481	2.055000	0.61198	0.533000	0.62120	AAA		0.323	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	broad.mit.edu	37	12	40643657	40643657	+	Missense_Mutation	SNP	G	G	A	rs201159244		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:40643657G>A	ENST00000298910.7	+	8	926	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E290K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	290					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E290K(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTATTAAACGAAGTCCATGA	0.388																																					p.E290K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G868A	12						.						81.0	77.0	78.0					12																	40643657		2203	4300	6503	38929924	SO:0001583	missense	120892	exon8			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.868G>A	12.37:g.40643657G>A	ENSP00000298910:p.Glu290Lys		38929924	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173765	0.57692	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.64991	-0.13;1.26;1.26	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.184440	0.47852	D	0.000212	T	0.51941	0.1704	L	0.27053	0.805	0.40401	D	0.979642	B	0.19935	0.04	B	0.14578	0.011	T	0.45454	-0.9260	10	0.35671	T	0.21	.	18.364	0.90384	0.0:0.0:1.0:0.0	.	290	Q5S007	LRRK2_HUMAN	K	174;290;290	ENSP00000398726:E174K;ENSP00000341930:E290K;ENSP00000298910:E290K	ENSP00000298910:E290K	E	+	1	0	LRRK2	38929924	1.000000	0.71417	0.728000	0.30774	0.074000	0.17049	3.799000	0.55529	2.627000	0.88993	0.558000	0.71614	GAA		0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
LRRK2	120892	broad.mit.edu	37	12	40646756	40646756	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:40646756C>T	ENST00000298910.7	+	11	1284	c.1226C>T	c.(1225-1227)tCt>tTt	p.S409F	LRRK2_ENST00000343742.2_Missense_Mutation_p.S409F	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	409					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.S409F(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGATGCATTCTTCATCAAAG	0.363																																					p.S409F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1226T	12						.						90.0	86.0	88.0					12																	40646756		2203	4300	6503	38933023	SO:0001583	missense	120892	exon11			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1226C>T	12.37:g.40646756C>T	ENSP00000298910:p.Ser409Phe		38933023	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596719	0.46318	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.39229	1.09;1.09	5.21	4.3	0.51218	Armadillo-like helical (1);Armadillo-type fold (1);	0.116936	0.64402	D	0.000011	T	0.51719	0.1691	L	0.59436	1.845	0.44188	D	0.997007	P;B	0.48694	0.914;0.44	P;B	0.51582	0.674;0.069	T	0.57585	-0.7786	10	0.87932	D	0	.	14.8811	0.70534	0.0:0.8552:0.1448:0.0	.	409;409	E9PC85;Q5S007	.;LRRK2_HUMAN	F	409	ENSP00000341930:S409F;ENSP00000298910:S409F	ENSP00000298910:S409F	S	+	2	0	LRRK2	38933023	0.964000	0.33143	0.824000	0.32777	0.093000	0.18481	3.637000	0.54324	1.295000	0.44724	0.585000	0.79938	TCT		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
CNTN1	1272	broad.mit.edu	37	12	41419109	41419109	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:41419109A>G	ENST00000551295.2	+	21	2798	c.2681A>G	c.(2680-2682)gAc>gGc	p.D894G	CNTN1_ENST00000348761.2_Missense_Mutation_p.D883G|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Missense_Mutation_p.D894G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	894	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.D894G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCTCCAAGTGACATGATTGAG	0.453																																					p.D883G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2648G	12						.						165.0	175.0	172.0					12																	41419109		2203	4300	6503	39705376	SO:0001583	missense	1272	exon20			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2681A>G	12.37:g.41419109A>G	ENSP00000447006:p.Asp894Gly		39705376	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.488019	0.26686	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.55052	0.54;0.54;0.54	5.15	5.15	0.70609	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.519067	0.22876	N	0.054565	T	0.43743	0.1261	L	0.53617	1.68	0.80722	D	1	B;B	0.15141	0.012;0.007	B;B	0.23852	0.049;0.032	T	0.47699	-0.9097	10	0.37606	T	0.19	.	3.5986	0.08016	0.6678:0.0:0.1569:0.1753	.	883;894	Q12860-2;Q12860	.;CNTN1_HUMAN	G	894;894;883	ENSP00000447006:D894G;ENSP00000325660:D894G;ENSP00000261160:D883G	ENSP00000325660:D894G	D	+	2	0	CNTN1	39705376	0.768000	0.28519	0.932000	0.37286	0.433000	0.31745	2.060000	0.41394	2.244000	0.73946	0.533000	0.62120	GAC		0.453	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
PDZRN4	29951	broad.mit.edu	37	12	41967135	41967135	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:41967135A>C	ENST00000402685.2	+	10	2562	c.2554A>C	c.(2554-2556)Agc>Cgc	p.S852R	PDZRN4_ENST00000539469.2_Missense_Mutation_p.S594R|PDZRN4_ENST00000298919.7_Missense_Mutation_p.S592R	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	852							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S594R(1)|p.S852R(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)				GCATTATCAAAGCTACATGCA	0.483																																					p.S852R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2554C	12						.						125.0	129.0	128.0					12																	41967135		2203	4300	6503	40253402	SO:0001583	missense	29951	exon10			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.2554A>C	12.37:g.41967135A>C	ENSP00000384197:p.Ser852Arg		40253402	NM_001164595	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577793	0.65878	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.78003	-1.14;3.37;3.36	5.07	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.87884	0.6290	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;1.0	D	0.88708	0.3220	10	0.87932	D	0	-25.3768	11.3519	0.49594	0.9274:0.0:0.0726:0.0	.	852;592;594	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	R	852;594;592	ENSP00000384197:S852R;ENSP00000439990:S594R;ENSP00000298919:S592R	ENSP00000298919:S592R	S	+	1	0	PDZRN4	40253402	1.000000	0.71417	0.972000	0.41901	0.977000	0.68977	7.456000	0.80751	1.018000	0.39521	0.528000	0.53228	AGC		0.483	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377	
YAF2	10138	broad.mit.edu	37	12	42554583	42554583	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:42554583T>G	ENST00000534854.2	-	4	418	c.351A>C	c.(349-351)gaA>gaC	p.E117D	YAF2_ENST00000380790.4_Missense_Mutation_p.E75D|YAF2_ENST00000442791.3_Missense_Mutation_p.E141D|YAF2_ENST00000327791.4_Missense_Mutation_p.E93D|YAF2_ENST00000380788.3_Missense_Mutation_p.E108D	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	117					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E117D(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		CAACAGTAACTTCCAAATGCT	0.378																																					p.E141D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A423C	12						.						57.0	51.0	53.0					12																	42554583		2203	4299	6502	40840850	SO:0001583	missense	10138	exon5			U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.351A>C	12.37:g.42554583T>G	ENSP00000439256:p.Glu117Asp		40840850	NM_001190979	A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	37	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472704	0.43942	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.71195	0.3311	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.67145	0.99;0.994;0.996;0.984	D;D;D;D	0.76071	0.98;0.97;0.987;0.956	T	0.71497	-0.4575	9	0.41790	T	0.15	.	10.3494	0.43924	0.0:0.073:0.0:0.927	.	75;108;93;117	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	D	93;141;117;75;108	.	ENSP00000328004:E93D	E	-	3	2	YAF2	40840850	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.746000	0.55127	2.180000	0.69256	0.533000	0.62120	GAA		0.378	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1		
PPHLN1	51535	broad.mit.edu	37	12	42835143	42835143	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:42835143C>T	ENST00000395568.2	+	10	1020	c.936C>T	c.(934-936)ttC>ttT	p.F312F	PPHLN1_ENST00000549190.1_Silent_p.F330F|PPHLN1_ENST00000432191.2_Silent_p.F257F|PPHLN1_ENST00000449194.2_Silent_p.F293F|PPHLN1_ENST00000256678.8_Silent_p.F192F|PPHLN1_ENST00000395580.3_Silent_p.F319F|PPHLN1_ENST00000337898.6_Silent_p.F257F|PPHLN1_ENST00000317560.9_Silent_p.F245F|PPHLN1_ENST00000552761.1_Silent_p.F264F|PPHLN1_ENST00000358314.7_Silent_p.F312F	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	312					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F312F(2)		breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GTGAAACTTTCGGGATGGTGG	0.378																																					p.F312F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C936T	12						.						158.0	153.0	155.0					12																	42835143		2203	4300	6503	41121410	SO:0001819	synonymous_variant	51535	exon10			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.936C>T	12.37:g.42835143C>T			41121410	NM_201439	E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	CCDS31777.1																																																																																				0.378	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515	
ADAMTS20	80070	broad.mit.edu	37	12	43822596	43822596	+	Missense_Mutation	SNP	C	C	T	rs538139197	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:43822596C>T	ENST00000389420.3	-	25	3495	c.3496G>A	c.(3496-3498)Gta>Ata	p.V1166I	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.V284I|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.V1166I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1166	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V1166I(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCACAAGATACGGAGCACTTT	0.428													C|||	3	0.000599042	0.0015	0.0	5008	,	,		11663	0.0		0.0	False		,,,				2504	0.001				p.V1166I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3496A	12						.						95.0	93.0	94.0					12																	43822596		2203	4300	6503	42108863	SO:0001583	missense	80070	exon25			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3496G>A	12.37:g.43822596C>T	ENSP00000374071:p.Val1166Ile		42108863	NM_025003	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726671	0.69074	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.0	5.0	0.66597	.	0.348014	0.20413	N	0.092824	T	0.73273	0.3566	M	0.87547	2.89	0.50039	D	0.99984	P;D	0.56521	0.83;0.976	B;P	0.46685	0.297;0.524	T	0.78122	-0.2327	10	0.44086	T	0.13	.	19.1616	0.93535	0.0:1.0:0.0:0.0	.	1166;284	P59510;E9PBD5	ATS20_HUMAN;.	I	1166;296;284;1166;1166	ENSP00000374071:V1166I;ENSP00000447427:V296I;ENSP00000378911:V284I;ENSP00000448341:V1166I	ENSP00000374068:V1166I	V	-	1	0	ADAMTS20	42108863	1.000000	0.71417	0.979000	0.43373	0.846000	0.48090	5.715000	0.68430	2.692000	0.91855	0.585000	0.79938	GTA		0.428	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
TMEM117	84216	broad.mit.edu	37	12	44693370	44693370	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:44693370C>A	ENST00000266534.3	+	6	743	c.616C>A	c.(616-618)Ctt>Att	p.L206I	TMEM117_ENST00000536799.1_Missense_Mutation_p.L102I|TMEM117_ENST00000551577.1_Missense_Mutation_p.L206I	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	206						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L206I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAGGACAGTTCTTTTTACTCT	0.408																																					p.L206I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C616A	12						.						213.0	195.0	201.0					12																	44693370		2203	4300	6503	42979637	SO:0001583	missense	84216	exon6			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.616C>A	12.37:g.44693370C>A	ENSP00000266534:p.Leu206Ile		42979637	NM_032256		Missense_Mutation	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045661	0.55110	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.50001	0.76;0.76;0.76	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	M	0.61703	1.905	0.40215	D	0.977677	D;D;D	0.64830	0.99;0.994;0.994	P;D;P	0.63488	0.627;0.915;0.828	T	0.68108	-0.5496	10	0.56958	D	0.05	-19.5462	19.0969	0.93255	0.0:1.0:0.0:0.0	.	206;102;206	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	I	206;206;102	ENSP00000448595:L206I;ENSP00000266534:L206I;ENSP00000445243:L102I	ENSP00000266534:L206I	L	+	1	0	TMEM117	42979637	1.000000	0.71417	0.369000	0.25952	0.400000	0.30750	3.858000	0.55979	2.584000	0.87258	0.585000	0.79938	CTT		0.408	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256	
NELL2	4753	broad.mit.edu	37	12	44915899	44915899	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:44915899A>C	ENST00000429094.2	-	18	2563	c.2059T>G	c.(2059-2061)Ttt>Gtt	p.F687V	NELL2_ENST00000333837.4_Missense_Mutation_p.F710V|NELL2_ENST00000452445.2_Missense_Mutation_p.F687V|NELL2_ENST00000437801.2_Missense_Mutation_p.F737V|NELL2_ENST00000551601.1_Missense_Mutation_p.F639V|NELL2_ENST00000549027.1_Missense_Mutation_p.F686V|NELL2_ENST00000395487.2_Missense_Mutation_p.F686V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	687	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.F737V(1)|p.F687V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGGCAGCAAAAAAGATCAACT	0.433																																					p.F687V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2059G	12						.						121.0	110.0	114.0					12																	44915899		2203	4300	6503	43202166	SO:0001583	missense	4753	exon18			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2059T>G	12.37:g.44915899A>C	ENSP00000390680:p.Phe687Val		43202166	NM_001145108	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979288	0.53827	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	T;T;T;T;T;T;D	0.81579	-1.47;-1.44;-1.15;-1.44;-1.47;-1.4;-1.51	5.7	5.7	0.88788	von Willebrand factor, type C (2);	0.100250	0.64402	D	0.000001	T	0.80660	0.4665	L	0.57536	1.79	0.45464	D	0.998436	B;B;B;B;B	0.33238	0.03;0.403;0.073;0.012;0.275	B;B;B;B;B	0.41946	0.022;0.371;0.033;0.014;0.144	T	0.75909	-0.3151	10	0.12103	T	0.63	-12.813	15.9708	0.80019	1.0:0.0:0.0:0.0	.	710;737;639;687;686	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	V	686;687;639;687;686;710;737	ENSP00000378866:F686V;ENSP00000390680:F687V;ENSP00000449332:F639V;ENSP00000394612:F687V;ENSP00000447927:F686V;ENSP00000327988:F710V;ENSP00000416341:F737V	ENSP00000327988:F710V	F	-	1	0	NELL2	43202166	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.497000	0.81536	2.167000	0.68274	0.528000	0.53228	TTT		0.433	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159	
PLEKHA8P1	51054	broad.mit.edu	37	12	45567643	45567643	+	RNA	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:45567643T>C	ENST00000256692.5	-	0	1042					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.N169S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAGACAAGTTATTGTCATG	0.393																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	12						.						168.0	161.0	163.0					12																	45567643		2203	4300	6503	43853910			51054	.			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567643T>C			43853910	.		Missense_Mutation	SNP	ENST00000256692.5	37																																																																																					0.393	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144	
PLEKHA8P1	51054	broad.mit.edu	37	12	45568091	45568091	+	RNA	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:45568091C>A	ENST00000256692.5	-	0	594					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.E20*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGGTCACTTCTTTTGTTTTA	0.393																																					.												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	12						.																																			43854358			51054	.			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568091C>A			43854358	.		Nonsense_Mutation	SNP	ENST00000256692.5	37																																																																																					0.393	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144	
ANO6	196527	broad.mit.edu	37	12	45810498	45810498	+	Silent	SNP	C	C	T	rs12308034	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:45810498C>T	ENST00000320560.8	+	17	2230	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Silent_p.F658F|ANO6_ENST00000423947.3_Silent_p.F697F|ANO6_ENST00000435642.1_Silent_p.F676F|ANO6_ENST00000425752.2_Silent_p.F676F	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	676					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.F676F(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AGTTTGGGTTCGTCACCTTAT	0.448													C|||	4	0.000798722	0.003	0.0	5008	,	,		19807	0.0		0.0	False		,,,				2504	0.0				p.F676F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2028T	12						.	C	,,,,	13,4393	19.1+/-41.9	0,13,2190	181.0	147.0	159.0		2028,1974,2028,2028,2091	4.8	1.0	12	dbSNP_120	159	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ANO6	NM_001025356.2,NM_001142678.1,NM_001142679.1,NM_001142680.1,NM_001204803.1	,,,,	0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076	,,,,	676/911,658/893,676/930,676/930,697/932	45810498	14,12992	2203	4300	6503	44096765	SO:0001819	synonymous_variant	196527	exon17			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2028C>T	12.37:g.45810498C>T			44096765	NM_001025356	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	CCDS31782.1																																																																																				0.448	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
ARID2	196528	broad.mit.edu	37	12	46211575	46211575	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:46211575A>G	ENST00000334344.6	+	5	713	c.541A>G	c.(541-543)Act>Gct	p.T181A	ARID2_ENST00000422737.1_Missense_Mutation_p.T32A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	181					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T181A(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TAACGTATGCACTCTCCTATC	0.388			"""N, S, F"""		hepatocellular carcinoma																																p.T181A			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A541G	12						.						100.0	90.0	93.0					12																	46211575		2203	4300	6503	44497842	SO:0001583	missense	196528	exon5				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.541A>G	12.37:g.46211575A>G	ENSP00000335044:p.Thr181Ala		44497842	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681054	0.88542	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.47177	0.85;0.85	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.70595	2.14	0.80722	D	1	D	0.64830	0.994	D	0.70716	0.97	T	0.71397	-0.4605	10	0.72032	D	0.01	-13.3409	15.3668	0.74529	1.0:0.0:0.0:0.0	.	181	Q68CP9	ARID2_HUMAN	A	181;32	ENSP00000335044:T181A;ENSP00000415650:T32A	ENSP00000335044:T181A	T	+	1	0	ARID2	44497842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.335000	0.96500	2.021000	0.59480	0.454000	0.30748	ACT		0.388	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
PCED1B	91523	broad.mit.edu	37	12	47472178	47472178	+	5'Flank	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:47472178C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R203Q|AMIGO2_ENST00000266581.4_Missense_Mutation_p.R203Q|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R203Q			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.R203Q(1)									GGAAGGAATTCGGTTATAAGA	0.413																																					p.R203Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G608A	12						.						68.0	62.0	64.0					12																	47472178		2203	4300	6503	45758445	SO:0001631	upstream_gene_variant	347902	exon2			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472178C>T	Exception_encountered		45758445	NM_181847	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075664	0.36662	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	4.92	0.84	0.18912	.	0.416223	0.20229	N	0.096530	T	0.01523	0.0049	N	0.11106	0.095	0.19575	N	0.999964	B	0.12013	0.005	B	0.14578	0.011	T	0.47289	-0.9129	10	0.28530	T	0.3	-5.6583	4.5798	0.12253	0.1437:0.4512:0.0:0.405	.	203	Q86SJ2	AMGO2_HUMAN	Q	203	ENSP00000266581:R203Q;ENSP00000449034:R203Q;ENSP00000406020:R203Q;ENSP00000320848:R203Q	ENSP00000266581:R203Q	R	-	2	0	AMIGO2	45758445	0.012000	0.17670	0.182000	0.23118	0.880000	0.50808	0.213000	0.17521	0.033000	0.15463	-0.140000	0.14226	CGA		0.413	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
PCED1B	91523	broad.mit.edu	37	12	47472485	47472485	+	5'Flank	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:47472485G>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.R101C|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R101C|AMIGO2_ENST00000266581.4_Missense_Mutation_p.R101C|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R101C			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.R101C(1)									TTGTTATGACGAAGAATTAGG	0.418																																					p.R101C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301T	12						.						127.0	123.0	124.0					12																	47472485		2203	4300	6503	45758752	SO:0001631	upstream_gene_variant	347902	exon2			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472485G>A	Exception_encountered		45758752	NM_181847	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406543	0.62399	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.84	4.84	0.62591	.	0.455532	0.23813	N	0.044310	T	0.41696	0.1170	L	0.31845	0.965	0.47621	D	0.999475	P	0.34934	0.476	B	0.22386	0.039	T	0.44513	-0.9323	10	0.51188	T	0.08	-13.311	11.6984	0.51556	0.0:0.0:0.7292:0.2708	.	101	Q86SJ2	AMGO2_HUMAN	C	101	ENSP00000266581:R101C;ENSP00000449034:R101C;ENSP00000406020:R101C;ENSP00000320848:R101C	ENSP00000266581:R101C	R	-	1	0	AMIGO2	45758752	1.000000	0.71417	0.216000	0.23742	0.923000	0.55619	4.600000	0.61083	2.615000	0.88500	0.655000	0.94253	CGT		0.418	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
OR10AD1	121275	broad.mit.edu	37	12	48596461	48596461	+	Silent	SNP	G	G	A	rs556517896		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:48596461G>A	ENST00000310248.2	-	1	709	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I205I(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GAATTACCACGATGGCATCGG	0.537																																					p.I205I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C615T	12						.						75.0	62.0	67.0					12																	48596461		2203	4300	6503	46882728	SO:0001819	synonymous_variant	121275	exon1				CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.615C>T	12.37:g.48596461G>A			46882728	NM_001004134	B9EGT9|Q6IFA8	Silent	SNP	ENST00000310248.2	37	CCDS31787.1																																																																																				0.537	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1		
DDX23	9416	broad.mit.edu	37	12	49225941	49225941	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:49225941C>G	ENST00000308025.3	-	15	2063	c.1984G>C	c.(1984-1986)Ggc>Cgc	p.G662R		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	662	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.G662R(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GGGTCAAAGCCTTGCTCCAAG	0.493																																					p.G662R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1984C	12						.						92.0	92.0	92.0					12																	49225941		2203	4300	6503	47512208	SO:0001583	missense	9416	exon15			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1984G>C	12.37:g.49225941C>G	ENSP00000310723:p.Gly662Arg		47512208	NM_004818	B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268915	0.80469	.	.	ENSG00000174243	ENST00000308025	T	0.04360	3.64	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05364	0.0142	N	0.16708	0.43	0.80722	D	1	P	0.40050	0.7	B	0.42062	0.374	T	0.57277	-0.7839	10	0.15499	T	0.54	-17.5756	19.6509	0.95805	0.0:1.0:0.0:0.0	.	662	Q9BUQ8	DDX23_HUMAN	R	662	ENSP00000310723:G662R	ENSP00000310723:G662R	G	-	1	0	DDX23	47512208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	2.941000	0.99782	0.655000	0.94253	GGC		0.493	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818	
CCDC65	85478	broad.mit.edu	37	12	49308306	49308306	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:49308306A>C	ENST00000320516.4	+	3	608	c.420A>C	c.(418-420)gaA>gaC	p.E140D	CCDC65_ENST00000266984.5_Missense_Mutation_p.E140D|RP11-302B13.5_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	140								p.E140D(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCCTGGAGGAAAGTTACAACA	0.572																																					p.E140D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A420C	12						.						67.0	59.0	61.0					12																	49308306		2203	4300	6503	47594573	SO:0001583	missense	85478	exon3				CCDS8772.1	12q13.12	2014-07-18			ENSG00000139537	ENSG00000139537			29937	protein-coding gene	gene with protein product		611088				17089017, 21700706	Standard	NM_033124		Approved	NYD-SP28, FLJ35732, FAP250, CILD27	uc001rso.3	Q8IXS2		ENST00000320516.4:c.420A>C	12.37:g.49308306A>C	ENSP00000312706:p.Glu140Asp		47594573	NM_033124	A6NJG5|B2RBE2|Q8N7G4|Q8NA91|Q96JA0	Missense_Mutation	SNP	ENST00000320516.4	37	CCDS8772.1	.	.	.	.	.	.	.	.	.	.	A	9.207	1.029882	0.19512	.	.	ENSG00000139537	ENST00000266984;ENST00000320516	T;T	0.33438	1.41;1.42	4.78	-0.0585	0.13796	.	0.208101	0.41097	D	0.000943	T	0.14614	0.0353	N	0.24115	0.695	0.23909	N	0.996492	B	0.09022	0.002	B	0.11329	0.006	T	0.25082	-1.0142	10	0.13853	T	0.58	-9.226	5.6689	0.17711	0.5242:0.1426:0.3332:0.0	.	140	Q8IXS2	CCD65_HUMAN	D	140	ENSP00000266984:E140D;ENSP00000312706:E140D	ENSP00000266984:E140D	E	+	3	2	CCDC65	47594573	0.462000	0.25791	0.972000	0.41901	0.983000	0.72400	0.156000	0.16382	0.102000	0.17638	0.482000	0.46254	GAA		0.572	CCDC65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408922.1	NM_033124	
KMT2D	8085	broad.mit.edu	37	12	49436357	49436357	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:49436357A>G	ENST00000301067.7	-	27	5853	c.5854T>C	c.(5854-5856)Ttc>Ctc	p.F1952L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1952					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.F1952L(1)|p.F1682L(1)									GAATCCAGGAACGGGGACTGG	0.562																																					p.F1952L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5854C	12						.						62.0	70.0	68.0					12																	49436357		2020	4164	6184	47722624	SO:0001583	missense	8085	exon27			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5854T>C	12.37:g.49436357A>G	ENSP00000301067:p.Phe1952Leu		47722624	NM_003482	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.264853	0.40095	.	.	ENSG00000167548	ENST00000301067	D	0.84730	-1.89	5.36	4.22	0.49857	.	0.000000	0.38326	N	0.001721	T	0.80565	0.4647	L	0.55481	1.735	0.42521	D	0.993008	B	0.21753	0.06	B	0.17433	0.018	T	0.76610	-0.2896	10	0.87932	D	0	.	8.6565	0.34066	0.9122:0.0:0.0878:0.0	.	1952	O14686	MLL2_HUMAN	L	1952	ENSP00000301067:F1952L	ENSP00000301067:F1952L	F	-	1	0	MLL2	47722624	0.995000	0.38212	0.915000	0.36163	0.994000	0.84299	3.391000	0.52530	0.894000	0.36317	0.459000	0.35465	TTC		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
LIMA1	51474	broad.mit.edu	37	12	50570975	50570975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:50570975C>A	ENST00000341247.4	-	11	2301	c.2152G>T	c.(2152-2154)Gaa>Taa	p.E718*	LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E719*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.E557*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.E559*|LIMA1_ENST00000552491.1_Nonsense_Mutation_p.E415*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.E558*|LIMA1_ENST00000547825.1_Nonsense_Mutation_p.E416*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	718					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.E718*(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GTAGTGAATTCTTCAGCAAAG	0.433																																					p.E719X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2155T	12						.						185.0	184.0	184.0					12																	50570975		2203	4300	6503	48857242	SO:0001587	stop_gained	51474	exon11			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.2152G>T	12.37:g.50570975C>A	ENSP00000340184:p.Glu718*		48857242	NM_001113546	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Nonsense_Mutation	SNP	ENST00000341247.4	37	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485712	0.96323	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	.	.	.	5.19	5.19	0.71726	.	0.372938	0.27522	N	0.018981	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.5865	0.56421	0.0:0.9243:0.0:0.0757	.	.	.	.	X	415;416;558;719;718;559;557;637	.	ENSP00000340184:E718X	E	-	1	0	LIMA1	48857242	1.000000	0.71417	0.895000	0.35142	0.663000	0.39108	4.378000	0.59568	2.865000	0.98341	0.655000	0.94253	GAA		0.433	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357	
DIP2B	57609	broad.mit.edu	37	12	51074484	51074484	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:51074484G>A	ENST00000301180.5	+	9	1178	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	382						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A382T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTAAAGTTGGCCTACACACT	0.363																																					p.A382T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1144A	12						.						182.0	206.0	198.0					12																	51074484		2203	4300	6503	49360751	SO:0001583	missense	57609	exon9			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1144G>A	12.37:g.51074484G>A	ENSP00000301180:p.Ala382Thr		49360751	NM_173602	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	35	5.557755	0.96514	.	.	ENSG00000066084	ENST00000301180	T	0.67865	-0.29	4.87	4.87	0.63330	AMP-dependent synthetase/ligase (1);	0.157062	0.56097	D	0.000022	D	0.84083	0.5394	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86555	0.1837	10	0.87932	D	0	-3.9152	18.6283	0.91349	0.0:0.0:1.0:0.0	.	382	Q9P265	DIP2B_HUMAN	T	382	ENSP00000301180:A382T	ENSP00000301180:A382T	A	+	1	0	DIP2B	49360751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.535000	0.98064	2.716000	0.92895	0.650000	0.86243	GCC		0.363	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602	
GALNT6	11226	broad.mit.edu	37	12	51753078	51753078	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:51753078G>A	ENST00000543196.2	-	7	1411	c.1206C>T	c.(1204-1206)tgC>tgT	p.C402C	GALNT6_ENST00000356317.3_Silent_p.C402C			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	402	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.C402C(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTACGACAGAGCAGGGGATGA	0.587																																					p.C402C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1206T	12						.						114.0	109.0	111.0					12																	51753078		2203	4300	6503	50039345	SO:0001819	synonymous_variant	11226	exon8			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1206C>T	12.37:g.51753078G>A			50039345	NM_007210	Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	CCDS8813.1																																																																																				0.587	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210	
SCN8A	6334	broad.mit.edu	37	12	52168104	52168104	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:52168104C>A	ENST00000354534.6	+	20	3955	c.3777C>A	c.(3775-3777)ttC>ttA	p.F1259L	SCN8A_ENST00000545061.1_Missense_Mutation_p.F1259L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1259					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.F1259L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TCGTCAAGTTCTTCACCAATG	0.502																																					p.F1259L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3777A	12						.						202.0	202.0	202.0					12																	52168104		2200	4300	6500	50454371	SO:0001583	missense	6334	exon20			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3777C>A	12.37:g.52168104C>A	ENSP00000346534:p.Phe1259Leu		50454371	NM_014191	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.248897	0.59103	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.98747	-5.11;-4.37;-4.37	5.04	3.24	0.37175	Ion transport (1);	0.060098	0.64402	D	0.000001	D	0.97396	0.9148	L	0.54863	1.705	0.51767	D	0.999936	P;B	0.40066	0.701;0.275	B;B	0.43536	0.423;0.156	D	0.96493	0.9365	10	0.87932	D	0	.	11.9743	0.53083	0.0:0.8621:0.0:0.1379	.	1259;1259	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	L	1259;1259;1259;1172	ENSP00000346534:F1259L;ENSP00000440360:F1259L;ENSP00000347255:F1259L	ENSP00000346534:F1259L	F	+	3	2	SCN8A	50454371	0.998000	0.40836	1.000000	0.80357	0.949000	0.60115	0.653000	0.24902	0.840000	0.34995	-1.036000	0.02392	TTC		0.502	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
GRASP	160622	broad.mit.edu	37	12	52407521	52407521	+	Nonsense_Mutation	SNP	C	C	T	rs367922208		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:52407521C>T	ENST00000293662.4	+	5	585	c.505C>T	c.(505-507)Cga>Tga	p.R169*	GRASP_ENST00000380039.2_Nonsense_Mutation_p.R26*|GRASP_ENST00000552049.1_Nonsense_Mutation_p.R26*|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	169	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R169*(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CATCCGGCATCGAGAGATTGT	0.542																																					p.R169X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C505T	12						.	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	103.0	107.0		505	5.1	1.0	12		107	0,8600		0,0,4300	no	stop-gained	GRASP	NM_181711.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		169/396	52407521	1,13005	2203	4300	6503	50693788	SO:0001587	stop_gained	160622	exon5			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.505C>T	12.37:g.52407521C>T	ENSP00000293662:p.Arg169*		50693788	NM_181711	Q6PIF8|Q7Z741	Nonsense_Mutation	SNP	ENST00000293662.4	37	CCDS8817.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865112	0.91511	2.27E-4	0.0	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	.	.	.	5.09	5.09	0.68999	.	0.122835	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.2602	15.529	0.75936	0.0:1.0:0.0:0.0	.	.	.	.	X	169;26;39;26	.	ENSP00000293662:R169X	R	+	1	2	GRASP	50693788	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	3.303000	0.51858	2.645000	0.89757	0.462000	0.41574	CGA		0.542	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404972.1		
KRT6C	286887	broad.mit.edu	37	12	52863047	52863047	+	Silent	SNP	G	G	A	rs371711981		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:52863047G>A	ENST00000252250.6	-	9	1541	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	498	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G498G(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CGCTGGCACCGCCATAGCCAC	0.612																																					p.G498G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1494T	12						.	G		1,4405	2.1+/-5.4	0,1,2202	45.0	43.0	44.0		1494	-0.5	0.0	12		44	0,8600		0,0,4300	no	coding-synonymous	KRT6C	NM_173086.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		498/565	52863047	1,13005	2203	4300	6503	51149314	SO:0001819	synonymous_variant	286887	exon9			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1494C>T	12.37:g.52863047G>A			51149314	NM_173086	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	ENST00000252250.6	37	CCDS8829.1																																																																																				0.612	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086	
KRT6A	3853	broad.mit.edu	37	12	52886667	52886667	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:52886667G>A	ENST00000330722.6	-	1	374	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	102	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.F102F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCACCACCGAAACCAAATC	0.657																																					p.F102F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C306T	12						.						17.0	21.0	19.0					12																	52886667		2186	4242	6428	51172934	SO:0001819	synonymous_variant	3853	exon1			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.306C>T	12.37:g.52886667G>A			51172934	NM_005554	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				0.657	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554	
KRT5	3852	broad.mit.edu	37	12	52913760	52913760	+	Silent	SNP	G	G	A	rs376691972		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:52913760G>A	ENST00000252242.4	-	1	711	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	107	Gly-rich.|Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.F107F(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ctccaccgccgaaaccaaatc	0.617																																					p.F107F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C321T	12						.	G		1,4405	2.1+/-5.4	0,1,2202	110.0	120.0	117.0		321	-11.6	0.3	12		117	0,8600		0,0,4300	no	coding-synonymous	KRT5	NM_000424.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		107/591	52913760	1,13005	2203	4300	6503	51200027	SO:0001819	synonymous_variant	3852	exon1				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.321C>T	12.37:g.52913760G>A			51200027	NM_000424	Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	CCDS8830.1																																																																																				0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1		
KRT71	112802	broad.mit.edu	37	12	52943888	52943888	+	Missense_Mutation	SNP	G	G	A	rs370058724		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:52943888G>A	ENST00000267119.5	-	2	650	c.581C>T	c.(580-582)aCg>aTg	p.T194M		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	194	Coil 1B.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.T194M(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCCAGACAGCGTCTCCAGCTG	0.592																																					p.T194M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C581T	12						.	G	MET/THR	0,4406		0,0,2203	194.0	175.0	181.0		581	1.2	0.7	12		181	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT71	NM_033448.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	194/524	52943888	1,13005	2203	4300	6503	51230155	SO:0001583	missense	112802	exon2			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.581C>T	12.37:g.52943888G>A	ENSP00000267119:p.Thr194Met		51230155	NM_033448	B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	37	CCDS8831.1	.	.	.	.	.	.	.	.	.	.	G	2.147	-0.395507	0.04899	0.0	1.16E-4	ENSG00000139648	ENST00000267119	D	0.88664	-2.41	5.49	1.22	0.21188	Filament (1);	0.501864	0.16739	N	0.201531	T	0.74756	0.3758	N	0.20986	0.625	0.09310	N	1	B	0.34161	0.439	B	0.26693	0.072	T	0.63125	-0.6707	10	0.33940	T	0.23	.	3.9485	0.09358	0.1507:0.3866:0.3561:0.1066	.	194	Q3SY84	K2C71_HUMAN	M	194	ENSP00000267119:T194M	ENSP00000267119:T194M	T	-	2	0	KRT71	51230155	0.000000	0.05858	0.705000	0.30386	0.035000	0.12851	-0.121000	0.10643	0.338000	0.23692	-0.224000	0.12420	ACG		0.592	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	NM_033448	
KRT74	121391	broad.mit.edu	37	12	52966368	52966368	+	Missense_Mutation	SNP	C	C	A	rs78832381	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:52966368C>A	ENST00000305620.2	-	2	602	c.555G>T	c.(553-555)aaG>aaT	p.K185N	KRT74_ENST00000549343.1_Missense_Mutation_p.K185N	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	185	Linker 1.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTCCAGGTTCTTCTTGCAGT	0.562																																					p.K185N												.	.	0			c.G555T	12						.						151.0	139.0	143.0					12																	52966368		2203	4300	6503	51252635	SO:0001583	missense	121391	exon2			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.555G>T	12.37:g.52966368C>A	ENSP00000307240:p.Lys185Asn		51252635	NM_175053	B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	1.630	-0.519279	0.04171	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.88741	-2.42;-2.42	4.71	-3.51	0.04696	Filament (1);	0.000000	0.37053	N	0.002276	T	0.68641	0.3023	N	0.01493	-0.835	0.23528	N	0.997481	B	0.13594	0.008	B	0.20384	0.029	T	0.56673	-0.7940	10	0.20519	T	0.43	.	14.8013	0.69919	0.0:0.1106:0.717:0.1724	.	185	Q7RTS7	K2C74_HUMAN	N	185	ENSP00000447447:K185N;ENSP00000307240:K185N	ENSP00000307240:K185N	K	-	3	2	KRT74	51252635	0.000000	0.05858	0.788000	0.31933	0.994000	0.84299	-3.270000	0.00532	-0.560000	0.06102	0.650000	0.86243	AAG		0.562	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053	
KRT72	140807	broad.mit.edu	37	12	52981442	52981442	+	Missense_Mutation	SNP	C	C	T	rs11170183	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:52981442C>T	ENST00000537672.2	-	7	1293	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	KRT72_ENST00000398066.3_Missense_Mutation_p.R240H|KRT72_ENST00000293745.2_Missense_Mutation_p.R428H|KRT72_ENST00000354310.4_Missense_Mutation_p.R386H	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	428	Coil 2.|Rod.		R -> L (in dbSNP:rs11170183). {ECO:0000269|PubMed:14702039}.			extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R428H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CAGCAGCTTGCGGTAGGTGGC	0.607																																					p.R386H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	12						.						105.0	96.0	99.0					12																	52981442		2203	4300	6503	51267709	SO:0001583	missense	140807	exon6			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1283G>A	12.37:g.52981442C>T	ENSP00000441160:p.Arg428His		51267709	NM_001146226	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609377	0.66558	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49	4.92	4.03	0.46877	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.44483	D	0.000445	D	0.96691	0.8920	H	0.98351	4.21	0.35610	D	0.80855	B	0.25719	0.132	B	0.29524	0.103	D	0.98643	1.0676	10	0.87932	D	0	.	14.1097	0.65113	0.0:0.926:0.0:0.074	.	428	Q14CN4	K2C72_HUMAN	H	428;428;386;240	ENSP00000441160:R428H;ENSP00000293745:R428H;ENSP00000346269:R386H;ENSP00000446151:R240H	ENSP00000293745:R428H	R	-	2	0	KRT72	51267709	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.630000	0.61297	1.383000	0.46405	0.650000	0.86243	CGC		0.607	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747	
KRT72	140807	broad.mit.edu	37	12	52992893	52992893	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:52992893G>A	ENST00000537672.2	-	2	440	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000293745.2_Missense_Mutation_p.R144W|RP11-641A6.2_ENST00000551089.1_RNA|KRT72_ENST00000354310.4_Missense_Mutation_p.R144W	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	144	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R144W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCCAGGAACCGCACCTGGAAC	0.562																																					p.R144W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430T	12						.						66.0	59.0	61.0					12																	52992893		2203	4300	6503	51279160	SO:0001583	missense	140807	exon2			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.430C>T	12.37:g.52992893G>A	ENSP00000441160:p.Arg144Trp		51279160	NM_001146226	B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	CCDS8833.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.786347|4.786347	0.90367|0.90367	.|.	.|.	ENSG00000170486|ENSG00000170486	ENST00000549979|ENST00000537672;ENST00000293745;ENST00000354310	.|D;D;D	.|0.92595	.|-3.07;-3.07;-3.07	5.38|5.38	4.48|4.48	0.54585|0.54585	.|Filament (1);	.|0.000000	.|0.48286	.|D	.|0.000191	D|D	0.96639|0.96639	0.8903|0.8903	M|M	0.90425|0.90425	3.115|3.115	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.992;0.992	D|D	0.97567|0.97567	1.0102|1.0102	5|10	.|0.72032	.|D	.|0.01	.|.	16.2081|16.2081	0.82142|0.82142	0.0:0.0:0.8655:0.1345|0.0:0.0:0.8655:0.1345	.|.	.|144;144	.|B4DEI8;Q14CN4	.|.;K2C72_HUMAN	V|W	140|144	.|ENSP00000441160:R144W;ENSP00000293745:R144W;ENSP00000346269:R144W	.|ENSP00000293745:R144W	A|R	-|-	2|1	0|2	KRT72|KRT72	51279160|51279160	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.514000|5.514000	0.67043|0.67043	1.573000|1.573000	0.49748|0.49748	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.562	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747	
KRT73	319101	broad.mit.edu	37	12	53010108	53010108	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:53010108C>T	ENST00000305748.3	-	2	538	c.504G>A	c.(502-504)caG>caA	p.Q168Q	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	168	Linker 1.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.Q168Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTCCAGCTGCTGTAGCAGCT	0.572																																					p.Q168Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G504A	12						.						141.0	131.0	134.0					12																	53010108		2203	4300	6503	51296375	SO:0001819	synonymous_variant	319101	exon2			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.504G>A	12.37:g.53010108C>T			51296375	NM_175068	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																				0.572	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	
KRT1	3848	broad.mit.edu	37	12	53070234	53070234	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:53070234C>T	ENST00000252244.3	-	7	1358	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	434	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.E434K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AGGGCATTCTCGCCACGCTGC	0.547																																					p.E434K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1300A	12						.						76.0	70.0	72.0					12																	53070234		2203	4300	6503	51356501	SO:0001583	missense	3848	exon7			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1300G>A	12.37:g.53070234C>T	ENSP00000252244:p.Glu434Lys		51356501	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463465	0.84425	.	.	ENSG00000167768	ENST00000252244	D	0.85484	-1.99	5.03	5.03	0.67393	Prefoldin (1);Filament (1);	.	.	.	.	D	0.94751	0.8306	H	0.97465	4.01	0.44261	D	0.997112	D	0.89917	1.0	D	0.85130	0.997	D	0.95733	0.8776	9	0.87932	D	0	.	12.1547	0.54070	0.0:0.9208:0.0:0.0792	.	434	P04264	K2C1_HUMAN	K	434	ENSP00000252244:E434K	ENSP00000252244:E434K	E	-	1	0	KRT1	51356501	0.999000	0.42202	0.642000	0.29436	0.693000	0.40251	4.074000	0.57577	2.502000	0.84385	0.462000	0.41574	GAG		0.547	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121	
KRT4	3851	broad.mit.edu	37	12	53201155	53201155	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:53201155C>T	ENST00000551956.1	-	8	1861	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	KRT4_ENST00000458244.2_Missense_Mutation_p.A437T|KRT4_ENST00000293774.4_Missense_Mutation_p.A531T			P19013	K2C4_HUMAN	keratin 4	471	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.A531T(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ATGCTCACGGCACTCTGGCAT	0.517																																					p.A531T	Pancreas(190;284 2995 41444 45903)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1591A	12						.						52.0	54.0	53.0					12																	53201155		2044	4221	6265	51487422	SO:0001583	missense	3851	exon8				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1369G>A	12.37:g.53201155C>T	ENSP00000448220:p.Ala457Thr		51487422	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391364	0.62066	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.72051	-0.62;-0.62;-0.62	4.82	2.93	0.34026	.	0.508491	0.16688	N	0.203675	T	0.65863	0.2732	L	0.48986	1.54	0.31029	N	0.717687	P	0.52316	0.952	P	0.51701	0.677	T	0.63580	-0.6605	10	0.31617	T	0.26	.	1.4269	0.02325	0.2979:0.3927:0.1446:0.1648	.	471	P19013	K2C4_HUMAN	T	457;531;437	ENSP00000448220:A457T;ENSP00000293774:A531T;ENSP00000387904:A437T	ENSP00000293774:A531T	A	-	1	0	KRT4	51487422	0.000000	0.05858	0.953000	0.39169	0.968000	0.65278	-0.131000	0.10482	0.707000	0.31934	0.561000	0.74099	GCC		0.517	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
EIF4B	1975	broad.mit.edu	37	12	53421577	53421577	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:53421577C>T	ENST00000262056.9	+	7	1005	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	EIF4B_ENST00000420463.3_Missense_Mutation_p.R227C|EIF4B_ENST00000416762.3_Missense_Mutation_p.R188C|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	227	Arg-rich.|Asp-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.R227C(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GTATCGAGATCGTTATGATTC	0.483																																					p.R227C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C679T	12						.						158.0	145.0	149.0					12																	53421577		1937	4130	6067	51707844	SO:0001583	missense	1975	exon7			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.679C>T	12.37:g.53421577C>T	ENSP00000262056:p.Arg227Cys		51707844	NM_001417	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	CCDS41788.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.42|18.42	3.621073|3.621073	0.66787|0.66787	.|.	.|.	ENSG00000063046|ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000416762;ENST00000549481|ENST00000430205	T;T;D|.	0.94184|.	0.53;0.51;-3.37|.	3.96|3.96	3.96|3.96	0.45880|0.45880	.|.	0.067071|0.067071	0.64402|0.64402	D|D	0.000010|0.000010	T|.	0.48554|.	0.1506|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	P;P;P|.	0.56343|.	0.796;0.63;0.63|.	T|.	0.37502|.	-0.9703|.	10|.	0.46703|0.02654	T|T	0.11|1	.|.	14.3398|14.3398	0.66617|0.66617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	188;227;227|.	B4DS13;E7EX17;P23588|.	.;.;IF4B_HUMAN|.	C|X	227;227;188;182|227	ENSP00000262056:R227C;ENSP00000388806:R227C;ENSP00000449746:R182C|.	ENSP00000262056:R227C|ENSP00000414531:R227X	R|R	+|+	1|1	0|2	EIF4B|EIF4B	51707844|51707844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.099000|6.099000	0.71466|0.71466	2.497000|2.497000	0.84241|0.84241	0.655000|0.655000	0.94253|0.94253	CGT|CGA		0.483	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417	
HOXC10	3226	broad.mit.edu	37	12	54379403	54379403	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:54379403G>A	ENST00000303460.4	+	1	434	c.360G>A	c.(358-360)gcG>gcA	p.A120A	HOXC-AS3_ENST00000514702.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000513165.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	120					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A120A(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						AGAAGCGGGCGAAAAGTGGCC	0.637																																					p.A120A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G360A	12						.						39.0	41.0	41.0					12																	54379403		2203	4300	6503	52665670	SO:0001819	synonymous_variant	3226	exon1				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.360G>A	12.37:g.54379403G>A			52665670	NM_017409	O15219|O15220|Q9BVD5	Silent	SNP	ENST00000303460.4	37	CCDS8868.1																																																																																				0.637	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2		
HOXC4	3221	broad.mit.edu	37	12	54448667	54448667	+	Missense_Mutation	SNP	G	G	A	rs11835301	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:54448667G>A	ENST00000430889.2	+	2	519	c.473G>A	c.(472-474)cGc>cAc	p.R158H	HOXC4_ENST00000303406.4_Missense_Mutation_p.R158H|HOXC4_ENST00000609810.1_Missense_Mutation_p.R158H	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	158			R -> L (in dbSNP:rs11835301).		multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R158H(1)		cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GAACCCAAGCGCTCGAGGACA	0.577																																					p.R158H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473A	12						.						37.0	39.0	38.0					12																	54448667		2203	4300	6503	52734934	SO:0001583	missense	3221	exon4				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.473G>A	12.37:g.54448667G>A	ENSP00000399808:p.Arg158His		52734934	NM_014620		Missense_Mutation	SNP	ENST00000430889.2	37	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750619	0.69533	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.97138	-4.26;-4.26	3.85	3.85	0.44370	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98985	0.9654	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99026	1.0819	10	0.87932	D	0	.	15.0798	0.72106	0.0:0.0:1.0:0.0	.	158	P09017	HXC4_HUMAN	H	158	ENSP00000305973:R158H;ENSP00000399808:R158H	ENSP00000305973:R158H	R	+	2	0	HOXC4	52734934	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.548000	0.98103	2.139000	0.66308	0.448000	0.29417	CGC		0.577	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1		
CBX5	23468	broad.mit.edu	37	12	54645900	54645900	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:54645900C>T	ENST00000439541.2	-	3	374	c.249G>A	c.(247-249)gaG>gaA	p.E83E	CBX5_ENST00000550411.1_Silent_p.E83E|CBX5_ENST00000209875.4_Silent_p.E83E	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	83					blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)	p.E83E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TTTCTGACTTCTCCCTGGGTT	0.378																																					p.E83E	Colon(153;588 2459 18334 48613)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G249A	12						.						162.0	163.0	163.0					12																	54645900		2203	4300	6503	52932167	SO:0001819	synonymous_variant	23468	exon3			U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.249G>A	12.37:g.54645900C>T			52932167	NM_001127322	B2R8T9	Silent	SNP	ENST00000439541.2	37	CCDS8875.1																																																																																				0.378	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117	
HNRNPA1	3178	broad.mit.edu	37	12	54675234	54675234	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:54675234A>G	ENST00000340913.6	+	2	133	c.80A>G	c.(79-81)gAt>gGt	p.D27G	CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.D27G|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.D27G|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.D27G|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	27	Globular A domain.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)	p.D27G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GAAACAACTGATGAGAGCCTG	0.502																																					p.D27G	Colon(83;502 1289 8436 16406 24870)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A80G	12						.						51.0	55.0	54.0					12																	54675234		2081	4246	6327	52961501	SO:0001583	missense	3178	exon2			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.80A>G	12.37:g.54675234A>G	ENSP00000341826:p.Asp27Gly		52961501	NM_031157	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414002	0.62511	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688	T;T;T;T;T;T;T	0.75704	2.28;2.28;2.28;2.28;-0.96;2.28;2.28	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.56097	D	0.000028	T	0.79052	0.4381	L	0.58510	1.815	0.58432	D	0.999996	B;B;B;B;B;P	0.38922	0.087;0.04;0.425;0.004;0.04;0.651	B;B;B;B;B;P	0.50934	0.184;0.122;0.37;0.043;0.122;0.654	T	0.81409	-0.0946	10	0.87932	D	0	.	12.293	0.54829	1.0:0.0:0.0:0.0	.	27;27;27;27;27;27	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	G	27;27;27;27;27;27;27;27;27;27;46	ENSP00000448617:D27G;ENSP00000448229:D27G;ENSP00000341826:D27G;ENSP00000333504:D27G;ENSP00000448117:D27G;ENSP00000447260:D27G;ENSP00000447782:D46G	ENSP00000333504:D27G	D	+	2	0	HNRNPA1	52961501	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.230000	0.95299	1.951000	0.56629	0.402000	0.26972	GAT		0.502	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157	
NFE2	4778	broad.mit.edu	37	12	54686929	54686929	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:54686929A>G	ENST00000540264.2	-	2	860	c.351T>C	c.(349-351)agT>agC	p.S117S	NFE2_ENST00000312156.4_Silent_p.S117S|NFE2_ENST00000435572.2_Silent_p.S117S|NFE2_ENST00000553070.1_Silent_p.S117S|RP11-968A15.8_ENST00000553061.1_RNA			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	117	Transactivation domain.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)	p.S117S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGAGCGGCTCACTGAGCAGGC	0.587																																					p.S117S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T351C	12						.						111.0	116.0	115.0					12																	54686929		2203	4300	6503	52973196	SO:0001819	synonymous_variant	4778	exon3			BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.351T>C	12.37:g.54686929A>G			52973196	NM_001136023	Q07720|Q6ICV9	Silent	SNP	ENST00000540264.2	37	CCDS8876.1																																																																																				0.587	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163	
ZNF385A	25946	broad.mit.edu	37	12	54765456	54765456	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:54765456C>A	ENST00000338010.5	-	5	518	c.465G>T	c.(463-465)gaG>gaT	p.E155D	ZNF385A_ENST00000551109.1_Missense_Mutation_p.E135D|ZNF385A_ENST00000546970.1_Missense_Mutation_p.E135D|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000551771.1_Intron|ZNF385A_ENST00000394313.2_Missense_Mutation_p.E135D|ZNF385A_ENST00000352268.6_Intron	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	155	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E135E(2)|p.E135D(2)|p.E155E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGGCTGTTTCTCTGGGGATC	0.602																																					p.E135D												.	.	5	Substitution - coding silent(3)|Substitution - Missense(2)	urinary_tract(3)|large_intestine(2)	c.G405T	12						.						48.0	54.0	52.0					12																	54765456		2203	4300	6503	53051723	SO:0001583	missense	25946	exon4			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.465G>T	12.37:g.54765456C>A	ENSP00000338927:p.Glu155Asp		53051723	NM_015481	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	ENST00000338010.5	37	CCDS44911.1	.	.	.	.	.	.	.	.	.	.	C	8.057	0.767296	0.15983	.	.	ENSG00000161642	ENST00000551109;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000546919;ENST00000549937;ENST00000549962;ENST00000547210;ENST00000550774	T;T;T;T;T;T;T;T;T	0.46451	1.48;1.48;1.49;1.48;1.47;1.47;0.87;0.89;0.91	3.43	2.47	0.30058	.	0.520862	0.19132	N	0.121910	T	0.18215	0.0437	N	0.08118	0	0.80722	D	1	B;B;B	0.33103	0.397;0.276;0.276	B;B;B	0.33960	0.173;0.027;0.027	T	0.04229	-1.0967	10	0.11485	T	0.65	-0.8735	6.0607	0.19837	0.0:0.8425:0.0:0.1575	.	135;135;135	F8VRY0;Q96PM9;F1T0F1	.;Z385A_HUMAN;.	D	135;135;155;135;135;163;118;135;135	ENSP00000449161:E135D;ENSP00000377849:E135D;ENSP00000338927:E155D;ENSP00000446913:E135D;ENSP00000448466:E135D;ENSP00000448567:E163D;ENSP00000450149:E118D;ENSP00000448264:E135D;ENSP00000449462:E135D	ENSP00000338927:E155D	E	-	3	2	ZNF385A	53051723	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.813000	0.38962	0.752000	0.32923	0.561000	0.74099	GAG		0.602	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1	NM_015481	
NCKAP1L	3071	broad.mit.edu	37	12	54936426	54936426	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:54936426G>A	ENST00000293373.6	+	31	3420	c.3341G>A	c.(3340-3342)cGa>cAa	p.R1114Q	RP11-1049A21.2_ENST00000547942.1_RNA|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R1064Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1114					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R1114Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTCCTGCTTCGAAATGCCTAT	0.537																																					p.R1064Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3191A	12						.						203.0	173.0	183.0					12																	54936426		2203	4300	6503	53222693	SO:0001583	missense	3071	exon31			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3341G>A	12.37:g.54936426G>A	ENSP00000293373:p.Arg1114Gln		53222693	NM_001184976	B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	33	5.249362	0.95305	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57107	0.42;0.42	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.69762	0.3147	M	0.62723	1.935	0.58432	D	0.999995	D	0.71674	0.998	D	0.79108	0.992	T	0.68322	-0.5439	10	0.46703	T	0.11	-6.7923	16.6815	0.85292	0.0:0.0:1.0:0.0	.	1114	P55160	NCKPL_HUMAN	Q	1114;1064	ENSP00000293373:R1114Q;ENSP00000445596:R1064Q	ENSP00000293373:R1114Q	R	+	2	0	NCKAP1L	53222693	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.125000	0.89590	2.802000	0.96397	0.655000	0.94253	CGA		0.537	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	
PDE1B	5153	broad.mit.edu	37	12	54962968	54962968	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:54962968G>A	ENST00000243052.3	+	4	664	c.228G>A	c.(226-228)cgG>cgA	p.R76R	PDE1B_ENST00000538346.1_Splice_Site_p.R35R|PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Splice_Site_p.R56R	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	76					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R76R(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GGGGTCTCAGGCAAATCTTGG	0.602																																					p.R76R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G228A	12						.						67.0	70.0	69.0					12																	54962968		2203	4300	6503	53249235	SO:0001630	splice_region_variant	5153	exon4			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.228-1G>A	12.37:g.54962968G>A			53249235	NM_000924	Q92825|Q96KP3	Silent	SNP	ENST00000243052.3	37	CCDS8882.1																																																																																				0.602	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1		Silent
PDE1B	5153	broad.mit.edu	37	12	54970476	54970476	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:54970476G>A	ENST00000243052.3	+	14	1934	c.1498G>A	c.(1498-1500)Gca>Aca	p.A500T	PDE1B_ENST00000538346.1_Missense_Mutation_p.A459T|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.A480T|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	500					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.A500T(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GAAGGAACGGGCAGCAAGTGG	0.542																																					p.A500T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1498A	12						.						52.0	37.0	42.0					12																	54970476		2203	4300	6503	53256743	SO:0001583	missense	5153	exon14			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1498G>A	12.37:g.54970476G>A	ENSP00000243052:p.Ala500Thr		53256743	NM_000924	Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120022	0.56613	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.73575	-0.76;-0.73;-0.74	5.0	5.0	0.66597	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.718976	0.13116	N	0.412595	T	0.77545	0.4146	L	0.34521	1.04	0.80722	D	1	P;D	0.58620	0.94;0.983	P;P	0.56788	0.794;0.806	T	0.76277	-0.3018	10	0.48119	T	0.1	.	16.1662	0.81757	0.0:0.0:1.0:0.0	.	480;500	Q01064-2;Q01064	.;PDE1B_HUMAN	T	500;459;480	ENSP00000243052:A500T;ENSP00000442559:A459T;ENSP00000448519:A480T	ENSP00000243052:A500T	A	+	1	0	PDE1B	53256743	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	6.664000	0.74437	2.491000	0.84063	0.561000	0.74099	GCA		0.542	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1		
NEUROD4	58158	broad.mit.edu	37	12	55420512	55420512	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:55420512C>T	ENST00000242994.3	+	2	667	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	97	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R97W(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TGCCAGAGAACGGACCCGGAT	0.498																																					p.R97W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C289T	12						.						78.0	80.0	79.0					12																	55420512		2203	4300	6503	53706779	SO:0001583	missense	58158	exon2			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.289C>T	12.37:g.55420512C>T	ENSP00000242994:p.Arg97Trp		53706779	NM_021191	B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573258	0.65765	.	.	ENSG00000123307	ENST00000242994	D	0.94138	-3.36	5.22	3.21	0.36854	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.97576	0.9206	H	0.97340	3.985	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.97442	1.0022	10	0.62326	D	0.03	-0.5427	10.8651	0.46851	0.5262:0.4738:0.0:0.0	.	97	Q9HD90	NDF4_HUMAN	W	97	ENSP00000242994:R97W	ENSP00000242994:R97W	R	+	1	2	NEUROD4	53706779	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.173000	0.42472	1.277000	0.44412	0.655000	0.94253	CGG		0.498	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1		
OR9K2	441639	broad.mit.edu	37	12	55524311	55524311	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:55524311A>G	ENST00000305377.5	+	1	847	c.759A>G	c.(757-759)atA>atG	p.I253M		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I253M(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TTCTAAAGATACATTCTACTG	0.373																																					p.I253M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A759G	12						.						128.0	116.0	120.0					12																	55524311		2203	4300	6503	53810578	SO:0001583	missense	441639	exon1			BK004326	CCDS31814.1	12q13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15339	protein-coding gene	gene with protein product							Standard	NM_001005243		Approved		uc010spe.2	Q8NGE7	OTTHUMG00000169827	ENST00000305377.5:c.759A>G	12.37:g.55524311A>G	ENSP00000307598:p.Ile253Met		53810578	NM_001005243	B9EH19|Q6IFD6	Missense_Mutation	SNP	ENST00000305377.5	37	CCDS31814.1	.	.	.	.	.	.	.	.	.	.	A	1.281	-0.610447	0.03690	.	.	ENSG00000170605	ENST00000305377	T	0.00241	8.46	4.98	-4.18	0.03846	GPCR, rhodopsin-like superfamily (1);	0.221424	0.32120	N	0.006558	T	0.00109	0.0003	N	0.21545	0.675	0.09310	N	1	P	0.37663	0.604	P	0.46452	0.517	T	0.47724	-0.9095	10	0.06757	T	0.87	-13.5522	0.2792	0.00242	0.3112:0.2261:0.2412:0.2216	.	253	Q8NGE7	OR9K2_HUMAN	M	253	ENSP00000307598:I253M	ENSP00000307598:I253M	I	+	3	3	OR9K2	53810578	0.000000	0.05858	0.063000	0.19743	0.113000	0.19764	-3.652000	0.00403	-0.430000	0.07318	-0.263000	0.10527	ATA		0.373	OR9K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406105.1		
OR6C74	254783	broad.mit.edu	37	12	55641265	55641265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:55641265C>A	ENST00000343870.4	+	1	284	c.194C>A	c.(193-195)tCa>tAa	p.S65*		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S65*(1)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CGAAATTTCTCATTTTTAGAA	0.403																																					p.S65X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C194A	12						.						153.0	153.0	153.0					12																	55641265		2203	4300	6503	53927532	SO:0001587	stop_gained	254783	exon1				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.194C>A	12.37:g.55641265C>A	ENSP00000342836:p.Ser65*		53927532	NM_001005490		Nonsense_Mutation	SNP	ENST00000343870.4	37	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	c	35	5.415894	0.96092	.	.	ENSG00000197706	ENST00000343870	.	.	.	4.83	4.83	0.62350	.	0.000000	0.43747	D	0.000525	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0501	0.89345	0.0:1.0:0.0:0.0	.	.	.	.	X	65	.	ENSP00000342836:S65X	S	+	2	0	OR6C74	53927532	0.023000	0.18921	0.997000	0.53966	0.923000	0.55619	2.917000	0.48821	2.650000	0.89964	0.551000	0.68910	TCA		0.403	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1		
MMP19	4327	broad.mit.edu	37	12	56231634	56231634	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:56231634G>A	ENST00000322569.4	-	7	1144	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	MMP19_ENST00000409200.3_Missense_Mutation_p.L305F|MMP19_ENST00000548629.1_Silent_p.F328F|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000394182.1_Silent_p.F65F	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	351					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F351F(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	TACCCTTAAAGAAGTGAATCC	0.507																																					p.F351F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1053T	12						.						113.0	115.0	114.0					12																	56231634		2203	4300	6503	54517901	SO:0001819	synonymous_variant	4327	exon7			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1053C>T	12.37:g.56231634G>A			54517901	NM_002429	B4E030|O15278|O95606|Q99580	Silent	SNP	ENST00000322569.4	37	CCDS8895.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842191	0.32513	.	.	ENSG00000123342	ENST00000409200	T	0.40225	1.04	5.94	5.05	0.67936	.	.	.	.	.	T	0.31071	0.0785	.	.	.	0.80722	D	1	B	0.25390	0.125	B	0.24848	0.056	T	0.07751	-1.0756	7	.	.	.	.	12.7174	0.57123	0.079:0.0:0.921:0.0	.	305	B4E030	.	F	305	ENSP00000386625:L305F	.	L	-	1	0	MMP19	54517901	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.309000	0.43699	1.532000	0.49169	0.561000	0.74099	CTT		0.507	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429	
ANKRD52	283373	broad.mit.edu	37	12	56638970	56638970	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:56638970A>C	ENST00000267116.7	-	22	2530	c.2409T>G	c.(2407-2409)caT>caG	p.H803Q	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	803								p.H803Q(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GACAATCTTCATGTCCTGGGC	0.493																																					p.H803Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2409G	12						.						152.0	137.0	141.0					12																	56638970		1995	4177	6172	54925237	SO:0001583	missense	283373	exon22			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2409T>G	12.37:g.56638970A>C	ENSP00000267116:p.His803Gln		54925237	NM_173595	A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.267418	0.40095	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.65549	-0.16	4.12	0.365	0.16131	Ankyrin repeat-containing domain (4);	0.060346	0.64402	D	0.000003	T	0.68668	0.3026	L	0.55213	1.73	0.54753	D	0.999982	D	0.63046	0.992	D	0.71184	0.972	T	0.62534	-0.6834	10	0.37606	T	0.19	.	9.2941	0.37804	0.6637:0.0:0.3363:0.0	.	803	Q8NB46	ANR52_HUMAN	Q	803	ENSP00000267116:H803Q	ENSP00000267116:H803Q	H	-	3	2	ANKRD52	54925237	0.916000	0.31088	0.995000	0.50966	0.717000	0.41224	0.246000	0.18160	-0.287000	0.09064	-1.777000	0.00654	CAT		0.493	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595	
RBMS2	5939	broad.mit.edu	37	12	56956299	56956299	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:56956299A>C	ENST00000262031.5	+	2	260	c.165A>C	c.(163-165)aaA>aaC	p.K55N	RBMS2_ENST00000542360.1_Intron|RBMS2_ENST00000549945.1_3'UTR|RBMS2_ENST00000552247.2_Missense_Mutation_p.K55N|RBMS2_ENST00000550726.1_Intron	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	55					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K55N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						AGCTGAGCAAAACCAACCTAT	0.498																																					p.K55N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A165C	12						.						145.0	124.0	131.0					12																	56956299		2203	4297	6500	55242566	SO:0001583	missense	5939	exon2			D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.165A>C	12.37:g.56956299A>C	ENSP00000262031:p.Lys55Asn		55242566	NM_002898		Missense_Mutation	SNP	ENST00000262031.5	37	CCDS8923.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530930	0.64972	.	.	ENSG00000076067	ENST00000262031;ENST00000552247	T;T	0.34472	2.68;1.36	4.56	2.22	0.28083	Nucleotide-binding, alpha-beta plait (1);	0.100619	0.64402	D	0.000003	T	0.44726	0.1307	M	0.61703	1.905	0.80722	D	1	D	0.54601	0.967	P	0.54590	0.756	T	0.33879	-0.9851	10	0.62326	D	0.03	.	7.9658	0.30098	0.8262:0.0:0.1738:0.0	.	55	Q15434	RBMS2_HUMAN	N	55	ENSP00000262031:K55N;ENSP00000447426:K55N	ENSP00000262031:K55N	K	+	3	2	RBMS2	55242566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.619000	0.46401	0.383000	0.24910	0.454000	0.30748	AAA		0.498	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898	
BAZ2A	11176	broad.mit.edu	37	12	56994467	56994467	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:56994467G>A	ENST00000551812.1	-	23	4799	c.4606C>T	c.(4606-4608)Cgg>Tgg	p.R1536W	BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1506W|BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1504W|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1534W	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1536					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1536W(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CAGCATACCCGAATCTGCAGA	0.517																																					p.R1536W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4606T	12						.						135.0	137.0	136.0					12																	56994467		2041	4212	6253	55280734	SO:0001583	missense	11176	exon23			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4606C>T	12.37:g.56994467G>A	ENSP00000446880:p.Arg1536Trp		55280734	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838507	0.71373	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.71579	-0.32;-0.32;-0.32;-0.58;-0.32	5.18	5.18	0.71444	.	0.058878	0.64402	D	0.000005	T	0.78214	0.4248	L	0.36672	1.1	0.50313	D	0.99986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.995;0.996;0.978;0.987	T	0.79564	-0.1751	10	0.87932	D	0	-19.3922	16.1035	0.81203	0.0:0.0:1.0:0.0	.	1534;1532;1536;1509	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	W	1506;1504;1536;468;1534	ENSP00000368754:R1506W;ENSP00000179765:R1504W;ENSP00000446880:R1536W;ENSP00000448760:R468W;ENSP00000447941:R1534W	ENSP00000179765:R1504W	R	-	1	2	BAZ2A	55280734	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.809000	0.55606	2.873000	0.98535	0.561000	0.74099	CGG		0.517	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
BAZ2A	11176	broad.mit.edu	37	12	56997201	56997201	+	Splice_Site	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:56997201A>G	ENST00000551812.1	-	18	3420	c.3227T>C	c.(3226-3228)gTt>gCt	p.V1076A	BAZ2A_ENST00000379441.3_Splice_Site_p.V1046A|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Splice_Site_p.V1044A|BAZ2A_ENST00000549884.1_Splice_Site_p.V1074A	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1076					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V1076A(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGTGGCATCAACCTAGGGAGA	0.443																																					p.V1076A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3227C	12						.						70.0	66.0	68.0					12																	56997201		1879	4107	5986	55283468	SO:0001630	splice_region_variant	11176	exon18			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3226-1T>C	12.37:g.56997201A>G			55283468	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	A	0.810	-0.752306	0.03041	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.70045	-0.14;-0.14;-0.15;-0.45;-0.15	5.2	2.64	0.31445	.	0.380529	0.26836	N	0.022248	T	0.49133	0.1539	L	0.40543	1.245	0.23396	N	0.997769	B;B;B	0.15930	0.015;0.006;0.009	B;B;B	0.16722	0.016;0.009;0.007	T	0.23868	-1.0176	10	0.09843	T	0.71	.	6.512	0.22226	0.5674:0.2912:0.0:0.1414	.	1074;1076;1076	F8VU39;Q9UIF9-3;Q9UIF9	.;.;BAZ2A_HUMAN	A	1046;1044;1076;12;1074	ENSP00000368754:V1046A;ENSP00000179765:V1044A;ENSP00000446880:V1076A;ENSP00000448760:V12A;ENSP00000447941:V1074A	ENSP00000179765:V1044A	V	-	2	0	BAZ2A	55283468	0.661000	0.27430	0.999000	0.59377	0.206000	0.24218	-1.512000	0.02258	0.904000	0.36572	-0.316000	0.08728	GTT		0.443	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	Missense_Mutation
NACA	4666	broad.mit.edu	37	12	57114545	57114545	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57114545A>G	ENST00000454682.1	-	3	1050	c.769T>C	c.(769-771)Tct>Cct	p.S257P	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S257P|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	257	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S257P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTGTGGAGAAATCAGAACT	0.512			T	BCL6	NHL																																p.S257P			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T769C	12						.						172.0	159.0	163.0					12																	57114545		1568	3582	5150	55400812	SO:0001583	missense	4666	exon3			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.769T>C	12.37:g.57114545A>G	ENSP00000403817:p.Ser257Pro		55400812	NM_001113203		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	a	13.92	2.380002	0.42207	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.30448	1.53;1.53	3.58	-1.13	0.09775	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.19300	N	0.999972	B;B	0.14012	0.009;0.004	B;B	0.17098	0.017;0.01	T	0.22626	-1.0211	9	0.87932	D	0	.	3.3985	0.07315	0.4606:0.2128:0.3265:0.0	.	257;257	E9PAV3;F8VU71	.;.	P	257	ENSP00000403817:S257P;ENSP00000448035:S257P	ENSP00000403817:S257P	S	-	1	0	NACA	55400812	0.678000	0.27586	0.714000	0.30535	0.169000	0.22640	0.847000	0.27696	-0.594000	0.05836	0.235000	0.17854	TCT		0.512	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
SDR9C7	121214	broad.mit.edu	37	12	57328006	57328006	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57328006A>G	ENST00000293502.1	-	1	183	c.40T>C	c.(40-42)Ttc>Ctc	p.F14L		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	14					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)	p.F14L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAGTTCTTGAACCAGCGATAC	0.542																																					p.F14L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T40C	12						.						66.0	64.0	64.0					12																	57328006		2203	4300	6503	55614273	SO:0001583	missense	121214	exon1			AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.40T>C	12.37:g.57328006A>G	ENSP00000293502:p.Phe14Leu		55614273	NM_148897	B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380464	0.24944	.	.	ENSG00000170426	ENST00000293502	D	0.88741	-2.42	5.18	1.47	0.22746	.	0.445173	0.21296	N	0.076900	T	0.72779	0.3503	N	0.08118	0	0.33113	D	0.54076	B	0.02656	0.0	B	0.01281	0.0	T	0.64330	-0.6433	10	0.12430	T	0.62	.	8.8266	0.35059	0.7692:0.0:0.2308:0.0	.	14	Q8NEX9	DR9C7_HUMAN	L	14	ENSP00000293502:F14L	ENSP00000293502:F14L	F	-	1	0	SDR9C7	55614273	0.990000	0.36364	1.000000	0.80357	0.170000	0.22686	0.512000	0.22755	0.432000	0.26286	0.533000	0.62120	TTC		0.542	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897	
RDH16	8608	broad.mit.edu	37	12	57345977	57345977	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57345977C>T	ENST00000398138.3	-	4	1646	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	264					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)	p.V264M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CAGTTGGTCACCAACGACAGA	0.498																																					p.V264M	GBM(179;741 2921 43105 45298)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G790A	12						.						93.0	104.0	100.0					12																	57345977		2138	4251	6389	55632244	SO:0001583	missense	8608	exon4				CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.790G>A	12.37:g.57345977C>T	ENSP00000381206:p.Val264Met		55632244	NM_003708	Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	37	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525980	0.64860	.	.	ENSG00000139547	ENST00000398138	D	0.90676	-2.71	5.08	5.08	0.68730	NAD(P)-binding domain (1);	0.000000	0.56097	D	0.000022	D	0.96965	0.9009	H	0.96333	3.805	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98054	1.0389	10	0.87932	D	0	.	17.4003	0.87458	0.0:1.0:0.0:0.0	.	140;264	Q59FX7;O75452	.;RDH16_HUMAN	M	264	ENSP00000381206:V264M	ENSP00000353980:V140M	V	-	1	0	RDH16	55632244	1.000000	0.71417	0.991000	0.47740	0.071000	0.16799	5.691000	0.68249	2.641000	0.89580	0.561000	0.74099	GTG		0.498	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708	
ZBTB39	9880	broad.mit.edu	37	12	57398064	57398064	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57398064T>C	ENST00000300101.2	-	2	723	c.638A>G	c.(637-639)gAc>gGc	p.D213G		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D213G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AGCAGGGGTGTCATGGTCTTC	0.582																																					p.D213G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A638G	12						.						126.0	109.0	115.0					12																	57398064		2203	4300	6503	55684331	SO:0001583	missense	9880	exon2			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.638A>G	12.37:g.57398064T>C	ENSP00000300101:p.Asp213Gly		55684331	NM_014830	A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	T	1.601	-0.526510	0.04141	.	.	ENSG00000166860	ENST00000300101	T	0.08984	3.03	5.92	5.92	0.95590	.	0.492133	0.19030	N	0.124569	T	0.06371	0.0164	N	0.19112	0.55	0.30925	N	0.727584	B	0.19200	0.034	B	0.19391	0.025	T	0.07309	-1.0779	10	0.42905	T	0.14	-13.0511	8.7854	0.34818	0.0:0.083:0.0:0.917	.	213	O15060	ZBT39_HUMAN	G	213	ENSP00000300101:D213G	ENSP00000300101:D213G	D	-	2	0	ZBTB39	55684331	0.457000	0.25752	0.239000	0.24122	0.284000	0.27059	1.434000	0.34958	2.263000	0.75096	0.533000	0.62120	GAC		0.582	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830	
NAB2	4665	broad.mit.edu	37	12	57485739	57485739	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57485739C>T	ENST00000300131.3	+	2	1293	c.915C>T	c.(913-915)ttC>ttT	p.F305F	NAB2_ENST00000342556.6_Silent_p.F305F|NAB2_ENST00000357680.4_Silent_p.F305F	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	305	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F305F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGGCCGTTTCGACTCTAAGC	0.562																																					p.F305F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915T	12						.						69.0	70.0	70.0					12																	57485739		2203	4300	6503	55772006	SO:0001819	synonymous_variant	4665	exon2			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.915C>T	12.37:g.57485739C>T			55772006	NM_005967	B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	CCDS8930.1																																																																																				0.562	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967	
GLI1	2735	broad.mit.edu	37	12	57861838	57861838	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57861838G>A	ENST00000228682.2	+	10	1230	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	GLI1_ENST00000546141.1_Missense_Mutation_p.R339Q|GLI1_ENST00000543426.1_Missense_Mutation_p.R252Q	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	380					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.R380Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGCTCGCTGCGAAAACATGTC	0.552																																					p.R252Q	Pancreas(157;841 1936 10503 41495 50368)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755A	12						.						96.0	73.0	81.0					12																	57861838		2203	4300	6503	56148105	SO:0001583	missense	2735	exon8				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1139G>A	12.37:g.57861838G>A	ENSP00000228682:p.Arg380Gln		56148105	NM_001160045	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767203	0.90020	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.53	3.64	0.41730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000459	T	0.45054	0.1323	L	0.28054	0.825	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.46569	-0.9182	10	0.87932	D	0	.	11.9141	0.52755	0.0869:0.0:0.9131:0.0	.	380	P08151	GLI1_HUMAN	Q	252;380;339;339;252	ENSP00000437607:R252Q;ENSP00000228682:R380Q;ENSP00000441006:R339Q;ENSP00000434408:R339Q	ENSP00000228682:R380Q	R	+	2	0	GLI1	56148105	1.000000	0.71417	0.869000	0.34112	0.892000	0.51952	9.595000	0.98260	1.271000	0.44313	-0.258000	0.10820	CGA		0.552	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
MARS	4141	broad.mit.edu	37	12	57894175	57894175	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57894175G>A	ENST00000262027.5	+	10	1297	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.R154Q	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	388					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.R388Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GAGCAACTGCGATGTGAGCAC	0.562																																					p.R388Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1163A	12						.						255.0	207.0	223.0					12																	57894175		2203	4300	6503	56180442	SO:0001583	missense	4141	exon10			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1163G>A	12.37:g.57894175G>A	ENSP00000262027:p.Arg388Gln		56180442	NM_004990	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178392|3.178392	0.57692|0.57692	.|.	.|.	ENSG00000166986|ENSG00000166986	ENST00000552371|ENST00000262027;ENST00000315473;ENST00000548944	.|T;T	.|0.41758	.|1.56;0.99	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Aminoacyl-tRNA synthetase, class I (M) (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34513|0.34513	0.0900|0.0900	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.22851	.|0.066;0.057;0.076	.|B;B;B	.|0.26094	.|0.041;0.041;0.066	T|T	0.16100|0.16100	-1.0414|-1.0414	5|10	.|0.62326	.|D	.|0.03	-20.7497|-20.7497	12.368|12.368	0.55240|0.55240	0.0818:0.0:0.9182:0.0|0.0818:0.0:0.9182:0.0	.|.	.|154;261;388	.|A6NC17;B4E0E9;P56192	.|.;.;SYMC_HUMAN	N|Q	221|388;154;12	.|ENSP00000262027:R388Q;ENSP00000314653:R154Q	.|ENSP00000262027:R388Q	D|R	+|+	1|2	0|0	MARS|MARS	56180442|56180442	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	2.929000|2.929000	0.48916|0.48916	2.667000|2.667000	0.90743|0.90743	0.563000|0.563000	0.77884|0.77884	GAT|CGA		0.562	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
MBD6	114785	broad.mit.edu	37	12	57919829	57919829	+	Missense_Mutation	SNP	C	C	T	rs77189304	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57919829C>T	ENST00000355673.3	+	6	1434	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	MBD6_ENST00000431731.2_Missense_Mutation_p.R360C	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	360	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R360C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCATCACTTCGTCCCTCTCA	0.647													C|||	20	0.00399361	0.0151	0.0	5008	,	,		12867	0.0		0.0	False		,,,				2504	0.0				p.R360C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1078T	12						.	C	CYS/ARG	60,4346	56.8+/-93.2	0,60,2143	57.0	58.0	57.0		1078	3.3	1.0	12	dbSNP_131	57	0,8600		0,0,4300	yes	missense	MBD6	NM_052897.3	180	0,60,6443	TT,TC,CC		0.0,1.3618,0.4613	benign	360/1004	57919829	60,12946	2203	4300	6503	56206096	SO:0001583	missense	114785	exon6			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1078C>T	12.37:g.57919829C>T	ENSP00000347896:p.Arg360Cys		56206096	NM_052897	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	c	14.14	2.445175	0.43429	0.013618	0.0	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	4.24	3.34	0.38264	.	1.160630	0.06579	N	0.749987	T	0.25082	0.0609	N	0.08118	0	0.45899	D	0.998743	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.04781	-1.0927	8	.	.	.	0.3833	9.5373	0.39231	0.0:0.8983:0.0:0.1017	.	360;360	Q6P0P0;Q96DN6	.;MBD6_HUMAN	C	360	.	.	R	+	1	0	MBD6	56206096	0.683000	0.27633	1.000000	0.80357	0.996000	0.88848	1.123000	0.31308	1.116000	0.41820	0.556000	0.70494	CGT		0.647	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1		
MBD6	114785	broad.mit.edu	37	12	57920148	57920148	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57920148G>A	ENST00000355673.3	+	6	1753	c.1397G>A	c.(1396-1398)aGt>aAt	p.S466N	MBD6_ENST00000431731.2_Missense_Mutation_p.S466N	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	466	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S466N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GGGACCACCAGTGGCAGCCTC	0.612																																					p.S466N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1397A	12						.						20.0	25.0	23.0					12																	57920148		2192	4295	6487	56206415	SO:0001583	missense	114785	exon6			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1397G>A	12.37:g.57920148G>A	ENSP00000347896:p.Ser466Asn		56206415	NM_052897	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	g	13.83	2.355441	0.41700	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000552659	.	.	.	3.9	3.9	0.45041	.	0.113531	0.39407	N	0.001366	T	0.35566	0.0936	N	0.08118	0	0.27413	N	0.954524	P;P	0.51449	0.945;0.945	D;D	0.63597	0.916;0.916	T	0.17623	-1.0363	9	0.72032	D	0.01	-2.8278	11.5793	0.50881	0.0:0.0:1.0:0.0	.	466;466	Q6P0P0;Q96DN6	.;MBD6_HUMAN	N	466;466;140	.	ENSP00000347896:S466N	S	+	2	0	MBD6	56206415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.007000	0.49536	2.171000	0.68590	0.556000	0.70494	AGT		0.612	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1		
DCTN2	10540	broad.mit.edu	37	12	57939811	57939811	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:57939811C>T	ENST00000548249.1	-	2	372	c.105G>A	c.(103-105)gcG>gcA	p.A35A	DCTN2_ENST00000434715.3_Splice_Site_p.A35A|DCTN2_ENST00000543672.1_Splice_Site_p.A35A	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	35					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.A35A(2)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						ACATTCTTACCGCATCGAACT	0.537																																					p.A35A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G105A	12						.						138.0	141.0	140.0					12																	57939811		2109	4229	6338	56226078	SO:0001630	splice_region_variant	10540	exon2			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.105+1G>A	12.37:g.57939811C>T			56226078	NM_006400	B2RBK5|Q86YN2|Q9BW17	Silent	SNP	ENST00000548249.1	37	CCDS58245.1																																																																																				0.537	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400	Silent
LRIG3	121227	broad.mit.edu	37	12	59274637	59274637	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:59274637C>T	ENST00000320743.3	-	13	1813	c.1527G>A	c.(1525-1527)tcG>tcA	p.S509S	LRIG3_ENST00000379141.4_Silent_p.S449S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	509	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S509S(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTTTTATTGCCGACTGTGTTT	0.428			T	ROS1	NSCLC																																p.S509S			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1527A	12						.						183.0	188.0	187.0					12																	59274637		2203	4300	6503	57560904	SO:0001819	synonymous_variant	121227	exon13			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1527G>A	12.37:g.59274637C>T			57560904	NM_153377	Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	CCDS8960.1																																																																																				0.428	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
SLC16A7	9194	broad.mit.edu	37	12	60169191	60169191	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:60169191C>T	ENST00000261187.4	+	4	1279	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	SLC16A7_ENST00000543448.1_Missense_Mutation_p.S273F|SLC16A7_ENST00000547379.1_Missense_Mutation_p.S372F|SLC16A7_ENST00000552432.1_Missense_Mutation_p.S372F|SLC16A7_ENST00000552024.1_Missense_Mutation_p.S372F	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	372					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.S372F(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	CCAAGATTTTCCAGTGCCGTC	0.458																																					p.S372F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1115T	12						.						118.0	108.0	112.0					12																	60169191		2203	4300	6503	58455458	SO:0001583	missense	9194	exon4			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1115C>T	12.37:g.60169191C>T	ENSP00000261187:p.Ser372Phe		58455458	NM_004731	Q8NEM3|Q9UPB3	Missense_Mutation	SNP	ENST00000261187.4	37	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542318	0.65198	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31	5.77	5.77	0.91146	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84563	0.0651	9	.	.	.	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	372	O60669	MOT2_HUMAN	F	372;372;372;372;372;273	ENSP00000449547:S372F;ENSP00000448071:S372F;ENSP00000448742:S372F;ENSP00000446722:S372F;ENSP00000261187:S372F;ENSP00000443731:S273F	.	S	+	2	0	SLC16A7	58455458	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	TCC		0.458	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731	
USP15	9958	broad.mit.edu	37	12	62777896	62777896	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:62777896G>A	ENST00000280377.5	+	11	1344	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	USP15_ENST00000353364.3_Missense_Mutation_p.R400Q|USP15_ENST00000393654.3_Missense_Mutation_p.R404Q	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	429	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R400Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CATTTAAAACGAAATGATTCT	0.328																																					p.R400Q	Melanoma(181;615 2041 39364 49691 50001)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1199A	12						.						116.0	113.0	114.0					12																	62777896		2203	4300	6503	61064163	SO:0001583	missense	9958	exon10			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1286G>A	12.37:g.62777896G>A	ENSP00000280377:p.Arg429Gln		61064163	NM_006313	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425287	0.96131	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.32272	1.46;1.46;1.46	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.048641	0.85682	D	0.000000	T	0.55609	0.1931	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.52328	-0.8590	9	.	.	.	-17.6554	18.8461	0.92208	0.0:0.0:1.0:0.0	.	429;400	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	Q	400;429;404	ENSP00000258123:R400Q;ENSP00000280377:R429Q;ENSP00000377264:R404Q	.	R	+	2	0	USP15	61064163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.690000	0.91761	0.655000	0.94253	CGA		0.328	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313	
MON2	23041	broad.mit.edu	37	12	62938732	62938732	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:62938732T>C	ENST00000393632.2	+	21	2912	c.2521T>C	c.(2521-2523)Tct>Cct	p.S841P	MON2_ENST00000280379.6_Missense_Mutation_p.S842P|RNU6-399P_ENST00000365164.1_RNA|MON2_ENST00000552115.1_Missense_Mutation_p.S841P|MON2_ENST00000393630.3_Missense_Mutation_p.S842P|MON2_ENST00000393629.2_Missense_Mutation_p.S841P|MON2_ENST00000552738.1_Missense_Mutation_p.S818P|MON2_ENST00000546600.1_Missense_Mutation_p.S841P	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	841					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.S841P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGCTTTAACTTCTCTTATTAA	0.318																																					p.S841P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2521C	12						.						64.0	65.0	65.0					12																	62938732		2203	4300	6503	61224999	SO:0001583	missense	23041	exon21				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2521T>C	12.37:g.62938732T>C	ENSP00000377252:p.Ser841Pro		61224999	NM_015026	A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373317	0.61624	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;1.41	5.77	5.77	0.91146	.	0.070600	0.64402	D	0.000015	T	0.67496	0.2899	L	0.48642	1.525	0.80722	D	1	B;P;P;P	0.44195	0.303;0.725;0.725;0.828	B;P;P;P	0.47299	0.192;0.474;0.543;0.474	T	0.66126	-0.6001	9	.	.	.	-14.3996	16.0885	0.81076	0.0:0.0:0.0:1.0	.	841;818;841;841	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	P	841;842;842;841;818;841;841	ENSP00000377252:S841P;ENSP00000377250:S842P;ENSP00000280379:S842P;ENSP00000447407:S841P;ENSP00000449215:S818P;ENSP00000377249:S841P;ENSP00000446635:S841P	.	S	+	1	0	MON2	61224999	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.412000	0.73303	2.192000	0.70111	0.533000	0.62120	TCT		0.318	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026	
DPY19L2	283417	broad.mit.edu	37	12	64020267	64020267	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:64020267G>T	ENST00000324472.4	-	7	1026	c.843C>A	c.(841-843)ttC>ttA	p.F281L	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	281					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F281L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGTTGAAAAAGAAGCACAGTA	0.313																																					p.F281L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C843A	12						.						10.0	13.0	12.0					12																	64020267		2089	4221	6310	62306534	SO:0001583	missense	283417	exon7				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.843C>A	12.37:g.64020267G>T	ENSP00000315988:p.Phe281Leu		62306534	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863416	0.32884	.	.	ENSG00000177990	ENST00000324472	T	0.60171	0.21	2.65	2.65	0.31530	.	0.236593	0.43110	D	0.000616	T	0.50120	0.1597	L	0.43757	1.38	0.80722	D	1	B	0.22080	0.064	B	0.34418	0.182	T	0.43621	-0.9380	9	.	.	.	.	11.0772	0.48038	0.0:0.0:1.0:0.0	.	281	Q6NUT2	D19L2_HUMAN	L	281	ENSP00000315988:F281L	.	F	-	3	2	DPY19L2	62306534	1.000000	0.71417	0.995000	0.50966	0.879000	0.50718	2.720000	0.47252	1.477000	0.48234	0.398000	0.26397	TTC		0.313	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	
DPY19L2	283417	broad.mit.edu	37	12	64057543	64057543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:64057543C>A	ENST00000324472.4	-	3	628	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	149					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.E149*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTAACCATTTCAGTGCGAAAA	0.333																																					p.E149X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G445T	12						.						58.0	55.0	56.0					12																	64057543		2203	4299	6502	62343810	SO:0001587	stop_gained	283417	exon3				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.445G>T	12.37:g.64057543C>A	ENSP00000315988:p.Glu149*		62343810	NM_173812	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Nonsense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	34	5.331474	0.95733	.	.	ENSG00000177990	ENST00000324472;ENST00000538147	.	.	.	2.5	2.5	0.30297	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7323	0.46104	0.0:1.0:0.0:0.0	.	.	.	.	X	149;6	.	.	E	-	1	0	DPY19L2	62343810	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	6.967000	0.76079	1.389000	0.46526	0.184000	0.17185	GAA		0.333	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	
XPOT	11260	broad.mit.edu	37	12	64819643	64819643	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:64819643C>T	ENST00000332707.5	+	15	2150	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	541	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.R541W(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGCAAAAGTTCGGAGCAGGAC	0.363																																					p.R541W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1621T	12						.						162.0	174.0	170.0					12																	64819643		2203	4300	6503	63105910	SO:0001583	missense	11260	exon15			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1621C>T	12.37:g.64819643C>T	ENSP00000327821:p.Arg541Trp		63105910	NM_007235	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301803	0.81136	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.75938	-0.98;-0.98	4.35	3.44	0.39384	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87264	0.2281	9	.	.	.	.	14.2777	0.66191	0.1504:0.8496:0.0:0.0	.	541	O43592	XPOT_HUMAN	W	541;63	ENSP00000327821:R541W;ENSP00000444345:R63W	.	R	+	1	2	XPOT	63105910	0.989000	0.36119	0.964000	0.40570	0.985000	0.73830	2.607000	0.46300	1.118000	0.41863	0.591000	0.81541	CGG		0.363	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
XPOT	11260	broad.mit.edu	37	12	64828619	64828619	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:64828619A>G	ENST00000332707.5	+	21	3144	c.2615A>G	c.(2614-2616)cAc>cGc	p.H872R		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	872	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.H872R(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTTTATAAGCACATTGTCCCC	0.363																																					p.H872R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2615G	12						.						154.0	149.0	150.0					12																	64828619		2203	4300	6503	63114886	SO:0001583	missense	11260	exon21			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2615A>G	12.37:g.64828619A>G	ENSP00000327821:p.His872Arg		63114886	NM_007235	A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134933	0.56828	.	.	ENSG00000184575	ENST00000332707	T	0.18960	2.18	5.29	5.29	0.74685	.	0.089147	0.85682	D	0.000000	T	0.10766	0.0263	N	0.05280	-0.08	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.19484	-1.0304	9	.	.	.	.	14.1	0.65049	1.0:0.0:0.0:0.0	.	872	O43592	XPOT_HUMAN	R	872	ENSP00000327821:H872R	.	H	+	2	0	XPOT	63114886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.384000	0.79751	2.151000	0.67156	0.454000	0.30748	CAC		0.363	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
LEMD3	23592	broad.mit.edu	37	12	65634753	65634753	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:65634753C>T	ENST00000308330.2	+	9	2217	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	731	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.R731C(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTCTAGAGTTCGCACGGAAAC	0.403																																					p.R731C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2191T	12						.						145.0	132.0	136.0					12																	65634753		2203	4300	6503	63921020	SO:0001583	missense	23592	exon9			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2191C>T	12.37:g.65634753C>T	ENSP00000308369:p.Arg731Cys		63921020	NM_014319	Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613893	0.87359	.	.	ENSG00000174106	ENST00000308330	T	0.56444	0.46	5.3	5.3	0.74995	Inner nuclear membrane protein MAN1 (1);	0.056775	0.64402	D	0.000001	T	0.74168	0.3681	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.74529	-0.3635	9	.	.	.	-9.5496	19.33	0.94281	0.0:1.0:0.0:0.0	.	731	Q9Y2U8	MAN1_HUMAN	C	731	ENSP00000308369:R731C	.	R	+	1	0	LEMD3	63921020	1.000000	0.71417	0.996000	0.52242	0.662000	0.39071	5.901000	0.69861	2.637000	0.89404	0.585000	0.79938	CGC		0.403	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
LEMD3	23592	broad.mit.edu	37	12	65637243	65637243	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:65637243C>T	ENST00000308330.2	+	10	2407	c.2381C>T	c.(2380-2382)cCc>cTc	p.P794L		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	794	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.P794L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		ATGTTTGATCCCGTTATGTAA	0.318																																					p.P794L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2381T	12						.						126.0	125.0	125.0					12																	65637243		2202	4299	6501	63923510	SO:0001583	missense	23592	exon10			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2381C>T	12.37:g.65637243C>T	ENSP00000308369:p.Pro794Leu		63923510	NM_014319	Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882884	0.72410	.	.	ENSG00000174106	ENST00000308330	T	0.53206	0.63	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.69358	2.11	0.80722	D	1	B	0.25955	0.138	B	0.30646	0.118	T	0.45571	-0.9252	9	.	.	.	-7.9942	19.8737	0.96861	0.0:1.0:0.0:0.0	.	794	Q9Y2U8	MAN1_HUMAN	L	794	ENSP00000308369:P794L	.	P	+	2	0	LEMD3	63923510	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.260000	0.78391	2.785000	0.95823	0.655000	0.94253	CCC		0.318	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
MSRB3	253827	broad.mit.edu	37	12	65857005	65857005	+	Missense_Mutation	SNP	C	C	T	rs267603630		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:65857005C>T	ENST00000355192.3	+	6	608	c.482C>T	c.(481-483)tCg>tTg	p.S161L	MSRB3_ENST00000308259.5_Missense_Mutation_p.S154L|MSRB3_ENST00000535664.1_Missense_Mutation_p.S154L	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	161					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.S161L(1)|p.S154L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGCATAAATTCGGCTGCCTTG	0.547																																					p.S154L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C461T	12						.						147.0	130.0	136.0					12																	65857005		2203	4300	6503	64143272	SO:0001583	missense	253827	exon7			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.482C>T	12.37:g.65857005C>T	ENSP00000347324:p.Ser161Leu		64143272	NM_001193461	B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393034	0.96009	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664;ENST00000535239	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.76	5.76	0.90799	Mss4-like (1);Methionine sulphoxide reductase B (4);	0.000000	0.85682	D	0.000000	D	0.95310	0.8478	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96448	0.9332	9	.	.	.	-2.9871	20.3325	0.98724	0.0:1.0:0.0:0.0	.	161;154	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	L	161;154;154;154	ENSP00000347324:S161L;ENSP00000312274:S154L;ENSP00000441650:S154L;ENSP00000445843:S154L	.	S	+	2	0	MSRB3	64143272	1.000000	0.71417	0.196000	0.23383	0.071000	0.16799	6.792000	0.75125	2.890000	0.99128	0.655000	0.94253	TCG		0.547	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080	
IRAK3	11213	broad.mit.edu	37	12	66622063	66622063	+	Missense_Mutation	SNP	G	G	A	rs371798024		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:66622063G>A	ENST00000261233.4	+	8	1221	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	IRAK3_ENST00000457197.2_Missense_Mutation_p.R206Q	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.R267Q(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TGGCACATTCGAATCGGTATA	0.413																																					p.R206Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G617A	12						.						201.0	182.0	189.0					12																	66622063		2203	4300	6503	64908330	SO:0001583	missense	11213	exon7			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.800G>A	12.37:g.66622063G>A	ENSP00000261233:p.Arg267Gln		64908330	NM_001142523		Missense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630710	0.67015	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.65364	-0.15;-0.15	5.88	5.88	0.94601	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.87378	0.6162	H	0.98426	4.23	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91551	0.5257	9	.	.	.	-9.8002	15.7406	0.77891	0.0:0.0:1.0:0.0	.	206;267	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	Q	267;206	ENSP00000261233:R267Q;ENSP00000409852:R206Q	.	R	+	2	0	IRAK3	64908330	0.998000	0.40836	1.000000	0.80357	0.024000	0.10985	3.811000	0.55620	2.797000	0.96272	0.561000	0.74099	CGA		0.413	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		
GRIP1	23426	broad.mit.edu	37	12	66849331	66849331	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:66849331A>C	ENST00000398016.3	-	10	1124	c.1056T>G	c.(1054-1056)tcT>tcG	p.S352S	GRIP1_ENST00000359742.4_Silent_p.S404S|GRIP1_ENST00000286445.7_Silent_p.S404S	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.S352S(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AGAAGGATGAAGACACCAAAG	0.532																																					p.S352S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1056G	12						.						104.0	107.0	106.0					12																	66849331		2085	4214	6299	65135598	SO:0001819	synonymous_variant	23426	exon10			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1056T>G	12.37:g.66849331A>C			65135598	NM_001178074	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.517|9.517	1.107199|1.107199	0.20714|0.20714	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000543172|ENST00000538164	.|.	.|.	.|.	5.06|5.06	2.54|2.54	0.30619|0.30619	.|.	.|.	.|.	.|.	.|.	T|T	0.54481|0.54481	0.1861|0.1861	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.48340|0.48340	-0.9044|-0.9044	4|4	.|.	.|.	.|.	-4.1062|-4.1062	6.214|6.214	0.20646|0.20646	0.7775:0.0:0.08:0.1425|0.7775:0.0:0.08:0.1425	.|.	.|.	.|.	.|.	V|R	172|219	.|.	.|.	F|L	-|-	1|2	0|0	GRIP1|GRIP1	65135598|65135598	0.522000|0.522000	0.26266|0.26266	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	-0.256000|-0.256000	0.08757|0.08757	0.895000|0.895000	0.36342|0.36342	0.379000|0.379000	0.24179|0.24179	TTC|CTT		0.532	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
CAND1	55832	broad.mit.edu	37	12	67699651	67699651	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:67699651C>A	ENST00000545606.1	+	10	2640	c.2203C>A	c.(2203-2205)Ctc>Atc	p.L735I		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	735					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.L735I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGGATCCATTCTCAATGAACT	0.428																																					p.L735I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2203A	12						.						130.0	128.0	128.0					12																	67699651		2203	4300	6503	65985918	SO:0001583	missense	55832	exon10				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2203C>A	12.37:g.67699651C>A	ENSP00000442318:p.Leu735Ile		65985918	NM_018448	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537767	0.65085	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.69435	-0.4;-0.4	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80879	0.4708	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.85130	0.972;0.997	T	0.78720	-0.2094	9	.	.	.	-5.6863	19.8022	0.96513	0.0:1.0:0.0:0.0	.	567;735	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	I	735;735;275	ENSP00000442318:L735I;ENSP00000444089:L275I	.	L	+	1	0	CAND1	65985918	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.622000	0.67750	2.674000	0.91012	0.650000	0.86243	CTC		0.428	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448	
IFNG	3458	broad.mit.edu	37	12	68551714	68551714	+	Silent	SNP	G	G	A	rs572179856		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:68551714G>A	ENST00000229135.3	-	3	476	c.345C>T	c.(343-345)ttC>ttT	p.F115F	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	115					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)	p.F115F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	TCAGCTTTTCGAAGTCATCTC	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		19952	0.001		0.0	False		,,,				2504	0.0				p.F115F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C345T	12						.						161.0	157.0	158.0					12																	68551714		2203	4300	6503	66837981	SO:0001819	synonymous_variant	3458	exon3				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.345C>T	12.37:g.68551714G>A			66837981	NM_000619	B5BU88|Q53ZV4	Silent	SNP	ENST00000229135.3	37	CCDS8980.1																																																																																				0.368	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1		
IL26	55801	broad.mit.edu	37	12	68619266	68619266	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:68619266T>G	ENST00000229134.4	-	2	250	c.186A>C	c.(184-186)aaA>aaC	p.K62N	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	62					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.K62N(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATCGTATATTTTTTATGCGGT	0.294																																					p.K62N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A186C	12						.						51.0	54.0	53.0					12																	68619266		2198	4299	6497	66905533	SO:0001583	missense	55801	exon2			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.186A>C	12.37:g.68619266T>G	ENSP00000229134:p.Lys62Asn		66905533	NM_018402		Missense_Mutation	SNP	ENST00000229134.4	37	CCDS8981.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023381	0.54683	.	.	ENSG00000111536	ENST00000229134	T	0.62941	-0.01	5.08	5.08	0.68730	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000007	T	0.70736	0.3258	L	0.54323	1.7	0.27373	N	0.955642	D	0.69078	0.997	D	0.72982	0.979	T	0.63919	-0.6528	9	.	.	.	-10.7622	7.9271	0.29880	0.0:0.0938:0.0:0.9062	.	62	Q9NPH9	IL26_HUMAN	N	62	ENSP00000229134:K62N	.	K	-	3	2	IL26	66905533	1.000000	0.71417	0.639000	0.29394	0.890000	0.51754	1.851000	0.39338	2.051000	0.60960	0.379000	0.24179	AAA		0.294	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402	
MDM2	4193	broad.mit.edu	37	12	69233173	69233173	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:69233173A>C	ENST00000350057.5	+	9	945	c.945A>C	c.(943-945)gaA>gaC	p.E315D	MDM2_ENST00000258148.7_Missense_Mutation_p.E291D|MDM2_ENST00000540827.1_Missense_Mutation_p.E145D|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000356290.4_Missense_Mutation_p.E170D|MDM2_ENST00000428863.2_Missense_Mutation_p.E119D|MDM2_ENST00000393410.1_Missense_Mutation_p.E92D|MDM2_ENST00000360430.2_Missense_Mutation_p.E145D|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.E285D|MDM2_ENST00000393413.3_Missense_Mutation_p.E67D|MDM2_ENST00000299252.4_Missense_Mutation_p.E170D|MDM2_ENST00000393412.3_Missense_Mutation_p.E67D|MDM2_ENST00000462284.1_Missense_Mutation_p.E346D|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000348801.2_Missense_Mutation_p.E114D|MDM2_ENST00000517852.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	340	Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|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)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E340D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATAAAGGGGAAATCTCTGAGA	0.418			A		"""sarcoma, glioma, colorectal, other"""																																p.E346D			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1038C	12						.						109.0	99.0	102.0					12																	69233173		1839	4080	5919	67519440	SO:0001583	missense	4193	exon11				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.945A>C	12.37:g.69233173A>C	ENSP00000266624:p.Glu315Asp		67519440	NM_002392	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37		.	.	.	.	.	.	.	.	.	.	A	0.034	-1.315843	0.01331	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000393412;ENST00000311420;ENST00000258148;ENST00000393413;ENST00000350057;ENST00000393410;ENST00000299252;ENST00000360430;ENST00000348801	T;T;T;T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	3.95	-1.61	0.08399	.	1.067790	0.07072	N	0.835659	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.11235	0.0;0.001;0.002;0.001;0.004;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B;B	0.08055	0.001;0.002;0.003;0.001;0.003;0.0;0.001;0.003;0.001	T	0.27123	-1.0083	9	.	.	.	-4.1823	1.0961	0.01673	0.2989:0.2911:0.0916:0.3184	.	295;119;67;92;170;340;291;145;346	Q00987-9;Q00987-3;Q00987-4;Q9H4C5;Q00987-5;Q00987;G3XA89;Q00987-2;Q00987-11	.;.;.;.;.;MDM2_HUMAN;.;.;.	D	346;295;285;170;145;119;67;301;291;67;315;92;170;145;114	ENSP00000417281:E346D;ENSP00000258149:E285D;ENSP00000348637:E170D;ENSP00000440932:E145D;ENSP00000410694:E119D;ENSP00000377064:E67D;ENSP00000258148:E291D;ENSP00000377065:E67D;ENSP00000266624:E315D;ENSP00000377062:E92D;ENSP00000299252:E170D;ENSP00000353611:E145D;ENSP00000335096:E114D	.	E	+	3	2	MDM2	67519440	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-2.528000	0.00945	-0.278000	0.09180	-1.613000	0.00800	GAA		0.418	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880	
MDM2	4193	broad.mit.edu	37	12	69233618	69233618	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:69233618T>C	ENST00000350057.5	+	9	1390	c.1390T>C	c.(1390-1392)Tat>Cat	p.Y464H	MDM2_ENST00000258148.7_Missense_Mutation_p.Y440H|MDM2_ENST00000540827.1_Missense_Mutation_p.Y294H|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000356290.4_Missense_Mutation_p.Y319H|MDM2_ENST00000428863.2_Missense_Mutation_p.Y268H|MDM2_ENST00000393410.1_Missense_Mutation_p.Y241H|MDM2_ENST00000360430.2_Missense_Mutation_p.Y294H|MDM2_ENST00000545204.1_3'UTR|MDM2_ENST00000258149.5_Missense_Mutation_p.Y434H|MDM2_ENST00000393413.3_Missense_Mutation_p.Y216H|MDM2_ENST00000299252.4_Missense_Mutation_p.Y319H|MDM2_ENST00000393412.3_Missense_Mutation_p.Y216H|MDM2_ENST00000462284.1_Missense_Mutation_p.Y495H|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000348801.2_Missense_Mutation_p.Y263H|MDM2_ENST00000517852.1_Missense_Mutation_p.Y128H			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	489	Necessary for interaction with USP2.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|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)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y489H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGTGCTAACTTATTTCCCCTA	0.343			A		"""sarcoma, glioma, colorectal, other"""																																p.Y495H			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"""M, O, E, L"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1483C	12						.						71.0	65.0	67.0					12																	69233618		1833	4093	5926	67519885	SO:0001583	missense	4193	exon11				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.1390T>C	12.37:g.69233618T>C	ENSP00000266624:p.Tyr464His		67519885	NM_002392	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37		.	.	.	.	.	.	.	.	.	.	T	23.0	4.362464	0.82353	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000393412;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000393413;ENST00000350057;ENST00000393410;ENST00000299252;ENST00000360430;ENST00000517852;ENST00000348801	T;T;T;T;T;T;T;T;T;T;T;T;T	0.59772	0.84;0.26;0.24;0.31;0.32;0.34;0.25;0.34;0.85;0.31;0.24;0.31;0.31	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.77438	0.4130	M	0.83774	2.66	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;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.997;0.994;0.994;0.999;0.996;0.999	T	0.80046	-0.1546	9	.	.	.	-7.317	14.8658	0.70416	0.0:0.0:0.0:1.0	.	444;268;216;241;319;489;440;294;128;495	Q00987-9;Q00987-3;Q00987-4;Q9H4C5;Q00987-5;Q00987;G3XA89;Q00987-2;Q9H4C3;Q00987-11	.;.;.;.;.;MDM2_HUMAN;.;.;.;.	H	495;444;434;319;294;268;216;157;450;440;216;464;241;319;294;128;263	ENSP00000417281:Y495H;ENSP00000258149:Y434H;ENSP00000348637:Y319H;ENSP00000440932:Y294H;ENSP00000410694:Y268H;ENSP00000377064:Y216H;ENSP00000258148:Y440H;ENSP00000377065:Y216H;ENSP00000266624:Y464H;ENSP00000377062:Y241H;ENSP00000299252:Y319H;ENSP00000353611:Y294H;ENSP00000335096:Y263H	.	Y	+	1	0	MDM2	67519885	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.343000	0.79319	2.166000	0.68216	0.459000	0.35465	TAT		0.343	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880	
TSPAN8	7103	broad.mit.edu	37	12	71523115	71523115	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:71523115A>G	ENST00000393330.2	-	11	1208	c.656T>C	c.(655-657)aTt>aCt	p.I219T	TSPAN8_ENST00000247829.3_Missense_Mutation_p.I219T|TSPAN8_ENST00000546561.1_Missense_Mutation_p.I219T|TSPAN8_ENST00000552128.1_Missense_Mutation_p.I136T			P19075	TSN8_HUMAN	tetraspanin 8	219					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.I219T(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTGTACCTCAATAACTGCCAG	0.264																																					p.I219T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T656C	12						.						54.0	56.0	55.0					12																	71523115		2198	4298	6496	69809382	SO:0001583	missense	7103	exon8			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.656T>C	12.37:g.71523115A>G	ENSP00000377003:p.Ile219Thr		69809382	NM_004616	B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536381	0.65085	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	5.77	5.77	0.91146	.	0.653256	0.16158	N	0.226902	D	0.85173	0.5636	M	0.74881	2.28	0.33530	D	0.593543	P	0.52577	0.954	P	0.51615	0.675	D	0.89463	0.3738	10	0.52906	T	0.07	.	12.7759	0.57448	1.0:0.0:0.0:0.0	.	219	P19075	TSN8_HUMAN	T	219;219;219;136	ENSP00000377003:I219T;ENSP00000247829:I219T;ENSP00000447160:I219T;ENSP00000449820:I136T	ENSP00000247829:I219T	I	-	2	0	TSPAN8	69809382	0.998000	0.40836	0.793000	0.32043	0.958000	0.62258	4.978000	0.63799	2.326000	0.78906	0.533000	0.62120	ATT		0.264	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616	
TRHDE	29953	broad.mit.edu	37	12	72863540	72863540	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:72863540C>A	ENST00000261180.4	+	4	1279	c.1183C>A	c.(1183-1185)Ctt>Att	p.L395I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	395					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L395I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTTCTAGATCTTTTAGCTGT	0.353																																					p.L395I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1183A	12						.						103.0	105.0	104.0					12																	72863540		2203	4300	6503	71149807	SO:0001583	missense	29953	exon4			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1183C>A	12.37:g.72863540C>A	ENSP00000261180:p.Leu395Ile		71149807	NM_013381	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475042	0.63737	.	.	ENSG00000072657	ENST00000261180	T	0.04917	3.53	5.87	5.87	0.94306	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	L	0.54908	1.71	0.80722	D	1	P	0.39535	0.677	B	0.40329	0.326	T	0.00852	-1.1540	10	0.66056	D	0.02	.	13.4085	0.60929	0.0:0.9284:0.0:0.0716	.	395	Q9UKU6	TRHDE_HUMAN	I	395	ENSP00000261180:L395I	ENSP00000261180:L395I	L	+	1	0	TRHDE	71149807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.050000	0.57404	2.785000	0.95823	0.650000	0.86243	CTT		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
E2F7	144455	broad.mit.edu	37	12	77449891	77449891	+	Missense_Mutation	SNP	C	C	T	rs149646617	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:77449891C>T	ENST00000322886.7	-	3	348	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	E2F7_ENST00000416496.2_Missense_Mutation_p.R38Q	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	38					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R38Q(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CATCCTTGATCGATCAACAAA	0.338																																					p.R38Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G113A	12						.						40.0	42.0	41.0					12																	77449891		2202	4297	6499	75974022	SO:0001583	missense	144455	exon3			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.113G>A	12.37:g.77449891C>T	ENSP00000323246:p.Arg38Gln		75974022	NM_203394	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830062	0.50845	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669;ENST00000547316	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.71	-0.81	0.10860	.	0.235442	0.42420	D	0.000715	D	0.88198	0.6372	M	0.62723	1.935	0.38623	D	0.951188	D;D	0.89917	1.0;1.0	D;P	0.64877	0.93;0.895	D	0.86468	0.1783	10	0.66056	D	0.02	-0.0252	10.9878	0.47532	0.3286:0.3529:0.3184:0.0	.	38;38	F8VSE7;Q96AV8	.;E2F7_HUMAN	Q	38	ENSP00000323246:R38Q;ENSP00000393639:R38Q;ENSP00000448245:R38Q;ENSP00000449033:R38Q	ENSP00000323246:R38Q	R	-	2	0	E2F7	75974022	0.049000	0.20398	0.016000	0.15963	0.418000	0.31294	0.316000	0.19469	-0.467000	0.06932	-0.961000	0.02630	CGA		0.338	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871	
MYF6	4618	broad.mit.edu	37	12	81102639	81102639	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:81102639C>T	ENST00000228641.3	+	3	851	c.629C>T	c.(628-630)tCg>tTg	p.S210L		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	210					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S210L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGTATTGATTCGTCAGCCTCG	0.542																																					p.S210L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C629T	12						.						174.0	152.0	159.0					12																	81102639		2203	4300	6503	79626770	SO:0001583	missense	4618	exon3				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.629C>T	12.37:g.81102639C>T	ENSP00000228641:p.Ser210Leu		79626770	NM_002469	B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579820	0.46006	.	.	ENSG00000111046	ENST00000228641	D	0.96716	-4.1	5.6	5.6	0.85130	.	0.387744	0.29544	N	0.011847	D	0.95040	0.8394	M	0.71036	2.16	0.49483	D	0.999792	P	0.36438	0.553	B	0.32342	0.144	D	0.94382	0.7605	10	0.39692	T	0.17	-30.0924	17.393	0.87437	0.0:1.0:0.0:0.0	.	210	P23409	MYF6_HUMAN	L	210	ENSP00000228641:S210L	ENSP00000228641:S210L	S	+	2	0	MYF6	79626770	1.000000	0.71417	0.105000	0.21289	0.555000	0.35460	6.709000	0.74665	2.638000	0.89438	0.591000	0.81541	TCG		0.542	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469	
ACSS3	79611	broad.mit.edu	37	12	81647354	81647354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:81647354C>T	ENST00000548058.1	+	15	2810	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.R633*|ACSS3_ENST00000548324.1_Nonsense_Mutation_p.R316*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	634						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.R634*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCTGCTTTTCGAAATGCAGT	0.428																																					p.R634X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)	c.C1900T	12						.						96.0	97.0	97.0					12																	81647354		2203	4300	6503	80171485	SO:0001587	stop_gained	79611	exon15				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1900C>T	12.37:g.81647354C>T	ENSP00000449535:p.Arg634*		80171485	NM_024560	Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	38	7.002967	0.97994	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	.	.	.	6.03	5.13	0.70059	.	0.120311	0.53938	D	0.000056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-5.1243	16.523	0.84322	0.1319:0.8681:0.0:0.0	.	.	.	.	X	634;633;316	.	ENSP00000261206:R633X	R	+	1	2	ACSS3	80171485	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.744000	0.55112	1.521000	0.48983	0.557000	0.71058	CGA		0.428	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560	
PPFIA2	8499	broad.mit.edu	37	12	82147877	82147877	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:82147877T>G	ENST00000549396.1	-	3	284	c.124A>C	c.(124-126)Agg>Cgg	p.R42R	PPFIA2_ENST00000549325.1_Silent_p.R42R|PPFIA2_ENST00000333447.7_Silent_p.R42R|PPFIA2_ENST00000550584.2_Silent_p.R42R|PPFIA2_ENST00000552948.1_Silent_p.R42R|PPFIA2_ENST00000548586.1_Silent_p.R42R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	42					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.R42R(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGACGATCCCTTTCATCTAGC	0.517																																					p.R42R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A124C	12						.						68.0	68.0	68.0					12																	82147877		1938	4142	6080	80672008	SO:0001819	synonymous_variant	8499	exon3			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.124A>C	12.37:g.82147877T>G			80672008	NM_003625	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	CCDS55857.1																																																																																				0.517	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
SLC6A15	55117	broad.mit.edu	37	12	85277792	85277792	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:85277792G>T	ENST00000266682.5	-	5	1143	c.602C>A	c.(601-603)tCt>tAt	p.S201Y	SLC6A15_ENST00000450363.3_Missense_Mutation_p.S201Y|SLC6A15_ENST00000552192.1_Missense_Mutation_p.S94Y|SLC6A15_ENST00000551388.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	201					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.S201Y(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GGTGGTGGCAGAACTTTGTTC	0.378																																					p.S201Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C602A	12						.						79.0	77.0	77.0					12																	85277792		2203	4300	6503	83801923	SO:0001583	missense	55117	exon5			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.602C>A	12.37:g.85277792G>T	ENSP00000266682:p.Ser201Tyr		83801923	NM_018057	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182410	0.94885	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000450363	T;T;T	0.78816	-1.21;-1.21;-1.21	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.94569	0.7769	10	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	201;201	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	Y	201;94;201	ENSP00000266682:S201Y;ENSP00000450145:S94Y;ENSP00000390706:S201Y	ENSP00000266682:S201Y	S	-	2	0	SLC6A15	83801923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.865000	0.98341	0.655000	0.94253	TCT		0.378	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767	
LRRIQ1	84125	broad.mit.edu	37	12	85450752	85450752	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:85450752C>T	ENST00000393217.2	+	8	2242	c.2181C>T	c.(2179-2181)tgC>tgT	p.C727C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	727								p.C727C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCATGACCTGCTGTGTATCAG	0.358																																					p.C727C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2181T	12						.						204.0	223.0	216.0					12																	85450752		2203	4297	6500	83974883	SO:0001819	synonymous_variant	84125	exon8			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2181C>T	12.37:g.85450752C>T			83974883	NM_032165	Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	CCDS41816.1																																																																																				0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85459097	85459097	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:85459097T>C	ENST00000393217.2	+	9	2510	c.2449T>C	c.(2449-2451)Tgt>Cgt	p.C817R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	817								p.C817R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTGGCAGAGTGTACAAATCT	0.393																																					p.C817R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2449C	12						.						149.0	140.0	143.0					12																	85459097		2203	4300	6503	83983228	SO:0001583	missense	84125	exon9			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2449T>C	12.37:g.85459097T>C	ENSP00000376910:p.Cys817Arg		83983228	NM_032165	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772434	0.69992	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.26518	1.73	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.63060	-0.6721	10	0.87932	D	0	.	14.3484	0.66682	0.0:0.0:0.0:1.0	.	817;792	Q96JM4;C9JI57	LRIQ1_HUMAN;.	R	817;792;817	ENSP00000376910:C817R	ENSP00000256007:C817R	C	+	1	0	LRRIQ1	83983228	1.000000	0.71417	0.996000	0.52242	0.791000	0.44710	6.656000	0.74396	2.133000	0.65898	0.477000	0.44152	TGT		0.393	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
LRRIQ1	84125	broad.mit.edu	37	12	85531700	85531700	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:85531700G>A	ENST00000393217.2	+	19	4343	c.4282G>A	c.(4282-4284)Gat>Aat	p.D1428N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1428								p.D1428N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAAGAATCCGATGAAGAATA	0.299																																					p.D1428N												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G4282A	12						.						97.0	91.0	93.0					12																	85531700		1790	4072	5862	84055831	SO:0001583	missense	84125	exon19			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4282G>A	12.37:g.85531700G>A	ENSP00000376910:p.Asp1428Asn		84055831	NM_001079910	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798127	0.50208	.	.	ENSG00000133640	ENST00000393217	T	0.55588	0.51	5.31	5.31	0.75309	.	.	.	.	.	T	0.36026	0.0952	N	0.14661	0.345	0.26080	N	0.981103	P	0.48640	0.913	B	0.33121	0.158	T	0.41980	-0.9478	9	0.66056	D	0.02	.	18.9862	0.92771	0.0:0.0:1.0:0.0	.	1428	Q96JM4	LRIQ1_HUMAN	N	1428	ENSP00000376910:D1428N	ENSP00000376910:D1428N	D	+	1	0	LRRIQ1	84055831	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	6.766000	0.74970	2.488000	0.83962	0.650000	0.86243	GAT		0.299	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
MGAT4C	25834	broad.mit.edu	37	12	86373822	86373822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:86373822G>A	ENST00000604798.1	-	8	1886	c.682C>T	c.(682-684)Cga>Tga	p.R228*	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.R257*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.R228*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.R228*			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	228					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R228*(2)|p.R228>?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTTGAACATCGAACATCATCT	0.348																																					p.R228X												.	.	3	Substitution - Nonsense(2)|Complex(1)	large_intestine(2)|ovary(1)	c.C682T	12						.						80.0	77.0	78.0					12																	86373822		2203	4300	6503	84897953	SO:0001587	stop_gained	25834	exon7				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.682C>T	12.37:g.86373822G>A	ENSP00000474896:p.Arg228*		84897953	NM_013244	B4DRH2|Q4G199|Q9UIU5	Nonsense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592725	0.28357	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	.	.	.	5.79	4.9	0.64082	.	0.071536	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.5256	13.9972	0.64409	0.0:0.0:0.7246:0.2754	.	.	.	.	X	228;257;228;228;228;228;228	.	ENSP00000331664:R228X	R	-	1	2	MGAT4C	84897953	1.000000	0.71417	0.093000	0.20910	0.004000	0.04260	4.667000	0.61561	1.428000	0.47296	-0.169000	0.13324	CGA		0.348	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
MGAT4C	25834	broad.mit.edu	37	12	86374176	86374176	+	Nonsense_Mutation	SNP	G	G	A	rs139777686		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:86374176G>A	ENST00000604798.1	-	8	1532	c.328C>T	c.(328-330)Cga>Tga	p.R110*	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.R110*|MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.R110*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.R139*|MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.R110*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.R110*			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	110					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R110*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCTTTTTTTCGCTTTACTGAA	0.338																																					p.R110X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C328T	12						.	G	stop/ARG	0,4406		0,0,2203	48.0	52.0	51.0		328	0.4	1.0	12	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	MGAT4C	NM_013244.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		110/479	86374176	1,13005	2203	4300	6503	84898307	SO:0001587	stop_gained	25834	exon7				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.328C>T	12.37:g.86374176G>A	ENSP00000474896:p.Arg110*		84898307	NM_013244	B4DRH2|Q4G199|Q9UIU5	Nonsense_Mutation	SNP	ENST00000604798.1	37	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747571	0.69533	0.0	1.16E-4	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	.	.	.	5.19	0.4	0.16331	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.56	15.8974	0.79344	0.0:0.0:0.4469:0.5531	.	.	.	.	X	110;139;110;110;110;110;110	.	ENSP00000331664:R110X	R	-	1	2	MGAT4C	84898307	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	0.921000	0.28718	0.219000	0.20840	0.591000	0.81541	CGA		0.338	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244	
C12orf50	160419	broad.mit.edu	37	12	88383074	88383074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:88383074C>A	ENST00000298699.2	-	8	847	c.667G>T	c.(667-669)Gaa>Taa	p.E223*	C12orf50_ENST00000550553.1_Nonsense_Mutation_p.E223*	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	223								p.E223*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGGTGATTTCTTTCTCTTCA	0.338																																					p.E223X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G667T	12						.						67.0	66.0	66.0					12																	88383074		2203	4300	6503	86907205	SO:0001587	stop_gained	160419	exon8			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.667G>T	12.37:g.88383074C>A	ENSP00000298699:p.Glu223*		86907205	NM_152589	Q6P674	Nonsense_Mutation	SNP	ENST00000298699.2	37	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	C	36	5.965847	0.97151	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	.	.	.	4.96	4.96	0.65561	.	0.896444	0.09568	N	0.784627	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	15.1587	0.72764	0.0:1.0:0.0:0.0	.	.	.	.	X	223;223;277	.	ENSP00000298699:E223X	E	-	1	0	C12orf50	86907205	0.088000	0.21588	0.804000	0.32291	0.651000	0.38670	1.402000	0.34600	2.316000	0.78162	0.558000	0.71614	GAA		0.338	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589	
CEP290	80184	broad.mit.edu	37	12	88479859	88479859	+	Missense_Mutation	SNP	C	C	T	rs576877716		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:88479859C>T	ENST00000552810.1	-	34	4737	c.4394G>A	c.(4393-4395)cGa>cAa	p.R1465Q	CEP290_ENST00000547691.2_Missense_Mutation_p.R525Q|CEP290_ENST00000397838.3_Missense_Mutation_p.R525Q|CEP290_ENST00000309041.7_Missense_Mutation_p.R1467Q	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1465					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.R1467Q(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TAGAATTATTCGAATGTTCTC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		14670	0.0		0.0	False		,,,				2504	0.001				p.R1465Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4394A	12						.						154.0	129.0	137.0					12																	88479859		1809	4062	5871	87003990	SO:0001583	missense	80184	exon34			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4394G>A	12.37:g.88479859C>T	ENSP00000448012:p.Arg1465Gln		87003990	NM_025114	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252652	0.39797	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.64260	0.41;-0.09;-0.09;0.41	5.78	4.89	0.63831	.	0.192474	0.47093	N	0.000258	T	0.45296	0.1335	L	0.35854	1.095	0.29182	N	0.876426	B	0.27166	0.17	B	0.16289	0.015	T	0.34079	-0.9843	10	0.11485	T	0.65	.	9.4503	0.38723	0.0:0.777:0.0:0.223	.	1465	O15078	CE290_HUMAN	Q	525;1465;1467;525	ENSP00000446905:R525Q;ENSP00000448012:R1465Q;ENSP00000308021:R1467Q;ENSP00000380938:R525Q	ENSP00000308021:R1467Q	R	-	2	0	CEP290	87003990	0.998000	0.40836	0.999000	0.59377	0.411000	0.31082	0.886000	0.28241	1.422000	0.47177	0.557000	0.71058	CGA		0.373	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
KITLG	4254	broad.mit.edu	37	12	88910162	88910162	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:88910162C>T	ENST00000228280.5	-	5	651	c.469G>A	c.(469-471)Gca>Aca	p.A157T	KITLG_ENST00000347404.5_Missense_Mutation_p.A157T|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	157					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)	p.A157T(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GTTTCAGATGCCACTACAAAG	0.348									Testicular Cancer, Familial Clustering of																												p.A157T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G469A	12						.						121.0	130.0	127.0					12																	88910162		2203	4298	6501	87434293	SO:0001583	missense	4254	exon5	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.469G>A	12.37:g.88910162C>T	ENSP00000228280:p.Ala157Thr		87434293	NM_003994	A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	ENST00000228280.5	37	CCDS31868.1	.	.	.	.	.	.	.	.	.	.	C	4.285	0.052103	0.08291	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.67345	-0.26;-0.26	4.43	-2.0	0.07433	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.139490	0.06279	N	0.697082	T	0.41213	0.1149	L	0.27053	0.805	0.09310	N	0.999996	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.27157	-1.0082	10	0.02654	T	1	0.634	0.7671	0.01017	0.1895:0.2071:0.1591:0.4443	.	157;157	P21583-2;P21583	.;SCF_HUMAN	T	122;157;157	ENSP00000228280:A157T;ENSP00000054216:A157T	ENSP00000228280:A157T	A	-	1	0	KITLG	87434293	0.001000	0.12720	0.797000	0.32132	0.955000	0.61496	-0.059000	0.11731	-0.254000	0.09500	0.591000	0.81541	GCA		0.348	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406424.2	NM_003994	
POC1B	282809	broad.mit.edu	37	12	89860692	89860692	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:89860692A>G	ENST00000313546.3	-	9	1015	c.887T>C	c.(886-888)tTa>tCa	p.L296S	POC1B_ENST00000541909.1_Missense_Mutation_p.L166S|POC1B_ENST00000393179.4_Missense_Mutation_p.L166S|POC1B_ENST00000549035.1_Missense_Mutation_p.L254S|POC1B_ENST00000378528.2_Missense_Mutation_p.Y83H|POC1B_ENST00000549504.1_Missense_Mutation_p.Y47H	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	296					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.L296S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AGTCCTCCATAATAAGACCTA	0.333																																					p.L296S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T887C	12						.						109.0	105.0	106.0					12																	89860692		2203	4300	6503	88384823	SO:0001583	missense	282809	exon9			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.887T>C	12.37:g.89860692A>G	ENSP00000323302:p.Leu296Ser		88384823	NM_172240	G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	CCDS31869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.594069|4.594069	0.86953|0.86953	.|.	.|.	ENSG00000139323|ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909|ENST00000378528;ENST00000549504	T;T;T;T|T	0.67171|0.72615	-0.25;-0.25;-0.25;-0.25|-0.67	6.03|6.03	6.03|6.03	0.97812|0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.462954|.	0.23277|.	N|.	0.049947|.	D|D	0.84379|0.84379	0.5459|0.5459	M|M	0.89414|0.89414	3.03|3.03	0.24325|0.24325	N|N	0.995027|0.995027	D|.	0.58620|.	0.983|.	P|.	0.57057|.	0.812|.	T|T	0.79720|0.79720	-0.1685|-0.1685	10|7	0.87932|0.87932	D|D	0|0	.|.	15.1292|15.1292	0.72507|0.72507	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	296|.	Q8TC44|.	POC1B_HUMAN|.	S|H	166;296;254;166|83;47	ENSP00000376877:L166S;ENSP00000323302:L296S;ENSP00000447916:L254S;ENSP00000440301:L166S|ENSP00000367789:Y83H	ENSP00000323302:L296S|ENSP00000367789:Y83H	L|Y	-|-	2|1	0|0	POC1B|POC1B	88384823|88384823	0.988000|0.988000	0.35896|0.35896	0.996000|0.996000	0.52242|0.52242	0.975000|0.975000	0.68041|0.68041	8.159000|8.159000	0.89651|0.89651	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TTA|TAT		0.333	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	
ATP2B1	490	broad.mit.edu	37	12	89985005	89985005	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:89985005G>A	ENST00000428670.3	-	21	3875	c.3419C>T	c.(3418-3420)tCg>tTg	p.S1140L	ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1140L|RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000359142.3_3'UTR|ATP2B1_ENST00000393164.2_Missense_Mutation_p.S883L|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S1104L|AC068641.1_ENST00000585304.1_RNA			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1178					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.S1140L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GTTGTGAATCGAACTTCTTGA	0.378																																					p.S1140L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3419T	12						.						137.0	127.0	130.0					12																	89985005		2203	4299	6502	88509136	SO:0001583	missense	490	exon20			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3419C>T	12.37:g.89985005G>A	ENSP00000392043:p.Ser1140Leu		88509136	NM_001682	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.26|17.26	3.344223|3.344223	0.61073|0.61073	.|.	.|.	ENSG00000070961|ENSG00000070961	ENST00000550716|ENST00000261173;ENST00000348959;ENST00000428670;ENST00000393164	.|T;T;T;T	.|0.80214	.|-1.35;-1.35;-1.35;-1.35	5.39|5.39	4.49|4.49	0.54785|0.54785	.|.	.|0.252429	.|0.41605	.|D	.|0.000851	.|D	.|0.90525	.|0.7031	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.082	.|D;B	.|0.77557	.|0.99;0.031	.|D	.|0.91365	.|0.5115	.|10	.|0.48119	.|T	.|0.1	-15.288|-15.288	16.1779|16.1779	0.81874|0.81874	0.0:0.1335:0.8665:0.0|0.0:0.1335:0.8665:0.0	.|.	.|1140;1104	.|P20020-3;P20020-6	.|.;.	X|L	121|1140;1104;1140;883	.|ENSP00000261173:S1140L;ENSP00000343599:S1104L;ENSP00000392043:S1140L;ENSP00000376869:S883L	.|ENSP00000261173:S1140L	R|S	-|-	1|2	2|0	ATP2B1|ATP2B1	88509136|88509136	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.985000|0.985000	0.73830|0.73830	9.869000|9.869000	0.99810|0.99810	1.245000|1.245000	0.43885|0.43885	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.378	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
ATP2B1	490	broad.mit.edu	37	12	89995141	89995141	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:89995141A>G	ENST00000428670.3	-	19	3586	c.3130T>C	c.(3130-3132)Tca>Cca	p.S1044P	ATP2B1_ENST00000261173.2_Missense_Mutation_p.S1044P|ATP2B1_ENST00000359142.3_Missense_Mutation_p.S1044P|ATP2B1_ENST00000393164.2_Missense_Mutation_p.S787P|ATP2B1_ENST00000348959.3_Intron			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1044					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.S1044P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AGGAATATTGACCATAGCCAC	0.323																																					p.S1044P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3130C	12						.						89.0	99.0	95.0					12																	89995141		2203	4296	6499	88519272	SO:0001583	missense	490	exon18			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.3130T>C	12.37:g.89995141A>G	ENSP00000392043:p.Ser1044Pro		88519272	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669793	0.88348	.	.	ENSG00000070961	ENST00000261173;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88	5.97	4.83	0.62350	.	0.117841	0.64402	N	0.000012	D	0.97148	0.9068	M	0.79693	2.465	0.80722	D	1	P;D	0.59767	0.955;0.986	P;D	0.63703	0.564;0.917	D	0.97092	0.9791	10	0.87932	D	0	-34.225	12.0313	0.53399	0.9329:0.0:0.0671:0.0	.	1044;1044	P20020-3;P20020-2	.;.	P	1044;1044;1044;787	ENSP00000261173:S1044P;ENSP00000352054:S1044P;ENSP00000392043:S1044P;ENSP00000376869:S787P	ENSP00000261173:S1044P	S	-	1	0	ATP2B1	88519272	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.339000	0.96797	1.087000	0.41251	-0.256000	0.11100	TCA		0.323	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
ATP2B1	490	broad.mit.edu	37	12	90004986	90004986	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:90004986C>T	ENST00000428670.3	-	13	2687	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	ATP2B1_ENST00000261173.2_Missense_Mutation_p.R744Q|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R744Q|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R487Q|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R744Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	744					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.R744Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TTTTTCATTTCGTATTCTTCT	0.303																																					p.R744Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2231A	12						.						88.0	94.0	92.0					12																	90004986		2203	4299	6502	88529117	SO:0001583	missense	490	exon12			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2231G>A	12.37:g.90004986C>T	ENSP00000392043:p.Arg744Gln		88529117	NM_001001323	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583483	0.86748	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	M	0.86651	2.83	0.80722	D	1	P;P;P	0.43352	0.733;0.804;0.687	B;B;B	0.39258	0.114;0.295;0.249	D	0.97160	0.9837	10	0.87932	D	0	-26.798	20.2228	0.98330	0.0:1.0:0.0:0.0	.	744;744;744	P20020-3;P20020-2;P20020-6	.;.;.	Q	744;744;744;744;487	ENSP00000261173:R744Q;ENSP00000343599:R744Q;ENSP00000352054:R744Q;ENSP00000392043:R744Q;ENSP00000376869:R487Q	ENSP00000261173:R744Q	R	-	2	0	ATP2B1	88529117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.789000	0.95967	0.655000	0.94253	CGA		0.303	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
PLEKHG7	440107	broad.mit.edu	37	12	93157896	93157896	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:93157896C>T	ENST00000344636.3	+	10	1044	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	287	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S287L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						GAGGGTGGTTCGTGTACAGTA	0.393																																					p.S287L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C860T	12						.						198.0	188.0	191.0					12																	93157896		2203	4300	6503	91682027	SO:0001583	missense	440107	exon10			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.860C>T	12.37:g.93157896C>T	ENSP00000344961:p.Ser287Leu		91682027	NM_001004330	B2RNR7	Missense_Mutation	SNP	ENST00000344636.3	37	CCDS31873.1	.	.	.	.	.	.	.	.	.	.	C	1.374	-0.585360	0.03827	.	.	ENSG00000187510	ENST00000344636	T	0.65178	-0.14	5.56	2.77	0.32553	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.466719	0.24783	N	0.035628	T	0.50480	0.1618	L	0.50333	1.59	0.24352	N	0.994912	B	0.18968	0.032	B	0.11329	0.006	T	0.35251	-0.9796	10	0.25751	T	0.34	-6.4456	7.9881	0.30224	0.0:0.6728:0.0:0.3272	.	287	Q6ZR37	PKHG7_HUMAN	L	287	ENSP00000344961:S287L	ENSP00000344961:S287L	S	+	2	0	PLEKHG7	91682027	0.260000	0.24053	0.588000	0.28705	0.151000	0.21798	0.670000	0.25157	0.722000	0.32252	-0.142000	0.14014	TCG		0.393	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1	NM_001004330	
SOCS2	8835	broad.mit.edu	37	12	93968645	93968645	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:93968645G>A	ENST00000340600.2	+	3	885	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549206.1_Missense_Mutation_p.R96Q|SOCS2_ENST00000549122.1_Missense_Mutation_p.R96Q|SOCS2_ENST00000551556.1_Missense_Mutation_p.R96Q|SOCS2_ENST00000536696.2_Missense_Mutation_p.R96Q	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	96	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.R96Q(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						ACTAATCTTCGAATCGAATAC	0.378																																					p.R96Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	12						.						83.0	78.0	80.0					12																	93968645		2203	4300	6503	92492776	SO:0001583	missense	8835	exon3			AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.287G>A	12.37:g.93968645G>A	ENSP00000339428:p.Arg96Gln		92492776	NM_003877	A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038969	0.75617	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.84	5.84	0.93424	SH2 motif (4);	0.055893	0.64402	N	0.000001	D	0.95146	0.8427	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95079	0.8211	10	0.87932	D	0	-0.8535	20.1346	0.98019	0.0:0.0:1.0:0.0	.	96	O14508	SOCS2_HUMAN	Q	96;96;96;44;96;96;96;96	ENSP00000339428:R96Q;ENSP00000448815:R96Q;ENSP00000442898:R96Q;ENSP00000447902:R96Q;ENSP00000447161:R96Q;ENSP00000448611:R96Q;ENSP00000449227:R96Q	ENSP00000339428:R96Q	R	+	2	0	SOCS2	92492776	1.000000	0.71417	0.966000	0.40874	0.239000	0.25481	9.531000	0.98054	2.765000	0.95021	0.655000	0.94253	CGA		0.378	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2		
SOCS2	8835	broad.mit.edu	37	12	93968737	93968737	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:93968737G>A	ENST00000340600.2	+	3	977	c.379G>A	c.(379-381)Gac>Aac	p.D127N	SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549206.1_Missense_Mutation_p.D127N|SOCS2_ENST00000549122.1_Missense_Mutation_p.D127N|SOCS2_ENST00000551556.1_Missense_Mutation_p.D127N|SOCS2_ENST00000536696.2_Missense_Mutation_p.D127N	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	127	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.D127N(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						TCATCTGATCGACTACTATGT	0.448																																					p.D127N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G379A	12						.						87.0	82.0	84.0					12																	93968737		2203	4300	6503	92492868	SO:0001583	missense	8835	exon3			AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.379G>A	12.37:g.93968737G>A	ENSP00000339428:p.Asp127Asn		92492868	NM_003877	A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737569	0.69304	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000548091;ENST00000549122;ENST00000549887;ENST00000551556	D;D;D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36;-2.36;-2.36	5.84	5.84	0.93424	SH2 motif (5);	0.091348	0.85682	D	0.000000	D	0.83142	0.5190	N	0.11341	0.13	0.45567	D	0.998518	P	0.46706	0.883	B	0.43916	0.436	D	0.84672	0.0712	10	0.45353	T	0.12	-0.7167	20.1346	0.98019	0.0:0.0:1.0:0.0	.	127	O14508	SOCS2_HUMAN	N	127;127;127;75;127;127;127;127	ENSP00000339428:D127N;ENSP00000448815:D127N;ENSP00000442898:D127N;ENSP00000447902:D127N;ENSP00000447161:D127N;ENSP00000448611:D127N;ENSP00000449227:D127N	ENSP00000339428:D127N	D	+	1	0	SOCS2	92492868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.191000	0.65110	2.765000	0.95021	0.655000	0.94253	GAC		0.448	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2		
PLXNC1	10154	broad.mit.edu	37	12	94620946	94620946	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:94620946G>A	ENST00000258526.4	+	9	2164	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	639					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.E639K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTGGCTGTCGAGAAGACATC	0.473																																					p.E639K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1915A	12						.						148.0	136.0	140.0					12																	94620946		2203	4300	6503	93145077	SO:0001583	missense	10154	exon9			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1915G>A	12.37:g.94620946G>A	ENSP00000258526:p.Glu639Lys		93145077	NM_005761	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.388726	0.25118	.	.	ENSG00000136040	ENST00000258526	T	0.06849	3.25	5.36	3.49	0.39957	.	1.372380	0.04200	N	0.329816	T	0.08447	0.0210	L	0.48642	1.525	0.21553	N	0.999648	B	0.10296	0.003	B	0.04013	0.001	T	0.48885	-0.8995	10	0.05959	T	0.93	.	6.8993	0.24273	0.0928:0.1789:0.7283:0.0	.	639	O60486	PLXC1_HUMAN	K	639	ENSP00000258526:E639K	ENSP00000258526:E639K	E	+	1	0	PLXNC1	93145077	0.887000	0.30362	0.150000	0.22450	0.021000	0.10359	1.317000	0.33631	1.391000	0.46566	0.650000	0.86243	GAG		0.473	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
TMCC3	57458	broad.mit.edu	37	12	94975836	94975836	+	Missense_Mutation	SNP	G	G	A	rs370011735		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:94975836G>A	ENST00000261226.4	-	2	688	c.557C>T	c.(556-558)tCg>tTg	p.S186L	TMCC3_ENST00000551457.1_Missense_Mutation_p.S155L	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	186						integral component of membrane (GO:0016021)		p.S186L(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGGCATGCCCGATTTGCTGCT	0.498																																					p.S186L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C557T	12						.						85.0	91.0	89.0					12																	94975836		2203	4300	6503	93499967	SO:0001583	missense	57458	exon2			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.557C>T	12.37:g.94975836G>A	ENSP00000261226:p.Ser186Leu		93499967	NM_020698	Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533983	0.45073	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.44083	0.93;0.93	5.74	2.95	0.34219	.	0.339649	0.34362	N	0.004022	T	0.30727	0.0774	L	0.46157	1.445	0.40154	D	0.976984	P	0.40211	0.707	B	0.35312	0.2	T	0.05131	-1.0904	10	0.29301	T	0.29	-0.3844	9.094	0.36627	0.2759:0.0:0.7241:0.0	.	186	Q9ULS5	TMCC3_HUMAN	L	186;155	ENSP00000261226:S186L;ENSP00000449888:S155L	ENSP00000261226:S186L	S	-	2	0	TMCC3	93499967	0.999000	0.42202	0.603000	0.28903	0.598000	0.36846	2.028000	0.41088	0.458000	0.26988	0.561000	0.74099	TCG		0.498	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698	
FGD6	55785	broad.mit.edu	37	12	95501353	95501353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:95501353G>A	ENST00000343958.4	-	12	3542	c.3319C>T	c.(3319-3321)Cga>Tga	p.R1107*	FGD6_ENST00000549499.1_Nonsense_Mutation_p.R1107*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.R1107*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1107	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R1107*(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AAAAACATTCGAGGTTGCATC	0.423																																					p.R1107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3319T	12						.						138.0	115.0	123.0					12																	95501353		2203	4300	6503	94025484	SO:0001587	stop_gained	55785	exon12			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3319C>T	12.37:g.95501353G>A	ENSP00000344446:p.Arg1107*		94025484	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Nonsense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590776	0.86851	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000551521;ENST00000549499	.	.	.	6.06	5.1	0.69264	.	0.000000	0.38605	N	0.001622	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5598	17.6941	0.88276	0.0:0.0:0.8078:0.1922	.	.	.	.	X	1107;1107;103;1107	.	ENSP00000344446:R1107X	R	-	1	2	FGD6	94025484	1.000000	0.71417	0.995000	0.50966	0.630000	0.37929	2.870000	0.48451	2.880000	0.98712	0.650000	0.86243	CGA		0.423	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
FGD6	55785	broad.mit.edu	37	12	95531378	95531378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:95531378C>A	ENST00000343958.4	-	7	3137	c.2914G>T	c.(2914-2916)Gaa>Taa	p.E972*	FGD6_ENST00000549499.1_Nonsense_Mutation_p.E972*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.E972*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	972	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.E972*(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTATCAAATTCTTTGATGTAT	0.343																																					p.E972X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2914T	12						.						115.0	107.0	110.0					12																	95531378		2202	4300	6502	94055509	SO:0001587	stop_gained	55785	exon7			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2914G>T	12.37:g.95531378C>A	ENSP00000344446:p.Glu972*		94055509	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Nonsense_Mutation	SNP	ENST00000343958.4	37	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	C	41	8.808254	0.98962	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	.	.	.	5.06	5.06	0.68205	.	0.000000	0.46758	D	0.000278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-25.3857	18.7843	0.91947	0.0:1.0:0.0:0.0	.	.	.	.	X	972	.	ENSP00000344446:E972X	E	-	1	0	FGD6	94055509	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.529000	0.60588	2.503000	0.84419	0.561000	0.74099	GAA		0.343	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
USP44	84101	broad.mit.edu	37	12	95927545	95927545	+	Missense_Mutation	SNP	C	C	T	rs371620070		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:95927545C>T	ENST00000258499.3	-	2	776	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	USP44_ENST00000537435.2_Missense_Mutation_p.R163Q|USP44_ENST00000393091.2_Missense_Mutation_p.R163Q|USP44_ENST00000552440.1_Missense_Mutation_p.R163Q	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	163					mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R163Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AAACCATGTTCGAAAGATTTT	0.373																																					p.R163Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488A	12						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	108.0	107.0	107.0		488,488	5.0	1.0	12		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	USP44	NM_001042403.1,NM_032147.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	163/713,163/713	95927545	1,13005	2203	4300	6503	94451676	SO:0001583	missense	84101	exon2			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.488G>A	12.37:g.95927545C>T	ENSP00000258499:p.Arg163Gln		94451676	NM_001042403	B2RDW3	Missense_Mutation	SNP	ENST00000258499.3	37	CCDS9053.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146578	0.57044	0.0	1.16E-4	ENSG00000136014	ENST00000258499;ENST00000393091;ENST00000552440;ENST00000537435;ENST00000551837	T;T;T;T;T	0.48836	3.68;3.68;2.42;3.68;0.8	5.0	5.0	0.66597	.	0.059766	0.64402	D	0.000004	T	0.51193	0.1660	M	0.74881	2.28	0.54753	D	0.999988	P	0.52463	0.953	B	0.41135	0.348	T	0.57636	-0.7777	10	0.35671	T	0.21	.	18.6628	0.91477	0.0:1.0:0.0:0.0	.	163	Q9H0E7	UBP44_HUMAN	Q	163	ENSP00000258499:R163Q;ENSP00000376806:R163Q;ENSP00000448670:R163Q;ENSP00000442629:R163Q;ENSP00000448601:R163Q	ENSP00000258499:R163Q	R	-	2	0	USP44	94451676	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.472000	0.60189	2.474000	0.83562	0.561000	0.74099	CGA		0.373	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408312.1	NM_032147	
AMDHD1	144193	broad.mit.edu	37	12	96354204	96354204	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:96354204G>T	ENST00000266736.2	+	5	722	c.616G>T	c.(616-618)Gac>Tac	p.D206Y		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	206					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)	p.D206Y(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						AGCTGCTGATGACATCATCAA	0.408																																					p.D206Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G616T	12						.						88.0	82.0	84.0					12																	96354204		2203	4300	6503	94878335	SO:0001583	missense	144193	exon5			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.616G>T	12.37:g.96354204G>T	ENSP00000266736:p.Asp206Tyr		94878335	NM_152435	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158599	0.38119	.	.	ENSG00000139344	ENST00000266736	T	0.42513	0.97	5.55	5.55	0.83447	Metal-dependent hydrolase, composite domain (1);	0.039773	0.85682	D	0.000000	T	0.53384	0.1793	L	0.48362	1.52	0.80722	D	1	D	0.55605	0.972	D	0.64506	0.926	T	0.38993	-0.9635	10	0.02654	T	1	-1.2541	19.8741	0.96863	0.0:0.0:1.0:0.0	.	206	Q96NU7	HUTI_HUMAN	Y	206	ENSP00000266736:D206Y	ENSP00000266736:D206Y	D	+	1	0	AMDHD1	94878335	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	9.062000	0.93920	2.761000	0.94854	0.655000	0.94253	GAC		0.408	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1	NM_152435	
CDK17	5128	broad.mit.edu	37	12	96674610	96674610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:96674610G>A	ENST00000261211.3	-	16	2113	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	CDK17_ENST00000543119.2_Nonsense_Mutation_p.R504*|CDK17_ENST00000542666.1_Nonsense_Mutation_p.R451*	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	504					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.R504*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GAAGAATTTCGAAAACCCGGG	0.343																																					p.R504X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1510T	12						.						67.0	64.0	65.0					12																	96674610		2203	4300	6503	95198741	SO:0001587	stop_gained	5128	exon16				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1510C>T	12.37:g.96674610G>A	ENSP00000261211:p.Arg504*		95198741	NM_002595	A8K1U6|B2RCQ2|Q8NEB8	Nonsense_Mutation	SNP	ENST00000261211.3	37	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	G	42	9.525998	0.99195	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.677	20.2983	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	504;504;451	.	ENSP00000261211:R504X	R	-	1	2	CDK17	95198741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.018000	0.57174	2.802000	0.96397	0.655000	0.94253	CGA		0.343	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	
NEDD1	121441	broad.mit.edu	37	12	97334196	97334196	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:97334196G>A	ENST00000266742.4	+	10	1466	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	NEDD1_ENST00000411739.2_Missense_Mutation_p.R287Q|NEDD1_ENST00000457368.2_Missense_Mutation_p.R287Q|NEDD1_ENST00000557644.1_Missense_Mutation_p.R383Q|NEDD1_ENST00000429527.2_Missense_Mutation_p.R376Q	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	376					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.R376Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GGTTTGCCTCGAAGCATAAAC	0.303																																					p.R376Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1127A	12						.						88.0	90.0	90.0					12																	97334196		2203	4300	6503	95858327	SO:0001583	missense	121441	exon10				CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1127G>A	12.37:g.97334196G>A	ENSP00000266742:p.Arg376Gln		95858327	NM_152905	B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828411	0.71143	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.47528	0.84;0.84;1.62;0.84;1.62	5.69	4.67	0.58626	.	0.388231	0.25593	N	0.029604	T	0.52741	0.1753	L	0.51422	1.61	0.32073	N	0.594135	D;P	0.76494	0.999;0.852	P;B	0.60345	0.873;0.088	T	0.55768	-0.8089	10	0.12766	T	0.61	.	9.8221	0.40889	0.2043:0.0:0.7957:0.0	.	383;376	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	Q	376;376;287;383;287	ENSP00000266742:R376Q;ENSP00000404978:R376Q;ENSP00000411307:R287Q;ENSP00000451211:R383Q;ENSP00000407964:R287Q	ENSP00000266742:R376Q	R	+	2	0	NEDD1	95858327	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.906000	0.39887	1.152000	0.42452	0.591000	0.81541	CGA		0.303	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1		
SLC25A3	5250	broad.mit.edu	37	12	98993793	98993793	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:98993793C>T	ENST00000228318.3	+	6	825	c.705C>T	c.(703-705)ttC>ttT	p.F235F	SLC25A3_ENST00000552981.1_Silent_p.F234F|SLC25A3_ENST00000401722.3_Silent_p.F234F|SNORA53_ENST00000391141.1_RNA|SLC25A3_ENST00000549338.1_Silent_p.F234F|SLC25A3_ENST00000551917.1_Silent_p.F235F|SLC25A3_ENST00000548847.1_Silent_p.F234F|SLC25A3_ENST00000188376.5_Silent_p.F234F	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	235					generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)	p.F235F(1)|p.F234F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TGATGAAGTTCGCCTGCTTTG	0.448																																					p.F234F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C702T	12						.						162.0	133.0	143.0					12																	98993793		2203	4300	6503	97517924	SO:0001819	synonymous_variant	5250	exon6				CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.705C>T	12.37:g.98993793C>T			97517924	NM_002635	B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	CCDS9066.1																																																																																				0.448	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888	
APAF1	317	broad.mit.edu	37	12	99064795	99064795	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:99064795A>C	ENST00000551964.1	+	11	2275	c.1539A>C	c.(1537-1539)aaA>aaC	p.K513N	APAF1_ENST00000549007.1_Missense_Mutation_p.K513N|APAF1_ENST00000547045.1_Missense_Mutation_p.K513N|APAF1_ENST00000550527.1_Missense_Mutation_p.K502N|APAF1_ENST00000359972.2_Missense_Mutation_p.K502N|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Missense_Mutation_p.K513N|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.K513N	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	513					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.K513N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTAAAGCAAAAACAGAACTTG	0.313																																					p.K502N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1506C	12						.						107.0	105.0	105.0					12																	99064795		2203	4297	6500	97588926	SO:0001583	missense	317	exon11			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1539A>C	12.37:g.99064795A>C	ENSP00000448165:p.Lys513Asn		97588926	NM_013229	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977443	0.53720	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.68624	-0.32;-0.21;-0.23;-0.13;-0.34;-0.23;-0.13	5.5	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;0.998;0.996	T	0.70139	-0.4954	10	0.48119	T	0.1	-0.1486	10.7728	0.46332	0.8497:0.0:0.1503:0.0	.	513;502;513;502	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	N	513;502;513;513;502;513;513	ENSP00000448165:K513N;ENSP00000353059:K502N;ENSP00000349862:K513N;ENSP00000341830:K513N;ENSP00000448449:K502N;ENSP00000449791:K513N;ENSP00000448161:K513N	ENSP00000341830:K513N	K	+	3	2	APAF1	97588926	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.248000	0.51430	0.918000	0.36919	-0.264000	0.10439	AAA		0.313	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1	
ANKS1B	56899	broad.mit.edu	37	12	99446978	99446978	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:99446978G>A	ENST00000547776.2	-	17	2734	c.2735C>T	c.(2734-2736)tCg>tTg	p.S912L	ANKS1B_ENST00000549493.2_Missense_Mutation_p.S138L|ANKS1B_ENST00000547010.1_Missense_Mutation_p.S488L|ANKS1B_ENST00000546568.1_Missense_Mutation_p.S138L|ANKS1B_ENST00000547446.1_Missense_Mutation_p.S107L|ANKS1B_ENST00000550693.2_Missense_Mutation_p.S138L|ANKS1B_ENST00000549025.2_Missense_Mutation_p.S81L|ANKS1B_ENST00000332712.7_Missense_Mutation_p.S138L|ANKS1B_ENST00000549558.2_Missense_Mutation_p.S138L|ANKS1B_ENST00000546960.1_Missense_Mutation_p.S138L|ANKS1B_ENST00000329257.7_Missense_Mutation_p.S912L	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	912	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.S912L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGGTCCATCGAAGTGTAGCC	0.408																																					p.S138L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413T	12						.						47.0	44.0	45.0					12																	99446978		1859	4108	5967	97971109	SO:0001583	missense	56899	exon3			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2735C>T	12.37:g.99446978G>A	ENSP00000449629:p.Ser912Leu		97971109	NM_181670	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.937044|4.937044	0.92458|0.92458	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000550778|ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960;ENST00000552245	.|T;T;T;T;T;T;T;T;T;T;T	.|0.56103	.|0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.76492	.|0.3995	M|M	0.83603|0.83603	2.65|2.65	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D;D;D;D;D;D;D;D;D;P	.|0.89917	.|0.999;0.998;1.0;0.997;0.998;0.978;0.999;0.997;0.999;0.999;0.879	.|D;P;D;D;P;P;D;P;D;D;B	.|0.85130	.|0.981;0.892;0.997;0.951;0.892;0.836;0.991;0.897;0.985;0.996;0.375	.|T	.|0.78242	.|-0.2280	.|10	.|0.87932	.|D	.|0	-5.1211|-5.1211	18.8244|18.8244	0.92111|0.92111	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|107;138;138;138;126;138;138;81;488;912;138	.|F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.|.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	X|L	184|138;912;488;912;487;138;81;138;107;138;138;74;138;138	.|ENSP00000448993:S138L;ENSP00000449629:S912L;ENSP00000448512:S488L;ENSP00000331381:S912L;ENSP00000447999:S138L;ENSP00000447312:S81L;ENSP00000448203:S138L;ENSP00000450015:S107L;ENSP00000448205:S138L;ENSP00000332683:S138L;ENSP00000447839:S138L	.|ENSP00000331381:S912L	R|S	-|-	1|2	2|0	ANKS1B|ANKS1B	97971109|97971109	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.994000|0.994000	0.84299|0.84299	8.983000|8.983000	0.93477|0.93477	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.408	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140	
UHRF1BP1L	23074	broad.mit.edu	37	12	100452005	100452005	+	Missense_Mutation	SNP	G	G	A	rs113370005	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:100452005G>A	ENST00000279907.7	-	14	3262	c.3050C>T	c.(3049-3051)tCg>tTg	p.S1017L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S667L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1017								p.S1017L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAGTATATTCGAATCTTCTCT	0.308													G|||	9	0.00179712	0.0061	0.0014	5008	,	,		17519	0.0		0.0	False		,,,				2504	0.0				p.S1017L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3050T	12						.	G	LEU/SER	37,4367	39.2+/-71.8	0,37,2165	64.0	70.0	68.0		3050	4.1	0.3	12	dbSNP_132	68	1,8591	1.2+/-3.3	0,1,4295	yes	missense	UHRF1BP1L	NM_015054.1	145	0,38,6460	AA,AG,GG		0.0116,0.8401,0.2924	possibly-damaging	1017/1465	100452005	38,12958	2202	4296	6498	98976136	SO:0001583	missense	23074	exon14				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3050C>T	12.37:g.100452005G>A	ENSP00000279907:p.Ser1017Leu		98976136	NM_015054	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	CCDS31882.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.929	-0.221521	0.06061	0.008401	1.16E-4	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.10573	2.86;2.86	5.89	4.06	0.47325	.	0.770364	0.12308	N	0.480479	T	0.04634	0.0126	N	0.17082	0.46	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.27088	-1.0084	10	0.34782	T	0.22	-5.8906	7.6081	0.28113	0.1371:0.0:0.7308:0.1321	.	1017	A0JNW5	UH1BL_HUMAN	L	1017;667	ENSP00000279907:S1017L;ENSP00000444824:S667L	ENSP00000279907:S1017L	S	-	2	0	UHRF1BP1L	98976136	0.845000	0.29573	0.344000	0.25628	0.057000	0.15508	1.075000	0.30716	1.494000	0.48533	0.557000	0.71058	TCG		0.308	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
ZNF26	7574	broad.mit.edu	37	12	133587135	133587135	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr12:133587135C>T	ENST00000328654.5	+	4	1047	c.670C>T	c.(670-672)Cat>Tat	p.H224Y	ZNF26_ENST00000534834.1_Missense_Mutation_p.H204Y	NM_019591.3	NP_062537.2	P17031	ZNF26_HUMAN	zinc finger protein 26	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H224Y(1)		autonomic_ganglia(1)|large_intestine(7)|lung(2)|prostate(1)|skin(2)	13	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.24e-11)|all_epithelial(31;1.21e-08)|Lung NSC(355;0.000431)		OV - Ovarian serous cystadenocarcinoma(86;9.53e-09)|Epithelial(86;2.63e-07)|all cancers(50;1.14e-05)		TCAGAGAGTTCATACAGGAGA	0.433																																					p.H224Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C670T	12						.						0.0	0.0	0.0					12																	133587135		0	0	0	132097208	SO:0001583	missense	7574	exon4			X52351	CCDS31939.1	12q24.33	2013-01-08	2006-05-10		ENSG00000198393	ENSG00000198393		"""Zinc fingers, C2H2-type"", ""-"""	13053	protein-coding gene	gene with protein product		194537	"""zinc finger protein 26 (KOX 20)"""				Standard	NM_001256279		Approved	KOX20, FLJ20755	uc031qkj.1	P17031	OTTHUMG00000167936	ENST00000328654.5:c.670C>T	12.37:g.133587135C>T	ENSP00000333725:p.His224Tyr		132097208	NM_019591	Q86X57|Q9NWL3	Missense_Mutation	SNP	ENST00000328654.5	37	CCDS31939.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044901	0.75732	.	.	ENSG00000198393	ENST00000328654;ENST00000534834	T;T	0.67523	-0.27;-0.27	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32655	N	0.005807	D	0.84401	0.5464	M	0.91768	3.24	0.40318	D	0.978792	D	0.76494	0.999	D	0.77557	0.99	D	0.88921	0.3366	9	.	.	.	.	14.8476	0.70272	0.0:1.0:0.0:0.0	.	224	P17031	ZNF26_HUMAN	Y	224;204	ENSP00000333725:H224Y;ENSP00000437420:H204Y	.	H	+	1	0	ZNF26	132097208	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	5.374000	0.66167	2.084000	0.62774	0.460000	0.39030	CAT		0.433	ZNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397145.2	NM_019591	
TPP2	7174	broad.mit.edu	37	13	103268777	103268777	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:103268777T>C	ENST00000376065.4	+	4	458	c.422T>C	c.(421-423)gTt>gCt	p.V141A	TPP2_ENST00000376052.3_Missense_Mutation_p.V141A	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	141	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.V141A(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGACCCTGTTCACAGAGTG	0.413																																					p.V141A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T422C	13						.						93.0	102.0	99.0					13																	103268777		2203	4300	6503	102066778	SO:0001583	missense	7174	exon4			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.422T>C	13.37:g.103268777T>C	ENSP00000365233:p.Val141Ala		102066778	NM_003291	Q5VZU8	Missense_Mutation	SNP	ENST00000376065.4	37	CCDS9502.1	.	.	.	.	.	.	.	.	.	.	T	9.989	1.230300	0.22542	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.64	4.46	0.54185	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.472269	0.22995	N	0.053146	T	0.21841	0.0526	N	0.08118	0	0.24640	N	0.993575	B	0.18461	0.028	B	0.19666	0.026	T	0.18304	-1.0341	9	0.16420	T	0.52	.	10.4376	0.44445	0.0:0.1355:0.0:0.8645	.	141	P29144	TPP2_HUMAN	A	141	.	ENSP00000365220:V141A	V	+	2	0	TPP2	102066778	0.941000	0.31946	1.000000	0.80357	0.971000	0.66376	1.561000	0.36342	1.080000	0.41073	0.528000	0.53228	GTT		0.413	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2		
BIVM	54841	broad.mit.edu	37	13	103491974	103491974	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:103491974G>T	ENST00000257336.1	+	11	1950	c.1271G>T	c.(1270-1272)aGa>aTa	p.R424I	BIVM_ENST00000419638.1_3'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.K395N|BIVM_ENST00000448849.2_Missense_Mutation_p.R202I	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	424						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R424I(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AACTGGCAAAGATTTGGCCTT	0.388																																					p.R202I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G605T	13						.						88.0	89.0	89.0					13																	103491974		2203	4300	6503	102289975	SO:0001583	missense	2073	exon9			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.1271G>T	13.37:g.103491974G>T	ENSP00000257336:p.Arg424Ile		102289975	NM_001159596	Q2M1J2|Q9NXM4	Missense_Mutation	SNP	ENST00000257336.1	37	CCDS9505.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907904	0.72868	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000448849;ENST00000418659	.	.	.	4.93	4.93	0.64822	.	0.062774	0.64402	D	0.000006	T	0.67664	0.2917	L	0.36672	1.1	0.58432	D	0.99999	D;D;D	0.76494	0.967;0.999;0.997	P;D;D	0.66196	0.6;0.942;0.931	T	0.71038	-0.4708	9	0.66056	D	0.02	-14.6856	18.4951	0.90863	0.0:0.0:1.0:0.0	.	202;395;424	Q86UB2-2;Q59FZ7;Q86UB2	.;.;BIVM_HUMAN	I	424;202;395	.	ENSP00000257336:R424I	R	+	2	0	ERCC5;BIVM	102289975	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.294000	0.78760	2.422000	0.82143	0.563000	0.77884	AGA		0.388	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045704.2		
ERCC5	2073	broad.mit.edu	37	13	103504590	103504590	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:103504590C>T	ENST00000355739.4	+	2	1634	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	ERCC5_ENST00000535557.1_Missense_Mutation_p.R71C|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S496L	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	71	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.R71C(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTTTCGAATTCGTCCTATTTT	0.368			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.R71C		yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C211T	13						.						135.0	135.0	135.0					13																	103504590		2203	4300	6503	102302591	SO:0001583	missense	2073	exon2	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.211C>T	13.37:g.103504590C>T	ENSP00000347978:p.Arg71Cys		102302591	NM_000123	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184767	0.78677	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557	T;T	0.65364	-0.15;-0.15	5.39	5.39	0.77823	XPG conserved site (1);XPG N-terminal (2);	0.057540	0.64402	D	0.000002	D	0.82793	0.5114	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.986;0.999	D	0.85774	0.1357	10	0.87932	D	0	-14.9988	19.1376	0.93435	0.0:1.0:0.0:0.0	.	71;71;496	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	C	496;71;71	ENSP00000347978:R71C;ENSP00000442117:R71C	ENSP00000347978:R71C	R	+	1	0	ERCC5	102302591	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.547000	0.60712	2.514000	0.84764	0.579000	0.79373	CGT		0.368	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
ERCC5	2073	broad.mit.edu	37	13	103510724	103510724	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:103510724G>T	ENST00000355739.4	+	6	2051	c.628G>T	c.(628-630)Gag>Tag	p.E210*	ERCC5_ENST00000535557.1_Nonsense_Mutation_p.E210*|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R635I	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	210					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.E210*(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGATATGAAAGAGTTCACCAA	0.393			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.E210X		yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G628T	13						.						104.0	107.0	106.0					13																	103510724		2203	4300	6503	102308725	SO:0001587	stop_gained	2073	exon6	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.628G>T	13.37:g.103510724G>T	ENSP00000347978:p.Glu210*		102308725	NM_000123	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Nonsense_Mutation	SNP	ENST00000355739.4	37	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	39	7.632232	0.98399	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000535557;ENST00000375955	.	.	.	5.31	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-31.933	14.3382	0.66606	0.0727:0.0:0.9273:0.0	.	.	.	.	X	635;210;210;42	.	ENSP00000347978:E210X	E	+	1	0	ERCC5	102308725	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.056000	0.71111	2.470000	0.83445	0.655000	0.94253	GAG		0.393	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
SLC10A2	6555	broad.mit.edu	37	13	103718557	103718557	+	Missense_Mutation	SNP	A	A	C	rs551355092	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:103718557A>C	ENST00000245312.3	-	1	639	c.43T>G	c.(43-45)Tct>Gct	p.S15A		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	15					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.S15A(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GATGCACCAGAGCAAACTGTT	0.527																																					p.S15A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T43G	13						.						145.0	135.0	138.0					13																	103718557		2203	4300	6503	102516558	SO:0001583	missense	6555	exon1			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.43T>G	13.37:g.103718557A>C	ENSP00000245312:p.Ser15Ala		102516558	NM_000452	A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	A	2.397	-0.338581	0.05243	.	.	ENSG00000125255	ENST00000245312	T	0.08008	3.14	5.67	-6.79	0.01715	.	1.470420	0.03359	N	0.197265	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39502	-0.9611	10	0.15499	T	0.54	-12.2594	0.8944	0.01260	0.1869:0.1866:0.2469:0.3796	.	15	Q12908	NTCP2_HUMAN	A	15	ENSP00000245312:S15A	ENSP00000245312:S15A	S	-	1	0	SLC10A2	102516558	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.190000	0.03058	-0.632000	0.05553	-0.438000	0.05819	TCT		0.527	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1		
MYO16	23026	broad.mit.edu	37	13	109753197	109753197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:109753197C>T	ENST00000357550.2	+	27	3375	c.3334C>T	c.(3334-3336)Cga>Tga	p.R1112*	MYO16-AS2_ENST00000412809.1_RNA|MYO16_ENST00000457511.2_Nonsense_Mutation_p.R624*|MYO16_ENST00000356711.2_Nonsense_Mutation_p.R1112*	NM_001198950.1	NP_001185879.1			myosin XVI									p.R1112*(3)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGAGCGATGTCGACTTGTTCT	0.438																																					p.R1134X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C3400T	13						.						85.0	75.0	78.0					13																	109753197		2203	4300	6503	108551198	SO:0001587	stop_gained	23026	exon28				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3334C>T	13.37:g.109753197C>T	ENSP00000350160:p.Arg1112*		108551198	NM_001198950		Nonsense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	38	7.189685	0.98125	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	.	.	.	5.45	5.45	0.79879	.	0.226097	0.21868	U	0.067926	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0272	0.80551	0.0:1.0:0.0:0.0	.	.	.	.	X	1112;1112;624	.	.	R	+	1	2	MYO16	108551198	0.800000	0.28916	0.865000	0.33974	0.140000	0.21249	2.984000	0.49353	2.550000	0.86006	0.655000	0.94253	CGA		0.438	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011	
COL4A1	1282	broad.mit.edu	37	13	110864824	110864824	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:110864824T>G	ENST00000375820.4	-	6	448	c.327A>C	c.(325-327)ggA>ggC	p.G109G	COL4A1_ENST00000543140.1_Silent_p.G109G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	109					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)	p.G109G(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCCAGGAATTCCCTGCAATG	0.463																																					p.G109G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A327C	13						.						111.0	130.0	124.0					13																	110864824		2203	4300	6503	109662825	SO:0001819	synonymous_variant	1282	exon6			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.327A>C	13.37:g.110864824T>G			109662825	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	CCDS9511.1																																																																																				0.463	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
F10	2159	broad.mit.edu	37	13	113783802	113783802	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:113783802C>T	ENST00000375559.3	+	2	145	c.107C>T	c.(106-108)gCg>gTg	p.A36V	F10_ENST00000409306.1_Missense_Mutation_p.A36V|F10_ENST00000483537.1_3'UTR|F10-AS1_ENST00000424635.1_RNA|F10_ENST00000375551.3_Missense_Mutation_p.A36V	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	36					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.A36V(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	AACATCCTGGCGAGGGTCACG	0.567																																					p.A36V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C107T	13						.						87.0	83.0	84.0					13																	113783802		2203	4300	6503	112831803	SO:0001583	missense	2159	exon2				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.107C>T	13.37:g.113783802C>T	ENSP00000364709:p.Ala36Val		112831803	NM_000504	Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	9.639	1.138569	0.21123	.	.	ENSG00000126218	ENST00000409306;ENST00000375551;ENST00000375559	D;D;D	0.95724	-3.76;-3.79;-2.93	4.38	-5.52	0.02560	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	1.900540	0.02756	N	0.118001	D	0.88448	0.6439	L	0.33485	1.01	0.09310	N	1	B;B;B	0.26547	0.152;0.152;0.007	B;B;B	0.11329	0.006;0.004;0.003	T	0.78193	-0.2299	10	0.29301	T	0.29	.	0.3271	0.00312	0.3835:0.1483:0.1729:0.2952	.	36;36;36	B7ZBK1;Q5JVE8;P00742	.;.;FA10_HUMAN	V	36	ENSP00000387092:A36V;ENSP00000364701:A36V;ENSP00000364709:A36V	ENSP00000364701:A36V	A	+	2	0	F10	112831803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.778000	0.01778	-1.163000	0.02793	-0.749000	0.03505	GCG		0.567	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3		
CDC16	8881	broad.mit.edu	37	13	115030682	115030682	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:115030682G>A	ENST00000356221.3	+	17	1678	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	CDC16_ENST00000375312.3_Missense_Mutation_p.E379K|CDC16_ENST00000252457.5_Missense_Mutation_p.E523K|CDC16_ENST00000375310.1_Missense_Mutation_p.E430K|CDC16_ENST00000252458.6_Missense_Mutation_p.E379K|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000360383.3_Missense_Mutation_p.E524K|CDC16_ENST00000375308.1_Missense_Mutation_p.E430K			Q13042	CDC16_HUMAN	cell division cycle 16	524					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)		p.E523K(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TCATTGCATCGAAATGTACAT	0.333																																					p.E524K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1570A	13						.						340.0	318.0	325.0					13																	115030682		2203	4300	6503	114048784	SO:0001583	missense	8881	exon17			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1570G>A	13.37:g.115030682G>A	ENSP00000348554:p.Glu524Lys		114048784	NM_001078645	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167610	0.78339	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T	0.76186	-1.0;-1.0	5.79	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	N	0.24115	0.695	0.80722	D	1	D;P;P	0.52996	0.957;0.504;0.744	P;B;B	0.50537	0.643;0.139;0.145	T	0.67507	-0.5653	9	.	.	.	-18.1377	16.2849	0.82714	0.0:0.0:0.8671:0.1329	.	472;523;524	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	K	524;379;524;430;523;430;379	ENSP00000364461:E379K;ENSP00000252458:E379K	.	E	+	1	0	CDC16	114048784	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.777000	0.75028	2.739000	0.93911	0.650000	0.86243	GAA		0.333	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903	
TUBA3C	7278	broad.mit.edu	37	13	19751107	19751107	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:19751107C>T	ENST00000400113.3	-	4	1120	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	339					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R339H(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGGATGGTGCGCTTGGTCTT	0.527																																					p.R339H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016A	13						.						118.0	100.0	106.0					13																	19751107		2203	4300	6503	18649107	SO:0001583	missense	7278	exon4			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1016G>A	13.37:g.19751107C>T	ENSP00000382982:p.Arg339His		18649107	NM_006001	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	8.372	0.835584	0.16820	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84146	-1.81	1.21	1.21	0.21127	.	0.000000	0.44285	U	0.000464	D	0.86548	0.5959	.	.	.	0.45676	D	0.998596	.	.	.	.	.	.	D	0.85853	0.1405	7	0.87932	D	0	.	8.3447	0.32266	0.0:1.0:0.0:0.0	.	.	.	.	H	339	ENSP00000382982:R339H	ENSP00000354037:R339H	R	-	2	0	TUBA3C	18649107	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	6.295000	0.72744	0.976000	0.38417	0.184000	0.17185	CGC		0.527	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
TPTE2	93492	broad.mit.edu	37	13	20025334	20025334	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:20025334C>T	ENST00000400230.2	-	11	817	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	TPTE2_ENST00000390680.2_Missense_Mutation_p.R181Q|TPTE2_ENST00000382978.1_Missense_Mutation_p.R218Q|TPTE2_ENST00000382977.4_Missense_Mutation_p.R258Q|TPTE2_ENST00000457266.2_Missense_Mutation_p.R147Q|TPTE2_ENST00000400103.2_Missense_Mutation_p.R147Q|TPTE2_ENST00000382975.4_Missense_Mutation_p.R218Q|TPTE2_ENST00000255310.6_Missense_Mutation_p.R181Q			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	258	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R181Q(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAGTGGTTTCGATGTTTCTT	0.363																																					p.R147Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G440A	13						.						131.0	116.0	121.0					13																	20025334		2203	4299	6502	18923334	SO:0001583	missense	93492	exon10			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.773G>A	13.37:g.20025334C>T	ENSP00000383089:p.Arg258Gln		18923334	NM_001141968	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	0.190	-1.054100	0.01965	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	2.63	-3.6	0.04570	Phosphatase tensin type (1);	0.996918	0.08131	N	0.993126	T	0.11067	0.0270	N	0.03948	-0.315	0.09310	N	1	B;B;B	0.12013	0.005;0.002;0.003	B;B;B	0.14023	0.01;0.006;0.01	T	0.33777	-0.9855	9	.	.	.	-0.2719	6.4557	0.21928	0.0:0.4108:0.3389:0.2504	.	147;181;258	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	Q	218;147;258;181;181;258;218;147;258;127	ENSP00000372438:R218Q;ENSP00000382974:R147Q;ENSP00000383089:R258Q;ENSP00000255310:R181Q;ENSP00000375098:R181Q;ENSP00000372437:R258Q;ENSP00000372435:R218Q;ENSP00000442218:R147Q	.	R	-	2	0	TPTE2	18923334	0.000000	0.05858	0.000000	0.03702	0.135000	0.20990	-2.361000	0.01083	-0.977000	0.03537	-1.247000	0.01520	CGA		0.363	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	
MPHOSPH8	54737	broad.mit.edu	37	13	20220824	20220824	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:20220824C>A	ENST00000361479.5	+	3	679	c.611C>A	c.(610-612)tCt>tAt	p.S204Y	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.S204Y	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	204	Lys-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)	p.S204Y(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAAAGAATTTCTGAAGCCAAA	0.343																																					p.S204Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C611A	13						.						23.0	25.0	24.0					13																	20220824		2201	4296	6497	19118824	SO:0001583	missense	54737	exon3			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.611C>A	13.37:g.20220824C>A	ENSP00000355388:p.Ser204Tyr		19118824	NM_017520	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	De_novo_Start_OutOfFrame	SNP	ENST00000361479.5	37	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	7.358	0.624236	0.14193	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.37584	1.2;1.19	6.02	-2.7	0.06004	.	1.533340	0.03416	N	0.205597	T	0.27313	0.0670	L	0.38175	1.15	0.09310	N	1	B;B;P	0.37398	0.112;0.279;0.593	B;B;B	0.30943	0.054;0.116;0.122	T	0.35822	-0.9773	10	0.52906	T	0.07	.	9.9825	0.41821	0.0:0.5139:0.1126:0.3735	.	204;204;204	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	Y	204	ENSP00000414663:S204Y;ENSP00000355388:S204Y	ENSP00000355388:S204Y	S	+	2	0	MPHOSPH8	19118824	0.013000	0.17824	0.001000	0.08648	0.538000	0.34931	0.033000	0.13754	-0.694000	0.05113	-0.312000	0.09012	TCT		0.343	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520	
ZMYM5	9205	broad.mit.edu	37	13	20425925	20425925	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:20425925C>A	ENST00000337963.4	-	3	660	c.396G>T	c.(394-396)gaG>gaT	p.E132D	ZMYM5_ENST00000382907.4_Missense_Mutation_p.E132D|ZMYM5_ENST00000382905.4_Missense_Mutation_p.E132D	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	132						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E132D(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AAGACTTTTTCTCTGCTCCTC	0.373																																					p.E132D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G396T	13						.						74.0	78.0	77.0					13																	20425925		2203	4300	6503	19323925	SO:0001583	missense	9205	exon3			AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.396G>T	13.37:g.20425925C>A	ENSP00000337034:p.Glu132Asp		19323925	NM_001039650	B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37		.	.	.	.	.	.	.	.	.	.	C	5.710	0.315521	0.10789	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.41	1.73	0.24493	.	.	.	.	.	T	0.21962	0.0529	L	0.47716	1.5	0.22666	N	0.998877	B;B;B	0.25563	0.005;0.129;0.008	B;B;B	0.20955	0.006;0.032;0.009	T	0.22487	-1.0215	9	0.29301	T	0.29	-1.738	4.0226	0.09672	0.1556:0.5091:0.0:0.3354	.	132;132;132	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	D	132;122;132;132	ENSP00000337034:E132D;ENSP00000445779:E122D;ENSP00000372364:E132D;ENSP00000372361:E132D	ENSP00000337034:E132D	E	-	3	2	ZMYM5	19323925	0.994000	0.37717	0.018000	0.16275	0.205000	0.24178	0.148000	0.16224	0.243000	0.21327	0.491000	0.48974	GAG		0.373	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242	
CRYL1	51084	broad.mit.edu	37	13	20978300	20978300	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:20978300C>T	ENST00000298248.7	-	8	990	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	CRYL1_ENST00000382812.1_Missense_Mutation_p.A288T	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	310					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)	p.A310T(1)		NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TTCAACTTGGCGAGTCTCATG	0.527																																					p.A310T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928A	13						.						102.0	106.0	105.0					13																	20978300		2019	4190	6209	19876300	SO:0001583	missense	51084	exon8			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.928G>A	13.37:g.20978300C>T	ENSP00000298248:p.Ala310Thr		19876300	NM_015974	A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	ENST00000298248.7	37	CCDS41871.1	.	.	.	.	.	.	.	.	.	.	C	9.721	1.159613	0.21454	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.70869	-0.42;-0.52	5.83	0.575	0.17374	.	0.287990	0.43260	D	0.000581	T	0.76285	0.3966	M	0.88775	2.98	0.31202	N	0.699661	D	0.65815	0.995	P	0.48952	0.596	T	0.77225	-0.2666	10	0.48119	T	0.1	-11.5875	10.119	0.42609	0.6843:0.2429:0.0:0.0727	.	310	Q9Y2S2	CRYL1_HUMAN	T	310;288	ENSP00000298248:A310T;ENSP00000372262:A288T	ENSP00000298248:A310T	A	-	1	0	CRYL1	19876300	0.297000	0.24408	0.005000	0.12908	0.140000	0.21249	0.640000	0.24705	-0.227000	0.09884	-0.397000	0.06425	GCC		0.527	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044071.1	NM_015974	
N6AMT2	221143	broad.mit.edu	37	13	21331600	21331600	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:21331600C>A	ENST00000382758.1	-	2	185	c.138G>T	c.(136-138)gaG>gaT	p.E46D	N6AMT2_ENST00000382754.4_Missense_Mutation_p.E46D|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	46						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)	p.E46D(1)		endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTACCCAATTCTCTTCTATTA	0.418																																					p.E46D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G138T	13						.						215.0	193.0	201.0					13																	21331600		2203	4300	6503	20229600	SO:0001583	missense	221143	exon2			AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.138G>T	13.37:g.21331600C>A	ENSP00000372206:p.Glu46Asp		20229600	NM_174928	B5G4V1	Missense_Mutation	SNP	ENST00000382758.1	37	CCDS9293.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890498	0.52014	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	T;T	0.66995	-0.24;-0.24	5.52	1.84	0.25277	.	0.118916	0.56097	D	0.000034	D	0.83589	0.5287	M	0.93150	3.385	0.49483	D	0.999799	D	0.89917	1.0	D	0.91635	0.999	D	0.84164	0.0430	10	0.87932	D	0	.	9.6804	0.40067	0.0:0.6924:0.0:0.3076	.	46	Q8WVE0	N6MT2_HUMAN	D	46	ENSP00000372206:E46D;ENSP00000372202:E46D	ENSP00000372202:E46D	E	-	3	2	N6AMT2	20229600	1.000000	0.71417	0.991000	0.47740	0.441000	0.31987	0.702000	0.25631	0.395000	0.25257	-0.145000	0.13849	GAG		0.418	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928	
LATS2	26524	broad.mit.edu	37	13	21557817	21557817	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:21557817G>A	ENST00000382592.4	-	5	2433	c.2028C>T	c.(2026-2028)atC>atT	p.I676I	LATS2_ENST00000542899.1_Silent_p.I676I	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.I676I(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CAAAGGCACCGATCCCCAGGG	0.483																																					p.I676I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2028T	13						.						111.0	105.0	107.0					13																	21557817		2203	4300	6503	20455817	SO:0001819	synonymous_variant	26524	exon5			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2028C>T	13.37:g.21557817G>A			20455817	NM_014572		Silent	SNP	ENST00000382592.4	37	CCDS9294.1																																																																																				0.483	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1		
FGF9	2254	broad.mit.edu	37	13	22255225	22255225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:22255225C>T	ENST00000382353.5	+	2	852	c.322C>T	c.(322-324)Cga>Tga	p.R108*		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	108					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.R108*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGTCAGCATTCGAGGCGTGGA	0.493																																					p.R108X	Melanoma(195;1939 2127 12623 13963 52730)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C322T	13						.						146.0	136.0	139.0					13																	22255225		2203	4300	6503	21153225	SO:0001587	stop_gained	2254	exon2			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.322C>T	13.37:g.22255225C>T	ENSP00000371790:p.Arg108*		21153225	NM_002010	A8K427|Q3SY32	Nonsense_Mutation	SNP	ENST00000382353.5	37	CCDS9298.1	.	.	.	.	.	.	.	.	.	.	C	44	10.802091	0.99470	.	.	ENSG00000102678	ENST00000382353	.	.	.	5.62	5.62	0.85841	.	0.204155	0.34700	N	0.003753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.635	0.95728	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000371790:R108X	R	+	1	2	FGF9	21153225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.583000	0.53928	2.804000	0.96469	0.655000	0.94253	CGA		0.493	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2		
SGCG	6445	broad.mit.edu	37	13	23777933	23777933	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:23777933C>T	ENST00000218867.3	+	2	224	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	SGCG_ENST00000537476.1_Missense_Mutation_p.R34C|SGCG_ENST00000545013.1_Missense_Mutation_p.R34C	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	34					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.R34C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CTGGAGAAAGCGCTGTCTCTA	0.418																																					p.R34C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C100T	13						.						227.0	191.0	203.0					13																	23777933		2203	4300	6503	22675933	SO:0001583	missense	6445	exon2			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"""Maghrebian myopathy (autosomal recessive)"", ""35kD dystrophin-associated glycoprotein"", ""limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)"", ""gamma sarcoglycan"""	608896	"""sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"""	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.100C>T	13.37:g.23777933C>T	ENSP00000218867:p.Arg34Cys		22675933	NM_000231	Q32M32|Q5T9J6	Missense_Mutation	SNP	ENST00000218867.3	37	CCDS9299.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907319	0.72868	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.95238	-3.65;-3.65;-3.65	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96574	0.9425	10	0.38643	T	0.18	-13.2449	19.2802	0.94050	0.0:1.0:0.0:0.0	.	34	Q13326	SGCG_HUMAN	C	34	ENSP00000218867:R34C;ENSP00000444100:R34C;ENSP00000442232:R34C	ENSP00000218867:R34C	R	+	1	0	SGCG	22675933	1.000000	0.71417	0.998000	0.56505	0.806000	0.45545	5.327000	0.65881	2.570000	0.86706	0.655000	0.94253	CGC		0.418	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044151.1	NM_000231	
SACS	26278	broad.mit.edu	37	13	23904858	23904858	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:23904858C>T	ENST00000382292.3	-	9	13430	c.13157G>A	c.(13156-13158)cGa>cAa	p.R4386Q	SACS_ENST00000402364.1_Missense_Mutation_p.R3636Q|SACS_ENST00000382298.3_Missense_Mutation_p.R4386Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4386	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.R4239Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGACTGAAATCGGGATGCTGA	0.373																																					p.R4386Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13157A	13						.						99.0	100.0	99.0					13																	23904858		2203	4300	6503	22802858	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13157G>A	13.37:g.23904858C>T	ENSP00000371729:p.Arg4386Gln		22802858	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	32	5.124494	0.94429	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89681	-2.38;-2.55;-2.38	5.8	5.8	0.92144	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.91917	0.5544	10	0.56958	D	0.05	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	4386	Q9NZJ4	SACS_HUMAN	Q	4386;3636;4386	ENSP00000371729:R4386Q;ENSP00000385844:R3636Q;ENSP00000371735:R4386Q	ENSP00000371729:R4386Q	R	-	2	0	SACS	22802858	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.818000	0.86416	2.730000	0.93505	0.563000	0.77884	CGA		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23908186	23908186	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:23908186C>A	ENST00000382292.3	-	9	10102	c.9829G>T	c.(9829-9831)Gac>Tac	p.D3277Y	SACS_ENST00000402364.1_Missense_Mutation_p.D2527Y|SACS_ENST00000382298.3_Missense_Mutation_p.D3277Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3277					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.D3130Y(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATGCCCAGTCTTTTAGAGTA	0.403																																					p.D3277Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9829T	13						.						103.0	94.0	97.0					13																	23908186		2203	4298	6501	22806186	SO:0001583	missense	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9829G>T	13.37:g.23908186C>A	ENSP00000371729:p.Asp3277Tyr		22806186	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944576	0.73672	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88586	-2.26;-2.4;-2.26	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.91606	0.7348	L	0.29908	0.895	0.58432	D	0.999993	D	0.89917	1.0	D	0.75484	0.986	D	0.92404	0.5932	10	0.72032	D	0.01	.	19.6453	0.95775	0.0:1.0:0.0:0.0	.	3277	Q9NZJ4	SACS_HUMAN	Y	3277;2527;3277	ENSP00000371729:D3277Y;ENSP00000385844:D2527Y;ENSP00000371735:D3277Y	ENSP00000371729:D3277Y	D	-	1	0	SACS	22806186	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.776000	0.85560	2.720000	0.93068	0.555000	0.69702	GAC		0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23913577	23913577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:23913577C>A	ENST00000382292.3	-	9	4711	c.4438G>T	c.(4438-4440)Gaa>Taa	p.E1480*	SACS_ENST00000402364.1_Nonsense_Mutation_p.E730*|SACS_ENST00000382298.3_Nonsense_Mutation_p.E1480*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1480					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E1333*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAGTAGTTCTTTAAAAATA	0.363																																					p.E1480X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4438T	13						.						72.0	72.0	72.0					13																	23913577		2203	4299	6502	22811577	SO:0001587	stop_gained	26278	exon10			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4438G>T	13.37:g.23913577C>A	ENSP00000371729:p.Glu1480*		22811577	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	55	23.451959	0.99955	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0413	0.97592	0.0:1.0:0.0:0.0	.	.	.	.	X	1480;730;1480	.	ENSP00000371729:E1480X	E	-	1	0	SACS	22811577	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	GAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23929713	23929713	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:23929713C>T	ENST00000382292.3	-	7	1311	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Silent_p.P346P			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	346					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.P199P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTATAGAATTCGGCCGCTCAT	0.398																																					p.P346P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1038A	13						.						79.0	82.0	81.0					13																	23929713		2203	4300	6503	22827713	SO:0001819	synonymous_variant	26278	exon8			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1038G>A	13.37:g.23929713C>T			22827713	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.394468	0.01175	.	.	ENSG00000151835	ENST00000455470	.	.	.	5.72	-11.4	0.00090	.	.	.	.	.	T	0.37489	0.1005	.	.	.	0.34229	D	0.676256	.	.	.	.	.	.	T	0.48714	-0.9011	4	.	.	.	.	8.617	0.33838	0.0577:0.0878:0.3605:0.494	.	.	.	.	K	246	.	.	E	-	1	0	SACS	22827713	0.089000	0.21612	0.000000	0.03702	0.001000	0.01503	-0.785000	0.04628	-3.174000	0.00224	-0.897000	0.02905	GAA		0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	broad.mit.edu	37	13	23929924	23929924	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:23929924C>T	ENST00000382292.3	-	7	1100	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank|SACS_ENST00000382298.3_Missense_Mutation_p.R276H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	276					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.R129H(2)|p.R276H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTTGTAGGCGAAGAGGGAA	0.413																																					p.R276H												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.G827A	13						.						106.0	102.0	103.0					13																	23929924		2203	4300	6503	22827924	SO:0001583	missense	26278	exon8			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.827G>A	13.37:g.23929924C>T	ENSP00000371729:p.Arg276His		22827924	NM_014363	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	30	5.050368	0.93740	.	.	ENSG00000151835	ENST00000382292;ENST00000382298	D;D	0.96041	-3.89;-3.89	5.64	5.64	0.86602	ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98235	0.9416	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98260	1.0498	10	0.56958	D	0.05	.	20.0769	0.97748	0.0:1.0:0.0:0.0	.	175;63;276	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	H	276	ENSP00000371729:R276H;ENSP00000371735:R276H	ENSP00000371729:R276H	R	-	2	0	SACS	22827924	1.000000	0.71417	0.986000	0.45419	0.853000	0.48598	7.776000	0.85560	2.820000	0.97059	0.650000	0.86243	CGC		0.413	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
TNFRSF19	55504	broad.mit.edu	37	13	24190124	24190124	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:24190124G>A	ENST00000382258.4	+	4	503	c.299G>A	c.(298-300)cGc>cAc	p.R100H	TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.R100H|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.R100H	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	100					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.R100H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTGGTGAACCGCTTTCAGAAG	0.532																																					p.R100H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G299A	13						.						101.0	95.0	97.0					13																	24190124		2203	4300	6503	23088124	SO:0001583	missense	55504	exon4			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.299G>A	13.37:g.24190124G>A	ENSP00000371693:p.Arg100His		23088124	NM_148957	A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132864	0.94517	.	.	ENSG00000127863	ENST00000248484;ENST00000382258;ENST00000382263	T;T;T	0.24723	1.84;1.84;1.84	5.46	5.46	0.80206	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.61826	-0.6983	10	0.66056	D	0.02	-30.8975	19.3032	0.94151	0.0:0.0:1.0:0.0	.	100;100	Q9NS68;Q9NS68-2	TNR19_HUMAN;.	H	100	ENSP00000248484:R100H;ENSP00000371693:R100H;ENSP00000371698:R100H	ENSP00000248484:R100H	R	+	2	0	TNFRSF19	23088124	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.476000	0.97823	2.576000	0.86940	0.561000	0.74099	CGC		0.532	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647	
C1QTNF9B	387911	broad.mit.edu	37	13	24465742	24465742	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:24465742C>T	ENST00000382140.2	-	5	748	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|MIPEP_ENST00000382172.3_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.E230K|C1QTNF9B_ENST00000382145.1_Intron|MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B_ENST00000556521.1_Intron			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	230	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)		p.E230K(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TGGTTGAATTCATTATACAGG	0.428																																					p.E230K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G688A	13						.						67.0	62.0	64.0					13																	24465742		2201	4293	6494	23363742	SO:0001583	missense	387911	exon3			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.688G>A	13.37:g.24465742C>T	ENSP00000371575:p.Glu230Lys		23363742	NM_001007537	A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382140.2	37	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	1.498	-0.552833	0.03996	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.93906	-3.31;-3.31	3.96	3.08	0.35506	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.666605	0.15858	N	0.241198	D	0.91246	0.7241	M	0.71296	2.17	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	D	0.84202	0.0451	10	0.42905	T	0.14	.	10.183	0.42980	0.0:0.7942:0.0:0.2058	.	230	B2RNN3	C1T9B_HUMAN	K	230	ENSP00000371572:E230K;ENSP00000371575:E230K	ENSP00000371572:E230K	E	-	1	0	C1QTNF9B	23363742	0.000000	0.05858	0.014000	0.15608	0.031000	0.12232	0.724000	0.25954	1.950000	0.56595	0.456000	0.33151	GAA		0.428	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044162.3	NM_001007537	
SPATA13	221178	broad.mit.edu	37	13	24863310	24863310	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:24863310T>C	ENST00000382095.4	+	7	1373	c.966T>C	c.(964-966)ctT>ctC	p.L322L	SPATA13_ENST00000409126.1_Silent_p.L182L|SPATA13_ENST00000399949.2_Silent_p.L244L|SPATA13_ENST00000424834.2_Silent_p.L947L|SPATA13_ENST00000343003.6_Silent_p.L266L|RP11-307N16.6_ENST00000382141.4_Silent_p.L825L|SPATA13_ENST00000382108.3_Silent_p.L947L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	322	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L322L(1)		breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CTTGCTTTCTTCAAAATGTGC	0.328																																					p.L947L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2841C	13						.						75.0	64.0	68.0					13																	24863310		2203	4300	6503	23761310	SO:0001819	synonymous_variant	221178	exon8			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.966T>C	13.37:g.24863310T>C			23761310	NM_001166271	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Silent	SNP	ENST00000382095.4	37	CCDS9305.1	.	.	.	.	.	.	.	.	.	.	T	7.627	0.678021	0.14841	.	.	ENSG00000182957	ENST00000424834	.	.	.	5.24	-2.29	0.06805	.	.	.	.	.	T	0.50154	0.1599	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43278	-0.9401	4	.	.	.	.	6.2504	0.20842	0.0:0.2616:0.3455:0.3929	.	.	.	.	P	985	.	.	S	+	1	0	SPATA13	23761310	0.063000	0.20901	0.838000	0.33150	0.805000	0.45488	-0.720000	0.04969	-0.288000	0.09051	0.379000	0.24179	TCA		0.328	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023	
ATP12A	479	broad.mit.edu	37	13	25281162	25281162	+	Splice_Site	SNP	A	A	G	rs373330777		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:25281162A>G	ENST00000381946.3	+	16	2338	c.2171A>G	c.(2170-2172)gAt>gGt	p.D724G	ATP12A_ENST00000218548.6_Splice_Site_p.D730G			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	724				DAVV -> VGGQ (in Ref. 7; CAA49478). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.D724G(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CCGCCATAGGATGCTGTTGTT	0.562																																					p.D730G	Pancreas(156;1582 1935 18898 22665 26498)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2189G	13						.						61.0	54.0	56.0					13																	25281162		2203	4300	6503	24179162	SO:0001630	splice_region_variant	479	exon16			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2170-1A>G	13.37:g.25281162A>G			24179162	NM_001185085	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.772057	0.00645	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.99105	-5.43;-5.43	5.81	1.58	0.23477	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.354917	0.30051	N	0.010530	D	0.86180	0.5871	N	0.00032	-2.585	0.30001	N	0.816048	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.85621	0.1264	10	0.02654	T	1	.	5.956	0.19273	0.7014:0.1366:0.162:0.0	.	730;724	P54707-2;P54707	.;AT12A_HUMAN	G	730;724	ENSP00000218548:D730G;ENSP00000371372:D724G	ENSP00000218548:D730G	D	+	2	0	ATP12A	24179162	0.990000	0.36364	0.223000	0.23860	0.006000	0.05464	2.403000	0.44530	0.047000	0.15862	-0.460000	0.05396	GAT		0.562	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	Missense_Mutation
RNF17	56163	broad.mit.edu	37	13	25367200	25367200	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:25367200A>T	ENST00000255324.5	+	10	1008	c.956A>T	c.(955-957)gAa>gTa	p.E319V	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Missense_Mutation_p.E319V|RNF17_ENST00000381921.1_Missense_Mutation_p.E319V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	319					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E319V(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAAGAAAATGAAATTAGACAG	0.328																																					p.E319V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A956T	13						.						57.0	61.0	60.0					13																	25367200		2203	4299	6502	24265200	SO:0001583	missense	56163	exon10			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.956A>T	13.37:g.25367200A>T	ENSP00000255324:p.Glu319Val		24265200	NM_001184993	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601397	0.66445	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.26957	2.8;2.81;1.7	5.22	4.01	0.46588	.	0.402748	0.23416	N	0.048417	T	0.36193	0.0958	L	0.34521	1.04	0.34448	D	0.70037	P;D;D	0.89917	0.956;0.994;1.0	P;P;D	0.91635	0.551;0.779;0.999	T	0.48068	-0.9067	10	0.54805	T	0.06	.	8.8877	0.35414	0.8112:0.1888:0.0:0.0	.	319;319;319	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	V	319;319;178;320;319	ENSP00000255324:E319V;ENSP00000371346:E319V;ENSP00000255325:E320V	ENSP00000255324:E319V	E	+	2	0	RNF17	24265200	1.000000	0.71417	0.823000	0.32752	0.897000	0.52465	2.506000	0.45433	0.967000	0.38186	0.528000	0.53228	GAA		0.328	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	
CENPJ	55835	broad.mit.edu	37	13	25458188	25458188	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:25458188G>A	ENST00000381884.4	-	16	3922	c.3737C>T	c.(3736-3738)aCg>aTg	p.T1246M	CENPJ_ENST00000493190.1_5'Flank|CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1246					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.T1246M(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTCAGGAAACGTGATTTCTTT	0.358																																					p.T1246M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3737T	13						.						158.0	148.0	151.0					13																	25458188		2203	4300	6503	24356188	SO:0001583	missense	55835	exon16			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3737C>T	13.37:g.25458188G>A	ENSP00000371308:p.Thr1246Met		24356188	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080515	0.76528	.	.	ENSG00000151849	ENST00000381884	T	0.77229	-1.08	5.93	5.93	0.95920	.	0.089181	0.85682	D	0.000000	D	0.85544	0.5721	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.85501	0.1191	10	0.56958	D	0.05	.	13.1199	0.59321	0.0766:0.0:0.9234:0.0	.	1246	Q9HC77	CENPJ_HUMAN	M	1246	ENSP00000371308:T1246M	ENSP00000371308:T1246M	T	-	2	0	CENPJ	24356188	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.014000	0.70784	2.815000	0.96918	0.561000	0.74099	ACG		0.358	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
CENPJ	55835	broad.mit.edu	37	13	25463526	25463526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:25463526G>A	ENST00000381884.4	-	11	3414	c.3229C>T	c.(3229-3231)Cga>Tga	p.R1077*	CENPJ_ENST00000545981.1_Intron	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1077					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.R1077*(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTTGAAATCGAACAGATGTG	0.294																																					p.R1077X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3229T	13						.						85.0	96.0	92.0					13																	25463526		2203	4297	6500	24361526	SO:0001587	stop_gained	55835	exon11			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3229C>T	13.37:g.25463526G>A	ENSP00000371308:p.Arg1077*		24361526	NM_018451	Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Nonsense_Mutation	SNP	ENST00000381884.4	37	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.086572|3.086572	0.55861|0.55861	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000381884;ENST00000445729|ENST00000418179	.|.	.|.	.|.	4.82|4.82	1.75|1.75	0.24633|0.24633	.|.	0.618279|.	0.16118|.	N|.	0.228776|.	.|T	.|0.23766	.|0.0575	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.20472	.|-1.0274	.|4	0.11485|.	T|.	0.65|.	.|.	3.0176|3.0176	0.06065|0.06065	0.2464:0.0:0.5429:0.2107|0.2464:0.0:0.5429:0.2107	.|.	.|.	.|.	.|.	X|L	1077|158	.|.	ENSP00000371308:R1077X|.	R|S	-|-	1|2	2|0	CENPJ|CENPJ	24361526|24361526	0.280000|0.280000	0.24249|0.24249	0.002000|0.002000	0.10522|0.10522	0.747000|0.747000	0.42532|0.42532	1.601000|1.601000	0.36773|0.36773	0.663000|0.663000	0.31027|0.31027	0.551000|0.551000	0.68910|0.68910	CGA|TCG		0.294	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	
PABPC3	5042	broad.mit.edu	37	13	25670420	25670420	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:25670420C>T	ENST00000281589.3	+	1	121	c.84C>T	c.(82-84)taC>taT	p.Y28Y		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	28	RRM 1. {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)	p.Y28Y(1)		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)		CGATGCTCTACGAGAAGTTCA	0.627																																					p.Y28Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C84T	13						.						76.0	73.0	74.0					13																	25670420		2203	4300	6503	24568420	SO:0001819	synonymous_variant	5042	exon1			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.84C>T	13.37:g.25670420C>T			24568420	NM_030979	Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.627	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
PABPC3	5042	broad.mit.edu	37	13	25671874	25671874	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:25671874G>A	ENST00000281589.3	+	1	1575	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	513					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.R513H(1)		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)		GCGGGAGTTCGCAATCCTCAG	0.532																																					p.R513H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1538A	13						.						72.0	66.0	68.0					13																	25671874		2203	4300	6503	24569874	SO:0001583	missense	5042	exon1			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.1538G>A	13.37:g.25671874G>A	ENSP00000281589:p.Arg513His		24569874	NM_030979	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487626	0.26686	.	.	ENSG00000151846	ENST00000281589	T	0.46451	0.87	1.0	1.0	0.19881	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.44483	U	0.000459	T	0.36717	0.0977	M	0.65975	2.015	0.46954	D	0.999263	B	0.16603	0.018	B	0.14578	0.011	T	0.33904	-0.9850	10	0.52906	T	0.07	.	7.8319	0.29347	0.0:0.0:1.0:0.0	.	513	Q9H361	PABP3_HUMAN	H	513	ENSP00000281589:R513H	ENSP00000281589:R513H	R	+	2	0	PABPC3	24569874	1.000000	0.71417	0.415000	0.26534	0.050000	0.14768	5.943000	0.70211	0.837000	0.34925	0.462000	0.41574	CGC		0.532	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
ATP8A2	51761	broad.mit.edu	37	13	26156085	26156085	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:26156085G>A	ENST00000381655.2	+	23	2278	c.2136G>A	c.(2134-2136)gcG>gcA	p.A712A	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.A672A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	672					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A712A(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AAGAAACTGCGATTAATATAG	0.333																																					p.A712A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2136A	13						.						63.0	60.0	61.0					13																	26156085		1811	4074	5885	25054085	SO:0001819	synonymous_variant	51761	exon23			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2136G>A	13.37:g.26156085G>A			25054085	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	CCDS41873.1																																																																																				0.333	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
RNF6	6049	broad.mit.edu	37	13	26789577	26789577	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:26789577G>A	ENST00000381588.4	-	5	1194	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	RNF6_ENST00000381570.3_Missense_Mutation_p.R148W|RNF6_ENST00000346166.3_Missense_Mutation_p.R148W|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	148					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R148W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AAACTAAACCGAAACTCTCCA	0.408																																					p.R148W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C442T	13						.						126.0	113.0	117.0					13																	26789577		2203	4300	6503	25687577	SO:0001583	missense	6049	exon5			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.442C>T	13.37:g.26789577G>A	ENSP00000371000:p.Arg148Trp		25687577	NM_005977	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746182	0.69418	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.14893	2.47;2.47;2.47	4.49	3.62	0.41486	.	0.077334	0.53938	D	0.000058	T	0.34193	0.0889	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.06285	-1.0835	10	0.87932	D	0	-4.9174	8.2848	0.31922	0.0:0.156:0.5498:0.2943	.	148	Q9Y252	RNF6_HUMAN	W	148	ENSP00000342121:R148W;ENSP00000371000:R148W;ENSP00000370982:R148W	ENSP00000342121:R148W	R	-	1	2	RNF6	25687577	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.928000	0.63447	1.068000	0.40764	0.557000	0.71058	CGG		0.408	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
WASF3	10810	broad.mit.edu	37	13	27259937	27259937	+	Missense_Mutation	SNP	C	C	A	rs199603100		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:27259937C>A	ENST00000335327.5	+	10	1642	c.1464C>A	c.(1462-1464)gaC>gaA	p.D488E	WASF3_ENST00000361042.4_Missense_Mutation_p.D485E	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	488					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AGTACAGCGACTCTGACGACG	0.617																																					p.D488E												.	.	0			c.C1464A	13						.						101.0	80.0	87.0					13																	27259937		2203	4300	6503	26157937	SO:0001583	missense	10810	exon10			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1464C>A	13.37:g.27259937C>A	ENSP00000335055:p.Asp488Glu		26157937	NM_006646	O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372763	0.42003	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.59364	0.28;0.27	5.64	-2.31	0.06765	.	0.088393	0.85682	D	0.000000	T	0.40119	0.1104	L	0.35644	1.08	0.52099	D	0.999942	P;P	0.40050	0.7;0.7	B;B	0.34991	0.193;0.055	T	0.20940	-1.0260	10	0.35671	T	0.21	-33.6984	12.8975	0.58108	0.0:0.1675:0.0:0.8325	.	485;488	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	E	485;488	ENSP00000354325:D485E;ENSP00000335055:D488E	ENSP00000335055:D488E	D	+	3	2	WASF3	26157937	0.652000	0.27349	0.883000	0.34634	0.874000	0.50279	-0.191000	0.09601	-0.379000	0.07906	0.561000	0.74099	GAC		0.617	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		
LNX2	222484	broad.mit.edu	37	13	28127441	28127441	+	Missense_Mutation	SNP	G	G	A	rs540471303		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:28127441G>A	ENST00000316334.3	-	8	1811	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	561					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)	p.A561V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GTTCTGAGTCGCCTCCTCAAC	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15737	0.0		0.0	False		,,,				2504	0.0				p.A561V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1682T	13						.						99.0	89.0	93.0					13																	28127441		2203	4300	6503	27025441	SO:0001583	missense	222484	exon8			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1682C>T	13.37:g.28127441G>A	ENSP00000325929:p.Ala561Val		27025441	NM_153371	Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	G	7.328	0.618311	0.14129	.	.	ENSG00000139517	ENST00000316334	T	0.05717	3.4	6.1	1.37	0.22104	.	0.637143	0.17484	N	0.172592	T	0.04679	0.0127	L	0.36672	1.1	0.09310	N	0.999999	B	0.14438	0.01	B	0.09377	0.004	T	0.38908	-0.9639	10	0.31617	T	0.26	.	4.2655	0.10761	0.3296:0.0:0.3565:0.3139	.	561	Q8N448	LNX2_HUMAN	V	561	ENSP00000325929:A561V	ENSP00000325929:A561V	A	-	2	0	LNX2	27025441	0.943000	0.32029	0.002000	0.10522	0.105000	0.19272	1.503000	0.35715	0.269000	0.21961	-1.000000	0.02509	GCG		0.537	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2		
FLT1	2321	broad.mit.edu	37	13	28877366	28877366	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:28877366C>T	ENST00000282397.4	-	30	4206	c.3955G>A	c.(3955-3957)Gcg>Acg	p.A1319T	FLT1_ENST00000543394.1_Missense_Mutation_p.A342T|FLT1_ENST00000540678.1_Missense_Mutation_p.A537T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1319					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.A1319T(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGCAGCACGCGATTTTCCTT	0.562																																					p.A1319T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3955A	13						.						91.0	81.0	84.0					13																	28877366		2203	4300	6503	27775366	SO:0001583	missense	2321	exon30			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3955G>A	13.37:g.28877366C>T	ENSP00000282397:p.Ala1319Thr		27775366	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	2.373	-0.343857	0.05208	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.77489	-0.86;-1.07;-1.1	4.54	0.669	0.17918	.	0.834868	0.10257	N	0.696466	T	0.53433	0.1796	N	0.08118	0	0.09310	N	1	B	0.24426	0.103	B	0.16289	0.015	T	0.33189	-0.9878	10	0.18710	T	0.47	.	7.2018	0.25885	0.3853:0.5235:0.0912:0.0	.	1319	P17948	VGFR1_HUMAN	T	1319;342;537	ENSP00000282397:A1319T;ENSP00000437841:A342T;ENSP00000443311:A537T	ENSP00000282397:A1319T	A	-	1	0	FLT1	27775366	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.097000	0.11042	-0.023000	0.13963	-0.474000	0.04947	GCG		0.562	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
FLT1	2321	broad.mit.edu	37	13	28895610	28895610	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:28895610C>T	ENST00000282397.4	-	23	3415	c.3164G>A	c.(3163-3165)aGa>aAa	p.R1055K	FLT1_ENST00000543394.1_Missense_Mutation_p.R78K|FLT1_ENST00000540678.1_Missense_Mutation_p.R273K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1055	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.R1055K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCTCCTTTTCTCACATAATC	0.393																																					p.R1055K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3164A	13						.						125.0	125.0	125.0					13																	28895610		2203	4300	6503	27793610	SO:0001583	missense	2321	exon23			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3164G>A	13.37:g.28895610C>T	ENSP00000282397:p.Arg1055Lys		27793610	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940760	0.92526	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.81579	-1.51;-1.51;-1.51	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77356	0.4118	N	0.05510	-0.035	0.80722	D	1	D	0.57899	0.981	D	0.63597	0.916	T	0.70894	-0.4748	10	0.06099	T	0.92	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	1055	P17948	VGFR1_HUMAN	K	1055;78;273	ENSP00000282397:R1055K;ENSP00000437841:R78K;ENSP00000443311:R273K	ENSP00000282397:R1055K	R	-	2	0	FLT1	27793610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.779000	0.95612	0.655000	0.94253	AGA		0.393	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
FLT1	2321	broad.mit.edu	37	13	29041736	29041736	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:29041736T>G	ENST00000282397.4	-	2	334	c.83A>C	c.(82-84)aAa>aCa	p.K28T	FLT1_ENST00000541932.1_Missense_Mutation_p.K28T|FLT1_ENST00000539099.1_Missense_Mutation_p.K28T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	28					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCTTTTAATTTTGAACCTGA	0.363																																					p.K28T												.	.	0			c.A83C	13						.						84.0	75.0	78.0					13																	29041736		2203	4300	6503	27939736	SO:0001583	missense	2321	exon2			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.83A>C	13.37:g.29041736T>G	ENSP00000282397:p.Lys28Thr		27939736	NM_002019	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177375	0.38413	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000450836;ENST00000539099	T;T;T	0.25085	1.82;1.82;1.82	5.64	1.64	0.23874	Tyrosine-protein kinase, vascular endothelial growth factor receptor 1 (VEGFR1), N-terminal (1);	0.119134	0.56097	D	0.000036	T	0.12860	0.0312	L	0.27053	0.805	0.33018	D	0.528496	B;B;B;B;B	0.28760	0.051;0.041;0.221;0.013;0.002	B;B;B;B;B	0.23150	0.018;0.012;0.044;0.012;0.005	T	0.13045	-1.0524	10	0.35671	T	0.21	.	3.1503	0.06485	0.1323:0.0712:0.2762:0.5203	.	28;28;28;28;28	P17948-4;P17948-3;B5A924;P17948-2;P17948	.;.;.;.;VGFR1_HUMAN	T	28	ENSP00000282397:K28T;ENSP00000437631:K28T;ENSP00000442630:K28T	ENSP00000282397:K28T	K	-	2	0	FLT1	27939736	1.000000	0.71417	0.032000	0.17829	0.991000	0.79684	1.425000	0.34859	0.055000	0.16094	0.477000	0.44152	AAA		0.363	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
MTUS2	23281	broad.mit.edu	37	13	30062051	30062051	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:30062051C>T	ENST00000380808.2	+	4	567	c.351C>T	c.(349-351)acC>acT	p.T117T	MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Silent_p.T1148T|MTUS2_ENST00000542829.1_Silent_p.T27T|MTUS2-AS1_ENST00000323380.5_RNA	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1138						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.T1148T(1)|p.T117T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGATCTCACCGCCAGCCATG	0.522																																					p.T1148T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3444T	13						.						97.0	101.0	99.0					13																	30062051		2088	4223	6311	28960051	SO:0001819	synonymous_variant	23281	exon9			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.351C>T	13.37:g.30062051C>T			28960051	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000380808.2	37	CCDS41874.1																																																																																				0.522	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270	
MTUS2	23281	broad.mit.edu	37	13	30066842	30066842	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:30066842C>T	ENST00000380808.2	+	5	718	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	MTUS2_ENST00000431530.3_Missense_Mutation_p.R1199W|MTUS2_ENST00000542829.1_Missense_Mutation_p.R78W|MTUS2-AS1_ENST00000323380.5_RNA	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1189						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R1199W(1)|p.R168W(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGAAAAACTGCGGCTGTCATT	0.358																																					p.R1199W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3595T	13						.						87.0	81.0	83.0					13																	30066842		1814	4078	5892	28964842	SO:0001583	missense	23281	exon10			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.502C>T	13.37:g.30066842C>T	ENSP00000370186:p.Arg168Trp		28964842	NM_001033602	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000380808.2	37	CCDS41874.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374216	0.61735	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.20881	2.52;2.04;3.01	5.15	2.27	0.28462	.	0.129113	0.52532	D	0.000073	T	0.42017	0.1184	M	0.76574	2.34	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.10042	-1.0647	9	.	.	.	.	9.6747	0.40034	0.2825:0.5806:0.1369:0.0	.	168;1189	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	W	1199;168;78;125	ENSP00000392057:R1199W;ENSP00000370186:R168W;ENSP00000445403:R78W	.	R	+	1	2	MTUS2	28964842	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	1.313000	0.33585	0.126000	0.18424	0.596000	0.82720	CGG		0.358	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044335.2	XM_166270	
KATNAL1	84056	broad.mit.edu	37	13	30804689	30804689	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:30804689C>A	ENST00000380615.3	-	8	1095	c.928G>T	c.(928-930)Gat>Tat	p.D310Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D310Y	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1									p.D310Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CAGATAGAATCTATCTCATCA	0.353																																					p.D310Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G928T	13						.						76.0	72.0	73.0					13																	30804689		2203	4300	6503	29702689	SO:0001583	missense	84056	exon8			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"""ATPases / AAA-type"""	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.928G>T	13.37:g.30804689C>A	ENSP00000369989:p.Asp310Tyr		29702689	NM_032116		Missense_Mutation	SNP	ENST00000380615.3	37	CCDS31956.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747996	0.89663	.	.	ENSG00000102781	ENST00000380615;ENST00000380617	D;D	0.95918	-3.85;-3.85	5.46	5.46	0.80206	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99572	1.0971	10	0.87932	D	0	-39.3859	19.2969	0.94126	0.0:1.0:0.0:0.0	.	310	Q9BW62	KATL1_HUMAN	Y	310	ENSP00000369989:D310Y;ENSP00000369991:D310Y	ENSP00000369989:D310Y	D	-	1	0	KATNAL1	29702689	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.773000	0.85462	2.543000	0.85770	0.591000	0.81541	GAT		0.353	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044346.2	NM_032116	
USPL1	10208	broad.mit.edu	37	13	31231902	31231902	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:31231902A>G	ENST00000255304.4	+	9	2030	c.1688A>G	c.(1687-1689)gAc>gGc	p.D563G		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	563					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.D563G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CTTTCACAGGACACAGCTGTA	0.428																																					p.D563G	Ovarian(60;318 1180 1554 28110 31601)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1688G	13						.						119.0	118.0	118.0					13																	31231902		2203	4300	6503	30129902	SO:0001583	missense	10208	exon9			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.1688A>G	13.37:g.31231902A>G	ENSP00000255304:p.Asp563Gly		30129902	NM_005800	Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	A	9.194	1.026702	0.19512	.	.	ENSG00000132952	ENST00000255304	T	0.06933	3.24	5.63	-3.09	0.05331	.	1.349460	0.04413	N	0.366389	T	0.03695	0.0105	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.40059	-0.9583	10	0.21014	T	0.42	-0.7001	1.295	0.02067	0.4108:0.2511:0.217:0.1211	.	563	Q5W0Q7	USPL1_HUMAN	G	563	ENSP00000255304:D563G	ENSP00000255304:D563G	D	+	2	0	USPL1	30129902	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	0.075000	0.14686	-0.483000	0.06772	0.533000	0.62120	GAC		0.428	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800	
FRY	10129	broad.mit.edu	37	13	32749726	32749726	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:32749726C>A	ENST00000380250.3	+	20	2874	c.2378C>A	c.(2377-2379)tCt>tAt	p.S793Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	793						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S793Y(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGCTAAGTTCTTCCATTCTA	0.418																																					p.S793Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2378A	13						.						168.0	160.0	163.0					13																	32749726		1915	4122	6037	31647726	SO:0001583	missense	10129	exon20			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2378C>A	13.37:g.32749726C>A	ENSP00000369600:p.Ser793Tyr		31647726	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925297	0.92319	.	.	ENSG00000073910	ENST00000380250	T	0.24538	1.85	5.9	5.9	0.94986	.	0.167726	0.56097	D	0.000037	T	0.27559	0.0677	N	0.14661	0.345	0.80722	D	1	P	0.42203	0.773	P	0.48901	0.594	T	0.02121	-1.1210	10	0.35671	T	0.21	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	793	Q5TBA9	FRY_HUMAN	Y	793	ENSP00000369600:S793Y	ENSP00000369600:S793Y	S	+	2	0	FRY	31647726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.704000	0.68347	2.788000	0.95919	0.650000	0.86243	TCT		0.418	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
FRY	10129	broad.mit.edu	37	13	32839599	32839599	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:32839599C>T	ENST00000380250.3	+	54	8288	c.7792C>T	c.(7792-7794)Cgt>Tgt	p.R2598C	FRY_ENST00000542859.1_5'UTR	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2598						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R2598C(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGAAGCTGTTCGTGAGGAGGA	0.443																																					p.R2598C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7792T	13						.						112.0	105.0	108.0					13																	32839599		1924	4152	6076	31737599	SO:0001583	missense	10129	exon54			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7792C>T	13.37:g.32839599C>T	ENSP00000369600:p.Arg2598Cys		31737599	NM_023037	Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399538	0.83120	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	T	0.23552	1.9	5.33	3.49	0.39957	.	0.805545	0.12064	N	0.502907	T	0.19127	0.0459	N	0.14661	0.345	0.30696	N	0.750769	B;B	0.31435	0.229;0.323	B;B	0.35550	0.009;0.205	T	0.20472	-1.0274	10	0.56958	D	0.05	.	12.853	0.57869	0.1287:0.7472:0.1241:0.0	.	379;2598	Q8NB82;Q5TBA9	.;FRY_HUMAN	C	2598;242	ENSP00000369600:R2598C	ENSP00000369567:R242C	R	+	1	0	FRY	31737599	0.000000	0.05858	0.025000	0.17156	0.761000	0.43186	1.053000	0.30442	1.374000	0.46228	0.561000	0.74099	CGT		0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
BRCA2	675	broad.mit.edu	37	13	32906611	32906611	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:32906611T>G	ENST00000380152.3	+	10	1229	c.996T>G	c.(994-996)atT>atG	p.I332M	BRCA2_ENST00000544455.1_Missense_Mutation_p.I332M			P51587	BRCA2_HUMAN	breast cancer 2, early onset	332					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.I332M(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGAAAAAAATTTTCCATGAAG	0.294			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.I332M	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T996G	13						.						60.0	69.0	66.0					13																	32906611		2203	4298	6501	31804611	SO:0001583	missense	675	exon10	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.996T>G	13.37:g.32906611T>G	ENSP00000369497:p.Ile332Met		31804611	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	5.281	0.237342	0.10023	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00816	5.66;5.66	5.53	1.43	0.22495	.	1.367590	0.04693	N	0.414453	T	0.01695	0.0054	L	0.47190	1.495	0.09310	N	1	P;B	0.44578	0.838;0.176	P;B	0.47206	0.541;0.06	T	0.42258	-0.9462	10	0.49607	T	0.09	.	2.4079	0.04417	0.1516:0.0847:0.1579:0.6059	.	332;332	P51587;A1YBP1	BRCA2_HUMAN;.	M	332;332;330	ENSP00000369497:I332M;ENSP00000439902:I332M	ENSP00000369497:I332M	I	+	3	3	BRCA2	31804611	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.033000	0.13754	0.016000	0.14998	0.496000	0.49642	ATT		0.294	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32914965	32914965	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:32914965T>G	ENST00000380152.3	+	11	6706	c.6473T>G	c.(6472-6474)tTt>tGt	p.F2158C	BRCA2_ENST00000544455.1_Missense_Mutation_p.F2158C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2158					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.F2158C(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCTCTCAATTTCAACAAGAC	0.318			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.F2158C	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T6473G	13						.						40.0	42.0	41.0					13																	32914965		2203	4296	6499	31812965	SO:0001583	missense	675	exon11	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6473T>G	13.37:g.32914965T>G	ENSP00000369497:p.Phe2158Cys		31812965	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	3.147	-0.175020	0.06421	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.79247	-1.25;-1.25	5.34	-0.599	0.11645	.	0.798338	0.11285	N	0.579892	T	0.66963	0.2843	L	0.59436	1.845	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.55029	-0.8204	10	0.41790	T	0.15	.	2.0927	0.03660	0.2466:0.0781:0.3617:0.3136	.	2158	P51587	BRCA2_HUMAN	C	2158	ENSP00000369497:F2158C;ENSP00000439902:F2158C	ENSP00000369497:F2158C	F	+	2	0	BRCA2	31812965	0.017000	0.18338	0.000000	0.03702	0.018000	0.09664	-0.011000	0.12721	0.002000	0.14630	0.482000	0.46254	TTT		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	broad.mit.edu	37	13	32954279	32954279	+	Missense_Mutation	SNP	A	A	G	rs397507423|rs276174918|rs276174917		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:32954279A>G	ENST00000380152.3	+	24	9486	c.9253A>G	c.(9253-9255)Aca>Gca	p.T3085A	BRCA2_ENST00000544455.1_Missense_Mutation_p.T3085A			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3085					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.T3085A(2)|p.?(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTGAAAAAAACAGGTAATGC	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											p.T3085A	Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	.	.	3	Substitution - Missense(2)|Unknown(1)	large_intestine(2)|ovary(1)	c.A9253G	13	GRCh37	CI012549	BRCA2	I	rs80359752	.						52.0	51.0	51.0					13																	32954279		2203	4300	6503	31852279	SO:0001583	missense	675	exon24	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9253A>G	13.37:g.32954279A>G	ENSP00000369497:p.Thr3085Ala		31852279	NM_000059	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	10.70	1.422933	0.25639	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.81330	-1.48;-1.48	5.5	1.59	0.23543	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.524598	0.22752	N	0.056061	T	0.61426	0.2346	N	0.17082	0.46	0.25779	N	0.984742	B	0.25850	0.136	B	0.21151	0.033	T	0.51957	-0.8639	10	0.36615	T	0.2	.	7.0621	0.25131	0.64:0.2406:0.1194:0.0	.	3085	P51587	BRCA2_HUMAN	A	3085	ENSP00000369497:T3085A;ENSP00000439902:T3085A	ENSP00000369497:T3085A	T	+	1	0	BRCA2	31852279	0.733000	0.28132	0.998000	0.56505	0.917000	0.54804	0.863000	0.27913	1.000000	0.39049	0.528000	0.53228	ACA		0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
N4BP2L1	90634	broad.mit.edu	37	13	32972706	32972706	+	IGR	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:32972706T>G	ENST00000380130.2	-	0	3046				BRCA2_ENST00000544455.1_Silent_p.L3352L|BRCA2_ENST00000380152.3_Silent_p.L3352L	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1									p.L3352L(2)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		CCCAAGCTCTTTTGTCTGGTT	0.368																																					p.L3352L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T10056G	13						.						62.0	65.0	64.0					13																	32972706		2203	4300	6503	31870706	SO:0001628	intergenic_variant	675	exon27			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972706T>G			31870706	NM_000059	A4QN21|Q5TBK0	Silent	SNP	ENST00000380130.2	37	CCDS9345.2																																																																																				0.368	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818	
PDS5B	23047	broad.mit.edu	37	13	33349185	33349185	+	Nonsense_Mutation	SNP	C	C	T	rs199518025		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:33349185C>T	ENST00000315596.10	+	35	4525	c.4339C>T	c.(4339-4341)Cga>Tga	p.R1447*		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1447					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R1447*(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAGGGAACGGCGATGAACAAA	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15661	0.0		0.0	False		,,,				2504	0.0				p.R1447X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4339T	13						.						102.0	93.0	96.0					13																	33349185		1799	4070	5869	32247185	SO:0001587	stop_gained	23047	exon35			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.4339C>T	13.37:g.33349185C>T	ENSP00000313851:p.Arg1447*		32247185	NM_015032	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Nonsense_Mutation	SNP	ENST00000315596.10	37	CCDS41878.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	44	10.554866	0.99427	.	.	ENSG00000083642	ENST00000315596	.	.	.	5.51	5.51	0.81932	.	0.158380	0.38663	N	0.001616	.	.	.	.	.	.	0.51233	D	0.99991	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3158	17.5999	0.88023	0.0:1.0:0.0:0.0	.	.	.	.	X	1447	.	ENSP00000313851:R1447X	R	+	1	2	PDS5B	32247185	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	3.290000	0.51755	2.581000	0.87130	0.655000	0.94253	CGA		0.348	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032	
NBEA	26960	broad.mit.edu	37	13	35692599	35692599	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:35692599G>T	ENST00000400445.3	+	16	2765	c.2231G>T	c.(2230-2232)aGa>aTa	p.R744I	NBEA_ENST00000379939.2_Missense_Mutation_p.R744I|NBEA_ENST00000540320.1_Missense_Mutation_p.R744I|NBEA_ENST00000310336.4_Missense_Mutation_p.R744I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	744					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R744I(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTGATCAAAGAAATGGAATA	0.338																																					p.R744I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2231T	13						.						39.0	35.0	36.0					13																	35692599		1826	4068	5894	34590599	SO:0001583	missense	26960	exon16			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2231G>T	13.37:g.35692599G>T	ENSP00000383295:p.Arg744Ile		34590599	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279764	0.80692	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	3.96	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.48259	0.1490	M	0.72479	2.2	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.44667	-0.9313	10	0.23302	T	0.38	.	16.4162	0.83743	0.0:0.0:1.0:0.0	.	744	Q5T321	.	I	744	ENSP00000440951:R744I;ENSP00000383295:R744I;ENSP00000369271:R744I;ENSP00000308534:R744I	ENSP00000308534:R744I	R	+	2	0	NBEA	34590599	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.474000	0.97718	1.926000	0.55796	0.454000	0.30748	AGA		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	broad.mit.edu	37	13	35733188	35733188	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:35733188A>C	ENST00000400445.3	+	22	3414	c.2880A>C	c.(2878-2880)aaA>aaC	p.K960N	NBEA_ENST00000379939.2_Missense_Mutation_p.K960N|NBEA_ENST00000540320.1_Missense_Mutation_p.K960N|NBEA_ENST00000310336.4_Missense_Mutation_p.K960N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	960					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.K960N(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCTAGCCAAAATGTATGAGG	0.338																																					p.K960N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2880C	13						.						62.0	57.0	58.0					13																	35733188		1830	4090	5920	34631188	SO:0001583	missense	26960	exon22			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2880A>C	13.37:g.35733188A>C	ENSP00000383295:p.Lys960Asn		34631188	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	5.023	0.190018	0.09547	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.25	1.43	0.22495	.	0.115441	0.56097	D	0.000028	T	0.32315	0.0825	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03993	-1.0986	10	0.16896	T	0.51	.	9.0897	0.36603	0.7893:0.0:0.2107:0.0	.	960	Q5T321	.	N	960	ENSP00000440951:K960N;ENSP00000383295:K960N;ENSP00000369271:K960N;ENSP00000308534:K960N	ENSP00000308534:K960N	K	+	3	2	NBEA	34631188	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.368000	0.34216	0.031000	0.15407	0.477000	0.44152	AAA		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	broad.mit.edu	37	13	36124683	36124683	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:36124683C>T	ENST00000400445.3	+	42	7189	c.6655C>T	c.(6655-6657)Cgt>Tgt	p.R2219C	NBEA_ENST00000379939.2_Missense_Mutation_p.R2216C|NBEA_ENST00000537702.1_Missense_Mutation_p.R12C|NBEA_ENST00000540320.1_Missense_Mutation_p.R2219C|NBEA_ENST00000310336.4_Missense_Mutation_p.R2219C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2219					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R2219C(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTTCAAGACGTTACCTTCT	0.353																																					p.R2219C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6655T	13						.						96.0	90.0	92.0					13																	36124683		1844	4098	5942	35022683	SO:0001583	missense	26960	exon42			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6655C>T	13.37:g.36124683C>T	ENSP00000383295:p.Arg2219Cys		35022683	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838571	0.91117	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.61980	0.08;0.08;0.08;0.08;0.06	5.69	5.69	0.88448	PH-BEACH domain (1);	0.045710	0.85682	D	0.000000	D	0.83903	0.5355	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	0.99;1.0	P;D	0.79108	0.852;0.992	D	0.86597	0.1864	10	0.87932	D	0	.	19.8263	0.96618	0.0:1.0:0.0:0.0	.	2219;2216	Q8NFP9;Q5T321	NBEA_HUMAN;.	C	2219;2219;2216;2219;846;12;12	ENSP00000440951:R2219C;ENSP00000383295:R2219C;ENSP00000369271:R2216C;ENSP00000308534:R2219C;ENSP00000440233:R12C	ENSP00000308534:R2219C	R	+	1	0	NBEA	35022683	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.992000	0.70609	2.676000	0.91093	0.655000	0.94253	CGT		0.353	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	broad.mit.edu	37	13	36241564	36241564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:36241564G>T	ENST00000400445.3	+	56	8989	c.8455G>T	c.(8455-8457)Gga>Tga	p.G2819*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.G2816*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.G612*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.G2819*|NBEA_ENST00000379922.3_Nonsense_Mutation_p.G397*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.G2819*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2819					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.G2819*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGCCCTTGAAGGACCAGAAAA	0.493																																					p.G2819X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G8455T	13						.						114.0	117.0	116.0					13																	36241564		1986	4156	6142	35139564	SO:0001587	stop_gained	26960	exon56			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8455G>T	13.37:g.36241564G>T	ENSP00000383295:p.Gly2819*		35139564	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	42	9.784693	0.99263	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	.	.	.	5.73	5.73	0.89815	.	0.058755	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.8966	0.96963	0.0:0.0:1.0:0.0	.	.	.	.	X	2819;2819;2816;2819;1448;397;612;397	.	ENSP00000308534:G2819X	G	+	1	0	NBEA	35139564	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	9.576000	0.98192	2.700000	0.92200	0.655000	0.94253	GGA		0.493	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
DCLK1	9201	broad.mit.edu	37	13	36402442	36402442	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:36402442G>A	ENST00000360631.3	-	9	1443	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L	DCLK1_ENST00000255448.4_Missense_Mutation_p.S411L|DCLK1_ENST00000379893.1_Missense_Mutation_p.S104L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.S411L(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTAGCAGTCGATCTGCGAAG	0.328																																					p.S104L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C311T	13						.						75.0	70.0	71.0					13																	36402442		2202	4298	6500	35300442	SO:0001583	missense	9201	exon5			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1232C>T	13.37:g.36402442G>A	ENSP00000353846:p.Ser411Leu		35300442	NM_001195416	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	G	34	5.303588	0.95601	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.66995	-0.24;-0.24;-0.24	6.08	6.08	0.98989	.	0.061993	0.64402	D	0.000003	T	0.56307	0.1976	N	0.17312	0.475	0.80722	D	1	P;P;B	0.50528	0.756;0.936;0.427	B;B;B	0.42462	0.145;0.388;0.103	T	0.61113	-0.7128	10	0.52906	T	0.07	.	19.2272	0.93822	0.0:0.0:1.0:0.0	.	104;411;104	O15075-4;O15075-2;O15075-3	.;.;.	L	103;411;411;104;411	ENSP00000255448:S411L;ENSP00000353846:S411L;ENSP00000369223:S104L	ENSP00000255448:S411L	S	-	2	0	DCLK1	35300442	1.000000	0.71417	0.974000	0.42286	0.944000	0.59088	8.839000	0.92120	2.894000	0.99253	0.655000	0.94253	TCG		0.328	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
SOHLH2	54937	broad.mit.edu	37	13	36776117	36776117	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:36776117C>A	ENST00000379881.3	-	2	250	c.162G>T	c.(160-162)aaG>aaT	p.K54N	SOHLH2_ENST00000317764.6_Missense_Mutation_p.K54N|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.K131N|SOHLH2_ENST00000554962.1_Missense_Mutation_p.K131N	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	54					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K54N(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CTGCTGCCTCCTTCGTGTCAC	0.448																																					p.K54N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G162T	13						.						156.0	120.0	132.0					13																	36776117		2203	4300	6503	35674117	SO:0001583	missense	54937	exon2			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.162G>T	13.37:g.36776117C>A	ENSP00000369210:p.Lys54Asn		35674117	NM_017826	B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475046	0.26511	.	.	ENSG00000120669;ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000317764;ENST00000511166	T;T;T;T	0.55052	1.12;1.12;0.54;1.12	5.49	2.82	0.32997	.	0.485962	0.19144	N	0.121616	T	0.46678	0.1405	L	0.32530	0.975	0.09310	N	1	P;D	0.54047	0.906;0.964	P;P	0.50314	0.521;0.637	T	0.32798	-0.9893	10	0.72032	D	0.01	1.2215	6.7856	0.23672	0.0:0.7181:0.0:0.2819	.	131;54	B4DX90;Q9NX45	.;SOLH2_HUMAN	N	54;131;54;131	ENSP00000369210:K54N;ENSP00000451542:K131N;ENSP00000326838:K54N;ENSP00000421868:K131N	ENSP00000421868:K131N	K	-	3	2	CCDC169-SOHLH2;SOHLH2	35674117	0.001000	0.12720	0.005000	0.12908	0.006000	0.05464	0.264000	0.18497	0.694000	0.31654	0.655000	0.94253	AAG		0.448	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
SPG20	23111	broad.mit.edu	37	13	36909193	36909193	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:36909193C>T	ENST00000451493.1	-	2	992	c.775G>A	c.(775-777)Gat>Aat	p.D259N	SPG20_ENST00000355182.4_Missense_Mutation_p.D259N|SPG20_ENST00000494062.2_Missense_Mutation_p.D259N|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.D259N	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	259					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.D259N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGAACCGTATCGAGAGAATTA	0.383																																					p.D259N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	13						.						92.0	98.0	96.0					13																	36909193		2203	4300	6503	35807193	SO:0001583	missense	23111	exon2			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.775G>A	13.37:g.36909193C>T	ENSP00000414147:p.Asp259Asn		35807193	NM_001142295	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485019	0.84854	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.89875	-2.58;-2.58;-2.58	5.82	5.82	0.92795	.	0.148772	0.64402	D	0.000013	D	0.90349	0.6980	L	0.54323	1.7	0.46222	D	0.99893	D;D;D	0.69078	0.997;0.984;0.997	P;B;P	0.51701	0.677;0.413;0.677	D	0.87214	0.2249	10	0.21014	T	0.42	-36.2299	20.1064	0.97896	0.0:1.0:0.0:0.0	.	259;259;259	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	N	259	ENSP00000406061:D259N;ENSP00000347314:D259N;ENSP00000414147:D259N	ENSP00000347314:D259N	D	-	1	0	SPG20	35807193	1.000000	0.71417	0.994000	0.49952	0.864000	0.49448	5.356000	0.66052	2.745000	0.94114	0.650000	0.86243	GAT		0.383	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		
SPG20	23111	broad.mit.edu	37	13	36909276	36909276	+	Missense_Mutation	SNP	A	A	C	rs377161254		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:36909276A>C	ENST00000451493.1	-	2	909	c.692T>G	c.(691-693)tTt>tGt	p.F231C	SPG20_ENST00000355182.4_Missense_Mutation_p.F231C|SPG20_ENST00000494062.2_Missense_Mutation_p.F231C|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Missense_Mutation_p.F231C	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	231					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)	p.F231C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ATTTACAAAAAAAATCTGTAC	0.433																																					p.F231C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T692G	13						.						64.0	67.0	66.0					13																	36909276		2203	4300	6503	35807276	SO:0001583	missense	23111	exon2			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.692T>G	13.37:g.36909276A>C	ENSP00000414147:p.Phe231Cys		35807276	NM_001142295	O60349|Q86Y67|Q9H1T2|Q9H1T3	Missense_Mutation	SNP	ENST00000451493.1	37	CCDS9356.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.396979	0.83120	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	D;D;D	0.95622	-3.76;-3.76;-3.76	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97467	0.9171	M	0.75615	2.305	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.97965	1.0340	10	0.62326	D	0.03	-26.6494	16.188	0.81967	1.0:0.0:0.0:0.0	.	231;231;231	A8K6Q9;B3KMI3;Q8N0X7	.;.;SPG20_HUMAN	C	231	ENSP00000406061:F231C;ENSP00000347314:F231C;ENSP00000414147:F231C	ENSP00000347314:F231C	F	-	2	0	SPG20	35807276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.521000	0.90569	2.216000	0.71823	0.528000	0.53228	TTT		0.433	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044494.2		
SUPT20H	55578	broad.mit.edu	37	13	37614587	37614587	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:37614587A>C	ENST00000350612.6	-	9	742	c.522T>G	c.(520-522)atT>atG	p.I174M	SUPT20H_ENST00000360252.4_Missense_Mutation_p.I175M|SUPT20H_ENST00000464744.1_Missense_Mutation_p.I175M|SUPT20H_ENST00000542180.1_Missense_Mutation_p.I162M|SUPT20H_ENST00000356185.3_Missense_Mutation_p.I175M|SUPT20H_ENST00000475892.1_Missense_Mutation_p.I174M|SUPT20H_ENST00000470359.2_5'UTR	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	174					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.I174M(1)									GTACATCACAAATTAAAGTCT	0.249																																					p.I175M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T525G	13						.						35.0	39.0	38.0					13																	37614587		2194	4290	6484	36512587	SO:0001583	missense	55578	exon9			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.522T>G	13.37:g.37614587A>C	ENSP00000218894:p.Ile174Met		36512587	NM_017569	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307550	0.60305	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180;ENST00000497318	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.92	3.22	0.36961	.	0.107097	0.64402	D	0.000007	T	0.36853	0.0982	L	0.27053	0.805	0.42300	D	0.992179	B;B;B;B;P;B	0.36683	0.004;0.058;0.209;0.077;0.565;0.389	B;B;B;B;P;P	0.50896	0.051;0.119;0.233;0.264;0.452;0.653	T	0.27226	-1.0080	10	0.39692	T	0.17	-1.7395	2.717	0.05190	0.3393:0.0:0.4603:0.2004	.	162;174;174;175;175;174	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	M	175;174;174;175;174;175;162;175	ENSP00000353388:I175M;ENSP00000417510:I174M;ENSP00000218894:I174M;ENSP00000348512:I175M;ENSP00000419754:I175M;ENSP00000439000:I162M;ENSP00000420170:I175M	ENSP00000218894:I174M	I	-	3	3	FAM48A	36512587	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.491000	0.35583	0.815000	0.34398	-0.248000	0.11899	ATT		0.249	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
POSTN	10631	broad.mit.edu	37	13	38154719	38154719	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:38154719A>C	ENST00000379747.4	-	11	1625	c.1508T>G	c.(1507-1509)tTa>tGa	p.L503*	POSTN_ENST00000379749.4_Nonsense_Mutation_p.L503*|POSTN_ENST00000379743.4_Nonsense_Mutation_p.L503*|POSTN_ENST00000379742.4_Nonsense_Mutation_p.L503*|POSTN_ENST00000541481.1_Nonsense_Mutation_p.L503*|POSTN_ENST00000541179.1_Nonsense_Mutation_p.L503*	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	503	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.L503*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATCTTGTTTTAACTTTTCATG	0.438																																					p.L503X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1508G	13						.						289.0	276.0	281.0					13																	38154719		2203	4300	6503	37052719	SO:0001587	stop_gained	10631	exon11			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1508T>G	13.37:g.38154719A>C	ENSP00000369071:p.Leu503*		37052719	NM_001135934	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Nonsense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	38	7.055375	0.98032	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5485	15.0317	0.71713	1.0:0.0:0.0:0.0	.	.	.	.	X	503	.	ENSP00000369066:L503X	L	-	2	0	POSTN	37052719	0.972000	0.33761	0.064000	0.19789	0.965000	0.64279	8.620000	0.90943	2.000000	0.58554	0.455000	0.32223	TTA		0.438	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	
POSTN	10631	broad.mit.edu	37	13	38162027	38162027	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:38162027T>G	ENST00000379747.4	-	5	655	c.538A>C	c.(538-540)Aaa>Caa	p.K180Q	POSTN_ENST00000379749.4_Missense_Mutation_p.K180Q|POSTN_ENST00000379743.4_Missense_Mutation_p.K180Q|POSTN_ENST00000379742.4_Missense_Mutation_p.K180Q|POSTN_ENST00000541481.1_Missense_Mutation_p.K180Q|POSTN_ENST00000541179.1_Missense_Mutation_p.K180Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	180	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.K180Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATGCCATTTTTTAAGTCCTTG	0.333																																					p.K180Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A538C	13						.						99.0	97.0	98.0					13																	38162027		2203	4297	6500	37060027	SO:0001583	missense	10631	exon5			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.538A>C	13.37:g.38162027T>G	ENSP00000369071:p.Lys180Gln		37060027	NM_001135934	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.904237	0.52333	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	5.82	5.82	0.92795	FAS1 domain (5);	0.040815	0.85682	D	0.000000	D	0.92932	0.7751	L	0.50993	1.605	0.48185	D	0.999609	D;P;D;D;P;D;D	0.67145	0.96;0.915;0.996;0.985;0.95;0.995;0.996	P;P;D;P;P;D;D	0.68039	0.765;0.653;0.955;0.853;0.653;0.949;0.955	D	0.90982	0.4828	10	0.21540	T	0.41	-19.262	16.1777	0.81874	0.0:0.0:0.0:1.0	.	180;180;180;180;180;180;180	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	Q	180;180;180;180;180;180;97	ENSP00000437959:K180Q;ENSP00000369073:K180Q;ENSP00000369071:K180Q;ENSP00000369067:K180Q;ENSP00000369066:K180Q;ENSP00000437953:K180Q	ENSP00000369066:K180Q	K	-	1	0	POSTN	37060027	1.000000	0.71417	0.388000	0.26195	0.103000	0.19146	7.672000	0.83956	2.222000	0.72286	0.383000	0.25322	AAA		0.333	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	
TRPC4	7223	broad.mit.edu	37	13	38211382	38211382	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:38211382G>T	ENST00000379705.3	-	11	3449	c.2592C>A	c.(2590-2592)atC>atA	p.I864I	TRPC4_ENST00000379679.1_Silent_p.I691I|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Silent_p.I691I|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Silent_p.I869I|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000355779.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	864	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.I869I(1)|p.I864I(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAACAGAGAAGATTTGGTTTG	0.408																																					p.I864I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2592A	13						.						83.0	80.0	81.0					13																	38211382		2203	4299	6502	37109382	SO:0001819	synonymous_variant	7223	exon11			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2592C>A	13.37:g.38211382G>T			37109382	NM_016179	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Silent	SNP	ENST00000379705.3	37	CCDS9365.1																																																																																				0.408	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
TRPC4	7223	broad.mit.edu	37	13	38237742	38237742	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:38237742G>T	ENST00000379705.3	-	6	2356	c.1499C>A	c.(1498-1500)tCt>tAt	p.S500Y	TRPC4_ENST00000379679.1_Missense_Mutation_p.S327Y|TRPC4_ENST00000447043.1_Missense_Mutation_p.S500Y|TRPC4_ENST00000338947.5_Missense_Mutation_p.S327Y|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.S500Y|TRPC4_ENST00000379681.3_Missense_Mutation_p.S500Y|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000358477.2_Missense_Mutation_p.S500Y|TRPC4_ENST00000355779.2_Missense_Mutation_p.S500Y			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	500					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S500Y(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCCAGGTGAGAATTTGCAGT	0.443																																					p.S500Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1499A	13						.						89.0	88.0	88.0					13																	38237742		2203	4300	6503	37135742	SO:0001583	missense	7223	exon6			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1499C>A	13.37:g.38237742G>T	ENSP00000369027:p.Ser500Tyr		37135742	NM_001135957	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893710	0.91889	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	L	0.43554	1.36	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.996;0.99;0.994;0.997;0.991;0.997	D	0.99698	1.1003	10	0.66056	D	0.02	-19.1072	20.6634	0.99662	0.0:0.0:1.0:0.0	.	500;500;500;327;500;500	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Y	500;500;327;327;500;500;500;500	ENSP00000369027:S500Y;ENSP00000369003:S500Y;ENSP00000342580:S327Y;ENSP00000369001:S327Y;ENSP00000348025:S500Y;ENSP00000351264:S500Y;ENSP00000368995:S500Y;ENSP00000414316:S500Y	ENSP00000342580:S327Y	S	-	2	0	TRPC4	37135742	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.860000	0.99555	2.894000	0.99253	0.655000	0.94253	TCT		0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
FREM2	341640	broad.mit.edu	37	13	39265333	39265333	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:39265333G>A	ENST00000280481.7	+	1	4068	c.3852G>A	c.(3850-3852)ggG>ggA	p.G1284G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1284					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G1284G(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TAACAGATGGGAAGCACTCTG	0.418																																					p.G1284G												FREM2,central_nervous_system,brain,Substitution - coding silent,0 	.	2	Substitution - coding silent(2)	large_intestine(1)|central_nervous_system(1)	c.G3852A	13						.						179.0	174.0	176.0					13																	39265333		2203	4300	6503	38163333	SO:0001819	synonymous_variant	341640	exon1			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3852G>A	13.37:g.39265333G>A			38163333	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	CCDS31960.1																																																																																				0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
COG6	57511	broad.mit.edu	37	13	40261654	40261654	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:40261654A>C	ENST00000455146.3	+	9	853	c.803A>C	c.(802-804)gAa>gCa	p.E268A	COG6_ENST00000416691.1_Missense_Mutation_p.E268A	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	268					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.E268A(1)		NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACCTTAGATGAATTTGGAACA	0.403																																					p.E268A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A803C	13						.						79.0	83.0	82.0					13																	40261654		2203	4300	6503	39159654	SO:0001583	missense	57511	exon9			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.803A>C	13.37:g.40261654A>C	ENSP00000397441:p.Glu268Ala		39159654	NM_001145079	Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654596	0.88056	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.56611	0.45;0.45	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.73764	-0.3880	10	0.31617	T	0.26	-17.1181	15.1058	0.72322	1.0:0.0:0.0:0.0	.	289;268	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	A	268;299;268	ENSP00000403733:E268A;ENSP00000397441:E268A	ENSP00000255468:E299A	E	+	2	0	COG6	39159654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.662000	0.91130	2.161000	0.67846	0.482000	0.46254	GAA		0.403	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3		
FOXO1	2308	broad.mit.edu	37	13	41134523	41134523	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:41134523C>T	ENST00000379561.5	-	2	1489	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	369	Required for interaction with RUNX2. {ECO:0000250}.|Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|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)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.E369K(2)	PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		TCCATGTTTTCGGGATTGCTT	0.473																																					p.E369K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1105A	13						.						179.0	168.0	172.0					13																	41134523		2203	4300	6503	40032523	SO:0001583	missense	2308	exon2				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.1105G>A	13.37:g.41134523C>T	ENSP00000368880:p.Glu369Lys		40032523	NM_002015	O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612810	0.46631	.	.	ENSG00000150907	ENST00000379561	D	0.94280	-3.39	5.33	5.33	0.75918	.	0.297222	0.37577	N	0.002021	D	0.94758	0.8308	L	0.50919	1.6	0.52099	D	0.999941	D;B	0.89917	1.0;0.307	D;B	0.80764	0.994;0.029	D	0.91707	0.5378	10	0.07644	T	0.81	-13.7095	18.0252	0.89266	0.0:1.0:0.0:0.0	.	343;369	F8TAD1;Q12778	.;FOXO1_HUMAN	K	369	ENSP00000368880:E369K	ENSP00000368880:E369K	E	-	1	0	FOXO1	40032523	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.487000	0.81328	2.504000	0.84457	0.563000	0.77884	GAA		0.473	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3	NM_002015	
VWA8	23078	broad.mit.edu	37	13	42265546	42265546	+	Missense_Mutation	SNP	C	C	T	rs375909557		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:42265546C>T	ENST00000379310.3	-	32	3844	c.3776G>A	c.(3775-3777)cGa>cAa	p.R1259Q	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1259						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1259Q(1)									GGTGTGAGTTCGCCCTTCTAG	0.448																																					p.R1259Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3776A	13						.	C	GLN/ARG	0,3898		0,0,1949	146.0	141.0	142.0		3776	2.1	0.9	13		142	1,8279		0,1,4139	no	missense	KIAA0564	NM_015058.1	43	0,1,6088	TT,TC,CC		0.0121,0.0,0.0082	benign	1259/1906	42265546	1,12177	1949	4140	6089	41163546	SO:0001583	missense	23078	exon32			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3776G>A	13.37:g.42265546C>T	ENSP00000368612:p.Arg1259Gln		41163546	NM_015058	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	9.468	1.094987	0.20471	0.0	1.21E-4	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000478987	T	0.09163	3.01	6.07	2.09	0.27110	.	0.358966	0.25774	N	0.028384	T	0.03220	0.0094	N	0.04203	-0.255	0.09310	N	0.999998	B	0.13594	0.008	B	0.04013	0.001	T	0.37865	-0.9687	10	0.16420	T	0.52	.	0.7722	0.01026	0.218:0.377:0.1411:0.2639	.	1259	A3KMH1	K0564_HUMAN	Q	1163;1259;30	ENSP00000368612:R1259Q	ENSP00000251030:R1163Q	R	-	2	0	KIAA0564	41163546	0.000000	0.05858	0.913000	0.36048	0.965000	0.64279	-0.419000	0.07071	0.725000	0.32318	-0.137000	0.14449	CGA		0.448	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
TNFSF11	8600	broad.mit.edu	37	13	43175020	43175020	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:43175020G>A	ENST00000239849.6	+	4	586	c.435G>A	c.(433-435)gcG>gcA	p.A145A	TNFSF11_ENST00000544862.1_Splice_Site_p.A72A|TNFSF11_ENST00000398795.2_Splice_Site_p.A72A|TNFSF11_ENST00000358545.2_Splice_Site_p.A72A|TNFSF11_ENST00000405262.2_Splice_Site_p.A72A			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	145					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.A145A(1)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	CATCTCCAGCGATGGTGGATG	0.453																																					p.A145A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G435A	13						.						144.0	136.0	139.0					13																	43175020		2203	4300	6503	42073020	SO:0001630	splice_region_variant	8600	exon4			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.434-1G>A	13.37:g.43175020G>A			42073020	NM_003701	O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	CCDS9384.1																																																																																				0.453	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2		Silent
TNFSF11	8600	broad.mit.edu	37	13	43180898	43180898	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:43180898G>A	ENST00000239849.6	+	5	949	c.798G>A	c.(796-798)ggG>ggA	p.G266G	TNFSF11_ENST00000544862.1_Silent_p.G193G|TNFSF11_ENST00000398795.2_Silent_p.G193G|TNFSF11_ENST00000358545.2_Silent_p.G193G|TNFSF11_ENST00000405262.2_Silent_p.G193G			O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	266					activation of JUN kinase activity (GO:0007257)|bone resorption (GO:0045453)|calcium ion homeostasis (GO:0055074)|cytokine-mediated signaling pathway (GO:0019221)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|monocyte chemotaxis (GO:0002548)|organ morphogenesis (GO:0009887)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of bone resorption (GO:0045780)|positive regulation of corticotropin-releasing hormone secretion (GO:0051466)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast development (GO:2001206)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	cytokine activity (GO:0005125)|tumor necrosis factor receptor binding (GO:0005164)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.G266G(1)		kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)	Denosumab(DB06643)|Lenalidomide(DB00480)	ATTGGTCAGGGAATTCTGAAT	0.423																																					p.G266G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G798A	13						.						108.0	104.0	105.0					13																	43180898		2203	4300	6503	42078898	SO:0001819	synonymous_variant	8600	exon5			AF013171	CCDS9384.1, CCDS9385.1	13q14	2008-02-05			ENSG00000120659	ENSG00000120659		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11926	protein-coding gene	gene with protein product		602642				9312132, 9367155	Standard	NM_003701		Approved	TRANCE, RANKL, OPGL, ODF, CD254	uc001uyu.2	O14788	OTTHUMG00000016807	ENST00000239849.6:c.798G>A	13.37:g.43180898G>A			42078898	NM_003701	O14723|Q96Q17|Q9P2Q3	Silent	SNP	ENST00000239849.6	37	CCDS9384.1																																																																																				0.423	TNFSF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044702.2		
ENOX1	55068	broad.mit.edu	37	13	43930243	43930243	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:43930243C>T	ENST00000261488.6	-	8	1212	c.635G>A	c.(634-636)gGc>gAc	p.G212D	ENOX1_ENST00000540032.1_Missense_Mutation_p.G25D|ENOX1_ENST00000412891.1_Missense_Mutation_p.G212D	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	212	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.G212D(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATGAAGGCGGCCTGAATCCTT	0.532																																					p.G212D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G635A	13						.						68.0	64.0	65.0					13																	43930243		2203	4300	6503	42828243	SO:0001583	missense	55068	exon8			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.635G>A	13.37:g.43930243C>T	ENSP00000261488:p.Gly212Asp		42828243	NM_001127615	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017083	0.93404	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.74209	-0.82;-0.82	5.43	5.43	0.79202	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.85396	0.5687	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.86437	0.1764	10	0.87932	D	0	0.3089	19.2593	0.93961	0.0:1.0:0.0:0.0	.	25;212	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	D	212;212;25	ENSP00000261488:G212D;ENSP00000415054:G212D	ENSP00000261488:G212D	G	-	2	0	ENOX1	42828243	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.487000	0.81328	2.557000	0.86248	0.655000	0.94253	GGC		0.532	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993	
KCTD4	386618	broad.mit.edu	37	13	45768422	45768422	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:45768422C>T	ENST00000379108.1	-	1	430	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000405872.1_Missense_Mutation_p.R94Q			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	94	BTB.				protein homooligomerization (GO:0051260)			p.R94Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTCTCCATTTCGTAGGAAGTT	0.433																																					p.R94Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	13						.						118.0	116.0	117.0					13																	45768422		2203	4300	6503	44666422	SO:0001583	missense	386618	exon2			BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 4"""				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.281G>A	13.37:g.45768422C>T	ENSP00000368402:p.Arg94Gln		44666422	NM_198404	Q5W0P9	Missense_Mutation	SNP	ENST00000379108.1	37	CCDS9396.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489172	0.84962	.	.	ENSG00000180332	ENST00000379108;ENST00000405872	T;T	0.54071	0.59;0.59	5.96	5.96	0.96718	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79619	-0.1728	10	0.87932	D	0	.	19.3895	0.94574	0.0:1.0:0.0:0.0	.	94	Q8WVF5	KCTD4_HUMAN	Q	94	ENSP00000368402:R94Q;ENSP00000385144:R94Q	ENSP00000368402:R94Q	R	-	2	0	KCTD4	44666422	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.798000	0.85924	2.833000	0.97629	0.591000	0.81541	CGA		0.433	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044757.1		
SPERT	220082	broad.mit.edu	37	13	46287373	46287373	+	Silent	SNP	C	C	T	rs80072371	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:46287373C>T	ENST00000310521.1	+	3	293	c.213C>T	c.(211-213)tgC>tgT	p.C71C	SPERT_ENST00000378966.3_Silent_p.C35C	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	71						cytoplasmic membrane-bounded vesicle (GO:0016023)		p.C71C(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCCTCGCTGCGCGCAGCAGG	0.647																																					p.C71C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C213T	13						.						29.0	30.0	30.0					13																	46287373		2202	4299	6501	45185374	SO:0001819	synonymous_variant	220082	exon3			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.213C>T	13.37:g.46287373C>T			45185374	NM_152719	A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	CCDS9399.1																																																																																				0.647	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719	
ZC3H13	23091	broad.mit.edu	37	13	46541939	46541939	+	Nonsense_Mutation	SNP	G	G	A	rs149951585		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:46541939G>A	ENST00000242848.4	-	15	4369	c.4021C>T	c.(4021-4023)Cga>Tga	p.R1341*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R1341*|ZC3H13_ENST00000378921.2_Nonsense_Mutation_p.R297*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1341							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1341*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tctcgttctcgcaatctatct	0.493																																					p.R1341X	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4021T	13						.						297.0	202.0	234.0					13																	46541939		2203	4299	6502	45439940	SO:0001587	stop_gained	23091	exon15			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4021C>T	13.37:g.46541939G>A	ENSP00000242848:p.Arg1341*		45439940	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	45	11.498809	0.99568	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	.	.	.	5.28	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	12.7696	0.57412	0.0:0.0:0.5885:0.4115	.	.	.	.	X	1341;297;1341	.	ENSP00000242848:R1341X	R	-	1	2	ZC3H13	45439940	0.995000	0.38212	0.955000	0.39395	0.624000	0.37722	1.035000	0.30216	1.206000	0.43276	0.591000	0.81541	CGA		0.493	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
LCP1	3936	broad.mit.edu	37	13	46728971	46728971	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:46728971T>C	ENST00000398576.2	-	9	930	c.542A>G	c.(541-543)aAc>aGc	p.N181S	LCP1_ENST00000323076.2_Missense_Mutation_p.N181S			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	181	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.N181S(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CTTCTTTTTGTTGATTGTTCT	0.373			T	BCL6	NHL																																p.N181S			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A542G	13						.						377.0	334.0	349.0					13																	46728971		2203	4300	6503	45626972	SO:0001583	missense	3936	exon6			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.542A>G	13.37:g.46728971T>C	ENSP00000381581:p.Asn181Ser		45626972	NM_002298	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.902768	0.92035	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.96136	-3.92;-3.92;-3.92	6.06	6.06	0.98353	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97439	0.9162	M	0.76170	2.325	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	D	0.97971	1.0343	10	0.72032	D	0.01	-30.4536	15.8056	0.78506	0.0:0.0:0.0:1.0	.	181	P13796	PLSL_HUMAN	S	181	ENSP00000315757:N181S;ENSP00000381581:N181S;ENSP00000408052:N181S	ENSP00000315757:N181S	N	-	2	0	LCP1	45626972	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.698000	0.84413	2.323000	0.78572	0.528000	0.53228	AAC		0.373	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298	
LCP1	3936	broad.mit.edu	37	13	46733736	46733736	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:46733736A>G	ENST00000398576.2	-	5	450	c.62T>C	c.(61-63)gTt>gCt	p.V21A	LCP1_ENST00000323076.2_Missense_Mutation_p.V21A|LCP1_ENST00000460190.1_5'UTR			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	21	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CTACTCACCAACTTTGGCAAA	0.423			T	BCL6	NHL																																p.V21A			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	.	.	0			c.T62C	13						.						163.0	137.0	146.0					13																	46733736		2203	4300	6503	45631737	SO:0001583	missense	3936	exon2			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.62T>C	13.37:g.46733736A>G	ENSP00000381581:p.Val21Ala		45631737	NM_002298	B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.502042	0.64298	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500;ENST00000442275	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.13	5.13	0.70059	EF-hand-like domain (1);	0.228565	0.45361	D	0.000380	T	0.73705	0.3621	M	0.71581	2.175	0.80722	D	1	B	0.23540	0.087	B	0.36766	0.232	T	0.72673	-0.4222	10	0.45353	T	0.12	-25.3648	12.9753	0.58534	1.0:0.0:0.0:0.0	.	21	P13796	PLSL_HUMAN	A	21	ENSP00000315757:V21A;ENSP00000381581:V21A;ENSP00000408052:V21A;ENSP00000402157:V21A	ENSP00000315757:V21A	V	-	2	0	LCP1	45631737	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.880000	0.87243	2.048000	0.60808	0.533000	0.62120	GTT		0.423	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298	
KIAA0226L	80183	broad.mit.edu	37	13	46919624	46919624	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:46919624C>A	ENST00000429979.1	-	13	2347	c.1743G>T	c.(1741-1743)aaG>aaT	p.K581N	KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.K424N|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.K446N|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.K514N|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.K581N|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.K424N|KIAA0226L_ENST00000378781.3_3'UTR	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	581								p.K581N(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCAGAATGTCCTTGAGTAAGG	0.572																																					p.K581N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1743T	13						.						46.0	49.0	48.0					13																	46919624		2062	4197	6259	45817625	SO:0001583	missense	80183	exon13			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1743G>T	13.37:g.46919624C>A	ENSP00000396935:p.Lys581Asn		45817625	NM_025113	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988075	0.53934	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.47177	0.85;0.85;0.85;0.86	5.15	2.39	0.29439	.	.	.	.	.	T	0.46833	0.1413	M	0.65320	2	0.80722	D	1	B;B;B;B;B	0.32862	0.11;0.11;0.34;0.387;0.181	B;B;B;B;B	0.39771	0.215;0.215;0.279;0.309;0.183	T	0.45614	-0.9249	9	0.44086	T	0.13	-11.2518	8.5807	0.33626	0.0:0.7022:0.0:0.2978	.	424;424;581;446;514	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	N	581;514;581;424;424;446	ENSP00000396935:K581N;ENSP00000368061:K514N;ENSP00000374558:K581N;ENSP00000437501:K446N	ENSP00000315633:K424N	K	-	3	2	KIAA0226L	45817625	0.992000	0.36948	0.983000	0.44433	0.410000	0.31052	0.654000	0.24918	1.119000	0.41883	0.655000	0.94253	AAG		0.572	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113	
HTR2A	3356	broad.mit.edu	37	13	47409549	47409549	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:47409549G>T	ENST00000378688.4	-	3	970	c.839C>A	c.(838-840)tCt>tAt	p.S280Y	HTR2A_ENST00000543956.1_Missense_Mutation_p.S196Y|HTR2A_ENST00000542664.1_Missense_Mutation_p.S280Y			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	280					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.S280Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GAAGCTGAAAGAAGCTAATTT	0.473																																					p.S196Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C587A	13						.						78.0	74.0	75.0					13																	47409549		2203	4300	6503	46307550	SO:0001583	missense	3356	exon3			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.839C>A	13.37:g.47409549G>T	ENSP00000367959:p.Ser280Tyr		46307550	NM_001165947	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922488	0.73213	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.64085	0.25;-0.08;0.25	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.057852	0.64402	D	0.000001	T	0.71392	0.3334	M	0.78456	2.415	0.46874	D	0.999236	P;P	0.48407	0.889;0.91	P;P	0.50860	0.521;0.652	T	0.74785	-0.3547	10	0.72032	D	0.01	.	12.659	0.56803	0.0751:0.0:0.9249:0.0	.	196;280	F5GWE8;P28223	.;5HT2A_HUMAN	Y	280;196;280	ENSP00000367959:S280Y;ENSP00000441861:S196Y;ENSP00000437737:S280Y	ENSP00000367959:S280Y	S	-	2	0	HTR2A	46307550	1.000000	0.71417	0.967000	0.41034	0.969000	0.65631	6.552000	0.73914	2.894000	0.99253	0.591000	0.81541	TCT		0.473	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
LPAR6	10161	broad.mit.edu	37	13	48986286	48986286	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:48986286A>G	ENST00000378434.4	-	7	1898	c.274T>C	c.(274-276)Tct>Cct	p.S92P	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.S92P	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.0?(15)|p.?(4)|p.S92P(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AGCATCACAGAAATCTTACAA	0.358																																					p.S92P												.	.	20	Whole gene deletion(15)|Unknown(4)|Substitution - Missense(1)	bone(10)|breast(4)|adrenal_gland(1)|large_intestine(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.T274C	13						.						50.0	45.0	47.0					13																	48986286		2203	4300	6503	47884287	SO:0001583	missense	10161	exon7			AF000546	CCDS9410.1	13q14	2012-08-08	2009-06-23	2009-06-23	ENSG00000139679	ENSG00000139679		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	15520	protein-coding gene	gene with protein product		609239	"""purinergic receptor P2Y, G-protein coupled, 5"""	P2RY5		11004484, 9755289, 19386608	Standard	NM_005767		Approved	P2Y5	uc010acu.3	P43657	OTTHUMG00000016895	ENST00000378434.4:c.274T>C	13.37:g.48986286A>G	ENSP00000367691:p.Ser92Pro		47884287	NM_005767	A4FTW9|B3KVF2|F2YGU4|O15133|Q3KPF5|Q53FA0|Q5VW44|Q7Z3S0|Q7Z3S6	Missense_Mutation	SNP	ENST00000378434.4	37	CCDS9410.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567078	0.65651	.	.	ENSG00000139679	ENST00000378434;ENST00000345941	T;T	0.38077	1.16;1.16	6.17	6.17	0.99709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.80616	2.505	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	T	0.64841	-0.6312	10	0.46703	T	0.11	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	92	P43657	LPAR6_HUMAN	P	92	ENSP00000367691:S92P;ENSP00000344353:S92P	ENSP00000344353:S92P	S	-	1	0	LPAR6	47884287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TCT		0.358	LPAR6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276280.2	NM_005767	
FNDC3A	22862	broad.mit.edu	37	13	49777346	49777346	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:49777346T>G	ENST00000492622.2	+	25	3513	c.3208T>G	c.(3208-3210)Tta>Gta	p.L1070V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.L1014V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.L1070V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1070	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATGGGAGTGTTTACAGCCAAT	0.323																																					p.L1070V												.	.	0			c.T3208G	13						.						120.0	116.0	117.0					13																	49777346		2202	4296	6498	48675347	SO:0001583	missense	22862	exon25			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.3208T>G	13.37:g.49777346T>G	ENSP00000417257:p.Leu1070Val		48675347	NM_001079673	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	T	9.622	1.134224	0.21123	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.34859	1.34;1.34;1.35	5.78	3.36	0.38483	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000095	T	0.22704	0.0548	L	0.28400	0.85	0.48696	D	0.999694	P;B	0.36110	0.537;0.23	B;B	0.32928	0.155;0.05	T	0.03034	-1.1080	10	0.27082	T	0.32	-10.2408	9.309	0.37891	0.0:0.2114:0.0:0.7886	.	1014;1070	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	V	1070;1006;1070;1014	ENSP00000417257:L1070V;ENSP00000441831:L1070V;ENSP00000381362:L1014V	ENSP00000338579:L1006V	L	+	1	2	FNDC3A	48675347	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.505000	0.45424	0.462000	0.27095	0.533000	0.62120	TTA		0.323	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923	
PHF11	51131	broad.mit.edu	37	13	50080833	50080833	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:50080833G>A	ENST00000378319.3	+	2	198	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	PHF11_ENST00000357596.3_Missense_Mutation_p.E14K|PHF11_ENST00000488958.1_Missense_Mutation_p.E14K	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	53					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E53K(1)		large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CAAAGATGTCGAATATAATGT	0.368																																					p.E53K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157A	13						.						116.0	101.0	106.0					13																	50080833		2203	4300	6503	48978834	SO:0001583	missense	51131	exon2			AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.157G>A	13.37:g.50080833G>A	ENSP00000367570:p.Glu53Lys		48978834	NM_001040443	Q5W0A4|Q5W0A6|Q9Y5A2	Missense_Mutation	SNP	ENST00000378319.3	37	CCDS31975.1	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085776	0.20390	.	.	ENSG00000136147	ENST00000378319;ENST00000357596;ENST00000485919;ENST00000442195;ENST00000488958	T;T;T;T;T	0.80480	-0.98;-0.93;-1.38;-0.89;-0.93	4.78	4.78	0.61160	.	0.733397	0.12118	N	0.497942	T	0.74997	0.3790	L	0.54323	1.7	0.25652	N	0.986084	B;P	0.34662	0.152;0.462	B;B	0.20955	0.032;0.03	T	0.68352	-0.5431	10	0.44086	T	0.13	-1.8253	15.202	0.73147	0.0:0.0:1.0:0.0	.	53;53	B4DTX8;Q9UIL8	.;PHF11_HUMAN	K	53;14;14;14;14	ENSP00000367570:E53K;ENSP00000350209:E14K;ENSP00000420129:E14K;ENSP00000405227:E14K;ENSP00000417539:E14K	ENSP00000350209:E14K	E	+	1	0	PHF11	48978834	0.822000	0.29219	0.102000	0.21198	0.003000	0.03518	3.581000	0.53914	2.669000	0.90835	0.650000	0.86243	GAA		0.368	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119	
KCNRG	283518	broad.mit.edu	37	13	50594589	50594589	+	Nonstop_Mutation	SNP	G	G	T	rs144804371	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:50594589G>T	ENST00000312942.1	+	2	1058	c.818G>T	c.(817-819)tGa>tTa	p.*273L	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	0					protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)	p.*273L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		ATAAAGAAATGAAGTTGTCTA	0.358																																					p.X273L												.	.	1	Nonstop extension(1)	large_intestine(1)	c.G818T	13						.						61.0	57.0	58.0					13																	50594589		2203	4300	6503	49492590	SO:0001578	stop_lost	283518	exon2				CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.818G>T	13.37:g.50594589G>T	ENSP00000324191:p.*273Leuext*51		49492590	NM_173605	A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Nonstop_Mutation	SNP	ENST00000312942.1	37	CCDS9424.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190919	0.58017	.	.	ENSG00000198553	ENST00000312942	.	.	.	4.79	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6913	0.23174	0.2622:0.0:0.7378:0.0	.	.	.	.	L	273	.	.	X	+	2	2	KCNRG	49492590	0.995000	0.38212	0.959000	0.39883	0.944000	0.59088	1.130000	0.31393	0.996000	0.38943	0.557000	0.71058	TGA		0.358	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276308.1		
FAM124A	220108	broad.mit.edu	37	13	51826163	51826163	+	Missense_Mutation	SNP	C	C	A	rs543244580		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:51826163C>A	ENST00000322475.8	+	3	795	c.660C>A	c.(658-660)ttC>ttA	p.F220L	FAM124A_ENST00000280057.6_Missense_Mutation_p.F256L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	220								p.F256L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		ACATCCAGTTCTCCCTGAAAA	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17643	0.0		0.0	False		,,,				2504	0.0				p.F256L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C768A	13						.						57.0	58.0	57.0					13																	51826163		2203	4300	6503	50724164	SO:0001583	missense	220108	exon4			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.660C>A	13.37:g.51826163C>A	ENSP00000324625:p.Phe220Leu		50724164	NM_145019	A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073368	0.36566	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.34072	1.38;1.38	5.79	4.95	0.65309	.	0.053931	0.85682	D	0.000000	T	0.36880	0.0983	N	0.25031	0.7	0.40531	D	0.980934	D;B;D	0.71674	0.998;0.323;0.99	D;B;D	0.80764	0.994;0.073;0.979	T	0.35400	-0.9790	10	0.07482	T	0.82	-37.4226	7.6308	0.28238	0.0:0.7512:0.0:0.2488	.	220;256;220	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	L	220;256	ENSP00000324625:F220L;ENSP00000280057:F256L	ENSP00000280057:F256L	F	+	3	2	FAM124A	50724164	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.310000	0.33551	1.454000	0.47793	0.655000	0.94253	TTC		0.577	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019	
INTS6	26512	broad.mit.edu	37	13	51950264	51950264	+	Missense_Mutation	SNP	C	C	T	rs150673436		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:51950264C>T	ENST00000311234.4	-	13	2121	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.R372Q|INTS6_ENST00000490542.1_Missense_Mutation_p.R234Q|INTS6_ENST00000425000.1_Missense_Mutation_p.R118Q|INTS6_ENST00000398119.2_Missense_Mutation_p.R537Q	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	550					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.R550Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CAAAAGATTTCGTCTTGGTAT	0.338																																					p.R550Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1649A	13						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	85.0	82.0	83.0		1610,1649	5.5	1.0	13	dbSNP_134	83	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	INTS6	NM_001039937.1,NM_012141.2	43,43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	537/875,550/888	51950264	1,13003	2203	4299	6502	50848265	SO:0001583	missense	26512	exon13			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1649G>A	13.37:g.51950264C>T	ENSP00000310260:p.Arg550Gln		50848265	NM_012141	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265725	0.80358	0.0	1.16E-4	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.48	5.48	0.80851	.	0.195724	0.50627	D	0.000102	T	0.41050	0.1142	M	0.66939	2.045	0.80722	D	1	P	0.43169	0.8	B	0.43701	0.428	T	0.16719	-1.0393	10	0.23891	T	0.37	-0.8167	14.0079	0.64475	0.0:0.8488:0.1512:0.0	.	550	Q9UL03	INT6_HUMAN	Q	550;537;372;118;234	ENSP00000310260:R550Q;ENSP00000381187:R537Q;ENSP00000419871:R372Q;ENSP00000406915:R118Q;ENSP00000419984:R234Q	ENSP00000310260:R550Q	R	-	2	0	INTS6	50848265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.851000	0.62896	2.579000	0.87056	0.650000	0.86243	CGA		0.338	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
INTS6	26512	broad.mit.edu	37	13	51961532	51961532	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:51961532G>A	ENST00000311234.4	-	7	1356	c.884C>T	c.(883-885)tCg>tTg	p.S295L	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.S117L|INTS6_ENST00000490542.1_5'Flank|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.S282L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	295					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)	p.S295L(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TAGTGTTGGCGAATTTTGATC	0.383																																					p.S295L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C884T	13						.						95.0	88.0	90.0					13																	51961532		2203	4300	6503	50859533	SO:0001583	missense	26512	exon7			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.884C>T	13.37:g.51961532G>A	ENSP00000310260:p.Ser295Leu		50859533	NM_012141	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353297	0.41700	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	T;T;T	0.55930	0.49;0.49;0.49	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.20401	0.57	0.80722	D	1	B	0.17465	0.022	B	0.12837	0.008	T	0.20538	-1.0272	10	0.10636	T	0.68	-13.6928	17.6536	0.88171	0.0:0.0:1.0:0.0	.	295	Q9UL03	INT6_HUMAN	L	295;282;117	ENSP00000310260:S295L;ENSP00000381187:S282L;ENSP00000419871:S117L	ENSP00000310260:S295L	S	-	2	0	INTS6	50859533	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.929000	0.87595	2.463000	0.83235	0.561000	0.74099	TCG		0.383	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141	
NEK5	341676	broad.mit.edu	37	13	52639688	52639688	+	Missense_Mutation	SNP	G	G	A	rs138340585		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:52639688G>A	ENST00000355568.4	-	22	2121	c.1982C>T	c.(1981-1983)gCg>gTg	p.A661V		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	661					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.A661V(1)|p.A693V(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGTCTGAGGCGCTCCTCCATC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19476	0.0		0.0	False		,,,				2504	0.001				p.A661V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1982T	13						.						83.0	72.0	76.0					13																	52639688		2203	4300	6503	51537689	SO:0001583	missense	341676	exon22			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1982C>T	13.37:g.52639688G>A	ENSP00000347767:p.Ala661Val		51537689	NM_199289	Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796505	0.50208	.	.	ENSG00000197168	ENST00000355568	T	0.74315	-0.83	5.07	3.36	0.38483	.	0.301489	0.28146	N	0.016439	T	0.63616	0.2526	L	0.55481	1.735	0.09310	N	1	B	0.31503	0.326	B	0.20955	0.032	T	0.56890	-0.7904	10	0.51188	T	0.08	.	7.6887	0.28554	0.1882:0.0:0.8118:0.0	.	661	Q6P3R8	NEK5_HUMAN	V	661	ENSP00000347767:A661V	ENSP00000347767:A661V	A	-	2	0	NEK5	51537689	0.002000	0.14202	0.002000	0.10522	0.034000	0.12701	0.607000	0.24209	0.743000	0.32719	-0.214000	0.12660	GCG		0.552	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	
NEK5	341676	broad.mit.edu	37	13	52639735	52639735	+	Silent	SNP	C	C	T	rs141292038	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:52639735C>T	ENST00000355568.4	-	22	2074	c.1935G>A	c.(1933-1935)acG>acA	p.T645T		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	645					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.T677T(1)|p.T645T(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTACAGTCTGCGTGGAAAACC	0.507													C|||	13	0.00259585	0.0083	0.0029	5008	,	,		20657	0.0		0.0	False		,,,				2504	0.0				p.T645T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1935A	13						.	C		32,4374	36.8+/-68.6	0,32,2171	43.0	41.0	42.0		1935	-5.5	0.0	13	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NEK5	NM_199289.1		0,33,6470	TT,TC,CC		0.0116,0.7263,0.2537		645/709	52639735	33,12973	2203	4300	6503	51537736	SO:0001819	synonymous_variant	341676	exon22			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1935G>A	13.37:g.52639735C>T			51537736	NM_199289	Q5TAP5	Silent	SNP	ENST00000355568.4	37	CCDS31979.1																																																																																				0.507	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	
NEK5	341676	broad.mit.edu	37	13	52661488	52661488	+	Missense_Mutation	SNP	C	C	T	rs267603847		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:52661488C>T	ENST00000355568.4	-	15	1517	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	460					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E517K(2)|p.E460K(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCCTTCATTTCGTTTTTCCTA	0.393																																					p.E460K												.	.	4	Substitution - Missense(4)	urinary_tract(2)|large_intestine(2)	c.G1378A	13						.						151.0	144.0	146.0					13																	52661488		2203	4300	6503	51559489	SO:0001583	missense	341676	exon15			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1378G>A	13.37:g.52661488C>T	ENSP00000347767:p.Glu460Lys		51559489	NM_199289	Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406907	0.11754	.	.	ENSG00000197168	ENST00000355568	T	0.71222	-0.55	5.55	-5.29	0.02747	.	0.855682	0.10311	N	0.689946	T	0.51890	0.1701	L	0.39633	1.23	0.09310	N	1	B	0.24768	0.111	B	0.14578	0.011	T	0.31223	-0.9951	10	0.18276	T	0.48	.	8.2198	0.31534	0.115:0.251:0.0:0.6341	.	460	Q6P3R8	NEK5_HUMAN	K	460	ENSP00000347767:E460K	ENSP00000347767:E460K	E	-	1	0	NEK5	51559489	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.442000	0.06871	-1.580000	0.01644	-0.150000	0.13652	GAA		0.393	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	
NEK3	4752	broad.mit.edu	37	13	52715169	52715169	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:52715169T>C	ENST00000339406.3	-	11	1289	c.914A>G	c.(913-915)gAa>gGa	p.E305G	NEK3_ENST00000400357.2_Intron|NEK3_ENST00000452082.2_Intron|NEK3_ENST00000378101.2_Missense_Mutation_p.E305G	NM_001146099.1|NM_002498.2	NP_001139571.1|NP_002489.1	P51956	NEK3_HUMAN	NIMA-related kinase 3	305			E -> D (in dbSNP:rs55969405). {ECO:0000269|PubMed:17344846}.		mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E305G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTGCTTGCTTCATTTCCCAA	0.463																																					p.E305G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A914G	13						.						71.0	67.0	68.0					13																	52715169		1833	4080	5913	51613170	SO:0001583	missense	4752	exon11			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000339406.3:c.914A>G	13.37:g.52715169T>C	ENSP00000339429:p.Glu305Gly		51613170	NM_152720	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	ENST00000339406.3	37		.	.	.	.	.	.	.	.	.	.	T	8.911	0.958603	0.18507	.	.	ENSG00000136098	ENST00000339406;ENST00000378101	T;T	0.70869	-0.52;-0.52	5.1	3.92	0.45320	.	0.793468	0.11669	N	0.541048	T	0.55162	0.1903	.	.	.	0.22639	N	0.998903	B	0.02656	0.0	B	0.01281	0.0	T	0.41324	-0.9515	9	0.29301	T	0.29	.	7.373	0.26813	0.0:0.1005:0.0:0.8995	.	305	P51956	NEK3_HUMAN	G	305	ENSP00000339429:E305G;ENSP00000367341:E305G	ENSP00000339429:E305G	E	-	2	0	NEK3	51613170	0.994000	0.37717	0.944000	0.38274	0.312000	0.27988	1.897000	0.39799	0.801000	0.34066	0.533000	0.62120	GAA		0.463	NEK3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
CKAP2	26586	broad.mit.edu	37	13	53035215	53035215	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:53035215G>A	ENST00000378037.5	+	4	347	c.257G>A	c.(256-258)aGa>aAa	p.R86K	CKAP2_ENST00000378034.3_Missense_Mutation_p.R85K|CKAP2_ENST00000258607.5_Missense_Mutation_p.R85K|CKAP2_ENST00000490903.1_Missense_Mutation_p.R37K	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AACATGAAGAGACCTGCAGAG	0.348																																					p.R86K												.	.	0			c.G257A	13						.						70.0	77.0	74.0					13																	53035215		2203	4300	6503	51933216	SO:0001583	missense	26586	exon4			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.257G>A	13.37:g.53035215G>A	ENSP00000367276:p.Arg86Lys		51933216	NM_001098525		Missense_Mutation	SNP	ENST00000378037.5	37	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	7.558	0.664113	0.14710	.	.	ENSG00000136108	ENST00000398044;ENST00000468284;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903;ENST00000480747	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.88	1.12	0.20585	.	0.549745	0.18777	N	0.131427	T	0.28200	0.0696	M	0.75447	2.3	0.09310	N	1	P;P;P;P	0.50272	0.933;0.933;0.739;0.873	B;B;B;B	0.41510	0.359;0.359;0.359;0.359	T	0.20207	-1.0282	10	0.15066	T	0.55	-1.0054	0.6581	0.00838	0.2817:0.1224:0.3442:0.2516	.	37;86;85;86	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	K	86;3;85;85;86;37;38	ENSP00000418431:R3K;ENSP00000258607:R85K;ENSP00000367273:R85K;ENSP00000367276:R86K;ENSP00000417830:R37K;ENSP00000418224:R38K	ENSP00000258607:R85K	R	+	2	0	CKAP2	51933216	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.193000	0.17116	-0.104000	0.12154	-0.140000	0.14226	AGA		0.348	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2		
CKAP2	26586	broad.mit.edu	37	13	53047983	53047983	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:53047983T>G	ENST00000378037.5	+	8	1659	c.1569T>G	c.(1567-1569)tcT>tcG	p.S523S	CKAP2_ENST00000258607.5_Silent_p.S522S|CKAP2_ENST00000490903.1_Silent_p.S474S	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.S522S(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TGGAGAAGTCTTGTGCAAGCA	0.318																																					p.S523S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1569G	13						.						81.0	89.0	87.0					13																	53047983		2203	4300	6503	51945984	SO:0001819	synonymous_variant	26586	exon8			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1569T>G	13.37:g.53047983T>G			51945984	NM_001098525		Silent	SNP	ENST00000378037.5	37	CCDS41893.1																																																																																				0.318	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2		
LECT1	11061	broad.mit.edu	37	13	53282706	53282706	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:53282706C>T	ENST00000377962.3	-	6	832	c.754G>A	c.(754-756)Gac>Aac	p.D252N	LECT1_ENST00000448904.2_Missense_Mutation_p.D252N			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	252					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)		p.D252N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GCTTGTGAGTCCTCTTGAACA	0.458																																					p.D252N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G754A	13						.						220.0	186.0	197.0					13																	53282706		2203	4300	6503	52180707	SO:0001583	missense	11061	exon6			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.754G>A	13.37:g.53282706C>T	ENSP00000367198:p.Asp252Asn		52180707	NM_001011705	Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370670	0.24771	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.31510	1.49;1.5	4.97	4.97	0.65823	.	0.354200	0.33290	N	0.005075	T	0.24624	0.0597	L	0.54323	1.7	0.30590	N	0.761653	B;B	0.14438	0.01;0.006	B;B	0.11329	0.006;0.003	T	0.12941	-1.0528	10	0.17369	T	0.5	.	6.7866	0.23677	0.0:0.7778:0.0:0.2222	.	252;252	O75829-2;O75829	.;LECT1_HUMAN	N	252	ENSP00000388576:D252N;ENSP00000367198:D252N	ENSP00000367198:D252N	D	-	1	0	LECT1	52180707	0.975000	0.34042	0.992000	0.48379	0.451000	0.32288	1.376000	0.34306	2.482000	0.83794	0.555000	0.69702	GAC		0.458	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3		
OLFM4	10562	broad.mit.edu	37	13	53624719	53624719	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:53624719G>A	ENST00000219022.2	+	5	1424	c.1346G>A	c.(1345-1347)aGa>aAa	p.R449K		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	449	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.R449K(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATGAACACCAGAACAGAAGAG	0.413																																					p.R449K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1346A	13						.						131.0	122.0	125.0					13																	53624719		2203	4300	6503	52522720	SO:0001583	missense	10562	exon5			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1346G>A	13.37:g.53624719G>A	ENSP00000219022:p.Arg449Lys		52522720	NM_006418	O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	4.013	-0.000223	0.07819	.	.	ENSG00000102837	ENST00000219022	D	0.88277	-2.36	5.83	-1.1	0.09872	Olfactomedin-like (3);	0.525015	0.23541	N	0.047069	T	0.77075	0.4077	N	0.25380	0.74	0.09310	N	1	B	0.14012	0.009	B	0.17979	0.02	T	0.58126	-0.7691	10	0.05525	T	0.97	.	12.353	0.55159	0.4715:0.0:0.5285:0.0	.	449	Q6UX06	OLFM4_HUMAN	K	449	ENSP00000219022:R449K	ENSP00000219022:R449K	R	+	2	0	OLFM4	52522720	0.384000	0.25164	0.065000	0.19835	0.315000	0.28087	0.194000	0.17135	-0.634000	0.05538	-0.970000	0.02610	AGA		0.413	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418	
PCDH20	64881	broad.mit.edu	37	13	61986737	61986737	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:61986737G>A	ENST00000409186.1	-	5	3600	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	PCDH20_ENST00000409204.4_Silent_p.L499L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	499	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACTGCTGTAGCTCATAGTCC	0.398																																					p.L499L												.	.	0			c.C1495T	13						.						124.0	125.0	125.0					13																	61986737		2203	4300	6503	60884738	SO:0001819	synonymous_variant	64881	exon2			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1495C>T	13.37:g.61986737G>A			60884738	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	CCDS9442.2																																																																																				0.398	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
PCDH9	5101	broad.mit.edu	37	13	67477651	67477651	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:67477651T>G	ENST00000377865.2	-	2	3257	c.3123A>C	c.(3121-3123)gaA>gaC	p.E1041D	PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000456367.1_Intron|PCDH9-AS2_ENST00000419371.2_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.E1041D			Q9HC56	PCDH9_HUMAN	protocadherin 9	1041					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1041D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AATGGCTTTCTTCATTCTCCT	0.358																																					p.E1041D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3123C	13						.						117.0	112.0	113.0					13																	67477651		2203	4299	6502	66375652	SO:0001583	missense	5101	exon3			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3123A>C	13.37:g.67477651T>G	ENSP00000367096:p.Glu1041Asp		66375652	NM_203487	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249259	0.22880	.	.	ENSG00000184226	ENST00000544246;ENST00000377865	T;T	0.52057	0.68;0.68	4.97	4.97	0.65823	.	0.000000	0.45867	D	0.000326	T	0.28665	0.0710	N	0.08118	0	0.80722	D	1	B;B	0.30068	0.0;0.267	B;B	0.36092	0.0;0.217	T	0.14531	-1.0469	10	0.15952	T	0.53	.	10.9764	0.47469	0.0:0.0:0.0:1.0	.	1041;1041	B7ZM79;Q9HC56	.;PCDH9_HUMAN	D	1041	ENSP00000442186:E1041D;ENSP00000367096:E1041D	ENSP00000367096:E1041D	E	-	3	2	PCDH9	66375652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.201000	0.58439	2.087000	0.62958	0.533000	0.62120	GAA		0.358	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
UCHL3	7347	broad.mit.edu	37	13	76179901	76179901	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:76179901G>A	ENST00000377595.3	+	9	676	c.646G>A	c.(646-648)Gac>Aac	p.D216N	RP11-173B14.5_ENST00000568735.1_RNA|RP11-29G8.3_ENST00000563635.1_RNA|RP11-173B14.5_ENST00000568302.1_RNA|UCHL3_ENST00000606347.1_3'UTR	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	216					protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D216N(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TATGGAGCGCGACCCTGATGA	0.333																																					p.D216N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G646A	13						.						157.0	152.0	154.0					13																	76179901		2203	4300	6503	75077902	SO:0001583	missense	7347	exon9			M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.646G>A	13.37:g.76179901G>A	ENSP00000366819:p.Asp216Asn		75077902	NM_006002	B2R970|Q5TBK8|Q6IBE9	Missense_Mutation	SNP	ENST00000377595.3	37	CCDS9453.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788524	0.70337	.	.	ENSG00000118939	ENST00000377595;ENST00000377589;ENST00000419068	T;T	0.41400	1.0;1.0	6.02	6.02	0.97574	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.044767	0.85682	D	0.000000	T	0.41073	0.1143	L	0.38531	1.155	0.58432	D	0.999998	P	0.48764	0.915	P	0.45794	0.493	T	0.04495	-1.0947	10	0.19590	T	0.45	-10.9108	19.3122	0.94192	0.0:0.0:1.0:0.0	.	216	P15374	UCHL3_HUMAN	N	216;237;214	ENSP00000366819:D216N;ENSP00000398189:D214N	ENSP00000366813:D237N	D	+	1	0	UCHL3	75077902	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.310000	0.78947	2.865000	0.98341	0.655000	0.94253	GAC		0.333	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045292.2	NM_006002	
LMO7	4008	broad.mit.edu	37	13	76382089	76382089	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:76382089T>G	ENST00000321797.8	+	8	1692	c.971T>G	c.(970-972)tTt>tGt	p.F324C	LMO7_ENST00000377534.3_Missense_Mutation_p.F609C|LMO7_ENST00000465261.2_Missense_Mutation_p.F324C|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000357063.3_Missense_Mutation_p.F609C|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	609					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F609C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAAGCAAAATTTCTCTGTGTA	0.448																																					p.F324C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T971G	13						.						85.0	86.0	86.0					13																	76382089		1568	3582	5150	75280090	SO:0001583	missense	4008	exon7			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.971T>G	13.37:g.76382089T>G	ENSP00000317802:p.Phe324Cys		75280090	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.3|21.3	4.122321|4.122321	0.77436|0.77436	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261|ENST00000447038	T;T;T;T|.	0.53857|.	0.6;0.6;0.6;0.6|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.054170|.	0.85682|.	D|.	0.000000|.	T|T	0.73118|0.73118	0.3546|0.3546	M|M	0.65975|0.65975	2.015|2.015	0.48236|0.48236	D|D	0.999613|0.999613	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.78314|.	0.991;0.991|.	T|T	0.72304|0.72304	-0.4333|-0.4333	10|5	0.87932|.	D|.	0|.	-22.8904|-22.8904	16.215|16.215	0.82206|0.82206	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	609;324|.	Q8WWI1;E9PLH4|.	LMO7_HUMAN;.|.	C|M	609;609;324;324|232	ENSP00000349571:F609C;ENSP00000366757:F609C;ENSP00000317802:F324C;ENSP00000433352:F324C|.	ENSP00000317802:F324C|.	F|I	+|+	2|3	0|3	LMO7|LMO7	75280090|75280090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.655000|7.655000	0.83696|0.83696	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.448	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	
LMO7	4008	broad.mit.edu	37	13	76393554	76393554	+	Missense_Mutation	SNP	G	G	A	rs372334697|rs34219193		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:76393554G>A	ENST00000321797.8	+	11	2112	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	LMO7_ENST00000377534.3_Missense_Mutation_p.R749Q|LMO7_ENST00000465261.2_Missense_Mutation_p.R464Q|LMO7_ENST00000526202.1_Missense_Mutation_p.R314Q|LMO7_ENST00000357063.3_Missense_Mutation_p.R749Q|LMO7_ENST00000341547.4_Missense_Mutation_p.R415Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	749					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R415Q(1)|p.R749Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAAGATCGTCGAAAAAGTTAC	0.408																																					p.R464Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1391A	13						.	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	71.0	70.0		1244,1391	5.4	1.0	13		70	0,8600		0,0,4300	no	missense,missense	LMO7	NM_005358.5,NM_015842.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	415/1350,464/1386	76393554	1,13005	2203	4300	6503	75291555	SO:0001583	missense	4008	exon10			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1391G>A	13.37:g.76393554G>A	ENSP00000317802:p.Arg464Gln		75291555	NM_015842	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37		.	.	.	.	.	.	.	.	.	.	G	35	5.449832	0.96205	2.27E-4	0.0	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261;ENST00000489941;ENST00000525373	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.984;0.998;0.998	T	0.73681	-0.3906	10	0.87932	D	0	-12.8701	18.9009	0.92442	0.0:0.0:1.0:0.0	.	314;415;749;464;697	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	Q	415;749;749;363;464;314;464;130;120	ENSP00000342112:R415Q;ENSP00000349571:R749Q;ENSP00000366757:R749Q;ENSP00000366719:R363Q;ENSP00000317802:R464Q;ENSP00000431129:R314Q;ENSP00000433352:R464Q;ENSP00000431636:R130Q;ENSP00000431896:R120Q	ENSP00000317802:R464Q	R	+	2	0	LMO7	75291555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.382000	0.79729	2.573000	0.86826	0.462000	0.41574	CGA		0.408	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	
FBXL3	26224	broad.mit.edu	37	13	77581800	77581800	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:77581800C>T	ENST00000355619.5	-	5	1091	c.767G>A	c.(766-768)cGc>cAc	p.R256H	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	256					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R256H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TACATCAATGCGCAAATGTTC	0.408																																					p.R256H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G767A	13						.						117.0	110.0	112.0					13																	77581800		2203	4300	6503	76479801	SO:0001583	missense	26224	exon5			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.767G>A	13.37:g.77581800C>T	ENSP00000347834:p.Arg256His		76479801	NM_012158	B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412960	0.83449	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.52526	0.7;0.66	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.65240	-0.6216	10	0.45353	T	0.12	-11.1028	20.6208	0.99490	0.0:1.0:0.0:0.0	.	256	Q9UKT7	FBXL3_HUMAN	H	256;208	ENSP00000347834:R256H;ENSP00000412183:R208H	ENSP00000347834:R256H	R	-	2	0	FBXL3	76479801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.882000	0.98803	0.655000	0.94253	CGC		0.408	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3		
MYCBP2	23077	broad.mit.edu	37	13	77642939	77642939	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:77642939G>A	ENST00000544440.2	-	70	11835	c.11818C>T	c.(11818-11820)Cgc>Tgc	p.R3940C	MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3940C|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R3978C					MYC binding protein 2, E3 ubiquitin protein ligase									p.R3978C(1)|p.R3940C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTTCCATGCGAATAGCTTGG	0.388																																					p.R3978C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C11932T	13						.						168.0	143.0	152.0					13																	77642939		2203	4300	6503	76540940	SO:0001583	missense	23077	exon70			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11818C>T	13.37:g.77642939G>A	ENSP00000444596:p.Arg3940Cys		76540940	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.292136|4.292136	0.80914|0.80914	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.32272|.	1.46;1.46;1.46|.	5.67|5.67	4.75|4.75	0.60458|0.60458	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63803|0.63803	0.2542|0.2542	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.74023|.	0.982|.	T|T	0.60177|0.60177	-0.7314|-0.7314	10|5	0.87932|.	D|.	0|.	.|.	15.4653|15.4653	0.75394|0.75394	0.0:0.0:0.7718:0.2282|0.0:0.0:0.7718:0.2282	.|.	3940|.	O75592|.	MYCB2_HUMAN|.	C|L	3940;3978;3940|360	ENSP00000349892:R3940C;ENSP00000384288:R3978C;ENSP00000444596:R3940C|.	ENSP00000349892:R3940C|.	R|S	-|-	1|2	0|0	MYCBP2|MYCBP2	76540940|76540940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.150000|6.150000	0.71801|0.71801	2.675000|2.675000	0.91044|0.91044	0.650000|0.650000	0.86243|0.86243	CGC|TCG		0.388	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
MYCBP2	23077	broad.mit.edu	37	13	77862352	77862352	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:77862352C>T	ENST00000544440.2	-	3	441	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E142K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E180K|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase									p.E142K(2)|p.E180K(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTATCTGATTCTCCACTCTGC	0.413																																					p.E180K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G538A	13						.						156.0	164.0	161.0					13																	77862352		2203	4300	6503	76760353	SO:0001583	missense	23077	exon3			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.424G>A	13.37:g.77862352C>T	ENSP00000444596:p.Glu142Lys		76760353	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.	.	.	.	.	.	.	.	.	.	C	22.0	4.235918	0.79800	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.29397	1.57;1.57;1.57	6.08	6.08	0.98989	.	0.060036	0.64402	D	0.000005	T	0.30166	0.0756	L	0.34521	1.04	0.51482	D	0.999925	B	0.19200	0.034	B	0.14023	0.01	T	0.03287	-1.1052	10	0.62326	D	0.03	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	142	O75592	MYCB2_HUMAN	K	142;180;142	ENSP00000349892:E142K;ENSP00000384288:E180K;ENSP00000444596:E142K	ENSP00000349892:E142K	E	-	1	0	MYCBP2	76760353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.894000	0.99253	0.655000	0.94253	GAA		0.413	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
EDNRB	1910	broad.mit.edu	37	13	78492700	78492700	+	Silent	SNP	C	C	T	rs201820859		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:78492700C>T	ENST00000334286.5	-	1	245	c.9G>A	c.(7-9)ccG>ccA	p.P3P	EDNRB_ENST00000446573.1_Silent_p.P3P|EDNRB_ENST00000475537.1_5'UTR|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000377211.4_Silent_p.P93P	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	3					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.P3P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GACTTGGAGGCGGCTGCATGC	0.642											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P3P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9A	13						.						22.0	25.0	24.0					13																	78492700		2203	4300	6503	77390701	SO:0001819	synonymous_variant	1910	exon1			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.9G>A	13.37:g.78492700C>T		1183	77390701	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	CCDS9461.1																																																																																				0.642	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
SLITRK1	114798	broad.mit.edu	37	13	84455409	84455409	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:84455409G>A	ENST00000377084.2	-	1	1119	c.234C>T	c.(232-234)ttC>ttT	p.F78F		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	78					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.F78F(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAAAGTTAGCGAACTCATTAG	0.478																																					p.F78F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C234T	13						.																																			83353410	SO:0001819	synonymous_variant	114798	exon1			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.234C>T	13.37:g.84455409G>A			83353410	NM_052910	Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	CCDS9464.1																																																																																				0.478	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
SLITRK6	84189	broad.mit.edu	37	13	86368620	86368620	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:86368620G>A	ENST00000400286.2	-	2	2622	c.2024C>T	c.(2023-2025)gCc>gTc	p.A675V		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	675					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.A675V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATAGAGTGAGGCAGAGGGTCT	0.453																																					p.A675V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2024T	13						.						225.0	213.0	217.0					13																	86368620		1983	4161	6144	85266621	SO:0001583	missense	84189	exon2			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2024C>T	13.37:g.86368620G>A	ENSP00000383143:p.Ala675Val		85266621	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536180	0.45176	.	.	ENSG00000184564	ENST00000400286	T	0.57907	0.37	5.84	5.84	0.93424	.	0.269330	0.29178	U	0.012911	T	0.50582	0.1624	L	0.40543	1.245	0.41603	D	0.988867	P	0.34562	0.457	B	0.36534	0.227	T	0.53989	-0.8360	10	0.87932	D	0	-6.0383	18.719	0.91686	0.0:0.0:1.0:0.0	.	675	Q9H5Y7	SLIK6_HUMAN	V	675	ENSP00000383143:A675V	ENSP00000383143:A675V	A	-	2	0	SLITRK6	85266621	1.000000	0.71417	0.764000	0.31436	0.789000	0.44602	5.325000	0.65869	2.760000	0.94817	0.655000	0.94253	GCC		0.453	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
SLITRK6	84189	broad.mit.edu	37	13	86369440	86369440	+	Missense_Mutation	SNP	G	G	T	rs369609707		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:86369440G>T	ENST00000400286.2	-	2	1802	c.1204C>A	c.(1204-1206)Ctt>Att	p.L402I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	402					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.L402I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CCTTCTTCAAGAACTTCAATA	0.358																																					p.L402I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1204A	13						.						73.0	68.0	70.0					13																	86369440		1844	4089	5933	85267441	SO:0001583	missense	84189	exon2			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1204C>A	13.37:g.86369440G>T	ENSP00000383143:p.Leu402Ile		85267441	NM_032229	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.137757	0.01742	.	.	ENSG00000184564	ENST00000400286	T	0.56776	0.44	5.76	5.76	0.90799	.	0.087768	0.46442	U	0.000299	T	0.33585	0.0868	N	0.16016	0.355	0.38018	D	0.93476	B	0.21821	0.061	B	0.27887	0.084	T	0.20773	-1.0265	10	0.02654	T	1	-1.9943	14.1867	0.65609	0.0:0.1497:0.8503:0.0	.	402	Q9H5Y7	SLIK6_HUMAN	I	402	ENSP00000383143:L402I	ENSP00000383143:L402I	L	-	1	0	SLITRK6	85267441	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.604000	0.54081	2.724000	0.93272	0.585000	0.79938	CTT		0.358	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
GPC5	2262	broad.mit.edu	37	13	92345783	92345783	+	Missense_Mutation	SNP	G	G	A	rs201373834		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:92345783G>A	ENST00000377067.3	+	3	1040	c.668G>A	c.(667-669)cGc>cAc	p.R223H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	223					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R223H(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CTGCCCAGCCGCACTTTTCTG	0.522																																					p.R223H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G668A	13						.						48.0	44.0	45.0					13																	92345783		2203	4300	6503	91143784	SO:0001583	missense	2262	exon3			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.668G>A	13.37:g.92345783G>A	ENSP00000366267:p.Arg223His		91143784	NM_004466	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228988	0.79688	.	.	ENSG00000179399	ENST00000377067	T	0.61980	0.06	5.23	5.23	0.72850	.	0.054231	0.64402	D	0.000002	D	0.82332	0.5014	M	0.86864	2.845	0.39034	D	0.960006	D	0.89917	1.0	D	0.83275	0.996	D	0.86643	0.1893	10	0.87932	D	0	.	17.776	0.88508	0.0:0.0:1.0:0.0	.	223	P78333	GPC5_HUMAN	H	223	ENSP00000366267:R223H	ENSP00000366267:R223H	R	+	2	0	GPC5	91143784	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.652000	0.83633	2.428000	0.82296	0.467000	0.42956	CGC		0.522	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466	
DCT	1638	broad.mit.edu	37	13	95095699	95095699	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:95095699C>T	ENST00000377028.5	-	7	1785	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	DCT_ENST00000446125.1_Missense_Mutation_p.D491N	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	458					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.D458N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CCTGGCAGATCGATGGCATAG	0.403																																					p.D458N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1372A	13						.						114.0	107.0	109.0					13																	95095699		2203	4300	6503	93893700	SO:0001583	missense	1638	exon7			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1372G>A	13.37:g.95095699C>T	ENSP00000366227:p.Asp458Asn		93893700	NM_001922	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564433	0.45694	.	.	ENSG00000080166	ENST00000377021;ENST00000377028;ENST00000446125	D;D	0.99113	-5.42;-5.44	5.86	3.79	0.43588	.	0.280907	0.38720	N	0.001588	D	0.96790	0.8952	L	0.44542	1.39	0.53005	D	0.999965	B;B	0.13594	0.008;0.007	B;B	0.12837	0.008;0.002	D	0.95577	0.8643	10	0.17832	T	0.49	-19.2699	12.5473	0.56208	0.0:0.806:0.1214:0.0726	.	491;458	Q09GT4;P40126	.;TYRP2_HUMAN	N	65;458;491	ENSP00000366227:D458N;ENSP00000392762:D491N	ENSP00000366220:D65N	D	-	1	0	DCT	93893700	1.000000	0.71417	0.584000	0.28653	0.890000	0.51754	1.540000	0.36115	1.449000	0.47699	0.650000	0.86243	GAT		0.403	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3		
GPR180	160897	broad.mit.edu	37	13	95271455	95271455	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:95271455G>A	ENST00000376958.4	+	4	582	c.557G>A	c.(556-558)tGc>tAc	p.C186Y		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	186					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.C186Y(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GTGATTGCTTGCATTTATGCT	0.408																																					p.C186Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	13						.						201.0	189.0	193.0					13																	95271455		2203	4300	6503	94069456	SO:0001583	missense	160897	exon4			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.557G>A	13.37:g.95271455G>A	ENSP00000366157:p.Cys186Tyr		94069456	NM_180989	A8K1D5	Missense_Mutation	SNP	ENST00000376958.4	37	CCDS9472.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344976	0.82022	.	.	ENSG00000152749	ENST00000376958	T	0.41400	1.0	5.3	5.3	0.74995	Rhodopsin-like GPCR transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.52124	-0.8617	10	0.08837	T	0.75	-9.3185	19.3215	0.94243	0.0:0.0:1.0:0.0	.	186	Q86V85	GP180_HUMAN	Y	186	ENSP00000366157:C186Y	ENSP00000366157:C186Y	C	+	2	0	GPR180	94069456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.992000	0.93519	2.626000	0.88956	0.650000	0.86243	TGC		0.408	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989	
ABCC4	10257	broad.mit.edu	37	13	95861803	95861803	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:95861803C>T	ENST00000376887.4	-	6	784	c.670G>A	c.(670-672)Gca>Aca	p.A224T	ABCC4_ENST00000431522.1_Missense_Mutation_p.A224T|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000536256.1_Missense_Mutation_p.A149T|ABCC4_ENST00000412704.1_Missense_Mutation_p.A224T|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	224	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A224T(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	GCAGTCACTGCAATCGCCTGC	0.478																																					p.A224T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G670A	13						.						97.0	81.0	87.0					13																	95861803		2203	4300	6503	94659804	SO:0001583	missense	10257	exon6			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.670G>A	13.37:g.95861803C>T	ENSP00000366084:p.Ala224Thr		94659804	NM_001105515	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	ENST00000376887.4	37	CCDS9474.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655670	0.29425	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	5.91	3.24	0.37175	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.206223	0.51477	D	0.000094	D	0.83876	0.5349	L	0.42487	1.325	0.09310	N	0.999994	B;B;B;B;B	0.18013	0.018;0.025;0.008;0.025;0.023	B;B;B;B;B	0.27887	0.081;0.084;0.019;0.052;0.035	T	0.74022	-0.3798	10	0.54805	T	0.06	.	8.0058	0.30323	0.0:0.6928:0.1158:0.1914	.	149;224;224;224;224	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	T	224;224;149;224	ENSP00000388657:A224T;ENSP00000366084:A224T;ENSP00000442024:A149T;ENSP00000398562:A224T	ENSP00000366084:A224T	A	-	1	0	ABCC4	94659804	0.025000	0.19082	0.003000	0.11579	0.344000	0.29017	0.914000	0.28624	0.394000	0.25230	0.655000	0.94253	GCA		0.478	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845	
DZIP1	22873	broad.mit.edu	37	13	96251640	96251640	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:96251640C>A	ENST00000376829.2	-	15	2367	c.1516G>T	c.(1516-1518)Gaa>Taa	p.E506*	DZIP1_ENST00000361396.2_Nonsense_Mutation_p.E487*|DZIP1_ENST00000347108.3_Nonsense_Mutation_p.E506*|DZIP1_ENST00000361156.3_Nonsense_Mutation_p.E487*	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	506					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E506*(1)|p.E487*(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTGAAAGTTCTTCTATTGGT	0.378																																					p.E487X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1459T	13						.						200.0	179.0	186.0					13																	96251640		2202	4300	6502	95049641	SO:0001587	stop_gained	22873	exon14			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.1516G>T	13.37:g.96251640C>A	ENSP00000366025:p.Glu506*		95049641	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Nonsense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	44	11.211443	0.99531	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	.	.	.	5.72	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-25.41	14.084	0.64944	0.0:0.849:0.1509:0.0	.	.	.	.	X	506;487;487;506	.	ENSP00000257312:E506X	E	-	1	0	DZIP1	95049641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.703000	0.61824	1.487000	0.48415	0.650000	0.86243	GAA		0.378	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
DZIP1	22873	broad.mit.edu	37	13	96277040	96277040	+	Missense_Mutation	SNP	C	C	A	rs138320927		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:96277040C>A	ENST00000376829.2	-	8	1805	c.954G>T	c.(952-954)aaG>aaT	p.K318N	DZIP1_ENST00000361396.2_Missense_Mutation_p.K318N|DZIP1_ENST00000347108.3_Missense_Mutation_p.K318N|DZIP1_ENST00000361156.3_Missense_Mutation_p.K318N	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	318					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K318N(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGCTGAATTCTTCGAAGTTA	0.353																																					p.K318N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G954T	13						.	C	ASN/LYS,ASN/LYS	0,4386		0,0,2193	92.0	85.0	87.0		954,954	5.4	1.0	13	dbSNP_134	87	1,8599		0,1,4299	no	missense,missense	DZIP1	NM_014934.3,NM_198968.2	94,94	0,1,6492	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	318/849,318/868	96277040	1,12985	2193	4300	6493	95075041	SO:0001583	missense	22873	exon8			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.954G>T	13.37:g.96277040C>A	ENSP00000366025:p.Lys318Asn		95075041	NM_014934	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411008	0.62399	0.0	1.16E-4	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.4	5.4	0.78164	.	0.263468	0.36628	N	0.002495	T	0.65657	0.2712	M	0.71581	2.175	0.32054	N	0.596605	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.922	T	0.72693	-0.4216	10	0.62326	D	0.03	-29.9229	13.3053	0.60349	0.0:0.9174:0.0:0.0826	.	318;318	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	N	318	ENSP00000257312:K318N;ENSP00000355018:K318N;ENSP00000355175:K318N;ENSP00000366025:K318N	ENSP00000257312:K318N	K	-	3	2	DZIP1	95075041	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	1.712000	0.37940	2.692000	0.91855	0.655000	0.94253	AAG		0.353	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
IPO5	3843	broad.mit.edu	37	13	98655155	98655155	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:98655155G>A	ENST00000490680.1	+	13	1426	c.1361G>A	c.(1360-1362)gGc>gAc	p.G454D	IPO5_ENST00000539640.1_Missense_Mutation_p.G329D|IPO5_ENST00000261574.5_Missense_Mutation_p.G472D			O00410	IPO5_HUMAN	importin 5	454					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.G472D(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGACCAAGGCAATCAACGT	0.453																																					p.G472D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1415A	13						.						91.0	79.0	83.0					13																	98655155		2203	4300	6503	97453156	SO:0001583	missense	3843	exon16			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1361G>A	13.37:g.98655155G>A	ENSP00000418393:p.Gly454Asp		97453156	NM_002271	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.470|9.470	1.095443|1.095443	0.20471|0.20471	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.14766	.|2.48;2.48;2.48;2.48	5.72|5.72	4.82|4.82	0.62117|0.62117	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.369520	.|0.32161	.|N	.|0.006493	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.14661|0.14661	0.345|0.345	0.32236|0.32236	N|N	0.573325|0.573325	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.09377	.|0.004;0.0;0.001	T|T	0.16928|0.16928	-1.0386|-1.0386	5|10	.|0.12430	.|T	.|0.62	-35.289|-35.289	10.0307|10.0307	0.42099|0.42099	0.0715:0.2491:0.6794:0.0|0.0715:0.2491:0.6794:0.0	.|.	.|329;454;472	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	T|D	456|472;454;454;329	.|ENSP00000261574:G472D;ENSP00000350219:G454D;ENSP00000418393:G454D;ENSP00000445126:G329D	.|ENSP00000261574:G472D	A|G	+|+	1|2	0|0	IPO5|IPO5	97453156|97453156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.085000|2.085000	0.41634|0.41634	2.688000|2.688000	0.91661|0.91661	0.563000|0.563000	0.77884|0.77884	GCA|GGC		0.453	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
FARP1	10160	broad.mit.edu	37	13	99063076	99063076	+	Splice_Site	SNP	C	C	T	rs149379616		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:99063076C>T	ENST00000319562.6	+	15	1956	c.1691C>T	c.(1690-1692)tCg>tTg	p.S564L	FARP1_ENST00000595437.1_Splice_Site_p.S564L|FARP1_ENST00000376586.2_Splice_Site_p.S564L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	564	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S564L(2)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GTTATCACTTCGGTATGTGCA	0.423																																					p.S564L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1691T	13						.	C	LEU/SER	0,4406		0,0,2203	118.0	103.0	108.0		1691	3.9	1.0	13	dbSNP_134	108	1,8597	1.2+/-3.3	0,1,4298	no	missense-near-splice	FARP1	NM_005766.2	145	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	564/1046	99063076	1,13003	2203	4299	6502	97861077	SO:0001630	splice_region_variant	10160	exon15			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1692+1C>T	13.37:g.99063076C>T			97861077	NM_005766	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.204297|2.204297	0.38905|0.38905	0.0|0.0	1.16E-4|1.16E-4	ENSG00000152767|ENSG00000152767	ENST00000457029|ENST00000376586;ENST00000376584;ENST00000319562	.|T;T	.|0.63744	.|-0.06;-0.06	5.66|5.66	3.94|3.94	0.45596|0.45596	.|Dbl homology (DH) domain (5);	.|0.451388	.|0.23065	.|N	.|0.052336	T|T	0.37571|0.37571	0.1008|0.1008	N|N	0.08118|0.08118	0|0	0.41802|0.41802	D|D	0.989924|0.989924	.|B;B	.|0.27286	.|0.174;0.134	.|B;B	.|0.22753	.|0.016;0.041	T|T	0.17806|0.17806	-1.0357|-1.0357	5|10	.|0.45353	.|T	.|0.12	.|.	7.0903|7.0903	0.25279|0.25279	0.1387:0.7195:0.0:0.1418|0.1387:0.7195:0.0:0.1418	.|.	.|564;564	.|Q9Y4F1;C9JME2	.|FARP1_HUMAN;.	C|L	93|564;269;564	.|ENSP00000365771:S564L;ENSP00000322926:S564L	.|ENSP00000322926:S564L	R|S	+|+	1|2	0|0	FARP1|FARP1	97861077|97861077	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.727000|0.727000	0.41649|0.41649	3.204000|3.204000	0.51082|0.51082	0.753000|0.753000	0.32945|0.32945	0.563000|0.563000	0.77884|0.77884	CGT|TCG		0.423	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	Missense_Mutation
STK24	8428	broad.mit.edu	37	13	99118668	99118668	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:99118668C>T	ENST00000376547.3	-	6	926	c.781G>A	c.(781-783)Gag>Aag	p.E261K	STK24_ENST00000539966.1_Missense_Mutation_p.E230K|STK24_ENST00000397517.2_Missense_Mutation_p.E249K	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E261K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCACAAACTCCTTGAGGGGT	0.483																																					p.E261K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G781A	13						.						79.0	76.0	77.0					13																	99118668		2203	4300	6503	97916669	SO:0001583	missense	8428	exon6			AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.781G>A	13.37:g.99118668C>T	ENSP00000365730:p.Glu261Lys		97916669	NM_003576	O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.447050|5.447050	0.96205|0.96205	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376554;ENST00000376547;ENST00000376541;ENST00000539966;ENST00000376533;ENST00000543110|ENST00000444574	T;T;T;T|.	0.24908|.	1.83;1.83;1.83;1.83|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.56097|.	U|.	0.000027|.	T|T	0.61009|0.61009	0.2313|0.2313	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	P;P;P|.	0.48294|.	0.826;0.832;0.908|.	P;P;P|.	0.54544|.	0.538;0.755;0.755|.	T|T	0.56637|0.56637	-0.7946|-0.7946	10|5	0.87932|.	D|.	0|.	.|.	18.6716|18.6716	0.91513|0.91513	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	230;249;261|.	B4DR80;Q5U0E6;Q9Y6E0|.	.;.;STK24_HUMAN|.	K|E	249;50;261;64;230;237;249|166	ENSP00000380651:E249K;ENSP00000365737:E50K;ENSP00000365730:E261K;ENSP00000442539:E230K|.	ENSP00000365716:E237K|.	E|G	-|-	1|2	0|0	STK24|STK24	97916669|97916669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.711000|7.711000	0.84669|0.84669	2.389000|2.389000	0.81357|0.81357	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.483	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2	NM_003576	
DOCK9	23348	broad.mit.edu	37	13	99449718	99449718	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:99449718G>A	ENST00000376460.1	-	54	6064	c.5984C>T	c.(5983-5985)gCg>gTg	p.A1995V	DOCK9_ENST00000339416.2_Missense_Mutation_p.A1982V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1996	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAAGCTCGCGCATATGCTAG	0.408																																					p.R1995C												.	.	0			c.C5983T	13						.						119.0	101.0	106.0					13																	99449718		1897	4132	6029	98247719	SO:0001583	missense	23348	exon53			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5984C>T	13.37:g.99449718G>A	ENSP00000365643:p.Ala1995Val		98247719	NM_015296	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886298	0.72410	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453	T;T	0.20738	2.05;2.05	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.961;0.989;1.0;1.0	T	0.67055	-0.5767	10	0.87932	D	0	.	18.7091	0.91649	0.0:0.0:1.0:0.0	.	701;614;1995;1996;651;613	B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4	.;.;.;DOCK9_HUMAN;.;.	V	1995;1996;1988;1973;1995;903;1982;613	ENSP00000365643:A1995V;ENSP00000341086:A1982V	ENSP00000341086:A1982V	A	-	2	0	DOCK9	98247719	1.000000	0.71417	0.995000	0.50966	0.102000	0.19082	9.476000	0.97823	2.404000	0.81709	0.655000	0.94253	GCG		0.408	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
PCCA	5095	broad.mit.edu	37	13	101077904	101077904	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:101077904G>A	ENST00000376285.1	+	20	1802	c.1764G>A	c.(1762-1764)tcG>tcA	p.S588S	PCCA_ENST00000376279.3_Silent_p.S588S|PCCA_ENST00000376286.4_Silent_p.S562S	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	588					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)	p.S588S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TTGATGGGTCGAAACTAAATG	0.458																																					p.S588S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1764A	13						.						179.0	149.0	159.0					13																	101077904		2203	4300	6503	99875905	SO:0001819	synonymous_variant	5095	exon20			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1764G>A	13.37:g.101077904G>A			99875905	NM_001178004	B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	ENST00000376285.1	37	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	G	8.552	0.875860	0.17395	.	.	ENSG00000175198	ENST00000458283;ENST00000413170	.	.	.	5.7	3.98	0.46160	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54022	-0.8355	4	.	.	.	.	8.6267	0.33895	0.2874:0.0:0.7126:0.0	.	.	.	.	K	41;32	.	.	E	+	1	0	PCCA	99875905	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.498000	0.45363	0.771000	0.33359	0.650000	0.86243	GAA		0.458	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2		
CDC16	8881	broad.mit.edu	37	13	115037740	115037740	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr13:115037740C>T	ENST00000356221.3	+	18	1793	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	CDC16_ENST00000375312.3_Missense_Mutation_p.P417L|CDC16_ENST00000252457.5_Missense_Mutation_p.P561L|CDC16_ENST00000375310.1_Missense_Mutation_p.P468L|CDC16_ENST00000252458.6_Missense_Mutation_p.P417L|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000360383.3_Missense_Mutation_p.P562L|CDC16_ENST00000375308.1_Missense_Mutation_p.P468L|MIR4502_ENST00000580432.1_RNA			Q13042	CDC16_HUMAN	cell division cycle 16	562					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)		p.P561L(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATTTCACCTCCGTGGGATTTC	0.368																																					p.P562L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1685T	13						.						60.0	64.0	63.0					13																	115037740		2203	4300	6503	114055842	SO:0001583	missense	8881	exon18			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1685C>T	13.37:g.115037740C>T	ENSP00000348554:p.Pro562Leu		114055842	NM_001078645	A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200069	0.58126	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	.	.	.	5.44	5.44	0.79542	.	0.304858	0.35525	N	0.003141	T	0.44850	0.1313	N	0.24115	0.695	0.53688	D	0.999979	B;B;B	0.26708	0.006;0.157;0.098	B;B;B	0.16722	0.002;0.016;0.016	T	0.29274	-1.0017	8	.	.	.	-10.3871	19.6248	0.95674	0.0:1.0:0.0:0.0	.	510;561;562	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	L	562;417;562;468;561;468;417	.	.	P	+	2	0	CDC16	114055842	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.877000	0.63086	2.716000	0.92895	0.563000	0.77884	CCG		0.368	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903	
DYNC1H1	1778	broad.mit.edu	37	14	102449506	102449506	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:102449506A>C	ENST00000360184.4	+	6	1276	c.1112A>C	c.(1111-1113)aAa>aCa	p.K371T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	371	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.K371T(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAAACACAAAATATCCTATT	0.423																																					p.K371T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1112C	14						.						78.0	75.0	76.0					14																	102449506		2203	4300	6503	101519259	SO:0001583	missense	1778	exon6			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1112A>C	14.37:g.102449506A>C	ENSP00000348965:p.Lys371Thr		101519259	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577254	0.65878	.	.	ENSG00000197102	ENST00000360184	T	0.58210	0.35	5.88	5.88	0.94601	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	M	0.64080	1.96	0.80722	D	1	D	0.58970	0.984	P	0.60886	0.88	T	0.60393	-0.7272	10	0.13470	T	0.59	.	16.259	0.82532	1.0:0.0:0.0:0.0	.	371	Q14204	DYHC1_HUMAN	T	371	ENSP00000348965:K371T	ENSP00000348965:K371T	K	+	2	0	DYNC1H1	101519259	1.000000	0.71417	0.657000	0.29651	0.990000	0.78478	8.962000	0.93254	2.245000	0.73994	0.482000	0.46254	AAA		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
DYNC1H1	1778	broad.mit.edu	37	14	102453892	102453892	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:102453892G>T	ENST00000360184.4	+	9	2805	c.2641G>T	c.(2641-2643)Gtc>Ttc	p.V881F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	881	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.V881F(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTGAACAGAGTCCAGAAAGC	0.413																																					p.V881F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2641T	14						.						89.0	82.0	84.0					14																	102453892		2203	4300	6503	101523645	SO:0001583	missense	1778	exon9			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2641G>T	14.37:g.102453892G>T	ENSP00000348965:p.Val881Phe		101523645	NM_001376	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743173	0.69418	.	.	ENSG00000197102	ENST00000360184	T	0.33216	1.42	5.78	5.78	0.91487	.	0.057254	0.64402	D	0.000001	T	0.29126	0.0724	L	0.34521	1.04	0.80722	D	1	B	0.32010	0.351	B	0.33042	0.157	T	0.02173	-1.1201	10	0.29301	T	0.29	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	881	Q14204	DYHC1_HUMAN	F	881	ENSP00000348965:V881F	ENSP00000348965:V881F	V	+	1	0	DYNC1H1	101523645	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	6.328000	0.72915	2.894000	0.99253	0.591000	0.81541	GTC		0.413	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
TECPR2	9895	broad.mit.edu	37	14	102843130	102843130	+	Silent	SNP	G	G	A	rs201004031		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:102843130G>A	ENST00000359520.7	+	2	298	c.72G>A	c.(70-72)ccG>ccA	p.P24P	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Silent_p.P24P	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	24					autophagy (GO:0006914)|cell death (GO:0008219)			p.P24P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ATGCCATTCCGACAAAGATCC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21607	0.001		0.0	False		,,,				2504	0.0				p.P24P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G72A	14						.						130.0	108.0	116.0					14																	102843130		2203	4300	6503	101912883	SO:0001819	synonymous_variant	9895	exon2			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.72G>A	14.37:g.102843130G>A			101912883	NM_014844	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	ENST00000359520.7	37	CCDS32162.1																																																																																				0.532	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
CDC42BPB	9578	broad.mit.edu	37	14	103447198	103447198	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:103447198C>T	ENST00000361246.2	-	8	1340	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)									p.R351Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTCTAGGTTTCGTATATTTTC	0.458																																					p.R351Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1052A	14						.						114.0	103.0	107.0					14																	103447198		2203	4300	6503	102516951	SO:0001583	missense	9578	exon8			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1052G>A	14.37:g.103447198C>T	ENSP00000355237:p.Arg351Gln		102516951	NM_006035		Missense_Mutation	SNP	ENST00000361246.2	37	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	35	5.434520	0.96150	.	.	ENSG00000198752	ENST00000361246	T	0.40476	1.03	5.41	5.41	0.78517	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.43456	0.1248	M	0.75615	2.305	0.80722	D	1	D	0.59767	0.986	B	0.34931	0.192	T	0.59408	-0.7460	10	0.87932	D	0	.	19.193	0.93675	0.0:1.0:0.0:0.0	.	351	Q9Y5S2	MRCKB_HUMAN	Q	351	ENSP00000355237:R351Q	ENSP00000355237:R351Q	R	-	2	0	CDC42BPB	102516951	1.000000	0.71417	0.871000	0.34182	0.982000	0.71751	6.070000	0.71220	2.562000	0.86427	0.655000	0.94253	CGA		0.458	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
EIF5	1983	broad.mit.edu	37	14	103803146	103803146	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:103803146T>G	ENST00000216554.3	+	5	963	c.287T>G	c.(286-288)tTt>tGt	p.F96C	SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000392715.2_Missense_Mutation_p.F96C|EIF5_ENST00000558506.1_Missense_Mutation_p.F96C|EIF5_ENST00000560200.1_3'UTR	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	96					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.F96C(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			ATTAAAAAATTTGTTCTCTGT	0.398																																					p.F96C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T287G	14						.						116.0	108.0	111.0					14																	103803146		2203	4300	6503	102872899	SO:0001583	missense	1983	exon4			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.287T>G	14.37:g.103803146T>G	ENSP00000216554:p.Phe96Cys		102872899	NM_183004	Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.242241	0.79912	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	T;T	0.54675	0.56;0.56	5.48	4.29	0.51040	Translation initiation factor IF2/IF5, N-terminal (1);Translation initiation factor IF2/IF5, zinc-binding (1);Translation initiation factor IF2/IF5 (2);	0.046444	0.85682	D	0.000000	T	0.77824	0.4188	H	0.94808	3.585	0.80722	D	1	P	0.46859	0.885	D	0.63192	0.912	T	0.82208	-0.0571	10	0.87932	D	0	-5.5438	12.321	0.54985	0.0:0.0:0.1416:0.8584	.	96	P55010	IF5_HUMAN	C	96	ENSP00000216554:F96C;ENSP00000376477:F96C	ENSP00000216554:F96C	F	+	2	0	EIF5	102872899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.988000	0.88194	0.870000	0.35726	0.454000	0.30748	TTT		0.398	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969	
EIF5	1983	broad.mit.edu	37	14	103806856	103806856	+	Missense_Mutation	SNP	A	A	C	rs555393945	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:103806856A>C	ENST00000216554.3	+	11	1840	c.1164A>C	c.(1162-1164)gaA>gaC	p.E388D	SNORA28_ENST00000606769.1_RNA|EIF5_ENST00000392715.2_Missense_Mutation_p.E388D|EIF5_ENST00000558506.1_Missense_Mutation_p.E388D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	388	Asp/Glu-rich (highly acidic).|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E388D(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CAGAGGAAGAATCTTCTGGTG	0.413																																					p.E388D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1164C	14						.						90.0	95.0	94.0					14																	103806856		2203	4300	6503	102876609	SO:0001583	missense	1983	exon10			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1164A>C	14.37:g.103806856A>C	ENSP00000216554:p.Glu388Asp		102876609	NM_183004	Q53XB3|Q9H5N2|Q9UG48	Missense_Mutation	SNP	ENST00000216554.3	37	CCDS9980.1	.	.	.	.	.	.	.	.	.	.	.	16.97	3.268351	0.59540	.	.	ENSG00000100664	ENST00000216554;ENST00000392715	D;D	0.89810	-2.57;-2.57	5.95	2.25	0.28309	eIF4-gamma/eIF5/eIF2-epsilon (3);MIF4-like, type 1/2/3 (1);	0.200961	0.44097	D	0.000488	D	0.82765	0.5108	L	0.46819	1.47	0.58432	D	0.999993	B	0.11235	0.004	B	0.12156	0.007	T	0.73557	-0.3945	10	0.29301	T	0.29	-19.8484	8.9493	0.35779	0.7906:0.0:0.2094:0.0	.	388	P55010	IF5_HUMAN	D	388	ENSP00000216554:E388D;ENSP00000376477:E388D	ENSP00000216554:E388D	E	+	3	2	EIF5	102876609	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.597000	0.46214	0.487000	0.27698	0.528000	0.53228	GAA		0.413	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969	
MARK3	4140	broad.mit.edu	37	14	103933480	103933480	+	Silent	SNP	C	C	T	rs548618808		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:103933480C>T	ENST00000429436.2	+	11	1572	c.1062C>T	c.(1060-1062)taC>taT	p.Y354Y	MARK3_ENST00000303622.9_Silent_p.Y354Y|MARK3_ENST00000416682.2_Silent_p.Y377Y|MARK3_ENST00000335102.5_Silent_p.Y377Y|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000440884.3_Silent_p.Y275Y|MARK3_ENST00000553942.1_Silent_p.Y354Y|MARK3_ENST00000216288.7_Silent_p.Y354Y	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	354	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y354Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGATGAAATACGATGAAATCA	0.313													T|||	1	0.000199681	0.0	0.0	5008	,	,		16255	0.0		0.001	False		,,,				2504	0.0				p.Y354Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1062T	14						.						100.0	99.0	99.0					14																	103933480		1806	4070	5876	103003233	SO:0001819	synonymous_variant	4140	exon11			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1062C>T	14.37:g.103933480C>T			103003233	NM_001128919	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Silent	SNP	ENST00000429436.2	37	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	T	0.232	-1.020302	0.02061	.	.	ENSG00000075413	ENST00000554627	.	.	.	5.71	-0.777	0.10981	.	.	.	.	.	T	0.58278	0.2111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53063	-0.8491	4	.	.	.	.	11.3538	0.49605	0.0:0.3901:0.0:0.6099	.	.	.	.	M	122	.	.	T	+	2	0	MARK3	103003233	0.997000	0.39634	0.990000	0.47175	0.011000	0.07611	0.350000	0.20079	-0.351000	0.08249	-0.308000	0.09152	ACG		0.313	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918	
APOPT1	84334	broad.mit.edu	37	14	104056532	104056532	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:104056532G>A	ENST00000409074.2	+	5	531	c.530G>A	c.(529-531)cGc>cAc	p.R177H	RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000247618.4_Missense_Mutation_p.R164H|APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000556253.2_3'UTR	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	177					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)		p.R164H(1)									TGGTACAAGCGCAATTTTGCC	0.507																																					p.R177H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A	14						.						197.0	194.0	195.0					14																	104056532		2203	4300	6503	103126285	SO:0001583	missense	84334	exon5			BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"""apoptogenic protein 1"""		"""chromosome 14 open reading frame 153"", ""apoptogenic 1"""	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.530G>A	14.37:g.104056532G>A	ENSP00000386485:p.Arg177His		103126285	NM_032374	Q53G28	Missense_Mutation	SNP	ENST00000409074.2	37	CCDS9983.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999074	0.74818	.	.	ENSG00000256053;ENSG00000256053;ENSG00000256500	ENST00000409074;ENST00000440963;ENST00000247618	T;T;T	0.51071	0.72;0.72;0.72	5.38	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.68317	2.08	0.29458	N	0.857962	D	0.57571	0.98	P	0.54965	0.765	T	0.59627	-0.7419	10	0.66056	D	0.02	.	9.9756	0.41781	0.0934:0.0:0.9066:0.0	.	177	Q96IL0	APOP1_HUMAN	H	177;89;164	ENSP00000386485:R177H;ENSP00000388067:R89H;ENSP00000247618:R164H	ENSP00000247618:R164H	R	+	2	0	C14orf153;RP11-73M18.2	103126285	1.000000	0.71417	0.390000	0.26220	0.930000	0.56654	6.271000	0.72569	1.264000	0.44198	0.655000	0.94253	CGC		0.507	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2	NM_032374	
AHNAK2	113146	broad.mit.edu	37	14	105407832	105407832	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:105407832G>A	ENST00000333244.5	-	7	14075	c.13956C>T	c.(13954-13956)atC>atT	p.I4652I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4652						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATTTCCTTCGATTTCAGAGG	0.418																																					p.I4652I												.	.	0			c.C13956T	14						.						46.0	51.0	49.0					14																	105407832		1930	4116	6046	104478877	SO:0001819	synonymous_variant	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13956C>T	14.37:g.105407832G>A			104478877	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.418	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105408032	105408032	+	Missense_Mutation	SNP	C	C	T	rs559049528		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:105408032C>T	ENST00000333244.5	-	7	13875	c.13756G>A	c.(13756-13758)Gat>Aat	p.D4586N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4586						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D4586N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCACATCGGGGGCCATC	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18756	0.0		0.0	False		,,,				2504	0.0				p.D4586N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13756A	14						.						95.0	107.0	103.0					14																	105408032		1962	4142	6104	104479077	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13756G>A	14.37:g.105408032C>T	ENSP00000353114:p.Asp4586Asn		104479077	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647450	0.47258	.	.	ENSG00000185567	ENST00000333244	T	0.03035	4.07	3.45	2.22	0.28083	.	.	.	.	.	T	0.12774	0.0310	M	0.81341	2.54	0.09310	N	1	D	0.76494	0.999	D	0.72625	0.978	T	0.20571	-1.0271	9	0.18276	T	0.48	.	5.0963	0.14735	0.177:0.6127:0.0:0.2103	.	4586	Q8IVF2	AHNK2_HUMAN	N	4586	ENSP00000353114:D4586N	ENSP00000353114:D4586N	D	-	1	0	AHNAK2	104479077	0.000000	0.05858	0.011000	0.14972	0.008000	0.06430	-0.064000	0.11636	1.470000	0.48102	0.306000	0.20318	GAT		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105408302	105408302	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:105408302C>T	ENST00000333244.5	-	7	13605	c.13486G>A	c.(13486-13488)Gac>Aac	p.D4496N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4496						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D4496N(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGCTCATGTCGGCCTCCATC	0.587																																					p.D4496N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13486A	14						.						150.0	158.0	155.0					14																	105408302		2042	4182	6224	104479347	SO:0001583	missense	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13486G>A	14.37:g.105408302C>T	ENSP00000353114:p.Asp4496Asn		104479347	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985420	0.35036	.	.	ENSG00000185567	ENST00000333244	T	0.02140	4.43	3.6	2.71	0.32032	.	0.467007	0.15203	U	0.274938	T	0.06781	0.0173	M	0.63208	1.945	0.09310	N	1	D	0.69078	0.997	P	0.58873	0.847	T	0.26292	-1.0107	10	0.38643	T	0.18	-12.3735	7.8826	0.29631	0.0:0.742:0.1614:0.0967	.	4496	Q8IVF2	AHNK2_HUMAN	N	4496	ENSP00000353114:D4496N	ENSP00000353114:D4496N	D	-	1	0	AHNAK2	104479347	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.064000	0.11636	0.493000	0.27837	-0.683000	0.03753	GAC		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
OR4K5	79317	broad.mit.edu	37	14	20389116	20389116	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:20389116G>A	ENST00000315915.4	+	1	376	c.351G>A	c.(349-351)tcG>tcA	p.S117S		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S117S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTGTTTCGATGGCCTATG	0.448																																					p.S117S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G351A	14						.						214.0	218.0	217.0					14																	20389116		2203	4300	6503	19458956	SO:0001819	synonymous_variant	79317	exon1			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.351G>A	14.37:g.20389116G>A			19458956	NM_001005483	Q6IFA7	Silent	SNP	ENST00000315915.4	37	CCDS32024.1																																																																																				0.448	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483	
OR4K1	79544	broad.mit.edu	37	14	20403976	20403976	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:20403976T>G	ENST00000285600.4	+	1	210	c.151T>G	c.(151-153)Ttt>Gtt	p.F51V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F51V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CATTATTTCTTTTGACTCCCA	0.373																																					p.F51V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T151G	14						.						324.0	342.0	336.0					14																	20403976		2203	4300	6503	19473816	SO:0001583	missense	79544	exon1				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.151T>G	14.37:g.20403976T>G	ENSP00000285600:p.Phe51Val		19473816	NM_001004063	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	1.468	-0.560666	0.03939	.	.	ENSG00000155249	ENST00000285600	T	0.02863	4.13	4.77	0.916	0.19373	GPCR, rhodopsin-like superfamily (1);	0.631679	0.14898	N	0.291965	T	0.01353	0.0044	N	0.10760	0.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47509	-0.9112	10	0.27082	T	0.32	.	1.3637	0.02197	0.2991:0.087:0.1547:0.4592	.	51	Q8NGD4	OR4K1_HUMAN	V	51	ENSP00000285600:F51V	ENSP00000285600:F51V	F	+	1	0	OR4K1	19473816	0.000000	0.05858	0.013000	0.15412	0.269000	0.26545	-0.615000	0.05597	0.305000	0.22832	-0.429000	0.05907	TTT		0.373	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1		
OR4K1	79544	broad.mit.edu	37	14	20404052	20404052	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:20404052T>C	ENST00000285600.4	+	1	286	c.227T>C	c.(226-228)tTt>tCt	p.F76S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F76S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAGTCTAACTTTGCCACCCCC	0.388																																					p.F76S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T227C	14						.						213.0	224.0	220.0					14																	20404052		2203	4300	6503	19473892	SO:0001583	missense	79544	exon1				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.227T>C	14.37:g.20404052T>C	ENSP00000285600:p.Phe76Ser		19473892	NM_001004063	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.179034	0.38511	.	.	ENSG00000155249	ENST00000285600	T	0.00433	7.43	4.94	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.225613	0.31922	N	0.006841	T	0.00210	0.0006	N	0.04043	-0.29	0.29085	N	0.88247	P	0.36587	0.559	B	0.38327	0.271	T	0.48747	-0.9008	10	0.51188	T	0.08	.	8.6508	0.34033	0.0:0.0916:0.0:0.9084	.	76	Q8NGD4	OR4K1_HUMAN	S	76	ENSP00000285600:F76S	ENSP00000285600:F76S	F	+	2	0	OR4K1	19473892	0.003000	0.15002	0.992000	0.48379	0.994000	0.84299	0.800000	0.27042	0.901000	0.36495	0.533000	0.62120	TTT		0.388	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1		
OR11G2	390439	broad.mit.edu	37	14	20665972	20665972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:20665972C>T	ENST00000357366.3	+	1	478	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R160*(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GGCATTTGATCGATACCTTGC	0.468																																					p.R160X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C478T	14						.						92.0	83.0	86.0					14																	20665972		2203	4300	6503	19735812	SO:0001587	stop_gained	390439	exon1				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.478C>T	14.37:g.20665972C>T	ENSP00000349930:p.Arg160*		19735812	NM_001005503	Q6IF09|Q96R33	Nonsense_Mutation	SNP	ENST00000357366.3	37	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	24.0	4.480395	0.84747	.	.	ENSG00000196832	ENST00000357366	.	.	.	4.93	1.88	0.25563	.	0.000000	0.40818	N	0.001001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9476	0.58382	0.544:0.456:0.0:0.0	.	.	.	.	X	160	.	ENSP00000349930:R160X	R	+	1	2	OR11G2	19735812	0.430000	0.25538	0.985000	0.45067	0.947000	0.59692	0.252000	0.18278	0.634000	0.30469	-0.158000	0.13435	CGA		0.468	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1		
OR11H4	390442	broad.mit.edu	37	14	20711911	20711911	+	Missense_Mutation	SNP	C	C	T	rs139038954	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:20711911C>T	ENST00000315409.2	+	1	1014	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	321						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R321C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		AATGAGAATTCGTCAAAATTC	0.393													C|||	5	0.000998403	0.0038	0.0	5008	,	,		22464	0.0		0.0	False		,,,				2504	0.0				p.R321C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C961T	14						.	C	CYS/ARG	22,4376	28.1+/-56.4	0,22,2177	63.0	66.0	65.0		961	1.2	0.1	14	dbSNP_134	65	0,8600		0,0,4300	yes	missense	OR11H4	NM_001004479.1	180	0,22,6477	TT,TC,CC		0.0,0.5002,0.1693	benign	321/325	20711911	22,12976	2199	4300	6499	19781751	SO:0001583	missense	390442	exon1				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.961C>T	14.37:g.20711911C>T	ENSP00000318997:p.Arg321Cys		19781751	NM_001004479	B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	CCDS32034.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.873	-0.731284	0.03135	0.005002	0.0	ENSG00000176198	ENST00000315409	T	0.39787	1.06	5.03	1.23	0.21249	.	0.561162	0.17193	N	0.183427	T	0.15522	0.0374	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12372	-1.0550	10	0.37606	T	0.19	-0.4335	0.6601	0.00841	0.4812:0.1627:0.1812:0.1749	.	321	Q8NGC9	O11H4_HUMAN	C	321	ENSP00000318997:R321C	ENSP00000318997:R321C	R	+	1	0	OR11H4	19781751	0.000000	0.05858	0.137000	0.22149	0.058000	0.15608	-0.434000	0.06939	0.051000	0.15978	-0.266000	0.10368	CGT		0.393	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1		
RNASE11	122651	broad.mit.edu	37	14	21052172	21052172	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:21052172T>C	ENST00000610205.1	-	3	645	c.462A>G	c.(460-462)gaA>gaG	p.E154E	RNASE11_ENST00000555841.1_Silent_p.E154E|RNASE11_ENST00000553849.1_Silent_p.E154E|RNASE11_ENST00000398009.2_Silent_p.E154E|RNASE11_ENST00000432835.2_Silent_p.E154E|RNASE11_ENST00000398008.2_Silent_p.E154E	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	154						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)	p.E154E(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ACACTGTATTTTCCAGTTCTA	0.498																																					p.E154E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A462G	14						.						94.0	80.0	85.0					14																	21052172		2203	4300	6503	20122012	SO:0001819	synonymous_variant	122651	exon3			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.462A>G	14.37:g.21052172T>C			20122012	NM_145250		Silent	SNP	ENST00000610205.1	37	CCDS9553.1																																																																																				0.498	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250	
TOX4	9878	broad.mit.edu	37	14	21960729	21960729	+	Silent	SNP	T	T	C	rs200779590		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:21960729T>C	ENST00000405508.1	+	8	1230	c.954T>C	c.(952-954)ccT>ccC	p.P318P	TOX4_ENST00000262709.3_Silent_p.P318P|TOX4_ENST00000448790.2_Silent_p.P295P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	318						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.P318P(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTCCACCTCCTATGGCTACTG	0.468																																					p.P318P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T954C	14						.						125.0	118.0	121.0					14																	21960729		2203	4300	6503	21030569	SO:0001819	synonymous_variant	9878	exon7			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.954T>C	14.37:g.21960729T>C			21030569	NM_014828	B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	CCDS32043.1																																																																																				0.468	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828	
ABHD4	63874	broad.mit.edu	37	14	23072381	23072381	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:23072381G>A	ENST00000428304.2	+	3	269	c.199G>A	c.(199-201)Gac>Aac	p.D67N	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	67					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.D67N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CGAGCAAAACGACCGCACCCC	0.567																																					p.D67N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G199A	14						.						41.0	37.0	39.0					14																	23072381		2203	4300	6503	22142221	SO:0001583	missense	63874	exon3			AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.199G>A	14.37:g.23072381G>A	ENSP00000414558:p.Asp67Asn		22142221	NM_022060	B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282900	0.23392	.	.	ENSG00000100439	ENST00000428304;ENST00000542041	D;T	0.83992	-1.79;3.61	5.6	5.6	0.85130	.	0.531892	0.22258	N	0.062450	T	0.63141	0.2486	N	0.03154	-0.405	0.30254	N	0.793785	B;B	0.12630	0.006;0.0	B;B	0.10450	0.005;0.001	T	0.57499	-0.7801	10	0.22109	T	0.4	-9.5566	10.5338	0.44992	0.0871:0.0:0.9129:0.0	.	67;67	B4DNZ5;Q8TB40	.;ABHD4_HUMAN	N	67;43	ENSP00000414558:D67N;ENSP00000437385:D43N	ENSP00000388751:D67N	D	+	1	0	ABHD4	22142221	0.948000	0.32251	0.999000	0.59377	0.988000	0.76386	1.688000	0.37690	2.644000	0.89710	0.655000	0.94253	GAC		0.567	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3		
ABHD4	63874	broad.mit.edu	37	14	23072967	23072967	+	Missense_Mutation	SNP	G	G	A	rs368142560		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:23072967G>A	ENST00000428304.2	+	4	693	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	208					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.R208Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		GCTGTTCTTCGAGTAGCTGGG	0.532																																					p.R208Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	14						.	G	GLN/ARG	0,4406		0,0,2203	80.0	78.0	79.0		623	5.3	1.0	14		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABHD4	NM_022060.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	208/343	23072967	1,13005	2203	4300	6503	22142807	SO:0001583	missense	63874	exon4			AK022878	CCDS9572.1	14q11.1	2006-10-06			ENSG00000100439	ENSG00000100439		"""Abhydrolase domain containing"""	20154	protein-coding gene	gene with protein product							Standard	NM_022060		Approved	FLJ12816	uc001wgm.3	Q8TB40	OTTHUMG00000028686	ENST00000428304.2:c.623G>A	14.37:g.23072967G>A	ENSP00000414558:p.Arg208Gln		22142807	NM_022060	B4DDH7|Q9H9E0	Missense_Mutation	SNP	ENST00000428304.2	37	CCDS9572.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086350	0.94100	0.0	1.16E-4	ENSG00000100439	ENST00000428304;ENST00000216327	T;T	0.69435	-0.4;-0.4	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.978	D	0.83712	0.0188	10	0.62326	D	0.03	-5.6992	16.8221	0.85835	0.0:0.0:1.0:0.0	.	208;208	B4DNZ5;Q8TB40	.;ABHD4_HUMAN	Q	208;142	ENSP00000414558:R208Q;ENSP00000216327:R142Q	ENSP00000216327:R142Q	R	+	2	0	ABHD4	22142807	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.579000	0.98204	2.644000	0.89710	0.655000	0.94253	CGA		0.532	ABHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071623.3		
SLC22A17	51310	broad.mit.edu	37	14	23817127	23817127	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:23817127T>G	ENST00000206544.8	-	6	1253	c.917A>C	c.(916-918)aAa>aCa	p.K306T	SLC22A17_ENST00000354772.3_Missense_Mutation_p.K306T|SLC22A17_ENST00000397267.1_Missense_Mutation_p.K306T|SLC22A17_ENST00000474057.1_Intron|SLC22A17_ENST00000397260.3_Missense_Mutation_p.K195T	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	306					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)	p.K306T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AAGCAGATTTTTCCAGATGTT	0.582																																					p.K306T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A917C	14						.						116.0	133.0	127.0					14																	23817127		2203	4300	6503	22886967	SO:0001583	missense	51310	exon6			AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.917A>C	14.37:g.23817127T>G	ENSP00000206544:p.Lys306Thr		22886967	NM_020372	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Missense_Mutation	SNP	ENST00000206544.8	37	CCDS9593.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.011751	0.54468	.	.	ENSG00000092096	ENST00000354772;ENST00000397260;ENST00000206544;ENST00000397267	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	4.89	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.219310	0.37178	N	0.002213	T	0.78240	0.4252	L	0.59912	1.85	0.47737	D	0.999502	D;D	0.89917	0.999;1.0	D;D	0.72982	0.958;0.979	T	0.78114	-0.2330	10	0.48119	T	0.1	-4.796	8.3173	0.32108	0.0:0.0894:0.0:0.9106	.	306;306	Q8WUG5-2;Q8WUG5	.;S22AH_HUMAN	T	306;195;306;306	ENSP00000346824:K306T;ENSP00000380430:K195T;ENSP00000206544:K306T;ENSP00000380437:K306T	ENSP00000206544:K306T	K	-	2	0	SLC22A17	22886967	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.733000	0.47360	2.069000	0.61940	0.533000	0.62120	AAA		0.582	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	NM_020372	
MYH7	4625	broad.mit.edu	37	14	23894622	23894622	+	Missense_Mutation	SNP	G	G	T	rs121913643		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:23894622G>T	ENST00000355349.3	-	21	2454	c.2292C>A	c.(2290-2292)ttC>ttA	p.F764L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	764	Actin-binding.|Myosin motor.		F -> L (in CMD1S). {ECO:0000269|PubMed:11106718}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGGCCTTGAAGAACACCTGCA	0.592																																					p.F764L												.	.	0			c.C2292A	14	GRCh37	CM003003	MYH7	M	rs121913643	.						48.0	46.0	46.0					14																	23894622		2203	4300	6503	22964462	SO:0001583	missense	4625	exon21			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2292C>A	14.37:g.23894622G>T	ENSP00000347507:p.Phe764Leu		22964462	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113628	0.56398	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.98666	-5.06	4.6	2.76	0.32466	Myosin head, motor domain (2);	.	.	.	.	D	0.98732	0.9574	H	0.96239	3.79	0.58432	D	0.999992	B	0.21309	0.054	B	0.34418	0.182	D	0.99966	1.1861	9	0.59425	D	0.04	.	11.5354	0.50634	0.1556:0.0:0.8444:0.0	.	764	P12883	MYH7_HUMAN	L	764	ENSP00000347507:F764L	ENSP00000347507:F764L	F	-	3	2	MYH7	22964462	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.295000	0.43576	1.285000	0.44548	0.563000	0.77884	TTC		0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
MYH7	4625	broad.mit.edu	37	14	23897746	23897746	+	Missense_Mutation	SNP	C	C	T	rs397516111		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:23897746C>T	ENST00000355349.3	-	15	1703	c.1541G>A	c.(1540-1542)gGc>gAc	p.G514D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	514	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.G514D(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGGTCCATGCCAAAGTCAAT	0.512																																					p.G514D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1541A	14						.						254.0	184.0	207.0					14																	23897746		2203	4300	6503	22967586	SO:0001583	missense	4625	exon15			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1541G>A	14.37:g.23897746C>T	ENSP00000347507:p.Gly514Asp		22967586	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757379	0.89843	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87887	-2.31	4.46	4.46	0.54185	Myosin head, motor domain (3);	.	.	.	.	D	0.94798	0.8320	M	0.91459	3.21	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	D	0.95953	0.8956	9	0.72032	D	0.01	.	17.3	0.87180	0.0:1.0:0.0:0.0	.	514	P12883	MYH7_HUMAN	D	514	ENSP00000347507:G514D	ENSP00000347507:G514D	G	-	2	0	MYH7	22967586	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.419000	0.80179	2.312000	0.78011	0.551000	0.68910	GGC		0.512	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
MYH7	4625	broad.mit.edu	37	14	23902831	23902831	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:23902831G>T	ENST00000355349.3	-	3	273	c.111C>A	c.(109-111)gtC>gtA	p.V37V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	37					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.V37V(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGGCACGAAGACATCCTTCT	0.572																																					p.V37V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C111A	14						.						123.0	105.0	111.0					14																	23902831		2203	4300	6503	22972671	SO:0001819	synonymous_variant	4625	exon3			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.111C>A	14.37:g.23902831G>T			22972671	NM_000257	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.572	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
CPNE6	9362	broad.mit.edu	37	14	24543919	24543919	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:24543919T>C	ENST00000397016.2	+	8	898	c.587T>C	c.(586-588)gTg>gCg	p.V196A	CPNE6_ENST00000537691.1_Missense_Mutation_p.V251A|CPNE6_ENST00000216775.2_Missense_Mutation_p.V196A	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	196	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.V196A(1)		endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TCCAAGGTGGTGAAGAACAAC	0.577																																					p.V196A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T587C	14						.						84.0	81.0	82.0					14																	24543919		2203	4300	6503	23613759	SO:0001583	missense	9362	exon7			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.587T>C	14.37:g.24543919T>C	ENSP00000380211:p.Val196Ala		23613759	NM_006032	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315974	0.60524	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.44881	0.91;0.91;0.91	4.89	4.89	0.63831	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.49916	D	0.000122	T	0.64260	0.2582	M	0.82132	2.575	0.40593	D	0.981501	D;D	0.65815	0.994;0.995	D;D	0.68353	0.946;0.957	T	0.70898	-0.4747	10	0.87932	D	0	-17.3088	12.7425	0.57261	0.0:0.0:0.0:1.0	.	251;196	F5GXN1;O95741	.;CPNE6_HUMAN	A	251;196;196	ENSP00000440077:V251A;ENSP00000380211:V196A;ENSP00000216775:V196A	ENSP00000216775:V196A	V	+	2	0	CPNE6	23613759	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.222000	0.72249	1.971000	0.57363	0.260000	0.18958	GTG		0.577	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5		
PCK2	5106	broad.mit.edu	37	14	24567525	24567525	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:24567525A>C	ENST00000216780.4	+	3	657	c.389A>C	c.(388-390)cAg>cCg	p.Q130P	PCK2_ENST00000559250.1_Missense_Mutation_p.Q142P|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_5'UTR|PCK2_ENST00000396973.4_Missense_Mutation_p.Q130P|PCK2_ENST00000561286.1_5'UTR|PCK2_ENST00000545054.2_5'UTR	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	130					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GCCCGTGGGCAGCTGGGCAAC	0.607																																					p.Q130P												.	.	0			c.A389C	14						.						48.0	40.0	43.0					14																	24567525		2203	4300	6503	23637365	SO:0001583	missense	5106	exon3			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.389A>C	14.37:g.24567525A>C	ENSP00000216780:p.Gln130Pro		23637365	NM_001018073	O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.530140	0.27387	.	.	ENSG00000100889	ENST00000216780;ENST00000396973	T;T	0.11385	2.78;2.78	5.19	5.19	0.71726	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.28134	0.0694	M	0.66939	2.045	0.80722	D	1	B;D;B	0.61697	0.0;0.99;0.0	B;D;B	0.70227	0.003;0.968;0.003	T	0.01858	-1.1259	10	0.26408	T	0.33	-14.6303	12.9921	0.58625	1.0:0.0:0.0:0.0	.	130;130;130	Q16822;Q16822-2;Q6IB91	PCKGM_HUMAN;.;.	P	130	ENSP00000216780:Q130P;ENSP00000380171:Q130P	ENSP00000216780:Q130P	Q	+	2	0	PCK2	23637365	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	1.959000	0.56917	0.379000	0.24179	CAG		0.607	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073	
DCAF11	80344	broad.mit.edu	37	14	24584850	24584850	+	Missense_Mutation	SNP	C	C	T	rs143599073		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:24584850C>T	ENST00000446197.3	+	2	774	c.47C>T	c.(46-48)cCc>cTc	p.P16L	DCAF11_ENST00000396941.4_Missense_Mutation_p.P16L|NRL_ENST00000561028.1_5'Flank|DCAF11_ENST00000396936.1_5'UTR|DCAF11_ENST00000559115.1_Missense_Mutation_p.P16L|DCAF11_ENST00000560171.1_3'UTR	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	16					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TCCGGAGACCCCTCCGAGGGC	0.617													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18299	0.0		0.0	False		,,,				2504	0.0				p.P16L												.	.	0			c.C47T	14						.	C	LEU/PRO,LEU/PRO,LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	63.0	70.0	68.0		47,47,47	5.7	1.0	14	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense,missense	DCAF11	NM_181357.2,NM_025230.4,NM_001163484.1	98,98,98	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign,benign	16/521,16/547,16/547	24584850	3,13003	2203	4300	6503	23654690	SO:0001583	missense	80344	exon2			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.47C>T	14.37:g.24584850C>T	ENSP00000415556:p.Pro16Leu		23654690	NM_001163484	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	ENST00000446197.3	37	CCDS9610.1	5	0.0022893772893772895	3	0.006097560975609756	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	c	15.63	2.889117	0.52014	6.81E-4	0.0	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396941	T;T	0.64438	0.31;-0.1	5.69	5.69	0.88448	.	0.356881	0.28104	N	0.016586	T	0.51432	0.1674	L	0.47716	1.5	0.80722	D	1	P;B	0.34934	0.476;0.345	B;B	0.36534	0.116;0.227	T	0.57159	-0.7859	10	0.45353	T	0.12	0.0	17.2979	0.87174	0.0:1.0:0.0:0.0	.	16;16	Q8TEB1-2;Q8TEB1	.;DCA11_HUMAN	L	16	ENSP00000415556:P16L;ENSP00000380146:P16L	ENSP00000323680:P16L	P	+	2	0	DCAF11	23654690	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.815000	0.48018	2.677000	0.91161	0.484000	0.47621	CCC		0.617	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		
PSME1	5720	broad.mit.edu	37	14	24606746	24606746	+	Silent	SNP	A	A	G	rs376506250		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:24606746A>G	ENST00000206451.6	+	5	369	c.264A>G	c.(262-264)gaA>gaG	p.E88E	PSME1_ENST00000382708.3_Silent_p.E88E|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000561435.1_Silent_p.E88E|EMC9_ENST00000558200.1_5'Flank	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	88					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)	p.E88E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		ACAAGGATGAAAAGAAGAAGG	0.488																																					p.E88E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A264G	14						.						81.0	93.0	89.0					14																	24606746		2203	4300	6503	23676586	SO:0001819	synonymous_variant	5720	exon5				CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.264A>G	14.37:g.24606746A>G			23676586	NM_176783	A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Silent	SNP	ENST00000206451.6	37	CCDS9612.1																																																																																				0.488	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2	NM_006263	
EMC9	51016	broad.mit.edu	37	14	24608758	24608758	+	Missense_Mutation	SNP	A	A	C	rs371392589		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:24608758A>C	ENST00000419198.2	-	3	621	c.341T>G	c.(340-342)aTt>aGt	p.I114S	EMC9_ENST00000216799.4_Missense_Mutation_p.I114S|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000560403.1_Missense_Mutation_p.I40S|EMC9_ENST00000558200.1_5'UTR			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	114						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											CCTCACCATAATAAGTACTGC	0.527																																					p.I114S												.	.	0			c.T341G	14						.						53.0	51.0	52.0					14																	24608758		2203	4300	6503	23678598	SO:0001583	missense	51016	exon4			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.341T>G	14.37:g.24608758A>C	ENSP00000403210:p.Ile114Ser		23678598	NM_016049	D3DS60|Q9BUM3	Missense_Mutation	SNP	ENST00000419198.2	37	CCDS9613.1	.	.	.	.	.	.	.	.	.	.	a	16.91	3.252266	0.59212	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.47528	0.84;0.84	5.54	5.54	0.83059	.	0.186087	0.44688	D	0.000437	T	0.52725	0.1752	L	0.61218	1.895	0.80722	D	1	P	0.38335	0.627	P	0.44623	0.455	T	0.57388	-0.7820	10	0.72032	D	0.01	-34.4391	11.9958	0.53201	1.0:0.0:0.0:0.0	.	114	Q9Y3B6	F158A_HUMAN	S	114	ENSP00000403210:I114S;ENSP00000216799:I114S	ENSP00000216799:I114S	I	-	2	0	FAM158A	23678598	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.588000	0.53964	2.326000	0.78906	0.533000	0.62120	ATT		0.527	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4	NM_016049	
IRF9	10379	broad.mit.edu	37	14	24632299	24632299	+	Missense_Mutation	SNP	G	G	A	rs370001528		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:24632299G>A	ENST00000396864.3	+	3	592	c.305G>A	c.(304-306)cGc>cAc	p.R102H	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	102					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R102H(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GAGAGGGGCCGCATGGATGTT	0.542																																					p.R102H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305A	14						.	G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	100.0	96.0	98.0		305	1.6	0.0	14		98	0,8600		0,0,4300	no	missense	IRF9	NM_006084.4	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	102/394	24632299	2,13004	2203	4300	6503	23702139	SO:0001583	missense	10379	exon3			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.305G>A	14.37:g.24632299G>A	ENSP00000380073:p.Arg102His		23702139	NM_006084	D3DS61	Missense_Mutation	SNP	ENST00000396864.3	37	CCDS9615.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347794	0.24426	4.54E-4	0.0	ENSG00000213928	ENST00000396864;ENST00000324076	D;D	0.97959	-4.63;-4.56	5.09	1.61	0.23674	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.183467	0.36740	N	0.002422	D	0.92074	0.7488	N	0.16833	0.445	0.58432	D	0.999995	B	0.16802	0.019	B	0.12156	0.007	D	0.84497	0.0614	10	0.26408	T	0.33	-18.0856	7.4865	0.27437	0.4973:0.0:0.5027:0.0	.	102	Q00978	IRF9_HUMAN	H	102;32	ENSP00000380073:R102H;ENSP00000313529:R32H	ENSP00000313529:R32H	R	+	2	0	IRF9	23702139	0.989000	0.36119	0.017000	0.16124	0.533000	0.34776	2.734000	0.47368	0.384000	0.24942	0.655000	0.94253	CGC		0.542	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071927.2		
TSSK4	283629	broad.mit.edu	37	14	24675283	24675283	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:24675283G>A	ENST00000287913.6	+	1	322	c.154G>A	c.(154-156)Gca>Aca	p.A52T	TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000339917.5_Missense_Mutation_p.A52T|TSSK4_ENST00000428351.2_Missense_Mutation_p.A52T|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000556621.1_Intron			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	52	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.A52T(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GGTTATGGTGGCAGTCAAGAT	0.488																																					p.A52T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G154A	14						.						175.0	164.0	167.0					14																	24675283		2203	4300	6503	23745123	SO:0001583	missense	283629	exon1			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.154G>A	14.37:g.24675283G>A	ENSP00000287913:p.Ala52Thr		23745123	NM_174944	Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.694640|3.694640	0.68386|0.68386	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000339917;ENST00000287913;ENST00000428351|ENST00000555092	T;T;T|.	0.73681|.	0.01;0.01;-0.77|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.44688|.	D|.	0.000431|.	T|T	0.80788|0.80788	0.4690|0.4690	M|M	0.89601|0.89601	3.045|3.045	0.48040|0.48040	D|D	0.999579|0.999579	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.83923|0.83923	0.0302|0.0302	10|5	0.87932|.	D|.	0|.	.|.	14.2497|14.2497	0.66011|0.66011	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	52;52|.	Q6SA08-2;Q6SA08|.	.;TSSK4_HUMAN|.	T|D	52|46	ENSP00000339179:A52T;ENSP00000287913:A52T;ENSP00000412180:A52T|.	ENSP00000287913:A52T|.	A|G	+|+	1|2	0|0	TSSK4|TSSK4	23745123|23745123	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.721000|0.721000	0.41392|0.41392	6.636000|6.636000	0.74299|0.74299	2.745000|2.745000	0.94114|0.94114	0.462000|0.462000	0.41574|0.41574	GCA|GGC		0.488	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3	NM_174944	
RABGGTA	5875	broad.mit.edu	37	14	24737771	24737771	+	Missense_Mutation	SNP	G	G	A	rs369745480		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:24737771G>A	ENST00000399409.3	-	9	1438	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Missense_Mutation_p.R319C|RABGGTA_ENST00000559586.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	319					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.R319C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CAAATGACGCGAAATGTATGT	0.537																																					p.R319C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C955T	14						.	G	CYS/ARG,CYS/ARG	1,4119		0,1,2059	98.0	101.0	100.0		955,955	3.4	1.0	14		100	0,8408		0,0,4204	no	missense,missense	RABGGTA	NM_004581.3,NM_182836.1	180,180	0,1,6263	AA,AG,GG		0.0,0.0243,0.0080	benign,benign	319/568,319/568	24737771	1,12527	2060	4204	6264	23807611	SO:0001583	missense	5875	exon9				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.955C>T	14.37:g.24737771G>A	ENSP00000382341:p.Arg319Cys		23807611	NM_004581	A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.340821	0.24339	2.43E-4	0.0	ENSG00000100949	ENST00000216840;ENST00000399409;ENST00000543002	T;T	0.49720	0.77;0.77	5.24	3.36	0.38483	Rab geranylgeranyltransferase, alpha subunit, insert-domain (4);	0.184782	0.51477	D	0.000085	T	0.39489	0.1080	L	0.44542	1.39	0.80722	D	1	B	0.22983	0.078	B	0.22880	0.042	T	0.33752	-0.9856	10	0.46703	T	0.11	-2.9693	11.947	0.52934	0.1543:0.0:0.8457:0.0	.	319	Q92696	PGTA_HUMAN	C	319;319;282	ENSP00000216840:R319C;ENSP00000382341:R319C	ENSP00000216840:R319C	R	-	1	0	RABGGTA	23807611	0.996000	0.38824	0.998000	0.56505	0.621000	0.37620	2.504000	0.45416	1.336000	0.45506	0.563000	0.77884	CGC		0.537	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836	
RIPK3	11035	broad.mit.edu	37	14	24806395	24806395	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:24806395G>A	ENST00000216274.5	-	8	1390	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000418030.2_5'Flank|RIPK3_ENST00000554338.1_5'Flank|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.S65L|ADCY4_ENST00000310677.4_5'Flank|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000396747.3_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	391	Pro-rich.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)	p.S391L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TTGGGCCATCGAATCTGAAGA	0.557																																					p.S391L	Pancreas(58;918 1191 4668 13304 15331)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1172T	14						.						154.0	152.0	153.0					14																	24806395		2203	4300	6503	23876235	SO:0001583	missense	11035	exon8			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1172C>T	14.37:g.24806395G>A	ENSP00000216274:p.Ser391Leu		23876235	NM_006871	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	CCDS9628.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.254270|4.254270	0.80135|0.80135	.|.	.|.	ENSG00000129465|ENSG00000258973;ENSG00000129465	ENST00000554569|ENST00000555591;ENST00000216274	.|T	.|0.78707	.|-1.2	4.35|4.35	4.35|4.35	0.52113|0.52113	.|.	.|0.535972	.|0.15870	.|N	.|0.240582	.|T	.|0.80639	.|0.4661	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;P	.|0.70016	.|0.967;0.629	.|T	.|0.70901	.|-0.4746	.|10	.|0.62326	.|D	.|0.03	-3.0333|-3.0333	12.6832|12.6832	0.56934|0.56934	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|65;391	.|G3V2L1;Q9Y572	.|.;RIPK3_HUMAN	X|L	72|65;391	.|ENSP00000216274:S391L	.|ENSP00000216274:S391L	R|S	-|-	1|2	2|0	RIPK3|RIPK3;RP11-934B9.3	23876235|23876235	0.172000|0.172000	0.23043|0.23043	0.011000|0.011000	0.14972|0.14972	0.517000|0.517000	0.34286|0.34286	3.692000|3.692000	0.54727|0.54727	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.557	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871	
FOXG1	2290	broad.mit.edu	37	14	29237174	29237174	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:29237174G>A	ENST00000313071.4	+	1	888	c.689G>A	c.(688-690)cGc>cAc	p.R230H	RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R230H|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	230					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R230H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AACTCCATCCGCCACAATCTG	0.592																																					p.R230H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G689A	14						.						47.0	47.0	47.0					14																	29237174		2203	4300	6503	28306925	SO:0001583	missense	2290	exon1				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.689G>A	14.37:g.29237174G>A	ENSP00000339004:p.Arg230His		28306925	NM_005249	A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969282	0.92855	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.98075	-4.7;-4.7	4.01	4.01	0.46588	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.136393	0.49305	U	0.000159	D	0.99155	0.9708	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99047	1.0826	10	0.87932	D	0	.	15.7637	0.78106	0.0:0.0:1.0:0.0	.	230	P55316	FOXG1_HUMAN	H	230	ENSP00000371975:R230H;ENSP00000339004:R230H	ENSP00000339004:R230H	R	+	2	0	FOXG1	28306925	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.736000	0.98828	1.773000	0.52216	0.306000	0.20318	CGC		0.592	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3		
PRKD1	5587	broad.mit.edu	37	14	30194878	30194878	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:30194878G>A	ENST00000331968.5	-	2	496	c.267C>T	c.(265-267)ttC>ttT	p.F89F	PRKD1_ENST00000415220.2_Silent_p.F89F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	89					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.F89F(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CACATTCAGGGAACTGCAAAT	0.373																																					p.F89F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C267T	14						.						86.0	79.0	81.0					14																	30194878		2203	4300	6503	29264629	SO:0001819	synonymous_variant	5587	exon2				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.267C>T	14.37:g.30194878G>A			29264629	NM_002742	A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	CCDS9637.1																																																																																				0.373	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
G2E3	55632	broad.mit.edu	37	14	31061581	31061581	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:31061581G>A	ENST00000206595.6	+	5	444	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	G2E3_ENST00000438909.2_Missense_Mutation_p.R51Q|G2E3_ENST00000553504.1_Missense_Mutation_p.R127Q|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	97					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R97Q(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTTGCACCCCGATGTAAACGA	0.353																																					p.R97Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G290A	14						.						128.0	122.0	124.0					14																	31061581		2203	4300	6503	30131332	SO:0001583	missense	55632	exon5			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.290G>A	14.37:g.31061581G>A	ENSP00000206595:p.Arg97Gln		30131332	NM_017769	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730840	0.30684	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.93	2.75	0.32379	Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);	0.353495	0.34067	N	0.004286	T	0.52948	0.1766	L	0.35341	1.055	0.09310	N	1	B;B	0.25563	0.129;0.068	B;B	0.23419	0.046;0.009	T	0.40136	-0.9579	10	0.38643	T	0.18	-1.3886	4.4149	0.11452	0.3062:0.1829:0.5109:0.0	.	51;97	B4DIF9;Q7L622	.;G2E3_HUMAN	Q	97;97;51;127;97;97	ENSP00000206595:R97Q;ENSP00000448745:R97Q;ENSP00000391068:R51Q;ENSP00000451653:R127Q;ENSP00000451147:R97Q;ENSP00000446615:R97Q	ENSP00000206595:R97Q	R	+	2	0	G2E3	30131332	0.955000	0.32602	0.661000	0.29709	0.548000	0.35241	1.321000	0.33678	0.835000	0.34877	0.591000	0.81541	CGA		0.353	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769	
AKAP6	9472	broad.mit.edu	37	14	33015167	33015167	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:33015167A>C	ENST00000280979.4	+	4	1478	c.1308A>C	c.(1306-1308)aaA>aaC	p.K436N	AKAP6_ENST00000557272.1_Missense_Mutation_p.K436N|AKAP6_ENST00000557354.1_Missense_Mutation_p.K436N	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	436					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.K436N(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACAGATCCAAACTTTGCCTGG	0.478																																					p.K436N	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1308C	14						.						196.0	210.0	206.0					14																	33015167		2203	4300	6503	32084918	SO:0001583	missense	9472	exon4			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.1308A>C	14.37:g.33015167A>C	ENSP00000280979:p.Lys436Asn		32084918	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006784	0.54361	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272;ENST00000553547	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.81	3.92	0.45320	.	0.210801	0.42172	D	0.000747	T	0.66567	0.2802	M	0.64997	1.995	0.42160	D	0.991597	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.67799	-0.5577	10	0.87932	D	0	-12.0725	9.8762	0.41205	0.2198:0.0:0.7802:0.0	.	436;436	A7E242;Q13023	.;AKAP6_HUMAN	N	436;436;436;194	ENSP00000280979:K436N;ENSP00000450531:K436N;ENSP00000451247:K436N;ENSP00000451239:K194N	ENSP00000280979:K436N	K	+	3	2	AKAP6	32084918	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.492000	0.35594	0.782000	0.33613	-0.182000	0.12963	AAA		0.478	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
AKAP6	9472	broad.mit.edu	37	14	33243093	33243093	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:33243093G>T	ENST00000280979.4	+	12	3752	c.3582G>T	c.(3580-3582)aaG>aaT	p.K1194N	AKAP6_ENST00000557272.1_Missense_Mutation_p.K1194N	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1194					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.K1194N(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGATGGGAAAGGAATCTGTGA	0.393																																					p.K1194N	Melanoma(49;821 1200 7288 13647 42351)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3582T	14						.						61.0	59.0	60.0					14																	33243093		2203	4300	6503	32312844	SO:0001583	missense	9472	exon12			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3582G>T	14.37:g.33243093G>T	ENSP00000280979:p.Lys1194Asn		32312844	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.606700|2.606700	0.46527|0.46527	.|.	.|.	ENSG00000151320|ENSG00000151320	ENST00000280979;ENST00000557272|ENST00000554740	T;T|.	0.19394|.	3.38;2.15|.	5.1|5.1	-1.66|-1.66	0.08265|0.08265	.|.	0.460397|.	0.24490|.	N|.	0.038080|.	T|T	0.29850|0.29850	0.0746|0.0746	N|N	0.22421|0.22421	0.69|0.69	0.33389|0.33389	D|D	0.575821|0.575821	B|.	0.14012|.	0.009|.	B|.	0.09377|.	0.004|.	T|T	0.39187|0.39187	-0.9626|-0.9626	10|5	0.46703|.	T|.	0.11|.	-6.1623|-6.1623	4.9561|4.9561	0.14041|0.14041	0.5027:0.0:0.2622:0.2351|0.5027:0.0:0.2622:0.2351	.|.	1194|.	Q13023|.	AKAP6_HUMAN|.	N|M	1194|81	ENSP00000280979:K1194N;ENSP00000451247:K1194N|.	ENSP00000280979:K1194N|.	K|R	+|+	3|2	2|0	AKAP6|AKAP6	32312844|32312844	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.830000|0.830000	0.47004|0.47004	0.971000|0.971000	0.29396|0.29396	-0.199000|-0.199000	0.10317|0.10317	-0.964000|-0.964000	0.02622|0.02622	AAG|AGG		0.393	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
BAZ1A	11177	broad.mit.edu	37	14	35331514	35331514	+	Missense_Mutation	SNP	C	C	T	rs527680155		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:35331514C>T	ENST00000382422.2	-	2	455	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R43Q|BAZ1A_ENST00000358716.4_Missense_Mutation_p.R43Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	43	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.R43Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAGAATGGTTCGTTCAAAAAA	0.373																																					p.R43Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G128A	14						.						78.0	80.0	79.0					14																	35331514		2203	4300	6503	34401265	SO:0001583	missense	11177	exon3			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.128G>A	14.37:g.35331514C>T	ENSP00000371859:p.Arg43Gln		34401265	NM_013448	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884422	0.91814	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	D;D;D	0.86497	-2.09;-2.13;-2.13	5.47	4.58	0.56647	WSTF/Acf1/Cbp146 (2);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	D	0.94031	0.7301	10	0.87932	D	0	.	14.4271	0.67222	0.0:0.9288:0.0:0.0712	.	43;43	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	Q	43	ENSP00000351555:R43Q;ENSP00000371859:R43Q;ENSP00000353458:R43Q	ENSP00000351555:R43Q	R	-	2	0	BAZ1A	34401265	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.403000	0.79983	1.448000	0.47680	0.650000	0.86243	CGA		0.373	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
PPP2R3C	55012	broad.mit.edu	37	14	35568526	35568526	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:35568526G>T	ENST00000261475.5	-	7	991	c.638C>A	c.(637-639)tCt>tAt	p.S213Y		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	213					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S213Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		GGAGTAGAAAGATTTTTCCAG	0.299																																					p.S213Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C638A	14						.						56.0	56.0	56.0					14																	35568526		2201	4289	6490	34638277	SO:0001583	missense	55012	exon7			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.638C>A	14.37:g.35568526G>T	ENSP00000261475:p.Ser213Tyr		34638277	NM_017917	B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510287	0.85282	.	.	ENSG00000092020	ENST00000261475;ENST00000554361	T;T	0.35605	1.3;1.3	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.80764	0.994;0.986	T	0.63265	-0.6676	10	0.59425	D	0.04	-7.037	19.224	0.93810	0.0:0.0:1.0:0.0	.	185;213	G3V2K1;Q969Q6	.;P2R3C_HUMAN	Y	213;185	ENSP00000261475:S213Y;ENSP00000450716:S185Y	ENSP00000261475:S213Y	S	-	2	0	PPP2R3C	34638277	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.083000	0.94067	2.614000	0.88457	0.650000	0.86243	TCT		0.299	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917	
RALGAPA1	253959	broad.mit.edu	37	14	36041773	36041773	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:36041773T>G	ENST00000389698.3	-	37	6233	c.5843A>C	c.(5842-5844)aAa>aCa	p.K1948T	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.K1961T|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.K1948T|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.K1995T	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1948	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.K1948T(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TACCTCTGGTTTTTTCATTAT	0.328																																					p.K1948T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5843C	14						.						99.0	99.0	99.0					14																	36041773		2203	4300	6503	35111524	SO:0001583	missense	253959	exon37			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5843A>C	14.37:g.36041773T>G	ENSP00000374348:p.Lys1948Thr		35111524	NM_194301	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.303194|4.303194	0.81136|0.81136	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.95238|.	-3.65;-3.65;-3.65;-3.65;-3.65;-3.65|.	5.15|5.15	5.15|5.15	0.70609|0.70609	Rap/ran-GAP (2);|.	0.097445|.	0.64402|.	D|.	0.000001|.	D|D	0.86875|0.86875	0.6038|0.6038	H|H	0.95224|0.95224	3.64|3.64	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0|.	D;D;D;D|.	0.97110|.	0.997;1.0;0.996;1.0|.	D|D	0.90910|0.90910	0.4775|0.4775	10|5	0.87932|.	D|.	0|.	-17.0489|-17.0489	14.9932|14.9932	0.71406|0.71406	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1995;1961;1948;1948|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	T|H	1948;1948;1948;1995;586;1961;1995|231	ENSP00000374348:K1948T;ENSP00000302647:K1948T;ENSP00000258840:K1995T;ENSP00000451133:K586T;ENSP00000371803:K1961T;ENSP00000451877:K1995T|.	ENSP00000258840:K1995T|.	K|N	-|-	2|1	0|0	RALGAPA1|RALGAPA1	35111524|35111524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.040000|8.040000	0.89188|0.89188	1.947000|1.947000	0.56498|0.56498	0.377000|0.377000	0.23210|0.23210	AAA|AAC		0.328	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022	
SLC25A21	89874	broad.mit.edu	37	14	37153043	37153043	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:37153043T>C	ENST00000331299.5	-	9	1343	c.828A>G	c.(826-828)agA>agG	p.R276R	SLC25A21_ENST00000555449.1_Silent_p.R276R	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	276					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R276R(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		CTGGTCCAAGTCTCATAATCT	0.338																																					p.R276R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A828G	14						.						88.0	89.0	88.0					14																	37153043		2203	4300	6503	36222794	SO:0001819	synonymous_variant	89874	exon9			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.828A>G	14.37:g.37153043T>C			36222794	NM_001171170	A8K0L0|G3V4L5|Q3MJ99	Silent	SNP	ENST00000331299.5	37	CCDS9663.1																																																																																				0.338	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631	
SSTR1	6751	broad.mit.edu	37	14	38679111	38679111	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:38679111G>A	ENST00000267377.2	+	3	1134	c.517G>A	c.(517-519)Gtg>Atg	p.V173M		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	173					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.V173M(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	CCGGCCCACCGTGGCCAAGGT	0.637																																					p.V173M												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G517A	14						.						68.0	68.0	68.0					14																	38679111		2203	4300	6503	37748862	SO:0001583	missense	6751	exon3				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.517G>A	14.37:g.38679111G>A	ENSP00000267377:p.Val173Met		37748862	NM_001049		Missense_Mutation	SNP	ENST00000267377.2	37	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628757	0.67015	.	.	ENSG00000139874	ENST00000267377	T	0.38887	1.11	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.110796	0.38111	N	0.001813	T	0.49355	0.1552	L	0.39467	1.215	0.47214	D	0.999355	P	0.50156	0.932	P	0.54026	0.74	T	0.46652	-0.9176	10	0.48119	T	0.1	.	17.0667	0.86561	0.0:0.0:1.0:0.0	.	173	P30872	SSR1_HUMAN	M	173	ENSP00000267377:V173M	ENSP00000267377:V173M	V	+	1	0	SSTR1	37748862	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.583000	0.53928	2.514000	0.84764	0.561000	0.74099	GTG		0.637	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2		
LRFN5	145581	broad.mit.edu	37	14	42356847	42356847	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:42356847G>T	ENST00000298119.4	+	3	2208	c.1019G>T	c.(1018-1020)gGa>gTa	p.G340V	LRFN5_ENST00000554171.1_Missense_Mutation_p.G340V|LRFN5_ENST00000554120.1_Missense_Mutation_p.G340V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	340	Ig-like.					integral component of membrane (GO:0016021)		p.G340V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TATGATAACGGAACACTTGAC	0.443										HNSCC(30;0.082)																											p.G340V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1019T	14						.						124.0	121.0	122.0					14																	42356847		2203	4300	6503	41426597	SO:0001583	missense	145581	exon3			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1019G>T	14.37:g.42356847G>T	ENSP00000298119:p.Gly340Val		41426597	NM_152447	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382232	0.61845	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.78246	-1.16;-1.16;-1.16	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000035	D	0.92743	0.7693	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95079	0.8211	10	0.87932	D	0	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	340;340	G3V364;Q96NI6	.;LRFN5_HUMAN	V	340	ENSP00000298119:G340V;ENSP00000451897:G340V;ENSP00000451067:G340V	ENSP00000298119:G340V	G	+	2	0	LRFN5	41426597	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.680000	0.91292	0.563000	0.77884	GGA		0.443	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
FSCB	84075	broad.mit.edu	37	14	44974876	44974876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:44974876C>A	ENST00000340446.4	-	1	1606	c.1315G>T	c.(1315-1317)Gaa>Taa	p.E439*	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	439						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E439*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTGAAGTTCTCGAGCCTCT	0.507																																					p.E439X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1315T	14						.						21.0	22.0	21.0					14																	44974876		2158	4281	6439	44044626	SO:0001587	stop_gained	84075	exon1			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1315G>T	14.37:g.44974876C>A	ENSP00000344579:p.Glu439*		44044626	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Nonsense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625137	0.96671	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	.	.	.	4.15	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.9066	4.9475	0.13997	0.0:0.62:0.1753:0.2046	.	.	.	.	X	439	.	ENSP00000344579:E439X	E	-	1	0	FSCB	44044626	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	-1.219000	0.02973	0.470000	0.27294	0.585000	0.79938	GAA		0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
FSCB	84075	broad.mit.edu	37	14	44976157	44976157	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:44976157C>A	ENST00000340446.4	-	1	325	c.34G>T	c.(34-36)Gag>Tag	p.E12*	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	12						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)	p.E12*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCTTTTTCTCTATTACATCA	0.438																																					p.E12X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G34T	14						.						272.0	257.0	262.0					14																	44976157		2203	4300	6503	44045907	SO:0001587	stop_gained	84075	exon1			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.34G>T	14.37:g.44976157C>A	ENSP00000344579:p.Glu12*		44045907	NM_032135	Q5H9U7|Q86YI2|Q9H0J3	Nonsense_Mutation	SNP	ENST00000340446.4	37	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691301	0.88735	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.6499	14.4638	0.67470	0.0:1.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000344579:E12X	E	-	1	0	FSCB	44045907	0.994000	0.37717	0.967000	0.41034	0.024000	0.10985	3.539000	0.53604	2.562000	0.86427	0.555000	0.69702	GAG		0.438	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
C14orf28	122525	broad.mit.edu	37	14	45369824	45369824	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:45369824C>A	ENST00000325192.3	+	2	461	c.186C>A	c.(184-186)ttC>ttA	p.F62L	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.F62L	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	62								p.F62L(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TAGATGGATTCTTGATGTTAT	0.368																																					p.F62L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C186A	14						.						62.0	62.0	62.0					14																	45369824		2203	4300	6503	44439574	SO:0001583	missense	122525	exon2			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"""dopamine receptor interacting protein 1"""						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.186C>A	14.37:g.45369824C>A	ENSP00000326846:p.Phe62Leu		44439574	NM_001017923		Missense_Mutation	SNP	ENST00000325192.3	37	CCDS32069.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966916	0.34659	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.30981	1.51;1.51	5.86	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	N	0.19112	0.55	0.50813	D	0.999896	D	0.56035	0.974	D	0.67725	0.953	T	0.17899	-1.0354	10	0.87932	D	0	.	8.2938	0.31973	0.0:0.7598:0.0:0.2402	.	62	Q4W4Y0	CN028_HUMAN	L	62	ENSP00000326846:F62L;ENSP00000451791:F62L	ENSP00000326846:F62L	F	+	3	2	C14orf28	44439574	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.353000	0.34045	0.939000	0.37446	-0.145000	0.13849	TTC		0.368	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410086.1	NM_001017923	
FANCM	57697	broad.mit.edu	37	14	45645784	45645784	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:45645784C>T	ENST00000267430.5	+	14	3912	c.3827C>T	c.(3826-3828)tCg>tTg	p.S1276L	FANCM_ENST00000542564.2_Missense_Mutation_p.S1250L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1276					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.S1276L(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATTATGTTTCGAATCAAGCA	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.S1276L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3827T	14						.						75.0	76.0	75.0					14																	45645784		2203	4298	6501	44715534	SO:0001583	missense	57697	exon14	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3827C>T	14.37:g.45645784C>T	ENSP00000267430:p.Ser1276Leu		44715534	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	0.061	-1.223488	0.01530	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.17691	2.85;2.85;2.26	6.02	2.24	0.28232	.	2.591430	0.01254	N	0.008978	T	0.16685	0.0401	L	0.47716	1.5	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.21690	-1.0238	10	0.21540	T	0.41	.	4.7654	0.13130	0.0:0.5938:0.1581:0.2481	.	1250;1276	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	L	1276;1250;792	ENSP00000267430:S1276L;ENSP00000442493:S1250L;ENSP00000452033:S792L	ENSP00000267430:S1276L	S	+	2	0	FANCM	44715534	0.000000	0.05858	0.015000	0.15790	0.002000	0.02628	0.134000	0.15932	0.453000	0.26858	-0.127000	0.14921	TCG		0.308	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
MDGA2	161357	broad.mit.edu	37	14	47504288	47504288	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:47504288T>C	ENST00000399232.2	-	8	1902	c.1538A>G	c.(1537-1539)tAc>tGc	p.Y513C	MDGA2_ENST00000426342.1_Missense_Mutation_p.Y284C|MDGA2_ENST00000439988.3_Missense_Mutation_p.Y582C|MDGA2_ENST00000357362.3_Missense_Mutation_p.Y284C	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	513	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.Y284C(2)|p.Y582C(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGACATCTGTACATTCCTGA	0.413																																					p.Y284C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A851G	14						.						148.0	147.0	148.0					14																	47504288		1985	4163	6148	46574038	SO:0001583	missense	161357	exon8			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1538A>G	14.37:g.47504288T>C	ENSP00000382178:p.Tyr513Cys		46574038	NM_182830	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	T	22.3	4.275367	0.80580	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	U	0.000229	D	0.91229	0.7236	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.94202	0.7451	10	0.87932	D	0	.	14.4733	0.67531	0.0:0.0:0.0:1.0	.	284;513	F6W3S7;Q7Z553	.;MDGA2_HUMAN	C	513;284;582;284	ENSP00000400011:Y513C;ENSP00000405456:Y284C;ENSP00000382178:Y582C;ENSP00000349925:Y284C	ENSP00000349925:Y284C	Y	-	2	0	MDGA2	46574038	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.109000	0.64355	0.402000	0.26972	TAC		0.413	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
NEMF	9147	broad.mit.edu	37	14	50295465	50295465	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:50295465C>T	ENST00000298310.5	-	14	1742	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Silent_p.E431E|NEMF_ENST00000545773.1_Silent_p.E389E			O60524	NEMF_HUMAN	nuclear export mediator factor	431					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.E431E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTTCATTTTTCTCAACATTGA	0.333																																					p.E431E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1293A	14						.						77.0	75.0	75.0					14																	50295465		2203	4300	6503	49365215	SO:0001819	synonymous_variant	9147	exon14			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1293G>A	14.37:g.50295465C>T			49365215	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	37	CCDS9694.1																																																																																				0.333	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
NEMF	9147	broad.mit.edu	37	14	50307552	50307552	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:50307552T>G	ENST00000298310.5	-	5	839	c.390A>C	c.(388-390)gtA>gtC	p.V130V	RNU6-539P_ENST00000516665.1_RNA|NEMF_ENST00000546046.1_Silent_p.V130V|AL627171.1_ENST00000358799.1_Intron|NEMF_ENST00000545773.1_Silent_p.V88V			O60524	NEMF_HUMAN	nuclear export mediator factor	130					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.V130V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TATTTAAAATTACGTACTCAT	0.373																																					p.V130V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A390C	14						.						74.0	72.0	73.0					14																	50307552		2203	4300	6503	49377302	SO:0001819	synonymous_variant	9147	exon5			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.390A>C	14.37:g.50307552T>G			49377302	NM_004713	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	37	CCDS9694.1																																																																																				0.373	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713	
CDKL1	8814	broad.mit.edu	37	14	50808899	50808899	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:50808899C>T	ENST00000216378.2	-	5	1052	c.408G>A	c.(406-408)acG>acA	p.T136T	CDKL1_ENST00000395834.1_Silent_p.T136T|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.T136T(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					CGGAATGTTTCGTGATGAGGA	0.323																																					p.T136T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G408A	14						.						139.0	121.0	127.0					14																	50808899		2203	4300	6503	49878649	SO:0001819	synonymous_variant	8814	exon4			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.408G>A	14.37:g.50808899C>T			49878649	NM_004196	Q2M3A4|Q6QUA0|Q8WXQ5	Silent	SNP	ENST00000216378.2	37																																																																																					0.323	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1		
PYGL	5836	broad.mit.edu	37	14	51372218	51372218	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:51372218G>A	ENST00000216392.7	-	20	2768	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	PYGL_ENST00000544180.2_Silent_p.F778F|PYGL_ENST00000532462.1_Intron	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	812					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.F812F(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GGTCACTGGAGAATTTCCCCG	0.418																																					p.F812F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2436T	14						.						169.0	159.0	163.0					14																	51372218		2203	4300	6503	50441968	SO:0001819	synonymous_variant	5836	exon20				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2436C>T	14.37:g.51372218G>A			50441968	NM_002863	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																				0.418	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
C14orf166	51637	broad.mit.edu	37	14	52470942	52470942	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:52470942C>A	ENST00000261700.3	+	7	727	c.562C>A	c.(562-564)Ctt>Att	p.L188I	C14orf166_ENST00000556760.1_Intron	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	188					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA transport (GO:0050658)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core binding (GO:0000993)	p.L188I(1)		endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					CAAACATATTCTTGGTTTTGA	0.308																																					p.L188I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C562A	14						.						102.0	108.0	106.0					14																	52470942		2202	4298	6500	51540692	SO:0001583	missense	51637	exon7			AF151857	CCDS9705.1	14q22.1	2014-05-29			ENSG00000087302	ENSG00000087302			23169	protein-coding gene	gene with protein product	"""RLL motif containing 1"""	610858				10810093, 24608264	Standard	NM_016039		Approved	CGI-99, RLLM1, CLE, CLE7, LCRP369	uc010aod.3	Q9Y224	OTTHUMG00000152332	ENST00000261700.3:c.562C>A	14.37:g.52470942C>A	ENSP00000261700:p.Leu188Ile		51540692	NM_016039		Missense_Mutation	SNP	ENST00000261700.3	37	CCDS9705.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168363	0.38315	.	.	ENSG00000087302	ENST00000261700	.	.	.	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	M	0.67517	2.055	0.80722	D	1	P;P	0.35242	0.492;0.492	B;B	0.35655	0.207;0.207	T	0.59343	-0.7472	9	0.32370	T	0.25	-7.5432	15.01	0.71542	0.0:0.9327:0.0:0.0673	.	188;188	Q9Y224;Q549M8	CN166_HUMAN;.	I	188	.	ENSP00000261700:L188I	L	+	1	0	C14orf166	51540692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.923000	0.48868	2.941000	0.99782	0.655000	0.94253	CTT		0.308	C14orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276887.1	NM_016039	
STYX	6815	broad.mit.edu	37	14	53224043	53224043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:53224043G>T	ENST00000354586.4	+	6	603	c.310G>T	c.(310-312)Gaa>Taa	p.E104*	STYX_ENST00000442123.2_Nonsense_Mutation_p.E104*|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	104	Tyrosine-protein phosphatase.				MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E104*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					CCAGACTAAGGAATTTATTGA	0.259																																					p.E104X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G310T	14						.						80.0	84.0	83.0					14																	53224043		2201	4293	6494	52293793	SO:0001587	stop_gained	6815	exon6				CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.310G>T	14.37:g.53224043G>T	ENSP00000346599:p.Glu104*		52293793	NM_145251	B9EJG0|Q99850	Nonsense_Mutation	SNP	ENST00000354586.4	37	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954192	0.92726	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	.	.	.	X	104	.	ENSP00000346599:E104X	E	+	1	0	STYX	52293793	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	8.527000	0.90594	2.598000	0.87819	0.585000	0.79938	GAA		0.259	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251	
DDHD1	80821	broad.mit.edu	37	14	53529767	53529767	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:53529767G>A	ENST00000323669.5	-	7	1659	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	DDHD1_ENST00000395606.1_Missense_Mutation_p.R561W|DDHD1_ENST00000357758.3_Missense_Mutation_p.R554W	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	554					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R554W(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCATACAGCCGAACTGGATTC	0.393																																					p.R554W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1660T	14						.						158.0	150.0	153.0					14																	53529767		2203	4300	6503	52599517	SO:0001583	missense	80821	exon7			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1660C>T	14.37:g.53529767G>A	ENSP00000327104:p.Arg554Trp		52599517	NM_001160148	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720740	0.48728	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.42900	0.96;0.96;0.96	5.47	0.135	0.14775	.	0.333768	0.31612	N	0.007343	T	0.40719	0.1128	L	0.47716	1.5	0.32755	N	0.505925	D;D;D	0.64830	0.994;0.994;0.986	P;P;P	0.52710	0.707;0.614;0.599	T	0.51220	-0.8733	10	0.59425	D	0.04	-2.1826	5.9826	0.19415	0.0658:0.1017:0.4032:0.4294	.	561;554;554	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	W	554;561;554;425	ENSP00000327104:R554W;ENSP00000378970:R561W;ENSP00000350401:R554W	ENSP00000327104:R554W	R	-	1	2	DDHD1	52599517	1.000000	0.71417	0.578000	0.28575	0.182000	0.23217	2.824000	0.48088	-0.276000	0.09206	0.585000	0.79938	CGG		0.393	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
WDHD1	11169	broad.mit.edu	37	14	55467349	55467349	+	Nonsense_Mutation	SNP	T	T	A	rs200709670		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:55467349T>A	ENST00000360586.3	-	10	879	c.814A>T	c.(814-816)Aaa>Taa	p.K272*	WDHD1_ENST00000421192.1_Nonsense_Mutation_p.K149*|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.K149*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	272					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.K272*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GCATAACCTTTCTCATGTTTC	0.333																																					p.K272X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A814T	14						.						93.0	85.0	88.0					14																	55467349		2203	4300	6503	54537099	SO:0001587	stop_gained	11169	exon10			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.814A>T	14.37:g.55467349T>A	ENSP00000353793:p.Lys272*		54537099	NM_007086	C9JW18|F6W0U7	Nonsense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	T	40	8.469947	0.98825	.	.	ENSG00000198554	ENST00000360586;ENST00000421192	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8359	0.70183	0.0:0.0:0.0:1.0	.	.	.	.	X	272;149	.	ENSP00000353793:K272X	K	-	1	0	WDHD1	54537099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.907000	0.75724	2.101000	0.63845	0.528000	0.53228	AAA		0.333	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
WDHD1	11169	broad.mit.edu	37	14	55475381	55475381	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:55475381C>T	ENST00000360586.3	-	5	463	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	WDHD1_ENST00000421192.1_Missense_Mutation_p.R10Q|WDHD1_ENST00000420358.2_Missense_Mutation_p.R10Q	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	133					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.R133Q(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATCATGTCCTCGAAATGTTTT	0.338																																					p.R133Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398A	14						.						117.0	115.0	116.0					14																	55475381		2203	4300	6503	54545131	SO:0001583	missense	11169	exon5			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.398G>A	14.37:g.55475381C>T	ENSP00000353793:p.Arg133Gln		54545131	NM_007086	C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729170	0.89390	.	.	ENSG00000198554	ENST00000360586;ENST00000421192;ENST00000420358;ENST00000455555	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.15	5.15	0.70609	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	0.67031	0.2850	L	0.35793	1.09	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.64210	-0.6461	10	0.34782	T	0.22	.	18.9984	0.92822	0.0:1.0:0.0:0.0	.	133	O75717	WDHD1_HUMAN	Q	133;10;10;133	ENSP00000353793:R133Q;ENSP00000391049:R10Q;ENSP00000399349:R10Q;ENSP00000413435:R133Q	ENSP00000353793:R133Q	R	-	2	0	WDHD1	54545131	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.185000	0.77714	2.559000	0.86315	0.591000	0.81541	CGA		0.338	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
KTN1	3895	broad.mit.edu	37	14	56139399	56139399	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:56139399G>A	ENST00000395314.3	+	38	3651	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	KTN1_ENST00000395308.1_Missense_Mutation_p.E1172K|KTN1_ENST00000555573.1_Missense_Mutation_p.E200K|KTN1_ENST00000416613.1_Missense_Mutation_p.E1195K|KTN1_ENST00000395311.1_Missense_Mutation_p.E1172K|KTN1_ENST00000413890.2_Missense_Mutation_p.E1172K|KTN1_ENST00000554507.1_Missense_Mutation_p.E461K|KTN1_ENST00000395309.3_Missense_Mutation_p.E1195K|KTN1_ENST00000438792.2_Missense_Mutation_p.E1166K	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1195					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E1195K(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATTAAGAAGCGAAAATAAGGA	0.323			T	RET	papillary thryoid																																p.E1166K			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3496A	14						.						121.0	119.0	120.0					14																	56139399		2202	4300	6502	55209152	SO:0001583	missense	3895	exon37				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3583G>A	14.37:g.56139399G>A	ENSP00000378725:p.Glu1195Lys		55209152	NM_004986	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926823	0.73327	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000553624;ENST00000555573	T;T;T;T;T;T;T;T;T;T	0.77620	1.39;1.3;1.22;1.3;1.39;1.39;1.3;-1.11;1.1;-1.11	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000040	D	0.84866	0.5567	L	0.60455	1.87	0.36053	D	0.84087	D;D;D;D;P;D	0.89917	0.959;0.959;0.959;1.0;0.719;1.0	P;P;P;D;B;D	0.85130	0.614;0.463;0.614;0.995;0.222;0.997	D	0.86389	0.1734	10	0.41790	T	0.15	-18.0399	13.1303	0.59377	0.0738:0.0:0.9262:0.0	.	200;1195;461;1166;1172;1195	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;.;KTN1_HUMAN	K	1172;1195;1166;1195;1172;1172;1195;461;156;200	ENSP00000394992:E1172K;ENSP00000378720:E1195K;ENSP00000391964:E1166K;ENSP00000378725:E1195K;ENSP00000378719:E1172K;ENSP00000378722:E1172K;ENSP00000388807:E1195K;ENSP00000452073:E461K;ENSP00000452445:E156K;ENSP00000451698:E200K	ENSP00000334083:E18K	E	+	1	0	KTN1	55209152	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.721000	0.54941	2.861000	0.98227	0.655000	0.94253	GAA		0.323	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		
PELI2	57161	broad.mit.edu	37	14	56763463	56763463	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:56763463G>A	ENST00000267460.4	+	6	1128	c.842G>A	c.(841-843)cGg>cAg	p.R281Q		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	281					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.R281Q(2)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AACGCCGCCCGGCCTCAGTGT	0.582																																					p.R281Q												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G842A	14						.						43.0	46.0	45.0					14																	56763463		2203	4300	6503	55833216	SO:0001583	missense	57161	exon6			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.842G>A	14.37:g.56763463G>A	ENSP00000267460:p.Arg281Gln		55833216	NM_021255	B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511619	0.96402	.	.	ENSG00000139946	ENST00000267460	T	0.53857	0.6	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.81353	-0.0971	10	0.72032	D	0.01	-28.749	19.2373	0.93866	0.0:0.0:1.0:0.0	.	281	Q9HAT8	PELI2_HUMAN	Q	281	ENSP00000267460:R281Q	ENSP00000267460:R281Q	R	+	2	0	PELI2	55833216	1.000000	0.71417	0.803000	0.32268	0.986000	0.74619	9.855000	0.99526	2.557000	0.86248	0.555000	0.69702	CGG		0.582	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1		
TMEM260	54916	broad.mit.edu	37	14	57082687	57082687	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:57082687G>A	ENST00000261556.6	+	8	1005	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.E295K|TMEM260_ENST00000536419.1_5'UTR	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	295						integral component of membrane (GO:0016021)		p.E295K(2)									TATGAGGACCGAACTCTCATT	0.313																																					p.E295K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G883A	14						.						135.0	139.0	137.0					14																	57082687		2203	4299	6502	56152440	SO:0001583	missense	54916	exon8			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.883G>A	14.37:g.57082687G>A	ENSP00000261556:p.Glu295Lys		56152440	NM_017799	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265191	0.40095	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.46819	1.44;0.86	5.89	4.02	0.46733	.	0.201414	0.51477	D	0.000093	T	0.39600	0.1084	L	0.57536	1.79	0.80722	D	1	B	0.32781	0.384	B	0.19666	0.026	T	0.17198	-1.0377	10	0.14252	T	0.57	-7.4479	14.9773	0.71283	0.0:0.2576:0.7424:0.0	.	295	Q9NX78	CN101_HUMAN	K	295	ENSP00000261556:E295K;ENSP00000441934:E295K	ENSP00000261556:E295K	E	+	1	0	C14orf101	56152440	0.976000	0.34144	0.880000	0.34516	0.620000	0.37586	1.822000	0.39052	0.740000	0.32651	0.585000	0.79938	GAA		0.313	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
EXOC5	10640	broad.mit.edu	37	14	57675371	57675371	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:57675371G>A	ENST00000413566.2	-	18	2442	c.2083C>T	c.(2083-2085)Cgt>Tgt	p.R695C	EXOC5_ENST00000340918.7_Missense_Mutation_p.R630C	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	695					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.R697C(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TAATCAGCACGAAGTTGTACG	0.413																																					p.R695C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2083T	14						.						162.0	159.0	160.0					14																	57675371		1865	4098	5963	56745124	SO:0001583	missense	10640	exon18			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"""SEC10 (S. cerevisiae)-like 1"", ""SEC10-like 1 (S. cerevisiae)"""	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.2083C>T	14.37:g.57675371G>A	ENSP00000389934:p.Arg695Cys		56745124	NM_006544	B2R6C5	Missense_Mutation	SNP	ENST00000413566.2	37	CCDS45111.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286028	0.59867	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	D;D	0.88586	-2.12;-2.4	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	M	0.77486	2.375	0.80722	D	1	B;B	0.22346	0.056;0.068	B;B	0.23852	0.029;0.049	D	0.87814	0.2633	10	0.87932	D	0	-8.9832	19.3724	0.94493	0.0:0.0:1.0:0.0	.	630;695	F8W9B8;O00471	.;EXOC5_HUMAN	C	695;630	ENSP00000389934:R695C;ENSP00000342100:R630C	ENSP00000342100:R630C	R	-	1	0	EXOC5	56745124	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.008000	0.57103	2.576000	0.86940	0.585000	0.79938	CGT		0.413	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412905.1	NM_006544	
ARID4A	5926	broad.mit.edu	37	14	58832908	58832908	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:58832908G>A	ENST00000355431.3	+	22	3856	c.3483G>A	c.(3481-3483)ccG>ccA	p.P1161P	ARID4A_ENST00000395168.3_Intron|ARID4A_ENST00000348476.3_Intron|ARID4A_ENST00000431317.2_Intron	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1161					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1161P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAAACATCCGAATTCATCCC	0.363																																					p.P1161P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3483A	14						.						99.0	106.0	103.0					14																	58832908		2201	4299	6500	57902661	SO:0001819	synonymous_variant	5926	exon22			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.3483G>A	14.37:g.58832908G>A			57902661	NM_002892	Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	CCDS9732.1																																																																																				0.363	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001	
KIAA0586	9786	broad.mit.edu	37	14	58910815	58910815	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:58910815C>T	ENST00000556134.1	+	7	958	c.684C>T	c.(682-684)caC>caT	p.H228H	Y_RNA_ENST00000516389.1_RNA|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.H296H|KIAA0586_ENST00000423743.3_Silent_p.H199H|KIAA0586_ENST00000261244.5_Silent_p.H243H	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	228					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.H296H(1)|p.H243H(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCATGATCACGAAAAGCAAA	0.353																																					p.H243H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C729T	14						.						107.0	97.0	100.0					14																	58910815		1938	4148	6086	57980568	SO:0001819	synonymous_variant	9786	exon6			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.684C>T	14.37:g.58910815C>T			57980568	NM_014749	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	ENST00000556134.1	37	CCDS58321.1																																																																																				0.353	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
KIAA0586	9786	broad.mit.edu	37	14	58924559	58924559	+	Missense_Mutation	SNP	C	C	T	rs369211190		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:58924559C>T	ENST00000556134.1	+	12	1674	c.1400C>T	c.(1399-1401)tCt>tTt	p.S467F	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S535F|KIAA0586_ENST00000423743.3_Missense_Mutation_p.S438F|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S482F	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	467	Required for centrosomal localization. {ECO:0000250}.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.S535F(1)|p.S482F(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAACAAGATCTGTATTGAAA	0.343																																					p.S482F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1445T	14						.	C	PHE/SER	0,3608		0,0,1804	62.0	57.0	59.0		1445	5.9	0.3	14		59	1,8153		0,1,4076	no	missense	KIAA0586	NM_014749.3	155	0,1,5880	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	482/1473	58924559	1,11761	1804	4077	5881	57994312	SO:0001583	missense	9786	exon11			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.1400C>T	14.37:g.58924559C>T	ENSP00000452351:p.Ser467Phe		57994312	NM_014749	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073244	0.76415	0.0	1.23E-4	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000003	T	0.76572	0.4006	M	0.65498	2.005	0.25567	N	0.986939	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999	T	0.69658	-0.5086	10	0.72032	D	0.01	.	20.2576	0.98430	0.0:1.0:0.0:0.0	.	342;342;535;482;467;438	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	F	535;467;438;482;342	ENSP00000346359:S535F;ENSP00000452351:S467F;ENSP00000399427:S438F;ENSP00000261244:S482F	ENSP00000261244:S482F	S	+	2	0	KIAA0586	57994312	1.000000	0.71417	0.292000	0.24919	0.033000	0.12548	5.629000	0.67798	2.783000	0.95769	0.655000	0.94253	TCT		0.343	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
DACT1	51339	broad.mit.edu	37	14	59112605	59112605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:59112605G>T	ENST00000335867.4	+	4	1288	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	DACT1_ENST00000556859.1_Nonsense_Mutation_p.E141*|DACT1_ENST00000541264.2_Nonsense_Mutation_p.E141*|DACT1_ENST00000395153.3_Nonsense_Mutation_p.E385*			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	422					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.E422*(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGGTCGAAAGAATCAAAGGC	0.562																																					p.E385X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1153T	14						.						52.0	57.0	55.0					14																	59112605		2203	4299	6502	58182358	SO:0001587	stop_gained	51339	exon4			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1264G>T	14.37:g.59112605G>T	ENSP00000337439:p.Glu422*		58182358	NM_001079520	A8MYJ2|Q86TY0	Nonsense_Mutation	SNP	ENST00000335867.4	37	CCDS9736.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804601	0.50315	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	.	.	.	5.35	5.35	0.76521	.	0.100542	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-9.6509	19.0563	0.93067	0.0:0.0:1.0:0.0	.	.	.	.	X	141;141;385;422;141	.	ENSP00000337439:E422X	E	+	1	0	DACT1	58182358	1.000000	0.71417	0.879000	0.34478	0.106000	0.19336	8.629000	0.90983	2.519000	0.84933	0.563000	0.77884	GAA		0.562	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651	
SIX6	4990	broad.mit.edu	37	14	60976364	60976364	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:60976364C>T	ENST00000327720.5	+	1	696	c.248C>T	c.(247-249)tCg>tTg	p.S83L		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	83					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.S83L(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		ACCAAGGAGTCGCACGCCAAG	0.577																																					p.S83L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C248T	14						.						45.0	45.0	45.0					14																	60976364		2203	4300	6503	60046117	SO:0001583	missense	4990	exon1			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.248C>T	14.37:g.60976364C>T	ENSP00000328596:p.Ser83Leu		60046117	NM_007374	Q6NT42|Q9P1X8	Missense_Mutation	SNP	ENST00000327720.5	37	CCDS9747.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240710	0.58995	.	.	ENSG00000184302	ENST00000327720	D	0.97480	-4.4	5.52	5.52	0.82312	.	0.061598	0.64402	D	0.000002	D	0.97068	0.9042	M	0.87827	2.91	0.80722	D	1	D	0.53462	0.96	B	0.43623	0.425	D	0.97614	1.0131	10	0.87932	D	0	.	15.7915	0.78367	0.0:0.864:0.1359:0.0	.	83	O95475	SIX6_HUMAN	L	83	ENSP00000328596:S83L	ENSP00000328596:S83L	S	+	2	0	SIX6	60046117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.914000	0.69964	2.873000	0.98535	0.563000	0.77884	TCG		0.577	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276952.2		
TRMT5	57570	broad.mit.edu	37	14	61442541	61442541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:61442541C>A	ENST00000261249.6	-	4	1480	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5									p.E366*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		ATTAACTCTTCTTTGACTGGT	0.403																																					p.E366X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1096T	14						.						93.0	92.0	93.0					14																	61442541		2203	4300	6503	60512294	SO:0001587	stop_gained	57570	exon4			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1096G>T	14.37:g.61442541C>A	ENSP00000261249:p.Glu366*		60512294	NM_020810		Nonsense_Mutation	SNP	ENST00000261249.6	37	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	C	39	7.889459	0.98545	.	.	ENSG00000126814	ENST00000261249	.	.	.	6.17	3.4	0.38934	.	0.366657	0.34460	N	0.003952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-8.9589	6.4808	0.22061	0.1286:0.6776:0.0:0.1939	.	.	.	.	X	366	.	ENSP00000261249:E366X	E	-	1	0	TRMT5	60512294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.080000	0.41586	0.487000	0.27698	0.655000	0.94253	GAA		0.403	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081	
SLC38A6	145389	broad.mit.edu	37	14	61445981	61445981	+	5'Flank	SNP	C	C	T	rs114005374	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:61445981C>T	ENST00000267488.4	+	0	0				RP11-193F5.1_ENST00000553946.1_RNA|SLC38A6_ENST00000456840.2_5'Flank|SLC38A6_ENST00000354886.2_5'Flank|TRMT5_ENST00000261249.6_Missense_Mutation_p.R212Q	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6						amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.R212Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CTGATGATCTCGAAGGTTTAG	0.353													C|||	11	0.00219649	0.0083	0.0	5008	,	,		21341	0.0		0.0	False		,,,				2504	0.0				p.R212Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G635A	14						.	C	GLN/ARG	11,4395	17.9+/-39.9	0,11,2192	99.0	93.0	95.0		635	4.8	1.0	14	dbSNP_132	95	0,8600		0,0,4300	yes	missense	TRMT5	NM_020810.2	43	0,11,6492	TT,TC,CC		0.0,0.2497,0.0846	probably-damaging	212/510	61445981	11,12995	2203	4300	6503	60515734	SO:0001631	upstream_gene_variant	57570	exon2			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335		14.37:g.61445981C>T	Exception_encountered		60515734	NM_020810	C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	CCDS9751.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	35	5.439965	0.96168	0.002497	0.0	ENSG00000126814	ENST00000261249	T	0.23754	1.89	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.91920	3.255	0.58432	D	0.999998	D	0.76494	0.999	D	0.73708	0.981	T	0.65709	-0.6102	10	0.46703	T	0.11	-9.0897	18.1347	0.89614	0.0:1.0:0.0:0.0	.	212	Q32P41	TRM5_HUMAN	Q	212	ENSP00000261249:R212Q	ENSP00000261249:R212Q	R	-	2	0	TRMT5	60515734	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.317000	0.79018	2.489000	0.83994	0.655000	0.94253	CGA		0.353	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1		
SNAPC1	6617	broad.mit.edu	37	14	62244826	62244826	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:62244826G>T	ENST00000216294.4	+	6	834	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	244	SNAPC4-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.E244*(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TGATGGAGAAGAAAAAATGGA	0.338																																					p.E244X	NSCLC(27;223 907 37180 39193 46568)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G730T	14						.						84.0	82.0	83.0					14																	62244826		2203	4300	6503	61314579	SO:0001587	stop_gained	6617	exon6			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.730G>T	14.37:g.62244826G>T	ENSP00000216294:p.Glu244*		61314579	NM_003082		Nonsense_Mutation	SNP	ENST00000216294.4	37	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033285	0.93575	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.64	4.73	0.59995	.	0.536109	0.22572	N	0.058325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-15.0471	12.6696	0.56860	0.0825:0.0:0.9175:0.0	.	.	.	.	X	244	.	ENSP00000216294:E244X	E	+	1	0	SNAPC1	61314579	0.996000	0.38824	1.000000	0.80357	0.525000	0.34531	2.337000	0.43947	2.816000	0.96949	0.563000	0.77884	GAA		0.338	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082	
SNAPC1	6617	broad.mit.edu	37	14	62245586	62245586	+	Silent	SNP	A	A	G	rs147667781		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:62245586A>G	ENST00000216294.4	+	7	887	c.783A>G	c.(781-783)tcA>tcG	p.S261S	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	261	SNAPC4-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.S261S(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		GGGCAGAATCATTAGCGAAAA	0.279													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19148	0.0		0.0	False		,,,				2504	0.0				p.S261S	NSCLC(27;223 907 37180 39193 46568)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A783G	14						.	A		1,4405	2.1+/-5.4	0,1,2202	74.0	79.0	77.0		783	0.0	1.0	14	dbSNP_134	77	0,8594		0,0,4297	no	coding-synonymous	SNAPC1	NM_003082.3		0,1,6499	GG,GA,AA		0.0,0.0227,0.0077		261/369	62245586	1,12999	2203	4297	6500	61315339	SO:0001819	synonymous_variant	6617	exon7			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.783A>G	14.37:g.62245586A>G			61315339	NM_003082		Silent	SNP	ENST00000216294.4	37	CCDS9755.1																																																																																				0.279	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082	
RHOJ	57381	broad.mit.edu	37	14	63757598	63757598	+	Silent	SNP	C	C	T	rs149090717	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:63757598C>T	ENST00000316754.3	+	5	963	c.501C>T	c.(499-501)atC>atT	p.I167I		NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	167					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.I167I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TGTTTAAGATCGGAGCACAGT	0.433																																					p.I167I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501T	14						.	C		1,4405	2.1+/-5.4	0,1,2202	98.0	98.0	98.0		501	-10.9	0.1	14	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RHOJ	NM_020663.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		167/215	63757598	2,13004	2203	4300	6503	62827351	SO:0001819	synonymous_variant	57381	exon5			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.501C>T	14.37:g.63757598C>T			62827351	NM_020663	Q96KC1	Silent	SNP	ENST00000316754.3	37	CCDS9757.1																																																																																				0.433	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3		
SYNE2	23224	broad.mit.edu	37	14	64447443	64447443	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:64447443G>T	ENST00000344113.4	+	15	1853	c.1641G>T	c.(1639-1641)aaG>aaT	p.K547N	SYNE2_ENST00000358025.3_Missense_Mutation_p.K547N|SYNE2_ENST00000554584.1_Missense_Mutation_p.K547N|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	547					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K547N(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATTTATAAGAATTTGGGTA	0.294																																					p.K547N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1641T	14						.						35.0	34.0	34.0					14																	64447443		1788	4052	5840	63517196	SO:0001583	missense	23224	exon15			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1641G>T	14.37:g.64447443G>T	ENSP00000341781:p.Lys547Asn		63517196	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	8.347	0.830131	0.16749	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.60040	0.58;0.58;0.22	5.93	2.09	0.27110	.	0.488846	0.18529	N	0.138549	T	0.44265	0.1285	L	0.41236	1.265	0.20638	N	0.99987	B;B	0.18166	0.015;0.026	B;B	0.18561	0.01;0.022	T	0.34054	-0.9844	10	0.48119	T	0.1	.	6.7731	0.23604	0.2081:0.1265:0.6654:0.0	.	547;547	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	547	ENSP00000350719:K547N;ENSP00000341781:K547N;ENSP00000452570:K547N	ENSP00000261678:K547N	K	+	3	2	SYNE2	63517196	0.635000	0.27199	0.016000	0.15963	0.943000	0.58893	0.746000	0.26275	0.123000	0.18342	0.591000	0.81541	AAG		0.294	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64494488	64494488	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:64494488G>A	ENST00000344113.4	+	43	6903	c.6691G>A	c.(6691-6693)Gaa>Aaa	p.E2231K	SYNE2_ENST00000358025.3_Missense_Mutation_p.E2231K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E2231K|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2231					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.E2231K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCATCTACACGAAAGTCTTCT	0.383																																					p.E2231K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6691A	14						.						59.0	55.0	56.0					14																	64494488		1850	4097	5947	63564241	SO:0001583	missense	23224	exon43			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6691G>A	14.37:g.64494488G>A	ENSP00000341781:p.Glu2231Lys		63564241	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154603	0.57259	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.35789	1.29;1.29;1.29	5.54	3.69	0.42338	.	0.208111	0.33057	N	0.005338	T	0.22975	0.0555	N	0.20986	0.625	0.80722	D	1	P;P	0.50066	0.886;0.931	B;B	0.42062	0.206;0.374	T	0.01786	-1.1274	10	0.25751	T	0.34	.	9.4432	0.38681	0.0757:0.1436:0.7806:0.0	.	2231;2231	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	2231	ENSP00000350719:E2231K;ENSP00000341781:E2231K;ENSP00000452570:E2231K	ENSP00000261678:E2231K	E	+	1	0	SYNE2	63564241	1.000000	0.71417	0.759000	0.31340	0.989000	0.77384	3.431000	0.52814	0.680000	0.31366	0.591000	0.81541	GAA		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64518863	64518863	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:64518863G>T	ENST00000344113.4	+	48	8444	c.8232G>T	c.(8230-8232)aaG>aaT	p.K2744N	SYNE2_ENST00000358025.3_Missense_Mutation_p.K2744N|SYNE2_ENST00000554584.1_Missense_Mutation_p.K2777N|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2744					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K2744N(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATGGGCCAAGAATTTGTTGG	0.398																																					p.K2744N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8232T	14						.						199.0	182.0	187.0					14																	64518863		1899	4116	6015	63588616	SO:0001583	missense	23224	exon48			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8232G>T	14.37:g.64518863G>T	ENSP00000341781:p.Lys2744Asn		63588616	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	0.272	-0.992030	0.02162	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.34072	1.38;1.38;1.38	5.34	-1.9	0.07665	.	0.743845	0.12241	N	0.486509	T	0.18841	0.0452	N	0.19112	0.55	0.19775	N	0.999956	B;B	0.12013	0.003;0.005	B;B	0.16289	0.007;0.015	T	0.20472	-1.0274	10	0.28530	T	0.3	.	6.5321	0.22332	0.524:0.0:0.3478:0.1282	.	2744;2744	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	2744;2744;2777;2777	ENSP00000350719:K2744N;ENSP00000341781:K2744N;ENSP00000452570:K2777N	ENSP00000261678:K2777N	K	+	3	2	SYNE2	63588616	0.995000	0.38212	0.080000	0.20451	0.053000	0.15095	0.684000	0.25364	-0.208000	0.10171	0.467000	0.42956	AAG		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SYNE2	23224	broad.mit.edu	37	14	64519940	64519940	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:64519940G>T	ENST00000344113.4	+	48	9521	c.9309G>T	c.(9307-9309)aaG>aaT	p.K3103N	SYNE2_ENST00000358025.3_Missense_Mutation_p.K3103N|SYNE2_ENST00000554584.1_Missense_Mutation_p.K3136N|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3103					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K3103N(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGATAATAAAGAAATTAAATG	0.333																																					p.K3103N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G9309T	14						.						31.0	31.0	31.0					14																	64519940		1807	4064	5871	63589693	SO:0001583	missense	23224	exon48			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9309G>T	14.37:g.64519940G>T	ENSP00000341781:p.Lys3103Asn		63589693	NM_015180	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	6.485	0.457708	0.12342	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57107	0.78;0.78;0.42	5.33	2.21	0.28008	.	0.734274	0.12466	N	0.466428	T	0.31918	0.0812	N	0.17082	0.46	0.09310	N	0.999997	B;B	0.16396	0.01;0.017	B;B	0.12156	0.003;0.007	T	0.20974	-1.0259	10	0.56958	D	0.05	.	3.687	0.08332	0.2942:0.0:0.4478:0.2579	.	3103;3103	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	3103;3103;3136;3136	ENSP00000350719:K3103N;ENSP00000341781:K3103N;ENSP00000452570:K3136N	ENSP00000261678:K3136N	K	+	3	2	SYNE2	63589693	0.997000	0.39634	0.378000	0.26068	0.293000	0.27360	1.303000	0.33470	0.636000	0.30508	0.462000	0.41574	AAG		0.333	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
ESR2	2100	broad.mit.edu	37	14	64746774	64746774	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:64746774C>T	ENST00000341099.4	-	3	877	c.460G>A	c.(460-462)Gat>Aat	p.D154N	ESR2_ENST00000555483.1_Intron|ESR2_ENST00000554572.1_Missense_Mutation_p.D154N|ESR2_ENST00000557772.1_Missense_Mutation_p.D154N|ESR2_ENST00000357782.2_Missense_Mutation_p.D154N|ESR2_ENST00000358599.5_Missense_Mutation_p.D154N|ESR2_ENST00000553796.1_Missense_Mutation_p.D154N|ESR2_ENST00000267525.6_Missense_Mutation_p.D154N|ESR2_ENST00000555278.1_Missense_Mutation_p.D154N|ESR2_ENST00000542956.1_Missense_Mutation_p.D154N|ESR2_ENST00000353772.3_Missense_Mutation_p.D154N	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	154					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GATGCGTAATCGCTGCAGACA	0.473																																					p.D154N												.	.	0			c.G460A	14						.						253.0	235.0	241.0					14																	64746774		2203	4300	6503	63816527	SO:0001583	missense	2100	exon3			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.460G>A	14.37:g.64746774C>T	ENSP00000343925:p.Asp154Asn		63816527	NM_001437	A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575962	0.86645	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.56	5.56	0.83823	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99064	0.9679	M	0.85777	2.775	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.99793	1.1032	10	0.87932	D	0	.	19.5206	0.95183	0.0:1.0:0.0:0.0	.	154;154;154;154;154	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	N	154	ENSP00000452485:D154N;ENSP00000441792:D154N;ENSP00000450699:D154N;ENSP00000335551:D154N;ENSP00000351412:D154N;ENSP00000450488:D154N;ENSP00000452426:D154N;ENSP00000350427:D154N;ENSP00000451582:D154N;ENSP00000343925:D154N;ENSP00000267525:D154N	ENSP00000267525:D154N	D	-	1	0	ESR2	63816527	1.000000	0.71417	0.889000	0.34880	0.226000	0.24999	7.647000	0.83462	2.623000	0.88846	0.557000	0.71058	GAT		0.473	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1		
AKAP5	9495	broad.mit.edu	37	14	64935947	64935947	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:64935947G>T	ENST00000394718.4	+	2	1213	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	AKAP5_ENST00000320636.5_Nonsense_Mutation_p.E279*|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	279					energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E279*(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AATTGTGGAAGAAGCCAGTAA	0.413																																					p.E279X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G835T	14						.						73.0	76.0	75.0					14																	64935947		2203	4300	6503	64005700	SO:0001587	stop_gained	9495	exon2			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.835G>T	14.37:g.64935947G>T	ENSP00000378207:p.Glu279*		64005700	NM_004857	A2RRB8	Nonsense_Mutation	SNP	ENST00000394718.4	37	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306243	0.95629	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	.	.	.	5.9	5.01	0.66863	.	0.426594	0.22125	N	0.064266	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-2.0645	12.8171	0.57671	0.0754:0.0:0.9246:0.0	.	.	.	.	X	279	.	ENSP00000315615:E279X	E	+	1	0	AKAP5	64005700	0.883000	0.30277	0.724000	0.30704	0.166000	0.22503	2.392000	0.44433	1.500000	0.48636	0.650000	0.86243	GAA		0.413	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3		
AKAP5	9495	broad.mit.edu	37	14	64936052	64936052	+	Nonsense_Mutation	SNP	G	G	T	rs34433837	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:64936052G>T	ENST00000394718.4	+	2	1318	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	AKAP5_ENST00000320636.5_Nonsense_Mutation_p.E314*|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	314			E -> K (in dbSNP:rs34433837).		energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.E314*(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		ATTGAGCCAAGAATCAGATTT	0.348																																					p.E314X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G940T	14						.						71.0	76.0	74.0					14																	64936052		2203	4300	6503	64005805	SO:0001587	stop_gained	9495	exon2			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"""A-kinase anchor proteins"""	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.940G>T	14.37:g.64936052G>T	ENSP00000378207:p.Glu314*		64005805	NM_004857	A2RRB8	Nonsense_Mutation	SNP	ENST00000394718.4	37	CCDS9764.1	.	.	.	.	.	.	.	.	.	.	G	30	5.050656	0.93740	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	.	.	.	5.61	3.75	0.43078	.	0.709634	0.13209	N	0.405290	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-2.905	3.4716	0.07569	0.1557:0.1343:0.5716:0.1384	.	.	.	.	X	314	.	ENSP00000315615:E314X	E	+	1	0	AKAP5	64005805	0.009000	0.17119	0.030000	0.17652	0.046000	0.14306	0.878000	0.28126	1.503000	0.48686	0.655000	0.94253	GAA		0.348	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268070.3		
SPTB	6710	broad.mit.edu	37	14	65252559	65252559	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:65252559G>T	ENST00000389721.5	-	16	3704	c.3672C>A	c.(3670-3672)gtC>gtA	p.V1224V	SPTB_ENST00000542895.1_Silent_p.V1224V|SPTB_ENST00000389722.3_Silent_p.V1224V|SPTB_ENST00000556626.1_Silent_p.V1224V|SPTB_ENST00000389720.3_Silent_p.V1224V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1224					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGGACTCAAGACCTTATCCC	0.532																																					p.V1224V												.	.	0			c.C3672A	14						.						195.0	199.0	198.0					14																	65252559		2203	4300	6503	64322312	SO:0001819	synonymous_variant	6710	exon16				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3672C>A	14.37:g.65252559G>T			64322312	NM_001024858	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.532	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
PLEK2	26499	broad.mit.edu	37	14	67859936	67859936	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:67859936C>T	ENST00000216446.4	-	4	552	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	138					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.D138N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GTGTTGCTATCGTGCATCTTG	0.572																																					p.D138N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G412A	14						.						248.0	218.0	229.0					14																	67859936		2203	4300	6503	66929689	SO:0001583	missense	26499	exon4			AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.412G>A	14.37:g.67859936C>T	ENSP00000216446:p.Asp138Asn		66929689	NM_016445	Q96JT0	Missense_Mutation	SNP	ENST00000216446.4	37	CCDS9782.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501162	0.44455	.	.	ENSG00000100558	ENST00000216446;ENST00000554395	T;T	0.16897	3.1;2.31	5.91	4.12	0.48240	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.043442	0.85682	N	0.000000	T	0.24967	0.0606	N	0.24115	0.695	0.49915	D	0.999839	D	0.76494	0.999	D	0.77557	0.99	T	0.01524	-1.1333	10	0.41790	T	0.15	-2.5918	10.5322	0.44983	0.0:0.8514:0.0:0.1486	.	138	Q9NYT0	PLEK2_HUMAN	N	138;72	ENSP00000216446:D138N;ENSP00000450892:D72N	ENSP00000216446:D138N	D	-	1	0	PLEK2	66929689	0.998000	0.40836	0.699000	0.30290	0.404000	0.30871	4.056000	0.57448	0.858000	0.35431	-0.448000	0.05591	GAT		0.572	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2		
ARG2	384	broad.mit.edu	37	14	68108926	68108926	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:68108926G>T	ENST00000261783.3	+	3	388	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	70					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.D70Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	AGACTTTGGAGATTTGAGTTT	0.463																																					p.D70Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G208T	14						.						71.0	68.0	69.0					14																	68108926		2203	4300	6503	67178679	SO:0001583	missense	384	exon3			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.208G>T	14.37:g.68108926G>T	ENSP00000261783:p.Asp70Tyr		67178679	NM_001172	B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	37	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928915	0.92389	.	.	ENSG00000081181	ENST00000261783	T	0.56275	0.47	5.43	5.43	0.79202	Ureohydrolase domain (1);	0.043686	0.85682	D	0.000000	D	0.82870	0.5131	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88117	0.2829	10	0.87932	D	0	.	19.4288	0.94756	0.0:0.0:1.0:0.0	.	70	P78540	ARGI2_HUMAN	Y	70	ENSP00000261783:D70Y	ENSP00000261783:D70Y	D	+	1	0	ARG2	67178679	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.657000	0.98554	2.830000	0.97506	0.585000	0.79938	GAT		0.463	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172	
ZFYVE26	23503	broad.mit.edu	37	14	68249764	68249764	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:68249764A>C	ENST00000347230.4	-	21	4243	c.4105T>G	c.(4105-4107)Ttc>Gtc	p.F1369V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.F1369V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1369					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCAGGAGGAAGGCCTCAAAC	0.607																																					p.F1369V												.	.	0			c.T4105G	14						.						48.0	56.0	53.0					14																	68249764		2203	4300	6503	67319517	SO:0001583	missense	23503	exon21			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4105T>G	14.37:g.68249764A>C	ENSP00000251119:p.Phe1369Val		67319517	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993540	0.35131	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.30182	1.7;1.54	5.76	1.96	0.26148	.	0.529424	0.20722	N	0.086884	T	0.23249	0.0562	L	0.29908	0.895	0.28888	N	0.89401	B;B	0.31548	0.328;0.02	B;B	0.31101	0.124;0.024	T	0.09885	-1.0654	10	0.62326	D	0.03	-0.2006	13.3858	0.60795	0.5816:0.4184:0.0:0.0	.	1369;1369	G3V2D8;Q68DK2	.;ZFY26_HUMAN	V	1369;1348;1369	ENSP00000251119:F1369V;ENSP00000450603:F1369V	ENSP00000251119:F1369V	F	-	1	0	ZFYVE26	67319517	0.987000	0.35691	0.880000	0.34516	0.461000	0.32589	2.490000	0.45294	0.081000	0.16988	0.533000	0.62120	TTC		0.607	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
ZFYVE26	23503	broad.mit.edu	37	14	68268861	68268861	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:68268861T>C	ENST00000347230.4	-	10	1712	c.1574A>G	c.(1573-1575)aAa>aGa	p.K525R	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.K525R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	525					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.K525R(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGGCTGTCTTTGCAGTCCTG	0.547																																					p.K525R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1574G	14						.						137.0	124.0	128.0					14																	68268861		2203	4300	6503	67338614	SO:0001583	missense	23503	exon10			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.1574A>G	14.37:g.68268861T>C	ENSP00000251119:p.Lys525Arg		67338614	NM_015346	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	T	1.827	-0.470761	0.04445	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27402	1.81;1.67	5.97	-4.29	0.03721	.	0.706038	0.14318	N	0.327216	T	0.11580	0.0282	N	0.17474	0.49	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.09377	0.004;0.004;0.0	T	0.31752	-0.9932	10	0.11182	T	0.66	-1.7845	4.1444	0.10209	0.1573:0.4458:0.0899:0.3069	.	525;525;525	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	R	525;504;525	ENSP00000251119:K525R;ENSP00000450603:K525R	ENSP00000251119:K525R	K	-	2	0	ZFYVE26	67338614	0.001000	0.12720	0.066000	0.19879	0.136000	0.21042	-0.355000	0.07671	-0.564000	0.06070	0.533000	0.62120	AAA		0.547	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
EXD2	55218	broad.mit.edu	37	14	69695575	69695575	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:69695575A>C	ENST00000409018.3	+	3	504	c.376A>C	c.(376-378)Atg>Ctg	p.M126L	EXD2_ENST00000409014.1_Start_Codon_SNP_p.M1L|EXD2_ENST00000409675.1_Start_Codon_SNP_p.M1L|EXD2_ENST00000409949.1_Start_Codon_SNP_p.M1L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409242.1_Start_Codon_SNP_p.M1L|EXD2_ENST00000449989.1_Start_Codon_SNP_p.M1L|EXD2_ENST00000312994.5_Missense_Mutation_p.M126L	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	126							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.M1L(1)|p.M126L(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						ACTTCTACAAATGGCCTCCCC	0.493																																					p.M126L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A376C	14						.						65.0	61.0	62.0					14																	69695575		2203	4300	6503	68765328	SO:0001583	missense	55218	exon3			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.376A>C	14.37:g.69695575A>C	ENSP00000387331:p.Met126Leu		68765328	NM_001193363	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	A	5.401	0.259138	0.10239	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.70869	0.64;0.05;0.05;0.05;0.05;0.64;-0.52;0.05	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.036243	0.85682	D	0.000000	T	0.47911	0.1471	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.46428	-0.9192	9	0.02654	T	1	-23.9199	12.3758	0.55279	0.8595:0.1405:0.0:0.0	.	126;1	G5E947;Q9NVH0	.;EXD2_HUMAN	L	126;126;1;1;1;1;126;1;1	ENSP00000387331:M126L;ENSP00000386915:M1L;ENSP00000386762:M1L;ENSP00000386632:M1L;ENSP00000386839:M1L;ENSP00000313140:M126L;ENSP00000409089:M1L;ENSP00000392177:M1L	ENSP00000193422:M126L	M	+	1	0	EXD2	68765328	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.822000	0.48073	2.148000	0.66965	0.460000	0.39030	ATG		0.493	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1		
SLC8A3	6547	broad.mit.edu	37	14	70633796	70633796	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:70633796G>A	ENST00000381269.2	-	2	2097	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SLC8A3_ENST00000357887.3_Silent_p.F448F|SLC8A3_ENST00000528359.1_Silent_p.F448F|SLC8A3_ENST00000356921.2_Silent_p.F448F|SLC8A3_ENST00000534137.1_Silent_p.F448F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	448	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.F448F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGCCCTCTGTGAACTCATAGT	0.498																																					p.F448F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1344T	14						.						152.0	145.0	147.0					14																	70633796		2203	4300	6503	69703549	SO:0001819	synonymous_variant	6547	exon2			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1344C>T	14.37:g.70633796G>A			69703549	NM_033262	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	CCDS35498.1																																																																																				0.498	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		
ADAM21	8747	broad.mit.edu	37	14	70925023	70925023	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:70925023G>T	ENST00000603540.1	+	2	1065	c.807G>T	c.(805-807)atG>atT	p.M269I	ADAM21_ENST00000267499.3_Missense_Mutation_p.M269I|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	269	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M269I(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTTTCCCAATGACAAGCATAG	0.353																																					p.M269I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G807T	14						.						69.0	68.0	68.0					14																	70925023		2203	4300	6503	69994776	SO:0001583	missense	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.807G>T	14.37:g.70925023G>T	ENSP00000474385:p.Met269Ile		69994776	NM_003813	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.980660	0.00448	.	.	ENSG00000139985	ENST00000267499	T	0.59638	0.25	4.1	2.03	0.26663	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.389018	0.21299	N	0.076827	T	0.16981	0.0408	N	0.00595	-1.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25363	-1.0134	10	0.09084	T	0.74	.	3.5611	0.07882	0.2427:0.0:0.5118:0.2455	.	269	Q9UKJ8	ADA21_HUMAN	I	269	ENSP00000267499:M269I	ENSP00000267499:M269I	M	+	3	0	ADAM21	69994776	0.000000	0.05858	0.156000	0.22583	0.474000	0.32979	-0.088000	0.11198	0.410000	0.25675	-0.262000	0.10625	ATG		0.353	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
ADAM21	8747	broad.mit.edu	37	14	70925121	70925121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:70925121C>A	ENST00000603540.1	+	2	1163	c.905C>A	c.(904-906)tCa>tAa	p.S302*	ADAM21_ENST00000267499.3_Nonsense_Mutation_p.S302*|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	302	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S302*(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ATAAAAAATTCACTTATAAGT	0.383																																					p.S302X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C905A	14						.						103.0	104.0	104.0					14																	70925121		2203	4300	6503	69994874	SO:0001587	stop_gained	8747	exon1			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.905C>A	14.37:g.70925121C>A	ENSP00000474385:p.Ser302*		69994874	NM_003813	O43507|Q2VPC6|Q32MR0	Nonsense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132041	0.56828	.	.	ENSG00000139985	ENST00000267499	.	.	.	4.36	3.39	0.38822	.	1.727610	0.03708	N	0.249830	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	7.2671	0.26235	0.1604:0.5888:0.2508:0.0	.	.	.	.	X	302	.	ENSP00000267499:S302X	S	+	2	0	ADAM21	69994874	0.001000	0.12720	0.325000	0.25375	0.705000	0.40729	0.582000	0.23834	2.421000	0.82119	0.557000	0.71058	TCA		0.383	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
ADAM20	8748	broad.mit.edu	37	14	70990284	70990284	+	Silent	SNP	C	C	T	rs138880063		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:70990284C>T	ENST00000256389.3	-	2	1585	c.1341G>A	c.(1339-1341)ccG>ccA	p.P447P	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	397	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				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)	p.P447P(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GATATGGAGGCGGTTGAATAC	0.423																																					p.P447P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1341A	14						.	C		0,4406		0,0,2203	172.0	117.0	136.0		1341	-1.6	0.0	14	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAM20	NM_003814.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		447/777	70990284	1,13005	2203	4300	6503	70060037	SO:0001819	synonymous_variant	8748	exon2			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1341G>A	14.37:g.70990284C>T			70060037	NM_003814	Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	CCDS32111.1																																																																																				0.423	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2		
SIPA1L1	26037	broad.mit.edu	37	14	72152162	72152162	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:72152162G>A	ENST00000555818.1	+	10	3536	c.3188G>A	c.(3187-3189)cGa>cAa	p.R1063Q	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1063Q|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R538Q|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1063Q	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1063					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R1063Q(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCCCTTCCGAAATAATAAC	0.507																																					p.R1063Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3188A	14						.						98.0	96.0	97.0					14																	72152162		2203	4300	6503	71221915	SO:0001583	missense	26037	exon10			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3188G>A	14.37:g.72152162G>A	ENSP00000450832:p.Arg1063Gln		71221915	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672643	0.96754	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	D;D;D;D	0.89123	-1.66;-1.64;-1.66;-2.47	5.48	5.48	0.80851	.	0.057524	0.64402	D	0.000001	D	0.93848	0.8032	M	0.72118	2.19	0.80722	D	1	P;B;D;P;D	0.69078	0.892;0.382;0.985;0.943;0.997	P;B;P;P;D	0.67725	0.601;0.043;0.768;0.565;0.953	D	0.92984	0.6409	10	0.45353	T	0.12	-9.3747	19.7112	0.96096	0.0:0.0:1.0:0.0	.	538;1063;538;1063;1063	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	Q	1063;1063;1063;538	ENSP00000370630:R1063Q;ENSP00000450832:R1063Q;ENSP00000351352:R1063Q;ENSP00000440682:R538Q	ENSP00000351352:R1063Q	R	+	2	0	SIPA1L1	71221915	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.742000	0.91588	2.726000	0.93360	0.561000	0.74099	CGA		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
PSEN1	5663	broad.mit.edu	37	14	73659540	73659540	+	Missense_Mutation	SNP	C	C	T	rs63750526		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:73659540C>T	ENST00000324501.5	+	7	1009	c.737C>T	c.(736-738)gCg>gTg	p.A246V	PSEN1_ENST00000406768.1_Missense_Mutation_p.A154V|PSEN1_ENST00000557511.1_Missense_Mutation_p.A246V|PSEN1_ENST00000394164.1_Missense_Mutation_p.A242V|PSEN1_ENST00000344094.3_Missense_Mutation_p.A246V|PSEN1_ENST00000357710.4_Missense_Mutation_p.A242V|PSEN1_ENST00000261970.3_Missense_Mutation_p.A246V	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	246			A -> E (in AD3). {ECO:0000269|PubMed:7596406}.		activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)	p.A246V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		GAATGGACTGCGTGGCTCATC	0.453																																					p.A246V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C737T	14	GRCh37	CM951075	PSEN1	M	rs63750526	.						181.0	164.0	170.0					14																	73659540		2203	4300	6503	72729293	SO:0001583	missense	5663	exon7			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.737C>T	14.37:g.73659540C>T	ENSP00000326366:p.Ala246Val		72729293	NM_000021	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591736	0.66219	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99507	-6.04;-6.04;-6.04;-6.04;-6.04;-6.04;-6.04	5.69	5.69	0.88448	.	0.163986	0.53938	D	0.000057	D	0.98865	0.9616	L	0.48218	1.51	0.80722	D	1	P;D	0.59357	0.727;0.985	B;P	0.51615	0.126;0.675	D	0.99505	1.0954	10	0.25751	T	0.34	-12.1143	19.824	0.96608	0.0:1.0:0.0:0.0	.	242;246	P49768-2;P49768	.;PSN1_HUMAN	V	246;242;246;246;242;246;154	ENSP00000326366:A246V;ENSP00000350342:A242V;ENSP00000261970:A246V;ENSP00000339523:A246V;ENSP00000377719:A242V;ENSP00000451429:A246V;ENSP00000385948:A154V	ENSP00000261970:A246V	A	+	2	0	PSEN1	72729293	1.000000	0.71417	0.458000	0.27068	0.995000	0.86356	4.765000	0.62271	2.699000	0.92147	0.591000	0.81541	GCG		0.453	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2		
ZNF410	57862	broad.mit.edu	37	14	74364943	74364943	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:74364943G>T	ENST00000555044.1	+	5	752	c.558G>T	c.(556-558)aaG>aaT	p.K186N	RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000540593.1_Missense_Mutation_p.K113N|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.K203N|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.K133N|ZNF410_ENST00000324593.6_Missense_Mutation_p.K186N|ZNF410_ENST00000556797.1_Missense_Mutation_p.K133N	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K186N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AACTGGCAAAGAATGCAAAAA	0.493																																					p.K186N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G558T	14						.						93.0	80.0	84.0					14																	74364943		2203	4300	6503	73434696	SO:0001583	missense	57862	exon5			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.558G>T	14.37:g.74364943G>T	ENSP00000451763:p.Lys186Asn		73434696	NM_021188	B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739326	0.69304	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556797	T;T;T;T;T	0.10099	2.99;3.01;2.96;3.0;2.91	5.05	4.16	0.48862	.	0.000000	0.42053	D	0.000773	T	0.18676	0.0448	L	0.27053	0.805	0.45806	D	0.998688	D;D;B;B	0.76494	0.999;0.994;0.241;0.155	D;D;B;B	0.80764	0.994;0.985;0.139;0.066	T	0.01541	-1.1329	10	0.72032	D	0.01	.	10.0426	0.42166	0.1532:0.0:0.8468:0.0	.	113;203;186;186	B4DR78;B4DDV5;Q86VK4-3;Q86VK4	.;.;.;ZN410_HUMAN	N	113;186;175;203;186;133;133	ENSP00000442228:K113N;ENSP00000323293:K186N;ENSP00000407130:K203N;ENSP00000451763:K186N;ENSP00000334170:K133N	ENSP00000323293:K186N	K	+	3	2	ZNF410	73434696	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.832000	0.48152	1.367000	0.46095	-0.137000	0.14449	AAG		0.493	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188	
COQ6	51004	broad.mit.edu	37	14	74424903	74424903	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:74424903C>T	ENST00000334571.2	+	5	575	c.535C>T	c.(535-537)Cca>Tca	p.P179S	COQ6_ENST00000238709.4_Missense_Mutation_p.P104S|COQ6_ENST00000554920.1_Intron|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000394026.4_Missense_Mutation_p.P154S	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	179					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|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)	p.P179S(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CTGGCCTTGTCCATTTCCTAT	0.478																																					p.P179S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C535T	14						.						130.0	117.0	121.0					14																	74424903		2203	4300	6503	73494656	SO:0001583	missense	51004	exon5			AF132944	CCDS9823.1, CCDS9824.1, CCDS9824.2	14q24.1	2013-05-01	2013-05-01		ENSG00000119723	ENSG00000119723			20233	protein-coding gene	gene with protein product		614647	"""coenzyme Q6 homolog (yeast)"", ""coenzyme Q6 homolog, monooxygenase (yeast)"", ""coenzyme Q6 homolog, monooxygenase (S. cerevisiae)"""			21540551	Standard	NM_182476		Approved	CGI-10	uc001xph.3	Q9Y2Z9	OTTHUMG00000171260	ENST00000334571.2:c.535C>T	14.37:g.74424903C>T	ENSP00000333946:p.Pro179Ser		73494656	NM_182476	B7Z3K8|Q53GG6|Q86U30|Q96CA1|Q96CK2	Missense_Mutation	SNP	ENST00000334571.2	37	CCDS9823.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000789	0.35320	.	.	ENSG00000119723	ENST00000394026;ENST00000555376;ENST00000238709;ENST00000553462;ENST00000334571;ENST00000556300;ENST00000554153;ENST00000557584;ENST00000557205;ENST00000554320	T;T;T;T	0.57107	0.9;0.87;0.93;0.42	5.53	1.67	0.24075	.	0.150366	0.64402	N	0.000009	T	0.25901	0.0631	N	0.16478	0.41	0.40219	D	0.977717	B;B;P;B;B;B;B;B	0.37731	0.013;0.001;0.607;0.0;0.0;0.001;0.001;0.0	B;B;B;B;B;B;B;B	0.30782	0.011;0.004;0.12;0.001;0.0;0.006;0.003;0.002	T	0.04678	-1.0934	10	0.22706	T	0.39	0.0941	5.261	0.15573	0.1208:0.6346:0.1164:0.1282	.	124;179;124;154;179;104;104;104	B7Z8E9;B7Z357;B7Z262;B7Z3K8;Q9Y2Z9;G3V3A1;G3XA86;Q86U30	.;.;.;.;COQ6_HUMAN;.;.;.	S	154;104;104;104;179;179;124;124;124;104	ENSP00000377594:P154S;ENSP00000238709:P104S;ENSP00000333946:P179S;ENSP00000451123:P104S	ENSP00000238709:P104S	P	+	1	0	COQ6	73494656	0.021000	0.18746	0.130000	0.21974	0.992000	0.81027	0.729000	0.26028	0.133000	0.18654	0.655000	0.94253	CCA		0.478	COQ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412616.1		
VSX2	338917	broad.mit.edu	37	14	74726324	74726324	+	Missense_Mutation	SNP	G	G	A	rs121912543		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:74726324G>A	ENST00000261980.2	+	4	689	c.599G>A	c.(598-600)cGa>cAa	p.R200Q		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	200			R -> P (in MCOPCTI; loss of DNA binding capacity). {ECO:0000269|PubMed:10932181}.|R -> Q (in MCOPCTI; loss of DNA binding capacity). {ECO:0000269|PubMed:10932181}.		cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CAGAACCGTCGAGCCAAGTGG	0.637																																					p.R200Q												.	.	0			c.G599A	14	GRCh37	CM001965|CM001966	VSX2	M	rs121912543	.						104.0	88.0	94.0					14																	74726324		2203	4300	6503	73796077	SO:0001583	missense	338917	exon4			AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.599G>A	14.37:g.74726324G>A	ENSP00000261980:p.Arg200Gln		73796077	NM_182894	A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579640	0.96565	.	.	ENSG00000119614	ENST00000261980	D	0.99143	-5.48	5.04	5.04	0.67666	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.99851	4.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96848	0.9623	10	0.87932	D	0	.	18.5918	0.91215	0.0:0.0:1.0:0.0	.	200	P58304	VSX2_HUMAN	Q	200	ENSP00000261980:R200Q	ENSP00000261980:R200Q	R	+	2	0	VSX2	73796077	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.578000	0.98200	2.630000	0.89119	0.655000	0.94253	CGA		0.637	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894	
VRTN	55237	broad.mit.edu	37	14	74824067	74824067	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:74824067G>A	ENST00000256362.4	+	2	822	c.581G>A	c.(580-582)cGc>cAc	p.R194H		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	194					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)	p.R194H(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TACCCCATGCGCAACCTCAAG	0.622																																					p.R194H												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G581A	14						.						135.0	120.0	125.0					14																	74824067		2203	4300	6503	73893820	SO:0001583	missense	55237	exon2			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.581G>A	14.37:g.74824067G>A	ENSP00000256362:p.Arg194His		73893820	NM_018228	Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274924	0.40194	.	.	ENSG00000133980	ENST00000256362	T	0.38240	1.15	5.05	5.05	0.67936	.	0.298816	0.33180	N	0.005183	T	0.29620	0.0739	N	0.14661	0.345	0.29536	N	0.85241	D	0.61697	0.99	P	0.49502	0.613	T	0.07214	-1.0784	10	0.16420	T	0.52	-7.2851	16.7434	0.85465	0.0:0.0:1.0:0.0	.	194	Q9H8Y1	VRTN_HUMAN	H	194	ENSP00000256362:R194H	ENSP00000256362:R194H	R	+	2	0	VRTN	73893820	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.111000	0.64628	2.628000	0.89032	0.561000	0.74099	CGC		0.622	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228	
ZC2HC1C	79696	broad.mit.edu	37	14	75538313	75538313	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:75538313C>T	ENST00000524913.1	+	2	1526	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ACYP1_ENST00000555463.1_5'Flank|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.S346L|ZC2HC1C_ENST00000439583.2_Intron|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	ZC21C_HUMAN	zinc finger, C2HC-type containing 1C	346							metal ion binding (GO:0046872)	p.S346L(1)									TCAGAGCCATCGGTGGAGAAA	0.507																																					p.S346L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1037T	14						.						52.0	51.0	51.0					14																	75538313		1880	4107	5987	74608066	SO:0001583	missense	79696	exon2			AK026746	CCDS41972.1, CCDS45138.1	14q24.3	2013-01-10	2012-02-03	2012-02-03	ENSG00000119703	ENSG00000119703		"""Zinc fingers, C2HC-type containing"""	20354	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 140"", ""family with sequence similarity 164, member C"""	C14orf140, FAM164C			Standard	XM_005268062		Approved		uc001xrh.3	Q53FD0	OTTHUMG00000167439	ENST00000524913.1:c.1037C>T	14.37:g.75538313C>T	ENSP00000435550:p.Ser346Leu		74608066	NM_024643	E9PJQ0|Q9BTA8|Q9H5S9	Missense_Mutation	SNP	ENST00000524913.1	37	CCDS41972.1	.	.	.	.	.	.	.	.	.	.	C	0.419	-0.909435	0.02434	.	.	ENSG00000119703	ENST00000524913;ENST00000238686	T	0.49720	0.77	4.61	-3.78	0.04333	.	2.622310	0.01411	N	0.014015	T	0.31199	0.0789	N	0.16233	0.39	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.16988	-1.0384	9	.	.	.	1.6601	10.5382	0.45018	0.0:0.4091:0.0:0.5909	.	346	E9PJQ0	.	L	346	ENSP00000435550:S346L	.	S	+	2	0	FAM164C	74608066	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.785000	0.04628	-0.965000	0.03591	-0.126000	0.14955	TCG		0.507	ZC2HC1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394616.4	NM_001042430	
NEK9	91754	broad.mit.edu	37	14	75557978	75557978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:75557978G>A	ENST00000238616.5	-	19	2595	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	813	Interaction with NEK6.|Pro/Ser/Thr-rich.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R813*(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATTACCTTTCGAAGCCAGCCA	0.483																																					p.R813X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2437T	14						.						97.0	93.0	94.0					14																	75557978		2203	4300	6503	74627731	SO:0001587	stop_gained	91754	exon19			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.2437C>T	14.37:g.75557978G>A	ENSP00000238616:p.Arg813*		74627731	NM_033116	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Nonsense_Mutation	SNP	ENST00000238616.5	37	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	G	41	8.867742	0.98984	.	.	ENSG00000119638	ENST00000238616	.	.	.	5.66	5.66	0.87406	.	0.125811	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0806	0.81003	0.0:0.0:0.8656:0.1344	.	.	.	.	X	813	.	ENSP00000238616:R813X	R	-	1	2	NEK9	74627731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.673000	0.54591	2.668000	0.90789	0.462000	0.41574	CGA		0.483	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116	
C14orf1	11161	broad.mit.edu	37	14	76121263	76121263	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:76121263G>A	ENST00000256319.6	-	3	635	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron	NM_007176.3	NP_009107.1	Q9UKR5	ERG28_HUMAN	chromosome 14 open reading frame 1	64					sterol biosynthetic process (GO:0016126)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.R64C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6		all_epithelial(191;0.125)|all_neural(303;0.13)|Myeloproliferative disorder(585;0.163)		BRCA - Breast invasive adenocarcinoma(234;0.00147)		CAGAGGCAGCGAATCACTGAT	0.478											OREG0022817	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R64C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C190T	14						.						273.0	249.0	257.0					14																	76121263		2203	4300	6503	75191016	SO:0001583	missense	11161	exon3			AF134159	CCDS9845.1	14q24.3	2012-08-16			ENSG00000133935	ENSG00000133935			1187	protein-coding gene	gene with protein product		604576				10449901, 12958361, 11160377	Standard	NM_007176		Approved	NET51, ERG28	uc001xrt.3	Q9UKR5	OTTHUMG00000171488	ENST00000256319.6:c.190C>T	14.37:g.76121263G>A	ENSP00000256319:p.Arg64Cys	1165	75191016	NM_007176	Q9P093|Q9UPI2	Missense_Mutation	SNP	ENST00000256319.6	37	CCDS9845.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208714	0.95069	.	.	ENSG00000133935	ENST00000256319	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	L	0.56199	1.76	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72077	-0.4399	9	0.34782	T	0.22	-25.6857	18.7021	0.91625	0.0:0.0:1.0:0.0	.	64	Q9UKR5	ERG28_HUMAN	C	64	.	ENSP00000256319:R64C	R	-	1	0	C14orf1	75191016	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.238000	0.95380	2.732000	0.93576	0.591000	0.81541	CGC		0.478	C14orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413683.1	NM_007176	
IFT43	112752	broad.mit.edu	37	14	76488735	76488735	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:76488735G>A	ENST00000314067.6	+	3	247	c.213G>A	c.(211-213)tcG>tcA	p.S71S	IFT43_ENST00000238628.6_Silent_p.S71S|IFT43_ENST00000556742.1_Silent_p.S71S|IFT43_ENST00000553338.1_3'UTR	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	71					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)		p.S71S(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGAAGGCTTCGAAGTGAGTAC	0.478																																					p.S71S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G213A	14						.						134.0	133.0	133.0					14																	76488735		2203	4300	6503	75558488	SO:0001819	synonymous_variant	112752	exon3			BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.213G>A	14.37:g.76488735G>A			75558488	NM_001102564	B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Silent	SNP	ENST00000314067.6	37	CCDS41973.1																																																																																				0.478	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873	
IFT43	112752	broad.mit.edu	37	14	76542941	76542941	+	Intron	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:76542941G>A	ENST00000314067.6	+	6	329				IFT43_ENST00000238628.6_Splice_Site_p.G73S	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43						cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)		p.G73S(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CTGTTCTAGCGGTACCCAAAC	0.478																																					p.G73S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217A	14						.						116.0	98.0	104.0					14																	76542941		2203	4300	6503	75612694	SO:0001627	intron_variant	112752	exon4			BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.296-5697G>A	14.37:g.76542941G>A			75612694	NM_052873	B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	G	4.646	0.120074	0.08881	.	.	ENSG00000119650	ENST00000238628	T	0.42900	0.96	4.04	0.711	0.18162	.	.	.	.	.	T	0.16938	0.0407	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.27806	-1.0063	8	0.07644	T	0.81	-5.1928	3.3728	0.07227	0.2973:0.0:0.31:0.3927	.	73	Q96FT9-2	.	S	73	ENSP00000238628:G73S	ENSP00000238628:G73S	G	+	1	0	IFT43	75612694	0.000000	0.05858	0.001000	0.08648	0.286000	0.27126	-0.760000	0.04756	0.038000	0.15604	-0.254000	0.11334	GGT		0.478	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873	
TMED8	283578	broad.mit.edu	37	14	77809604	77809604	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:77809604A>G	ENST00000216468.7	-	5	732	c.677T>C	c.(676-678)gTa>gCa	p.V226A		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	226	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	integral component of membrane (GO:0016021)		p.V226A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGTGCTAGTTACAGGGGTCCA	0.458																																					p.V226A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T677C	14						.						102.0	87.0	92.0					14																	77809604		2203	4300	6503	76879357	SO:0001583	missense	283578	exon5			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.677T>C	14.37:g.77809604A>G	ENSP00000216468:p.Val226Ala		76879357	NM_213601	B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	ENST00000216468.7	37	CCDS32125.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665044	0.47677	.	.	ENSG00000100580	ENST00000216468	T	0.23754	1.89	5.71	5.71	0.89125	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	L	0.41492	1.28	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.10177	-1.0641	10	0.02654	T	1	2.5765	15.964	0.79952	1.0:0.0:0.0:0.0	.	226	Q6PL24	TMED8_HUMAN	A	226	ENSP00000216468:V226A	ENSP00000216468:V226A	V	-	2	0	TMED8	76879357	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.962000	0.93254	2.172000	0.68678	0.533000	0.62120	GTA		0.458	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414100.1	NM_213601	
VIPAS39	63894	broad.mit.edu	37	14	77904167	77904167	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:77904167G>T	ENST00000553888.1	-	12	1330	c.820C>A	c.(820-822)Ctt>Att	p.L274I	VIPAS39_ENST00000343765.2_Missense_Mutation_p.L274I|VIPAS39_ENST00000448935.2_Missense_Mutation_p.L225I|VIPAS39_ENST00000556412.1_Missense_Mutation_p.L300I|VIPAS39_ENST00000327028.4_Missense_Mutation_p.L261I|VIPAS39_ENST00000557658.1_Missense_Mutation_p.L274I	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	274					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.L274I(1)									CAGGTTTTAAGAAATTCTTTT	0.348																																					p.L274I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C820A	14						.						114.0	111.0	112.0					14																	77904167		2203	4300	6503	76973920	SO:0001583	missense	63894	exon13			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.820C>A	14.37:g.77904167G>T	ENSP00000452181:p.Leu274Ile		76973920	NM_022067	B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401023	0.83120	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.88614	0.6484	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.957;0.999	P;D	0.71656	0.86;0.974	D	0.88003	0.2757	10	0.52906	T	0.07	-10.9057	19.5305	0.95226	0.0:0.0:1.0:0.0	.	225;274	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	I	274;274;261;274;225;300	ENSP00000339122:L274I;ENSP00000452181:L274I;ENSP00000313098:L261I;ENSP00000452191:L274I;ENSP00000404815:L225I;ENSP00000451857:L300I	ENSP00000313098:L261I	L	-	1	0	VIPAR	76973920	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	5.573000	0.67417	2.707000	0.92482	0.609000	0.83330	CTT		0.348	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067	
NRXN3	9369	broad.mit.edu	37	14	79181455	79181455	+	Nonsense_Mutation	SNP	G	G	T	rs144724543		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:79181455G>T	ENST00000554719.1	+	5	1389	c.898G>T	c.(898-900)Gga>Tga	p.G300*	NRXN3_ENST00000335750.5_Nonsense_Mutation_p.G300*	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.G300*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACCGGCACCGGATACTGGGG	0.582																																					p.G300X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G898T	14						.																																			78251208	SO:0001587	stop_gained	9369	exon5			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.898G>T	14.37:g.79181455G>T	ENSP00000451648:p.Gly300*		78251208	NM_004796	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Nonsense_Mutation	SNP	ENST00000554719.1	37	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	44	10.963365	0.99495	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	X	673;671;300;300	.	.	G	+	1	0	NRXN3	78251208	1.000000	0.71417	0.969000	0.41365	0.980000	0.70556	9.869000	0.99810	2.879000	0.98667	0.650000	0.86243	GGA		0.582	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	
CEP128	145508	broad.mit.edu	37	14	81366324	81366324	+	Missense_Mutation	SNP	C	C	T	rs561372195		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:81366324C>T	ENST00000555265.1	-	7	905	c.530G>A	c.(529-531)cGc>cAc	p.R177H	CEP128_ENST00000281129.3_Missense_Mutation_p.R177H|CEP128_ENST00000327841.2_Missense_Mutation_p.R117H|CEP128_ENST00000216517.6_Missense_Mutation_p.R177H			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	177						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R177H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						ATCTCCAAGGCGAATTTGTTC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		14709	0.0		0.0	False		,,,				2504	0.001				p.R177H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G530A	14						.						83.0	90.0	88.0					14																	81366324		2203	4300	6503	80436077	SO:0001583	missense	145508	exon6			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.530G>A	14.37:g.81366324C>T	ENSP00000451162:p.Arg177His		80436077	NM_152446	B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	CCDS32130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998495|4.998495	0.93227|0.93227	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000554827|ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529	.|T;T;T;T	.|0.61040	.|0.72;0.72;0.14;0.31	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.68357|0.68357	0.2992|0.2992	L|L	0.36672|0.36672	1.1|1.1	0.49798|0.49798	D|D	0.999829|0.999829	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.997;0.997	T|T	0.70296|0.70296	-0.4911|-0.4911	5|10	.|0.66056	.|D	.|0.02	.|.	16.3277|16.3277	0.82994|0.82994	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|177;58;177	.|Q6ZU80-3;Q8N3Z7;Q6ZU80	.|.;.;CE128_HUMAN	T|H	56|177;177;177;177;117;177	.|ENSP00000281129:R177H;ENSP00000451162:R177H;ENSP00000216517:R177H;ENSP00000451137:R177H	.|ENSP00000216517:R177H	A|R	-|-	1|2	0|0	CEP128|CEP128	80436077|80436077	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.997000|4.997000	0.63921|0.63921	2.579000|2.579000	0.87056|0.87056	0.585000|0.585000	0.79938|0.79938	GCC|CGC		0.408	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446	
TSHR	7253	broad.mit.edu	37	14	81606161	81606161	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:81606161T>G	ENST00000541158.2	+	10	1153	c.831T>G	c.(829-831)ctT>ctG	p.L277L	TSHR_ENST00000298171.2_Silent_p.L277L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	277					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.L277L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGGCTGACCTTTCTTACCCAA	0.483			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.L277L		yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T831G	14						.						79.0	67.0	71.0					14																	81606161		2203	4300	6503	80675914	SO:0001819	synonymous_variant	7253	exon9			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.831T>G	14.37:g.81606161T>G			80675914	NM_000369	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																				0.483	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
TSHR	7253	broad.mit.edu	37	14	81609503	81609503	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:81609503C>T	ENST00000541158.2	+	11	1423	c.1101C>T	c.(1099-1101)ggC>ggT	p.G367G	TSHR_ENST00000298171.2_Silent_p.G367G|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	367					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.G367G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTGGTTTTGGCCAGGAGCTCA	0.443			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.G367G		yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1101T	14						.						340.0	301.0	314.0					14																	81609503		2203	4300	6503	80679256	SO:0001819	synonymous_variant	7253	exon10			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1101C>T	14.37:g.81609503C>T			80679256	NM_000369	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																				0.443	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
STON2	85439	broad.mit.edu	37	14	81862267	81862267	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:81862267G>A	ENST00000267540.2	-	2	544	c.344C>T	c.(343-345)tCt>tTt	p.S115F	STON2_ENST00000555447.1_Missense_Mutation_p.S115F	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	115					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)		p.S115F(1)		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)		ATGAGGTGGAGATGTGCTGGC	0.592																																					p.S115F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C344T	14						.						89.0	89.0	89.0					14																	81862267		2203	4300	6503	80932020	SO:0001583	missense	85439	exon2			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.344C>T	14.37:g.81862267G>A	ENSP00000267540:p.Ser115Phe		80932020	NM_033104	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581158	0.65992	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55760	0.5;0.5	5.82	3.78	0.43462	Stonin-2, N-terminal (1);	0.397054	0.21783	N	0.069176	T	0.49115	0.1538	L	0.47716	1.5	0.25976	N	0.982435	P;P;P	0.50369	0.934;0.934;0.919	P;P;B	0.48030	0.564;0.459;0.42	T	0.41484	-0.9506	10	0.46703	T	0.11	-3.1527	8.3879	0.32512	0.2257:0.0:0.7743:0.0	.	115;115;115	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	F	115;127;115	ENSP00000450857:S115F;ENSP00000267540:S115F	ENSP00000267540:S115F	S	-	2	0	STON2	80932020	0.956000	0.32656	0.980000	0.43619	0.930000	0.56654	0.688000	0.25422	1.468000	0.48064	0.655000	0.94253	TCT		0.592	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
FLRT2	23768	broad.mit.edu	37	14	86087985	86087985	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:86087985G>A	ENST00000330753.4	+	2	894	c.127G>A	c.(127-129)Gac>Aac	p.D43N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D43N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	43	LRRNT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.D43N(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTGCCGCTGCGACAGGAACTT	0.522																																					p.D43N												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G127A	14						.						124.0	116.0	118.0					14																	86087985		2203	4300	6503	85157738	SO:0001583	missense	23768	exon2			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.127G>A	14.37:g.86087985G>A	ENSP00000332879:p.Asp43Asn		85157738	NM_013231	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224776	0.95173	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	D;D	0.96104	-3.91;-3.91	5.73	5.73	0.89815	Leucine-rich repeat-containing N-terminal (2);	0.047964	0.85682	D	0.000000	D	0.90270	0.6957	N	0.17631	0.505	0.80722	D	1	P	0.46457	0.878	B	0.34038	0.174	D	0.90594	0.4539	10	0.42905	T	0.14	-31.8616	19.9036	0.96999	0.0:0.0:1.0:0.0	.	43	O43155	FLRT2_HUMAN	N	43	ENSP00000332879:D43N;ENSP00000451050:D43N	ENSP00000332879:D43N	D	+	1	0	FLRT2	85157738	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.061000	0.89467	2.706000	0.92434	0.655000	0.94253	GAC		0.522	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
GPR65	8477	broad.mit.edu	37	14	88477965	88477965	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:88477965C>T	ENST00000267549.3	+	2	1332	c.774C>T	c.(772-774)ttC>ttT	p.F258F	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	258					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F258F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGTGAACTTCGAAGACCACA	0.383																																					p.F258F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C774T	14						.						108.0	98.0	101.0					14																	88477965		2203	4300	6503	87547718	SO:0001819	synonymous_variant	8477	exon2			U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.774C>T	14.37:g.88477965C>T			87547718	NM_003608	O75819	Silent	SNP	ENST00000267549.3	37	CCDS9879.1																																																																																				0.383	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4		
KCNK10	54207	broad.mit.edu	37	14	88792776	88792776	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:88792776G>T	ENST00000340700.5	-	1	475	c.24C>A	c.(22-24)ttC>ttA	p.F8L		NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	8					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.F8L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGGAAAGAAAGAAGTCTGTGT	0.502																																					p.F8L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C24A	14						.						75.0	80.0	78.0					14																	88792776		2203	4300	6503	87862529	SO:0001583	missense	54207	exon1			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.24C>A	14.37:g.88792776G>T	ENSP00000343104:p.Phe8Leu		87862529	NM_021161	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024451	0.54683	.	.	ENSG00000100433	ENST00000340700	D	0.90385	-2.66	5.25	5.25	0.73442	.	.	.	.	.	T	0.81659	0.4869	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.77523	-0.2556	9	0.52906	T	0.07	.	14.3557	0.66735	0.0:0.0:1.0:0.0	.	8	P57789	KCNKA_HUMAN	L	8	ENSP00000343104:F8L	ENSP00000343104:F8L	F	-	3	2	KCNK10	87862529	0.997000	0.39634	0.884000	0.34674	0.047000	0.14425	1.728000	0.38105	2.436000	0.82500	0.655000	0.94253	TTC		0.502	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
ZC3H14	79882	broad.mit.edu	37	14	89042251	89042251	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:89042251G>T	ENST00000251038.5	+	8	1315	c.1090G>T	c.(1090-1092)Gaa>Taa	p.E364*	ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Nonsense_Mutation_p.E209*|ZC3H14_ENST00000336693.4_Nonsense_Mutation_p.E330*|ZC3H14_ENST00000555755.1_Nonsense_Mutation_p.E364*|ZC3H14_ENST00000393514.5_Nonsense_Mutation_p.E364*|ZC3H14_ENST00000302216.8_Nonsense_Mutation_p.E364*|ZC3H14_ENST00000556945.1_Nonsense_Mutation_p.E364*|ZC3H14_ENST00000359301.3_Nonsense_Mutation_p.E330*	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	364						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TGAAGCTCAAGAATCCGTAAC	0.308																																					p.E364X												.	.	0			c.G1090T	14						.						102.0	106.0	104.0					14																	89042251		2203	4300	6503	88112004	SO:0001587	stop_gained	79882	exon8			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1090G>T	14.37:g.89042251G>T	ENSP00000251038:p.Glu364*		88112004	NM_001160104	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Nonsense_Mutation	SNP	ENST00000251038.5	37	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.246233|7.246233	0.98161|0.98161	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.053032|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76557	.|0.4004	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74976	.|-0.3480	.|3	0.27785|.	T|.	0.31|.	-22.2812|-22.2812	19.5581|19.5581	0.95361|0.95361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	364;364;364;330;364;345;364;209;364;364;330|279	.|.	ENSP00000251038:E364X|.	E|K	+|+	1|3	0|2	ZC3H14|ZC3H14	88112004|88112004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.199000|9.199000	0.95003|0.95003	2.614000|2.614000	0.88457|0.88457	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.308	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824	
NRDE2	55051	broad.mit.edu	37	14	90769176	90769176	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:90769176C>T	ENST00000354366.3	-	6	1531	c.1299G>A	c.(1297-1299)tcG>tcA	p.S433S	NRDE2_ENST00000357904.3_Silent_p.S202S	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	433								p.S433S(1)									TTTTTGATATCGAAAAGGTAC	0.423																																					p.S433S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1299A	14						.						67.0	69.0	68.0					14																	90769176		2203	4300	6503	89838929	SO:0001819	synonymous_variant	55051	exon6			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1299G>A	14.37:g.90769176C>T			89838929	NM_017970	B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	CCDS9890.1																																																																																				0.423	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970	
TTC7B	145567	broad.mit.edu	37	14	91155942	91155942	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:91155942C>T	ENST00000328459.6	-	7	1013	c.892G>A	c.(892-894)Gga>Aga	p.G298R	TTC7B_ENST00000357056.2_Missense_Mutation_p.G298R	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	298										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GTGTTTGCTCCTTTGCGGAGA	0.527																																					p.G298R												.	.	0			c.G892A	14						.						136.0	110.0	119.0					14																	91155942		2203	4300	6503	90225695	SO:0001583	missense	145567	exon7			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.892G>A	14.37:g.91155942C>T	ENSP00000336127:p.Gly298Arg		90225695	NM_001010854	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321865	0.60634	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	T;T	0.37411	1.89;1.2	5.81	5.81	0.92471	.	0.055074	0.64402	D	0.000001	T	0.32912	0.0845	L	0.34521	1.04	0.53688	D	0.999977	P	0.41748	0.761	B	0.41571	0.36	T	0.02411	-1.1163	10	0.15952	T	0.53	-11.0311	19.6735	0.95921	0.0:1.0:0.0:0.0	.	298	Q86TV6	TTC7B_HUMAN	R	196;298;298;40	ENSP00000349564:G298R;ENSP00000336127:G298R	ENSP00000336127:G298R	G	-	1	0	TTC7B	90225695	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.554000	0.67294	2.736000	0.93811	0.655000	0.94253	GGA		0.527	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2		
RPS6KA5	9252	broad.mit.edu	37	14	91413793	91413793	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:91413793C>T	ENST00000261991.3	-	4	669	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E87K|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E166K	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	166	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E166K(4)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TGGAGATGTTCGAGGGCAAGC	0.378																																					p.E166K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G496A	14						.						109.0	107.0	108.0					14																	91413793		2203	4300	6503	90483546	SO:0001583	missense	9252	exon4			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.496G>A	14.37:g.91413793C>T	ENSP00000261991:p.Glu166Lys		90483546	NM_004755	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396017	0.83011	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.65549	-0.16;-0.16;-0.16	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050610	0.85682	D	0.000000	T	0.74489	0.3723	L	0.43701	1.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.965	T	0.76537	-0.2923	10	0.72032	D	0.01	.	19.0272	0.92937	0.0:1.0:0.0:0.0	.	166;166	O75582-2;O75582	.;KS6A5_HUMAN	K	166;87;166	ENSP00000261991:E166K;ENSP00000442803:E87K;ENSP00000402787:E166K	ENSP00000261991:E166K	E	-	1	0	RPS6KA5	90483546	1.000000	0.71417	0.986000	0.45419	0.473000	0.32948	7.440000	0.80464	2.502000	0.84385	0.591000	0.81541	GAA		0.378	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
CATSPERB	79820	broad.mit.edu	37	14	92174488	92174488	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:92174488G>A	ENST00000256343.3	-	6	619	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	155					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.R155*(2)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CATTTACCTCGAATAACATCC	0.353																																					p.R155X												.	.	2	Substitution - Nonsense(2)	ovary(1)|large_intestine(1)	c.C463T	14						.						132.0	124.0	127.0					14																	92174488		2201	4297	6498	91244241	SO:0001587	stop_gained	79820	exon6			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.463C>T	14.37:g.92174488G>A	ENSP00000256343:p.Arg155*		91244241	NM_024764	A0AV51	Nonsense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598942	0.87055	.	.	ENSG00000133962	ENST00000256343;ENST00000553329	.	.	.	5.11	3.17	0.36434	.	0.000000	0.37809	N	0.001933	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4392	0.50086	0.0:0.0:0.5479:0.4521	.	.	.	.	X	155;108	.	ENSP00000256343:R155X	R	-	1	2	CATSPERB	91244241	0.874000	0.30092	0.849000	0.33467	0.315000	0.28087	1.033000	0.30191	1.120000	0.41904	0.467000	0.42956	CGA		0.353	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
TC2N	123036	broad.mit.edu	37	14	92251562	92251562	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:92251562A>C	ENST00000435962.2	-	11	1629	c.1306T>G	c.(1306-1308)Ttt>Gtt	p.F436V	TC2N_ENST00000340892.5_Missense_Mutation_p.F436V|TC2N_ENST00000360594.5_Missense_Mutation_p.F436V|TC2N_ENST00000556018.1_Missense_Mutation_p.F372V	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	436	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)		p.F436V(1)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTAATGAGAAAAACAATTTCT	0.358																																					p.F436V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1306G	14						.						134.0	147.0	142.0					14																	92251562		2203	4300	6503	91321315	SO:0001583	missense	123036	exon11			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1306T>G	14.37:g.92251562A>C	ENSP00000387882:p.Phe436Val		91321315	NM_001128596		Missense_Mutation	SNP	ENST00000435962.2	37	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451056	0.43531	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.62	5.62	0.85841	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.051752	0.85682	D	0.000000	T	0.67998	0.2953	L	0.27053	0.805	0.31137	N	0.707065	P;D	0.61080	0.553;0.989	P;P	0.57620	0.464;0.824	T	0.70310	-0.4907	10	0.39692	T	0.17	-25.4032	15.8225	0.78667	1.0:0.0:0.0:0.0	.	372;436	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	V	436;436;436;372;188	ENSP00000387882:F436V;ENSP00000343199:F436V;ENSP00000353802:F436V;ENSP00000451317:F372V;ENSP00000450922:F188V	ENSP00000343199:F436V	F	-	1	0	TC2N	91321315	1.000000	0.71417	0.681000	0.30009	0.246000	0.25737	7.114000	0.77103	2.138000	0.66242	0.533000	0.62120	TTT		0.358	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332	
FBLN5	10516	broad.mit.edu	37	14	92349413	92349413	+	Silent	SNP	G	G	A	rs554422450		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:92349413G>A	ENST00000342058.4	-	8	1340	c.747C>T	c.(745-747)gaC>gaT	p.D249D	FBLN5_ENST00000556154.1_Silent_p.D254D|FBLN5_ENST00000267620.10_Silent_p.D290D	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	249	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)	p.D249D(1)|p.D249E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGCTGCACTCGTCCATATCTG	0.532																																					p.D249D												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C747T	14						.						136.0	114.0	121.0					14																	92349413		2203	4300	6503	91419166	SO:0001819	synonymous_variant	10516	exon8			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.747C>T	14.37:g.92349413G>A			91419166	NM_006329	O75966|Q6IAL4|Q6UWA3	Silent	SNP	ENST00000342058.4	37	CCDS9898.1																																																																																				0.532	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1		
TRIP11	9321	broad.mit.edu	37	14	92470812	92470812	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:92470812C>A	ENST00000267622.4	-	11	3881	c.3508G>T	c.(3508-3510)Gac>Tac	p.D1170Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1170					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.D1170Y(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATTTCGATGTCTTTTTCTCGA	0.343			T	PDGFRB	AML																																p.D1170Y	Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3508T	14						.						73.0	65.0	68.0					14																	92470812		2203	4300	6503	91540565	SO:0001583	missense	9321	exon11			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3508G>T	14.37:g.92470812C>A	ENSP00000267622:p.Asp1170Tyr		91540565	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.581672|2.581672	0.46006|0.46006	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.21543|.	2.0|.	5.26|5.26	4.37|4.37	0.52481|0.52481	.|.	0.050452|.	0.85682|.	D|.	0.000000|.	T|T	0.54062|0.54062	0.1835|0.1835	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.995;1.0|.	T|T	0.49390|0.49390	-0.8945|-0.8945	10|5	0.87932|.	D|.	0|.	.|.	13.4954|13.4954	0.61424|0.61424	0.0:0.9249:0.0:0.0751|0.0:0.9249:0.0:0.0751	.|.	906;1170|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Y|I	1170;906|885	ENSP00000267622:D1170Y|.	ENSP00000267622:D1170Y|.	D|R	-|-	1|2	0|0	TRIP11|TRIP11	91540565|91540565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.506000|0.506000	0.33950|0.33950	7.773000|7.773000	0.85462|0.85462	1.209000|1.209000	0.43321|0.43321	0.557000|0.557000	0.71058|0.71058	GAC|AGA		0.343	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
RIN3	79890	broad.mit.edu	37	14	93125602	93125602	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:93125602C>T	ENST00000216487.7	+	7	2282	c.2123C>T	c.(2122-2124)tCg>tTg	p.S708L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	708	Interaction with RAB5B.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S708L(2)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AAGGATGGTTCGCTGCAGCAG	0.547																																					p.S708L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2123T	14						.						195.0	175.0	182.0					14																	93125602		2203	4300	6503	92195355	SO:0001583	missense	79890	exon7			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2123C>T	14.37:g.93125602C>T	ENSP00000216487:p.Ser708Leu		92195355	NM_024832	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599227	0.66332	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.08807	3.05	5.84	5.84	0.93424	Vacuolar sorting protein 9 (1);	0.448888	0.24224	N	0.040419	T	0.30634	0.0771	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.997;0.957;0.968;1.0	P;B;B;D	0.64237	0.859;0.223;0.171;0.923	T	0.00579	-1.1661	10	0.87932	D	0	-13.3514	20.1278	0.97990	0.0:1.0:0.0:0.0	.	708;754;633;708	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	L	708;632	ENSP00000216487:S708L	ENSP00000216487:S708L	S	+	2	0	RIN3	92195355	0.014000	0.17966	0.990000	0.47175	0.360000	0.29518	1.422000	0.34826	2.768000	0.95171	0.561000	0.74099	TCG		0.547	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
UNC79	57578	broad.mit.edu	37	14	94089139	94089139	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:94089139G>A	ENST00000393151.2	+	30	5560	c.5560G>A	c.(5560-5562)Gac>Aac	p.D1854N	UNC79_ENST00000256339.4_Missense_Mutation_p.D1677N|UNC79_ENST00000553484.1_Missense_Mutation_p.D1876N|UNC79_ENST00000555664.1_Missense_Mutation_p.D1854N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1854					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1876N(1)|p.D1677N(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGAGTACCTCGACATCTCCTT	0.458																																					p.D1677N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5029A	14						.						78.0	73.0	75.0					14																	94089139		2203	4300	6503	93158892	SO:0001583	missense	57578	exon30			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5560G>A	14.37:g.94089139G>A	ENSP00000376858:p.Asp1854Asn		93158892	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.311405	0.81358	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.31769	1.56;1.48;1.57;1.56	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	L	0.32530	0.975	0.53688	D	0.999972	D	0.89917	1.0	D	0.71656	0.974	T	0.43130	-0.9410	10	0.72032	D	0.01	-23.9939	19.8737	0.96861	0.0:0.0:1.0:0.0	.	1876	C9JQL1	.	N	1677;1854;1876;1854;1876	ENSP00000256339:D1677N;ENSP00000450868:D1854N;ENSP00000451360:D1876N;ENSP00000376858:D1854N	ENSP00000256339:D1677N	D	+	1	0	KIAA1409	93158892	1.000000	0.71417	0.967000	0.41034	0.986000	0.74619	9.476000	0.97823	2.705000	0.92388	0.484000	0.47621	GAC		0.458	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94109928	94109928	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:94109928G>T	ENST00000393151.2	+	35	6046	c.6046G>T	c.(6046-6048)Gaa>Taa	p.E2016*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.E1839*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.E2038*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E1977*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2016					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E2038*(1)|p.E1839*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCCATTCTTGAAGAATACGA	0.468																																					p.E1839X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G5515T	14						.						142.0	121.0	128.0					14																	94109928		2203	4300	6503	93179681	SO:0001587	stop_gained	57578	exon35			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6046G>T	14.37:g.94109928G>T	ENSP00000376858:p.Glu2016*		93179681	NM_020818	B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	47	13.251218	0.99730	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.1241	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	1839;1977;2038;2016;2038	.	ENSP00000256339:E1839X	E	+	1	0	KIAA1409	93179681	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAA		0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94120314	94120314	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:94120314G>A	ENST00000393151.2	+	38	6342	c.6342G>A	c.(6340-6342)tcG>tcA	p.S2114S	UNC79_ENST00000256339.4_Silent_p.S1937S|UNC79_ENST00000553484.1_Silent_p.S2136S|UNC79_ENST00000555664.1_Silent_p.S2075S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2114					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2136S(1)|p.S1937S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCTTAGCCTCGTCTCTGATGG	0.502																																					p.S1937S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5811A	14						.						160.0	148.0	152.0					14																	94120314		2203	4300	6503	93190067	SO:0001819	synonymous_variant	57578	exon38			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6342G>A	14.37:g.94120314G>A			93190067	NM_020818	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.502	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC79	57578	broad.mit.edu	37	14	94139703	94139703	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:94139703G>T	ENST00000393151.2	+	42	6760	c.6760G>T	c.(6760-6762)Gat>Tat	p.D2254Y	UNC79_ENST00000256339.4_Missense_Mutation_p.D2077Y|UNC79_ENST00000553484.1_Missense_Mutation_p.D2276Y|UNC79_ENST00000555664.1_Missense_Mutation_p.D2215Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2254					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D2276Y(1)|p.D2077Y(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTAGGAACGAGATAAATTCTA	0.373																																					p.D2077Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6229T	14						.						145.0	141.0	142.0					14																	94139703		2203	4300	6503	93209456	SO:0001583	missense	57578	exon42			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6760G>T	14.37:g.94139703G>T	ENSP00000376858:p.Asp2254Tyr		93209456	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	22.2	4.256521	0.80246	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.28666	1.6;1.64;1.6;1.6	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.57248	-0.7844	10	0.87932	D	0	-22.7076	20.2789	0.98501	0.0:0.0:1.0:0.0	.	2276	C9JQL1	.	Y	2077;2215;2276;2254;2276	ENSP00000256339:D2077Y;ENSP00000450868:D2215Y;ENSP00000451360:D2276Y;ENSP00000376858:D2254Y	ENSP00000256339:D2077Y	D	+	1	0	KIAA1409	93209456	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.571000	0.98176	2.788000	0.95919	0.650000	0.86243	GAT		0.373	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
FAM181A	90050	broad.mit.edu	37	14	94394670	94394670	+	Silent	SNP	C	C	T	rs530318003	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:94394670C>T	ENST00000267594.5	+	3	532	c.225C>T	c.(223-225)ttC>ttT	p.F75F	FAM181A_ENST00000556222.1_Silent_p.F13F|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Silent_p.F13F|FAM181A_ENST00000557719.1_Silent_p.F13F	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	75								p.F75F(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCTGAACTTCGTGAACCTGG	0.612													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17443	0.0		0.0	False		,,,				2504	0.0				p.F75F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C225T	14						.						82.0	73.0	76.0					14																	94394670		2203	4300	6503	93464423	SO:0001819	synonymous_variant	90050	exon3			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.225C>T	14.37:g.94394670C>T			93464423	NM_138344	B2RD39|Q96GY1	Silent	SNP	ENST00000267594.5	37	CCDS9914.1																																																																																				0.612	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344	
PPP4R4	57718	broad.mit.edu	37	14	94674876	94674876	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:94674876G>A	ENST00000304338.3	+	3	421	c.267G>A	c.(265-267)acG>acA	p.T89T	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Silent_p.T89T	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.T89T(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCACTGAGACGCTTCGGAGAG	0.388																																					p.T89T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G267A	14						.						75.0	73.0	74.0					14																	94674876		2203	4300	6503	93744629	SO:0001819	synonymous_variant	57718	exon3			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.267G>A	14.37:g.94674876G>A			93744629	NM_020958	Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	CCDS9921.1																																																																																				0.388	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
PPP4R4	57718	broad.mit.edu	37	14	94700960	94700960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:94700960C>T	ENST00000304338.3	+	7	839	c.685C>T	c.(685-687)Cga>Tga	p.R229*		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	229					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.R229*(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATATGAAGTTCGATCTTGTAT	0.383																																					p.R229X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C685T	14						.						145.0	137.0	140.0					14																	94700960		2203	4300	6503	93770713	SO:0001587	stop_gained	57718	exon7			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.685C>T	14.37:g.94700960C>T	ENSP00000305924:p.Arg229*		93770713	NM_058237	Q9BUF8|Q9HCF0	Nonsense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	37	5.999849	0.97189	.	.	ENSG00000119698	ENST00000304338	.	.	.	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3696	14.6726	0.68956	0.2773:0.7227:0.0:0.0	.	.	.	.	X	229	.	ENSP00000305924:R229X	R	+	1	2	PPP4R4	93770713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.173000	0.58249	1.442000	0.47568	0.655000	0.94253	CGA		0.383	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
PPP4R4	57718	broad.mit.edu	37	14	94725673	94725673	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:94725673G>T	ENST00000304338.3	+	19	2248	c.2094G>T	c.(2092-2094)gaG>gaT	p.E698D		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	698					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.E698D(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGGATCAAGAGAAAGAAAGAG	0.279																																					p.E698D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2094T	14						.						27.0	29.0	28.0					14																	94725673		2189	4287	6476	93795426	SO:0001583	missense	57718	exon19			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2094G>T	14.37:g.94725673G>T	ENSP00000305924:p.Glu698Asp		93795426	NM_058237	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256902	0.39896	.	.	ENSG00000119698	ENST00000304338	.	.	.	4.97	3.06	0.35304	.	0.125086	0.53938	D	0.000049	T	0.40423	0.1116	L	0.57536	1.79	0.80722	D	1	P	0.40731	0.728	B	0.36092	0.217	T	0.22977	-1.0201	9	0.33141	T	0.24	-7.3421	4.5583	0.12147	0.2321:0.2022:0.5657:0.0	.	698	Q6NUP7	PP4R4_HUMAN	D	698	.	ENSP00000305924:E698D	E	+	3	2	PPP4R4	93795426	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.655000	0.37345	1.184000	0.42957	0.460000	0.39030	GAG		0.279	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237	
SERPINA11	256394	broad.mit.edu	37	14	94914771	94914771	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:94914771T>C	ENST00000334708.3	-	2	405	c.341A>G	c.(340-342)gAc>gGc	p.D114G	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	114					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D296G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTGGTGGATGTCGGCTTCAGG	0.587																																					p.D114G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A341G	14						.						88.0	94.0	92.0					14																	94914771		2203	4300	6503	93984524	SO:0001583	missense	256394	exon2			BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.341A>G	14.37:g.94914771T>C	ENSP00000335024:p.Asp114Gly		93984524	NM_001080451	B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141976	0.57044	.	.	ENSG00000186910	ENST00000334708	D	0.85088	-1.94	5.04	5.04	0.67666	Serpin domain (3);	0.357928	0.26190	N	0.025814	D	0.90903	0.7141	M	0.70787	2.145	0.35600	D	0.807821	D	0.58970	0.984	D	0.65233	0.933	D	0.94311	0.7545	10	0.72032	D	0.01	.	14.9568	0.71120	0.0:0.0:0.0:1.0	.	114	Q86U17	SPA11_HUMAN	G	114	ENSP00000335024:D114G	ENSP00000335024:D114G	D	-	2	0	SERPINA11	93984524	1.000000	0.71417	0.642000	0.29436	0.076000	0.17211	4.195000	0.58400	2.119000	0.64992	0.533000	0.62120	GAC		0.587	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451	
SERPINA5	5104	broad.mit.edu	37	14	95054239	95054239	+	Silent	SNP	G	G	A	rs146244413		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:95054239G>A	ENST00000554866.1	+	2	654	c.540G>A	c.(538-540)acG>acA	p.T180T	SERPINA5_ENST00000553780.1_Silent_p.T180T|SERPINA5_ENST00000329597.7_Silent_p.T180T|SERPINA5_ENST00000554276.1_Silent_p.T180T			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	180					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T180T(2)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CAAAGCAAACGAAGGGCAAGA	0.483																																					p.T180T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G540A	14						.						129.0	114.0	119.0					14																	95054239		2203	4300	6503	94123992	SO:0001819	synonymous_variant	5104	exon3			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.540G>A	14.37:g.95054239G>A			94123992	NM_000624	Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	CCDS9928.1																																																																																				0.483	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624	
CLMN	79789	broad.mit.edu	37	14	95679561	95679561	+	Silent	SNP	C	C	T	rs143229821		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:95679561C>T	ENST00000298912.4	-	6	716	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	201	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T201T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTTACTTTCTCGTTTTCCTCT	0.512																																					p.T201T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G603A	14						.	C		1,4405	2.1+/-5.4	0,1,2202	130.0	103.0	112.0		603	-10.6	0.0	14	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLMN	NM_024734.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		201/1003	95679561	2,13004	2203	4300	6503	94749314	SO:0001819	synonymous_variant	79789	exon6			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.603G>A	14.37:g.95679561C>T			94749314	NM_024734	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	CCDS9933.1																																																																																				0.512	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2		
TCL6	27004	broad.mit.edu	37	14	96137757	96137757	+	RNA	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:96137757G>A	ENST00000467865.1	+	0	2114				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)									p.A104T(1)		large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		caaagtgggagcccgataaat	0.488			T	TRA@	T-ALL																																.			Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	.	14						.						29.0	29.0	29.0					14																	96137757		2203	4300	6503	95207510			27004	.			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96137757G>A			95207510	.		Missense_Mutation	SNP	ENST00000467865.1	37																																																																																					0.488	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1	NM_012468	
ATG2B	55102	broad.mit.edu	37	14	96791995	96791995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:96791995C>A	ENST00000359933.4	-	15	3321	c.2428G>T	c.(2428-2430)Gaa>Taa	p.E810*	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	810					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E810*(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCAATTAGTTCTCTAAAGGTA	0.358																																					p.E810X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2428T	14						.						65.0	60.0	61.0					14																	96791995		1818	4076	5894	95861748	SO:0001587	stop_gained	55102	exon15			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2428G>T	14.37:g.96791995C>A	ENSP00000353010:p.Glu810*		95861748	NM_018036	Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	48	14.903387	0.99815	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.72	5.72	0.89469	.	0.074257	0.52532	U	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.8965	0.96963	0.0:1.0:0.0:0.0	.	.	.	.	X	810	.	ENSP00000353010:E810X	E	-	1	0	ATG2B	95861748	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.270000	0.78493	2.717000	0.92951	0.655000	0.94253	GAA		0.358	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	
AK7	122481	broad.mit.edu	37	14	96875238	96875238	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:96875238C>T	ENST00000267584.4	+	4	502	c.458C>T	c.(457-459)tCg>tTg	p.S153L	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	153					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.S153L(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTTTACTGTCGACGGTGATG	0.468																																					p.S153L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C458T	14						.						100.0	96.0	97.0					14																	96875238		2203	4300	6503	95944991	SO:0001583	missense	122481	exon4			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.458C>T	14.37:g.96875238C>T	ENSP00000267584:p.Ser153Leu		95944991	NM_152327	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510512	0.44660	.	.	ENSG00000140057	ENST00000267584	T	0.71103	-0.54	5.1	4.2	0.49525	.	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85774	0.1357	10	0.87932	D	0	-20.4202	11.0308	0.47772	0.0:0.9107:0.0:0.0893	.	153	Q96M32	KAD7_HUMAN	L	153	ENSP00000267584:S153L	ENSP00000267584:S153L	S	+	2	0	AK7	95944991	0.999000	0.42202	0.342000	0.25602	0.002000	0.02628	4.965000	0.63708	1.274000	0.44362	0.655000	0.94253	TCG		0.468	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
AK7	122481	broad.mit.edu	37	14	96924468	96924468	+	Missense_Mutation	SNP	G	G	A	rs149622950		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:96924468G>A	ENST00000267584.4	+	12	1320	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	426	Adenylate kinase.|NMPbind. {ECO:0000250}.|Poly-Glu.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.E426K(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		agaagaagtcgaagaggaaga	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19060	0.0		0.001	False		,,,				2504	0.0				p.E426K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1276A	14						.						111.0	92.0	98.0					14																	96924468		2203	4300	6503	95994221	SO:0001583	missense	122481	exon12			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1276G>A	14.37:g.96924468G>A	ENSP00000267584:p.Glu426Lys		95994221	NM_152327	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	CCDS9945.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.023	0.985353	0.18889	.	.	ENSG00000140057	ENST00000267584	D	0.93189	-3.18	4.69	4.69	0.59074	.	0.695501	0.14222	N	0.333332	D	0.87176	0.6112	N	0.13043	0.29	0.80722	D	1	B	0.19073	0.033	B	0.19391	0.025	T	0.81328	-0.0982	10	0.18276	T	0.48	-0.8093	16.4143	0.83729	0.0:0.0:1.0:0.0	.	426	Q96M32	KAD7_HUMAN	K	426	ENSP00000267584:E426K	ENSP00000267584:E426K	E	+	1	0	AK7	95994221	0.986000	0.35501	0.406000	0.26421	0.237000	0.25408	3.731000	0.55013	2.167000	0.68274	0.313000	0.20887	GAA		0.507	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
AK7	122481	broad.mit.edu	37	14	96953302	96953302	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:96953302G>A	ENST00000267584.4	+	17	2086	c.2042G>A	c.(2041-2043)aGa>aAa	p.R681K		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	681	DPY-30.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.R681K(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATTCCCCTGAGAAACTATTTA	0.388																																					p.R681K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2042A	14						.						88.0	86.0	87.0					14																	96953302		2203	4300	6503	96023055	SO:0001583	missense	122481	exon17			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.2042G>A	14.37:g.96953302G>A	ENSP00000267584:p.Arg681Lys		96023055	NM_152327	Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934283	0.92458	.	.	ENSG00000140057	ENST00000267584	T	0.71341	-0.56	5.45	5.45	0.79879	Dpy-30 motif (1);	0.000000	0.85682	D	0.000000	D	0.83815	0.5336	M	0.70108	2.13	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.83593	0.0124	10	0.51188	T	0.08	-29.5699	19.6306	0.95700	0.0:0.0:1.0:0.0	.	681	Q96M32	KAD7_HUMAN	K	681	ENSP00000267584:R681K	ENSP00000267584:R681K	R	+	2	0	AK7	96023055	1.000000	0.71417	0.989000	0.46669	0.767000	0.43475	9.632000	0.98428	2.718000	0.92993	0.591000	0.81541	AGA		0.388	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
PAPOLA	10914	broad.mit.edu	37	14	97010501	97010501	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:97010501G>A	ENST00000216277.8	+	15	1525	c.1305G>A	c.(1303-1305)acG>acA	p.T435T	PAPOLA_ENST00000392990.2_Silent_p.T435T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	435					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.T435T(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AATTTCGCACGATGTGGGTGA	0.378																																					p.T435T	NSCLC(19;254 734 11908 35501 39234)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1305A	14						.						124.0	126.0	125.0					14																	97010501		2203	4300	6503	96080254	SO:0001819	synonymous_variant	10914	exon15			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1305G>A	14.37:g.97010501G>A			96080254	NM_032632	Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Silent	SNP	ENST00000216277.8	37	CCDS9946.1																																																																																				0.378	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2		
SETD3	84193	broad.mit.edu	37	14	99925463	99925463	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:99925463T>G	ENST00000331768.5	-	5	564	c.405A>C	c.(403-405)aaA>aaC	p.K135N	SETD3_ENST00000436070.2_Missense_Mutation_p.K135N|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000329331.3_Missense_Mutation_p.K135N	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	135	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.K135N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ACACTGAATTTTTAGCAGATT	0.328																																					p.K135N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A405C	14						.						128.0	131.0	130.0					14																	99925463		2203	4300	6503	98995216	SO:0001583	missense	84193	exon5			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.405A>C	14.37:g.99925463T>G	ENSP00000327436:p.Lys135Asn		98995216	NM_032233	A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.714191	0.68730	.	.	ENSG00000183576	ENST00000331768;ENST00000329331;ENST00000436070	T;T;T	0.81247	-1.47;-1.47;-1.47	5.47	4.33	0.51752	SET domain (1);	0.050303	0.85682	D	0.000000	T	0.79930	0.4531	L	0.47716	1.5	0.58432	D	0.999997	B;P;D	0.61697	0.123;0.782;0.99	B;B;P	0.54431	0.019;0.291;0.752	T	0.74925	-0.3498	10	0.17832	T	0.49	-18.6395	10.7703	0.46319	0.0:0.0755:0.0:0.9245	.	135;135;135	Q6NXR6;A0PJU3;Q86TU7	.;.;SETD3_HUMAN	N	135	ENSP00000327436:K135N;ENSP00000327910:K135N;ENSP00000408602:K135N	ENSP00000327910:K135N	K	-	3	2	SETD3	98995216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.121000	0.41977	1.025000	0.39708	0.455000	0.32223	AAA		0.328	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233	
EML1	2009	broad.mit.edu	37	14	100380994	100380994	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:100380994A>G	ENST00000262233.6	+	15	1851	c.1712A>G	c.(1711-1713)gAc>gGc	p.D571G	EML1_ENST00000334192.4_Missense_Mutation_p.D590G|EML1_ENST00000327921.9_Missense_Mutation_p.D559G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	571	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.D590G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACTCTCTGGGACGCTGTGGGT	0.453																																					p.D590G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1769G	14						.						71.0	62.0	65.0					14																	100380994		2203	4300	6503	99450747	SO:0001583	missense	2009	exon16			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1712A>G	14.37:g.100380994A>G	ENSP00000262233:p.Asp571Gly		99450747	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.791552	0.90367	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T	0.61040	0.14;0.14;0.14	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80752	0.4683	M	0.91768	3.24	0.80722	D	1	D;P;D	0.76494	0.999;0.757;0.998	D;B;D	0.85130	0.997;0.445;0.948	D	0.85473	0.1174	10	0.72032	D	0.01	-31.8023	14.9706	0.71232	1.0:0.0:0.0:0.0	.	559;571;590	F8W717;O00423;O00423-3	.;EMAL1_HUMAN;.	G	559;571;590;590	ENSP00000327384:D559G;ENSP00000262233:D571G;ENSP00000334314:D590G	ENSP00000262233:D571G	D	+	2	0	EML1	99450747	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.118000	0.94355	1.941000	0.56285	0.533000	0.62120	GAC		0.453	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
WARS	7453	broad.mit.edu	37	14	100813111	100813111	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:100813111A>C	ENST00000355338.2	-	7	1416	c.798T>G	c.(796-798)atT>atG	p.I266M	WARS_ENST00000358655.4_Missense_Mutation_p.I225M|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.I225M|WARS_ENST00000392882.2_Missense_Mutation_p.I266M|WARS_ENST00000344102.5_Missense_Mutation_p.I225M|WARS_ENST00000557135.1_Missense_Mutation_p.I266M	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	266					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGAAGCCGAAAATGCCTTTCA	0.478																																					p.I266M												.	.	0			c.T798G	14						.						154.0	116.0	129.0					14																	100813111		2203	4300	6503	99882864	SO:0001583	missense	7453	exon7			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.798T>G	14.37:g.100813111A>C	ENSP00000347495:p.Ile266Met		99882864	NM_173701	A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	CCDS9960.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.15|15.15	2.749508|2.749508	0.49257|0.49257	.|.	.|.	ENSG00000140105|ENSG00000140105	ENST00000554601|ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645;ENST00000553395	.|T;T;T;T;T;T;T	.|0.73152	.|0.73;0.73;0.73;0.73;0.73;0.73;-0.72	5.79|5.79	-6.74|-6.74	0.01743|0.01743	.|Rossmann-like alpha/beta/alpha sandwich fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79173|0.79173	0.4401|0.4401	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	.|P	.|0.37997	.|0.614	.|P	.|0.47402	.|0.546	T|T	0.80665|0.80665	-0.1281|-0.1281	5|10	.|0.72032	.|D	.|0.01	-1.5755|-1.5755	18.0274|18.0274	0.89273|0.89273	0.1041:0.0:0.8015:0.0944|0.1041:0.0:0.8015:0.0944	.|.	.|266	.|P23381	.|SYWC_HUMAN	C|M	19|266;225;266;225;266;225;225	.|ENSP00000376620:I266M;ENSP00000351481:I225M;ENSP00000347495:I266M;ENSP00000339485:I225M;ENSP00000451460:I266M;ENSP00000451887:I225M;ENSP00000451490:I225M	.|ENSP00000339485:I225M	F|I	-|-	2|3	0|3	WARS|WARS	99882864|99882864	0.822000|0.822000	0.29219|0.29219	0.560000|0.560000	0.28344|0.28344	0.182000|0.182000	0.23217|0.23217	-0.141000|-0.141000	0.10327|0.10327	-1.570000|-1.570000	0.01665|0.01665	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.478	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184	
AHNAK2	113146	broad.mit.edu	37	14	105412824	105412824	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr14:105412824G>A	ENST00000333244.5	-	7	9083	c.8964C>T	c.(8962-8964)ttC>ttT	p.F2988F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2988						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.F2988F(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGACACCCCGAACGACGGCA	0.602																																					p.F2988F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8964T	14						.						267.0	278.0	275.0					14																	105412824		1975	4130	6105	104483869	SO:0001819	synonymous_variant	113146	exon7			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8964C>T	14.37:g.105412824G>A			104483869	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
JMJD7	100137047	broad.mit.edu	37	15	42129061	42129062	+	Frame_Shift_Ins	INS	-	-	T	rs140543634	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:42129061_42129062insT	ENST00000397299.4	+	7	825_826	c.785_786insT	c.(784-789)acggtgfs	p.V263fs	JMJD7-PLA2G4B_ENST00000476036.1_Intron|PLA2G4B_ENST00000458483.1_5'Flank|JMJD7_ENST00000408047.1_Frame_Shift_Ins_p.V164fs|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Intron|PLA2G4B_ENST00000542534.2_Intron	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	263	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.							p.V263fs*5(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						CTTCGCTGCACGGTGCGGGCCG	0.644																																					p.T262fs												.	.	2	Insertion - Frameshift(2)	large_intestine(2)	c.785_786insT	15						.																																			39916354	SO:0001589	frameshift_variant	8681	exon7				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	Exception_encountered	15.37:g.42129061_42129062insT	ENSP00000380467:p.Val263fs		39916353	NM_001114632	A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Frame_Shift_Ins	INS	ENST00000397299.4	37	CCDS45240.1																																																																																				0.644	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632	
OR4N4	283694	broad.mit.edu	37	15	22383256	22383256	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:22383256T>G	ENST00000328795.4	+	1	875	c.784T>G	c.(784-786)Ttc>Gtc	p.F262V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F262V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CATGTGCCCTTTCAGGGCCTT	0.438																																					p.F262V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T784G	15						.						224.0	199.0	207.0					15																	22383256		2188	4262	6450	19884620	SO:0001583	missense	283694	exon1			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.784T>G	15.37:g.22383256T>G	ENSP00000332500:p.Phe262Val		19884620	NM_001005241	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	7.567	0.665956	0.14710	.	.	ENSG00000183706	ENST00000328795	T	0.00063	8.78	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000154	T	0.00241	0.0007	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57435	-0.7812	10	0.18710	T	0.47	-18.0231	6.5379	0.22365	0.0:0.0:0.2485:0.7515	.	262	Q8N0Y3	OR4N4_HUMAN	V	262	ENSP00000332500:F262V	ENSP00000332500:F262V	F	+	1	0	OR4N4	19884620	0.000000	0.05858	0.718000	0.30602	0.024000	0.10985	-0.835000	0.04386	1.454000	0.47793	0.332000	0.21555	TTC		0.438	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
NIPA1	123606	broad.mit.edu	37	15	23048918	23048918	+	Missense_Mutation	SNP	C	C	T	rs561618931		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:23048918C>T	ENST00000337435.4	-	5	925	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	NIPA1_ENST00000437912.2_Missense_Mutation_p.V226I|NIPA1_ENST00000538684.1_Missense_Mutation_p.V131I|NIPA1_ENST00000561183.1_Missense_Mutation_p.V226I	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	301					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.V301I(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCACGGAGACGGTCGTGAAT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		21061	0.0		0.0	False		,,,				2504	0.001				p.V226I												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G676A	15						.						94.0	85.0	88.0					15																	23048918		2203	4300	6503	20600359	SO:0001583	missense	123606	exon5			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.901G>A	15.37:g.23048918C>T	ENSP00000337452:p.Val301Ile		20600359	NM_001142275	B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	7.945	0.743705	0.15642	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.89681	-2.55;-2.55;-2.55	5.74	5.74	0.90152	.	0.176044	0.49305	D	0.000153	T	0.75019	0.3793	N	0.05280	-0.08	0.51767	D	0.99993	P	0.50066	0.931	B	0.42959	0.403	T	0.77459	-0.2580	10	0.02654	T	1	-34.7426	13.1497	0.59482	0.0:0.9273:0.0:0.0727	.	301	Q7RTP0	NIPA1_HUMAN	I	301;226;131	ENSP00000337452:V301I;ENSP00000393962:V226I;ENSP00000440957:V131I	ENSP00000337452:V301I	V	-	1	0	NIPA1	20600359	0.999000	0.42202	0.970000	0.41538	0.887000	0.51463	4.007000	0.57093	2.722000	0.93159	0.591000	0.81541	GTC		0.507	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599	
MAGEL2	54551	broad.mit.edu	37	15	23889902	23889902	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:23889902G>A	ENST00000532292.1	-	1	1273	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	276	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGACACTTGCGACCTCAGACA	0.617																																					p.V996V												.	.	0			c.C2988T	15						.						39.0	40.0	40.0					15																	23889902		1955	4154	6109	21440995	SO:0001819	synonymous_variant	54551	exon1			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1179C>T	15.37:g.23889902G>A			21440995	NM_019066		Silent	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	G	0.013	-1.637772	0.00799	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.76	-0.363	0.12556	.	.	.	.	.	T	0.28962	0.0719	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27938	-1.0059	4	.	.	.	.	5.8956	0.18937	0.2049:0.1609:0.6342:0.0	.	.	.	.	L	425	.	.	S	-	2	0	MAGEL2	21440995	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.643000	0.05421	-0.056000	0.13221	-0.907000	0.02831	TCG		0.617	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
NPAP1	23742	broad.mit.edu	37	15	24921619	24921619	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:24921619G>T	ENST00000329468.2	+	1	1079	c.605G>T	c.(604-606)aGa>aTa	p.R202I		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	202					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R202I(1)									GCCTCCTTCAGATGCAGCCCT	0.587																																					p.R202I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G605T	15						.						40.0	36.0	38.0					15																	24921619		2203	4300	6503	22472712	SO:0001583	missense	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.605G>T	15.37:g.24921619G>T	ENSP00000333735:p.Arg202Ile		22472712	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	0.025	-1.376425	0.01214	.	.	ENSG00000185823	ENST00000329468	T	0.10382	2.88	1.88	-3.77	0.04346	.	3.303040	0.01321	N	0.010938	T	0.04588	0.0125	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.30854	T	0.27	.	3.8641	0.09008	0.2111:0.0:0.4297:0.3592	.	202	Q9NZP6	CO002_HUMAN	I	202	ENSP00000333735:R202I	ENSP00000333735:R202I	R	+	2	0	C15orf2	22472712	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.465000	0.02357	-2.228000	0.00721	-2.351000	0.00242	AGA		0.587	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
NPAP1	23742	broad.mit.edu	37	15	24922383	24922383	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:24922383A>C	ENST00000329468.2	+	1	1843	c.1369A>C	c.(1369-1371)Aca>Cca	p.T457P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	457	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T457P(1)									AATAGCATTCACAATCCCTAA	0.488																																					p.T457P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1369C	15						.						192.0	178.0	183.0					15																	24922383		2203	4300	6503	22473476	SO:0001583	missense	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1369A>C	15.37:g.24922383A>C	ENSP00000333735:p.Thr457Pro		22473476	NM_018958		Missense_Mutation	SNP	ENST00000329468.2	37	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	9.186	1.024711	0.19433	.	.	ENSG00000185823	ENST00000329468	T	0.11495	2.77	1.78	-3.55	0.04639	.	8.432420	0.00166	N	0.000001	T	0.06826	0.0174	N	0.22421	0.69	0.09310	N	1	D	0.58268	0.982	B	0.41332	0.354	T	0.19289	-1.0310	10	0.46703	T	0.11	.	2.1329	0.03754	0.3419:0.0:0.1776:0.4805	.	457	Q9NZP6	CO002_HUMAN	P	457	ENSP00000333735:T457P	ENSP00000333735:T457P	T	+	1	0	C15orf2	22473476	0.001000	0.12720	0.000000	0.03702	0.285000	0.27093	0.320000	0.19540	-0.878000	0.04007	0.260000	0.18958	ACA		0.488	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
NPAP1	23742	broad.mit.edu	37	15	24923027	24923027	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:24923027C>T	ENST00000329468.2	+	1	2487	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	671					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P671P(1)									TGAGCCTTCCCATCATTCCTC	0.512																																					p.P671P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2013T	15						.						177.0	160.0	166.0					15																	24923027		2203	4300	6503	22474120	SO:0001819	synonymous_variant	23742	exon1			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2013C>T	15.37:g.24923027C>T			22474120	NM_018958		Silent	SNP	ENST00000329468.2	37	CCDS10015.1																																																																																				0.512	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
ATP10A	57194	broad.mit.edu	37	15	25947244	25947244	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:25947244G>A	ENST00000356865.6	-	13	2690	c.2579C>T	c.(2578-2580)gCc>gTc	p.A860V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	860					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A860V(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AATCCCAGTGGCACCTGGTCA	0.542																																					p.A860V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2579T	15						.						72.0	70.0	71.0					15																	25947244		2203	4300	6503	23498337	SO:0001583	missense	57194	exon13			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2579C>T	15.37:g.25947244G>A	ENSP00000349325:p.Ala860Val		23498337	NM_024490	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641639	0.67244	.	.	ENSG00000206190	ENST00000356865	T	0.81330	-1.48	5.31	4.39	0.52855	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.045300	0.85682	D	0.000000	T	0.81245	0.4782	L	0.58428	1.81	0.54753	D	0.999981	P	0.44195	0.828	P	0.48524	0.58	T	0.82426	-0.0463	10	0.56958	D	0.05	-36.0385	11.7115	0.51628	0.1409:0.0:0.8591:0.0	.	860	O60312	AT10A_HUMAN	V	860	ENSP00000349325:A860V	ENSP00000349325:A860V	A	-	2	0	ATP10A	23498337	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.492000	0.73654	2.485000	0.83878	0.561000	0.74099	GCC		0.542	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
GABRA5	2558	broad.mit.edu	37	15	27128345	27128345	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:27128345G>A	ENST00000335625.5	+	5	1129	c.241G>A	c.(241-243)Gtc>Atc	p.V81I	GABRA5_ENST00000355395.5_Missense_Mutation_p.V81I|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.V81I|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	81					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.V81I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CGACATCTACGTCACCAGCTT	0.657																																					p.V81I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	15						.						67.0	76.0	73.0					15																	27128345		2123	4219	6342	24679438	SO:0001583	missense	2558	exon5				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.241G>A	15.37:g.27128345G>A	ENSP00000335592:p.Val81Ile		24679438	NM_001165037	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	36	5.918306	0.97105	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.16;-1.31;-1.31;-1.31	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053378	0.85682	D	0.000000	D	0.84270	0.5435	L	0.52206	1.635	0.80722	D	1	D	0.62365	0.991	P	0.57720	0.826	T	0.79948	-0.1588	10	0.19147	T	0.46	.	18.5104	0.90914	0.0:0.0:1.0:0.0	.	81	P31644	GBRA5_HUMAN	I	81;81;49;81;81;81;81;49	ENSP00000335592:V81I;ENSP00000347557:V81I;ENSP00000450653:V49I;ENSP00000382953:V81I;ENSP00000451527:V81I;ENSP00000450806:V81I;ENSP00000450717:V81I;ENSP00000450529:V49I	ENSP00000335592:V81I	V	+	1	0	GABRA5	24679438	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.499000	0.97975	2.690000	0.91761	0.555000	0.69702	GTC		0.657	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1		
HERC2	8924	broad.mit.edu	37	15	28441425	28441425	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:28441425A>G	ENST00000261609.7	-	52	8304	c.8196T>C	c.(8194-8196)tgT>tgC	p.C2732C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.C2732C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACACGTTTCACAAAAATCAA	0.358																																					p.C2732C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T8196C	15						.						15.0	14.0	14.0					15																	28441425		2069	4173	6242	26115020	SO:0001819	synonymous_variant	8924	exon52			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8196T>C	15.37:g.28441425A>G			26115020	NM_004667		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.358	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
TJP1	7082	broad.mit.edu	37	15	29993841	29993841	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:29993841G>A	ENST00000346128.6	-	28	5679	c.5205C>T	c.(5203-5205)ctC>ctT	p.L1735L	TJP1_ENST00000545208.2_Silent_p.L1655L|TJP1_ENST00000400011.2_Silent_p.L1679L|TJP1_ENST00000356107.6_Silent_p.L1755L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1735					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.L1735L(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTGCTCCAACGAGATAATTTG	0.348																																					p.L1655L	Melanoma(77;681 1843 6309 6570)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4965T	15						.						108.0	101.0	103.0					15																	29993841		1834	4080	5914	27781133	SO:0001819	synonymous_variant	7082	exon27				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.5205C>T	15.37:g.29993841G>A			27781133	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	CCDS42007.1																																																																																				0.348	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
TJP1	7082	broad.mit.edu	37	15	30065521	30065521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:30065521G>A	ENST00000346128.6	-	3	598	c.124C>T	c.(124-126)Cga>Tga	p.R42*	TJP1_ENST00000545208.2_Nonsense_Mutation_p.R42*|TJP1_ENST00000400011.2_Nonsense_Mutation_p.R46*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.R42*|TJP1_ENST00000495972.2_Nonsense_Mutation_p.R42*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	42	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R42*(2)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGATTATCTCGTCCACCAGAT	0.373																																					p.R42X	Melanoma(77;681 1843 6309 6570)											.	.	2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)	c.C124T	15						.						151.0	135.0	140.0					15																	30065521		1895	4121	6016	27852813	SO:0001587	stop_gained	7082	exon3				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.124C>T	15.37:g.30065521G>A	ENSP00000281537:p.Arg42*		27852813	NM_175610	B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	37	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534378	0.45073	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.5	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8381	0.57786	0.0:0.0:0.1423:0.8577	.	.	.	.	X	42;46;42;42;42	.	.	R	-	1	2	TJP1	27852813	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	3.241000	0.51376	1.035000	0.39972	-0.485000	0.04761	CGA		0.373	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	
FAN1	22909	broad.mit.edu	37	15	31206141	31206141	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:31206141C>T	ENST00000362065.4	+	5	1949	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	553					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.S553L(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTACTGTTTTCGTTGACCGAC	0.502								Direct reversal of damage																													p.S553L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1658T	15						.						131.0	128.0	129.0					15																	31206141		2202	4300	6502	28993433	SO:0001583	missense	22909	exon5				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1658C>T	15.37:g.31206141C>T	ENSP00000354497:p.Ser553Leu		28993433	NM_014967	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277815	0.59758	.	.	ENSG00000198690	ENST00000362065	T	0.48836	0.8	5.79	4.86	0.63082	.	0.192074	0.46758	D	0.000269	T	0.64505	0.2604	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.64237	0.796;0.923	T	0.63444	-0.6636	10	0.23891	T	0.37	-15.5509	14.631	0.68655	0.1457:0.8543:0.0:0.0	.	553;553	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	L	553	ENSP00000354497:S553L	ENSP00000354497:S553L	S	+	2	0	FAN1	28993433	1.000000	0.71417	0.005000	0.12908	0.180000	0.23129	5.761000	0.68801	1.429000	0.47314	0.563000	0.77884	TCG		0.502	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
FAN1	22909	broad.mit.edu	37	15	31221527	31221527	+	Missense_Mutation	SNP	C	C	T	rs200517390		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:31221527C>T	ENST00000362065.4	+	12	3005	c.2714C>T	c.(2713-2715)aCg>aTg	p.T905M	FAN1_ENST00000568145.1_3'UTR|RP11-540B6.6_ENST00000602886.1_RNA	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	905	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.T905M(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GTGGCAGCCACGTGGCATGAG	0.597								Direct reversal of damage					C|||	1	0.000199681	0.0	0.0	5008	,	,		12779	0.0		0.001	False		,,,				2504	0.0				p.T905M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2714T	15						.						132.0	130.0	131.0					15																	31221527		2202	4300	6502	29008819	SO:0001583	missense	22909	exon12				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2714C>T	15.37:g.31221527C>T	ENSP00000354497:p.Thr905Met		29008819	NM_014967	A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	CCDS32186.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.95	3.263021	0.59431	.	.	ENSG00000198690	ENST00000362065	D	0.86432	-2.12	5.39	2.0	0.26442	VRR-NUC (1);	0.615711	0.17126	N	0.186012	D	0.88276	0.6393	M	0.61703	1.905	0.22954	N	0.99851	D;D	0.62365	0.991;0.984	P;P	0.58454	0.775;0.839	T	0.77882	-0.2422	10	0.46703	T	0.11	-0.5331	5.5175	0.16914	0.0:0.4795:0.0:0.5205	.	905;905	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	M	905	ENSP00000354497:T905M	ENSP00000354497:T905M	T	+	2	0	FAN1	29008819	0.079000	0.21365	0.060000	0.19600	0.836000	0.47400	3.030000	0.49720	0.769000	0.33313	0.650000	0.86243	ACG		0.597	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
TRPM1	4308	broad.mit.edu	37	15	31294541	31294541	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:31294541A>G	ENST00000256552.6	-	28	4509	c.4362T>C	c.(4360-4362)tgT>tgC	p.C1454C	TRPM1_ENST00000397795.2_Silent_p.C1432C|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.C1471C	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.C1432C(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCATTGTTTTACAAGCATTGA	0.443																																					p.C1432C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4296C	15						.						110.0	102.0	104.0					15																	31294541		1847	4095	5942	29081833	SO:0001819	synonymous_variant	4308	exon27			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4362T>C	15.37:g.31294541A>G			29081833	NM_002420		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.443	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
TRPM1	4308	broad.mit.edu	37	15	31295003	31295003	+	Silent	SNP	G	G	A	rs374471543		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:31295003G>A	ENST00000256552.6	-	28	4047	c.3900C>T	c.(3898-3900)aaC>aaT	p.N1300N	TRPM1_ENST00000397795.2_Silent_p.N1278N|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.N1317N	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.N1278N(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTCTTCTCCGTTAAAATGAT	0.468																																					p.N1278N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3834T	15						.	G		0,3956		0,0,1978	77.0	74.0	75.0		3834	-5.1	0.0	15		75	1,8333		0,1,4166	no	coding-synonymous	TRPM1	NM_002420.4		0,1,6144	AA,AG,GG		0.012,0.0,0.0081		1278/1604	31295003	1,12289	1978	4167	6145	29082295	SO:0001819	synonymous_variant	4308	exon27			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3900C>T	15.37:g.31295003G>A			29082295	NM_002420		Silent	SNP	ENST00000256552.6	37	CCDS58346.1																																																																																				0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
FMN1	342184	broad.mit.edu	37	15	33358895	33358895	+	Intron	SNP	C	C	T	rs373784791		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:33358895C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Silent_p.S397S|FMN1_ENST00000334528.9_Silent_p.S397S|FMN1_ENST00000561249.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S397S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGTCTCTGGCGACTTTGGCT	0.587																																					p.S397S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1191A	15						.	C		0,4036		0,0,2018	63.0	65.0	65.0		1191	-11.9	0.1	15		65	1,8351		0,1,4175	no	coding-synonymous	FMN1	NM_001103184.2		0,1,6193	TT,TC,CC		0.012,0.0,0.0081		397/1197	33358895	1,12387	2018	4176	6194	31146187	SO:0001627	intron_variant	342184	exon1			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1620G>A	15.37:g.33358895C>T			31146187	NM_001103184	Q3B7I6|Q3ZAR4|Q6ZSY1	Silent	SNP	ENST00000559047.1	37																																																																																					0.587	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
RYR3	6263	broad.mit.edu	37	15	33988555	33988555	+	Silent	SNP	G	G	A	rs142550033		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:33988555G>A	ENST00000389232.4	+	39	6067	c.5997G>A	c.(5995-5997)gcG>gcA	p.A1999A	RYR3_ENST00000415757.3_Silent_p.A1999A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1999	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.A1999A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCTGCAGGCGCTGCGGAAGA	0.602													g|||	1	0.000199681	0.0	0.0	5008	,	,		17689	0.0		0.001	False		,,,				2504	0.0				p.A1999A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5997A	15						.						81.0	87.0	85.0					15																	33988555		2152	4269	6421	31775847	SO:0001819	synonymous_variant	6263	exon39				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5997G>A	15.37:g.33988555G>A			31775847	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.602	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34040316	34040316	+	Splice_Site	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:34040316A>C	ENST00000389232.4	+	54	8061	c.7991A>C	c.(7990-7992)gAg>gCg	p.E2664A	RYR3_ENST00000415757.3_Splice_Site_p.E2664A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2664	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E2664A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTTCTAGGAGAAGGAAATT	0.547																																					p.E2664A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7991C	15						.						75.0	80.0	78.0					15																	34040316		1968	4159	6127	31827608	SO:0001630	splice_region_variant	6263	exon54				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7990-1A>C	15.37:g.34040316A>C			31827608	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690602	0.88735	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.93604	-3.25;-3.25	5.18	5.18	0.71444	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.90483	3.12	0.80722	D	1	D;D	0.69078	0.987;0.997	D;D	0.72075	0.961;0.976	D	0.97978	1.0347	10	0.87932	D	0	.	15.191	0.73044	1.0:0.0:0.0:0.0	.	2664;2664	Q15413-2;Q15413	.;RYR3_HUMAN	A	2664	ENSP00000373884:E2664A;ENSP00000399610:E2664A	ENSP00000354735:E2664A	E	+	2	0	RYR3	31827608	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.087000	0.94110	2.164000	0.68074	0.533000	0.62120	GAG		0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation
RYR3	6263	broad.mit.edu	37	15	34040439	34040439	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:34040439G>A	ENST00000389232.4	+	54	8184	c.8114G>A	c.(8113-8115)cGa>cAa	p.R2705Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R2705Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2705	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R2705Q(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAAGCTTCGAAGTGTGTCC	0.577																																					p.R2705Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8114A	15						.						62.0	67.0	66.0					15																	34040439		1954	4150	6104	31827731	SO:0001583	missense	6263	exon54				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8114G>A	15.37:g.34040439G>A	ENSP00000373884:p.Arg2705Gln		31827731	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144145	0.77888	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96619	-4.07;-4.07	5.18	5.18	0.71444	.	0.071281	0.56097	D	0.000040	D	0.93148	0.7818	L	0.41492	1.28	0.52099	D	0.999941	B;B	0.27951	0.195;0.019	B;B	0.15870	0.014;0.005	D	0.90695	0.4616	10	0.20519	T	0.43	.	18.8778	0.92345	0.0:0.0:1.0:0.0	.	2705;2705	Q15413-2;Q15413	.;RYR3_HUMAN	Q	2705	ENSP00000373884:R2705Q;ENSP00000399610:R2705Q	ENSP00000354735:R2705Q	R	+	2	0	RYR3	31827731	1.000000	0.71417	0.991000	0.47740	0.897000	0.52465	7.158000	0.77470	2.679000	0.91253	0.655000	0.94253	CGA		0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34130256	34130256	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:34130256C>T	ENST00000389232.4	+	89	12145	c.12075C>T	c.(12073-12075)ttC>ttT	p.F4025F	RYR3_ENST00000415757.3_Silent_p.F4020F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4025					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.F4024F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAAATTACTTCGAACCCTACC	0.468																																					p.F4025F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12075T	15						.						112.0	111.0	112.0					15																	34130256		1947	4153	6100	31917548	SO:0001819	synonymous_variant	6263	exon89				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12075C>T	15.37:g.34130256C>T			31917548	NM_001036	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RYR3	6263	broad.mit.edu	37	15	34150104	34150104	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:34150104G>A	ENST00000389232.4	+	99	14201	c.14131G>A	c.(14131-14133)Gac>Aac	p.D4711N	RP11-3D4.2_ENST00000560268.1_RNA|RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.D4706N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4711					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.D4710N(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAGTGCGACGACATGATGAC	0.597																																					p.D4711N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G14131A	15						.						70.0	70.0	70.0					15																	34150104		2167	4282	6449	31937396	SO:0001583	missense	6263	exon99				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14131G>A	15.37:g.34150104G>A	ENSP00000373884:p.Asp4711Asn		31937396	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862436	0.91511	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.92099	-2.97	4.75	4.75	0.60458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	L	0.35341	1.055	0.58432	D	0.999998	D;D	0.89917	0.964;1.0	P;D	0.97110	0.675;1.0	D	0.92286	0.5837	10	0.32370	T	0.25	.	18.3173	0.90225	0.0:0.0:1.0:0.0	.	4706;4711	Q15413-2;Q15413	.;RYR3_HUMAN	N	4711;4707	ENSP00000373884:D4711N	ENSP00000354735:D4707N	D	+	1	0	RYR3	31937396	1.000000	0.71417	0.974000	0.42286	0.876000	0.50452	9.441000	0.97557	2.624000	0.88883	0.655000	0.94253	GAC		0.597	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
PGBD4	161779	broad.mit.edu	37	15	34395336	34395336	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:34395336C>T	ENST00000397766.2	+	1	1063	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	202								p.R202W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACTTTTGTTTCGGTGCCTGCA	0.398																																					p.R202W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C604T	15						.						116.0	113.0	114.0					15																	34395336		2201	4298	6499	32182628	SO:0001583	missense	161779	exon1			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.604C>T	15.37:g.34395336C>T	ENSP00000380872:p.Arg202Trp		32182628	NM_152595	A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149354	0.57151	.	.	ENSG00000182405	ENST00000397766	T	0.19938	2.11	0.4	0.4	0.16331	.	1.361810	0.06045	N	0.655613	T	0.25568	0.0622	N	0.11284	0.12	0.28031	N	0.934134	D	0.89917	1.0	D	0.87578	0.998	T	0.38308	-0.9667	10	0.87932	D	0	.	6.7335	0.23397	0.0:0.9999:0.0:1.0E-4	.	202	Q96DM1	PGBD4_HUMAN	W	202	ENSP00000380872:R202W	ENSP00000380872:R202W	R	+	1	2	PGBD4	32182628	0.978000	0.34361	0.950000	0.38849	0.972000	0.66771	0.181000	0.16880	0.521000	0.28445	0.282000	0.19409	CGG		0.398	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1		
ZNF770	54989	broad.mit.edu	37	15	35274315	35274315	+	Missense_Mutation	SNP	A	A	G	rs375299960		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:35274315A>G	ENST00000356321.4	-	3	1665	c.1321T>C	c.(1321-1323)Tca>Cca	p.S441P		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	441					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S441P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CCACAGATTGACAAGTCTTTC	0.343																																					p.S441P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1321C	15						.						84.0	86.0	86.0					15																	35274315		2201	4298	6499	33061607	SO:0001583	missense	54989	exon3			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1321T>C	15.37:g.35274315A>G	ENSP00000348673:p.Ser441Pro		33061607	NM_014106	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.597578	0.00857	.	.	ENSG00000198146	ENST00000356321	T	0.10005	2.92	5.17	-4.74	0.03249	.	0.923336	0.08991	N	0.864442	T	0.05410	0.0143	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40553	-0.9557	10	0.36615	T	0.2	-0.6704	3.0846	0.06273	0.3559:0.303:0.2555:0.0856	.	441	Q6IQ21	ZN770_HUMAN	P	441	ENSP00000348673:S441P	ENSP00000348673:S441P	S	-	1	0	ZNF770	33061607	0.001000	0.12720	0.001000	0.08648	0.053000	0.15095	0.241000	0.18065	-0.584000	0.05913	-1.063000	0.02288	TCA		0.343	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106	
MEIS2	4212	broad.mit.edu	37	15	37188856	37188856	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:37188856G>A	ENST00000561208.1	-	10	1427	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	MEIS2_ENST00000338564.5_Missense_Mutation_p.P337S|MEIS2_ENST00000424352.2_Missense_Mutation_p.P337S|MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000444725.1_Missense_Mutation_p.P337S|MEIS2_ENST00000340545.5_Missense_Mutation_p.P324S|MEIS2_ENST00000559085.1_Missense_Mutation_p.P324S|MEIS2_ENST00000382766.2_Missense_Mutation_p.P337S|MEIS2_ENST00000219869.9_Missense_Mutation_p.P191S|MEIS2_ENST00000559561.1_Missense_Mutation_p.P337S|MEIS2_ENST00000397624.3_Missense_Mutation_p.P249S|MEIS2_ENST00000397620.2_Missense_Mutation_p.P249S|MEIS2_ENST00000557796.2_Missense_Mutation_p.P324S			O14770	MEIS2_HUMAN	Meis homeobox 2	337					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.P337S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCAATCATGGGCTGTACTATT	0.408																																					p.P337S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1009T	15						.						174.0	151.0	159.0					15																	37188856		2201	4297	6498	34976148	SO:0001583	missense	4212	exon10			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1009C>T	15.37:g.37188856G>A	ENSP00000453793:p.Pro337Ser		34976148	NM_170676	A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372868	0.82573	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	6.16	6.16	0.99307	Homeobox (2);	0.000000	0.85682	D	0.000000	D	0.92192	0.7524	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.995;0.997;1.0;0.997;1.0;1.0;1.0;0.989;0.995;1.0	P;D;D;D;D;D;D;P;D;D	0.97110	0.893;0.95;1.0;0.95;0.998;1.0;0.999;0.893;0.978;1.0	D	0.91836	0.5479	10	0.87932	D	0	-3.3443	20.8598	0.99761	0.0:0.0:1.0:0.0	.	324;337;337;337;337;191;249;324;324;33	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98;B7Z6F6;Q6V703	.;.;MEIS2_HUMAN;.;.;.;.;.;.;.	S	337;337;337;337;337;324;324;249;191	ENSP00000341400:P337S;ENSP00000372216:P337S;ENSP00000404185:P337S;ENSP00000391887:P337S;ENSP00000339549:P324S;ENSP00000380745:P249S;ENSP00000219869:P191S	ENSP00000219869:P191S	P	-	1	0	MEIS2	34976148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.937000	0.99478	0.650000	0.86243	CCC		0.408	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677	
RASGRP1	10125	broad.mit.edu	37	15	38786739	38786739	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:38786739A>G	ENST00000310803.5	-	16	2280	c.2103T>C	c.(2101-2103)gaT>gaC	p.D701D	RASGRP1_ENST00000539159.1_Silent_p.D653D|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000450598.2_Silent_p.D666D|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000561180.1_Silent_p.D752D	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	701					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.D701D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CATATAGAGTATCCTGGGCTG	0.532																																					p.D701D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2103C	15						.						47.0	48.0	48.0					15																	38786739		1864	4074	5938	36574031	SO:0001819	synonymous_variant	10125	exon16			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.2103T>C	15.37:g.38786739A>G			36574031	NM_005739	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	CCDS45222.1																																																																																				0.532	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739	
KNSTRN	90417	broad.mit.edu	37	15	40685684	40685684	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:40685684G>A	ENST00000249776.8	+	9	952	c.837G>A	c.(835-837)aaG>aaA	p.K279K	KNSTRN_ENST00000416151.2_3'UTR|KNSTRN_ENST00000448395.2_3'UTR|KNSTRN_ENST00000608100.1_Silent_p.K201K	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein									p.K279K(1)									TAAAGGTAAAGCTGGAGATGA	0.383																																					p.K279K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G837A	15						.						154.0	141.0	145.0					15																	40685684		1874	4100	5974	38472976	SO:0001819	synonymous_variant	90417	exon9			AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.837G>A	15.37:g.40685684G>A			38472976	NM_033286		Silent	SNP	ENST00000249776.8	37	CCDS42021.1																																																																																				0.383	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761	
BAHD1	22893	broad.mit.edu	37	15	40751121	40751121	+	Missense_Mutation	SNP	G	G	T	rs373140549		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:40751121G>T	ENST00000416165.1	+	2	529	c.458G>T	c.(457-459)cGc>cTc	p.R153L	BAHD1_ENST00000561234.1_Missense_Mutation_p.R153L|BAHD1_ENST00000560846.1_Missense_Mutation_p.R153L	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	153					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GATCCCCACCGCAGCCGTGAC	0.662																																					p.R153L												.	.	0			c.G458T	15						.						24.0	31.0	29.0					15																	40751121		2189	4280	6469	38538413	SO:0001583	missense	22893	exon2			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.458G>T	15.37:g.40751121G>T	ENSP00000396976:p.Arg153Leu		38538413	NM_014952	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	G	6.718	0.501280	0.12822	.	.	ENSG00000140320	ENST00000416165	T	0.17691	2.26	4.44	4.44	0.53790	.	0.229658	0.36778	N	0.002407	T	0.07728	0.0194	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.28586	-1.0039	10	0.22109	T	0.4	-20.8915	8.1268	0.31003	0.0:0.246:0.5944:0.1596	.	153;153;153	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	L	153	ENSP00000396976:R153L	ENSP00000396976:R153L	R	+	2	0	BAHD1	38538413	0.326000	0.24669	0.996000	0.52242	0.132000	0.20833	3.085000	0.50151	2.746000	0.94184	0.650000	0.86243	CGC		0.662	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
RTF1	23168	broad.mit.edu	37	15	41766885	41766885	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:41766885A>T	ENST00000389629.4	+	9	1283	c.1271A>T	c.(1270-1272)aAa>aTa	p.K424I		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	424	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AGAACAAACAAAGGGCTGCAA	0.517																																					p.K424I												.	.	0			c.A1271T	15						.						157.0	155.0	156.0					15																	41766885		2203	4300	6503	39554177	SO:0001583	missense	23168	exon9			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1271A>T	15.37:g.41766885A>T	ENSP00000374280:p.Lys424Ile		39554177	NM_015138	Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958560	0.92726	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.6	5.6	0.85130	Plus-3 domain, subgroup (1);Plus-3 (2);	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	L	0.53780	1.695	0.80722	D	1	P	0.50369	0.934	D	0.81914	0.995	T	0.69818	-0.5042	9	0.21540	T	0.41	-19.2668	15.7961	0.78412	1.0:0.0:0.0:0.0	.	424	Q92541	RTF1_HUMAN	I	424	.	ENSP00000374280:K424I	K	+	2	0	RTF1	39554177	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.131000	0.65755	0.533000	0.62120	AAA		0.517	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138	
MGA	23269	broad.mit.edu	37	15	42041074	42041074	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:42041074C>T	ENST00000570161.1	+	15	5452	c.5452C>T	c.(5452-5454)Cga>Tga	p.R1818*	MGA_ENST00000545763.1_Nonsense_Mutation_p.R1609*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1609*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R1779*|MGA_ENST00000219905.7_Nonsense_Mutation_p.R1818*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R1867*(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCATCAGCTTCGAGGCTCTAA	0.448																																					p.R1818X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C5452T	15						.						118.0	112.0	114.0					15																	42041074		1930	4150	6080	39828366	SO:0001587	stop_gained	23269	exon16			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5452C>T	15.37:g.42041074C>T	ENSP00000457035:p.Arg1818*		39828366	NM_001164273	Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	36	5.840682	0.97009	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.96	5.04	0.67666	.	0.704526	0.11776	N	0.530607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6831	0.85298	0.1306:0.8694:0.0:0.0	.	.	.	.	X	1818;1779;1609	.	ENSP00000219905:R1818X	R	+	1	2	MGA	39828366	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.360000	0.59455	1.522000	0.49001	-0.169000	0.13324	CGA		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
MAPKBP1	23005	broad.mit.edu	37	15	42110446	42110446	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:42110446C>A	ENST00000456763.2	+	19	2249	c.2053C>A	c.(2053-2055)Ctc>Atc	p.L685I	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.L679I|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.L679I|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.L562I|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.L518I	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	685								p.L679I(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGACAAGAATCTCTCCATTTT	0.547																																					p.L679I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2035A	15						.						131.0	111.0	117.0					15																	42110446		2203	4300	6503	39897738	SO:0001583	missense	23005	exon18			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2053C>A	15.37:g.42110446C>A	ENSP00000393099:p.Leu685Ile		39897738	NM_014994	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	c	11.62	1.691965	0.30052	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.63255	1.72;1.72;1.27;-0.03;1.27	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.110120	0.64402	D	0.000012	T	0.29491	0.0735	N	0.01751	-0.74	0.49389	D	0.999784	P;B;P;B;B	0.46784	0.884;0.037;0.504;0.048;0.08	B;B;B;B;B	0.39152	0.292;0.052;0.141;0.07;0.171	T	0.49380	-0.8946	10	0.05525	T	0.97	-16.3664	12.4281	0.55559	0.0:0.923:0.0:0.077	.	518;562;679;685;679	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	I	679;562;518;685;679	ENSP00000397570:L679I;ENSP00000221214:L562I;ENSP00000260357:L518I;ENSP00000393099:L685I;ENSP00000426154:L679I	ENSP00000221214:L562I	L	+	1	0	MAPKBP1	39897738	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.209000	0.58493	2.493000	0.84123	0.561000	0.74099	CTC		0.547	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
GANC	2595	broad.mit.edu	37	15	42619624	42619624	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:42619624C>T	ENST00000318010.8	+	13	1724	c.1484C>T	c.(1483-1485)gCt>gTt	p.A495V		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	495					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.A495V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AGTCTTTTTGCTTTCCCTGTT	0.383																																					p.A495V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1484T	15						.						269.0	229.0	242.0					15																	42619624		2203	4299	6502	40406916	SO:0001583	missense	2595	exon13			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1484C>T	15.37:g.42619624C>T	ENSP00000326227:p.Ala495Val		40406916	NM_198141	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100753	0.76983	.	.	ENSG00000214013	ENST00000318010	D	0.91351	-2.83	5.32	5.32	0.75619	Glycoside hydrolase, superfamily (1);	0.612942	0.14657	U	0.306206	D	0.89966	0.6868	L	0.42581	1.335	0.49213	D	0.999766	B	0.30870	0.298	B	0.38755	0.281	D	0.88351	0.2981	10	0.59425	D	0.04	-9.5545	17.2103	0.86929	0.0:1.0:0.0:0.0	.	495	Q8TET4	GANC_HUMAN	V	495	ENSP00000326227:A495V	ENSP00000326227:A495V	A	+	2	0	GANC	40406916	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	3.518000	0.53451	2.486000	0.83907	0.650000	0.86243	GCT		0.383	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141	
CAPN3	825	broad.mit.edu	37	15	42702844	42702844	+	Missense_Mutation	SNP	G	G	A	rs587780290		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:42702844G>A	ENST00000397163.3	+	21	2462	c.2243G>A	c.(2242-2244)cGa>cAa	p.R748Q	CAPN3_ENST00000569136.1_Missense_Mutation_p.R83Q|CAPN3_ENST00000397204.4_Missense_Mutation_p.R83Q|CAPN3_ENST00000357568.3_Missense_Mutation_p.R742Q|CAPN3_ENST00000318023.7_Missense_Mutation_p.R742Q|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000356316.3_Missense_Mutation_p.R655Q|CAPN3_ENST00000349748.3_Missense_Mutation_p.R656Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000561817.1_Missense_Mutation_p.R83Q|CAPN3_ENST00000397200.4_Missense_Mutation_p.R236Q|CAPN3_ENST00000337571.4_Missense_Mutation_p.R83Q	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	748	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> Q (in LGMD2A). {ECO:0000269|PubMed:9266733, ECO:0000269|PubMed:9762961}.		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R742Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TACGAGATGCGAAATGCAGTC	0.527																																					p.R83Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G248A	15	GRCh37	CM970224	CAPN3	M		.						59.0	52.0	55.0					15																	42702844		2203	4299	6502	40490136	SO:0001583	missense	825	exon6			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2243G>A	15.37:g.42702844G>A	ENSP00000380349:p.Arg748Gln		40490136	NM_173089	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670031	0.96754	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.1;-0.1	4.54	4.54	0.55810	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80154	0.4571	M	0.64630	1.985	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0;1.0	T	0.82798	-0.0279	10	0.87932	D	0	.	17.5035	0.87738	0.0:0.0:1.0:0.0	.	613;661;83;656;742;748;655	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	Q	655;236;748;742;656;742;236;83;83	ENSP00000348667:R655Q;ENSP00000380349:R748Q;ENSP00000350181:R742Q;ENSP00000183936:R656Q;ENSP00000326281:R742Q;ENSP00000380384:R236Q;ENSP00000336840:R83Q;ENSP00000380387:R83Q	ENSP00000326281:R742Q	R	+	2	0	CAPN3	40490136	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.657000	0.98554	2.356000	0.79943	0.563000	0.77884	CGA		0.527	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1		
UBR1	197131	broad.mit.edu	37	15	43294826	43294826	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:43294826G>A	ENST00000290650.4	-	32	3664	c.3586C>T	c.(3586-3588)Ctt>Ttt	p.L1196F	UBR1_ENST00000568782.1_5'Flank|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1196					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGAGGGCAAAGATATTCTCCA	0.378																																					p.L1196F												.	.	0			c.C3586T	15						.						78.0	74.0	76.0					15																	43294826		2203	4299	6502	41082118	SO:0001583	missense	197131	exon32				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3586C>T	15.37:g.43294826G>A	ENSP00000290650:p.Leu1196Phe		41082118	NM_174916	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415305	0.62511	.	.	ENSG00000159459	ENST00000290650	T	0.61859	0.07	5.29	4.38	0.52667	Zinc finger, RING/FYVE/PHD-type (1);	0.064389	0.64402	N	0.000009	T	0.60392	0.2265	M	0.69523	2.12	0.80722	D	1	P	0.47191	0.891	P	0.44597	0.454	T	0.64206	-0.6462	10	0.42905	T	0.14	-31.7032	14.1431	0.65331	0.0722:0.0:0.9278:0.0	.	1196	Q8IWV7	UBR1_HUMAN	F	1196	ENSP00000290650:L1196F	ENSP00000290650:L1196F	L	-	1	0	UBR1	41082118	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.011000	0.57124	1.468000	0.48064	0.460000	0.39030	CTT		0.378	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916	
TGM7	116179	broad.mit.edu	37	15	43569150	43569150	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:43569150A>G	ENST00000452443.2	-	12	1887	c.1883T>C	c.(1882-1884)gTc>gCc	p.V628A		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	628					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.V628A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGTGAGGGTGACATGGACTCT	0.572																																					p.V628A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1883C	15						.						137.0	114.0	122.0					15																	43569150		2202	4299	6501	41356442	SO:0001583	missense	116179	exon12			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1883T>C	15.37:g.43569150A>G	ENSP00000389466:p.Val628Ala		41356442	NM_052955		Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446210	0.43429	.	.	ENSG00000159495	ENST00000452443	T	0.72835	-0.69	4.89	4.89	0.63831	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.364791	0.25768	N	0.028437	T	0.67757	0.2927	M	0.64997	1.995	0.31394	N	0.677471	B	0.31655	0.334	B	0.31946	0.138	T	0.73990	-0.3808	10	0.56958	D	0.05	-15.5541	12.453	0.55686	1.0:0.0:0.0:0.0	.	628	Q96PF1	TGM7_HUMAN	A	628	ENSP00000389466:V628A	ENSP00000389466:V628A	V	-	2	0	TGM7	41356442	1.000000	0.71417	0.992000	0.48379	0.301000	0.27625	6.713000	0.74686	1.832000	0.53329	0.477000	0.44152	GTC		0.572	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
ZSCAN29	146050	broad.mit.edu	37	15	43661272	43661272	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:43661272C>T	ENST00000396976.2	-	2	506	c.372G>A	c.(370-372)ccG>ccA	p.P124P	ZSCAN29_ENST00000563508.1_5'Flank|ZSCAN29_ENST00000562072.1_Silent_p.P123P|ZSCAN29_ENST00000568898.1_Silent_p.P123P|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank|ZSCAN29_ENST00000396972.1_Silent_p.P124P	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	124					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P124P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTGATGATTTCGGGGGTGTCA	0.527																																					p.P124P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G372A	15						.						93.0	91.0	92.0					15																	43661272		2201	4299	6500	41448564	SO:0001819	synonymous_variant	146050	exon2			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.372G>A	15.37:g.43661272C>T			41448564	NM_152455	B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	ENST00000396976.2	37	CCDS10095.2																																																																																				0.527	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455	
TP53BP1	7158	broad.mit.edu	37	15	43707863	43707863	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:43707863C>A	ENST00000263801.3	-	23	5255	c.5003G>T	c.(5002-5004)aGa>aTa	p.R1668I	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1673I|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1673I|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1623I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1668					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.R1668I(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GATAAGTTTTCTTTTGCCTGA	0.532								Other conserved DNA damage response genes																													p.R1668I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5003T	15						.						151.0	137.0	142.0					15																	43707863		2201	4298	6499	41495155	SO:0001583	missense	7158	exon23			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5003G>T	15.37:g.43707863C>A	ENSP00000263801:p.Arg1668Ile		41495155	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254935	0.95336	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.08282	3.3;3.3;3.42;3.11	5.24	5.24	0.73138	BRCT (1);	0.000000	0.85682	D	0.000000	T	0.27765	0.0683	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.91635	0.991;0.997;0.999;0.999	T	0.00309	-1.1828	10	0.54805	T	0.06	-12.3268	19.1943	0.93681	0.0:1.0:0.0:0.0	.	1673;1668;1673;1673	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	1668;1673;1623;1673	ENSP00000263801:R1668I;ENSP00000371475:R1673I;ENSP00000371470:R1623I;ENSP00000393497:R1673I	ENSP00000263801:R1668I	R	-	2	0	TP53BP1	41495155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.579000	0.74036	2.607000	0.88179	0.563000	0.77884	AGA		0.532	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
TP53BP1	7158	broad.mit.edu	37	15	43730552	43730552	+	Missense_Mutation	SNP	C	C	T	rs200776719		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:43730552C>T	ENST00000263801.3	-	16	3398	c.3146G>A	c.(3145-3147)cGa>cAa	p.R1049Q	TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1054Q|TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1054Q|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1054Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1049					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.R1049Q(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATCCTCACTTCGAGCCTCATT	0.413								Other conserved DNA damage response genes					C|||	1	0.000199681	0.0	0.0	5008	,	,		17703	0.0		0.001	False		,,,				2504	0.0				p.R1049Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3146A	15						.						84.0	81.0	82.0					15																	43730552		2201	4298	6499	41517844	SO:0001583	missense	7158	exon16			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3146G>A	15.37:g.43730552C>T	ENSP00000263801:p.Arg1049Gln		41517844	NM_005657	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.812	1.183319	0.21870	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.09445	3.75;3.75;3.75;3.75;2.98	5.22	-2.88	0.05682	.	1.102930	0.07022	N	0.826983	T	0.05823	0.0152	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.15719	0.014;0.008;0.014;0.014	B;B;B;B	0.06405	0.001;0.001;0.002;0.002	T	0.45934	-0.9227	10	0.10377	T	0.69	5.5279	10.921	0.47165	0.0:0.3783:0.0:0.6217	.	1054;1049;1054;1054	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	Q	1049;1054;1054;1054;1014	ENSP00000263801:R1049Q;ENSP00000371475:R1054Q;ENSP00000371470:R1054Q;ENSP00000393497:R1054Q;ENSP00000388028:R1014Q	ENSP00000263801:R1049Q	R	-	2	0	TP53BP1	41517844	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.266000	0.02842	-0.486000	0.06744	-0.793000	0.03317	CGA		0.413	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
SPG11	80208	broad.mit.edu	37	15	44890524	44890524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:44890524C>A	ENST00000261866.7	-	23	3956	c.3940G>T	c.(3940-3942)Gaa>Taa	p.E1314*	SPG11_ENST00000558319.1_Nonsense_Mutation_p.E1314*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.E1314*|SPG11_ENST00000535302.2_Nonsense_Mutation_p.E1314*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1314					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.E1314*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACAAGCAATTCTTCTGTGGTT	0.368																																					p.E1314X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3940T	15						.						132.0	117.0	122.0					15																	44890524		2198	4298	6496	42677816	SO:0001587	stop_gained	80208	exon23				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3940G>T	15.37:g.44890524C>A	ENSP00000261866:p.Glu1314*		42677816	NM_025137	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	41	9.022663	0.99038	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	16.5413	0.84385	0.0:1.0:0.0:0.0	.	.	.	.	X	1314	.	ENSP00000261866:E1314X	E	-	1	0	SPG11	42677816	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	5.034000	0.64152	2.572000	0.86782	0.563000	0.77884	GAA		0.368	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
TRIM69	140691	broad.mit.edu	37	15	45059608	45059608	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:45059608G>A	ENST00000559390.1	+	8	2069	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	TRIM69_ENST00000558329.1_Missense_Mutation_p.E160K|TRIM69_ENST00000560442.1_Missense_Mutation_p.E177K|TRIM69_ENST00000329464.4_Missense_Mutation_p.E381K|TRIM69_ENST00000558173.1_Missense_Mutation_p.E177K|TRIM69_ENST00000561043.1_Missense_Mutation_p.E144K|TRIM69_ENST00000338264.4_Missense_Mutation_p.E222K			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	381	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E381K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GTGGTACTGGGAAGTAGAAGT	0.468																																					p.E381K	Pancreas(84;519 1450 1802 20427 34706)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1141A	15						.						112.0	116.0	114.0					15																	45059608		2198	4298	6496	42846900	SO:0001583	missense	140691	exon7			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.1141G>A	15.37:g.45059608G>A	ENSP00000453177:p.Glu381Lys		42846900	NM_182985	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	ENST00000559390.1	37	CCDS32220.1	.	.	.	.	.	.	.	.	.	.	G	34	5.313500	0.95655	.	.	ENSG00000185880	ENST00000329464;ENST00000338264	T;T	0.77620	-1.11;-1.11	5.51	5.51	0.81932	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.098773	0.44688	D	0.000430	D	0.92909	0.7744	H	0.98351	4.21	0.53688	D	0.999978	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.983;0.991;0.99	D	0.95323	0.8422	10	0.72032	D	0.01	.	16.9164	0.86153	0.0:0.0:1.0:0.0	.	160;222;381	Q86WT6-4;Q86WT6-2;Q86WT6	.;.;TRI69_HUMAN	K	381;222	ENSP00000332284:E381K;ENSP00000342922:E222K	ENSP00000332284:E381K	E	+	1	0	TRIM69	42846900	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.784000	0.99039	2.593000	0.87608	0.655000	0.94253	GAA		0.468	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1		
DUOX2	50506	broad.mit.edu	37	15	45400290	45400290	+	Missense_Mutation	SNP	C	C	T	rs373873476		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:45400290C>T	ENST00000603300.1	-	13	1731	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	DUOX2_ENST00000389039.6_Missense_Mutation_p.R510Q	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	510	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.R510Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATCCCGCAGCCGTACAAACTG	0.622																																					p.R510Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1529A	15						.	C	GLN/ARG	0,4396		0,0,2198	85.0	87.0	86.0		1529	5.5	1.0	15		86	1,8595	1.2+/-3.3	0,1,4297	no	missense	DUOX2	NM_014080.4	43	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	510/1549	45400290	1,12991	2198	4298	6496	43187582	SO:0001583	missense	50506	exon13			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1529G>A	15.37:g.45400290C>T	ENSP00000475084:p.Arg510Gln		43187582	NM_014080	A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442018	0.96187	0.0	1.16E-4	ENSG00000140279	ENST00000389039	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.84570	0.5501	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86317	0.1690	9	0.56958	D	0.05	-19.0255	18.3206	0.90237	0.0:1.0:0.0:0.0	.	510;72	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	Q	510	.	ENSP00000373691:R510Q	R	-	2	0	DUOX2	43187582	1.000000	0.71417	0.983000	0.44433	0.737000	0.42083	7.622000	0.83099	2.571000	0.86741	0.655000	0.94253	CGG		0.622	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	
FBN1	2200	broad.mit.edu	37	15	48717653	48717653	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:48717653T>C	ENST00000316623.5	-	60	7821	c.7366A>G	c.(7366-7368)Aat>Gat	p.N2456D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2456	EGF-like 42; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.N2456D(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGATAAAATTGCAGGGTTTG	0.433																																					p.N2456D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7366G	15						.						141.0	123.0	129.0					15																	48717653		2198	4296	6494	46504945	SO:0001583	missense	2200	exon60			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7366A>G	15.37:g.48717653T>C	ENSP00000325527:p.Asn2456Asp		46504945	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	32	5.125419	0.94429	.	.	ENSG00000166147	ENST00000316623	D	0.91631	-2.88	5.87	5.87	0.94306	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.156294	0.64402	D	0.000018	D	0.86781	0.6015	N	0.10760	0.04	0.80722	D	1	B	0.34264	0.446	B	0.43331	0.416	D	0.85000	0.0899	10	0.20046	T	0.44	.	15.9181	0.79539	0.0:0.0:0.0:1.0	.	2456	P35555	FBN1_HUMAN	D	2456	ENSP00000325527:N2456D	ENSP00000325527:N2456D	N	-	1	0	FBN1	46504945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.242000	0.73789	0.482000	0.46254	AAT		0.433	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48760266	48760266	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:48760266C>T	ENST00000316623.5	-	38	5071	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1539	TB 6.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R1539Q(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCTCGAGGTCGAATATCCAA	0.438																																					p.R1539Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4616A	15						.						107.0	105.0	106.0					15																	48760266		2198	4296	6494	46547558	SO:0001583	missense	2200	exon38			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4616G>A	15.37:g.48760266C>T	ENSP00000325527:p.Arg1539Gln		46547558	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	8.479	0.859345	0.17178	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.94330	-3.4	5.14	5.14	0.70334	Matrix fibril-associated (2);TGF-beta binding (1);	0.377581	0.28109	N	0.016571	T	0.75027	0.3794	N	0.01168	-0.975	0.20638	N	0.999871	B	0.30104	0.268	B	0.12156	0.007	T	0.65721	-0.6099	10	0.13108	T	0.6	.	6.5554	0.22458	0.0:0.7894:0.0:0.2106	.	1539	P35555	FBN1_HUMAN	Q	1539;107;429	ENSP00000325527:R1539Q	ENSP00000325527:R1539Q	R	-	2	0	FBN1	46547558	0.379000	0.25123	0.843000	0.33291	0.973000	0.67179	0.989000	0.29629	2.684000	0.91462	0.650000	0.86243	CGA		0.438	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48802295	48802295	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:48802295G>T	ENST00000316623.5	-	14	2115	c.1660C>A	c.(1660-1662)Cat>Aat	p.H554N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	554	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.H554N(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACACGCAATGAAAACTGCCA	0.383																																					p.H554N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1660A	15						.						112.0	100.0	104.0					15																	48802295		2197	4296	6493	46589587	SO:0001583	missense	2200	exon14			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1660C>A	15.37:g.48802295G>T	ENSP00000325527:p.His554Asn		46589587	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466057	0.84425	.	.	ENSG00000166147	ENST00000316623	D	0.91521	-2.86	5.5	5.5	0.81552	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	L	0.41027	1.25	0.80722	D	1	P	0.43826	0.818	P	0.47864	0.559	D	0.86221	0.1631	10	0.17369	T	0.5	.	18.3167	0.90224	0.0:0.0:1.0:0.0	.	554	P35555	FBN1_HUMAN	N	554	ENSP00000325527:H554N	ENSP00000325527:H554N	H	-	1	0	FBN1	46589587	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.813000	0.99286	2.736000	0.93811	0.591000	0.81541	CAT		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
FBN1	2200	broad.mit.edu	37	15	48805787	48805787	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:48805787C>T	ENST00000316623.5	-	13	2002	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	516	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R516Q(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATATCCAGCTCGGCACTGACA	0.493																																					p.R516Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1547A	15						.						127.0	103.0	111.0					15																	48805787		2197	4296	6493	46593079	SO:0001583	missense	2200	exon13			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1547G>A	15.37:g.48805787C>T	ENSP00000325527:p.Arg516Gln		46593079	NM_000138	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534728	0.64972	.	.	ENSG00000166147	ENST00000316623	D	0.87029	-2.2	5.78	5.78	0.91487	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.195451	0.46758	D	0.000276	T	0.74794	0.3763	N	0.21617	0.685	0.80722	D	1	P	0.46987	0.888	B	0.37451	0.25	T	0.73871	-0.3846	10	0.09843	T	0.71	.	12.325	0.55005	0.0:0.9236:0.0:0.0764	.	516	P35555	FBN1_HUMAN	Q	516	ENSP00000325527:R516Q	ENSP00000325527:R516Q	R	-	2	0	FBN1	46593079	0.994000	0.37717	0.963000	0.40424	0.994000	0.84299	2.728000	0.47319	2.749000	0.94314	0.655000	0.94253	CGA		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
CEP152	22995	broad.mit.edu	37	15	49048700	49048700	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:49048700T>G	ENST00000380950.2	-	20	2932	c.2745A>C	c.(2743-2745)gaA>gaC	p.E915D	CEP152_ENST00000325747.5_Missense_Mutation_p.E822D|CEP152_ENST00000399334.3_Missense_Mutation_p.E915D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	915					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.E915D(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCCTCATATTTTCAAGCTCAC	0.353																																					p.E915D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2745C	15						.						43.0	41.0	42.0					15																	49048700		1811	4071	5882	46835992	SO:0001583	missense	22995	exon20			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2745A>C	15.37:g.49048700T>G	ENSP00000370337:p.Glu915Asp		46835992	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219743	0.39201	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.55930	0.49;0.49;0.49	5.68	0.396	0.16309	.	0.290081	0.36482	N	0.002579	T	0.37265	0.0997	L	0.27053	0.805	0.09310	N	1	P;P;P	0.45902	0.729;0.868;0.787	B;P;B	0.46585	0.359;0.521;0.367	T	0.24905	-1.0147	10	0.23891	T	0.37	-13.159	6.2561	0.20874	0.0:0.3494:0.1324:0.5182	.	822;915;915	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	D	915;822;915	ENSP00000370337:E915D;ENSP00000321000:E822D;ENSP00000382271:E915D	ENSP00000321000:E822D	E	-	3	2	CEP152	46835992	0.013000	0.17824	0.802000	0.32245	0.953000	0.61014	-0.074000	0.11450	0.152000	0.19188	0.482000	0.46254	GAA		0.353	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
CEP152	22995	broad.mit.edu	37	15	49081034	49081034	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:49081034C>A	ENST00000380950.2	-	9	1324	c.1137G>T	c.(1135-1137)aaG>aaT	p.K379N	CEP152_ENST00000325747.5_Missense_Mutation_p.K286N|CEP152_ENST00000399334.3_Missense_Mutation_p.K379N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	379					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.K379N(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATCCAAATTCTTTTGTAAGG	0.393																																					p.K379N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1137T	15						.						211.0	196.0	201.0					15																	49081034		1924	4135	6059	46868326	SO:0001583	missense	22995	exon9			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1137G>T	15.37:g.49081034C>A	ENSP00000370337:p.Lys379Asn		46868326	NM_001194998	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393864	0.42410	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.79845	-1.31;-1.31;-1.31	5.58	2.54	0.30619	.	0.473490	0.25723	N	0.028735	T	0.74291	0.3697	L	0.51422	1.61	0.31706	N	0.640151	B;B;B	0.17268	0.021;0.005;0.005	B;B;B	0.13407	0.009;0.004;0.004	T	0.70963	-0.4729	10	0.49607	T	0.09	-2.1567	11.9451	0.52924	0.1248:0.6047:0.2705:0.0	.	286;379;379	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	N	379;286;379;379	ENSP00000370337:K379N;ENSP00000321000:K286N;ENSP00000382271:K379N	ENSP00000321000:K286N	K	-	3	2	CEP152	46868326	1.000000	0.71417	0.860000	0.33809	0.957000	0.61999	2.117000	0.41939	0.247000	0.21414	-0.181000	0.13052	AAG		0.393	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
FAM227B	196951	broad.mit.edu	37	15	49663591	49663591	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:49663591C>T	ENST00000299338.6	-	12	1321	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	340								p.D340N(2)									ATATTGAAGTCGATACCTAAA	0.333																																					p.D340N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1018A	15						.						92.0	97.0	95.0					15																	49663591		2196	4289	6485	47450883	SO:0001583	missense	196951	exon12				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.1018G>A	15.37:g.49663591C>T	ENSP00000299338:p.Asp340Asn		47450883	NM_152647	Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784774	0.31593	.	.	ENSG00000166262	ENST00000299338	.	.	.	4.19	2.16	0.27623	.	0.254958	0.28042	N	0.016833	T	0.45955	0.1368	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	P	0.57548	0.823	T	0.35251	-0.9796	9	0.16420	T	0.52	-17.2512	10.2254	0.43222	0.0:0.6048:0.3952:0.0	.	340	Q96M60	CO033_HUMAN	N	340	.	ENSP00000299338:D340N	D	-	1	0	C15orf33	47450883	0.937000	0.31787	0.011000	0.14972	0.528000	0.34623	0.542000	0.23222	0.636000	0.30508	0.650000	0.86243	GAC		0.333	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	
FAM227B	196951	broad.mit.edu	37	15	49833941	49833941	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:49833941C>T	ENST00000299338.6	-	10	1113	c.810G>A	c.(808-810)tcG>tcA	p.S270S	FAM227B_ENST00000561064.1_Silent_p.S236S	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	270								p.S270S(1)									AGAGGTAACTCGATTCTGGAA	0.269																																					p.S270S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G810A	15						.						76.0	81.0	80.0					15																	49833941		2196	4286	6482	47621233	SO:0001819	synonymous_variant	196951	exon10				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.810G>A	15.37:g.49833941C>T			47621233	NM_152647	Q86WS2	Silent	SNP	ENST00000299338.6	37	CCDS32237.1																																																																																				0.269	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	
ATP8B4	79895	broad.mit.edu	37	15	50189523	50189523	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:50189523A>C	ENST00000284509.6	-	23	2804	c.2663T>G	c.(2662-2664)tTc>tGc	p.F888C	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F888C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	888						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F888C(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCAAACCAGAAATGCACAAG	0.338																																					p.F888C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2663G	15						.						101.0	114.0	110.0					15																	50189523		2196	4295	6491	47976815	SO:0001583	missense	79895	exon23			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2663T>G	15.37:g.50189523A>C	ENSP00000284509:p.Phe888Cys		47976815	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.838448	0.51057	.	.	ENSG00000104043	ENST00000284509	D	0.90444	-2.67	5.6	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.93304	0.7866	M	0.89095	3.005	0.54753	D	0.999984	B;B	0.26602	0.084;0.154	B;B	0.40375	0.152;0.327	D	0.91761	0.5420	10	0.87932	D	0	.	10.8811	0.46939	0.8418:0.1582:0.0:0.0	.	108;888	B3KVY8;Q8TF62	.;AT8B4_HUMAN	C	888	ENSP00000284509:F888C	ENSP00000284509:F888C	F	-	2	0	ATP8B4	47976815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.436000	0.80404	0.922000	0.37019	0.533000	0.62120	TTC		0.338	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
ATP8B4	79895	broad.mit.edu	37	15	50223434	50223434	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:50223434G>T	ENST00000284509.6	-	16	1665	c.1524C>A	c.(1522-1524)ttC>ttA	p.F508L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F508L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	508						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F508L(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTTAAAAATGAACCCAAAAT	0.388																																					p.F508L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1524A	15						.						98.0	102.0	100.0					15																	50223434		2196	4295	6491	48010726	SO:0001583	missense	79895	exon16			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1524C>A	15.37:g.50223434G>T	ENSP00000284509:p.Phe508Leu		48010726	NM_024837	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829010	0.71258	.	.	ENSG00000104043	ENST00000284509	T	0.64260	-0.09	5.61	1.09	0.20402	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	M	0.62088	1.915	0.36226	D	0.852292	D	0.89917	1.0	D	0.97110	1.0	T	0.74551	-0.3628	10	0.72032	D	0.01	.	8.2444	0.31680	0.4475:0.0:0.5525:0.0	.	508	Q8TF62	AT8B4_HUMAN	L	508	ENSP00000284509:F508L	ENSP00000284509:F508L	F	-	3	2	ATP8B4	48010726	0.987000	0.35691	0.994000	0.49952	0.977000	0.68977	0.354000	0.20146	0.326000	0.23384	-0.237000	0.12165	TTC		0.388	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
HDC	3067	broad.mit.edu	37	15	50544942	50544942	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:50544942C>T	ENST00000267845.3	-	8	1219	c.817G>A	c.(817-819)Gat>Aat	p.D273N	HDC_ENST00000543581.1_Missense_Mutation_p.D273N	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.D273N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		TAAGCAGCATCGATGTGGAGC	0.582																																					p.D273N	GBM(95;1627 1936 6910 9570)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817A	15						.						38.0	37.0	38.0					15																	50544942		2196	4295	6491	48332234	SO:0001583	missense	3067	exon8				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.817G>A	15.37:g.50544942C>T	ENSP00000267845:p.Asp273Asn		48332234	NM_002112		Missense_Mutation	SNP	ENST00000267845.3	37	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468326	0.96274	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	D;D	0.84516	-1.86;-1.86	4.98	4.98	0.66077	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.100011	0.64402	D	0.000002	D	0.94905	0.8353	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96495	0.9367	10	0.87932	D	0	-17.2681	18.2348	0.89946	0.0:1.0:0.0:0.0	.	273;273	B7ZM01;P19113	.;DCHS_HUMAN	N	273	ENSP00000267845:D273N;ENSP00000440252:D273N	ENSP00000267845:D273N	D	-	1	0	HDC	48332234	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	7.818000	0.86416	2.319000	0.78375	0.561000	0.74099	GAT		0.582	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1		
TRPM7	54822	broad.mit.edu	37	15	50884408	50884408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:50884408C>A	ENST00000313478.7	-	26	4305	c.4024G>T	c.(4024-4026)Gaa>Taa	p.E1342*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.E1342*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1342					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E1342*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAATTAAATTCTTTTCTCTGG	0.398																																					p.E1342X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4024T	15						.						44.0	42.0	43.0					15																	50884408		1801	4071	5872	48671700	SO:0001587	stop_gained	54822	exon26			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4024G>T	15.37:g.50884408C>A	ENSP00000320239:p.Glu1342*		48671700	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Nonsense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	C	44	10.875001	0.99482	.	.	ENSG00000092439	ENST00000313478	.	.	.	5.62	5.62	0.85841	.	1.030950	0.07666	N	0.934646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-9.5468	12.9803	0.58559	0.0:0.9264:0.0:0.0736	.	.	.	.	X	1342	.	ENSP00000320239:E1342X	E	-	1	0	TRPM7	48671700	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.326000	0.43849	2.647000	0.89833	0.644000	0.83932	GAA		0.398	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
TRPM7	54822	broad.mit.edu	37	15	50940919	50940919	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:50940919T>G	ENST00000313478.7	-	4	567	c.286A>C	c.(286-288)Aat>Cat	p.N96H	TRPM7_ENST00000560955.1_Missense_Mutation_p.N96H	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	96					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.N96H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CCTTGAAAATTTATGACTCCA	0.353																																					p.N96H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A286C	15						.						191.0	177.0	181.0					15																	50940919		1820	4084	5904	48728211	SO:0001583	missense	54822	exon4			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.286A>C	15.37:g.50940919T>G	ENSP00000320239:p.Asn96His		48728211	NM_017672	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673268	0.47781	.	.	ENSG00000092439	ENST00000313478	T	0.62364	0.03	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	L	0.37507	1.11	0.48975	D	0.999733	D	0.67145	0.996	P	0.59703	0.862	T	0.70930	-0.4738	10	0.72032	D	0.01	-19.6416	13.7657	0.62992	0.0:0.0:0.0:1.0	.	96	Q96QT4	TRPM7_HUMAN	H	96	ENSP00000320239:N96H	ENSP00000320239:N96H	N	-	1	0	TRPM7	48728211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.744000	0.68664	1.852000	0.53769	0.482000	0.46254	AAT		0.353	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672	
SPPL2A	84888	broad.mit.edu	37	15	51031980	51031980	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:51031980T>G	ENST00000261854.5	-	6	904	c.630A>C	c.(628-630)aaA>aaC	p.K210N		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	210					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)	p.K210N(2)		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)		CTTCCTTCTTTTTCCTCATTT	0.328																																					p.K210N	Melanoma(50;790 1209 4069 22965 33125)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A630C	15						.						131.0	130.0	130.0					15																	51031980		2196	4288	6484	48819272	SO:0001583	missense	84888	exon6				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.630A>C	15.37:g.51031980T>G	ENSP00000261854:p.Lys210Asn		48819272	NM_032802	B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	9.624	1.134680	0.21123	.	.	ENSG00000138600	ENST00000261854	T	0.12569	2.67	5.14	2.77	0.32553	.	0.451849	0.25127	N	0.032938	T	0.11452	0.0279	L	0.42245	1.32	0.32159	N	0.583215	P	0.42161	0.772	B	0.42462	0.388	T	0.16837	-1.0389	10	0.22706	T	0.39	-5.8447	5.68	0.17769	0.0:0.1641:0.1446:0.6914	.	210	Q8TCT8	PSL2_HUMAN	N	210	ENSP00000261854:K210N	ENSP00000261854:K210N	K	-	3	2	AC012100.1	48819272	0.979000	0.34478	0.377000	0.26055	0.408000	0.30992	1.922000	0.40045	0.270000	0.21984	0.459000	0.35465	AAA		0.328	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802	
AP4E1	23431	broad.mit.edu	37	15	51291454	51291454	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:51291454C>A	ENST00000261842.5	+	19	3196	c.3090C>A	c.(3088-3090)ttC>ttA	p.F1030L	AP4E1_ENST00000560508.1_Missense_Mutation_p.F955L|AP4E1_ENST00000561397.1_Intron	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1030					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)		p.F1030L(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TATTAGATTTCATTAGGTAAA	0.333																																					p.F1030L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3090A	15						.						51.0	51.0	51.0					15																	51291454		2195	4292	6487	49078746	SO:0001583	missense	23431	exon19			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3090C>A	15.37:g.51291454C>A	ENSP00000261842:p.Phe1030Leu		49078746	NM_007347	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788798	0.70337	.	.	ENSG00000081014	ENST00000261842	T	0.33438	1.41	5.04	1.45	0.22620	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.32587	-0.9901	10	0.72032	D	0.01	-15.1776	7.4488	0.27227	0.0:0.6772:0.0:0.3228	.	1030	Q9UPM8	AP4E1_HUMAN	L	1030	ENSP00000261842:F1030L	ENSP00000261842:F1030L	F	+	3	2	AP4E1	49078746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.635000	0.24629	0.115000	0.18071	0.655000	0.94253	TTC		0.333	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1		
TNFAIP8L3	388121	broad.mit.edu	37	15	51350429	51350429	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:51350429G>A	ENST00000327536.5	-	3	627	c.528C>T	c.(526-528)atC>atT	p.I176I	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	176								p.I176I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AGAGGATCCCGATTTTGATCG	0.468																																					p.I176I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C528T	15						.						296.0	234.0	255.0					15																	51350429		2196	4293	6489	49137721	SO:0001819	synonymous_variant	388121	exon3			AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.528C>T	15.37:g.51350429G>A			49137721	NM_207381	Q6ZWD1	Silent	SNP	ENST00000327536.5	37	CCDS32241.1																																																																																				0.468	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381	
DMXL2	23312	broad.mit.edu	37	15	51766705	51766705	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:51766705A>G	ENST00000251076.5	-	28	7333	c.7046T>C	c.(7045-7047)gTt>gCt	p.V2349A	DMXL2_ENST00000449909.3_Missense_Mutation_p.V1713A|DMXL2_ENST00000543779.2_Missense_Mutation_p.V2350A|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2349						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.V2349A(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTAAACAGCAACAACAGCTTC	0.388																																					p.V2349A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7046C	15						.						93.0	89.0	90.0					15																	51766705		2196	4293	6489	49553997	SO:0001583	missense	23312	exon28			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7046T>C	15.37:g.51766705A>G	ENSP00000251076:p.Val2349Ala		49553997	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400625	0.83120	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.28255	1.76;1.76;1.62	5.73	5.73	0.89815	.	0.054018	0.64402	D	0.000001	T	0.45013	0.1321	L	0.60845	1.875	0.58432	D	0.999999	D;P;P;P	0.56746	0.977;0.951;0.745;0.761	P;B;B;B	0.53401	0.725;0.444;0.251;0.354	T	0.42327	-0.9458	10	0.66056	D	0.02	.	16.0225	0.80509	1.0:0.0:0.0:0.0	.	2350;1713;2349;2350	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	A	2349;2350;1713	ENSP00000251076:V2349A;ENSP00000441858:V2350A;ENSP00000400855:V1713A	ENSP00000251076:V2349A	V	-	2	0	DMXL2	49553997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.144000	0.77357	2.198000	0.70561	0.533000	0.62120	GTT		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
DMXL2	23312	broad.mit.edu	37	15	51772926	51772926	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:51772926C>T	ENST00000251076.5	-	24	6664	c.6377G>A	c.(6376-6378)cGc>cAc	p.R2126H	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R2126H|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1490H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2126						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.R2126H(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TATTTGATGGCGCTCATAGGA	0.408																																					p.R2126H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6377A	15						.						130.0	122.0	125.0					15																	51772926		2196	4293	6489	49560218	SO:0001583	missense	23312	exon24			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6377G>A	15.37:g.51772926C>T	ENSP00000251076:p.Arg2126His		49560218	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639206	0.87760	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.78126	-1.15;-1.15;-1.15	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.85221	0.5647	L	0.47716	1.5	0.80722	D	1	D;D;D;B	0.89917	1.0;0.999;1.0;0.262	D;D;D;B	0.80764	0.986;0.988;0.994;0.037	T	0.82768	-0.0294	10	0.36615	T	0.2	.	19.9981	0.97395	0.0:1.0:0.0:0.0	.	2126;1490;2126;2126	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	H	2126;2126;1490	ENSP00000251076:R2126H;ENSP00000441858:R2126H;ENSP00000400855:R1490H	ENSP00000251076:R2126H	R	-	2	0	DMXL2	49560218	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	7.559000	0.82265	2.729000	0.93468	0.655000	0.94253	CGC		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
DMXL2	23312	broad.mit.edu	37	15	51783802	51783802	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:51783802A>C	ENST00000251076.5	-	20	5213	c.4926T>G	c.(4924-4926)atT>atG	p.I1642M	DMXL2_ENST00000449909.3_Missense_Mutation_p.I1006M|DMXL2_ENST00000543779.2_Missense_Mutation_p.I1642M|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1642						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.I1642M(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GAAGCGTGTTAATGTTCCTCA	0.383																																					p.I1642M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4926G	15						.						116.0	116.0	116.0					15																	51783802		2195	4293	6488	49571094	SO:0001583	missense	23312	exon20			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4926T>G	15.37:g.51783802A>C	ENSP00000251076:p.Ile1642Met		49571094	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707195	0.30232	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.44083	0.93;0.93;0.93	4.94	0.0398	0.14206	.	0.098628	0.64402	D	0.000002	T	0.55577	0.1929	M	0.79926	2.475	0.39552	D	0.968985	B;D;B	0.60575	0.321;0.988;0.371	B;P;P	0.59288	0.344;0.855;0.558	T	0.57985	-0.7716	10	0.48119	T	0.1	.	9.5918	0.39550	0.5097:0.0:0.4903:0.0	.	1642;1006;1642	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	M	1642;1642;1006	ENSP00000251076:I1642M;ENSP00000441858:I1642M;ENSP00000400855:I1006M	ENSP00000251076:I1642M	I	-	3	3	DMXL2	49571094	1.000000	0.71417	0.990000	0.47175	0.001000	0.01503	2.526000	0.45607	0.035000	0.15519	-0.385000	0.06624	ATT		0.383	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
DMXL2	23312	broad.mit.edu	37	15	51783889	51783889	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:51783889C>A	ENST00000251076.5	-	20	5126	c.4839G>T	c.(4837-4839)ctG>ctT	p.L1613L	DMXL2_ENST00000449909.3_Silent_p.L977L|DMXL2_ENST00000543779.2_Silent_p.L1613L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1613						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.L1613L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCATATTAATCAGTTCTTCTT	0.408																																					p.L1613L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4839T	15						.						98.0	105.0	103.0					15																	51783889		2195	4293	6488	49571181	SO:0001819	synonymous_variant	23312	exon20			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4839G>T	15.37:g.51783889C>A			49571181	NM_015263	B2RTR3|B7ZMH3|F5GWF1|O94938	Silent	SNP	ENST00000251076.5	37	CCDS10141.1																																																																																				0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
SCG3	29106	broad.mit.edu	37	15	51993321	51993321	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:51993321C>A	ENST00000220478.3	+	10	1490	c.1087C>A	c.(1087-1089)Cat>Aat	p.H363N	SCG3_ENST00000542355.2_Missense_Mutation_p.H131N	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	363					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.H363N(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGAGAAGAGTCATGAAGAAAC	0.393																																					p.H363N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1087A	15						.						210.0	199.0	202.0					15																	51993321		2195	4293	6488	49780613	SO:0001583	missense	29106	exon10			AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.1087C>A	15.37:g.51993321C>A	ENSP00000220478:p.His363Asn		49780613	NM_013243	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	C	9.839	1.190601	0.21954	.	.	ENSG00000104112	ENST00000220478;ENST00000542355	T;T	0.21191	2.02;2.02	5.56	5.56	0.83823	.	1.015110	0.07837	N	0.962271	T	0.14356	0.0347	N	0.19112	0.55	0.20926	N	0.99983	B	0.23806	0.091	B	0.18871	0.023	T	0.19160	-1.0314	10	0.15952	T	0.53	-21.7422	9.6665	0.39988	0.1569:0.6915:0.1517:0.0	.	363	Q8WXD2	SCG3_HUMAN	N	363;131	ENSP00000220478:H363N;ENSP00000445205:H131N	ENSP00000220478:H363N	H	+	1	0	SCG3	49780613	0.070000	0.21116	0.998000	0.56505	0.898000	0.52572	1.385000	0.34408	2.595000	0.87683	0.655000	0.94253	CAT		0.393	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243	
LEO1	123169	broad.mit.edu	37	15	52258286	52258286	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:52258286C>A	ENST00000299601.5	-	2	534	c.474G>T	c.(472-474)aaG>aaT	p.K158N	LEO1_ENST00000315141.5_Missense_Mutation_p.K158N	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	158	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)		p.K158N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AATTTTGTATCTTTTCATCAT	0.413																																					p.K158N	Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G474T	15						.						204.0	207.0	206.0					15																	52258286		2195	4293	6488	50045578	SO:0001583	missense	123169	exon2			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.474G>T	15.37:g.52258286C>A	ENSP00000299601:p.Lys158Asn		50045578	NM_138792	Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466050	0.43839	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.59	4.48	0.54585	.	0.314629	0.29424	N	0.012197	T	0.41858	0.1177	N	0.24115	0.695	0.80722	D	1	B;B	0.29646	0.253;0.164	B;B	0.31337	0.128;0.06	T	0.25152	-1.0140	9	0.22706	T	0.39	.	11.7023	0.51577	0.0:0.7938:0.1285:0.0777	.	158;158	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	N	158	.	ENSP00000299601:K158N	K	-	3	2	LEO1	50045578	1.000000	0.71417	0.928000	0.36995	0.829000	0.46940	1.453000	0.35167	2.627000	0.88993	0.655000	0.94253	AAG		0.413	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792	
MYO5C	55930	broad.mit.edu	37	15	52536689	52536689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:52536689G>A	ENST00000261839.7	-	19	2415	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	752	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R752*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTATCCAATCGAAGTTTCTCT	0.418																																					p.R752X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2254T	15						.						87.0	82.0	84.0					15																	52536689		1886	4121	6007	50323981	SO:0001587	stop_gained	55930	exon19			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2254C>T	15.37:g.52536689G>A	ENSP00000261839:p.Arg752*		50323981	NM_018728	Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	41	8.965054	0.99019	.	.	ENSG00000128833	ENST00000261839	.	.	.	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2449	0.60018	0.0:0.0:0.8411:0.1588	.	.	.	.	X	752	.	ENSP00000261839:R752X	R	-	1	2	MYO5C	50323981	1.000000	0.71417	0.868000	0.34077	0.925000	0.55904	3.425000	0.52771	2.634000	0.89283	0.655000	0.94253	CGA		0.418	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
MYO5A	4644	broad.mit.edu	37	15	52681494	52681494	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:52681494G>T	ENST00000399231.3	-	13	1852	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	MYO5A_ENST00000356338.6_Missense_Mutation_p.L537I|MYO5A_ENST00000358212.6_Missense_Mutation_p.L537I|MYO5A_ENST00000399233.2_Missense_Mutation_p.L537I|MYO5A_ENST00000553916.1_Missense_Mutation_p.L537I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	537	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.L537I(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTTTCAAAGAGTGCACATTTG	0.343																																					p.L537I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1609A	15						.						109.0	99.0	102.0					15																	52681494		1839	4093	5932	50468786	SO:0001583	missense	4644	exon13				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1609C>A	15.37:g.52681494G>T	ENSP00000382177:p.Leu537Ile		50468786	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718238	0.68844	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69	5.78	5.78	0.91487	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	L	0.58101	1.795	0.58432	D	0.999999	P;D	0.59767	0.825;0.986	B;P	0.50314	0.374;0.637	D	0.92734	0.6202	10	0.23891	T	0.37	.	13.2437	0.60012	0.0724:0.0:0.9276:0.0	.	537;537	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	I	537;71;537;537;537;167;537	ENSP00000382177:L537I;ENSP00000382179:L537I;ENSP00000348693:L537I;ENSP00000350945:L537I;ENSP00000451109:L537I	ENSP00000348693:L537I	L	-	1	0	MYO5A	50468786	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	5.808000	0.69165	2.734000	0.93682	0.563000	0.77884	CTC		0.343	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
MYO5A	4644	broad.mit.edu	37	15	52702589	52702589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:52702589G>A	ENST00000399231.3	-	6	940	c.697C>T	c.(697-699)Cga>Tga	p.R233*	MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R233*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R233*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R233*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R233*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	233	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R233*(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCAATGATTCGATATCTCTTA	0.378																																					p.R233X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C697T	15						.						134.0	127.0	129.0					15																	52702589		1825	4077	5902	50489881	SO:0001587	stop_gained	4644	exon6				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.697C>T	15.37:g.52702589G>A	ENSP00000382177:p.Arg233*		50489881	NM_000259	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	37	6.105682	0.97286	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	.	.	.	5.47	4.54	0.55810	.	0.119840	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	15.835	0.78791	0.0:0.0:0.8635:0.1365	.	.	.	.	X	233	.	ENSP00000348693:R233X	R	-	1	2	MYO5A	50489881	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.391000	0.52530	1.268000	0.44264	0.655000	0.94253	CGA		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
WDR72	256764	broad.mit.edu	37	15	53908294	53908294	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:53908294A>C	ENST00000396328.1	-	15	2348	c.2109T>G	c.(2107-2109)tcT>tcG	p.S703S	WDR72_ENST00000360509.5_Silent_p.S703S|WDR72_ENST00000557913.1_Silent_p.S700S|WDR72_ENST00000559418.1_Silent_p.S713S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	703								p.S703S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATGAACTGGAAGAGTCAACAT	0.428																																					p.S703S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2109G	15						.						95.0	85.0	89.0					15																	53908294		2194	4292	6486	51695586	SO:0001819	synonymous_variant	256764	exon15			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2109T>G	15.37:g.53908294A>C			51695586	NM_182758	Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	CCDS10151.1																																																																																				0.428	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
WDR72	256764	broad.mit.edu	37	15	53992098	53992098	+	Silent	SNP	G	G	A	rs146989277		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:53992098G>A	ENST00000396328.1	-	13	1853	c.1614C>T	c.(1612-1614)tcC>tcT	p.S538S	WDR72_ENST00000360509.5_Silent_p.S538S|WDR72_ENST00000557913.1_Silent_p.S535S|WDR72_ENST00000559418.1_Silent_p.S548S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	538								p.S538S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGAGAGCCACGGAATGGTCAC	0.443																																					p.S538S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1614T	15						.	G		2,4386	4.2+/-10.8	0,2,2192	114.0	118.0	117.0		1614	-11.4	0.1	15	dbSNP_134	117	0,8586		0,0,4293	no	coding-synonymous	WDR72	NM_182758.2		0,2,6485	AA,AG,GG		0.0,0.0456,0.0154		538/1103	53992098	2,12972	2194	4293	6487	51779390	SO:0001819	synonymous_variant	256764	exon13			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1614C>T	15.37:g.53992098G>A			51779390	NM_182758	Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	CCDS10151.1																																																																																				0.443	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
UNC13C	440279	broad.mit.edu	37	15	54306885	54306885	+	Silent	SNP	G	G	A	rs371937973		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:54306885G>A	ENST00000260323.11	+	1	1785	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A	UNC13C_ENST00000545554.1_Silent_p.A595A|UNC13C_ENST00000537900.1_Silent_p.A595A	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	595					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.A595A(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGGAACAGCGACCCTGTATG	0.458																																					p.A595A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1785A	15						.	G		0,3914		0,0,1957	111.0	107.0	108.0		1785	-7.0	0.0	15		108	1,8285		0,1,4142	no	coding-synonymous	UNC13C	NM_001080534.1		0,1,6099	AA,AG,GG		0.0121,0.0,0.0082		595/2215	54306885	1,12199	1957	4143	6100	52094177	SO:0001819	synonymous_variant	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1785G>A	15.37:g.54306885G>A			52094177	NM_001080534	Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	CCDS45264.1																																																																																				0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UNC13C	440279	broad.mit.edu	37	15	54307601	54307601	+	Missense_Mutation	SNP	G	G	A	rs201822096	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:54307601G>A	ENST00000260323.11	+	1	2501	c.2501G>A	c.(2500-2502)cGg>cAg	p.R834Q	UNC13C_ENST00000545554.1_Missense_Mutation_p.R834Q|UNC13C_ENST00000537900.1_Missense_Mutation_p.R834Q	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	834					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R834Q(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGATTTCGGACATTATCT	0.438													G|||	3	0.000599042	0.0	0.0	5008	,	,		17972	0.003		0.0	False		,,,				2504	0.0				p.R834Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2501A	15						.	G	GLN/ARG	0,3938		0,0,1969	83.0	82.0	83.0		2501	5.7	1.0	15		83	1,8309		0,1,4154	yes	missense	UNC13C	NM_001080534.1	43	0,1,6123	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	834/2215	54307601	1,12247	1969	4155	6124	52094893	SO:0001583	missense	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2501G>A	15.37:g.54307601G>A	ENSP00000260323:p.Arg834Gln		52094893	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	22.9	4.345264	0.82022	0.0	1.2E-4	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85629	-2.01;-2.0;-2.01	5.69	5.69	0.88448	.	.	.	.	.	T	0.81148	0.4762	L	0.29908	0.895	0.46011	D	0.998816	D	0.71674	0.998	P	0.52627	0.704	D	0.84538	0.0637	9	0.56958	D	0.05	.	18.7937	0.91985	0.0:0.0:1.0:0.0	.	834	Q8NB66	UN13C_HUMAN	Q	834	ENSP00000260323:R834Q;ENSP00000438156:R834Q;ENSP00000442569:R834Q	ENSP00000260323:R834Q	R	+	2	0	UNC13C	52094893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.681000	0.91329	0.650000	0.86243	CGG		0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UNC13C	440279	broad.mit.edu	37	15	54307945	54307945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:54307945G>T	ENST00000260323.11	+	1	2845	c.2845G>T	c.(2845-2847)Gaa>Taa	p.E949*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E949*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E949*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	949					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.E949*(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAAATAAGAGAAGATGAAAA	0.408																																					p.E949X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2845T	15						.						69.0	66.0	67.0					15																	54307945		1849	4102	5951	52095237	SO:0001587	stop_gained	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2845G>T	15.37:g.54307945G>T	ENSP00000260323:p.Glu949*		52095237	NM_001080534	Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	42	9.324601	0.99137	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	18.3074	0.90187	0.0:0.0:1.0:0.0	.	.	.	.	X	949	.	ENSP00000260323:E949X	E	+	1	0	UNC13C	52095237	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.471000	0.97696	2.563000	0.86464	0.650000	0.86243	GAA		0.408	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
UNC13C	440279	broad.mit.edu	37	15	54308053	54308053	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:54308053G>C	ENST00000260323.11	+	1	2953	c.2953G>C	c.(2953-2955)Gca>Cca	p.A985P	UNC13C_ENST00000545554.1_Missense_Mutation_p.A985P|UNC13C_ENST00000537900.1_Missense_Mutation_p.A985P	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	985					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.A985P(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGCAAATGGCAGAGTTGGA	0.393																																					p.A985P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2953C	15						.						56.0	55.0	55.0					15																	54308053		1861	4100	5961	52095345	SO:0001583	missense	440279	exon1			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2953G>C	15.37:g.54308053G>C	ENSP00000260323:p.Ala985Pro		52095345	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181688	0.57800	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81163	-1.46;-1.42;-1.46	5.58	5.58	0.84498	.	.	.	.	.	T	0.79633	0.4479	L	0.27053	0.805	0.43032	D	0.994606	D	0.64830	0.994	P	0.58077	0.832	T	0.79242	-0.1884	9	0.41790	T	0.15	.	11.8848	0.52596	0.0883:0.0:0.9117:0.0	.	985	Q8NB66	UN13C_HUMAN	P	985	ENSP00000260323:A985P;ENSP00000438156:A985P;ENSP00000442569:A985P	ENSP00000260323:A985P	A	+	1	0	UNC13C	52095345	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.084000	0.71335	2.635000	0.89317	0.650000	0.86243	GCA		0.393	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
PIGB	9488	broad.mit.edu	37	15	55632894	55632894	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:55632894T>C	ENST00000164305.5	+	8	1222	c.931T>C	c.(931-933)Tac>Cac	p.Y311H	PIGB_ENST00000539642.1_Missense_Mutation_p.Y116H|CCPG1_ENST00000563294.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	311					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.Y311H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATGGCACTGGTACTTCAGTCA	0.423																																					p.Y311H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T931C	15						.						115.0	113.0	114.0					15																	55632894		1882	4102	5984	53420186	SO:0001583	missense	9488	exon8			D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.931T>C	15.37:g.55632894T>C	ENSP00000164305:p.Tyr311His		53420186	NM_004855	Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37		.	.	.	.	.	.	.	.	.	.	T	25.5	4.644087	0.87859	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.72051	-0.62;-0.62	5.94	5.94	0.96194	.	0.058503	0.64402	D	0.000001	D	0.84097	0.5397	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84868	0.0823	10	0.49607	T	0.09	-20.5038	15.5759	0.76387	0.0:0.0:0.0:1.0	.	311	Q92521	PIGB_HUMAN	H	311;116	ENSP00000164305:Y311H;ENSP00000438963:Y116H	ENSP00000164305:Y311H	Y	+	1	0	PIGB	53420186	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.402000	0.79972	2.272000	0.75746	0.459000	0.35465	TAC		0.423	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855	
CCPG1	9236	broad.mit.edu	37	15	55670542	55670542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:55670542C>A	ENST00000310958.6	-	4	506	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	CCPG1_ENST00000569205.1_Nonsense_Mutation_p.E70*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.E70*|CCPG1_ENST00000425574.3_Nonsense_Mutation_p.E70*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	70	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.E70*(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TAAGCAGTTTCTTCCATAAGC	0.333																																					p.E70X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G208T	15						.						92.0	87.0	89.0					15																	55670542		1822	4077	5899	53457834	SO:0001587	stop_gained	9236	exon4			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.208G>T	15.37:g.55670542C>A	ENSP00000311656:p.Glu70*		53457834	NM_004748	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	ENST00000310958.6	37	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429432	0.43122	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	.	.	.	5.7	5.7	0.88788	.	0.470343	0.22910	N	0.054148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	16.5482	0.84454	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000311656:E70X	E	-	1	0	DYX1C1	53457834	0.129000	0.22400	0.232000	0.24009	0.160000	0.22226	2.497000	0.45354	2.692000	0.91855	0.467000	0.42956	GAA		0.333	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748	
PYGO1	26108	broad.mit.edu	37	15	55838285	55838285	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:55838285T>G	ENST00000302000.6	-	3	1290	c.1196A>C	c.(1195-1197)aAa>aCa	p.K399T	PYGO1_ENST00000563719.1_Missense_Mutation_p.K399T	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	399					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K399T(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CTGGACATCTTTGTCAGCCAT	0.433																																					p.K399T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1196C	15						.						117.0	102.0	107.0					15																	55838285		2193	4292	6485	53625577	SO:0001583	missense	26108	exon3			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.1196A>C	15.37:g.55838285T>G	ENSP00000302327:p.Lys399Thr		53625577	NM_015617	A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.315194	0.40996	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.63580	-0.05	5.39	5.39	0.77823	Zinc finger, FYVE/PHD-type (1);	0.056740	0.64402	D	0.000002	T	0.75474	0.3854	M	0.64170	1.965	0.47065	D	0.999304	D;D	0.89917	1.0;0.999	D;D	0.66716	0.946;0.922	T	0.78492	-0.2183	10	0.87932	D	0	-16.3437	14.616	0.68549	0.0:0.0:0.0:1.0	.	399;399	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	T	399	ENSP00000302327:K399T	ENSP00000302327:K399T	K	-	2	0	PYGO1	53625577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.625000	0.61262	2.043000	0.60533	0.482000	0.46254	AAA		0.433	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617	
PRTG	283659	broad.mit.edu	37	15	55965576	55965576	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:55965576G>A	ENST00000389286.4	-	10	1892	c.1845C>T	c.(1843-1845)agC>agT	p.S615S		NM_173814.4	NP_776175.2			protogenin									p.S615S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CACCTTTCACGCTTGTAGCTT	0.378																																					p.S615S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1845T	15						.						54.0	53.0	53.0					15																	55965576		1855	4099	5954	53752868	SO:0001819	synonymous_variant	283659	exon10			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1845C>T	15.37:g.55965576G>A			53752868	NM_173814		Silent	SNP	ENST00000389286.4	37	CCDS42040.1																																																																																				0.378	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814	
PRTG	283659	broad.mit.edu	37	15	55965838	55965838	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:55965838C>T	ENST00000389286.4	-	10	1630	c.1583G>A	c.(1582-1584)cGa>cAa	p.R528Q		NM_173814.4	NP_776175.2			protogenin									p.R528Q(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGTGGGACTTCGACTTGTCAA	0.453																																					p.R528Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1583A	15						.						87.0	90.0	89.0					15																	55965838		1881	4104	5985	53753130	SO:0001583	missense	283659	exon10			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1583G>A	15.37:g.55965838C>T	ENSP00000373937:p.Arg528Gln		53753130	NM_173814		Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296246	0.60086	.	.	ENSG00000166450	ENST00000389286	T	0.56776	0.44	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.143668	0.48286	D	0.000197	T	0.37625	0.1010	L	0.28344	0.845	0.80722	D	1	P	0.51057	0.941	B	0.37731	0.257	T	0.21484	-1.0244	10	0.15066	T	0.55	-8.9519	17.7877	0.88543	0.0:1.0:0.0:0.0	.	528	Q2VWP7	PRTG_HUMAN	Q	528	ENSP00000373937:R528Q	ENSP00000373937:R528Q	R	-	2	0	PRTG	53753130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.705000	0.47127	2.428000	0.82296	0.655000	0.94253	CGA		0.453	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814	
NEDD4	4734	broad.mit.edu	37	15	56155254	56155254	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:56155254T>C	ENST00000508342.1	-	5	2087	c.1788A>G	c.(1786-1788)caA>caG	p.Q596Q	NEDD4_ENST00000435532.3_Silent_p.Q177Q|NEDD4_ENST00000338963.2_Silent_p.Q524Q|NEDD4_ENST00000506154.1_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	596	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.Q177Q(1)|p.Q524Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAGCATCTGGTTGGTCCAAAA	0.413																																					p.Q177Q												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A531G	15						.						95.0	86.0	89.0					15																	56155254		2193	4292	6485	53942546	SO:0001819	synonymous_variant	4734	exon9			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1788A>G	15.37:g.56155254T>C			53942546	NM_006154	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Silent	SNP	ENST00000508342.1	37		.	.	.	.	.	.	.	.	.	.	T	9.386	1.074208	0.20227	.	.	ENSG00000069869	ENST00000508871	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	T	0.71221	0.3314	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70447	-0.4869	4	.	.	.	.	14.9058	0.70718	0.0:0.0:0.0:1.0	.	.	.	.	S	187	.	.	N	-	2	0	NEDD4	53942546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.616000	0.36933	2.110000	0.64415	0.455000	0.32223	AAC		0.413	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
NEDD4	4734	broad.mit.edu	37	15	56208381	56208381	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:56208381G>A	ENST00000508342.1	-	1	948	c.649C>T	c.(649-651)Cca>Tca	p.P217S	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.P217S|NEDD4_ENST00000506154.1_Missense_Mutation_p.P217S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	217					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.P217S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTCCTGTTTGGCACACTTCTA	0.378																																					p.P217S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C649T	15						.						64.0	64.0	64.0					15																	56208381		2193	4291	6484	53995673	SO:0001583	missense	4734	exon1			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.649C>T	15.37:g.56208381G>A	ENSP00000424827:p.Pro217Ser		53995673	NM_198400	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.	.	.	.	.	.	.	.	.	.	G	7.185	0.590357	0.13812	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.41758	0.99;0.99;0.99	5.16	3.12	0.35913	.	2.472990	0.02417	N	0.082162	T	0.36193	0.0958	L	0.29908	0.895	0.09310	N	1	B;B;B	0.32829	0.103;0.063;0.386	B;B;B	0.31101	0.085;0.039;0.124	T	0.38950	-0.9637	10	0.87932	D	0	.	9.7366	0.40392	0.0:0.1319:0.6045:0.2636	.	217;217;217	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	S	217	ENSP00000424827:P217S;ENSP00000345530:P217S;ENSP00000422705:P217S	ENSP00000345530:P217S	P	-	1	0	NEDD4	53995673	0.241000	0.23857	0.229000	0.23960	0.297000	0.27493	0.693000	0.25497	1.291000	0.44653	0.467000	0.42956	CCA		0.378	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400	
MYZAP	100820829	broad.mit.edu	37	15	57931738	57931738	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:57931738G>A	ENST00000267853.5	+	10	1208	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.E372K|GCOM1_ENST00000380560.2_Missense_Mutation_p.E303K|GCOM1_ENST00000380561.2_Missense_Mutation_p.E341K|MYZAP_ENST00000380565.4_Missense_Mutation_p.E372K|GCOM1_ENST00000396180.1_Missense_Mutation_p.E341K|GCOM1_ENST00000572390.1_Missense_Mutation_p.E372K|GCOM1_ENST00000574161.1_Missense_Mutation_p.E372K|GCOM1_ENST00000380569.2_Missense_Mutation_p.E372K|GCOM1_ENST00000587652.1_Missense_Mutation_p.E372K			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	372					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)		p.E372K(1)									GCAGATGGTCGAGGAGGTAAG	0.552																																					p.E372K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1114A	15						.						82.0	74.0	77.0					15																	57931738		2192	4292	6484	55719030	SO:0001583	missense	145781	exon10			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.1114G>A	15.37:g.57931738G>A	ENSP00000267853:p.Glu372Lys		55719030	NM_152451	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064877	0.93898	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568;ENST00000461709	T;T;T;T;T;T;T;T	0.44482	1.22;1.64;1.21;1.18;1.16;1.6;1.18;0.92	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.997;0.999	T	0.65051	-0.6262	10	0.39692	T	0.17	-29.3836	18.4958	0.90864	0.0:0.0:1.0:0.0	.	372;372;372;372	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	K	372;341;341;303;372;372;372;87	ENSP00000369943:E372K;ENSP00000369935:E341K;ENSP00000379483:E341K;ENSP00000369933:E303K;ENSP00000267853:E372K;ENSP00000369939:E372K;ENSP00000369942:E372K;ENSP00000431396:E87K	ENSP00000267853:E372K	E	+	1	0	GCOM1	55719030	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	8.642000	0.91036	2.665000	0.90641	0.650000	0.86243	GAG		0.552	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100	
LIPC	3990	broad.mit.edu	37	15	58830575	58830575	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:58830575G>A	ENST00000356113.6	+	4	747	c.132G>A	c.(130-132)acG>acA	p.T44T	LIPC_ENST00000414170.3_Silent_p.T44T|LIPC_ENST00000433326.2_Silent_p.T44T|LIPC_ENST00000299022.5_Silent_p.T44T			P11150	LIPC_HUMAN	lipase, hepatic	44					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.T44T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAAACAAAACGCTGCATGAGA	0.478																																					p.T44T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G132A	15						.						166.0	165.0	165.0					15																	58830575		2192	4292	6484	56617867	SO:0001819	synonymous_variant	3990	exon2				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.132G>A	15.37:g.58830575G>A			56617867	NM_000236	A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	CCDS10166.1																																																																																				0.478	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1		
CCNB2	9133	broad.mit.edu	37	15	59417044	59417044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:59417044G>A	ENST00000288207.2	+	9	1356	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	RP11-59H7.3_ENST00000559026.1_RNA|CCNB2_ENST00000559622.1_Missense_Mutation_p.D261N	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	389					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.D389N(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						AGCCGTCAAAGACCTTGCCTC	0.473																																					p.D389N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1165A	15						.						87.0	69.0	75.0					15																	59417044		2191	4291	6482	57204336	SO:0001583	missense	9133	exon9			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.1165G>A	15.37:g.59417044G>A	ENSP00000288207:p.Asp389Asn		57204336	NM_004701	B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339927	0.41398	.	.	ENSG00000157456	ENST00000288207	T	0.15017	2.46	5.85	5.85	0.93711	.	0.318283	0.37012	N	0.002300	T	0.20536	0.0494	L	0.51422	1.61	0.44275	D	0.997139	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.01914	-1.1248	10	0.32370	T	0.25	.	19.1657	0.93557	0.0:0.0:1.0:0.0	.	389;389	Q53HG9;O95067	.;CCNB2_HUMAN	N	389	ENSP00000288207:D389N	ENSP00000288207:D389N	D	+	1	0	CCNB2	57204336	1.000000	0.71417	0.481000	0.27354	0.194000	0.23727	5.289000	0.65656	2.771000	0.95319	0.561000	0.74099	GAC		0.473	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1	NM_004701	
ANXA2	302	broad.mit.edu	37	15	60678259	60678259	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:60678259C>T	ENST00000396024.3	-	3	175	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	ANXA2_ENST00000332680.4_Missense_Mutation_p.E24K|ANXA2_ENST00000421017.2_Missense_Mutation_p.E6K|ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000451270.2_Missense_Mutation_p.E6K	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	6	S100A10-binding site. {ECO:0000255}.				angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.E24K(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CACAGGATTTCGTGAACAGTA	0.373																																					p.E24K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70A	15						.						74.0	68.0	70.0					15																	60678259		2203	4300	6503	58465551	SO:0001583	missense	302	exon2			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.16G>A	15.37:g.60678259C>T	ENSP00000379342:p.Glu6Lys		58465551	NM_001002858	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394972	0.62066	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	T;T;T;T	0.02236	4.45;4.38;4.45;4.45	5.64	5.64	0.86602	.	0.000000	0.85682	U	0.000000	T	0.01730	0.0055	N	0.08118	0	0.58432	D	0.999997	P;P;B	0.49783	0.928;0.82;0.036	B;B;B	0.39027	0.288;0.086;0.013	T	0.69191	-0.5210	10	0.52906	T	0.07	.	15.2168	0.73274	0.0:1.0:0.0:0.0	.	6;24;6	B4DNH8;P07355-2;P07355	.;.;ANXA2_HUMAN	K	6;24;6;6	ENSP00000379342:E6K;ENSP00000346032:E24K;ENSP00000411352:E6K;ENSP00000387545:E6K	ENSP00000346032:E24K	E	-	1	0	ANXA2	58465551	0.996000	0.38824	0.985000	0.45067	0.950000	0.60333	4.218000	0.58554	2.673000	0.90976	0.650000	0.86243	GAA		0.373	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857	
VPS13C	54832	broad.mit.edu	37	15	62250897	62250897	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:62250897C>A	ENST00000261517.5	-	37	4148	c.4075G>T	c.(4075-4077)Gat>Tat	p.D1359Y	VPS13C_ENST00000249837.3_Missense_Mutation_p.D1316Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1359Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D1316Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.D1359Y(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGATTAAGATCTTCTTGATTT	0.279																																					p.D1316Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3946T	15						.						103.0	107.0	106.0					15																	62250897		2203	4298	6501	60038189	SO:0001583	missense	54832	exon35			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4075G>T	15.37:g.62250897C>A	ENSP00000261517:p.Asp1359Tyr		60038189	NM_017684		Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977387	0.74360	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.37584	1.19;1.19;1.19;2.15	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	0.998;0.995;1.0;1.0	D;P;D;D	0.91635	0.947;0.897;0.999;0.999	T	0.54990	-0.8210	10	0.66056	D	0.02	.	16.2645	0.82568	0.0:1.0:0.0:0.0	.	1316;1359;1316;1359	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	1316;1359;1359;1359	ENSP00000249837:D1316Y;ENSP00000261517:D1359Y;ENSP00000379233:D1359Y;ENSP00000379235:D1359Y	ENSP00000249837:D1316Y	D	-	1	0	VPS13C	60038189	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.217000	0.51184	2.682000	0.91365	0.467000	0.42956	GAT		0.279	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684	
RPS27L	51065	broad.mit.edu	37	15	63447883	63447883	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:63447883G>T	ENST00000455271.1	-	3	651	c.67C>A	c.(67-69)Ctt>Att	p.L23I	RPS27L_ENST00000559763.1_5'UTR|RPS27L_ENST00000411926.1_Missense_Mutation_p.L23I|RPS27L_ENST00000330964.5_Missense_Mutation_p.L55I|RPS27L_ENST00000462430.1_Missense_Mutation_p.L71I|RPS27L_ENST00000439025.1_Missense_Mutation_p.L55I					ribosomal protein S27-like									p.L55I(1)		large_intestine(1)	1						CCTACACAAAGAACCACTGTC	0.428																																					p.L55I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C163A	15						.						110.0	102.0	104.0					15																	63447883		1900	4119	6019	61234936	SO:0001583	missense	51065	exon3			BC003667	CCDS42048.1	15q21.3	2008-07-18			ENSG00000185088	ENSG00000185088		"""S ribosomal proteins"""	18476	protein-coding gene	gene with protein product		612055				11042152	Standard	NM_015920		Approved		uc002aly.3	Q71UM5	OTTHUMG00000155301	ENST00000455271.1:c.67C>A	15.37:g.63447883G>T	ENSP00000412026:p.Leu23Ile		61234936	NM_015920		Missense_Mutation	SNP	ENST00000455271.1	37		.	.	.	.	.	.	.	.	.	.	G	19.67	3.871346	0.72065	.	.	ENSG00000185088	ENST00000330964;ENST00000455271;ENST00000411926;ENST00000439025	.	.	.	5.64	4.72	0.59763	Ribosomal protein, zinc-binding domain (1);Ribosomal protein S27e, zinc-binding domain (1);	0.071002	0.52532	D	0.000061	T	0.66809	0.2827	.	.	.	0.41184	D	0.986252	P	0.46706	0.883	P	0.55965	0.788	T	0.65026	-0.6268	8	0.37606	T	0.19	.	12.735	0.57218	0.0795:0.0:0.9205:0.0	.	55	Q71UM5	RS27L_HUMAN	I	55;23;23;55	.	ENSP00000331019:L55I	L	-	1	0	RPS27L	61234936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.678000	0.54627	2.664000	0.90586	0.650000	0.86243	CTT		0.428	RPS27L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000339349.2	NM_015920	
USP3	9960	broad.mit.edu	37	15	63880577	63880577	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:63880577G>T	ENST00000380324.3	+	12	1299	c.1170G>T	c.(1168-1170)aaG>aaT	p.K390N	USP3_ENST00000539772.1_Missense_Mutation_p.K141N|USP3_ENST00000559711.1_Missense_Mutation_p.K301N|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.K373N|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000268049.7_Missense_Mutation_p.K368N|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.K346N|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3_ENST00000558218.1_3'UTR	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	390	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K390N(1)		endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AATGCAAAAAGAAACAAAAGT	0.343																																					p.K390N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1170T	15						.						77.0	78.0	78.0					15																	63880577		2203	4300	6503	61667630	SO:0001583	missense	9960	exon12			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1170G>T	15.37:g.63880577G>T	ENSP00000369681:p.Lys390Asn		61667630	NM_006537	B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123093	0.56613	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	5.47	5.47	0.80525	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	M	0.71920	2.185	0.58432	D	0.99999	D;D;D;D	0.71674	0.991;0.998;0.992;0.992	P;D;P;P	0.66602	0.799;0.945;0.873;0.873	T	0.00747	-1.1583	10	0.30854	T	0.27	.	14.8664	0.70419	0.071:0.0:0.929:0.0	.	346;346;368;390	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	N	346;390;368;141;305;221	ENSP00000445828:K346N;ENSP00000369681:K390N;ENSP00000268049:K368N;ENSP00000445642:K141N	ENSP00000268049:K368N	K	+	3	2	USP3	61667630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.829000	0.55760	2.727000	0.93392	0.591000	0.81541	AAG		0.343	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1		
HERC1	8925	broad.mit.edu	37	15	63904453	63904453	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:63904453A>G	ENST00000443617.2	-	77	14484	c.14397T>C	c.(14395-14397)gaT>gaC	p.D4799D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4799	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.D4799D(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TACTTACCCTATCAACCTTCA	0.438																																					p.D4799D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T14397C	15						.						41.0	38.0	39.0					15																	63904453		1957	4153	6110	61691506	SO:0001819	synonymous_variant	8925	exon77			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.14397T>C	15.37:g.63904453A>G			61691506	NM_003922	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.438	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	63984739	63984739	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:63984739C>T	ENST00000443617.2	-	31	5788	c.5701G>A	c.(5701-5703)Gaa>Aaa	p.E1901K	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1901					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E1901K(2)|p.E1901*(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGATGGAGTTCGGCTGCATGT	0.388																																					p.E1901K												HERC1,lung,NS,Substitution - Nonsense,0 	.	3	Substitution - Missense(2)|Substitution - Nonsense(1)	large_intestine(2)|lung(1)	c.G5701A	15						.						50.0	48.0	48.0					15																	63984739		1841	4090	5931	61771792	SO:0001583	missense	8925	exon31			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5701G>A	15.37:g.63984739C>T	ENSP00000390158:p.Glu1901Lys		61771792	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.566668	0.96540	.	.	ENSG00000103657	ENST00000443617	T	0.67345	-0.26	5.73	5.73	0.89815	.	0.000000	0.85682	U	0.000000	T	0.75708	0.3886	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.77253	-0.2656	10	0.72032	D	0.01	.	19.9155	0.97058	0.0:1.0:0.0:0.0	.	1901	Q15751	HERC1_HUMAN	K	1901	ENSP00000390158:E1901K	ENSP00000390158:E1901K	E	-	1	0	HERC1	61771792	1.000000	0.71417	0.991000	0.47740	0.955000	0.61496	7.357000	0.79456	2.699000	0.92147	0.650000	0.86243	GAA		0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
HERC1	8925	broad.mit.edu	37	15	64045284	64045284	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:64045284C>T	ENST00000443617.2	-	8	1862	c.1775G>A	c.(1774-1776)gGt>gAt	p.G592D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	592					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G592D(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACCAAGTTTACCTATAAAAAC	0.338																																					p.G592D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1775A	15						.						50.0	47.0	48.0					15																	64045284		1820	4083	5903	61832337	SO:0001630	splice_region_variant	8925	exon8			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1775-1G>A	15.37:g.64045284C>T			61832337	NM_003922	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	33	5.249644	0.95305	.	.	ENSG00000103657	ENST00000443617	D	0.92699	-3.09	5.56	5.56	0.83823	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	U	0.000000	D	0.97898	0.9309	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98779	1.0731	10	0.87932	D	0	.	19.8925	0.96935	0.0:1.0:0.0:0.0	.	592;592	C9JUT5;Q15751	.;HERC1_HUMAN	D	592	ENSP00000390158:G592D	ENSP00000390158:G592D	G	-	2	0	HERC1	61832337	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.776000	0.85560	2.787000	0.95880	0.650000	0.86243	GGT		0.338	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	Missense_Mutation
DAPK2	23604	broad.mit.edu	37	15	64231444	64231444	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:64231444C>T	ENST00000457488.1	-	5	600	c.570G>A	c.(568-570)acG>acA	p.T190T	DAPK2_ENST00000558069.1_Silent_p.T190T|DAPK2_ENST00000261891.3_Silent_p.T190T|DAPK2_ENST00000558482.1_5'UTR	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	190	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)	p.T190T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CAAATTCCGGCGTCCCAAAAA	0.433																																					p.T190T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G570A	15						.						104.0	99.0	100.0					15																	64231444		2203	4300	6503	62018497	SO:0001819	synonymous_variant	23604	exon5			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.570G>A	15.37:g.64231444C>T			62018497	NM_014326	E9JGM7|O75892|Q24JS1	Silent	SNP	ENST00000457488.1	37	CCDS10188.1																																																																																				0.433	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326	
TRIP4	9325	broad.mit.edu	37	15	64686238	64686238	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:64686238A>C	ENST00000261884.3	+	2	255	c.195A>C	c.(193-195)gaA>gaC	p.E65D	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	65					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E65D(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATTCATAGAAGAACTTATAA	0.368																																					p.E65D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A195C	15						.						92.0	88.0	90.0					15																	64686238		2203	4300	6503	62473291	SO:0001583	missense	9325	exon2			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"""-"""	12310	protein-coding gene	gene with protein product	"""zinc finger, C2HC5-type"""	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.195A>C	15.37:g.64686238A>C	ENSP00000261884:p.Glu65Asp		62473291	NM_016213	B2RAS0|Q96ED7|Q9UKH0	Missense_Mutation	SNP	ENST00000261884.3	37	CCDS10194.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678684	0.68042	.	.	ENSG00000103671	ENST00000261884	T	0.32753	1.44	6.07	2.52	0.30459	.	0.239518	0.48767	N	0.000167	T	0.18045	0.0433	L	0.35723	1.085	0.32878	D	0.510225	B	0.23735	0.09	B	0.19666	0.026	T	0.14448	-1.0472	10	0.27082	T	0.32	-11.7567	2.3155	0.04198	0.6082:0.1313:0.1348:0.1257	.	65	Q15650	TRIP4_HUMAN	D	65	ENSP00000261884:E65D	ENSP00000261884:E65D	E	+	3	2	TRIP4	62473291	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.214000	0.32419	0.181000	0.19994	0.533000	0.62120	GAA		0.368	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256635.2	NM_016213	
PLEKHO2	80301	broad.mit.edu	37	15	65157361	65157361	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:65157361G>T	ENST00000323544.4	+	6	875	c.747G>T	c.(745-747)gaG>gaT	p.E249D	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	249	Pro-rich.							p.E249D(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGACTCAGAGACCCCAGCAG	0.647																																					p.E199D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G597T	15						.						51.0	54.0	53.0					15																	65157361		2202	4299	6501	62944414	SO:0001583	missense	80301	exon5			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.747G>T	15.37:g.65157361G>T	ENSP00000326706:p.Glu249Asp		62944414	NM_001195059	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481717	0.44147	.	.	ENSG00000241839	ENST00000323544	T	0.35789	1.29	5.95	4.86	0.63082	.	0.637282	0.16027	N	0.233030	T	0.40862	0.1134	L	0.32530	0.975	0.29300	N	0.868741	D;D	0.63880	0.993;0.988	P;P	0.60789	0.879;0.76	T	0.24190	-1.0167	10	0.42905	T	0.14	.	7.1208	0.25444	0.1291:0.1694:0.7015:0.0	.	199;249	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	D	249	ENSP00000326706:E249D	ENSP00000326706:E249D	E	+	3	2	PLEKHO2	62944414	0.950000	0.32346	1.000000	0.80357	0.768000	0.43524	1.472000	0.35376	2.824000	0.97209	0.655000	0.94253	GAG		0.647	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201	
MTFMT	123263	broad.mit.edu	37	15	65295576	65295576	+	Nonsense_Mutation	SNP	G	G	A	rs200286768		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:65295576G>A	ENST00000220058.4	-	9	1007	c.994C>T	c.(994-996)Cga>Tga	p.R332*		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	332						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)	p.R332*(2)		endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ATCACTGATCGAACACCAATC	0.378																																					p.R332X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C994T	15						.	G	stop/ARG	0,3728		0,0,1864	73.0	63.0	66.0		994	5.2	0.8	15		66	1,8207		0,1,4103	yes	stop-gained	MTFMT	NM_139242.3		0,1,5967	AA,AG,GG		0.0122,0.0,0.0084		332/390	65295576	1,11935	1864	4104	5968	63082629	SO:0001587	stop_gained	123263	exon9			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.994C>T	15.37:g.65295576G>A	ENSP00000220058:p.Arg332*		63082629	NM_139242	B7Z734	Nonsense_Mutation	SNP	ENST00000220058.4	37	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312305	0.60414	0.0	1.22E-4	ENSG00000103707	ENST00000220058	.	.	.	5.23	5.23	0.72850	.	0.262136	0.35646	N	0.003070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2519	11.7363	0.51767	0.0:0.0:0.8239:0.1761	.	.	.	.	X	332	.	ENSP00000220058:R332X	R	-	1	2	MTFMT	63082629	0.973000	0.33851	0.821000	0.32701	0.603000	0.37013	4.195000	0.58400	2.581000	0.87130	0.591000	0.81541	CGA		0.378	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242	
CILP	8483	broad.mit.edu	37	15	65497662	65497662	+	Silent	SNP	G	G	A	rs146295641	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:65497662G>A	ENST00000261883.4	-	5	733	c.567C>T	c.(565-567)agC>agT	p.S189S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	189	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACCCTCTTCGCTGGCCTCAC	0.617													G|||	10	0.00199681	0.0076	0.0	5008	,	,		20980	0.0		0.0	False		,,,				2504	0.0				p.S189S												.	.	0			c.C567T	15						.	G		26,4376	31.7+/-61.6	0,26,2175	109.0	88.0	95.0		567	-11.1	0.0	15	dbSNP_134	95	0,8598		0,0,4299	no	coding-synonymous	CILP	NM_003613.3		0,26,6474	AA,AG,GG		0.0,0.5906,0.2		189/1185	65497662	26,12974	2201	4299	6500	63284715	SO:0001819	synonymous_variant	8483	exon5			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.567C>T	15.37:g.65497662G>A			63284715	NM_003613	B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	ENST00000261883.4	37	CCDS10203.1																																																																																				0.617	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613	
IGDCC3	9543	broad.mit.edu	37	15	65627716	65627716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:65627716G>A	ENST00000327987.4	-	4	849	c.598C>T	c.(598-600)Cga>Tga	p.R200*	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	200	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.R200*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTCAGCTCGAAGTCCTGTG	0.582																																					p.R200X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C598T	15						.						162.0	142.0	149.0					15																	65627716		2201	4299	6500	63414769	SO:0001587	stop_gained	9543	exon4			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.598C>T	15.37:g.65627716G>A	ENSP00000332773:p.Arg200*		63414769	NM_004884	O95215	Nonsense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858013	0.91433	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	.	.	.	5.51	2.48	0.30137	.	0.075525	0.50627	D	0.000107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.8499	6.7747	0.23613	0.1552:0.0:0.7013:0.1435	.	.	.	.	X	200;63	.	ENSP00000332773:R200X	R	-	1	2	IGDCC3	63414769	0.992000	0.36948	0.174000	0.22961	0.404000	0.30871	2.704000	0.47118	0.692000	0.31613	-0.136000	0.14681	CGA		0.582	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	
DENND4A	10260	broad.mit.edu	37	15	65983311	65983311	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:65983311G>A	ENST00000431932.2	-	22	3697	c.3489C>T	c.(3487-3489)gtC>gtT	p.V1163V	DENND4A_ENST00000443035.3_Silent_p.V1206V|DENND4A_ENST00000567323.1_5'Flank	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1163					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V1165V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATCCTGTTGCGACATCAGTTT	0.403																																					p.V1206V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3618T	15						.						73.0	64.0	67.0					15																	65983311		1864	4106	5970	63770365	SO:0001819	synonymous_variant	10260	exon23			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3489C>T	15.37:g.65983311G>A			63770365	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	CCDS45285.1																																																																																				0.403	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DENND4A	10260	broad.mit.edu	37	15	65983601	65983601	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:65983601G>T	ENST00000431932.2	-	22	3407	c.3199C>A	c.(3199-3201)Ctt>Att	p.L1067I	DENND4A_ENST00000443035.3_Missense_Mutation_p.L1110I|DENND4A_ENST00000567323.1_5'Flank	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1067					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L1069I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ACATTTGAAAGAATTTTTGCA	0.378																																					p.L1110I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3328A	15						.						48.0	44.0	45.0					15																	65983601		1809	4069	5878	63770655	SO:0001583	missense	10260	exon23			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3199C>A	15.37:g.65983601G>T	ENSP00000396830:p.Leu1067Ile		63770655	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568272	0.45798	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.12255	2.7;2.82	5.33	4.35	0.52113	.	0.131252	0.36134	N	0.002762	T	0.18299	0.0439	L	0.54323	1.7	0.44316	D	0.997191	P;P	0.52577	0.954;0.92	B;B	0.43950	0.437;0.386	T	0.01604	-1.1314	10	0.62326	D	0.03	.	15.7821	0.78269	0.0:0.1363:0.8637:0.0	.	1110;1067	E7EPL3;Q7Z401	.;MYCPP_HUMAN	I	1110;1067	ENSP00000391167:L1110I;ENSP00000396830:L1067I	ENSP00000396830:L1067I	L	-	1	0	DENND4A	63770655	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.445000	0.52921	2.664000	0.90586	0.563000	0.77884	CTT		0.378	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DENND4A	10260	broad.mit.edu	37	15	65994168	65994168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:65994168G>A	ENST00000431932.2	-	18	2699	c.2491C>T	c.(2491-2493)Cga>Tga	p.R831*	DENND4A_ENST00000443035.3_Nonsense_Mutation_p.R831*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	831					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R831*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AAAAGCACTCGAACTGCAAGC	0.373																																					p.R831X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2491T	15						.						126.0	120.0	122.0					15																	65994168		1875	4112	5987	63781222	SO:0001587	stop_gained	10260	exon18			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2491C>T	15.37:g.65994168G>A	ENSP00000396830:p.Arg831*		63781222	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	44	10.894536	0.99484	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.72	5.72	0.89469	.	0.052692	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2613	0.66088	0.0:0.0:0.7314:0.2686	.	.	.	.	X	831	.	ENSP00000396830:R831X	R	-	1	2	DENND4A	63781222	0.682000	0.27624	1.000000	0.80357	0.990000	0.78478	0.977000	0.29475	2.698000	0.92095	0.591000	0.81541	CGA		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DENND4A	10260	broad.mit.edu	37	15	66007889	66007889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:66007889C>T	ENST00000431932.2	-	14	2088	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	DENND4A_ENST00000443035.3_Missense_Mutation_p.R627H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	627	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R627H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTCAATGAAGCGAATAAACAT	0.343																																					p.R627H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1880A	15						.						79.0	72.0	74.0					15																	66007889		1830	4083	5913	63794943	SO:0001583	missense	10260	exon14			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1880G>A	15.37:g.66007889C>T	ENSP00000396830:p.Arg627His		63794943	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422484	0.96111	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.45668	0.89;0.89	5.41	5.41	0.78517	dDENN (3);	0.097095	0.64402	D	0.000001	T	0.68476	0.3005	M	0.79926	2.475	0.80722	D	1	P;D;D	0.89917	0.749;1.0;1.0	B;D;D	0.97110	0.26;1.0;0.999	T	0.71354	-0.4618	10	0.56958	D	0.05	.	19.185	0.93639	0.0:1.0:0.0:0.0	.	627;627;627	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	H	627	ENSP00000391167:R627H;ENSP00000396830:R627H	ENSP00000396830:R627H	R	-	2	0	DENND4A	63794943	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.519000	0.84933	0.591000	0.81541	CGC		0.343	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
DENND4A	10260	broad.mit.edu	37	15	66048662	66048662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:66048662C>A	ENST00000431932.2	-	3	335	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	DENND4A_ENST00000443035.3_Nonsense_Mutation_p.E43*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	43	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E43*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTAATAGGTTCTTTTGGTTTA	0.373																																					p.E43X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G127T	15						.						72.0	69.0	70.0					15																	66048662		1826	4074	5900	63835716	SO:0001587	stop_gained	10260	exon3			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.127G>T	15.37:g.66048662C>A	ENSP00000396830:p.Glu43*		63835716	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	39	7.770698	0.98480	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.6	5.6	0.85130	.	0.055271	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	.	.	.	X	43	.	ENSP00000396830:E43X	E	-	1	0	DENND4A	63835716	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.630000	0.89119	0.591000	0.81541	GAA		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
ZWILCH	55055	broad.mit.edu	37	15	66807882	66807882	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:66807882A>G	ENST00000307897.5	+	4	600	c.220A>G	c.(220-222)Aca>Gca	p.T74A	ZWILCH_ENST00000565960.1_3'UTR|RPL4_ENST00000564517.1_Intron|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_5'UTR|ZWILCH_ENST00000535141.2_5'UTR|ZWILCH_ENST00000446801.2_5'UTR	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	74					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.T74A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AAAGGAAGAAACAAGTCATAT	0.353																																					p.T74A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A220G	15						.						77.0	76.0	76.0					15																	66807882		2201	4299	6500	64594936	SO:0001583	missense	55055	exon4			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.220A>G	15.37:g.66807882A>G	ENSP00000311429:p.Thr74Ala		64594936	NM_017975	B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	A	9.892	1.204556	0.22205	.	.	ENSG00000174442	ENST00000307897	T	0.41758	0.99	5.36	0.415	0.16411	.	0.741018	0.12687	N	0.447470	T	0.22003	0.0530	N	0.20685	0.6	0.46458	D	0.999056	B	0.06786	0.001	B	0.06405	0.002	T	0.08659	-1.0711	10	0.23302	T	0.38	-0.0529	4.1656	0.10305	0.5582:0.1714:0.2704:0.0	.	74	Q9H900	ZWILC_HUMAN	A	74	ENSP00000311429:T74A	ENSP00000311429:T74A	T	+	1	0	ZWILCH	64594936	0.768000	0.28519	0.603000	0.28903	0.904000	0.53231	0.361000	0.20267	0.034000	0.15491	0.528000	0.53228	ACA		0.353	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975	
CORO2B	10391	broad.mit.edu	37	15	69006921	69006921	+	Silent	SNP	C	C	T	rs372424321		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:69006921C>T	ENST00000566799.1	+	7	818	c.789C>T	c.(787-789)atC>atT	p.I263I	CORO2B_ENST00000540068.1_Silent_p.I258I|CORO2B_ENST00000543950.1_Silent_p.I258I|CORO2B_ENST00000261861.5_Silent_p.I258I			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	263					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.I263I(3)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCCCCTGATCGAAGAGGAAA	0.577																																					p.I263I												.	.	3	Substitution - coding silent(3)	large_intestine(2)|kidney(1)	c.C789T	15						.						151.0	139.0	143.0					15																	69006921		2200	4298	6498	66793975	SO:0001819	synonymous_variant	10391	exon7			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.789C>T	15.37:g.69006921C>T			66793975	NM_006091	A8K0W3|O94767|Q8TAN1	Silent	SNP	ENST00000566799.1	37	CCDS10229.2																																																																																				0.577	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091	
UACA	55075	broad.mit.edu	37	15	70959098	70959098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:70959098C>A	ENST00000322954.6	-	16	4110	c.3925G>T	c.(3925-3927)Gaa>Taa	p.E1309*	UACA_ENST00000539319.1_Nonsense_Mutation_p.E1200*|UACA_ENST00000379983.2_Nonsense_Mutation_p.E1296*|UACA_ENST00000560441.1_Nonsense_Mutation_p.E1294*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1309					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E1296*(2)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTAGCAGATTCTTGTATTCTT	0.383																																					p.E1309X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3925T	15						.						163.0	130.0	141.0					15																	70959098		2199	4298	6497	68746152	SO:0001587	stop_gained	55075	exon16			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3925G>T	15.37:g.70959098C>A	ENSP00000314556:p.Glu1309*		68746152	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Nonsense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	40	8.242055	0.98722	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	.	.	.	5.85	5.85	0.93711	.	0.182125	0.38326	N	0.001730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-19.8524	14.9374	0.70967	0.1429:0.8571:0.0:0.0	.	.	.	.	X	1309;1296;1200	.	ENSP00000314556:E1309X	E	-	1	0	UACA	68746152	1.000000	0.71417	0.992000	0.48379	0.804000	0.45430	2.690000	0.47001	2.767000	0.95098	0.655000	0.94253	GAA		0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
UACA	55075	broad.mit.edu	37	15	70975129	70975129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:70975129C>A	ENST00000322954.6	-	9	975	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	UACA_ENST00000559183.1_5'UTR|UACA_ENST00000539319.1_Intron|UACA_ENST00000379983.2_Nonsense_Mutation_p.E251*|UACA_ENST00000560441.1_Nonsense_Mutation_p.E251*	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	264					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E251*(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCCAAAGTTCTCTCCCTAAG	0.299																																					p.E264X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G790T	15						.						39.0	40.0	40.0					15																	70975129		2199	4297	6496	68762183	SO:0001587	stop_gained	55075	exon9			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.790G>T	15.37:g.70975129C>A	ENSP00000314556:p.Glu264*		68762183	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Nonsense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	40	8.118310	0.98662	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362	.	.	.	5.69	4.72	0.59763	.	0.349082	0.24611	N	0.037041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-28.8188	11.8154	0.52207	0.0:0.8237:0.1763:0.0	.	.	.	.	X	264;251;251	.	ENSP00000314556:E264X	E	-	1	0	UACA	68762183	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.021000	0.41020	2.692000	0.91855	0.555000	0.69702	GAA		0.299	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
UACA	55075	broad.mit.edu	37	15	70976763	70976763	+	Missense_Mutation	SNP	C	C	T	rs368611824		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:70976763C>T	ENST00000322954.6	-	8	810	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	UACA_ENST00000559183.1_5'Flank|UACA_ENST00000539319.1_Intron|UACA_ENST00000379983.2_Missense_Mutation_p.E196K|UACA_ENST00000560441.1_Missense_Mutation_p.E196K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	209					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E196K(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CAACCATATTCGCAACCTAGC	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23188	0.0		0.0	False		,,,				2504	0.0				p.E209K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G625A	15						.	C	LYS/GLU,LYS/GLU	1,4397	2.1+/-5.4	0,1,2198	139.0	134.0	135.0		586,625	5.4	1.0	15		135	0,8594		0,0,4297	no	missense,missense	UACA	NM_001008224.1,NM_018003.2	56,56	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	196/1404,209/1417	70976763	1,12991	2199	4297	6496	68763817	SO:0001583	missense	55075	exon8			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.625G>A	15.37:g.70976763C>T	ENSP00000314556:p.Glu209Lys		68763817	NM_018003	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205087	0.95033	2.27E-4	0.0	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362	T;T	0.65178	-0.14;-0.14	5.4	5.4	0.78164	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000034	T	0.69842	0.3156	N	0.21282	0.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.73814	-0.3864	10	0.87932	D	0	-27.6363	18.5283	0.90981	0.0:1.0:0.0:0.0	.	209;209;196	B7ZKM6;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	K	209;196;196	ENSP00000314556:E209K;ENSP00000369319:E196K	ENSP00000314556:E209K	E	-	1	0	UACA	68763817	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	6.097000	0.71452	2.695000	0.91970	0.462000	0.41574	GAA		0.388	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
CTD-2524L6.3	0	broad.mit.edu	37	15	72109951	72109951	+	RNA	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:72109951G>A	ENST00000563041.1	+	0	0				NR2E3_ENST00000398840.2_RNA|CTD-2524L6.3_ENST00000561834.1_RNA|CTD-2524L6.3_ENST00000562658.1_RNA														p.E299K(1)									GGAACGCATCGAGCTCCTCTT	0.483																																					p.R387Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1160A	15						.						104.0	105.0	105.0					15																	72109951		1901	4119	6020	69897005			10002	exon8																															15.37:g.72109951G>A			69897005	NM_014249		Missense_Mutation	SNP	ENST00000563041.1	37		.	.	.	.	.	.	.	.	.	.	G	15.82	2.946348	0.53079	.	.	ENSG00000031544	ENST00000326995	.	.	.	5.3	5.3	0.74995	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.82907	0.5139	.	.	.	0.54753	D	0.999988	D	0.89917	1.0	D	0.80764	0.994	D	0.85382	0.1120	7	0.87932	D	0	.	17.7463	0.88422	0.0:0.0:1.0:0.0	.	387	Q9Y5X4	NR2E3_HUMAN	K	299	.	ENSP00000317199:E299K	E	+	1	0	NR2E3	69897005	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	9.215000	0.95146	2.474000	0.83562	0.563000	0.77884	GAG		0.483	CTD-2524L6.3-002	KNOWN	basic	antisense	antisense	OTTHUMT00000420826.1		
MYO9A	4649	broad.mit.edu	37	15	72190968	72190968	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:72190968A>G	ENST00000356056.5	-	25	4348	c.3876T>C	c.(3874-3876)gtT>gtC	p.V1292V	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.V1292V|MYO9A_ENST00000444904.1_Silent_p.V1273V|MYO9A_ENST00000566885.1_Silent_p.V912V|MYO9A_ENST00000424560.1_Silent_p.V1292V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1292	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.V1292V(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAAGAGAACGAACTTTCAGCA	0.458																																					p.V1292V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3876C	15						.						121.0	115.0	117.0					15																	72190968		2199	4297	6496	69978022	SO:0001819	synonymous_variant	4649	exon25			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3876T>C	15.37:g.72190968A>G			69978022	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																				0.458	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72191194	72191194	+	Missense_Mutation	SNP	C	C	T	rs193029114		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:72191194C>T	ENST00000356056.5	-	25	4122	c.3650G>A	c.(3649-3651)cGa>cAa	p.R1217Q	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1217Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1198Q|MYO9A_ENST00000566885.1_Missense_Mutation_p.R837Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1217Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1217	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.R1217Q(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACGGCTAATTCGATTACTCTC	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		17659	0.001		0.0	False		,,,				2504	0.0				p.R1217Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3650A	15						.						161.0	152.0	155.0					15																	72191194		2199	4297	6496	69978248	SO:0001583	missense	4649	exon25			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3650G>A	15.37:g.72191194C>T	ENSP00000348349:p.Arg1217Gln		69978248	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.96	2.691851	0.48097	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.86164	-2.08;-2.04;-2.08	4.91	3.99	0.46301	.	.	.	.	.	T	0.76849	0.4045	N	0.24115	0.695	0.33843	D	0.631631	B;B	0.25743	0.108;0.133	B;B	0.15484	0.013;0.005	T	0.75252	-0.3383	9	0.23891	T	0.37	.	11.2971	0.49284	0.0:0.9155:0.0:0.0845	.	1198;1217	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	Q	1217;1217;1198	ENSP00000348349:R1217Q;ENSP00000399162:R1217Q;ENSP00000398250:R1198Q	ENSP00000348349:R1217Q	R	-	2	0	MYO9A	69978248	0.942000	0.31987	0.945000	0.38365	0.893000	0.52053	1.907000	0.39897	1.071000	0.40834	0.585000	0.79938	CGA		0.453	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
MYO9A	4649	broad.mit.edu	37	15	72320121	72320121	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:72320121T>G	ENST00000356056.5	-	4	1421	c.949A>C	c.(949-951)Aaa>Caa	p.K317Q	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.K317Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.K317Q|MYO9A_ENST00000566885.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.K317Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	317	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.K317Q(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGTAGATATTTTTCAACATAG	0.289																																					p.K317Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A949C	15						.						86.0	84.0	85.0					15																	72320121		2199	4297	6496	70107175	SO:0001583	missense	4649	exon4			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.949A>C	15.37:g.72320121T>G	ENSP00000348349:p.Lys317Gln		70107175	NM_006901	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273671	0.59649	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87650	-2.28;-2.28;-2.28	4.82	4.82	0.62117	Myosin head, motor domain (2);	.	.	.	.	D	0.87047	0.6080	N	0.21373	0.66	0.80722	D	1	P;P;P	0.47191	0.821;0.891;0.875	P;P;P	0.59424	0.721;0.795;0.857	D	0.87268	0.2284	9	0.44086	T	0.13	.	13.6645	0.62387	0.0:0.0:0.0:1.0	.	317;317;317	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Q	317	ENSP00000348349:K317Q;ENSP00000399162:K317Q;ENSP00000398250:K317Q	ENSP00000261864:K317Q	K	-	1	0	MYO9A	70107175	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.661000	0.83786	1.908000	0.55244	0.379000	0.24179	AAA		0.289	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
CELF6	60677	broad.mit.edu	37	15	72580787	72580787	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:72580787C>T	ENST00000569547.1	-	11	1251	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.E281K|CELF6_ENST00000567083.1_Missense_Mutation_p.E367K|CELF6_ENST00000569311.1_5'Flank|CELF6_ENST00000287202.5_Missense_Mutation_p.E394K|CELF6_ENST00000543764.2_Missense_Mutation_p.E257K|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_Missense_Mutation_p.E255K			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	394					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E394K(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TTACAGCCTTCGGGGCCTGGA	0.562																																					p.E367K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1099A	15						.						89.0	89.0	89.0					15																	72580787		2199	4297	6496	70367841	SO:0001583	missense	60677	exon10			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1180G>A	15.37:g.72580787C>T	ENSP00000454749:p.Glu394Lys		70367841	NM_001172684	B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640453	0.67244	.	.	ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764;ENST00000379915;ENST00000395258;ENST00000539635	T;T;T;T	0.61158	0.13;3.4;0.13;0.13	5.61	5.61	0.85477	Nucleotide-binding, alpha-beta plait (1);	0.168676	0.37809	U	0.001923	T	0.81484	0.4832	M	0.91090	3.175	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.994;0.99;0.61;0.994	D;D;P;B;D	0.71184	0.972;0.966;0.835;0.359;0.966	D	0.85068	0.0938	10	0.87932	D	0	-8.659	18.5682	0.91124	0.0:1.0:0.0:0.0	.	367;257;281;255;394	B4DJB6;B4DG28;Q96J87-2;B3KWE6;Q96J87	.;.;.;.;CELF6_HUMAN	K	394;367;257;218;281;255	ENSP00000287202:E394K;ENSP00000439956:E257K;ENSP00000378677:E281K;ENSP00000443162:E255K	ENSP00000287202:E394K	E	-	1	0	CELF6	70367841	1.000000	0.71417	0.998000	0.56505	0.719000	0.41307	7.776000	0.85560	2.799000	0.96334	0.650000	0.86243	GAA		0.562	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840	
TMEM202	338949	broad.mit.edu	37	15	72700038	72700038	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:72700038T>A	ENST00000341689.3	+	5	680	c.626T>A	c.(625-627)aTc>aAc	p.I209N	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	209						integral component of membrane (GO:0016021)		p.I209N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GTAGGGATCATCTCTCTTCTC	0.438																																					p.I209N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T626A	15						.						71.0	72.0	72.0					15																	72700038		2199	4297	6496	70487092	SO:0001583	missense	338949	exon5				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.626T>A	15.37:g.72700038T>A	ENSP00000340212:p.Ile209Asn		70487092	NM_001080462		Missense_Mutation	SNP	ENST00000341689.3	37	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536645	0.27475	.	.	ENSG00000187806	ENST00000341689	T	0.69175	-0.38	4.61	4.61	0.57282	.	0.529823	0.17279	N	0.180090	T	0.71467	0.3343	L	0.53249	1.67	0.80722	D	1	P	0.51537	0.946	P	0.54629	0.757	T	0.73672	-0.3909	10	0.87932	D	0	-6.8518	10.3203	0.43762	0.0:0.0:0.0:1.0	.	209	A6NGA9	TM202_HUMAN	N	209	ENSP00000340212:I209N	ENSP00000340212:I209N	I	+	2	0	TMEM202	70487092	0.384000	0.25164	0.901000	0.35422	0.222000	0.24845	2.981000	0.49329	1.935000	0.56089	0.459000	0.35465	ATC		0.438	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462	
NEO1	4756	broad.mit.edu	37	15	73418870	73418870	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:73418870C>A	ENST00000339362.5	+	5	1284	c.837C>A	c.(835-837)acC>acA	p.T279T	NEO1_ENST00000558964.1_Silent_p.T279T|NEO1_ENST00000560262.1_Silent_p.T279T|NEO1_ENST00000261908.6_Silent_p.T279T			Q92859	NEO1_HUMAN	neogenin 1	279	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T279T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTACTCCAACCATTAAATGGA	0.428																																					p.T279T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C837A	15						.						144.0	118.0	127.0					15																	73418870		2198	4297	6495	71205923	SO:0001819	synonymous_variant	4756	exon4			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.837C>A	15.37:g.73418870C>A			71205923	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	CCDS10247.1																																																																																				0.428	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
NEO1	4756	broad.mit.edu	37	15	73528770	73528770	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:73528770G>A	ENST00000339362.5	+	9	1821	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	NEO1_ENST00000558964.1_Silent_p.T458T|NEO1_ENST00000560262.1_Silent_p.T458T|NEO1_ENST00000261908.6_Silent_p.T458T|NEO1_ENST00000560352.1_3'UTR			Q92859	NEO1_HUMAN	neogenin 1	458	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T458T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCAAATTGACGTGGCGGACAC	0.557																																					p.T458T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1374A	15						.						218.0	166.0	184.0					15																	73528770		2198	4297	6495	71315823	SO:0001819	synonymous_variant	4756	exon8			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1374G>A	15.37:g.73528770G>A			71315823	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	ENST00000339362.5	37	CCDS10247.1																																																																																				0.557	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
NEO1	4756	broad.mit.edu	37	15	73590697	73590697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:73590697C>T	ENST00000339362.5	+	28	4357	c.3910C>T	c.(3910-3912)Cga>Tga	p.R1304*	NEO1_ENST00000558964.1_Nonsense_Mutation_p.R1293*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R1251*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.R1304*			Q92859	NEO1_HUMAN	neogenin 1	1304					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R1304*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGAATCCGTTCGAAATACCCC	0.483																																					p.R1251X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3751T	15						.						72.0	66.0	68.0					15																	73590697		2198	4297	6495	71377750	SO:0001587	stop_gained	4756	exon26			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3910C>T	15.37:g.73590697C>T	ENSP00000341198:p.Arg1304*		71377750	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Nonsense_Mutation	SNP	ENST00000339362.5	37	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	44	11.214717	0.99531	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.28	3.25	0.37280	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-1.8183	11.337	0.49509	0.1423:0.7206:0.1371:0.0	.	.	.	.	X	1251;1015;1304	.	ENSP00000261908:R1304X	R	+	1	2	NEO1	71377750	1.000000	0.71417	0.974000	0.42286	0.786000	0.44442	3.669000	0.54561	1.211000	0.43351	0.655000	0.94253	CGA		0.483	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
HCN4	10021	broad.mit.edu	37	15	73621930	73621930	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:73621930C>T	ENST00000261917.3	-	4	2567	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	525					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R525H(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTGGTACTGGCGCCGGGAGGA	0.637																																					p.R525H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1574A	15						.						58.0	55.0	56.0					15																	73621930		2198	4297	6495	71408983	SO:0001583	missense	10021	exon4			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1574G>A	15.37:g.73621930C>T	ENSP00000261917:p.Arg525His		71408983	NM_005477	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125399	0.77436	.	.	ENSG00000138622	ENST00000261917	D	0.96802	-4.13	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.98083	0.9368	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99094	1.0841	9	0.66056	D	0.02	.	16.5316	0.84362	0.0:1.0:0.0:0.0	.	525	Q9Y3Q4	HCN4_HUMAN	H	525	ENSP00000261917:R525H	ENSP00000261917:R525H	R	-	2	0	HCN4	71408983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.684000	0.84104	2.044000	0.60594	0.561000	0.74099	CGC		0.637	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
TBC1D21	161514	broad.mit.edu	37	15	74173770	74173770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:74173770G>T	ENST00000300504.2	+	2	174	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	TBC1D21_ENST00000562056.1_Nonsense_Mutation_p.E31*|TBC1D21_ENST00000535547.2_Intron	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	31						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.E31*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TGACAAGACAGAATGGGACAG	0.458																																					p.E31X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G91T	15						.						114.0	102.0	106.0					15																	74173770		2198	4297	6495	71960823	SO:0001587	stop_gained	161514	exon2			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.91G>T	15.37:g.74173770G>T	ENSP00000300504:p.Glu31*		71960823	NM_153356	B9A6M2	Nonsense_Mutation	SNP	ENST00000300504.2	37	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134485	0.56828	.	.	ENSG00000167139	ENST00000300504	.	.	.	5.02	5.02	0.67125	.	0.151475	0.32068	N	0.006638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-9.9744	13.7072	0.62646	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000300504:E31X	E	+	1	0	TBC1D21	71960823	1.000000	0.71417	0.924000	0.36721	0.125000	0.20455	4.851000	0.62896	2.600000	0.87896	0.655000	0.94253	GAA		0.458	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356	
ISLR2	57611	broad.mit.edu	37	15	74425519	74425519	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:74425519G>A	ENST00000361742.3	+	4	1193	c.424G>A	c.(424-426)Gca>Aca	p.A142T	ISLR2_ENST00000419208.1_Missense_Mutation_p.A142T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A142T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A142T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A142T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A142T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A142T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	142					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A142T(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCCCGGGACGCACTCGGTGC	0.637																																					p.A142T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424A	15						.						54.0	56.0	55.0					15																	74425519		2198	4297	6495	72212572	SO:0001583	missense	57611	exon3				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.424G>A	15.37:g.74425519G>A	ENSP00000355402:p.Ala142Thr		72212572	NM_020851	A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296869	0.81025	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000395121;ENST00000419208	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.46	4.46	0.54185	.	0.000000	0.64402	U	0.000001	T	0.68072	0.2961	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71230	-0.4654	10	0.54805	T	0.06	.	17.1202	0.86700	0.0:0.0:1.0:0.0	.	142	Q6UXK2	ISLR2_HUMAN	T	142	ENSP00000403244:A142T;ENSP00000355402:A142T;ENSP00000411443:A142T;ENSP00000411834:A142T;ENSP00000408872:A142T	ENSP00000355402:A142T	A	+	1	0	ISLR2	72212572	1.000000	0.71417	0.885000	0.34714	0.600000	0.36913	9.640000	0.98453	2.042000	0.60477	0.407000	0.27541	GCA		0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
ARID3B	10620	broad.mit.edu	37	15	74836357	74836357	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:74836357C>T	ENST00000346246.5	+	2	311	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	27	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.A27V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGATGGATGCCAGAGAGAAG	0.567																																					p.A27V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C80T	15						.						22.0	23.0	23.0					15																	74836357		2197	4293	6490	72623410	SO:0001583	missense	10620	exon2				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.80C>T	15.37:g.74836357C>T	ENSP00000343126:p.Ala27Val		72623410	NM_006465	O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802380	0.50315	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.48836	0.8	5.54	4.63	0.57726	.	0.843870	0.10702	N	0.643878	T	0.35158	0.0922	L	0.27053	0.805	0.29330	N	0.866756	B;B;B	0.28713	0.1;0.161;0.22	B;B;B	0.27380	0.036;0.079;0.058	T	0.25916	-1.0118	10	0.31617	T	0.26	-4.4954	9.9301	0.41517	0.0:0.7879:0.1376:0.0745	.	27;27;27	Q8IVW6;Q8IVW6-4;B4DQB0	ARI3B_HUMAN;.;.	V	27	ENSP00000343126:A27V	ENSP00000343126:A27V	A	+	2	0	ARID3B	72623410	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	1.146000	0.31589	1.324000	0.45282	0.650000	0.86243	GCC		0.567	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465	
NEIL1	79661	broad.mit.edu	37	15	75647145	75647145	+	Missense_Mutation	SNP	G	G	A	rs376283006		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:75647145G>A	ENST00000564784.1	+	10	1717	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	NEIL1_ENST00000355059.4_Missense_Mutation_p.R363Q|MIR631_ENST00000384904.1_RNA|RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000569035.1_Missense_Mutation_p.R363Q			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	363					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R363Q(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGGAAGGGGCGACAGGCAGCC	0.617								Base excision repair (BER), DNA glycosylases																													p.R363Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1088A	15						.	G	GLN/ARG	0,4394		0,0,2197	35.0	41.0	39.0		1088	-6.8	0.0	15		39	1,8587	1.2+/-3.3	0,1,4293	no	missense	NEIL1	NM_024608.2	43	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	benign	363/391	75647145	1,12981	2197	4294	6491	73434198	SO:0001583	missense	79661	exon9			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.1088G>A	15.37:g.75647145G>A	ENSP00000457352:p.Arg363Gln		73434198	NM_024608	D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499786	0.26861	0.0	1.16E-4	ENSG00000140398	ENST00000355059	T	0.12774	2.65	4.06	-6.84	0.01687	.	2.658450	0.01189	N	0.007270	T	0.10337	0.0253	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.06405	0.002	T	0.13872	-1.0493	10	0.32370	T	0.25	0.8156	13.8792	0.63672	0.7573:0.0:0.2427:0.0	.	363	Q96FI4	NEIL1_HUMAN	Q	363	ENSP00000347170:R363Q	ENSP00000347170:R363Q	R	+	2	0	NEIL1	73434198	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.108000	0.03313	-1.704000	0.01407	0.555000	0.69702	CGA		0.617	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608	
MAN2C1	4123	broad.mit.edu	37	15	75650645	75650645	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:75650645A>G	ENST00000267978.5	-	21	2490	c.2444T>C	c.(2443-2445)tTc>tCc	p.F815S	MAN2C1_ENST00000565683.1_Missense_Mutation_p.F832S|MAN2C1_ENST00000563622.1_Missense_Mutation_p.F716S|MAN2C1_ENST00000569482.1_Missense_Mutation_p.F815S|RP11-817O13.6_ENST00000563660.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	815					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.F815S(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCGAGCAGGGAACTCCACCTT	0.592																																					p.F815S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2444C	15						.						93.0	79.0	84.0					15																	75650645		2197	4294	6491	73437698	SO:0001583	missense	4123	exon21			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2444T>C	15.37:g.75650645A>G	ENSP00000267978:p.Phe815Ser		73437698	NM_006715	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802479	0.90538	.	.	ENSG00000140400	ENST00000267978	D	0.84146	-1.81	5.72	5.72	0.89469	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.044534	0.85682	D	0.000000	D	0.95043	0.8395	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96569	0.9421	10	0.87932	D	0	-24.6128	15.1637	0.72803	1.0:0.0:0.0:0.0	.	815;815	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	S	815	ENSP00000267978:F815S	ENSP00000267978:F815S	F	-	2	0	MAN2C1	73437698	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	9.056000	0.93881	2.182000	0.69389	0.459000	0.35465	TTC		0.592	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1		
SIN3A	25942	broad.mit.edu	37	15	75688616	75688616	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:75688616A>G	ENST00000394947.3	-	13	2390	c.2076T>C	c.(2074-2076)gtT>gtC	p.V692V	SIN3A_ENST00000394949.4_Silent_p.V692V|SIN3A_ENST00000360439.4_Silent_p.V692V	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.V692V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGACAATTGGAACAGCAATGG	0.408																																					p.V692V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2076C	15						.						129.0	111.0	117.0					15																	75688616		2197	4294	6491	73475669	SO:0001819	synonymous_variant	25942	exon13			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2076T>C	15.37:g.75688616A>G			73475669	NM_001145358		Silent	SNP	ENST00000394947.3	37	CCDS10279.1																																																																																				0.408	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
SNUPN	10073	broad.mit.edu	37	15	75901981	75901981	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:75901981A>G	ENST00000564644.1	-	6	998	c.420T>C	c.(418-420)agT>agC	p.S140S	SNUPN_ENST00000371091.5_Silent_p.S182S|SNUPN_ENST00000567134.1_Silent_p.S140S|SNUPN_ENST00000308588.5_Silent_p.S140S|SNUPN_ENST00000564675.1_Silent_p.S140S			O95149	SPN1_HUMAN	snurportin 1	140	Necessary for interaction with XPO1.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)	p.S140S(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TGGTGTAGGCACTGGTAGAAC	0.488																																					p.S140S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T420C	15						.						110.0	106.0	107.0					15																	75901981		2197	4294	6491	73689036	SO:0001819	synonymous_variant	10073	exon5			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.420T>C	15.37:g.75901981A>G			73689036	NM_001042581	A6NE34|A8K0B0|D3DW76	Silent	SNP	ENST00000564644.1	37	CCDS10281.1																																																																																				0.488	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420332.1	NM_005701	
SCAPER	49855	broad.mit.edu	37	15	76668545	76668545	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:76668545G>A	ENST00000563290.1	-	29	3908	c.3813C>T	c.(3811-3813)atC>atT	p.I1271I	SCAPER_ENST00000324767.7_Silent_p.I1271I|SCAPER_ENST00000538941.2_Silent_p.I1025I			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1271						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.I1271I(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CCACACAGACGATGACCTCAT	0.567																																					p.I1025I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3075T	15						.						76.0	79.0	78.0					15																	76668545		1983	4176	6159	74455600	SO:0001819	synonymous_variant	49855	exon29			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3813C>T	15.37:g.76668545G>A			74455600	NM_001145923	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	CCDS53962.1																																																																																				0.567	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
SCAPER	49855	broad.mit.edu	37	15	76763674	76763674	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:76763674G>T	ENST00000563290.1	-	25	3052	c.2957C>A	c.(2956-2958)tCt>tAt	p.S986Y	SCAPER_ENST00000324767.7_Missense_Mutation_p.S986Y|SCAPER_ENST00000538941.2_Missense_Mutation_p.S740Y			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	986						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S986Y(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTGCAGAGAGACCTAAAAGA	0.348																																					p.S740Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2219A	15						.						85.0	79.0	81.0					15																	76763674		1832	4084	5916	74550729	SO:0001583	missense	49855	exon25			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2957C>A	15.37:g.76763674G>T	ENSP00000454973:p.Ser986Tyr		74550729	NM_001145923	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101203	0.56183	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25912	1.79;1.77	6.06	5.14	0.70334	.	0.167868	0.56097	D	0.000037	T	0.35856	0.0946	M	0.73962	2.25	0.53005	D	0.999963	B;B	0.22276	0.067;0.051	B;B	0.26969	0.075;0.069	T	0.24190	-1.0167	10	0.87932	D	0	.	17.3738	0.87386	0.0:0.125:0.875:0.0	.	985;740	Q9BY12;F5H7X8	SCAPE_HUMAN;.	Y	986;740;1008	ENSP00000326924:S986Y;ENSP00000442190:S740Y	ENSP00000303560:S1008Y	S	-	2	0	SCAPER	74550729	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.680000	0.74518	1.548000	0.49413	0.650000	0.86243	TCT		0.348	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
TBC1D2B	23102	broad.mit.edu	37	15	78346415	78346415	+	Missense_Mutation	SNP	C	C	T	rs571404029	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:78346415C>T	ENST00000300584.3	-	2	474	c.475G>A	c.(475-477)Ggg>Agg	p.G159R	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.G159R	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	159							Rab GTPase activator activity (GO:0005097)	p.G159R(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGAAAATCCCCGGGAGTTGGA	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		19917	0.0		0.0	False		,,,				2504	0.002				p.G159R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G475A	15						.						140.0	138.0	138.0					15																	78346415		2196	4293	6489	76133470	SO:0001583	missense	23102	exon2			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.475G>A	15.37:g.78346415C>T	ENSP00000300584:p.Gly159Arg		76133470	NM_144572	A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761014	0.15914	.	.	ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468	T;T	0.08984	3.03;3.03	5.5	3.61	0.41365	.	0.524497	0.20715	N	0.087016	T	0.06416	0.0165	L	0.51422	1.61	0.09310	N	1	B;P	0.43578	0.36;0.811	B;B	0.32211	0.05;0.142	T	0.34925	-0.9809	10	0.44086	T	0.13	.	6.0429	0.19744	0.0:0.6687:0.0:0.3313	.	159;159	Q9UPU7-2;Q9UPU7	.;TBD2B_HUMAN	R	159;159;47	ENSP00000387165:G159R;ENSP00000300584:G159R	ENSP00000300584:G159R	G	-	1	0	TBC1D2B	76133470	0.156000	0.22821	0.056000	0.19401	0.049000	0.14656	0.812000	0.27211	1.303000	0.44873	0.561000	0.74099	GGG		0.468	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079	
ACSBG1	23205	broad.mit.edu	37	15	78526729	78526729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:78526729C>A	ENST00000258873.4	-	1	320	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	39					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.E39*(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TTCAATTTTTCTTGGGTGGTC	0.557																																					p.E39X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G115T	15						.						219.0	228.0	225.0					15																	78526729		2196	4293	6489	76313784	SO:0001587	stop_gained	23205	exon1			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.115G>T	15.37:g.78526729C>A	ENSP00000258873:p.Glu39*		76313784	NM_001199377	B2RB61|O75126|Q76N27|Q9HC26	Nonsense_Mutation	SNP	ENST00000258873.4	37	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	37	6.358510	0.97502	.	.	ENSG00000103740	ENST00000258873	.	.	.	4.61	4.61	0.57282	.	0.171312	0.27710	N	0.018172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-3.9361	13.3129	0.60390	0.0:1.0:0.0:0.0	.	.	.	.	X	39	.	ENSP00000258873:E39X	E	-	1	0	ACSBG1	76313784	0.231000	0.23751	0.023000	0.16930	0.262000	0.26303	2.084000	0.41625	2.257000	0.74773	0.462000	0.41574	GAA		0.557	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162	
WDR61	80349	broad.mit.edu	37	15	78577679	78577679	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:78577679G>A	ENST00000267973.2	-	10	1023	c.752C>T	c.(751-753)tCg>tTg	p.S251L	WDR61_ENST00000558459.1_Missense_Mutation_p.S158L|WDR61_ENST00000559332.1_5'UTR|WDR61_ENST00000558311.1_Missense_Mutation_p.S251L			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	251					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.S251L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTTGTCAGACGAACTATTTTA	0.378																																					p.S251L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752T	15						.						104.0	94.0	98.0					15																	78577679		2196	4293	6489	76364734	SO:0001583	missense	80349	exon10				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.752C>T	15.37:g.78577679G>A	ENSP00000267973:p.Ser251Leu		76364734	NM_025234	D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	ENST00000267973.2	37	CCDS10300.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229257	0.95173	.	.	ENSG00000140395	ENST00000267973	T	0.74421	-0.84	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066152	0.64402	D	0.000005	D	0.85784	0.5777	M	0.92077	3.27	0.80722	D	1	D	0.69078	0.997	P	0.50082	0.63	D	0.89281	0.3612	10	0.87932	D	0	-9.3276	19.0512	0.93046	0.0:0.0:1.0:0.0	.	251	Q9GZS3	WDR61_HUMAN	L	251	ENSP00000267973:S251L	ENSP00000267973:S251L	S	-	2	0	WDR61	76364734	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.382000	0.97209	2.735000	0.93741	0.655000	0.94253	TCG		0.378	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289803.3	NM_025234	
CTSH	1512	broad.mit.edu	37	15	79215377	79215377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:79215377C>T	ENST00000220166.5	-	11	999	c.890G>A	c.(889-891)tGg>tAg	p.W297*	CTSH_ENST00000534533.1_5'Flank	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	297					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TTTCACGATCCAGTAAGGGAT	0.502																																					p.W297X												.	.	0			c.G890A	15						.						83.0	84.0	84.0					15																	79215377		2196	4293	6489	77002432	SO:0001587	stop_gained	1512	exon11			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.890G>A	15.37:g.79215377C>T	ENSP00000220166:p.Trp297*		77002432	NM_004390	B2RBK0|Q96NY6|Q9BUM7	Nonsense_Mutation	SNP	ENST00000220166.5	37	CCDS10308.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030656	0.93575	.	.	ENSG00000103811	ENST00000220166;ENST00000394758	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.104	0.59237	0.0:1.0:0.0:0.0	.	.	.	.	X	297;285	.	ENSP00000220166:W297X	W	-	2	0	CTSH	77002432	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.265000	0.72534	2.479000	0.83701	0.491000	0.48974	TGG		0.502	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291370.1	NM_004390	
RASGRF1	5923	broad.mit.edu	37	15	79284086	79284086	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:79284086G>A	ENST00000419573.3	-	22	3400	c.3126C>T	c.(3124-3126)atC>atT	p.I1042I	RASGRF1_ENST00000558480.2_Silent_p.I1026I|RASGRF1_ENST00000394745.3_Silent_p.I258I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1042	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I1042I(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTGCTCCGCGATCTCCAGGG	0.557																																					p.I1042I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3126T	15						.						119.0	106.0	110.0					15																	79284086		2196	4293	6489	77071141	SO:0001819	synonymous_variant	5923	exon22			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3126C>T	15.37:g.79284086G>A			77071141	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																				0.557	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
KIAA1024	23251	broad.mit.edu	37	15	79749474	79749474	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:79749474G>A	ENST00000305428.3	+	2	1060	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	329						integral component of membrane (GO:0016021)		p.E329K(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGCAAAGCACGAAAGCTTAGA	0.517																																					p.E329K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G985A	15						.						109.0	114.0	112.0					15																	79749474		2196	4293	6489	77536529	SO:0001583	missense	23251	exon2			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.985G>A	15.37:g.79749474G>A	ENSP00000307461:p.Glu329Lys		77536529	NM_015206	A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406536	0.83230	.	.	ENSG00000169330	ENST00000305428	T	0.30182	1.54	5.29	5.29	0.74685	.	0.049873	0.85682	D	0.000000	T	0.56863	0.2014	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.55829	-0.8079	9	.	.	.	.	18.9224	0.92530	0.0:0.0:1.0:0.0	.	329	Q9UPX6	K1024_HUMAN	K	329	ENSP00000307461:E329K	.	E	+	1	0	KIAA1024	77536529	1.000000	0.71417	0.251000	0.24312	0.764000	0.43329	8.959000	0.93110	2.454000	0.82982	0.591000	0.81541	GAA		0.517	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
KIAA1024	23251	broad.mit.edu	37	15	79750157	79750158	+	Missense_Mutation	DNP	CG	CG	TA	rs144353351		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	CG	CG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:79750157_79750158CG>TA	ENST00000305428.3	+	2	1743_1744	c.1668_1669CG>TA	c.(1666-1671)tgCGac>tgTAac	p.D557N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	557						integral component of membrane (GO:0016021)		p.C556>?(1)|p.D557N(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGTCAGACTGCGACAGTTCCCC	0.525																																					.												.	.	2	Substitution - Missense(1)|Complex(1)	large_intestine(1)|prostate(1)	c.1668_1669TA	15						.																																			77537213	SO:0001583	missense	23251	exon2			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		Exception_encountered	15.37:g.79750157_79750158delinsTA	ENSP00000307461:p.Asp557Asn		77537212	NM_015206	A7MD43	Missense_Mutation	DNP	ENST00000305428.3	37	CCDS32306.1																																																																																				0.525	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
ABHD17C	58489	broad.mit.edu	37	15	81046694	81046694	+	Missense_Mutation	SNP	G	G	A	rs200549811		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:81046694G>A	ENST00000258884.4	+	3	1100	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	ABHD17C_ENST00000560609.1_Missense_Mutation_p.E90K|ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000558464.1_Missense_Mutation_p.E291K	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	325							hydrolase activity (GO:0016787)	p.E325K(1)									CATATCTCACGAACTTCCTAA	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		22662	0.0		0.001	False		,,,				2504	0.0				p.E325K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G973A	15						.						58.0	56.0	57.0					15																	81046694		1905	4129	6034	78833749	SO:0001583	missense	58489	exon3				CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.973G>A	15.37:g.81046694G>A	ENSP00000258884:p.Glu325Lys		78833749	NM_021214	Q1RMD6|Q9NPM1	Missense_Mutation	SNP	ENST00000258884.4	37	CCDS45323.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.1	4.604086	0.87157	.	.	ENSG00000136379	ENST00000258884	T	0.40476	1.03	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	M	0.81802	2.56	0.80722	D	1	P;D	0.58970	0.926;0.984	B;P	0.49451	0.406;0.611	T	0.64592	-0.6371	10	0.52906	T	0.07	.	18.5515	0.91066	0.0:0.0:1.0:0.0	.	325;291	Q6PCB6;Q6PCB6-2	F108C_HUMAN;.	K	325	ENSP00000258884:E325K	ENSP00000258884:E325K	E	+	1	0	FAM108C1	78833749	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	9.191000	0.94940	2.375000	0.81037	0.555000	0.69702	GAA		0.438	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214	
CEMIP	57214	broad.mit.edu	37	15	81221257	81221257	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:81221257G>A	ENST00000394685.3	+	20	2854	c.2435G>A	c.(2434-2436)gGc>gAc	p.G812D	KIAA1199_ENST00000220244.3_Missense_Mutation_p.G812D|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G812D|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		812					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.G812D(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTGACAATGGCATTGGCCTG	0.522																																					p.G812D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2435A	15						.						135.0	116.0	122.0					15																	81221257		2203	4300	6503	79008312	SO:0001583	missense	57214	exon19																														ENST00000394685.3:c.2435G>A	15.37:g.81221257G>A	ENSP00000378177:p.Gly812Asp		79008312	NM_018689	Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750459	0.69533	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.59364	0.27;0.27;0.27	4.57	4.57	0.56435	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	M	0.71036	2.16	0.54753	D	0.999985	D	0.89917	1.0	D	0.77004	0.989	T	0.72827	-0.4175	10	0.33141	T	0.24	-34.0794	17.9156	0.88948	0.0:0.0:1.0:0.0	.	812	Q8WUJ3	K1199_HUMAN	D	812	ENSP00000220244:G812D;ENSP00000378177:G812D;ENSP00000348583:G812D	ENSP00000220244:G812D	G	+	2	0	KIAA1199	79008312	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	8.641000	0.91032	2.518000	0.84900	0.655000	0.94253	GGC		0.522	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1		
IL16	3603	broad.mit.edu	37	15	81572104	81572104	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:81572104C>A	ENST00000302987.4	+	7	1070	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	IL16_ENST00000394660.2_Missense_Mutation_p.S357Y			Q14005	IL16_HUMAN	interleukin 16	357	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S357Y(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTGGAGGTTTCTCTGCAGAAA	0.572																																					p.S357Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1070A	15						.						50.0	53.0	52.0					15																	81572104		1993	4173	6166	79359159	SO:0001583	missense	3603	exon8			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1070C>A	15.37:g.81572104C>A	ENSP00000302935:p.Ser357Tyr		79359159	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039165	0.55003	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.17370	2.28;2.28	4.82	3.87	0.44632	PDZ/DHR/GLGF (2);	0.000000	0.45126	D	0.000398	T	0.20780	0.0500	L	0.49126	1.545	0.20764	N	0.999857	D;D	0.59357	0.974;0.985	P;P	0.52672	0.512;0.706	T	0.05835	-1.0861	10	0.09084	T	0.74	.	9.52	0.39129	0.0:0.6523:0.2717:0.0761	.	357;357	Q14005;Q14005-2	IL16_HUMAN;.	Y	357;357;189;357	ENSP00000378155:S357Y;ENSP00000302935:S357Y	ENSP00000302935:S357Y	S	+	2	0	IL16	79359159	0.838000	0.29461	0.790000	0.31976	0.991000	0.79684	2.023000	0.41040	1.199000	0.43173	0.484000	0.47621	TCT		0.572	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
IL16	3603	broad.mit.edu	37	15	81578130	81578130	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:81578130G>A	ENST00000302987.4	+	9	1291	c.1291G>A	c.(1291-1293)Ggt>Agt	p.G431S	IL16_ENST00000394660.2_Missense_Mutation_p.G431S			Q14005	IL16_HUMAN	interleukin 16	431	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTGTGATCCCGGTCCAGTCCC	0.522																																					p.G431S												.	.	0			c.G1291A	15						.						175.0	174.0	175.0					15																	81578130		2051	4192	6243	79365185	SO:0001583	missense	3603	exon10			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1291G>A	15.37:g.81578130G>A	ENSP00000302935:p.Gly431Ser		79365185	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405602	0.83230	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.18016	2.24;2.24	5.23	5.23	0.72850	PDZ/DHR/GLGF (2);	0.000000	0.46442	D	0.000298	T	0.42899	0.1223	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.17018	-1.0383	10	0.54805	T	0.06	.	18.9886	0.92782	0.0:0.0:1.0:0.0	.	431;431	Q14005;Q14005-2	IL16_HUMAN;.	S	431;431;263;431	ENSP00000378155:G431S;ENSP00000302935:G431S	ENSP00000302935:G431S	G	+	1	0	IL16	79365185	1.000000	0.71417	0.256000	0.24389	0.351000	0.29236	8.326000	0.90010	2.717000	0.92951	0.655000	0.94253	GGT		0.522	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
FAM154B	283726	broad.mit.edu	37	15	82563946	82563946	+	Missense_Mutation	SNP	C	C	T	rs145916991		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:82563946C>T	ENST00000339465.5	+	2	125	c.56C>T	c.(55-57)tCg>tTg	p.S19L	FAM154B_ENST00000565432.1_Missense_Mutation_p.S32L|FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.S4L	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	19								p.S19L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATTTCAGGTCGGATTATTGT	0.323													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17054	0.0		0.0	False		,,,				2504	0.0				p.S19L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C56T	15						.	C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	49.0	48.0	49.0		56	3.1	0.9	15	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM154B	NM_001008226.1	145	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	19/399	82563946	3,13003	2203	4300	6503	80351001	SO:0001583	missense	283726	exon2			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.56C>T	15.37:g.82563946C>T	ENSP00000340445:p.Ser19Leu		80351001	NM_001008226	B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.00	2.997362	0.54147	4.54E-4	1.16E-4	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.20738	2.24;2.05	4.98	3.06	0.35304	.	0.096722	0.43416	D	0.000574	T	0.35682	0.0940	M	0.70595	2.14	0.36911	D	0.890886	D;D	0.69078	0.997;0.994	P;P	0.56127	0.776;0.792	T	0.31943	-0.9925	10	0.25106	T	0.35	-1.4387	13.1995	0.59758	0.0:0.8151:0.1156:0.0693	.	4;19	B4E2M2;Q658L1	.;F154B_HUMAN	L	19;4	ENSP00000340445:S19L;ENSP00000403743:S4L	ENSP00000340445:S19L	S	+	2	0	FAM154B	80351001	1.000000	0.71417	0.908000	0.35775	0.933000	0.57130	4.134000	0.57990	0.235000	0.21160	-1.094000	0.02160	TCG		0.323	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226	
FSD2	123722	broad.mit.edu	37	15	83456038	83456038	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:83456038G>T	ENST00000334574.8	-	2	286	c.105C>A	c.(103-105)ctC>ctA	p.L35L	FSD2_ENST00000541889.1_Silent_p.L35L			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	35								p.L35L(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTTCTGGAAAGAGGTGCAGTC	0.502																																					p.L35L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C105A	15						.						140.0	133.0	135.0					15																	83456038		1969	4156	6125	81253092	SO:0001819	synonymous_variant	123722	exon2			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.105C>A	15.37:g.83456038G>T			81253092	NM_001007122	B3KVG1|B7ZM02	Silent	SNP	ENST00000334574.8	37	CCDS45332.1																																																																																				0.502	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122	
BTBD1	53339	broad.mit.edu	37	15	83698894	83698894	+	Missense_Mutation	SNP	C	C	T	rs375946711		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:83698894C>T	ENST00000261721.4	-	5	1251	c.1049G>A	c.(1048-1050)cGa>cAa	p.R350Q	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R350Q|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	350					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)		p.R350Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATACCTGATTCGATCACTCGT	0.448																																					p.R350Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1049A	15						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	285.0	299.0	294.0		1049,1049	5.2	0.1	15		294	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BTBD1	NM_001011885.1,NM_025238.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	350/386,350/483	83698894	1,13005	2203	4300	6503	81489898	SO:0001583	missense	53339	exon5			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.1049G>A	15.37:g.83698894C>T	ENSP00000261721:p.Arg350Gln		81489898	NM_025238	A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382808	0.95967	0.0	1.16E-4	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.15834	2.39;2.39	5.15	5.15	0.70609	PHR (1);	0.000000	0.85682	D	0.000000	T	0.47967	0.1474	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.966;0.999	T	0.51702	-0.8672	10	0.59425	D	0.04	-15.4214	19.0002	0.92830	0.0:1.0:0.0:0.0	.	350;350	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	Q	350	ENSP00000261721:R350Q;ENSP00000368713:R350Q	ENSP00000261721:R350Q	R	-	2	0	BTBD1	81489898	1.000000	0.71417	0.067000	0.19924	0.974000	0.67602	7.713000	0.84693	2.569000	0.86673	0.561000	0.74099	CGA		0.448	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1		
BNC1	646	broad.mit.edu	37	15	83931925	83931925	+	Missense_Mutation	SNP	G	G	A	rs146647716	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:83931925G>A	ENST00000345382.2	-	4	2163	c.2078C>T	c.(2077-2079)gCt>gTt	p.A693V	BNC1_ENST00000569704.1_Missense_Mutation_p.A686V|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	693					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A693V(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACAAGGAAAAGCCATTCCCCT	0.502																																					p.A693V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2078T	15						.	G	VAL/ALA	0,4406		0,0,2203	72.0	73.0	73.0		2078	4.5	1.0	15	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	missense	BNC1	NM_001717.3	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	693/995	83931925	2,13004	2203	4300	6503	81722929	SO:0001583	missense	646	exon4			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.2078C>T	15.37:g.83931925G>A	ENSP00000307041:p.Ala693Val		81722929	NM_001717	Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295460	0.60086	0.0	2.33E-4	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.51325	0.71	5.46	4.54	0.55810	.	0.830665	0.11197	N	0.589276	T	0.43299	0.1241	L	0.56769	1.78	0.34003	D	0.650536	P;B	0.35575	0.51;0.098	B;B	0.34536	0.185;0.03	T	0.57493	-0.7802	10	0.54805	T	0.06	-1.8766	7.8904	0.29675	0.0806:0.0:0.7582:0.1612	.	686;693	F5GY04;Q01954	.;BNC1_HUMAN	V	693;686	ENSP00000307041:A693V	ENSP00000307041:A693V	A	-	2	0	BNC1	81722929	0.995000	0.38212	0.992000	0.48379	0.974000	0.67602	2.435000	0.44811	2.548000	0.85928	0.655000	0.94253	GCT		0.502	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
ZNF592	9640	broad.mit.edu	37	15	85327062	85327062	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:85327062G>A	ENST00000560079.2	+	4	1444	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	ZNF592_ENST00000299927.3_Missense_Mutation_p.E386K	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	386					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E386K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATCATCAGGGGAAATCAAACG	0.542																																					p.E386K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1156A	15						.						58.0	60.0	59.0					15																	85327062		2203	4299	6502	83128066	SO:0001583	missense	9640	exon4			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1156G>A	15.37:g.85327062G>A	ENSP00000452877:p.Glu386Lys		83128066	NM_014630	Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495924	0.64186	.	.	ENSG00000166716	ENST00000299927	T	0.00631	6.09	5.65	4.73	0.59995	.	0.149188	0.64402	D	0.000015	T	0.01870	0.0059	M	0.64170	1.965	0.50171	D	0.999855	D	0.57571	0.98	P	0.52514	0.701	T	0.62515	-0.6838	10	0.72032	D	0.01	-11.9464	14.3733	0.66857	0.0:0.1491:0.8509:0.0	.	386	Q92610	ZN592_HUMAN	K	386	ENSP00000299927:E386K	ENSP00000299927:E386K	E	+	1	0	ZNF592	83128066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.621000	0.61233	1.360000	0.45960	0.655000	0.94253	GAA		0.542	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
SLC28A1	9154	broad.mit.edu	37	15	85478327	85478327	+	Missense_Mutation	SNP	G	G	A	rs182952101		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:85478327G>A	ENST00000286749.3	+	13	1375	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A429T|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A429T|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A429T			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	429					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.A429T(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CGCCAACATCGCTGCCAACCT	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20683	0.0		0.0	False		,,,				2504	0.0				p.A429T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1285A	15						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	125.0	106.0	113.0		1285	3.5	0.0	15		113	0,8598		0,0,4299	no	missense	SLC28A1	NM_004213.3	58	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	429/650	85478327	1,13003	2203	4299	6502	83279331	SO:0001583	missense	9154	exon14			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1285G>A	15.37:g.85478327G>A	ENSP00000286749:p.Ala429Thr		83279331	NM_004213	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.39	3.109152	0.56398	2.27E-4	0.0	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.32	3.47	0.39725	Na dependent nucleoside transporter, C-terminal (1);	0.218568	0.47093	D	0.000251	T	0.19005	0.0456	M	0.76002	2.32	0.80722	D	1	D;P;P	0.54047	0.964;0.479;0.841	P;B;P	0.53593	0.73;0.177;0.532	T	0.00645	-1.1629	10	0.54805	T	0.06	-20.6899	9.9552	0.41661	0.1641:0.0:0.8359:0.0	.	429;429;429	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	T	429	ENSP00000440546:A429T;ENSP00000444700:A429T;ENSP00000286749:A429T;ENSP00000378074:A429T	ENSP00000286749:A429T	A	+	1	0	SLC28A1	83279331	1.000000	0.71417	0.035000	0.18076	0.759000	0.43091	7.444000	0.80532	0.828000	0.34709	-0.262000	0.10625	GCT		0.547	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		
ACAN	176	broad.mit.edu	37	15	89401133	89401133	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:89401133C>A	ENST00000561243.1	+	11	5317	c.5317C>A	c.(5317-5319)Ctt>Att	p.L1773I	ACAN_ENST00000352105.7_Missense_Mutation_p.L1773I|ACAN_ENST00000559004.1_Missense_Mutation_p.L1773I|ACAN_ENST00000439576.2_Missense_Mutation_p.L1773I			P16112	PGCA_HUMAN	aggrecan	1797	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.L1659I(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATCTGGAGTTCTTTATGGCAC	0.512																																					p.L1773I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5317A	15						.						56.0	57.0	57.0					15																	89401133		1903	4120	6023	87202137	SO:0001583	missense	176	exon12			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5317C>A	15.37:g.89401133C>A	ENSP00000453342:p.Leu1773Ile		87202137	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	3.881	-0.025901	0.07589	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02216	4.62;4.39	5.86	-0.751	0.11076	.	1.791110	0.03758	N	0.257622	T	0.02533	0.0077	L	0.35414	1.06	0.09310	N	1	B;P	0.42483	0.23;0.781	B;P	0.44732	0.119;0.459	T	0.38308	-0.9667	10	0.18710	T	0.47	1.1136	1.7653	0.03001	0.2027:0.2687:0.3416:0.187	.	1773;1773	E7ENV9;E7EX88	.;.	I	1773;1773;1659	ENSP00000387356:L1773I;ENSP00000341615:L1773I	ENSP00000268134:L1659I	L	+	1	0	ACAN	87202137	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-0.341000	0.07811	-0.142000	0.11354	-0.176000	0.13171	CTT		0.512	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
ABHD2	11057	broad.mit.edu	37	15	89731522	89731522	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:89731522A>G	ENST00000352732.5	+	8	1434	c.914A>G	c.(913-915)gAc>gGc	p.D305G	ABHD2_ENST00000565973.1_Missense_Mutation_p.D305G|ABHD2_ENST00000355100.3_Missense_Mutation_p.D305G	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	305					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.D305G(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAGATTGATGACAATGTGATG	0.577																																					p.D305G	Colon(11;252 417 24570 33239 41878)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A914G	15						.						106.0	89.0	94.0					15																	89731522		2200	4299	6499	87532526	SO:0001583	missense	11057	exon8			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.914A>G	15.37:g.89731522A>G	ENSP00000268129:p.Asp305Gly		87532526	NM_152924	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.915173	0.92178	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.61392	0.11;0.11	5.59	5.59	0.84812	Uncharacterised protein family UPF0017, hydrolase-like, conserved site (1);Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.68568	0.3015	L	0.52126	1.63	0.80722	D	1	D	0.61697	0.99	P	0.62089	0.898	T	0.68239	-0.5461	10	0.42905	T	0.14	-2.5829	15.7768	0.78228	1.0:0.0:0.0:0.0	.	305	P08910	ABHD2_HUMAN	G	305	ENSP00000268129:D305G;ENSP00000347217:D305G	ENSP00000268129:D305G	D	+	2	0	ABHD2	87532526	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.962000	0.93254	2.120000	0.65058	0.528000	0.53228	GAC		0.577	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2		
RHCG	51458	broad.mit.edu	37	15	90020349	90020349	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:90020349T>C	ENST00000268122.4	-	8	1269	c.1201A>G	c.(1201-1203)Acc>Gcc	p.T401A	RHCG_ENST00000544600.1_Missense_Mutation_p.T401A	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	401					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.T401A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					ATGGCCAGGGTCACCAAGAGA	0.572																																					p.T401A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1201G	15						.						114.0	107.0	109.0					15																	90020349		2200	4299	6499	87821353	SO:0001583	missense	51458	exon8			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1201A>G	15.37:g.90020349T>C	ENSP00000268122:p.Thr401Ala		87821353	NM_016321	A8K4D4|Q6X3Y4	Missense_Mutation	SNP	ENST00000268122.4	37	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.269183	0.40095	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.22134	1.97;1.97	5.6	3.24	0.37175	Ammonium transporter AmtB-like (3);	0.259259	0.45126	D	0.000400	T	0.12987	0.0315	N	0.17800	0.525	0.28099	N	0.931492	B	0.33826	0.427	B	0.34931	0.192	T	0.15636	-1.0430	9	.	.	.	-24.7757	10.138	0.42719	0.7811:0.0:0.0:0.2189	.	401	Q9UBD6	RHCG_HUMAN	A	401;401;392	ENSP00000438123:T401A;ENSP00000268122:T401A	.	T	-	1	0	RHCG	87821353	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	2.533000	0.45667	0.376000	0.24707	0.533000	0.62120	ACC		0.572	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321	
WDR93	56964	broad.mit.edu	37	15	90245132	90245132	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:90245132C>A	ENST00000268130.7	+	2	256	c.155C>A	c.(154-156)tCc>tAc	p.S52Y	WDR93_ENST00000560294.1_Missense_Mutation_p.S52Y|WDR93_ENST00000558000.1_Missense_Mutation_p.S52Y|RP11-300G22.2_ENST00000557964.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	52					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.S52Y(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGCTGGATTCCTTGCCTCAG	0.502																																					p.S52Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155A	15						.						109.0	91.0	97.0					15																	90245132		2200	4299	6499	88046136	SO:0001583	missense	56964	exon2				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.155C>A	15.37:g.90245132C>A	ENSP00000268130:p.Ser52Tyr		88046136	NM_020212	Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492304	0.44352	.	.	ENSG00000140527	ENST00000268130	T	0.25250	1.81	5.59	3.72	0.42706	.	0.312450	0.28600	N	0.014777	T	0.37293	0.0998	M	0.72118	2.19	0.80722	D	1	D;B;D	0.55605	0.972;0.358;0.972	P;B;P	0.55222	0.771;0.203;0.771	T	0.09640	-1.0665	10	0.30078	T	0.28	-18.734	7.652	0.28354	0.0:0.7451:0.0:0.2549	.	52;52;52	Q6P2C0-2;B4E3E2;Q6P2C0	.;.;WDR93_HUMAN	Y	52	ENSP00000268130:S52Y	ENSP00000268130:S52Y	S	+	2	0	WDR93	88046136	0.064000	0.20934	1.000000	0.80357	0.673000	0.39480	0.571000	0.23669	0.745000	0.32763	-0.127000	0.14921	TCC		0.502	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212	
ZNF774	342132	broad.mit.edu	37	15	90903825	90903825	+	Silent	SNP	A	A	G	rs573427563		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:90903825A>G	ENST00000354377.3	+	4	948	c.762A>G	c.(760-762)caA>caG	p.Q254Q	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q254Q(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAATGCACCAAAGAACCCACA	0.527																																					p.Q254Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A762G	15						.						52.0	54.0	53.0					15																	90903825		2199	4298	6497	88704829	SO:0001819	synonymous_variant	342132	exon4			BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.762A>G	15.37:g.90903825A>G			88704829	NM_001004309	A8K020	Silent	SNP	ENST00000354377.3	37	CCDS32330.1																																																																																				0.527	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309	
IQGAP1	8826	broad.mit.edu	37	15	91038057	91038057	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:91038057C>A	ENST00000268182.5	+	36	4865	c.4741C>A	c.(4741-4743)Caa>Aaa	p.Q1581K	IQGAP1_ENST00000560738.1_Missense_Mutation_p.Q1009K	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1581	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.Q1581K(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGAGGACCTGCAAGTGAATCA	0.333																																					p.Q1581K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4741A	15						.						130.0	131.0	130.0					15																	91038057		2198	4298	6496	88839061	SO:0001583	missense	8826	exon36			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4741C>A	15.37:g.91038057C>A	ENSP00000268182:p.Gln1581Lys		88839061	NM_003870	A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453240	0.63290	.	.	ENSG00000140575	ENST00000268182	T	0.43294	0.95	5.68	5.68	0.88126	RasGAP protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.69823	2.125	0.80722	D	1	P;P	0.40909	0.593;0.732	P;P	0.48795	0.59;0.486	T	0.43909	-0.9362	10	0.23302	T	0.38	-19.0148	19.1493	0.93481	0.0:1.0:0.0:0.0	.	202;1581	B4DNP4;P46940	.;IQGA1_HUMAN	K	1581	ENSP00000268182:Q1581K	ENSP00000268182:Q1581K	Q	+	1	0	IQGAP1	88839061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.713000	0.84693	2.835000	0.97688	0.650000	0.86243	CAA		0.333	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870	
BLM	641	broad.mit.edu	37	15	91346823	91346823	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:91346823G>T	ENST00000355112.3	+	18	3549	c.3431G>T	c.(3430-3432)aGa>aTa	p.R1144I	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1144					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.R1144I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AATGCCGAAAGACTTTTTAAA	0.383			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																												p.R1144I		yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3431T	15						.						89.0	89.0	89.0					15																	91346823		2198	4298	6496	89147827	SO:0001583	missense	641	exon18	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3431G>T	15.37:g.91346823G>T	ENSP00000347232:p.Arg1144Ile		89147827	NM_000057	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030628	0.93575	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.52057	0.68	5.65	5.65	0.86999	RQC domain (2);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.92219	3.285	0.80722	D	1	P	0.45986	0.87	P	0.57057	0.812	T	0.79694	-0.1696	10	0.87932	D	0	-5.2172	17.225	0.86967	0.0:0.0:1.0:0.0	.	1144	P54132	BLM_HUMAN	I	1144;774;331	ENSP00000347232:R1144I	ENSP00000347232:R1144I	R	+	2	0	BLM	89147827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.057000	0.93889	2.677000	0.91161	0.561000	0.74099	AGA		0.383	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1		
MAN2A2	4122	broad.mit.edu	37	15	91450651	91450651	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:91450651C>A	ENST00000559717.1	+	8	1581	c.1122C>A	c.(1120-1122)cgC>cgA	p.R374R	MAN2A2_ENST00000431652.2_De_novo_Start_OutOfFrame|MAN2A2_ENST00000360468.3_Silent_p.R374R			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	374					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.R374R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATTTCAAACGCCTGCCTGGTG	0.562																																					p.R374R												.	.	1	Substitution - coding silent(1)	lung(1)	c.C1122A	15						.						78.0	77.0	78.0					15																	91450651		2198	4298	6496	89251655	SO:0001819	synonymous_variant	4122	exon7			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1122C>A	15.37:g.91450651C>A			89251655	NM_006122	A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	CCDS32332.1																																																																																				0.562	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	
PRC1	9055	broad.mit.edu	37	15	91517421	91517421	+	Missense_Mutation	SNP	C	C	T	rs141668295		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:91517421C>T	ENST00000361188.5	-	11	2617	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.R469Q|PRC1_ENST00000442656.2_Missense_Mutation_p.R428Q|PRC1_ENST00000361919.3_Missense_Mutation_p.R469Q|PRC1-AS1_ENST00000556200.1_RNA					protein regulator of cytokinesis 1									p.R469Q(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCTAGGTGTTCGAGGAGCGCT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		17358	0.0		0.0	False		,,,				2504	0.001				p.R469Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1406A	15						.	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4396		0,0,2198	206.0	172.0	184.0		1406,1406,1406	4.4	0.4	15	dbSNP_134	184	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense,missense	PRC1	NM_003981.2,NM_199413.1,NM_199414.1	43,43,43	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	469/621,469/607,469/567	91517421	2,12990	2198	4298	6496	89318425	SO:0001583	missense	9055	exon11			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1406G>A	15.37:g.91517421C>T	ENSP00000354679:p.Arg469Gln		89318425	NM_003981		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700053	0.48307	0.0	2.33E-4	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.37	4.45	0.53987	.	0.110609	0.64402	D	0.000020	T	0.30135	0.0755	M	0.73598	2.24	0.25962	N	0.982615	P;P;P;P	0.39831	0.64;0.64;0.64;0.69	B;B;B;B	0.36845	0.15;0.15;0.15;0.234	T	0.18871	-1.0323	10	0.17369	T	0.5	-8.0367	10.2728	0.43493	0.0:0.8487:0.0:0.1513	.	428;469;439;469	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	Q	469;469;469;72;428	ENSP00000377793:R469Q;ENSP00000354618:R469Q;ENSP00000354679:R469Q;ENSP00000409549:R428Q	ENSP00000354679:R469Q	R	-	2	0	PRC1	89318425	0.007000	0.16637	0.415000	0.26534	0.583000	0.36354	2.081000	0.41596	1.496000	0.48567	0.650000	0.86243	CGA		0.493	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981	
PRC1	9055	broad.mit.edu	37	15	91527973	91527973	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:91527973G>A	ENST00000361188.5	-	2	1305	c.94C>T	c.(94-96)Cca>Tca	p.P32S	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.P32S|PRC1_ENST00000442656.2_Missense_Mutation_p.P32S|PRC1_ENST00000556129.1_5'UTR|PRC1_ENST00000361919.3_Missense_Mutation_p.P32S					protein regulator of cytokinesis 1									p.P32S(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TGGTCCTCTGGAATCCCAATT	0.468																																					p.P32S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C94T	15						.						259.0	252.0	254.0					15																	91527973		2198	4298	6496	89328977	SO:0001583	missense	9055	exon2			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.94C>T	15.37:g.91527973G>A	ENSP00000354679:p.Pro32Ser		89328977	NM_003981		Missense_Mutation	SNP	ENST00000361188.5	37	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641976	0.87859	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656	T;T;T;T	0.27890	1.69;1.7;1.69;1.64	5.65	4.71	0.59529	.	0.052730	0.85682	N	0.000000	T	0.44286	0.1286	M	0.69823	2.125	0.80722	D	1	P;P;P;P	0.48503	0.845;0.911;0.851;0.855	P;P;P;P	0.54590	0.674;0.756;0.674;0.574	T	0.14062	-1.0486	10	0.10636	T	0.68	0.0037	14.8641	0.70401	0.0706:0.0:0.9294:0.0	.	32;32;32;32	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	S	32	ENSP00000377793:P32S;ENSP00000354618:P32S;ENSP00000354679:P32S;ENSP00000409549:P32S	ENSP00000354679:P32S	P	-	1	0	PRC1	89328977	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.770000	0.74990	2.941000	0.99782	0.655000	0.94253	CCA		0.468	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981	
VPS33B	26276	broad.mit.edu	37	15	91543787	91543787	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:91543787A>G	ENST00000333371.3	-	20	1867	c.1514T>C	c.(1513-1515)gTg>gCg	p.V505A	VPS33B_ENST00000535843.1_Missense_Mutation_p.V414A|VPS33B_ENST00000535906.1_Missense_Mutation_p.V478A	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	505					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)		p.V505A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTCTCGGGGCACTTTCAGATC	0.502																																					p.V505A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1514C	15						.						121.0	97.0	105.0					15																	91543787		2198	4298	6496	89344791	SO:0001583	missense	26276	exon20			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1514T>C	15.37:g.91543787A>G	ENSP00000327650:p.Val505Ala		89344791	NM_018668	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.124242	0.37533	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.75821	-0.97;-0.97;-0.97	5.83	5.83	0.93111	.	0.182827	0.49305	D	0.000146	T	0.52773	0.1755	N	0.14661	0.345	0.42596	D	0.993268	B;B	0.14805	0.009;0.011	B;B	0.19148	0.014;0.024	T	0.50285	-0.8846	10	0.08599	T	0.76	-7.549	8.3172	0.32108	0.8519:0.0:0.1481:0.0	.	478;505	F5H008;Q9H267	.;VP33B_HUMAN	A	505;478;414;460	ENSP00000327650:V505A;ENSP00000444053:V478A;ENSP00000446267:V414A	ENSP00000327650:V505A	V	-	2	0	VPS33B	89344791	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.754000	0.55189	2.219000	0.72066	0.528000	0.53228	GTG		0.502	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668	
SV2B	9899	broad.mit.edu	37	15	91803627	91803627	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:91803627G>T	ENST00000394232.1	+	6	1466	c.996G>T	c.(994-996)gaG>gaT	p.E332D	SV2B_ENST00000330276.4_Missense_Mutation_p.E332D|SV2B_ENST00000545111.2_Missense_Mutation_p.E181D	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	332					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.E332D(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACCCCAGAGAAAGTGTTCA	0.458																																					p.E332D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G996T	15						.						106.0	106.0	106.0					15																	91803627		2198	4298	6496	89604631	SO:0001583	missense	9899	exon7			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.996G>T	15.37:g.91803627G>T	ENSP00000377779:p.Glu332Asp		89604631	NM_014848	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936002	0.52972	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.63913	-0.02;-0.07;-0.07	4.72	2.78	0.32641	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.70903	2.155	0.52501	D	0.999959	P	0.38827	0.649	P	0.46339	0.513	T	0.54918	-0.8221	10	0.14656	T	0.56	-11.3899	8.2672	0.31821	0.2579:0.0:0.7421:0.0	.	332	Q7L1I2	SV2B_HUMAN	D	181;332;332	ENSP00000443243:E181D;ENSP00000377779:E332D;ENSP00000332818:E332D	ENSP00000332818:E332D	E	+	3	2	SV2B	89604631	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	3.089000	0.50183	0.487000	0.27698	0.561000	0.74099	GAG		0.458	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848	
SLCO3A1	28232	broad.mit.edu	37	15	92663824	92663824	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:92663824T>G	ENST00000318445.6	+	5	1353	c.1139T>G	c.(1138-1140)tTt>tGt	p.F380C	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.F380C|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	380					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.F380C(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GAGCAGCAGTTTAACCTCACC	0.567																																					p.F380C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1139G	15						.						180.0	167.0	172.0					15																	92663824		2198	4298	6496	90464828	SO:0001583	missense	28232	exon5			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1139T>G	15.37:g.92663824T>G	ENSP00000320634:p.Phe380Cys		90464828	NM_013272	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440596	0.83993	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.54279	0.58;0.58	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.994;0.999	D	0.85389	0.1124	10	0.87932	D	0	.	15.0681	0.72011	0.0:0.0:0.0:1.0	.	322;380;380	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	C	380;380;99	ENSP00000320634:F380C;ENSP00000387846:F380C	ENSP00000320634:F380C	F	+	2	0	SLCO3A1	90464828	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.478000	0.81082	1.959000	0.56917	0.528000	0.53228	TTT		0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272	
ST8SIA2	8128	broad.mit.edu	37	15	92981823	92981823	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:92981823C>T	ENST00000268164.3	+	4	768	c.531C>T	c.(529-531)gcC>gcT	p.A177A	ST8SIA2_ENST00000539113.1_Silent_p.A156A	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	177					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.A177A(1)		endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGATTGACGCCCACAGCTTCG	0.597																																					p.A177A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C531T	15						.						38.0	33.0	35.0					15																	92981823		2198	4298	6496	90782827	SO:0001819	synonymous_variant	8128	exon4			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.531C>T	15.37:g.92981823C>T			90782827	NM_006011	Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	CCDS10372.1																																																																																				0.597	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011	
MCTP2	55784	broad.mit.edu	37	15	94841631	94841631	+	Missense_Mutation	SNP	G	G	A	rs61735139	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:94841631G>A	ENST00000357742.4	+	1	137	c.137G>A	c.(136-138)cGc>cAc	p.R46H	MCTP2_ENST00000451018.3_Missense_Mutation_p.R46H|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.R46H	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	46					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.R46H(2)		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)			CACTTGGACCGCCGTCTCAGC	0.587													G|||	6	0.00119808	0.0038	0.0014	5008	,	,		15580	0.0		0.0	False		,,,				2504	0.0				p.R46H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G137A	15						.						62.0	65.0	64.0					15																	94841631		2197	4298	6495	92642635	SO:0001583	missense	55784	exon1			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.137G>A	15.37:g.94841631G>A	ENSP00000350377:p.Arg46His		92642635	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971150	0.53614	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.74632	-0.86;-0.59;-0.43	5.17	5.17	0.71159	.	0.000000	0.50627	D	0.000104	T	0.56572	0.1994	N	0.19112	0.55	0.80722	D	1	P;B;B;P;P	0.49559	0.765;0.257;0.167;0.877;0.925	B;B;B;B;B	0.38327	0.125;0.039;0.018;0.139;0.271	T	0.59332	-0.7474	10	0.33940	T	0.23	.	11.7616	0.51908	0.0816:0.0:0.9184:0.0	rs61735139	46;46;46;46;46	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	H	46	ENSP00000438521:R46H;ENSP00000395109:R46H;ENSP00000350377:R46H	ENSP00000350377:R46H	R	+	2	0	MCTP2	92642635	1.000000	0.71417	0.984000	0.44739	0.398000	0.30690	4.789000	0.62446	2.421000	0.82119	0.655000	0.94253	CGC		0.587	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
MCTP2	55784	broad.mit.edu	37	15	94882595	94882595	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:94882595G>A	ENST00000357742.4	+	4	714	c.714G>A	c.(712-714)ttG>ttA	p.L238L	MCTP2_ENST00000451018.3_Silent_p.L238L|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Silent_p.L238L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	238	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.L238L(1)|p.L238F(1)		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)			ATAAGAACTTGAACCCAGTAT	0.363																																					p.L238L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|breast(1)	c.G714A	15						.						113.0	116.0	115.0					15																	94882595		2197	4298	6495	92683599	SO:0001819	synonymous_variant	55784	exon4			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.714G>A	15.37:g.94882595G>A			92683599	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	CCDS32338.1																																																																																				0.363	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
MCTP2	55784	broad.mit.edu	37	15	94913352	94913352	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:94913352G>A	ENST00000357742.4	+	11	1525	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S	MCTP2_ENST00000451018.3_Missense_Mutation_p.G509S|MCTP2_ENST00000331706.4_Missense_Mutation_p.G97S|MCTP2_ENST00000557742.1_Missense_Mutation_p.G97S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	509	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.G509S(1)		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)			GAAAGACGTCGGCATTCTACA	0.358																																					p.G509S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1525A	15						.						94.0	92.0	93.0					15																	94913352		2197	4298	6495	92714356	SO:0001583	missense	55784	exon11			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.1525G>A	15.37:g.94913352G>A	ENSP00000350377:p.Gly509Ser		92714356	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123440	0.77436	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.75050	-0.9;-0.8;-0.73	5.98	5.98	0.97165	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.87537	0.6202	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.99;1.0;1.0	D	0.87648	0.2526	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	509;97;509	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	S	509;97;509	ENSP00000395109:G509S;ENSP00000329646:G97S;ENSP00000350377:G509S	ENSP00000329646:G97S	G	+	1	0	MCTP2	92714356	1.000000	0.71417	0.901000	0.35422	0.241000	0.25554	7.769000	0.85360	2.835000	0.97688	0.650000	0.86243	GGC		0.358	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
MCTP2	55784	broad.mit.edu	37	15	95013638	95013638	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:95013638T>G	ENST00000357742.4	+	20	2437	c.2437T>G	c.(2437-2439)Ttc>Gtc	p.F813V	MCTP2_ENST00000451018.3_Missense_Mutation_p.F758V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	813					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.F813V(1)		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)			CATTTTGTATTTCATTCCACT	0.398																																					p.F758V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2272G	15						.						179.0	170.0	173.0					15																	95013638		2197	4298	6495	92814642	SO:0001583	missense	55784	exon18			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.2437T>G	15.37:g.95013638T>G	ENSP00000350377:p.Phe813Val		92814642	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.674964	0.47781	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.65916	-0.18;0.04	5.32	4.19	0.49359	Phosphoribosyltransferase C-terminal (1);	0.262894	0.44902	D	0.000403	T	0.59459	0.2195	M	0.70595	2.14	0.80722	D	1	P;B	0.35575	0.51;0.02	B;B	0.36567	0.228;0.032	T	0.55159	-0.8184	10	0.24483	T	0.36	.	11.1648	0.48537	0.0:0.0725:0.0:0.9275	.	758;813	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	V	758;813	ENSP00000395109:F758V;ENSP00000350377:F813V	ENSP00000350377:F813V	F	+	1	0	MCTP2	92814642	1.000000	0.71417	0.992000	0.48379	0.737000	0.42083	4.180000	0.58296	0.957000	0.37930	0.528000	0.53228	TTC		0.398	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
FAM169B	283777	broad.mit.edu	37	15	99023939	99023939	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:99023939C>A	ENST00000558256.1	-	4	323	c.74G>T	c.(73-75)aGa>aTa	p.R25I	FAM169B_ENST00000332908.4_Missense_Mutation_p.R25I	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	25								p.R25I(1)		large_intestine(3)|lung(3)|urinary_tract(1)	7						ATCCAAATTTCTCTCCAATCT	0.393																																					p.R25I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G74T	15						.						94.0	92.0	93.0					15																	99023939		1873	4102	5975	96841462	SO:0001583	missense	283777	exon4				CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.74G>T	15.37:g.99023939C>A	ENSP00000453554:p.Arg25Ile		96841462	NM_182562	B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098627	0.76870	.	.	ENSG00000185087	ENST00000332908	T	0.72282	-0.64	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000016	T	0.75302	0.3831	L	0.34521	1.04	0.41717	D	0.989487	D	0.76494	0.999	D	0.67548	0.952	T	0.77988	-0.2380	10	0.72032	D	0.01	-13.8265	13.257	0.60085	0.0:0.8406:0.1594:0.0	.	25	Q8N8A8	F169B_HUMAN	I	25	ENSP00000332615:R25I	ENSP00000332615:R25I	R	-	2	0	FAM169B	96841462	0.977000	0.34250	0.954000	0.39281	0.991000	0.79684	1.673000	0.37534	2.447000	0.82792	0.655000	0.94253	AGA		0.393	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562	
MEF2A	4205	broad.mit.edu	37	15	100185823	100185823	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:100185823C>T	ENST00000557785.1	+	4	461	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F	MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000453228.2_Missense_Mutation_p.L38F|MEF2A_ENST00000354410.5_Missense_Mutation_p.L38F|MEF2A_ENST00000338042.6_Missense_Mutation_p.L38F|MEF2A_ENST00000557942.1_Missense_Mutation_p.L38F	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	38	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.L38F(3)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ACTTAGTGTGCTCTGTGACTG	0.318																																					p.L38F												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C112T	15						.						98.0	97.0	97.0					15																	100185823		1937	4157	6094	98003346	SO:0001583	missense	4205	exon4				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.112C>T	15.37:g.100185823C>T	ENSP00000453441:p.Leu38Phe		98003346	NM_005587	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547332	0.86022	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042	D;D;D	0.95238	-3.65;-3.65;-3.65	5.19	5.19	0.71726	Transcription factor, MADS-box (7);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	H	0.99074	4.42	0.53688	D	0.999975	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	D	0.99764	1.1022	10	0.87932	D	0	-12.7988	18.7001	0.91617	0.0:1.0:0.0:0.0	.	38;38;38;38	Q02078;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.	F	38	ENSP00000404110:L38F;ENSP00000346389:L38F;ENSP00000337202:L38F	ENSP00000337202:L38F	L	+	1	0	MEF2A	98003346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.052000	0.71080	2.411000	0.81874	0.591000	0.81541	CTC		0.318	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1		
MEF2A	4205	broad.mit.edu	37	15	100211641	100211641	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:100211641T>G	ENST00000557785.1	+	5	721	c.372T>G	c.(370-372)ttT>ttG	p.F124L	MEF2A_ENST00000558812.1_Missense_Mutation_p.F56L|MEF2A_ENST00000449277.2_Missense_Mutation_p.F56L|MEF2A_ENST00000453228.2_Missense_Mutation_p.F124L|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000338042.6_Missense_Mutation_p.F124L|MEF2A_ENST00000557942.1_Missense_Mutation_p.F124L	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	124					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.F124L(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			ATAGTGATTTTATTTTCAAAC	0.378																																					p.F124L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T372G	15						.						172.0	159.0	163.0					15																	100211641		1568	3582	5150	98029164	SO:0001583	missense	4205	exon6				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.372T>G	15.37:g.100211641T>G	ENSP00000453441:p.Phe124Leu		98029164	NM_001171894	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	T	7.091	0.572243	0.13623	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.62498	0.02;0.02;0.02	5.4	5.4	0.78164	.	.	.	.	.	T	0.40694	0.1127	N	0.03194	-0.395	0.31575	N	0.655833	B;B;B;B	0.27971	0.0;0.196;0.0;0.064	B;B;B;B	0.35859	0.002;0.212;0.001;0.123	T	0.30909	-0.9962	9	0.02654	T	1	.	15.7087	0.77606	0.0:0.0:0.0:1.0	.	56;45;124;124	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	L	124;124;56	ENSP00000404110:F124L;ENSP00000337202:F124L;ENSP00000399460:F56L	ENSP00000337202:F124L	F	+	3	2	MEF2A	98029164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.777000	0.62361	2.175000	0.68902	0.459000	0.35465	TTT		0.378	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1		
CHSY1	22856	broad.mit.edu	37	15	101718112	101718112	+	Silent	SNP	G	G	A	rs140710779	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr15:101718112G>A	ENST00000254190.3	-	3	2365	c.1890C>T	c.(1888-1890)tgC>tgT	p.C630C	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	630					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGTCGACGTCGCAGAAGAAGA	0.458													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20702	0.0		0.001	False		,,,				2504	0.0				p.C630C												.	.	0			c.C1890T	15						.	G		5,4401	9.9+/-24.2	0,5,2198	66.0	62.0	63.0		1890	-2.8	0.8	15	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	CHSY1	NM_014918.4		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		630/803	101718112	5,13001	2203	4300	6503	99535635	SO:0001819	synonymous_variant	22856	exon3			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1890C>T	15.37:g.101718112G>A			99535635	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	CCDS10390.1																																																																																				0.458	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
GLYR1	84656	broad.mit.edu	37	16	4855292	4855293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:4855292_4855293insC	ENST00000321919.9	-	16	1682_1683	c.1606_1607insG	c.(1606-1608)gcgfs	p.A536fs	GLYR1_ENST00000436648.5_Frame_Shift_Ins_p.A455fs|ROGDI_ENST00000322048.7_5'Flank|GLYR1_ENST00000591451.1_Frame_Shift_Ins_p.A530fs|GLYR1_ENST00000381983.3_Frame_Shift_Ins_p.A519fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	536					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.A536fs*6(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CTGGTCCAGCGCCTTGGCTCTT	0.569																																					p.A536fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1607_1608insG	16						.																																			4795294	SO:0001589	frameshift_variant	84656	exon16			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"""nuclear protein 60kDa"""	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1607dupG	16.37:g.4855294_4855294dupC	ENSP00000322716:p.Ala536fs		4795293	NM_032569	B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Ins	INS	ENST00000321919.9	37	CCDS10524.1																																																																																				0.569	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251717.2	NM_032569	
NUBP1	4682	broad.mit.edu	37	16	10855313	10855313	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:10855313C>T	ENST00000283027.5	+	8	718	c.699C>T	c.(697-699)ttC>ttT	p.F233F	TVP23A_ENST00000572980.1_5'UTR|NUBP1_ENST00000433392.2_Silent_p.F222F|NUBP1_ENST00000571790.1_3'UTR	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TGAGTGGCTTCATCTGTCCTA	0.552																																					p.F233F												.	.	0			c.C699T	16						.						104.0	91.0	96.0					16																	10855313		2197	4300	6497	10762814	SO:0001819	synonymous_variant	4682	exon8			U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"""nucleotide binding protein 1 (E.coli MinD like)"", ""nucleotide binding protein 1 (MinD homolog, E. coli)"""	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.699C>T	16.37:g.10855313C>T			10762814	NM_002484		Silent	SNP	ENST00000283027.5	37	CCDS10543.1																																																																																				0.552	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251964.2	NM_002484	
TXNDC11	51061	broad.mit.edu	37	16	11791984	11791984	+	Silent	SNP	G	G	A	rs150603831	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:11791984G>A	ENST00000356957.3	-	8	1292	c.1185C>T	c.(1183-1185)gaC>gaT	p.D395D	TXNDC11_ENST00000283033.5_Silent_p.D368D			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	395					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)	p.D368D(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTCTTACCTCGTCTATTAAAG	0.483													G|||	14	0.00279553	0.0098	0.0014	5008	,	,		22249	0.0		0.0	False		,,,				2504	0.0				p.D368D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1104T	16						.	G		28,4366	34.3+/-65.2	0,28,2169	103.0	102.0	102.0		1104	0.7	1.0	16	dbSNP_134	102	0,8600		0,0,4300	no	coding-synonymous	TXNDC11	NM_015914.5		0,28,6469	AA,AG,GG		0.0,0.6372,0.2155		368/959	11791984	28,12966	2197	4300	6497	11699485	SO:0001819	synonymous_variant	51061	exon7			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.1185C>T	16.37:g.11791984G>A			11699485	NM_015914	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	ENST00000356957.3	37																																																																																					0.483	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914	
TXNDC11	51061	broad.mit.edu	37	16	11792098	11792098	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:11792098C>A	ENST00000356957.3	-	8	1178	c.1071G>T	c.(1069-1071)tgG>tgT	p.W357C	TXNDC11_ENST00000283033.5_Missense_Mutation_p.W330C			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	357					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						GTGGCCGCAGCCACCGAAAGA	0.532																																					p.W330C												.	.	0			c.G990T	16						.						88.0	91.0	90.0					16																	11792098		2197	4300	6497	11699599	SO:0001583	missense	51061	exon7			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.1071G>T	16.37:g.11792098C>A	ENSP00000349439:p.Trp357Cys		11699599	NM_015914	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.213203	0.79352	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.32515	1.45;1.45	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56547	-0.7961	10	0.59425	D	0.04	-29.1814	19.2073	0.93736	0.0:1.0:0.0:0.0	.	357;330	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	C	357;330	ENSP00000349439:W357C;ENSP00000283033:W330C	ENSP00000283033:W330C	W	-	3	0	TXNDC11	11699599	1.000000	0.71417	0.999000	0.59377	0.720000	0.41350	6.983000	0.76180	2.780000	0.95670	0.655000	0.94253	TGG		0.532	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914	
SNX29	92017	broad.mit.edu	37	16	12136879	12136879	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:12136879G>A	ENST00000566228.1	+	5	442	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	125	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.E125K(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGCCCTCAACGAACACTCCCT	0.662																																					p.E125K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373A	16						.						38.0	32.0	34.0					16																	12136879		2197	4300	6497	12044380	SO:0001583	missense	84127	exon5			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.373G>A	16.37:g.12136879G>A	ENSP00000456480:p.Glu125Lys		12044380	NM_032167	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	36	5.898745	0.97081	.	.	ENSG00000140660	ENST00000268271	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.76399	0.3982	M	0.73430	2.235	0.80722	D	1	.	.	.	.	.	.	T	0.79725	-0.1683	7	0.87932	D	0	-17.6236	16.8321	0.85947	0.0:0.0:1.0:0.0	.	.	.	.	K	125	.	ENSP00000268271:E125K	E	+	1	0	RUNDC2A	12044380	1.000000	0.71417	0.972000	0.41901	0.948000	0.59901	9.354000	0.97083	2.555000	0.86185	0.462000	0.41574	GAA		0.662	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1		
PARN	5073	broad.mit.edu	37	16	14711476	14711476	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:14711476C>T	ENST00000437198.2	-	6	500	c.359G>A	c.(358-360)gGa>gAa	p.G120E	PARN_ENST00000566021.1_Intron|PARN_ENST00000539279.1_Intron|PARN_ENST00000341484.7_Missense_Mutation_p.G59E|PARN_ENST00000420015.2_Missense_Mutation_p.G74E	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	120					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.G120E(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						AAAATCAAATCCCTGGCTTGC	0.368																																					p.G120E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G359A	16						.						68.0	65.0	66.0					16																	14711476		1824	4084	5908	14618977	SO:0001583	missense	5073	exon6			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.359G>A	16.37:g.14711476C>T	ENSP00000387911:p.Gly120Glu		14618977	NM_002582	B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	ENST00000437198.2	37	CCDS45419.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091526	0.94149	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000538472	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.95	5.95	0.96441	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	M	0.84948	2.725	0.80722	D	1	D;D	0.64830	0.991;0.994	D;D	0.64595	0.927;0.919	T	0.64715	-0.6342	10	0.72032	D	0.01	-20.7403	19.3813	0.94536	0.0:1.0:0.0:0.0	.	74;120	B4DWR4;O95453	.;PARN_HUMAN	E	120;59;74;103	ENSP00000387911:G120E;ENSP00000345456:G59E;ENSP00000410525:G74E;ENSP00000445659:G103E	ENSP00000345456:G59E	G	-	2	0	PARN	14618977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.730000	0.74780	2.824000	0.97209	0.655000	0.94253	GGA		0.368	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582	
NOMO1	23420	broad.mit.edu	37	16	14973918	14973918	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:14973918T>G	ENST00000287667.7	+	24	2975	c.2804T>G	c.(2803-2805)tTt>tGt	p.F935C		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	935						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.F935C(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GAGTTCCGGTTTGAGCCATCC	0.527																																					p.F935C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2804G	16						.						69.0	71.0	70.0					16																	14973918		2063	4080	6143	14881419	SO:0001583	missense	23420	exon24			X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2804T>G	16.37:g.14973918T>G	ENSP00000287667:p.Phe935Cys		14881419	NM_014287	P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	18.12	3.553583	0.65425	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.10382	2.88	3.04	3.04	0.35103	Carbohydrate-binding-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32971	0.0847	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.12837	-1.0532	10	0.72032	D	0.01	-16.7963	9.5165	0.39109	0.0:0.0:0.0:1.0	.	935	Q15155	NOMO1_HUMAN	C	935;935;768	ENSP00000287667:F935C	ENSP00000287667:F935C	F	+	2	0	NOMO1	14881419	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.449000	0.80643	1.390000	0.46547	0.327000	0.21459	TTT		0.527	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1		
NTAN1	123803	broad.mit.edu	37	16	15141729	15141729	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:15141729A>C	ENST00000287706.3	-	3	325	c.233T>G	c.(232-234)gTg>gGg	p.V78G	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	78					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)	p.V78G(1)		endometrium(1)|large_intestine(4)|lung(3)	8						CCTCAGGACCACAATGTGACA	0.413																																					p.V78G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T233G	16						.						242.0	245.0	244.0					16																	15141729		2197	4300	6497	15049230	SO:0001583	missense	123803	exon3			AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.233T>G	16.37:g.15141729A>C	ENSP00000287706:p.Val78Gly		15049230	NM_173474	Q7Z4Z0	Missense_Mutation	SNP	ENST00000287706.3	37	CCDS10558.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763857	0.69878	.	.	ENSG00000157045	ENST00000287706	T	0.39406	1.08	5.39	4.31	0.51392	.	0.147419	0.45361	D	0.000368	T	0.56731	0.2005	M	0.79693	2.465	0.80722	D	1	P	0.49783	0.928	P	0.53760	0.734	T	0.61372	-0.7076	10	0.87932	D	0	-4.9123	10.4568	0.44555	0.9235:0.0:0.0765:0.0	.	78	Q96AB6	NTAN1_HUMAN	G	78	ENSP00000287706:V78G	ENSP00000287706:V78G	V	-	2	0	NTAN1	15049230	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.669000	0.83911	0.985000	0.38656	0.528000	0.53228	GTG		0.413	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252089.1	NM_173474	
IFT140	9742	broad.mit.edu	37	16	1642286	1642286	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:1642286G>A	ENST00000426508.2	-	6	888	c.525C>T	c.(523-525)agC>agT	p.S175S	IFT140_ENST00000439987.2_5'UTR|LA16c-395F10.2_ENST00000563162.1_RNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	175					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.S175S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TCTCATCACCGCTCACAGCTG	0.532																																					p.S175S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C525T	16						.						147.0	138.0	141.0					16																	1642286		2199	4300	6499	1582287	SO:0001819	synonymous_variant	9742	exon6			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.525C>T	16.37:g.1642286G>A			1582287	NM_014714	A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	CCDS10439.1																																																																																				0.532	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
KIAA0430	9665	broad.mit.edu	37	16	15719020	15719020	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:15719020C>T	ENST00000396368.3	-	9	2170	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H	KIAA0430_ENST00000602337.1_Missense_Mutation_p.R652H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R652H|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R512H|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R654H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	655					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R655H(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGACTCCATGCGGCACAGCTC	0.463																																					p.R652H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1955A	16						.						53.0	54.0	53.0					16																	15719020		2002	4182	6184	15626521	SO:0001583	missense	9665	exon9			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1964G>A	16.37:g.15719020C>T	ENSP00000379654:p.Arg655His		15626521	NM_001184999	A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026658	0.54683	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742	.	.	.	5.87	2.89	0.33648	.	0.385135	0.29822	N	0.011113	T	0.55577	0.1929	L	0.60455	1.87	0.80722	D	1	B;B;B;B	0.20164	0.018;0.042;0.042;0.005	B;B;B;B	0.15870	0.009;0.014;0.014;0.003	T	0.53287	-0.8460	9	0.72032	D	0.01	.	9.5646	0.39391	0.0:0.7846:0.0:0.2154	.	653;652;651;654	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	H	655;512;654;652;654	.	ENSP00000315718:R654H	R	-	2	0	KIAA0430	15626521	0.058000	0.20735	0.549000	0.28204	0.993000	0.82548	0.209000	0.17435	0.401000	0.25424	0.591000	0.81541	CGC		0.463	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647	
FOPNL	123811	broad.mit.edu	37	16	15967359	15967359	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:15967359C>A	ENST00000255759.6	-	4	466	c.437G>T	c.(436-438)aGa>aTa	p.R146I	FOPNL_ENST00000573968.1_Intron|FOPNL_ENST00000573429.1_Missense_Mutation_p.R170I|FOPNL_ENST00000573396.1_Intron|FOPNL_ENST00000575744.1_Missense_Mutation_p.R80I|FOPNL_ENST00000575073.1_Intron	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	146					cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.R146I(1)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						CATTGGCTTTCTTCTACTAGG	0.398																																					p.R146I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437T	16						.						76.0	74.0	74.0					16																	15967359		2197	4300	6497	15874860	SO:0001583	missense	123811	exon4			AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"""pluripotent embryonic stem cell-related protein"", ""FOP-related protein of 20 kDa"""		"""chromosome 16 open reading frame 63"""	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.437G>T	16.37:g.15967359C>A	ENSP00000255759:p.Arg146Ile		15874860	NM_144600	B3KPU9	Missense_Mutation	SNP	ENST00000255759.6	37	CCDS10567.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078958	0.36662	.	.	ENSG00000133393	ENST00000255759	.	.	.	5.63	4.48	0.54585	.	0.222726	0.42821	D	0.000656	T	0.29783	0.0744	L	0.29908	0.895	0.23050	N	0.998379	P	0.43169	0.8	B	0.42462	0.388	T	0.22173	-1.0224	9	0.59425	D	0.04	-16.9073	12.2711	0.54706	0.0:0.9061:0.0:0.0939	.	146	Q96NB1	FOPNL_HUMAN	I	146	.	ENSP00000255759:R146I	R	-	2	0	FOPNL	15874860	0.999000	0.42202	0.175000	0.22980	0.037000	0.13140	1.839000	0.39220	2.644000	0.89710	0.563000	0.77884	AGA		0.398	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252177.2	NM_144600	
NOMO2	283820	broad.mit.edu	37	16	18549977	18549977	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:18549977G>T	ENST00000381474.3	-	11	1156	c.1091C>A	c.(1090-1092)tCa>tAa	p.S364*	NOMO2_ENST00000330537.6_Nonsense_Mutation_p.S364*|NOMO2_ENST00000543392.1_Nonsense_Mutation_p.S197*	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	364						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S364*(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						AAGGCGGAATGAGCCATCAGC	0.403																																					p.S364X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1091A	16						.						39.0	31.0	34.0					16																	18549977		1571	3244	4815	18457478	SO:0001587	stop_gained	283820	exon11			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1091C>A	16.37:g.18549977G>T	ENSP00000370883:p.Ser364*		18457478	NM_001004060	Q4G177	Nonsense_Mutation	SNP	ENST00000381474.3	37	CCDS32394.1	.	.	.	.	.	.	.	.	.	.	.	36	5.710019	0.96821	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	.	.	.	2.57	2.57	0.30868	.	0.069953	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-5.7231	12.4834	0.55856	0.0:0.0:1.0:0.0	.	.	.	.	X	364;364;197	.	ENSP00000331851:S364X	S	-	2	0	NOMO2	18457478	1.000000	0.71417	0.980000	0.43619	0.892000	0.51952	9.198000	0.94994	1.416000	0.47057	0.400000	0.26472	TCA		0.403	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060	
SMG1	23049	broad.mit.edu	37	16	18826776	18826776	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:18826776T>G	ENST00000446231.2	-	59	10912	c.10500A>C	c.(10498-10500)aaA>aaC	p.K3500N	SMG1_ENST00000389467.3_Missense_Mutation_p.K3501N			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3500					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GACTTTGTGTTTTCAGTTCTT	0.358																																					p.K3500N												.	.	0			c.A10500C	16						.						145.0	125.0	131.0					16																	18826776		1846	4094	5940	18734277	SO:0001583	missense	23049	exon59			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10500A>C	16.37:g.18826776T>G	ENSP00000402515:p.Lys3500Asn		18734277	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884815	0.51908	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01106	5.33;5.33	5.99	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.01254	0.0041	L	0.29908	0.895	0.30599	N	0.760727	B	0.19583	0.037	B	0.18871	0.023	T	0.26573	-1.0099	10	0.30854	T	0.27	.	11.0377	0.47811	0.0:0.0738:0.0:0.9262	.	3500	Q96Q15	SMG1_HUMAN	N	3500;3501	ENSP00000402515:K3500N;ENSP00000374118:K3501N	ENSP00000374118:K3501N	K	-	3	2	SMG1	18734277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.214000	0.51161	1.102000	0.41551	0.533000	0.62120	AAA		0.358	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SMG1	23049	broad.mit.edu	37	16	18841655	18841655	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:18841655C>T	ENST00000446231.2	-	52	9241	c.8829G>A	c.(8827-8829)ccG>ccA	p.P2943P	SMG1_ENST00000389467.3_Silent_p.P2943P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2943					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P2939P(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AACCATTTCTCGGTTGGATTA	0.413																																					p.P2943P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G8829A	16						.						79.0	73.0	75.0					16																	18841655		1873	4110	5983	18749156	SO:0001819	synonymous_variant	23049	exon52			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8829G>A	16.37:g.18841655C>T			18749156	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SMG1	23049	broad.mit.edu	37	16	18847697	18847697	+	Missense_Mutation	SNP	T	T	C	rs547346139		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:18847697T>C	ENST00000446231.2	-	47	8174	c.7762A>G	c.(7762-7764)Aca>Gca	p.T2588A	SMG1_ENST00000389467.3_Missense_Mutation_p.T2588A			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2588					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T2584A(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCCATTTGTGTGCTTATCTCT	0.383													T|||	1	0.000199681	0.0008	0.0	5008	,	,		23585	0.0		0.0	False		,,,				2504	0.0				p.T2588A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A7762G	16						.						115.0	107.0	110.0					16																	18847697		1914	4130	6044	18755198	SO:0001583	missense	23049	exon47			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7762A>G	16.37:g.18847697T>C	ENSP00000402515:p.Thr2588Ala		18755198	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700579	0.48307	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01025	5.43;5.43	6.17	5.07	0.68467	Armadillo-type fold (1);	0.079417	0.53938	D	0.000048	T	0.00875	0.0029	N	0.12182	0.205	0.29472	N	0.856973	B	0.14012	0.009	B	0.12156	0.007	T	0.40365	-0.9567	10	0.42905	T	0.14	.	12.9558	0.58427	0.1214:0.0:0.0:0.8786	.	2588	Q96Q15	SMG1_HUMAN	A	2588	ENSP00000402515:T2588A;ENSP00000374118:T2588A	ENSP00000374118:T2588A	T	-	1	0	SMG1	18755198	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.158000	0.58150	1.129000	0.42072	0.533000	0.62120	ACA		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SMG1	23049	broad.mit.edu	37	16	18875117	18875117	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:18875117T>G	ENST00000446231.2	-	25	3962	c.3550A>C	c.(3550-3552)Aat>Cat	p.N1184H	SMG1_ENST00000389467.3_Missense_Mutation_p.N1184H			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1184	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.N1180H(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTAAATAATTTATAACCTCA	0.398																																					p.N1184H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3550C	16						.						35.0	36.0	36.0					16																	18875117		905	2032	2937	18782618	SO:0001583	missense	23049	exon25			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.3550A>C	16.37:g.18875117T>G	ENSP00000402515:p.Asn1184His		18782618	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	.	17.94	3.510395	0.64522	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.67865	-0.29;-0.29	4.48	4.48	0.54585	PIK-related kinase (1);Armadillo-type fold (1);	0.110728	0.39475	U	0.001358	T	0.66228	0.2768	N	0.22421	0.69	0.28406	N	0.918422	D	0.69078	0.997	P	0.60789	0.879	T	0.60722	-0.7207	10	0.25751	T	0.34	.	14.1301	0.65247	0.0:0.0:0.0:1.0	.	1184	Q96Q15	SMG1_HUMAN	H	1184	ENSP00000402515:N1184H;ENSP00000374118:N1184H	ENSP00000374118:N1184H	N	-	1	0	SMG1	18782618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.206000	0.72154	1.806000	0.52798	0.449000	0.29647	AAT		0.398	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SMG1	23049	broad.mit.edu	37	16	18881983	18881983	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:18881983C>T	ENST00000446231.2	-	18	2853	c.2441G>A	c.(2440-2442)cGa>cAa	p.R814Q	SMG1_ENST00000389467.3_Missense_Mutation_p.R814Q|snoU13_ENST00000459248.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	814	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R810Q(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAATGCTTGTCGAATACGAGT	0.383																																					p.R814Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2441A	16						.						36.0	30.0	32.0					16																	18881983		1866	4111	5977	18789484	SO:0001583	missense	23049	exon18			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.2441G>A	16.37:g.18881983C>T	ENSP00000402515:p.Arg814Gln		18789484	NM_015092	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390687	0.95988	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.73047	-0.71;-0.71	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.47093	D	0.000258	T	0.76772	0.4034	L	0.35341	1.055	0.40123	D	0.976629	D	0.64830	0.994	P	0.61201	0.885	T	0.75855	-0.3170	10	0.42905	T	0.14	.	20.0341	0.97551	0.0:1.0:0.0:0.0	.	814	Q96Q15	SMG1_HUMAN	Q	814	ENSP00000402515:R814Q;ENSP00000374118:R814Q	ENSP00000374118:R814Q	R	-	2	0	SMG1	18789484	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.972000	0.76110	2.753000	0.94483	0.555000	0.69702	CGA		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
GPRC5B	51704	broad.mit.edu	37	16	19883322	19883322	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:19883322G>T	ENST00000300571.2	-	2	1037	c.846C>A	c.(844-846)gtC>gtA	p.V282V	GPRC5B_ENST00000535671.1_Silent_p.V282V|GPRC5B_ENST00000569479.1_Silent_p.V282V|GPRC5B_ENST00000537135.1_Silent_p.V308V|GPRC5B_ENST00000569847.1_Silent_p.V282V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	282					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.V282V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGATGACGAAGACCCAGCCGC	0.622																																					p.V282V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C846A	16						.						66.0	69.0	68.0					16																	19883322		2197	4300	6497	19790823	SO:0001819	synonymous_variant	51704	exon2			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.846C>A	16.37:g.19883322G>T			19790823	NM_016235	D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	CCDS10581.1																																																																																				0.622	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1		
GP2	2813	broad.mit.edu	37	16	20329677	20329677	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:20329677C>A	ENST00000381362.4	-	8	1168	c.1092G>T	c.(1090-1092)acG>acT	p.T364T	GP2_ENST00000341642.5_Silent_p.T214T|GP2_ENST00000302555.5_Silent_p.T361T|GP2_ENST00000381360.5_Silent_p.T217T|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	364	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.T361T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGTAAGGATTCGTGTAGTTCT	0.507																																					p.T214T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G642T	16						.						301.0	247.0	265.0					16																	20329677		2203	4300	6503	20237178	SO:0001819	synonymous_variant	2813	exon6			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1092G>T	16.37:g.20329677C>A			20237178	NM_001007242	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	CCDS42128.1																																																																																				0.507	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
GP2	2813	broad.mit.edu	37	16	20335551	20335551	+	Missense_Mutation	SNP	G	G	A	rs140222432		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:20335551G>A	ENST00000381362.4	-	3	198	c.122C>T	c.(121-123)tCg>tTg	p.S41L	GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.S41L|GP2_ENST00000381360.5_Intron|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	41					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.S41L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCCCATACGAACTGGCTTC	0.532																																					p.S41L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C122T	16						.	G	LEU/SER,,,LEU/SER	0,4406		0,0,2203	44.0	42.0	42.0		122,,,122	2.8	0.0	16	dbSNP_134	42	3,8597	3.0+/-9.4	0,3,4297	no	missense,intron,intron,missense	GP2	NM_001007240.1,NM_001007241.1,NM_001007242.1,NM_001502.2	145,,,145	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging,,,possibly-damaging	41/538,,,41/535	20335551	3,13003	2203	4300	6503	20243052	SO:0001583	missense	2813	exon3			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.122C>T	16.37:g.20335551G>A	ENSP00000370767:p.Ser41Leu		20243052	NM_001502	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	g	12.29	1.892197	0.33442	0.0	3.49E-4	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99382	-5.8;-5.8	4.78	2.83	0.33086	.	.	.	.	.	D	0.98027	0.9350	L	0.60455	1.87	0.09310	N	0.999995	D;D	0.63046	0.992;0.986	P;B	0.47626	0.552;0.349	D	0.95211	0.8325	9	0.72032	D	0.01	-8.6441	4.2191	0.10549	0.1891:0.0:0.6293:0.1816	.	41;41	P55259-3;P55259	.;GP2_HUMAN	L	41	ENSP00000304044:S41L;ENSP00000370767:S41L	ENSP00000304044:S41L	S	-	2	0	GP2	20243052	0.004000	0.15560	0.016000	0.15963	0.014000	0.08584	0.466000	0.22019	0.626000	0.30322	0.651000	0.88453	TCG		0.532	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
UMOD	7369	broad.mit.edu	37	16	20348713	20348713	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:20348713C>T	ENST00000570689.1	-	8	1786	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q	UMOD_ENST00000396138.4_Missense_Mutation_p.R596Q|UMOD_ENST00000396134.2_Missense_Mutation_p.R580Q|UMOD_ENST00000302509.4_Missense_Mutation_p.R547Q|UMOD_ENST00000424589.1_Missense_Mutation_p.R580Q|UMOD_ENST00000396142.2_Missense_Mutation_p.R547Q|UMOD_ENST00000570331.1_5'UTR			P07911	UROM_HUMAN	uromodulin	547	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.R547Q(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GACGGAAAATCGGCCCTGGGA	0.478																																					p.R547Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1640A	16						.						107.0	109.0	108.0					16																	20348713		2203	4300	6503	20256214	SO:0001583	missense	7369	exon8			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1640G>A	16.37:g.20348713C>T	ENSP00000460548:p.Arg547Gln		20256214	NM_003361	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356928	0.82243	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D;D	0.85171	-1.6;-1.95;-1.95;-1.95;-1.95	5.62	5.62	0.85841	Zona pellucida sperm-binding protein (3);	0.000000	0.42172	D	0.000741	D	0.87470	0.6185	L	0.56124	1.755	0.43693	D	0.996143	D;D	0.56968	0.978;0.975	P;P	0.52189	0.572;0.692	D	0.87402	0.2370	10	0.48119	T	0.1	-9.3483	17.1604	0.86802	0.0:1.0:0.0:0.0	.	580;547	E9PEA4;P07911	.;UROM_HUMAN	Q	547;580;580;547;525;547	ENSP00000379442:R547Q;ENSP00000379438:R580Q;ENSP00000416346:R580Q;ENSP00000306279:R547Q;ENSP00000379446:R547Q	ENSP00000306279:R547Q	R	-	2	0	UMOD	20256214	0.888000	0.30383	0.949000	0.38748	0.753000	0.42808	1.594000	0.36697	2.614000	0.88457	0.655000	0.94253	CGA		0.478	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		
ACSM2B	348158	broad.mit.edu	37	16	20566622	20566622	+	Missense_Mutation	SNP	C	C	T	rs200183083		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:20566622C>T	ENST00000329697.6	-	4	733	c.565G>A	c.(565-567)Gat>Aat	p.D189N	ACSM2B_ENST00000565322.1_Missense_Mutation_p.D110N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.D189N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D189N|ACSM2B_ENST00000414188.2_Missense_Mutation_p.D189N|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	189					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGCCACCCATCGCAGCTTTTC	0.448																																					p.D189N												.	.	0			c.G565A	16						.						256.0	241.0	246.0					16																	20566622		2201	4300	6501	20474123	SO:0001583	missense	348158	exon4			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.565G>A	16.37:g.20566622C>T	ENSP00000327453:p.Asp189Asn		20474123	NM_001105069	Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	7.865	0.726850	0.15439	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.49432	1.02;0.78	3.11	2.15	0.27550	AMP-dependent synthetase/ligase (1);	0.640351	0.13672	N	0.370788	T	0.37265	0.0997	L	0.41632	1.29	0.09310	N	0.999998	B;B	0.22346	0.068;0.068	B;B	0.20384	0.029;0.029	T	0.29488	-1.0010	10	0.49607	T	0.09	-2.4688	9.1222	0.36795	0.0:0.8843:0.0:0.1157	.	189;189	A8K051;Q68CK6	.;ACS2B_HUMAN	N	189	ENSP00000327453:D189N;ENSP00000390378:D189N	ENSP00000327453:D189N	D	-	1	0	ACSM2B	20474123	0.072000	0.21174	0.022000	0.16811	0.256000	0.26092	0.933000	0.28897	0.635000	0.30488	0.609000	0.83330	GAT		0.448	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
ACSM1	116285	broad.mit.edu	37	16	20682940	20682940	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:20682940A>G	ENST00000307493.4	-	4	732	c.665T>C	c.(664-666)gTc>gCc	p.V222A	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.V222A	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	222					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.V222A(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GAAGAAGATGACCATTGGGTC	0.493																																					p.V222A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T665C	16						.						133.0	111.0	119.0					16																	20682940		2201	4300	6501	20590441	SO:0001583	missense	116285	exon4			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.665T>C	16.37:g.20682940A>G	ENSP00000301956:p.Val222Ala		20590441	NM_052956	Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	A	1.305	-0.603843	0.03717	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.41065	1.01;1.01	4.95	-3.21	0.05140	AMP-dependent synthetase/ligase (1);	0.923930	0.09057	N	0.854891	T	0.18882	0.0453	N	0.10972	0.075	0.43439	D	0.995618	B	0.06786	0.001	B	0.08055	0.003	T	0.47005	-0.9150	10	0.02654	T	1	-6.1889	11.6345	0.51196	0.6909:0.0:0.3091:0.0	.	222	Q08AH1	ACSM1_HUMAN	A	222	ENSP00000301956:V222A;ENSP00000428047:V222A	ENSP00000301956:V222A	V	-	2	0	ACSM1	20590441	0.000000	0.05858	0.515000	0.27774	0.968000	0.65278	-0.909000	0.04058	-0.846000	0.04174	-0.322000	0.08575	GTC		0.493	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956	
THUMPD1	55623	broad.mit.edu	37	16	20749240	20749240	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:20749240A>G	ENST00000381337.2	-	3	789	c.445T>C	c.(445-447)Tac>Cac	p.Y149H	THUMPD1_ENST00000396083.2_Missense_Mutation_p.Y149H|THUMPD1_ENST00000431224.2_Missense_Mutation_p.Y235H	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	149	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.						poly(A) RNA binding (GO:0044822)	p.Y149H(1)		NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TTGGTTTTGTACATATCCTGG	0.328																																					p.Y149H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T445C	16						.						109.0	121.0	117.0					16																	20749240		2200	4300	6500	20656741	SO:0001583	missense	55623	exon3			BC000448	CCDS10588.1	16p13.11	2010-06-17			ENSG00000066654	ENSG00000066654			23807	protein-coding gene	gene with protein product							Standard	XM_005255422		Approved	FLJ20274	uc002dho.3	Q9NXG2	OTTHUMG00000131558	ENST00000381337.2:c.445T>C	16.37:g.20749240A>G	ENSP00000370741:p.Tyr149His		20656741	NM_017736	Q9BWC3	Missense_Mutation	SNP	ENST00000381337.2	37	CCDS10588.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670167	0.29693	.	.	ENSG00000066654	ENST00000381337;ENST00000431224;ENST00000396083	T;T;T	0.43688	0.97;0.94;0.97	5.55	5.55	0.83447	THUMP (1);	0.111468	0.64402	D	0.000015	T	0.16811	0.0404	N	0.03115	-0.41	0.42816	D	0.993972	B	0.11235	0.004	B	0.08055	0.003	T	0.18272	-1.0342	10	0.13108	T	0.6	.	5.9601	0.19295	0.7953:0.0:0.2047:0.0	.	149	Q9NXG2	THUM1_HUMAN	H	149;235;149	ENSP00000370741:Y149H;ENSP00000392282:Y235H;ENSP00000379392:Y149H	ENSP00000370741:Y149H	Y	-	1	0	THUMPD1	20656741	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.526000	0.53509	2.110000	0.64415	0.454000	0.30748	TAC		0.328	THUMPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254420.1	NM_017736	
LOC81691	81691	broad.mit.edu	37	16	20860798	20860798	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:20860798C>T	ENST00000261377.6	+	20	2530	c.2321C>T	c.(2320-2322)tCg>tTg	p.S774L	AC004381.6_ENST00000348433.6_Missense_Mutation_p.S743L|AC004381.6_ENST00000564274.1_Missense_Mutation_p.S774L|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2												p.S774L(1)									GGCCTGTGTTCGTGAGTCGGC	0.502																																					p.S774L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2321T	16						.						89.0	73.0	79.0					16																	20860798		2201	4300	6501	20768299	SO:0001583	missense	81691	exon20																														ENST00000261377.6:c.2321C>T	16.37:g.20860798C>T	ENSP00000261377:p.Ser774Leu		20768299	NM_001199053		Missense_Mutation	SNP	ENST00000261377.6	37	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525383	0.64747	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.33865	1.39;1.86	4.89	-7.71	0.01254	.	2.241310	0.02330	N	0.073843	T	0.16557	0.0398	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.34030	-0.9845	10	0.87932	D	0	.	9.088	0.36592	0.1099:0.1691:0.0:0.721	.	743;774	Q96IC2-2;Q96IC2	.;REXON_HUMAN	L	743;774	ENSP00000261378:S743L;ENSP00000261377:S774L	ENSP00000261377:S774L	S	+	2	0	AC004381.6	20768299	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.730000	0.04915	-1.647000	0.01511	-0.136000	0.14681	TCG		0.502	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2		
DNAH3	55567	broad.mit.edu	37	16	21051214	21051214	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:21051214C>A	ENST00000261383.3	-	33	4689	c.4690G>T	c.(4690-4692)Gaa>Taa	p.E1564*	DNAH3_ENST00000415178.1_Nonsense_Mutation_p.E1564*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1564	AAA 1. {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)|microtubule motor activity (GO:0003777)	p.E1564*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGGAGATTTCTCCAATGAGG	0.473																																					p.E1564X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G4690T	16						.						137.0	128.0	131.0					16																	21051214		2201	4300	6501	20958715	SO:0001587	stop_gained	55567	exon33			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4690G>T	16.37:g.21051214C>A	ENSP00000261383:p.Glu1564*		20958715	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	47	13.099761	0.99719	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.697	0.96030	0.0:1.0:0.0:0.0	.	.	.	.	X	1564	.	ENSP00000261383:E1564X	E	-	1	0	DNAH3	20958715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.683000	0.84093	2.722000	0.93159	0.650000	0.86243	GAA		0.473	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
DNAH3	55567	broad.mit.edu	37	16	21108812	21108812	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:21108812A>G	ENST00000261383.3	-	18	2528	c.2529T>C	c.(2527-2529)aaT>aaC	p.N843N	DNAH3_ENST00000415178.1_Silent_p.N843N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	843	Stem. {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)|microtubule motor activity (GO:0003777)	p.N843N(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCCTCCTTATTGATCAACT	0.483																																					p.N843N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2529C	16						.						117.0	96.0	103.0					16																	21108812		2201	4300	6501	21016313	SO:0001819	synonymous_variant	55567	exon18			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.2529T>C	16.37:g.21108812A>G			21016313	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
VWA3A	146177	broad.mit.edu	37	16	22132878	22132878	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:22132878C>A	ENST00000389398.5	+	14	1392	c.1296C>A	c.(1294-1296)ttC>ttA	p.F432L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	432						extracellular region (GO:0005576)		p.F432L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCAATGCATTCTCTCCTGTGG	0.448																																					p.F432L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1296A	16						.						179.0	179.0	179.0					16																	22132878		1868	4100	5968	22040379	SO:0001583	missense	146177	exon14			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1296C>A	16.37:g.22132878C>A	ENSP00000374049:p.Phe432Leu		22040379	NM_173615	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529041	0.44969	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.16073	2.37	5.62	2.56	0.30785	.	0.063063	0.64402	D	0.000003	T	0.28333	0.0700	M	0.81802	2.56	0.80722	D	1	B;D	0.57257	0.176;0.979	B;P	0.50049	0.059;0.629	T	0.03403	-1.1040	10	0.66056	D	0.02	.	8.2124	0.31492	0.0:0.6176:0.0:0.3824	.	432;56	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	L	432;55	ENSP00000374049:F432L	ENSP00000299840:F55L	F	+	3	2	VWA3A	22040379	0.985000	0.35326	0.997000	0.53966	0.930000	0.56654	0.074000	0.14662	0.316000	0.23135	-0.149000	0.13747	TTC		0.448	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
USP31	57478	broad.mit.edu	37	16	23096260	23096260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:23096260C>T	ENST00000219689.7	-	11	1750	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R584H(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTTTGCAGACGAACACTTTC	0.443																																					p.R584H												.	.	2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)	c.G1751A	16						.						275.0	266.0	269.0					16																	23096260		2197	4300	6497	23003761	SO:0001583	missense	57478	exon11			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1751G>A	16.37:g.23096260C>T	ENSP00000219689:p.Arg584His		23003761	NM_020718	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702865	0.88924	.	.	ENSG00000103404	ENST00000219689	T	0.09163	3.01	5.91	5.91	0.95273	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.270419	0.35646	N	0.003064	T	0.25606	0.0623	L	0.35854	1.095	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.00106	-1.2054	10	0.51188	T	0.08	-13.367	19.2867	0.94077	0.0:1.0:0.0:0.0	.	584	Q70CQ4	UBP31_HUMAN	H	584	ENSP00000219689:R584H	ENSP00000219689:R584H	R	-	2	0	USP31	23003761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.527000	0.67123	2.793000	0.96121	0.655000	0.94253	CGT		0.443	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718	
GGA2	23062	broad.mit.edu	37	16	23504707	23504707	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:23504707C>T	ENST00000309859.4	-	4	407	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	GGA2_ENST00000567468.1_Missense_Mutation_p.E109K	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	109	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.E109K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TTGATCAGTTCGTTCAGGAAA	0.557																																					p.E109K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G325A	16						.						182.0	133.0	150.0					16																	23504707		2197	4300	6497	23412208	SO:0001583	missense	23062	exon4			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.325G>A	16.37:g.23504707C>T	ENSP00000311962:p.Glu109Lys		23412208	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199281	0.94997	.	.	ENSG00000103365	ENST00000309859	T	0.25579	1.79	5.58	5.58	0.84498	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69822	-0.5041	10	0.87932	D	0	-35.2196	17.0743	0.86582	0.0:1.0:0.0:0.0	.	109	Q9UJY4	GGA2_HUMAN	K	109	ENSP00000311962:E109K	ENSP00000311962:E109K	E	-	1	0	GGA2	23412208	1.000000	0.71417	0.998000	0.56505	0.552000	0.35366	7.386000	0.79775	2.638000	0.89438	0.448000	0.29417	GAA		0.557	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
PLK1	5347	broad.mit.edu	37	16	23692355	23692355	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:23692355A>G	ENST00000300093.4	+	3	809	c.698A>G	c.(697-699)gAt>gGt	p.D233G	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.D233G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTCGAGGTGGATGTGTGGTCC	0.517																																					p.D233G	Colon(12;240 564 27038 33155)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A698G	16						.						237.0	210.0	219.0					16																	23692355		2197	4300	6497	23599856	SO:0001583	missense	5347	exon3				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.698A>G	16.37:g.23692355A>G	ENSP00000300093:p.Asp233Gly		23599856	NM_005030	Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.812966	0.90707	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.75589	-0.95	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91791	0.7403	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94581	0.7779	10	0.87932	D	0	-17.7663	13.1379	0.59419	1.0:0.0:0.0:0.0	.	233	P53350	PLK1_HUMAN	G	233;136	ENSP00000300093:D233G	ENSP00000300093:D233G	D	+	2	0	PLK1	23599856	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	8.905000	0.92613	1.985000	0.57927	0.459000	0.35465	GAT		0.517	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030	
TNRC6A	27327	broad.mit.edu	37	16	24801012	24801012	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:24801012C>A	ENST00000395799.3	+	6	1178	c.1049C>A	c.(1048-1050)tCt>tAt	p.S350Y	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S350Y	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	350	Interaction with argonaute family proteins.|Ser-rich.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S350Y(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACTGTAAGTTCTTCATCAAAT	0.443																																					p.S350Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1049A	16						.						83.0	86.0	85.0					16																	24801012		2197	4300	6497	24708513	SO:0001583	missense	27327	exon6			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1049C>A	16.37:g.24801012C>A	ENSP00000379144:p.Ser350Tyr		24708513	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461355	0.63513	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.15487	2.42;2.43	5.84	5.84	0.93424	.	0.305715	0.37623	N	0.002010	T	0.34424	0.0897	L	0.58101	1.795	0.80722	D	1	D;P;D	0.62365	0.986;0.589;0.991	P;B;P	0.55161	0.742;0.444;0.77	T	0.01015	-1.1480	10	0.59425	D	0.04	-0.8162	19.1275	0.93391	0.0:1.0:0.0:0.0	.	97;350;350	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	Y	350	ENSP00000326900:S350Y;ENSP00000379144:S350Y	ENSP00000326900:S350Y	S	+	2	0	TNRC6A	24708513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.413000	0.59795	2.759000	0.94783	0.563000	0.77884	TCT		0.443	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
TNRC6A	27327	broad.mit.edu	37	16	24802647	24802647	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:24802647C>T	ENST00000395799.3	+	6	2813	c.2684C>T	c.(2683-2685)tCt>tTt	p.S895F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S895F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	895	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S895F(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AAAACTAGTTCTTTCACTTGG	0.453																																					p.S895F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2684T	16						.						79.0	74.0	76.0					16																	24802647		2197	4300	6497	24710148	SO:0001583	missense	27327	exon6			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2684C>T	16.37:g.24802647C>T	ENSP00000379144:p.Ser895Phe		24710148	NM_014494	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952111	0.53293	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13089	2.62;2.62	5.95	5.95	0.96441	.	0.190415	0.47852	D	0.000215	T	0.32882	0.0844	L	0.56769	1.78	0.80722	D	1	D;P;D	0.71674	0.987;0.926;0.998	P;P;D	0.63488	0.863;0.466;0.915	T	0.00283	-1.1849	10	0.56958	D	0.05	-8.789	16.6114	0.84884	0.0:0.8701:0.1299:0.0	.	642;895;895	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	F	895	ENSP00000326900:S895F;ENSP00000379144:S895F	ENSP00000326900:S895F	S	+	2	0	TNRC6A	24710148	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.701000	0.54793	2.825000	0.97269	0.655000	0.94253	TCT		0.453	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847	
LCMT1	51451	broad.mit.edu	37	16	25176022	25176022	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:25176022T>C	ENST00000399069.3	+	7	828	c.673T>C	c.(673-675)Ttc>Ctc	p.F225L	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.F170L	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	225					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.F225L(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGAGCCATGTTCATAAACTA	0.507																																					p.F225L	Colon(200;565 2072 24396 47922 50898)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T673C	16						.						109.0	102.0	104.0					16																	25176022		1933	4153	6086	25083523	SO:0001583	missense	51451	exon7			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.673T>C	16.37:g.25176022T>C	ENSP00000382021:p.Phe225Leu		25083523	NM_016309	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128190	0.56721	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.21734	1.99;1.99	5.83	4.74	0.60224	.	0.098573	0.64402	N	0.000001	T	0.21718	0.0523	L	0.52759	1.655	0.80722	D	1	B;B	0.33549	0.245;0.417	B;B	0.36808	0.233;0.123	T	0.02326	-1.1176	10	0.44086	T	0.13	-17.9879	9.9963	0.41902	0.0:0.0797:0.0:0.9203	.	170;225	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	L	225;170;242	ENSP00000382021:F225L;ENSP00000370353:F170L	ENSP00000370349:F242L	F	+	1	0	LCMT1	25083523	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.597000	0.54031	1.034000	0.39945	0.460000	0.39030	TTC		0.507	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309	
ZKSCAN2	342357	broad.mit.edu	37	16	25251868	25251868	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:25251868G>A	ENST00000328086.7	-	7	2976	c.2173C>T	c.(2173-2175)Ccg>Tcg	p.P725S	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	725					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.P725S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGAGACATCGGCTTTCCCTGT	0.463																																					p.P725S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2173T	16						.						108.0	97.0	101.0					16																	25251868		2197	4300	6497	25159369	SO:0001583	missense	342357	exon7			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2173C>T	16.37:g.25251868G>A	ENSP00000331626:p.Pro725Ser		25159369	NM_001012981	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.681961	0.00745	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.06849	3.25	5.41	3.33	0.38152	.	0.700956	0.12935	N	0.427072	T	0.02571	0.0078	N	0.01284	-0.91	0.09310	N	1	B;B	0.21520	0.023;0.057	B;B	0.14023	0.01;0.01	T	0.36383	-0.9750	10	0.39692	T	0.17	0.4352	3.7526	0.08572	0.1999:0.0:0.604:0.1961	.	521;725	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	S	725	ENSP00000331626:P725S	ENSP00000331626:P725S	P	-	1	0	ZKSCAN2	25159369	0.000000	0.05858	0.162000	0.22713	0.005000	0.04900	0.244000	0.18124	1.521000	0.48983	0.655000	0.94253	CCG		0.463	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
ZKSCAN2	342357	broad.mit.edu	37	16	25255383	25255383	+	Silent	SNP	G	G	A	rs539527999		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:25255383G>A	ENST00000328086.7	-	6	2507	c.1704C>T	c.(1702-1704)caC>caT	p.H568H		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	568					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H568H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ACTCTAGCACGTGGCCATTTT	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19692	0.0		0.0	False		,,,				2504	0.0				p.H568H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1704T	16						.						97.0	93.0	95.0					16																	25255383		2197	4300	6497	25162884	SO:0001819	synonymous_variant	342357	exon6			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1704C>T	16.37:g.25255383G>A			25162884	NM_001012981	A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	CCDS32410.1																																																																																				0.547	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
KIAA0556	23247	broad.mit.edu	37	16	27732945	27732945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:27732945C>T	ENST00000261588.4	+	14	1691	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	CTD-2049O4.1_ENST00000563052.1_RNA|Y_RNA_ENST00000364501.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	558						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R558*(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTTTGTTATTCGAAACACAAG	0.532																																					p.R558X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1672T	16						.						67.0	66.0	67.0					16																	27732945		2197	4300	6497	27640446	SO:0001587	stop_gained	23247	exon14			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1672C>T	16.37:g.27732945C>T	ENSP00000261588:p.Arg558*		27640446	NM_015202	A7E2C2	Nonsense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710593	0.89112	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	.	.	.	5.34	5.34	0.76211	.	0.057344	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8768	14.5543	0.68089	0.0:1.0:0.0:0.0	.	.	.	.	X	558;465	.	ENSP00000261588:R558X	R	+	1	2	KIAA0556	27640446	1.000000	0.71417	0.991000	0.47740	0.015000	0.08874	4.109000	0.57824	2.506000	0.84524	0.655000	0.94253	CGA		0.532	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
KIAA0556	23247	broad.mit.edu	37	16	27761525	27761525	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:27761525C>T	ENST00000261588.4	+	16	3263	c.3244C>T	c.(3244-3246)Cgg>Tgg	p.R1082W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1082						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1082W(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CAATAAATCTCGGATACATTC	0.542																																					p.R1082W												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C3244T	16						.						96.0	92.0	94.0					16																	27761525		2197	4300	6497	27669026	SO:0001583	missense	23247	exon16			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3244C>T	16.37:g.27761525C>T	ENSP00000261588:p.Arg1082Trp		27669026	NM_015202	A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737340	0.69304	.	.	ENSG00000047578	ENST00000261588	T	0.13420	2.59	5.32	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	M	0.89353	3.025	0.51233	D	0.999911	D	0.89917	1.0	D	0.97110	1.0	T	0.50617	-0.8807	10	0.87932	D	0	-11.4923	13.1792	0.59645	0.4185:0.5815:0.0:0.0	.	1082	O60303	K0556_HUMAN	W	1082	ENSP00000261588:R1082W	ENSP00000261588:R1082W	R	+	1	2	KIAA0556	27669026	0.990000	0.36364	0.369000	0.25952	0.961000	0.63080	2.889000	0.48601	0.678000	0.31325	0.655000	0.94253	CGG		0.542	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
ATXN2L	11273	broad.mit.edu	37	16	28836700	28836700	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:28836700G>T	ENST00000336783.4	+	2	480	c.313G>T	c.(313-315)Gga>Tga	p.G105*	ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.G105*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.G105*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.G105*|ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.G105*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.G105*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.G105*	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	105	Interaction with MPL.				regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.G105*(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACAGAGCACAGGAAAGGGACC	0.398																																					p.G105X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G313T	16						.						78.0	86.0	83.0					16																	28836700		2197	4300	6497	28744201	SO:0001587	stop_gained	11273	exon2				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.313G>T	16.37:g.28836700G>T	ENSP00000338718:p.Gly105*		28744201	NM_148415	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	ENST00000336783.4	37	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	38	7.118135	0.98074	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	.	.	.	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-5.7837	15.4674	0.75412	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000315650:G105X	G	+	1	0	ATXN2L	28744201	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.456000	0.66665	2.386000	0.81285	0.456000	0.33151	GGA		0.398	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	
SEZ6L2	26470	broad.mit.edu	37	16	29891313	29891313	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:29891313C>A	ENST00000308713.5	-	9	1972	c.1445G>T	c.(1444-1446)cGc>cTc	p.R482L	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R412L|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R368L|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R438L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	482	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCCCTGGGCGATACTCAGG	0.587																																					p.R368L												.	.	0			c.G1103T	16						.						88.0	76.0	80.0					16																	29891313		2197	4300	6497	29798814	SO:0001583	missense	26470	exon7			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1445G>T	16.37:g.29891313C>A	ENSP00000312550:p.Arg482Leu		29798814	NM_001114100	B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700432	0.48307	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.26	4.29	0.51040	Complement control module (2);Sushi/SCR/CCP (3);	0.356799	0.24608	N	0.037075	T	0.41858	0.1177	N	0.14661	0.345	0.30328	N	0.78697	B;P;B;B;B;P	0.36378	0.451;0.55;0.101;0.255;0.3;0.495	B;B;B;B;B;B	0.39185	0.293;0.202;0.069;0.077;0.127;0.128	T	0.38972	-0.9636	10	0.27082	T	0.32	.	5.8888	0.18896	0.0:0.6747:0.1581:0.1672	.	438;482;368;412;482;412	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	L	412;482;368;438	ENSP00000310206:R412L;ENSP00000312550:R482L;ENSP00000319215:R368L;ENSP00000439412:R438L	ENSP00000312550:R482L	R	-	2	0	SEZ6L2	29798814	0.450000	0.25697	1.000000	0.80357	0.819000	0.46315	0.245000	0.18142	1.420000	0.47138	0.655000	0.94253	CGC		0.587	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
SEPHS2	22928	broad.mit.edu	37	16	30455809	30455809	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:30455809C>T	ENST00000478753.2	-	1	1693	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A357T|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A414T			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	414					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)	p.A414T(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ATGATCCGGGCCGTTCGGTTT	0.537																																					p.A414T	Esophageal Squamous(81;1142 1261 11202 24614 35697)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1240A	16						.						70.0	73.0	72.0					16																	30455809		1992	4153	6145	30363310	SO:0001583	missense	22928	exon1			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1240G>A	16.37:g.30455809C>T	ENSP00000418669:p.Ala414Thr		30363310	NM_012248	Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	C	18.53	3.643372	0.67244	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.15952	2.38;2.38;2.38	5.28	5.28	0.74379	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	M	0.85373	2.75	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.968	T	0.51810	-0.8658	10	0.66056	D	0.02	-20.2031	16.7892	0.85583	0.0:1.0:0.0:0.0	.	414;357	Q99611;F5H8F9	SPS2_HUMAN;.	T	414;357;365;414	ENSP00000418669:A414T;ENSP00000443601:A357T;ENSP00000426234:A414T	ENSP00000390233:A365T	A	-	1	0	SEPHS2	30363310	1.000000	0.71417	0.919000	0.36401	0.052000	0.14988	7.745000	0.85046	2.652000	0.90054	0.655000	0.94253	GCC		0.537	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248	
SEPHS2	22928	broad.mit.edu	37	16	30456341	30456341	+	Missense_Mutation	SNP	G	G	T	rs372056355		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:30456341G>T	ENST00000478753.2	-	1	1161	c.708C>A	c.(706-708)ttC>ttA	p.F236L	SEPHS2_ENST00000542752.1_Missense_Mutation_p.F179L|SEPHS2_ENST00000500504.2_Missense_Mutation_p.F236L			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	236					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)	p.F236L(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CCGGCATTATGAACTCATTTG	0.542																																					p.F236L	Esophageal Squamous(81;1142 1261 11202 24614 35697)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C708A	16						.						97.0	97.0	97.0					16																	30456341		2111	4237	6348	30363842	SO:0001583	missense	22928	exon1			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.708C>A	16.37:g.30456341G>T	ENSP00000418669:p.Phe236Leu		30363842	NM_012248	Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	G	12.28	1.890177	0.33348	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.40476	1.03;1.08;1.05	5.74	2.75	0.32379	AIR synthase-related protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	N	0.16201	0.385	0.80722	D	1	B;B	0.20988	0.005;0.05	B;B	0.25291	0.034;0.059	T	0.04140	-1.0974	10	0.23891	T	0.37	-21.852	9.6344	0.39798	0.2286:0.0:0.7714:0.0	.	236;179	Q99611;F5H8F9	SPS2_HUMAN;.	L	236;179;187;236	ENSP00000418669:F236L;ENSP00000443601:F179L;ENSP00000426234:F236L	ENSP00000390233:F187L	F	-	3	2	SEPHS2	30363842	1.000000	0.71417	0.992000	0.48379	0.500000	0.33767	2.128000	0.42045	0.464000	0.27142	-0.150000	0.13652	TTC		0.542	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248	
SRCAP	10847	broad.mit.edu	37	16	30724642	30724642	+	Silent	SNP	G	G	A	rs138153762		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:30724642G>A	ENST00000262518.4	+	15	2629	c.2244G>A	c.(2242-2244)gcG>gcA	p.A748A	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Silent_p.A748A|SRCAP_ENST00000395059.2_Silent_p.A748A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	748	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.A748A(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGATGAGGCGCAGAACATCA	0.522																																					p.A748A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2244A	16						.	G		1,4393	2.1+/-5.4	0,1,2196	124.0	110.0	115.0		2244	-1.2	1.0	16	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous	SRCAP	NM_006662.2		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		748/3231	30724642	1,12993	2197	4300	6497	30632143	SO:0001819	synonymous_variant	10847	exon15			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2244G>A	16.37:g.30724642G>A			30632143	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
HSD3B7	80270	broad.mit.edu	37	16	30997933	30997933	+	Missense_Mutation	SNP	G	G	A	rs104894518		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:30997933G>A	ENST00000297679.5	+	5	532	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_Missense_Mutation_p.E147K|HSD3B7_ENST00000262520.6_Missense_Mutation_p.E147K	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	147			E -> K (in CBAS1; loss of activity). {ECO:0000269|PubMed:12679481}.		bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)	p.E147K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAGGGGCAACGAAGACACCCC	0.602																																					p.E147K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	16	GRCh37	CM031220	HSD3B7	M	rs104894518	.						92.0	91.0	91.0					16																	30997933		2197	4300	6497	30905434	SO:0001583	missense	80270	exon5			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.439G>A	16.37:g.30997933G>A	ENSP00000297679:p.Glu147Lys		30905434	NM_025193	Q96M28|Q9BSN9	Missense_Mutation	SNP	ENST00000297679.5	37	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	31	5.060878	0.93846	.	.	ENSG00000099377	ENST00000262520;ENST00000353250;ENST00000297679	D;D;D	0.93604	-3.25;-3.25;-3.25	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	H	0.97077	3.935	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99087	1.0839	9	0.87932	D	0	-29.2047	17.2199	0.86954	0.0:0.0:1.0:0.0	.	147;147	Q96M28;Q9H2F3	.;3BHS7_HUMAN	K	147	ENSP00000262520:E147K;ENSP00000370662:E147K;ENSP00000297679:E147K	ENSP00000262520:E147K	E	+	1	0	HSD3B7	30905434	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	7.752000	0.85141	2.667000	0.90743	0.561000	0.74099	GAA		0.602	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2		
ZNF267	10308	broad.mit.edu	37	16	31927357	31927357	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:31927357G>A	ENST00000300870.10	+	4	1996	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	596					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R596Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATCGGCGAACTCATACT	0.393																																					p.R596Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1787A	16						.						70.0	74.0	73.0					16																	31927357		2197	4300	6497	31834858	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1787G>A	16.37:g.31927357G>A	ENSP00000300870:p.Arg596Gln		31834858	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	10.26	1.301044	0.23650	.	.	ENSG00000185947	ENST00000300870	T	0.02369	4.32	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02807	0.0084	M	0.69358	2.11	0.18873	N	0.999982	P	0.35507	0.506	B	0.12156	0.007	T	0.41233	-0.9520	9	0.56958	D	0.05	.	2.8196	0.05467	0.3837:0.0:0.6163:0.0	.	596	Q14586	ZN267_HUMAN	Q	596	ENSP00000300870:R596Q	ENSP00000300870:R596Q	R	+	2	0	ZNF267	31834858	0.000000	0.05858	0.266000	0.24541	0.252000	0.25951	0.061000	0.14366	0.488000	0.27723	0.491000	0.48974	CGA		0.393	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
OR1F1	4992	broad.mit.edu	37	16	3254784	3254784	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:3254784G>A	ENST00000304646.2	+	1	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	180					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D180N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTTCTTCTGCGATGTGACTCC	0.502																																					p.D180N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	16						.						131.0	115.0	121.0					16																	3254784		2197	4300	6497	3194785	SO:0001583	missense	4992	exon1			Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.538G>A	16.37:g.3254784G>A	ENSP00000305424:p.Asp180Asn		3194785	NM_012360	O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061234	0.55432	.	.	ENSG00000168124	ENST00000304646	T	0.00188	8.59	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.209263	0.33272	N	0.005084	T	0.00815	0.0027	M	0.93016	3.37	0.31533	N	0.660988	D	0.89917	1.0	D	0.78314	0.991	T	0.11867	-1.0570	10	0.87932	D	0	.	16.114	0.81289	0.0:0.0:1.0:0.0	.	180	O43749	OR1F1_HUMAN	N	180	ENSP00000305424:D180N	ENSP00000305424:D180N	D	+	1	0	OR1F1	3194785	1.000000	0.71417	0.989000	0.46669	0.149000	0.21700	4.230000	0.58632	2.384000	0.81235	0.393000	0.25936	GAT		0.502	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1		
ZSCAN32	54925	broad.mit.edu	37	16	3432997	3432997	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:3432997G>A	ENST00000396852.4	-	7	2256	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.A438V|NAA60_ENST00000576906.1_Intron|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.A361V|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.A650V	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	650					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A438V(1)|p.G30D(1)									TTTTCGGTGGGCACTGAAGTG	0.522																																					p.A438V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1313T	16						.						120.0	103.0	109.0					16																	3432997		2197	4300	6497	3372998	SO:0001583	missense	54925	exon6			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.1949C>T	16.37:g.3432997G>A	ENSP00000380061:p.Ala650Val		3372998	NM_017810	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	G	14.20	2.464097	0.43736	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	3.5	2.51	0.30379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	N	0.04245	-0.25	0.09310	N	1	D;P	0.58620	0.983;0.464	P;B	0.51918	0.684;0.186	T	0.23762	-1.0179	9	0.30854	T	0.27	.	9.7041	0.40205	0.0:0.4142:0.5858:0.0	.	438;650	Q9NX65;Q6WMU8	ZN434_HUMAN;.	V	438;650;650;361	ENSP00000302502:A438V;ENSP00000380061:A650V;ENSP00000380057:A650V;ENSP00000391787:A361V	ENSP00000302502:A438V	A	-	2	0	ZNF434	3372998	0.000000	0.05858	0.349000	0.25694	0.975000	0.68041	-5.645000	0.00107	0.447000	0.26695	0.655000	0.94253	GCC		0.522	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810	
ZSCAN32	54925	broad.mit.edu	37	16	3434774	3434774	+	Missense_Mutation	SNP	G	G	A	rs200152894		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:3434774G>A	ENST00000396852.4	-	6	1226	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R95C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R307C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R18C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R18C|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R95C|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R307C	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	307					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R95C(2)									AACTTGGTGCGACACTGTTCT	0.512																																					p.R95C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C283T	16						.						164.0	170.0	168.0					16																	3434774		2197	4300	6497	3374775	SO:0001583	missense	54925	exon5			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.919C>T	16.37:g.3434774G>A	ENSP00000380061:p.Arg307Cys		3374775	NM_017810	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37		.	.	.	.	.	.	.	.	.	.	G	17.88	3.498206	0.64186	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	3.24	-1.39	0.08997	.	0.920459	0.08730	N	0.902189	T	0.71896	0.3394	M	0.93898	3.47	0.09310	N	1	D;B;B	0.89917	1.0;0.018;0.004	D;B;B	0.83275	0.996;0.006;0.006	T	0.58787	-0.7575	10	0.72032	D	0.01	.	6.9136	0.24347	0.5044:0.0:0.4956:0.0	.	95;95;307	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	C	95;307;307;18;95	ENSP00000302502:R95C;ENSP00000380061:R307C;ENSP00000380057:R307C;ENSP00000391787:R18C;ENSP00000407312:R95C	ENSP00000302502:R95C	R	-	1	0	ZNF434	3374775	0.000000	0.05858	0.001000	0.08648	0.626000	0.37791	-0.135000	0.10420	-0.223000	0.09943	0.655000	0.94253	CGC		0.512	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810	
ZNF174	7727	broad.mit.edu	37	16	3458869	3458869	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:3458869C>T	ENST00000268655.4	+	3	1759	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	ZNF174_ENST00000571936.1_Missense_Mutation_p.R392C	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	392					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R392C(1)		endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GAAAAGCTTTCGCCAGAGCTC	0.527																																					p.R392C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1174T	16						.						70.0	73.0	72.0					16																	3458869		2197	4300	6497	3398870	SO:0001583	missense	7727	exon3			U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.1174C>T	16.37:g.3458869C>T	ENSP00000268655:p.Arg392Cys		3398870	NM_003450	Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634601	0.29068	.	.	ENSG00000103343	ENST00000268655	T	0.18502	2.21	4.72	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000163	T	0.31358	0.0794	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.02617	-1.1133	10	0.44086	T	0.13	.	6.7106	0.23274	0.0:0.7263:0.1811:0.0926	.	392	Q15697	ZN174_HUMAN	C	392	ENSP00000268655:R392C	ENSP00000268655:R392C	R	+	1	0	ZNF174	3398870	0.001000	0.12720	1.000000	0.80357	0.431000	0.31685	1.434000	0.34958	1.578000	0.49821	-0.176000	0.13171	CGC		0.527	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450	
SRL	6345	broad.mit.edu	37	16	4242186	4242186	+	Missense_Mutation	SNP	C	C	T	rs200610272		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:4242186C>T	ENST00000399609.3	-	6	1402	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	SRL_ENST00000537996.1_Missense_Mutation_p.E422K	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	923	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E464K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTTGGTGTTTCGCTACACCCT	0.557																																					p.E464K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1390A	16						.	C	LYS/GLU	1,3861		0,1,1930	125.0	130.0	128.0		1390	5.8	0.9	16		128	1,8261		0,1,4130	yes	missense	SRL	NM_001098814.1	56	0,2,6060	TT,TC,CC		0.0121,0.0259,0.0165	probably-damaging	464/474	4242186	2,12122	1931	4131	6062	4182187	SO:0001583	missense	6345	exon6			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.1390G>A	16.37:g.4242186C>T	ENSP00000382518:p.Glu464Lys		4182187	NM_001098814		Missense_Mutation	SNP	ENST00000399609.3	37	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332399	0.81801	2.59E-4	1.21E-4	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	T;T	0.38560	1.13;1.17	5.76	5.76	0.90799	.	0.000000	0.85682	U	0.000000	T	0.56934	0.2019	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.56739	-0.7929	10	0.59425	D	0.04	-15.7764	19.962	0.97255	0.0:1.0:0.0:0.0	.	464	Q86TD4-2	.	K	464;922;422	ENSP00000382518:E464K;ENSP00000440350:E422K	ENSP00000333285:E922K	E	-	1	0	SRL	4182187	1.000000	0.71417	0.940000	0.37924	0.368000	0.29767	7.818000	0.86416	2.705000	0.92388	0.655000	0.94253	GAA		0.557	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152	
ZNF267	10308	broad.mit.edu	37	16	31927437	31927437	+	Missense_Mutation	SNP	C	C	T	rs145439451		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:31927437C>T	ENST00000300870.10	+	4	2076	c.1867C>T	c.(1867-1869)Cgg>Tgg	p.R623W		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	623					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R623W(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TATTCAGCATCGGAGAATTCA	0.423																																					p.R623W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1867T	16						.	C	TRP/ARG	1,4393		0,1,2196	72.0	75.0	74.0		1867	0.5	0.2	16	dbSNP_134	74	0,8600		0,0,4300	no	missense	ZNF267	NM_003414.4	101	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	623/744	31927437	1,12993	2197	4300	6497	31834938	SO:0001583	missense	10308	exon4			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1867C>T	16.37:g.31927437C>T	ENSP00000300870:p.Arg623Trp		31834938	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	13.38	2.219099	0.39201	2.28E-4	0.0	ENSG00000185947	ENST00000300870	T	0.18810	2.19	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13457	0.0326	L	0.52573	1.65	0.80722	D	1	P	0.39311	0.667	B	0.28849	0.095	T	0.11817	-1.0572	9	0.72032	D	0.01	.	4.1882	0.10409	1.0E-4:0.5524:0.4475:0.0	.	623	Q14586	ZN267_HUMAN	W	623	ENSP00000300870:R623W	ENSP00000300870:R623W	R	+	1	2	ZNF267	31834938	0.000000	0.05858	0.246000	0.24233	0.228000	0.25075	-0.112000	0.10791	0.488000	0.27723	0.491000	0.48974	CGG		0.423	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
MYLK3	91807	broad.mit.edu	37	16	46743455	46743455	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:46743455C>A	ENST00000394809.4	-	12	2511	c.2396G>T	c.(2395-2397)tGg>tTg	p.W799L	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.W458L	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	799					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.W878L(1)|p.W799L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAATACCTTCCATTTTCTTTG	0.358																																					p.W799L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2396T	16						.						168.0	170.0	170.0					16																	46743455		2203	4300	6503	45300956	SO:0001583	missense	91807	exon12			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2396G>T	16.37:g.46743455C>A	ENSP00000378288:p.Trp799Leu		45300956	NM_182493	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892097	0.91889	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.68765	-0.35;-0.2	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.000000	0.33477	N	0.004876	T	0.81927	0.4926	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.81274	-0.1007	10	0.62326	D	0.03	.	20.5596	0.99324	0.0:1.0:0.0:0.0	.	799	Q32MK0	MYLK3_HUMAN	L	799;458	ENSP00000378288:W799L;ENSP00000439297:W458L	ENSP00000378288:W799L	W	-	2	0	MYLK3	45300956	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.161000	0.64935	2.868000	0.98415	0.555000	0.69702	TGG		0.358	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493	
PHKB	5257	broad.mit.edu	37	16	47536904	47536904	+	Missense_Mutation	SNP	G	G	A	rs368975705		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:47536904G>A	ENST00000323584.5	+	4	332	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	PHKB_ENST00000299167.8_Missense_Mutation_p.R103Q|RNA5SP425_ENST00000410336.1_RNA|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Missense_Mutation_p.R96Q|PHKB_ENST00000455779.1_Missense_Mutation_p.R96Q	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	103					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.R103Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TCACCCAGGCGAATTGATGAT	0.408																																					p.R96Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G287A	16						.	G	GLN/ARG,GLN/ARG	0,4402		0,0,2201	74.0	68.0	70.0		308,287	5.5	1.0	16		70	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PHKB	NM_000293.2,NM_001031835.2	43,43	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	103/1094,96/1087	47536904	1,13001	2201	4300	6501	46094405	SO:0001583	missense	5257	exon5				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.308G>A	16.37:g.47536904G>A	ENSP00000313504:p.Arg103Gln		46094405	NM_001031835	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	36	5.818361	0.96982	0.0	1.16E-4	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.92348	-3.02;-3.02	5.52	5.52	0.82312	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96169	0.8751	M	0.82630	2.6	0.80722	D	1	D;D;D	0.64830	0.994;0.991;0.957	P;D;P	0.65140	0.769;0.932;0.546	D	0.96096	0.9065	10	0.59425	D	0.04	-15.6008	19.4316	0.94772	0.0:0.0:1.0:0.0	.	96;103;96	B4DQ16;Q93100;Q93100-4	.;KPBB_HUMAN;.	Q	96;96;103	ENSP00000414345:R96Q;ENSP00000313504:R103Q	ENSP00000299167:R96Q	R	+	2	0	PHKB	46094405	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.938000	0.87678	2.606000	0.88127	0.655000	0.94253	CGA		0.408	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1		
ABCC12	94160	broad.mit.edu	37	16	48172228	48172228	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:48172228T>G	ENST00000311303.3	-	6	1235	c.890A>C	c.(889-891)aAg>aCg	p.K297T	ABCC12_ENST00000448542.1_Missense_Mutation_p.K297T|ABCC12_ENST00000416054.1_Missense_Mutation_p.K297T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	297	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.K297T(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTGAACTCGCTTGTCTGTCAC	0.423																																					p.K297T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A890C	16						.						112.0	101.0	104.0					16																	48172228		2201	4300	6501	46729729	SO:0001583	missense	94160	exon6			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.890A>C	16.37:g.48172228T>G	ENSP00000311030:p.Lys297Thr		46729729	NM_033226	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156492	0.57259	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.91068	-2.78;-2.78;-2.78	5.62	4.53	0.55603	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.214024	0.48286	D	0.000188	D	0.87744	0.6254	L	0.45581	1.43	0.45662	D	0.998586	P;B	0.40970	0.734;0.11	P;B	0.44673	0.457;0.139	D	0.86683	0.1918	10	0.49607	T	0.09	.	7.5089	0.27562	0.0:0.1608:0.0:0.8392	.	297;297	Q96J65-2;Q96J65	.;MRP9_HUMAN	T	297;297;239;297	ENSP00000311030:K297T;ENSP00000401855:K297T;ENSP00000413046:K297T	ENSP00000311030:K297T	K	-	2	0	ABCC12	46729729	0.875000	0.30112	1.000000	0.80357	0.872000	0.50106	0.748000	0.26305	2.122000	0.65172	0.533000	0.62120	AAG		0.423	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	
LONP2	83752	broad.mit.edu	37	16	48329998	48329998	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:48329998C>A	ENST00000285737.4	+	9	1549	c.1456C>A	c.(1456-1458)Ctt>Att	p.L486I	LONP2_ENST00000535754.1_Missense_Mutation_p.L442I	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal									p.L486I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCAAGTTCTTTTTATAGC	0.393																																					p.L486I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1456A	16						.						170.0	166.0	167.0					16																	48329998		2200	4300	6500	46887499	SO:0001583	missense	83752	exon9			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1456C>A	16.37:g.48329998C>A	ENSP00000285737:p.Leu486Ile		46887499	NM_031490		Missense_Mutation	SNP	ENST00000285737.4	37	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093521	0.56075	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	D;D;D	0.92752	-3.1;-3.1;-3.1	5.78	5.78	0.91487	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.060585	0.64402	D	0.000002	D	0.90521	0.7030	L	0.45698	1.435	0.80722	D	1	B;B	0.32604	0.322;0.377	B;B	0.32980	0.156;0.148	D	0.89221	0.3571	10	0.62326	D	0.03	-18.0295	20.0114	0.97452	0.0:1.0:0.0:0.0	.	442;486	B7ZKL7;Q86WA8	.;LONP2_HUMAN	I	486;215;442;442	ENSP00000285737:L486I;ENSP00000445426:L442I;ENSP00000415983:L442I	ENSP00000285737:L486I	L	+	1	0	LONP2	46887499	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.679000	0.84048	2.732000	0.93576	0.591000	0.81541	CTT		0.393	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	
C16orf78	123970	broad.mit.edu	37	16	49430567	49430567	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:49430567C>T	ENST00000299191.3	+	4	745	c.628C>T	c.(628-630)Cca>Tca	p.P210S		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	210						nucleus (GO:0005634)		p.P210S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GATGTTGAAGCCAGAGGAGGT	0.557																																					p.P210S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C628T	16						.						41.0	38.0	39.0					16																	49430567		2199	4300	6499	47988068	SO:0001583	missense	123970	exon4			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.628C>T	16.37:g.49430567C>T	ENSP00000299191:p.Pro210Ser		47988068	NM_144602		Missense_Mutation	SNP	ENST00000299191.3	37	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588180	0.66105	.	.	ENSG00000166152	ENST00000299191	T	0.63417	-0.04	5.29	5.29	0.74685	.	0.140180	0.33553	N	0.004790	T	0.77350	0.4117	M	0.69823	2.125	0.41269	D	0.986832	D	0.89917	1.0	D	0.91635	0.999	T	0.77432	-0.2590	9	.	.	.	-37.8185	14.7897	0.69830	0.0:1.0:0.0:0.0	.	210	Q8WTQ4	CP078_HUMAN	S	210	ENSP00000299191:P210S	.	P	+	1	0	C16orf78	47988068	1.000000	0.71417	0.999000	0.59377	0.514000	0.34195	3.483000	0.53194	2.618000	0.88619	0.655000	0.94253	CCA		0.557	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602	
UBN1	29855	broad.mit.edu	37	16	4909934	4909934	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:4909934G>T	ENST00000396658.4	+	5	1339	c.636G>T	c.(634-636)gaG>gaT	p.E212D	UBN1_ENST00000590769.1_Missense_Mutation_p.E212D|UBN1_ENST00000545171.1_Missense_Mutation_p.E212D|UBN1_ENST00000262376.6_Missense_Mutation_p.E212D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	212	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E212D(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGACAAGGAGAAGAAATCGA	0.448																																					p.E212D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G636T	16						.						99.0	91.0	94.0					16																	4909934		2197	4300	6497	4849935	SO:0001583	missense	29855	exon5			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.636G>T	16.37:g.4909934G>T	ENSP00000379894:p.Glu212Asp		4849935	NM_016936	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525410	0.44969	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.51071	1.31;0.72;1.31	5.49	4.47	0.54385	.	0.283829	0.38778	N	0.001563	T	0.31295	0.0792	N	0.19112	0.55	0.35684	D	0.814315	B;B	0.30563	0.285;0.188	B;B	0.30943	0.122;0.057	T	0.37888	-0.9686	10	0.39692	T	0.17	-26.8994	10.0771	0.42366	0.0:0.1474:0.7004:0.1522	.	212;212	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	D	212	ENSP00000262376:E212D;ENSP00000442379:E212D;ENSP00000379894:E212D	ENSP00000262376:E212D	E	+	3	2	UBN1	4849935	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.964000	0.29306	2.735000	0.93741	0.561000	0.74099	GAG		0.448	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936	
ZNF423	23090	broad.mit.edu	37	16	49671296	49671296	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:49671296C>A	ENST00000561648.1	-	4	1820	c.1767G>T	c.(1765-1767)aaG>aaT	p.K589N	ZNF423_ENST00000562520.1_Missense_Mutation_p.K529N|ZNF423_ENST00000262383.2_Missense_Mutation_p.K589N|ZNF423_ENST00000567169.1_Missense_Mutation_p.K472N|ZNF423_ENST00000535559.1_Missense_Mutation_p.K472N|ZNF423_ENST00000563137.2_Missense_Mutation_p.K529N|ZNF423_ENST00000562871.1_Missense_Mutation_p.K529N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	589					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGGAATGTTCTTGTGGTTCT	0.572																																					p.K589N												.	.	0			c.G1767T	16						.						135.0	110.0	118.0					16																	49671296		2198	4300	6498	48228797	SO:0001583	missense	23090	exon5			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1767G>T	16.37:g.49671296C>A	ENSP00000455426:p.Lys589Asn		48228797	NM_015069	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468251	0.43839	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10960	2.82;2.89	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.22589	0.0545	L	0.29908	0.895	0.48975	D	0.99973	D	0.89917	1.0	D	0.87578	0.998	T	0.03068	-1.1076	9	.	.	.	.	17.8389	0.88709	0.0:1.0:0.0:0.0	.	589	Q2M1K9	ZN423_HUMAN	N	589;472	ENSP00000262383:K589N;ENSP00000442321:K472N	.	K	-	3	2	ZNF423	48228797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.070000	0.50033	2.208000	0.71279	0.561000	0.74099	AAG		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
HEATR3	55027	broad.mit.edu	37	16	50128644	50128644	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:50128644A>C	ENST00000299192.7	+	12	1730	c.1539A>C	c.(1537-1539)gaA>gaC	p.E513D	HEATR3_ENST00000285767.4_Missense_Mutation_p.E427D|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	513								p.E513D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ACTTTCTAGAAGCCATAAGTA	0.318																																					p.E513D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1539C	16						.						99.0	102.0	101.0					16																	50128644		2198	4300	6498	48686145	SO:0001583	missense	55027	exon12			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1539A>C	16.37:g.50128644A>C	ENSP00000299192:p.Glu513Asp		48686145	NM_182922	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855602	0.71834	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.67345	-0.26;-0.26	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79505	0.4457	L	0.56769	1.78	0.53005	D	0.99996	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.79090	-0.1946	10	0.46703	T	0.11	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	427;513	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	D	427;513	ENSP00000285767:E427D;ENSP00000299192:E513D	ENSP00000285767:E427D	E	+	3	2	HEATR3	48686145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.751000	0.55165	2.311000	0.77944	0.533000	0.62120	GAA		0.318	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	
PPL	5493	broad.mit.edu	37	16	4934951	4934951	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:4934951G>T	ENST00000345988.2	-	22	3794	c.3705C>A	c.(3703-3705)gtC>gtA	p.V1235V	PPL_ENST00000590782.2_Silent_p.V1233V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1235					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.V1235V(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTACTTAATGACTTCCTTAG	0.567																																					p.V1235V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3705A	16						.						109.0	96.0	101.0					16																	4934951		2197	4300	6497	4874952	SO:0001819	synonymous_variant	5493	exon22			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3705C>A	16.37:g.4934951G>T			4874952	NM_002705	O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.567	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705	
HEATR3	55027	broad.mit.edu	37	16	50136235	50136235	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:50136235T>G	ENST00000299192.7	+	14	2000	c.1809T>G	c.(1807-1809)gcT>gcG	p.A603A	HEATR3_ENST00000285767.4_Silent_p.A517A|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	603								p.A603A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAGGAGAAGCTTTGGATGCCC	0.408																																					p.A603A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1809G	16						.						180.0	162.0	168.0					16																	50136235		2198	4300	6498	48693736	SO:0001819	synonymous_variant	55027	exon14			BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1809T>G	16.37:g.50136235T>G			48693736	NM_182922	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Silent	SNP	ENST00000299192.7	37	CCDS10739.1																																																																																				0.408	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922	
PAPD5	64282	broad.mit.edu	37	16	50257147	50257147	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:50257147T>G	ENST00000561678.1	+	6	929	c.855T>G	c.(853-855)ttT>ttG	p.F285L	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_Missense_Mutation_p.F316L|PAPD5_ENST00000436909.3_Missense_Mutation_p.F395L			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	316					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)		TAATAGAATTTTTTGAATTAT	0.348																																					p.F395L												.	.	0			c.T1185G	16						.						78.0	77.0	77.0					16																	50257147		1804	4071	5875	48814648	SO:0001583	missense	64282	exon8			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.855T>G	16.37:g.50257147T>G	ENSP00000455837:p.Phe285Leu		48814648	NM_001040284	B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37		.	.	.	.	.	.	.	.	.	.	T	23.0	4.364106	0.82353	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	D;D	0.94138	-3.36;-3.36	5.87	4.78	0.61160	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96743	0.9548	10	0.62326	D	0.03	.	9.4857	0.38928	0.0:0.1365:0.0:0.8635	.	395;316	B4DV38;Q8NDF8	.;PAPD5_HUMAN	L	395;316	ENSP00000396995:F395L;ENSP00000350054:F316L	ENSP00000350054:F316L	F	+	3	2	PAPD5	48814648	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.466000	0.45084	1.142000	0.42291	0.533000	0.62120	TTT		0.348	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447	
NKD1	85407	broad.mit.edu	37	16	50667159	50667159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:50667159C>T	ENST00000268459.3	+	10	1104	c.880C>T	c.(880-882)Cga>Tga	p.R294*		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	294					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R294*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAATCCCACTCGATCTCGCTC	0.587																																					p.R294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C880T	16						.						103.0	101.0	102.0					16																	50667159		2198	4300	6498	49224660	SO:0001587	stop_gained	85407	exon10			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.880C>T	16.37:g.50667159C>T	ENSP00000268459:p.Arg294*		49224660	NM_033119	B2RC39|Q8WZ08	Nonsense_Mutation	SNP	ENST00000268459.3	37	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976278	0.74360	.	.	ENSG00000140807	ENST00000268459	.	.	.	4.54	1.13	0.20643	.	0.109667	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.986	8.5192	0.33264	0.362:0.5178:0.1202:0.0	.	.	.	.	X	294	.	ENSP00000268459:R294X	R	+	1	2	NKD1	49224660	0.937000	0.31787	0.077000	0.20336	0.528000	0.34623	1.610000	0.36869	0.507000	0.28148	-0.302000	0.09304	CGA		0.587	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1		
SNX20	124460	broad.mit.edu	37	16	50707905	50707905	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:50707905C>T	ENST00000330943.4	-	4	534	c.363G>A	c.(361-363)gcG>gcA	p.A121A	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570167.1_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	121	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)	p.A121A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCTGGAGCTTCGCGAAGTCGG	0.547																																					p.A121A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G363A	16						.						77.0	70.0	73.0					16																	50707905		2198	4300	6498	49265406	SO:0001819	synonymous_variant	124460	exon4			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.363G>A	16.37:g.50707905C>T			49265406	NM_182854	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	ENST00000330943.4	37	CCDS10745.1																																																																																				0.547	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337	
SALL1	6299	broad.mit.edu	37	16	51173428	51173428	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:51173428G>T	ENST00000251020.4	-	2	2738	c.2705C>A	c.(2704-2706)tCa>tAa	p.S902*	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Nonsense_Mutation_p.S805*|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	902					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACTGAGGATGAATCATTGGT	0.562																																					p.S902X	GBM(103;1352 1446 1855 4775 8890)											.	.	0			c.C2705A	16						.						100.0	77.0	85.0					16																	51173428		2198	4300	6498	49730929	SO:0001587	stop_gained	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2705C>A	16.37:g.51173428G>T	ENSP00000251020:p.Ser902*		49730929	NM_002968	Q99881|Q9NSC3|Q9P1R0	Nonsense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875581	0.91664	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3511	19.3939	0.94598	0.0:0.0:1.0:0.0	.	.	.	.	X	902;805;866	.	ENSP00000251020:S902X	S	-	2	0	SALL1	49730929	1.000000	0.71417	0.979000	0.43373	0.015000	0.08874	9.869000	0.99810	2.579000	0.87056	0.557000	0.71058	TCA		0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
SALL1	6299	broad.mit.edu	37	16	51175982	51175982	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:51175982C>T	ENST00000251020.4	-	2	184	c.151G>A	c.(151-153)Gag>Aag	p.E51K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	51					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E51K(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAAAGAACTCGGCACAGCAC	0.453																																					p.E51K	GBM(103;1352 1446 1855 4775 8890)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G151A	16						.						93.0	99.0	97.0					16																	51175982		2198	4300	6498	49733483	SO:0001583	missense	6299	exon2			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.151G>A	16.37:g.51175982C>T	ENSP00000251020:p.Glu51Lys		49733483	NM_002968	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722184	0.89298	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.49432	0.78	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.75001	-0.3471	10	0.87932	D	0	.	19.1099	0.93313	0.0:1.0:0.0:0.0	.	51	Q9NSC2	SALL1_HUMAN	K	51	ENSP00000251020:E51K	ENSP00000251020:E51K	E	-	1	0	SALL1	49733483	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	7.814000	0.86154	2.499000	0.84300	0.555000	0.69702	GAG		0.453	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
CHD9	80205	broad.mit.edu	37	16	53358229	53358229	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:53358229A>C	ENST00000398510.3	+	38	8203	c.8116A>C	c.(8116-8118)Aac>Cac	p.N2706H	CHD9_ENST00000447540.1_Missense_Mutation_p.N2691H|CHD9_ENST00000564845.1_Missense_Mutation_p.N2690H|CHD9_ENST00000566029.1_Missense_Mutation_p.N2690H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2706					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.N2707H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAAGCTAAAAACATGGCTGC	0.502																																					p.N2690H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8068C	16						.						60.0	59.0	60.0					16																	53358229		1905	4124	6029	51915730	SO:0001583	missense	80205	exon39			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8116A>C	16.37:g.53358229A>C	ENSP00000381522:p.Asn2706His		51915730	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	A	12.50	1.955759	0.34471	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.88354	-2.37	5.47	5.47	0.80525	.	0.095761	0.45126	D	0.000399	D	0.92057	0.7483	L	0.43152	1.355	0.51233	D	0.999916	D;D;D;D	0.76494	0.998;0.969;0.999;0.999	P;P;D;D	0.79108	0.897;0.76;0.981;0.992	D	0.92633	0.6118	10	0.59425	D	0.04	-8.3587	15.8507	0.78927	1.0:0.0:0.0:0.0	.	772;2691;2706;2690	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	H	2691;2690;772	ENSP00000396345:N2691H	ENSP00000381522:N2690H	N	+	1	0	CHD9	51915730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.940000	0.75917	2.203000	0.70933	0.533000	0.62120	AAC		0.502	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
RPGRIP1L	23322	broad.mit.edu	37	16	53686473	53686473	+	Missense_Mutation	SNP	C	C	T	rs74396053		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:53686473C>T	ENST00000379925.3	-	15	2176	c.2126G>A	c.(2125-2127)cGa>cAa	p.R709Q	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R709Q|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R709Q|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R709Q	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	709	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.R709Q(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ACAAAATATTCGGCCGCTTTT	0.338																																					p.R709Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2126A	16						.						36.0	37.0	37.0					16																	53686473		2198	4299	6497	52243974	SO:0001583	missense	23322	exon15				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.2126G>A	16.37:g.53686473C>T	ENSP00000369257:p.Arg709Gln		52243974	NM_001127897	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106845	0.77096	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.93604	-3.25;-3.25	5.71	5.71	0.89125	C2 calcium-dependent membrane targeting (1);	0.240413	0.39909	N	0.001234	D	0.96284	0.8788	M	0.72894	2.215	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71656	0.964;0.964;0.974;0.955	D	0.95124	0.8249	10	0.37606	T	0.19	-11.9445	19.4657	0.94939	0.0:1.0:0.0:0.0	.	709;709;709;709	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	Q	709	ENSP00000369257:R709Q;ENSP00000262135:R709Q	ENSP00000262135:R709Q	R	-	2	0	RPGRIP1L	52243974	0.909000	0.30893	0.596000	0.28811	0.952000	0.60782	1.866000	0.39489	2.691000	0.91804	0.563000	0.77884	CGA		0.338	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
CAPNS2	84290	broad.mit.edu	37	16	55600907	55600907	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:55600907G>A	ENST00000457326.2	+	1	324	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	80					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R80Q(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAAGTTAGGCGATTTCGGCAA	0.488																																					p.R80Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G239A	16						.						76.0	76.0	76.0					16																	55600907		1979	4168	6147	54158408	SO:0001583	missense	84290	exon1			AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.239G>A	16.37:g.55600907G>A	ENSP00000400882:p.Arg80Gln		54158408	NM_032330	Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	G	7.473	0.647072	0.14516	.	.	ENSG00000256812	ENST00000457326	T	0.39406	1.08	5.98	3.86	0.44501	EF-hand-like domain (1);	.	.	.	.	T	0.11452	0.0279	N	0.00926	-1.1	0.30591	N	0.761556	B	0.06786	0.001	B	0.04013	0.001	T	0.32929	-0.9888	9	0.02654	T	1	.	4.3255	0.11038	0.4279:0.0:0.5721:0.0	.	80	Q96L46	CPNS2_HUMAN	Q	80	ENSP00000400882:R80Q	ENSP00000400882:R80Q	R	+	2	0	CAPNS2	54158408	0.971000	0.33674	0.435000	0.26784	0.913000	0.54294	1.970000	0.40520	1.547000	0.49401	0.650000	0.86243	CGA		0.488	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330	
CES1	1066	broad.mit.edu	37	16	55860154	55860154	+	Missense_Mutation	SNP	C	C	T	rs201285602		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:55860154C>T	ENST00000361503.4	-	3	441	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	CES1_ENST00000422046.2_Missense_Mutation_p.R104Q|CES1_ENST00000360526.3_Missense_Mutation_p.R105Q|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	104					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.R105Q(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GTTCTCCTTTCGGTTTGTAAA	0.483																																					p.R104Q	NSCLC(162;1801 2756 42904 52896)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G311A	16						.	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4396		0,0,2198	139.0	162.0	154.0		311,314,311	1.5	0.0	16		154	1,8599		0,1,4299	no	missense,missense,missense	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	43,43,43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	104/568,105/569,104/567	55860154	1,12995	2198	4300	6498	54417655	SO:0001583	missense	1066	exon3			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.311G>A	16.37:g.55860154C>T	ENSP00000355193:p.Arg104Gln		54417655	NM_001266	A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	10.64	1.407641	0.25378	0.0	1.16E-4	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.66815	-0.23;-0.23;-0.23	4.7	1.53	0.23141	Carboxylesterase, type B (1);	1.181780	0.06388	N	0.716421	T	0.40322	0.1112	N	0.12961	0.28	0.09310	N	1	P;P;P	0.43578	0.51;0.701;0.811	B;B;B	0.28638	0.092;0.092;0.087	T	0.31024	-0.9958	10	0.38643	T	0.18	.	4.6067	0.12382	0.0:0.6139:0.1821:0.204	.	104;104;105	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	Q	105;104;104	ENSP00000353720:R105Q;ENSP00000355193:R104Q;ENSP00000390492:R104Q	ENSP00000353720:R105Q	R	-	2	0	CES1	54417655	.	.	0.035000	0.18076	0.020000	0.10135	.	.	0.394000	0.25230	0.400000	0.26472	CGA		0.483	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266	
AMFR	267	broad.mit.edu	37	16	56403130	56403130	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:56403130C>T	ENST00000290649.5	-	11	1700	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	497	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R497Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TACTTGAATCCGTCCTTCTAA	0.393																																					p.R497Q	Pancreas(2;144 323 39528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1490A	16						.						167.0	160.0	163.0					16																	56403130		2198	4300	6498	54960631	SO:0001583	missense	267	exon11			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1490G>A	16.37:g.56403130C>T	ENSP00000290649:p.Arg497Gln		54960631	NM_001144	P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510151	0.85282	.	.	ENSG00000159461	ENST00000290649	T	0.20598	2.06	5.88	5.88	0.94601	Ubiquitin system component Cue (3);	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.60012	1.86	0.80722	D	1	P;P	0.50369	0.84;0.934	B;B	0.43754	0.297;0.43	T	0.01982	-1.1235	10	0.54805	T	0.06	-27.2037	20.2266	0.98341	0.0:1.0:0.0:0.0	.	497;146	Q9UKV5;Q1RN03	AMFR2_HUMAN;.	Q	497	ENSP00000290649:R497Q	ENSP00000290649:R497Q	R	-	2	0	AMFR	54960631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.769000	0.95229	0.655000	0.94253	CGG		0.393	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2		
BBS2	583	broad.mit.edu	37	16	56536701	56536701	+	Missense_Mutation	SNP	C	C	T	rs150572808		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:56536701C>T	ENST00000245157.5	-	8	1244	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Missense_Mutation_p.R275Q	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	275					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R275Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CTCCCCAGTTCGGTCACTTCG	0.373									Bardet-Biedl syndrome																												p.R275Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G824A	16						.	C	GLN/ARG	1,4395	2.1+/-5.4	0,1,2197	64.0	61.0	62.0		824	5.9	1.0	16	dbSNP_134	62	0,8600		0,0,4300	no	missense	BBS2	NM_031885.3	43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	275/722	56536701	1,12995	2198	4300	6498	55094202	SO:0001583	missense	583	exon8	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.824G>A	16.37:g.56536701C>T	ENSP00000245157:p.Arg275Gln		55094202	NM_031885	Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241004	0.95272	2.27E-4	0.0	ENSG00000125124	ENST00000245157	T	0.66099	-0.19	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.68655	-0.5351	10	0.28530	T	0.3	-7.448	20.3207	0.98668	0.0:1.0:0.0:0.0	.	275;275	A8K0N9;Q9BXC9	.;BBS2_HUMAN	Q	275	ENSP00000245157:R275Q	ENSP00000245157:R275Q	R	-	2	0	BBS2	55094202	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.768000	0.85345	2.813000	0.96785	0.561000	0.74099	CGA		0.373	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885	
FAM192A	80011	broad.mit.edu	37	16	57206200	57206200	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:57206200C>T	ENST00000309137.8	-	4	569	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	FAM192A_ENST00000389447.5_Missense_Mutation_p.R104Q|FAM192A_ENST00000567439.1_Missense_Mutation_p.R104Q|FAM192A_ENST00000569266.1_Missense_Mutation_p.R104Q|FAM192A_ENST00000564108.1_Missense_Mutation_p.R104Q|FAM192A_ENST00000566077.1_Missense_Mutation_p.R27Q	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	104						nucleus (GO:0005634)		p.R104Q(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TTCTTCTCTTCGTTGCTTTTC	0.383																																					p.R104Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G311A	16						.						172.0	142.0	151.0					16																	57206200		1854	4093	5947	55763701	SO:0001583	missense	80011	exon4				CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.311G>A	16.37:g.57206200C>T	ENSP00000335808:p.Arg104Gln		55763701	NM_024946		Missense_Mutation	SNP	ENST00000309137.8	37	CCDS42168.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612609	0.46631	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.29	5.29	0.74685	NEFA-interacting nuclear protein NIP30, N-terminal (1);	0.404164	0.26684	N	0.023040	T	0.54631	0.1870	L	0.41906	1.305	0.58432	D	0.999993	B	0.12013	0.005	B	0.12156	0.007	T	0.49943	-0.8885	9	0.14656	T	0.56	-11.1332	19.2996	0.94138	0.0:1.0:0.0:0.0	.	104	Q9GZU8	F192A_HUMAN	Q	104	.	ENSP00000335808:R104Q	R	-	2	0	FAM192A	55763701	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.431000	0.59915	2.648000	0.89879	0.561000	0.74099	CGA		0.383	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433022.2	NM_024946	
CNOT1	23019	broad.mit.edu	37	16	58559183	58559183	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:58559183C>T	ENST00000317147.5	-	46	7016	c.6684G>A	c.(6682-6684)gcG>gcA	p.A2228A	CNOT1_ENST00000245138.4_Silent_p.A1079A|CNOT1_ENST00000569240.1_Silent_p.A2223A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2228					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.A2228A(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGGATGTGCGCAATGGCCT	0.493																																					p.A2228A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6684A	16						.						237.0	172.0	194.0					16																	58559183		2198	4300	6498	57116684	SO:0001819	synonymous_variant	23019	exon46			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6684G>A	16.37:g.58559183C>T			57116684	NM_016284	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Silent	SNP	ENST00000317147.5	37	CCDS10799.1																																																																																				0.493	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284	
CDH8	1006	broad.mit.edu	37	16	61687749	61687749	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:61687749G>A	ENST00000577390.1	-	12	3117	c.2163C>T	c.(2161-2163)gtC>gtT	p.V721V	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	721					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.V721V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAATTCATCGACATCAACAC	0.443																																					p.V721V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2163T	16						.						95.0	99.0	98.0					16																	61687749		2203	4300	6503	60245250	SO:0001819	synonymous_variant	1006	exon12			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2163C>T	16.37:g.61687749G>A			60245250	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	CCDS10802.1																																																																																				0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDH8	1006	broad.mit.edu	37	16	61854904	61854904	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:61854904C>T	ENST00000577390.1	-	6	1903	c.949G>A	c.(949-951)Gat>Aat	p.D317N	CDH8_ENST00000577730.1_Missense_Mutation_p.D317N|CDH8_ENST00000299345.6_Missense_Mutation_p.D317N|CDH8_ENST00000584337.1_Missense_Mutation_p.D317N	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	317	Cadherin 3. {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)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.D317N(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCATCTCCATCGATGATATCA	0.433																																					p.D317N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G949A	16						.						177.0	138.0	151.0					16																	61854904		2203	4300	6503	60412405	SO:0001583	missense	1006	exon6			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.949G>A	16.37:g.61854904C>T	ENSP00000462701:p.Asp317Asn		60412405	NM_001796	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163801	0.78226	.	.	ENSG00000150394	ENST00000299345	T	0.01725	4.67	6.16	6.16	0.99307	Cadherin (4);Cadherin-like (1);	0.129680	0.64402	D	0.000001	T	0.06096	0.0158	L	0.39692	1.235	0.58432	D	0.999991	P;B	0.48998	0.918;0.028	P;B	0.56278	0.795;0.037	T	0.47058	-0.9146	10	0.38643	T	0.18	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	133;317	Q3LID3;P55286	.;CADH8_HUMAN	N	317	ENSP00000299345:D317N	ENSP00000299345:D317N	D	-	1	0	CDH8	60412405	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.781000	0.55394	2.937000	0.99478	0.650000	0.86243	GAT		0.433	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
CDH11	1009	broad.mit.edu	37	16	65032593	65032593	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:65032593T>C	ENST00000268603.4	-	4	1010	c.395A>G	c.(394-396)gAc>gGc	p.D132G	CDH11_ENST00000566827.1_Missense_Mutation_p.D6G|CDH11_ENST00000394156.3_Missense_Mutation_p.D132G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	132	Cadherin 1. {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)	p.D132G(1)		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)		GGTGTCCCTGTCCACCGCCTG	0.512			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																											p.D132G			Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A395G	16						.						150.0	113.0	126.0					16																	65032593		2203	4300	6503	63590094	SO:0001583	missense	1009	exon4			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.395A>G	16.37:g.65032593T>C	ENSP00000268603:p.Asp132Gly		63590094	NM_001797	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.311430	0.81358	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390;ENST00000536902	T;T	0.68765	-0.35;-0.35	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	0.043708	0.85682	D	0.000000	D	0.86192	0.5874	M	0.93678	3.445	0.50467	D	0.999874	D;D	0.71674	0.986;0.998	P;D	0.76071	0.839;0.987	D	0.89701	0.3905	10	0.87932	D	0	.	15.5635	0.76269	0.0:0.0:0.0:1.0	.	132;132	P55287-2;P55287	.;CAD11_HUMAN	G	132;132;115;132	ENSP00000268603:D132G;ENSP00000377711:D132G	ENSP00000268603:D132G	D	-	2	0	CDH11	63590094	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.043000	0.57354	2.326000	0.78906	0.533000	0.62120	GAC		0.512	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	
CDH16	1014	broad.mit.edu	37	16	66944289	66944289	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:66944289C>A	ENST00000299752.4	-	15	2234	c.2041G>T	c.(2041-2043)Gac>Tac	p.D681Y	CDH16_ENST00000568632.1_Missense_Mutation_p.D584Y|CDH16_ENST00000394055.3_Missense_Mutation_p.D659Y|CDH16_ENST00000565796.1_Splice_Site|CDH16_ENST00000570262.1_Missense_Mutation_p.D601Y	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	681	Ectodomain G.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.D681Y(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AAGCCATGGTCTTGGCGGGGT	0.637																																					p.D681Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2041T	16						.						110.0	111.0	111.0					16																	66944289		2200	4300	6500	65501790	SO:0001583	missense	1014	exon15			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2041G>T	16.37:g.66944289C>A	ENSP00000299752:p.Asp681Tyr		65501790	NM_004062	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185332	0.21870	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.55930	0.49;0.49	4.28	2.14	0.27477	.	0.479688	0.20946	N	0.082835	T	0.57504	0.2058	L	0.60455	1.87	0.80722	D	1	D;P;D	0.69078	0.974;0.956;0.997	P;P;P	0.57371	0.748;0.564;0.819	T	0.55842	-0.8077	10	0.59425	D	0.04	-7.2655	6.1863	0.20500	0.0:0.7401:0.0:0.2599	.	659;681;681	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	Y	659;681;645	ENSP00000377619:D659Y;ENSP00000299752:D681Y	ENSP00000299752:D681Y	D	-	1	0	CDH16	65501790	0.828000	0.29307	0.997000	0.53966	0.316000	0.28119	0.094000	0.15107	0.486000	0.27676	0.455000	0.32223	GAC		0.637	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	
CBFB	865	broad.mit.edu	37	16	67116170	67116170	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:67116170G>A	ENST00000290858.6	+	5	715	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	CBFB_ENST00000561924.2_Missense_Mutation_p.E52K|CBFB_ENST00000412916.2_Missense_Mutation_p.E152K	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	152					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E152K(3)|p.E152*(2)		breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AAGGACACGCGAATTTGAAGA	0.438			T	MYH11	AML																																p.E152K			Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	.	.	5	Substitution - Missense(3)|Substitution - Nonsense(2)	large_intestine(3)|breast(2)	c.G454A	16						.						101.0	93.0	96.0					16																	67116170		2200	4300	6500	65673671	SO:0001583	missense	865	exon5			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.454G>A	16.37:g.67116170G>A	ENSP00000290858:p.Glu152Lys		65673671	NM_001755	A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	ENST00000290858.6	37	CCDS10827.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427015	0.62733	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.52	5.52	0.82312	.	0.045192	0.85682	D	0.000000	T	0.50650	0.1628	L	0.49126	1.545	0.80722	D	1	P;P	0.43885	0.82;0.662	B;B	0.32677	0.079;0.15	T	0.59974	-0.7353	9	0.66056	D	0.02	-6.2449	17.9991	0.89193	0.0:0.0:1.0:0.0	.	152;152	Q13951-2;Q13951	.;PEBB_HUMAN	K	152	.	ENSP00000290858:E152K	E	+	1	0	CBFB	65673671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.613000	0.90913	2.599000	0.87857	0.573000	0.79308	GAA		0.438	CBFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268843.2	NM_001755	
CBFB	865	broad.mit.edu	37	16	67132628	67132628	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:67132628G>T	ENST00000290858.6	+	6	803	c.542G>T	c.(541-543)aGa>aTa	p.R181I	CBFB_ENST00000568858.1_3'UTR|CBFB_ENST00000561924.2_Missense_Mutation_p.R81I|CBFB_ENST00000412916.2_Missense_Mutation_p.D171Y	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	181					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.D171Y(1)		breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AAGACAACAAGACCCTAGTCC	0.383			T	MYH11	AML																																p.R181I			Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542T	16						.						231.0	215.0	221.0					16																	67132628		2200	4300	6500	65690129	SO:0001583	missense	865	exon6			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.542G>T	16.37:g.67132628G>T	ENSP00000290858:p.Arg181Ile		65690129	NM_001755	A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	ENST00000290858.6	37	CCDS10827.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.889940|1.889940	0.33348|0.33348	.|.	.|.	ENSG00000067955|ENSG00000067955	ENST00000412916|ENST00000290858	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.785996	.|0.12457	.|N	.|0.467264	T|T	0.49150|0.49150	0.1540|0.1540	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999999|0.999999	D;D|P	0.89917|0.45531	1.0;0.994|0.86	D;D|P	0.87578|0.52309	0.998;0.986|0.695	T|T	0.56583|0.56583	-0.7955|-0.7955	8|9	0.56958|0.87932	D|D	0.05|0	-7.3849|-7.3849	16.4246|16.4246	0.83810|0.83810	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	171;171|181	A8K719;Q13951-2|Q13951	.;.|PEBB_HUMAN	Y|I	171|181	.|.	ENSP00000415151:D171Y|ENSP00000290858:R181I	D|R	+|+	1|2	0|0	CBFB|CBFB	65690129|65690129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.974000|5.974000	0.70465|0.70465	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.383	CBFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268843.2	NM_001755	
LRRC36	55282	broad.mit.edu	37	16	67384147	67384147	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:67384147C>T	ENST00000329956.6	+	5	550	c.531C>T	c.(529-531)agC>agT	p.S177S	LRRC36_ENST00000563189.1_Silent_p.S56S|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000435835.3_Silent_p.S56S|LRRC36_ENST00000563303.1_3'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	177								p.S177S(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CAGGTGAGAGCTCTGCATCAA	0.353																																					p.S177S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C531T	16						.						136.0	142.0	140.0					16																	67384147		2198	4300	6498	65941648	SO:0001819	synonymous_variant	55282	exon5			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.531C>T	16.37:g.67384147C>T			65941648	NM_018296	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	CCDS32467.1																																																																																				0.353	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296	
LRRC36	55282	broad.mit.edu	37	16	67404902	67404902	+	Silent	SNP	G	G	A	rs367698342		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:67404902G>A	ENST00000329956.6	+	9	1270	c.1251G>A	c.(1249-1251)gaG>gaA	p.E417E	LRRC36_ENST00000563189.1_Silent_p.E296E|LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000290940.7_Silent_p.E149E|LRRC36_ENST00000435835.3_Silent_p.E296E	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	417								p.E417E(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCAATGTAGAGCAACAATTAT	0.498																																					p.E417E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1251A	16						.	G	,	0,4396		0,0,2198	186.0	159.0	168.0		888,1251	-0.5	1.0	16		168	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRC36	NM_001161575.1,NM_018296.5	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	296/634,417/755	67404902	1,12995	2198	4300	6498	65962403	SO:0001819	synonymous_variant	55282	exon9			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1251G>A	16.37:g.67404902G>A			65962403	NM_018296	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Silent	SNP	ENST00000329956.6	37	CCDS32467.1																																																																																				0.498	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296	
GFOD2	81577	broad.mit.edu	37	16	67709803	67709803	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:67709803G>A	ENST00000268797.7	-	3	758	c.413C>T	c.(412-414)tCg>tTg	p.S138L	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	138					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.S138L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		ATAGTGTTCCGAAATCAGCTG	0.592																																					p.S138L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C413T	16						.						100.0	84.0	90.0					16																	67709803		2198	4300	6498	66267304	SO:0001583	missense	81577	exon3			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.413C>T	16.37:g.67709803G>A	ENSP00000268797:p.Ser138Leu		66267304	NM_030819	Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	G	2.192	-0.385155	0.04966	.	.	ENSG00000141098	ENST00000268797	T	0.44083	0.93	5.01	3.93	0.45458	NAD(P)-binding domain (1);	0.413915	0.27739	N	0.018058	T	0.17831	0.0428	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.05084	-1.0907	10	0.45353	T	0.12	-15.2265	5.8455	0.18663	0.1003:0.0:0.5977:0.3019	.	138	Q3B7J2	GFOD2_HUMAN	L	138	ENSP00000268797:S138L	ENSP00000268797:S138L	S	-	2	0	GFOD2	66267304	0.671000	0.27521	0.027000	0.17364	0.010000	0.07245	2.503000	0.45407	2.480000	0.83734	0.563000	0.77884	TCG		0.592	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819	
DPEP2	64174	broad.mit.edu	37	16	68025748	68025748	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:68025748T>G	ENST00000572888.1	-	4	1305	c.655A>C	c.(655-657)Aca>Cca	p.T219P	DPEP2_ENST00000412757.2_Missense_Mutation_p.T219P|DPEP2_ENST00000393847.1_Missense_Mutation_p.T219P			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	219					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACCAGGGTGTGTTGCAGGTG	0.592																																					p.T219P												.	.	0			c.A655C	16						.						89.0	79.0	83.0					16																	68025748		2198	4300	6498	66583249	SO:0001583	missense	64174	exon5			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.655A>C	16.37:g.68025748T>G	ENSP00000458977:p.Thr219Pro		66583249	NM_022355	B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350418	0.82132	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.24350	1.86;1.86	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65845	-0.6069	10	0.87932	D	0	-6.1697	13.7035	0.62624	0.0:0.0:0.0:1.0	.	219;132	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	P	219;219;132	ENSP00000377430:T219P;ENSP00000412549:T219P	ENSP00000314702:T132P	T	-	1	0	DPEP2	66583249	1.000000	0.71417	0.989000	0.46669	0.741000	0.42261	7.599000	0.82757	2.144000	0.66660	0.459000	0.35465	ACA		0.592	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355	
PLA2G15	23659	broad.mit.edu	37	16	68293405	68293405	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:68293405A>G	ENST00000219345.5	+	6	1167	c.1084A>G	c.(1084-1086)Act>Gct	p.T362A	PLA2G15_ENST00000566188.1_3'UTR|RP11-96D1.7_ENST00000569843.1_RNA|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Missense_Mutation_p.T268A|PLA2G15_ENST00000444212.2_Missense_Mutation_p.T162A	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	362					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGGCGATGGTACTGTGAACTT	0.582																																					p.T362A												.	.	0			c.A1084G	16						.						76.0	71.0	73.0					16																	68293405		2198	4300	6498	66850906	SO:0001583	missense	23659	exon6			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.1084A>G	16.37:g.68293405A>G	ENSP00000219345:p.Thr362Ala		66850906	NM_012320	B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.002138	0.93227	.	.	ENSG00000103066	ENST00000413021;ENST00000219345;ENST00000444212	D;D;D	0.97186	-4.28;-4.28;-3.57	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.99632	1.0986	10	0.66056	D	0.02	-24.8397	16.0532	0.80777	1.0:0.0:0.0:0.0	.	162;268;362	B4DPU0;B4DUD1;Q8NCC3	.;.;PAG15_HUMAN	A	268;362;162	ENSP00000394197:T268A;ENSP00000219345:T362A;ENSP00000393610:T162A	ENSP00000219345:T362A	T	+	1	0	PLA2G15	66850906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.242000	0.95408	2.271000	0.75665	0.533000	0.62120	ACT		0.582	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320	
SMPD3	55512	broad.mit.edu	37	16	68404957	68404957	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:68404957C>A	ENST00000219334.5	-	3	1731	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000563226.1_Missense_Mutation_p.E376D|SMPD3_ENST00000568373.1_Missense_Mutation_p.E376D	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	376					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.E376D(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CGTGCAGCTGCTCTTTCAATT	0.587																																					p.E376D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1128T	16						.						76.0	60.0	65.0					16																	68404957		2198	4300	6498	66962458	SO:0001583	missense	55512	exon3			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1128G>T	16.37:g.68404957C>A	ENSP00000219334:p.Glu376Asp		66962458	NM_018667	B7ZL82|Q2M1S8	Missense_Mutation	SNP	ENST00000219334.5	37	CCDS10867.1	.	.	.	.	.	.	.	.	.	.	C	6.908	0.537154	0.13188	.	.	ENSG00000103056	ENST00000219334	T	0.28454	1.61	5.24	0.389	0.16269	Endonuclease/exonuclease/phosphatase (2);	0.537578	0.21044	N	0.081104	T	0.16599	0.0399	N	0.19112	0.55	0.33884	D	0.636511	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28396	-1.0045	10	0.15066	T	0.55	-10.7218	11.2036	0.48756	0.0:0.5395:0.3432:0.1173	.	376;376;376	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	D	376	ENSP00000219334:E376D	ENSP00000219334:E376D	E	-	3	2	SMPD3	66962458	0.923000	0.31300	1.000000	0.80357	0.988000	0.76386	0.043000	0.13971	0.140000	0.18849	-0.256000	0.11100	GAG		0.587	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268895.3	NM_018667	
ZFP90	146198	broad.mit.edu	37	16	68597679	68597679	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:68597679G>A	ENST00000570495.1	+	5	1281	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	ZFP90_ENST00000563169.2_Missense_Mutation_p.R330Q|ZFP90_ENST00000398253.2_Missense_Mutation_p.R330Q			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	330					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R330Q(2)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CAACACCAGCGAATTCACACT	0.512																																					p.R330Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G989A	16						.						63.0	70.0	68.0					16																	68597679		2172	4295	6467	67155180	SO:0001583	missense	146198	exon4			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.989G>A	16.37:g.68597679G>A	ENSP00000460547:p.Arg330Gln		67155180	NM_133458	B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893355	0.91889	.	.	ENSG00000184939	ENST00000398253	T	0.24723	1.84	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49270	0.1547	L	0.52823	1.66	0.41641	D	0.989072	D	0.89917	1.0	D	0.97110	1.0	T	0.36335	-0.9752	9	0.72032	D	0.01	-18.6122	18.3732	0.90420	0.0:0.0:1.0:0.0	.	330	Q8TF47	ZFP90_HUMAN	Q	330	ENSP00000381304:R330Q	ENSP00000381304:R330Q	R	+	2	0	ZFP90	67155180	0.127000	0.22367	1.000000	0.80357	0.996000	0.88848	2.361000	0.44160	2.941000	0.99782	0.655000	0.94253	CGA		0.512	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375	
CDH3	1001	broad.mit.edu	37	16	68721465	68721465	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:68721465G>A	ENST00000264012.4	+	12	2165	c.1621G>A	c.(1621-1623)Gtc>Atc	p.V541I	CDH3_ENST00000429102.2_Missense_Mutation_p.V541I|CDH3_ENST00000581171.1_Missense_Mutation_p.V486I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	541	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.V541I(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ACTGATTGATGTCAATGACCA	0.562																																					p.V541I												.	.	3	Unknown(2)|Substitution - Missense(1)	breast(2)|large_intestine(1)	c.G1621A	16						.						123.0	111.0	115.0					16																	68721465		2198	4300	6498	67278966	SO:0001583	missense	1001	exon12			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1621G>A	16.37:g.68721465G>A	ENSP00000264012:p.Val541Ile		67278966	NM_001793	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	3.531	-0.095666	0.07010	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.62498	0.02;0.02	5.29	2.08	0.27032	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.454594	0.16253	N	0.222628	T	0.47021	0.1423	L	0.43152	1.355	0.37071	D	0.898553	B	0.06786	0.001	B	0.04013	0.001	T	0.31668	-0.9935	10	0.12430	T	0.62	.	7.3312	0.26584	0.3389:0.0:0.6611:0.0	.	541	P22223	CADH3_HUMAN	I	541;541;486	ENSP00000398485:V541I;ENSP00000264012:V541I	ENSP00000264012:V541I	V	+	1	0	CDH3	67278966	0.045000	0.20229	0.213000	0.23690	0.355000	0.29361	0.310000	0.19356	0.132000	0.18615	0.563000	0.77884	GTC		0.562	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793	
CDH1	999	broad.mit.edu	37	16	68845625	68845625	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:68845625G>A	ENST00000261769.5	+	7	1062	c.871G>A	c.(871-873)Gat>Aat	p.D291N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D291N|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	291	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)|p.D291N(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGACGCGGACGATGATGTGAA	0.498			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																												p.D291N		yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|breast(1)	c.G871A	16						.						126.0	107.0	114.0					16																	68845625		2198	4300	6498	67403126	SO:0001583	missense	999	exon7	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.871G>A	16.37:g.68845625G>A	ENSP00000261769:p.Asp291Asn		67403126	NM_004360	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334329	0.95758	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.61040	0.14;0.14	5.08	5.08	0.68730	Cadherin (5);Cadherin-like (1);	0.000000	0.52532	D	0.000071	T	0.78953	0.4365	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.82362	-0.0495	10	0.87932	D	0	.	18.4491	0.90696	0.0:0.0:1.0:0.0	.	291;291	Q9UII8;P12830	.;CADH1_HUMAN	N	291	ENSP00000261769:D291N;ENSP00000414946:D291N	ENSP00000261769:D291N	D	+	1	0	CDH1	67403126	1.000000	0.71417	0.145000	0.22337	0.911000	0.54048	9.476000	0.97823	2.524000	0.85096	0.561000	0.74099	GAT		0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
COG4	25839	broad.mit.edu	37	16	70546245	70546245	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:70546245T>G	ENST00000323786.5	-	5	656	c.635A>C	c.(634-636)aAg>aCg	p.K212T	COG4_ENST00000564653.1_Intron|COG4_ENST00000393612.4_Missense_Mutation_p.K208T	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	208					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ATCACCTTCCTTGGTGGCAAT	0.507																																					p.K212T												.	.	0			c.A635C	16						.						94.0	81.0	86.0					16																	70546245		2198	4300	6498	69103746	SO:0001583	missense	25839	exon5			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.635A>C	16.37:g.70546245T>G	ENSP00000315775:p.Lys212Thr		69103746	NM_015386	B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	T	16.60	3.169523	0.57584	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.46819	0.92;0.92;0.86	5.53	4.44	0.53790	Conserved oligomeric Golgi complex, subunit 4 (2);	0.141077	0.64402	D	0.000005	T	0.48768	0.1518	L	0.50333	1.59	0.52099	D	0.999945	P;P	0.37141	0.584;0.584	B;B	0.43990	0.253;0.438	T	0.49504	-0.8933	10	0.66056	D	0.02	-15.9226	10.9604	0.47383	0.0:0.0724:0.0:0.9276	.	207;208	Q6PIW8;Q9H9E3	.;COG4_HUMAN	T	212;208;208;135	ENSP00000315775:K212T;ENSP00000377236:K208T;ENSP00000461912:K135T	ENSP00000315775:K212T	K	-	2	0	COG4	69103746	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	4.045000	0.57368	0.959000	0.37980	0.533000	0.62120	AAG		0.507	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3		
HYDIN	54768	broad.mit.edu	37	16	70900143	70900143	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:70900143G>A	ENST00000393567.2	-	67	11550	c.11400C>T	c.(11398-11400)ttC>ttT	p.F3800F	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3800					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.F3799F(1)|p.F3751F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTATGAAGCGAAATCCACAT	0.448																																					p.F3799F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C11397T	16						.						25.0	23.0	23.0					16																	70900143		1787	4029	5816	69457644	SO:0001819	synonymous_variant	54768	exon67			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11400C>T	16.37:g.70900143G>A			69457644	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.448	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70908434	70908434	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:70908434G>A	ENST00000393567.2	-	64	10872	c.10722C>T	c.(10720-10722)gtC>gtT	p.V3574V	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3574					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.V3573V(1)|p.V3525V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGGAAAACGACATCAAATT	0.453																																					p.V3573V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C10719T	16						.						4.0	4.0	4.0					16																	70908434		1646	3786	5432	69465935	SO:0001819	synonymous_variant	54768	exon64			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10722C>T	16.37:g.70908434G>A			69465935	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.453	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70937544	70937544	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:70937544G>A	ENST00000393567.2	-	52	8983	c.8833C>T	c.(8833-8835)Cgg>Tgg	p.R2945W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2945					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R2944W(1)|p.R2896W(1)|p.R502W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCAAGAGCCGGTCAAAATGT	0.493																																					p.R2944W												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C8830T	16						.						1.0	1.0	1.0					16																	70937544		28	85	113	69495045	SO:0001583	missense	54768	exon52			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8833C>T	16.37:g.70937544G>A	ENSP00000377197:p.Arg2945Trp		69495045	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524711	0.85600	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01287	5.05	5.25	4.23	0.50019	.	0.380554	0.15026	U	0.284754	T	0.06826	0.0174	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.04041	-1.0982	10	0.62326	D	0.03	.	10.4906	0.44748	0.0:0.0:0.5802:0.4198	.	2944	F8WD23	.	W	2945;2944	ENSP00000377197:R2945W	ENSP00000313052:R2944W	R	-	1	2	HYDIN	69495045	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.781000	0.75068	2.434000	0.82447	0.603000	0.83216	CGG		0.493	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	70986416	70986416	+	Missense_Mutation	SNP	G	G	A	rs370204963		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:70986416G>A	ENST00000393567.2	-	41	6589	c.6439C>T	c.(6439-6441)Cgt>Tgt	p.R2147C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2147					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R2098C(1)|p.R2146C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACGCTCCCACGAACACTCTTT	0.527																																					p.R2146C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6436T	16						.	G	CYS/ARG	0,3720		0,0,1860	17.0	17.0	17.0		6436	3.9	1.0	16		17	1,8165		0,1,4082	no	missense	HYDIN	NM_032821.2	180	0,1,5942	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	2146/5121	70986416	1,11885	1860	4083	5943	69543917	SO:0001583	missense	54768	exon41			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6439C>T	16.37:g.70986416G>A	ENSP00000377197:p.Arg2147Cys		69543917	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453179	0.84209	0.0	1.22E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01043	5.41	3.91	3.91	0.45181	.	0.000000	0.33023	U	0.005365	T	0.05273	0.0140	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.39901	-0.9591	10	0.62326	D	0.03	.	15.1723	0.72884	0.0:0.0:1.0:0.0	.	2146	F8WD23	.	C	2147;2146	ENSP00000377197:R2147C	ENSP00000313052:R2146C	R	-	1	0	HYDIN	69543917	0.747000	0.28283	0.991000	0.47740	0.425000	0.31504	2.987000	0.49378	2.178000	0.69098	0.195000	0.17529	CGT		0.527	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71008183	71008183	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71008183G>A	ENST00000393567.2	-	33	5080	c.4930C>T	c.(4930-4932)Cgt>Tgt	p.R1644C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1644					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R1643C(1)|p.R1595C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTTACACGATCTAGCTCA	0.428																																					p.R1643C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4927T	16						.						27.0	25.0	26.0					16																	71008183		1826	4074	5900	69565684	SO:0001583	missense	54768	exon33			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4930C>T	16.37:g.71008183G>A	ENSP00000377197:p.Arg1644Cys		69565684	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282497	0.59867	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01059	5.39	4.68	3.64	0.41730	.	0.000000	0.33691	U	0.004650	T	0.06508	0.0167	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02721	-1.1119	10	0.72032	D	0.01	.	12.5805	0.56388	0.0:0.0:0.8333:0.1667	.	1643	F8WD23	.	C	1644;1643	ENSP00000377197:R1644C	ENSP00000313052:R1643C	R	-	1	0	HYDIN	69565684	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	4.158000	0.58150	2.310000	0.77875	0.400000	0.26472	CGT		0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71021901	71021901	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71021901C>T	ENST00000393567.2	-	27	4270	c.4120G>A	c.(4120-4122)Gaa>Aaa	p.E1374K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1374					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E1325K(1)|p.E1373K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGTTATTTCGTAGGTGGGT	0.463																																					p.E1373K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4117A	16						.						1.0	1.0	1.0					16																	71021901		2	2	4	69579402	SO:0001583	missense	54768	exon27			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4120G>A	16.37:g.71021901C>T	ENSP00000377197:p.Glu1374Lys		69579402	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434835	0.62955	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01015	5.44	4.84	4.84	0.62591	.	0.000000	0.33180	U	0.005183	T	0.04907	0.0132	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60606	-0.7230	10	0.21540	T	0.41	.	17.8809	0.88840	0.0:1.0:0.0:0.0	.	1373	F8WD23	.	K	1374;1373	ENSP00000377197:E1374K	ENSP00000313052:E1373K	E	-	1	0	HYDIN	69579402	1.000000	0.71417	0.986000	0.45419	0.662000	0.39071	6.731000	0.74785	2.399000	0.81585	0.609000	0.83330	GAA		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71025259	71025259	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71025259C>A	ENST00000393567.2	-	25	3976	c.3826G>T	c.(3826-3828)Gaa>Taa	p.E1276*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1276					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E1276*(1)|p.E1228*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTTAGTTCTTTTTCTTCA	0.473																																					p.E1276X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3826T	16						.						111.0	104.0	106.0					16																	71025259		1903	4145	6048	69582760	SO:0001587	stop_gained	54768	exon25			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3826G>T	16.37:g.71025259C>A	ENSP00000377197:p.Glu1276*		69582760	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	39	7.453163	0.98292	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	3.41	2.44	0.29823	.	0.565554	0.12443	U	0.468464	.	.	.	.	.	.	0.20563	N	0.999884	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	8.782	0.34798	0.0:0.7683:0.2317:0.0	.	.	.	.	X	1276	.	ENSP00000313052:E1276X	E	-	1	0	HYDIN	69582760	0.197000	0.23362	0.037000	0.18230	0.161000	0.22273	0.904000	0.28491	0.991000	0.38814	0.436000	0.28706	GAA		0.473	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71052117	71052117	+	Missense_Mutation	SNP	G	G	A	rs199955766		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71052117G>A	ENST00000393567.2	-	23	3709	c.3559C>T	c.(3559-3561)Cgc>Tgc	p.R1187C	HYDIN_ENST00000448089.2_Missense_Mutation_p.R1139C	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1187					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R1139C(2)|p.R1187C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTAACGTAGCGAATGAGCTCA	0.502																																					p.R1187C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C3559T	16						.						1.0	1.0	1.0					16																	71052117		261	618	879	69609618	SO:0001583	missense	54768	exon23			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3559C>T	16.37:g.71052117G>A	ENSP00000377197:p.Arg1187Cys		69609618	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484496	0.63962	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089	T;T	0.04809	5.43;3.55	5.37	5.37	0.77165	.	0.000000	0.32563	U	0.005922	T	0.21307	0.0513	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	P	0.62014	0.897	T	0.00232	-1.1895	10	0.52906	T	0.07	.	18.6874	0.91570	0.0:0.0:1.0:0.0	.	1187	F8WD23	.	C	1187;1187;1139	ENSP00000377197:R1187C;ENSP00000398544:R1139C	ENSP00000313052:R1187C	R	-	1	0	HYDIN	69609618	0.873000	0.30073	0.803000	0.32268	0.496000	0.33645	4.341000	0.59335	2.536000	0.85505	0.505000	0.49811	CGC		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	broad.mit.edu	37	16	71103366	71103366	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71103366G>T	ENST00000393567.2	-	14	1928	c.1778C>A	c.(1777-1779)tCt>tAt	p.S593Y	HYDIN_ENST00000538248.1_Missense_Mutation_p.S620Y|HYDIN_ENST00000288168.10_Missense_Mutation_p.S610Y|HYDIN_ENST00000448691.1_Missense_Mutation_p.S593Y|HYDIN_ENST00000541601.1_Missense_Mutation_p.S610Y|HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000321489.5_Missense_Mutation_p.S593Y|HYDIN_ENST00000448089.2_Missense_Mutation_p.S593Y|HYDIN_ENST00000393550.2_Missense_Mutation_p.S608Y	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	593					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.S593Y(3)|p.S608Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGGATCAAAGAGGTATTATT	0.438																																					p.S593Y												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C1778A	16						.						27.0	29.0	28.0					16																	71103366		2196	4296	6492	69660867	SO:0001583	missense	54768	exon14			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1778C>A	16.37:g.71103366G>T	ENSP00000377197:p.Ser593Tyr		69660867	NM_032821	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648094	0.67358	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.35605	4.45;3.1;3.16;3.16;3.13;3.13;2.3;1.3	4.98	4.98	0.66077	.	0.000000	0.33040	U	0.005358	T	0.65322	0.2680	M	0.85630	2.765	0.46874	D	0.999235	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	T	0.72037	-0.4411	10	0.72032	D	0.01	.	17.0742	0.86582	0.0:0.0:1.0:0.0	.	620;610;610;593;593	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	Y	593;593;593;593;593;620;610;610;608	ENSP00000377197:S593Y;ENSP00000398544:S593Y;ENSP00000394826:S593Y;ENSP00000314736:S593Y;ENSP00000444970:S620Y;ENSP00000437341:S610Y;ENSP00000288168:S610Y;ENSP00000377181:S608Y	ENSP00000288168:S610Y	S	-	2	0	HYDIN	69660867	1.000000	0.71417	0.992000	0.48379	0.614000	0.37383	7.371000	0.79600	2.319000	0.78375	0.537000	0.68136	TCT		0.438	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
ZNF19	7567	broad.mit.edu	37	16	71509257	71509257	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71509257C>A	ENST00000288177.5	-	6	1448	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	ZNF19_ENST00000567225.1_Intron|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.R398I|ZNF19_ENST00000565100.2_Missense_Mutation_p.R328I|ZNF19_ENST00000565637.1_Missense_Mutation_p.R356I	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R398I(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ATGAAGATTTCTTTTGCTAGT	0.428																																					p.R398I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1193T	16						.						95.0	90.0	92.0					16																	71509257		2198	4300	6498	70066758	SO:0001583	missense	7567	exon6			X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.1193G>T	16.37:g.71509257C>A	ENSP00000288177:p.Arg398Ile		70066758	NM_006961	A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	9.163	1.019312	0.19355	.	.	ENSG00000157429	ENST00000288177	T	0.14893	2.47	2.97	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.417832	0.17737	N	0.163694	T	0.08935	0.0221	N	0.26130	0.795	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20240	-1.0281	10	0.87932	D	0	.	2.6043	0.04874	0.3186:0.4251:0.1558:0.1004	.	398	P17023	ZNF19_HUMAN	I	398	ENSP00000288177:R398I	ENSP00000288177:R398I	R	-	2	0	ZNF19	70066758	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.726000	0.04936	-0.272000	0.09259	-1.014000	0.02459	AGA		0.428	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961	
TAT	6898	broad.mit.edu	37	16	71602062	71602062	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71602062C>T	ENST00000355962.4	-	12	1483	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	450					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.E450E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TATCACACTCCTCCTGGCTGC	0.582																																					p.E450E	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1350A	16						.						86.0	68.0	74.0					16																	71602062		2198	4300	6498	70159563	SO:0001819	synonymous_variant	6898	exon12				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1350G>A	16.37:g.71602062C>T			70159563	NM_000353	B2R8I1|D3DWS2	Silent	SNP	ENST00000355962.4	37	CCDS10903.1																																																																																				0.582	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1		
PHLPP2	23035	broad.mit.edu	37	16	71689152	71689152	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71689152A>G	ENST00000568954.1	-	17	2954	c.2576T>C	c.(2575-2577)gTa>gCa	p.V859A	PHLPP2_ENST00000540628.1_Missense_Mutation_p.V69A|PHLPP2_ENST00000393524.2_Missense_Mutation_p.V792A|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000360429.3_Missense_Mutation_p.V859A|PHLPP2_ENST00000567016.1_Missense_Mutation_p.V894A|PHLPP2_ENST00000356272.3_Missense_Mutation_p.V859A			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	859	PP2C-like.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.V859A(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CCTGTGAGATACCAAGAAGGT	0.428																																					p.V859A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2576C	16						.						175.0	168.0	170.0					16																	71689152		2198	4300	6498	70246653	SO:0001583	missense	23035	exon16			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.2576T>C	16.37:g.71689152A>G	ENSP00000457991:p.Val859Ala		70246653	NM_015020	A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.460680	0.63513	.	.	ENSG00000040199	ENST00000540628;ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.42	5.42	0.78866	Protein phosphatase 2C-like (3);	0.110081	0.64402	D	0.000006	T	0.13329	0.0323	L	0.35593	1.075	0.43160	D	0.994942	P;P	0.44578	0.838;0.835	B;P	0.45071	0.414;0.468	T	0.09422	-1.0675	10	0.09843	T	0.71	-13.2309	14.6387	0.68708	1.0:0.0:0.0:0.0	.	792;859	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	A	69;666;859;859;792	ENSP00000445781:V69A;ENSP00000353610:V859A;ENSP00000348611:V859A;ENSP00000377159:V792A	ENSP00000299971:V666A	V	-	2	0	PHLPP2	70246653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.188000	0.72045	2.050000	0.60909	0.533000	0.62120	GTA		0.428	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020	
AP1G1	164	broad.mit.edu	37	16	71768554	71768554	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71768554C>T	ENST00000299980.4	-	22	2766	c.2325G>A	c.(2323-2325)acG>acA	p.T775T	AP1G1_ENST00000564155.1_Silent_p.T200T|AP1G1_ENST00000423132.2_Silent_p.T778T|AP1G1_ENST00000433195.2_Silent_p.T798T|AP1G1_ENST00000393512.3_Silent_p.T778T|AP1G1_ENST00000569748.1_Silent_p.T775T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	775	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.T775T(2)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGATGGTCCCCGTGTTAAATG	0.453																																					p.T778T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G2334A	16						.						253.0	251.0	252.0					16																	71768554		2198	4300	6498	70326055	SO:0001819	synonymous_variant	164	exon23			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2325G>A	16.37:g.71768554C>T			70326055	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	CCDS32480.1																																																																																				0.453	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
AP1G1	164	broad.mit.edu	37	16	71808401	71808401	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:71808401A>G	ENST00000299980.4	-	3	737	c.296T>C	c.(295-297)gTc>gCc	p.V99A	AP1G1_ENST00000423132.2_Missense_Mutation_p.V99A|AP1G1_ENST00000433195.2_Missense_Mutation_p.V122A|AP1G1_ENST00000393512.3_Missense_Mutation_p.V99A|AP1G1_ENST00000569748.1_Missense_Mutation_p.V99A	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	99					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.V99A(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GAGAAGATGGACATCTTGTCT	0.368																																					p.V99A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T296C	16						.						157.0	154.0	155.0					16																	71808401		2198	4300	6498	70365902	SO:0001583	missense	164	exon3			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.296T>C	16.37:g.71808401A>G	ENSP00000299980:p.Val99Ala		70365902	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027909	0.54790	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422;ENST00000450149	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	4.84	4.84	0.62591	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.057080	0.64402	D	0.000001	T	0.32406	0.0828	L	0.54965	1.715	0.80722	D	1	B;B;B;B	0.22276	0.067;0.003;0.019;0.004	B;B;B;B	0.25614	0.044;0.019;0.062;0.009	T	0.10941	-1.0608	10	0.46703	T	0.11	-3.2556	14.8472	0.70270	1.0:0.0:0.0:0.0	.	181;99;122;99	B4DS96;O43747;B3KXW5;O43747-2	.;AP1G1_HUMAN;.;.	A	99;99;99;122;181;99	ENSP00000299980:V99A;ENSP00000377148:V99A;ENSP00000409153:V99A;ENSP00000403259:V122A;ENSP00000405836:V99A	ENSP00000299980:V99A	V	-	2	0	AP1G1	70365902	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.138000	0.77305	1.972000	0.57404	0.467000	0.42956	GTC		0.368	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
DHX38	9785	broad.mit.edu	37	16	72130091	72130091	+	Missense_Mutation	SNP	G	G	A	rs201334464		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:72130091G>A	ENST00000268482.3	+	2	544	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	DHX38_ENST00000536867.1_Missense_Mutation_p.R12Q|TXNL4B_ENST00000426362.2_5'Flank|TXNL4B_ENST00000268483.3_5'Flank|TXNL4B_ENST00000423037.1_5'Flank	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	12					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R12Q(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCGATCCATCGATTGGAAGGC	0.537																																					p.R12Q	Melanoma(97;711 1442 7855 13832 28836)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G35A	16						.						87.0	67.0	74.0					16																	72130091		2198	4300	6498	70687592	SO:0001583	missense	9785	exon2			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.35G>A	16.37:g.72130091G>A	ENSP00000268482:p.Arg12Gln		70687592	NM_014003	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982893	0.74474	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.17054	3.81;2.3	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.74389	2.26	0.27396	N	0.955006	D;D	0.64830	0.994;0.994	P;P	0.61201	0.885;0.885	T	0.28996	-1.0026	10	0.62326	D	0.03	.	18.0135	0.89231	0.0:0.0:1.0:0.0	.	12;12	B4DVG8;Q92620	.;PRP16_HUMAN	Q	12	ENSP00000268482:R12Q;ENSP00000437898:R12Q	ENSP00000268482:R12Q	R	+	2	0	DHX38	70687592	1.000000	0.71417	0.974000	0.42286	0.830000	0.47004	8.870000	0.92336	2.314000	0.78098	0.561000	0.74099	CGA		0.537	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003	
PMFBP1	83449	broad.mit.edu	37	16	72156821	72156821	+	Silent	SNP	G	G	A	rs199780184		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:72156821G>A	ENST00000537792.1	-	3	257	c.258C>T	c.(256-258)ggC>ggT	p.G86G	PMFBP1_ENST00000355636.6_Silent_p.G775G|PMFBP1_ENST00000237353.10_Silent_p.G920G|PMFBP1_ENST00000537465.1_Silent_p.G925G			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	925						cytoplasm (GO:0005737)		p.G920G(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ACTCCTTTTCGCCACTCAGCT	0.522																																					p.G775G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2325T	16						.						82.0	80.0	81.0					16																	72156821		2198	4300	6498	70714322	SO:0001819	synonymous_variant	83449	exon20			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.258C>T	16.37:g.72156821G>A			70714322	NM_001160213	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Silent	SNP	ENST00000537792.1	37																																																																																					0.522	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1	NM_031293	
ZFHX3	463	broad.mit.edu	37	16	72845844	72845844	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:72845844G>A	ENST00000268489.5	-	6	4295	c.3623C>T	c.(3622-3624)tCg>tTg	p.S1208L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S294L|RP5-991G20.2_ENST00000558618.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1208					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|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)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S1208L(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGTCGCTTCGAAGAGAGGGG	0.537																																					p.S1208L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3623T	16						.						160.0	161.0	160.0					16																	72845844		2198	4300	6498	71403345	SO:0001583	missense	463	exon6			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3623C>T	16.37:g.72845844G>A	ENSP00000268489:p.Ser1208Leu		71403345	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835564	0.50951	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73681	-0.77;-0.75	5.86	5.86	0.93980	.	0.149880	0.30869	N	0.008715	T	0.56217	0.1970	N	0.19112	0.55	0.47994	D	0.999562	P	0.40083	0.702	B	0.30401	0.115	T	0.59402	-0.7461	10	0.36615	T	0.2	.	13.4154	0.60966	0.0758:0.0:0.9242:0.0	.	1208	Q15911	ZFHX3_HUMAN	L	1208;294	ENSP00000268489:S1208L;ENSP00000438926:S294L	ENSP00000268489:S1208L	S	-	2	0	ZFHX3	71403345	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	6.259000	0.72494	2.937000	0.99478	0.650000	0.86243	TCG		0.537	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
GLG1	2734	broad.mit.edu	37	16	74487188	74487188	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:74487188C>A	ENST00000422840.2	-	26	3416	c.3417G>T	c.(3415-3417)atG>atT	p.M1139I	GLG1_ENST00000447066.2_Missense_Mutation_p.M1128I|GLG1_ENST00000205061.5_Missense_Mutation_p.M1139I	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1139					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.M1139I(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ATGGAGACGTCATTACTTGCA	0.498																																					p.M1128I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3384T	16						.						165.0	137.0	146.0					16																	74487188		2198	4300	6498	73044689	SO:0001583	missense	2734	exon25				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3417G>T	16.37:g.74487188C>A	ENSP00000405984:p.Met1139Ile		73044689	NM_001145666	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	7.163	0.586092	0.13749	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.54	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	L	0.47716	1.5	0.58432	D	0.999997	B;B;B;B	0.23806	0.012;0.091;0.058;0.02	B;B;B;B	0.25291	0.011;0.024;0.059;0.027	T	0.50524	-0.8818	9	0.19590	T	0.45	.	15.7083	0.77602	0.138:0.862:0.0:0.0	.	269;1139;1139;1128	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	I	1139;1128;1139	.	ENSP00000205061:M1139I	M	-	3	0	GLG1	73044689	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	5.564000	0.67359	1.311000	0.45024	-0.426000	0.05927	ATG		0.498	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	
RFWD3	55159	broad.mit.edu	37	16	74671831	74671831	+	Missense_Mutation	SNP	C	C	T	rs141439715		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:74671831C>T	ENST00000361070.4	-	7	1214	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	RFWD3_ENST00000571750.1_Missense_Mutation_p.E373K	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	373					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E373K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GATTCTAACTCGGCCTGTTTC	0.502																																					p.E373K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1117A	16						.						134.0	116.0	122.0					16																	74671831		2198	4300	6498	73229332	SO:0001583	missense	55159	exon7			AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1117G>A	16.37:g.74671831C>T	ENSP00000354361:p.Glu373Lys		73229332	NM_018124	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337890	0.81911	.	.	ENSG00000168411	ENST00000361070	T	0.22945	1.93	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	M	0.82923	2.615	0.80722	D	1	B	0.19817	0.039	B	0.15052	0.012	T	0.37502	-0.9703	10	0.66056	D	0.02	-1.0088	18.893	0.92412	0.0:1.0:0.0:0.0	.	373	Q6PCD5	RFWD3_HUMAN	K	373	ENSP00000354361:E373K	ENSP00000354361:E373K	E	-	1	0	RFWD3	73229332	1.000000	0.71417	0.830000	0.32933	0.905000	0.53344	7.193000	0.77780	2.519000	0.84933	0.655000	0.94253	GAG		0.502	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124	
CNTNAP4	85445	broad.mit.edu	37	16	76555187	76555187	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:76555187T>G	ENST00000476707.1	+	15	2664	c.2525T>G	c.(2524-2526)tTt>tGt	p.F842C	CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F790C|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.F838C|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F766C			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	839	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.F838C(1)|p.F766C(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATTGCTGATTTTATACGGATA	0.358																																					p.L839V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2515G	16						.						200.0	191.0	194.0					16																	76555187		1815	4073	5888	75112688	SO:0001583	missense	85445	exon16			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2525T>G	16.37:g.76555187T>G	ENSP00000417628:p.Phe842Cys		75112688	NM_033401	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	T	19.80	3.894379	0.72639	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.99	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42420	D	0.000715	D	0.90998	0.7169	.	.	.	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.987;0.989	D	0.92328	0.5871	9	0.87932	D	0	.	14.8443	0.70249	0.0:0.0:0.0:1.0	.	766;842;839	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	C	838;790;766;842	ENSP00000306893:F838C;ENSP00000439733:F790C;ENSP00000418741:F766C;ENSP00000417628:F842C	ENSP00000306893:F838C	F	+	2	0	CNTNAP4	75112688	1.000000	0.71417	0.111000	0.21465	0.929000	0.56500	6.008000	0.70739	2.109000	0.64355	0.459000	0.35465	TTT		0.358	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401	
MON1B	22879	broad.mit.edu	37	16	77232019	77232019	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:77232019C>T	ENST00000248248.3	+	6	1808	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	SYCE1L_ENST00000378644.4_5'Flank|MON1B_ENST00000545553.1_Silent_p.F340F|MON1B_ENST00000439557.2_Silent_p.F377F	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	486								p.F486F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CCTCCAAATTCGAGCTCTATA	0.577																																					p.F486F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1458T	16						.						194.0	194.0	194.0					16																	77232019		2198	4300	6498	75789520	SO:0001819	synonymous_variant	22879	exon6			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.1458C>T	16.37:g.77232019C>T			75789520	NM_014940	B4DDZ0|O94949	Silent	SNP	ENST00000248248.3	37	CCDS10925.1																																																																																				0.577	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940	
ADAMTS18	170692	broad.mit.edu	37	16	77396073	77396073	+	Missense_Mutation	SNP	C	C	A	rs368783738		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:77396073C>A	ENST00000282849.5	-	7	1563	c.1145G>T	c.(1144-1146)aGa>aTa	p.R382I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	382	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		R -> K (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R382K(2)|p.R382I(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGATCATGTCTCTTGCCATT	0.413																																					p.R382I												ADAMTS18,large_intestine,colon,Substitution - Missense,0 	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1145T	16						.						149.0	125.0	133.0					16																	77396073		2198	4300	6498	75953574	SO:0001583	missense	170692	exon7			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1145G>T	16.37:g.77396073C>A	ENSP00000282849:p.Arg382Ile		75953574	NM_199355	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157126	0.94686	.	.	ENSG00000140873	ENST00000282849	D	0.87029	-2.2	5.26	5.26	0.73747	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.056950	0.64402	D	0.000005	D	0.92743	0.7693	M	0.69358	2.11	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.93066	0.6478	10	0.72032	D	0.01	.	18.0516	0.89351	0.0:1.0:0.0:0.0	.	382	Q8TE60	ATS18_HUMAN	I	382	ENSP00000282849:R382I	ENSP00000282849:R382I	R	-	2	0	ADAMTS18	75953574	0.997000	0.39634	1.000000	0.80357	0.967000	0.64934	3.187000	0.50950	2.733000	0.93635	0.655000	0.94253	AGA		0.413	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		
RBFOX1	54715	broad.mit.edu	37	16	7759066	7759066	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:7759066G>A	ENST00000550418.1	+	15	1992	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	RBFOX1_ENST00000340209.4_Missense_Mutation_p.R340Q|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R356Q|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R308Q|RBFOX1_ENST00000547372.1_Missense_Mutation_p.E396K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.E374K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R356Q|RBFOX1_ENST00000535565.2_Missense_Mutation_p.E310K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R335Q|RBFOX1_ENST00000552089.1_Missense_Mutation_p.E370K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R378Q	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	335					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)	p.R356Q(1)|p.E374K(1)		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						AGTTACGGACGAGTTTATGCT	0.453																																					p.E374K	Ovarian(157;934 2567 15163 39509)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1120A	16						.						209.0	188.0	195.0					16																	7759066		2197	4300	6497	7699067	SO:0001583	missense	54715	exon13			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.1004G>A	16.37:g.7759066G>A	ENSP00000450031:p.Arg335Gln		7699067	NM_145893	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.070959|5.070959	0.93950|0.93950	.|.	.|.	ENSG00000078328|ENSG00000078328	ENST00000547372;ENST00000535565;ENST00000552089;ENST00000355637|ENST00000550418;ENST00000553186;ENST00000422070;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000352951;ENST00000340209	T;T|T;T;T;T;T;T;T	0.26223|0.54675	1.75;1.85|0.95;1.48;1.36;0.95;0.56;1.02;0.94	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.158183	.|0.44097	.|D	.|0.000494	T|T	0.71600|0.71600	0.3359|0.3359	M|M	0.63843|0.63843	1.955|1.955	0.58432|0.58432	D|D	0.999998|0.999998	P;P|D;D;D;D;D;D	0.50710|0.89917	0.938;0.89|0.999;1.0;0.999;1.0;1.0;1.0	B;B|D;D;D;D;D;D	0.36567|0.97110	0.228;0.167|0.994;0.999;0.994;1.0;1.0;1.0	T|T	0.69113|0.69113	-0.5231|-0.5231	9|10	0.87932|0.42905	D|T	0|0.14	-3.7652|-3.7652	19.7525|19.7525	0.96273|0.96273	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	310;374|329;378;356;356;308;335	F5H0M1;Q9NWB1-5|F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-3;Q9NWB1	.;.|.;.;.;.;.;RFOX1_HUMAN	K|Q	396;310;370;374|335;308;378;335;356;356;329;340	ENSP00000446842:E396K;ENSP00000347855:E374K|ENSP00000450031:R335Q;ENSP00000447753:R308Q;ENSP00000391269:R378Q;ENSP00000447717:R335Q;ENSP00000402745:R356Q;ENSP00000309117:R356Q;ENSP00000344196:R340Q	ENSP00000347855:E374K|ENSP00000309117:R356Q	E|R	+|+	1|2	0|0	RBFOX1|RBFOX1	7699067|7699067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.997000|8.997000	0.93544|0.93544	2.666000|2.666000	0.90696|0.90696	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.453	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
WWOX	51741	broad.mit.edu	37	16	78198085	78198085	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:78198085G>A	ENST00000566780.1	+	5	781	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	WWOX_ENST00000355860.3_Missense_Mutation_p.E139K|WWOX_ENST00000565791.1_3'UTR|WWOX_ENST00000408984.3_Missense_Mutation_p.E139K|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Missense_Mutation_p.E139K	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	139	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)	p.E139K(2)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CATAGGGTTCGAAACCGCCAA	0.458																																					p.E139K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G415A	16						.						115.0	112.0	113.0					16																	78198085		1947	4136	6083	76755586	SO:0001583	missense	51741	exon5			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.415G>A	16.37:g.78198085G>A	ENSP00000457230:p.Glu139Lys		76755586	NM_130791	A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735516	0.49045	.	.	ENSG00000186153	ENST00000408984;ENST00000355860;ENST00000406884	T;T;T	0.54279	1.86;0.58;0.58	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	M	0.92738	3.34	0.58432	D	0.999997	P;D;P	0.71674	0.669;0.998;0.887	B;D;P	0.63877	0.086;0.919;0.493	T	0.83121	-0.0118	10	0.59425	D	0.04	.	18.3289	0.90262	0.0:0.0:1.0:0.0	.	139;139;139	Q9NZC7-5;Q9NZC7;Q9NZC7-3	.;WWOX_HUMAN;.	K	139	ENSP00000386161:E139K;ENSP00000348119:E139K;ENSP00000384495:E139K	ENSP00000348119:E139K	E	+	1	0	WWOX	76755586	1.000000	0.71417	0.899000	0.35326	0.333000	0.28666	7.051000	0.76627	2.623000	0.88846	0.655000	0.94253	GAA		0.458	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1		
CENPN	55839	broad.mit.edu	37	16	81053803	81053803	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:81053803C>T	ENST00000305850.5	+	6	1243	c.453C>T	c.(451-453)taC>taT	p.Y151Y	CENPN_ENST00000428963.2_Silent_p.Y151Y|CENPN_ENST00000299572.5_Silent_p.Y151Y|CMC2_ENST00000565914.1_5'UTR|CENPN_ENST00000439957.3_Silent_p.Y131Y|CENPN_ENST00000393335.3_Silent_p.Y151Y|RP11-303E16.3_ENST00000562315.1_RNA	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	151					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Y151Y(1)|p.Y131Y(1)		breast(1)|large_intestine(5)|lung(4)	10						AACCTACCTACGTGGTGTACT	0.493																																					p.Y151Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C453T	16						.						140.0	101.0	114.0					16																	81053803		2202	4300	6502	79611304	SO:0001819	synonymous_variant	55839	exon6			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.453C>T	16.37:g.81053803C>T			79611304	NM_018455	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Silent	SNP	ENST00000305850.5	37	CCDS42200.1																																																																																				0.493	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455	
C16orf46	123775	broad.mit.edu	37	16	81095179	81095179	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:81095179C>T	ENST00000299578.5	-	4	1010	c.775G>A	c.(775-777)Gat>Aat	p.D259N	C16orf46_ENST00000378611.4_Missense_Mutation_p.D259N|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'Flank	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	259						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D259N(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCTTTCCCATCTGCTGTTTTC	0.512																																					p.D259N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	16						.						149.0	132.0	138.0					16																	81095179		2201	4299	6500	79652680	SO:0001583	missense	123775	exon4			BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.775G>A	16.37:g.81095179C>T	ENSP00000299578:p.Asp259Asn		79652680	NM_152337	Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	6.332	0.429339	0.11987	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.19532	2.14;2.14	5.5	3.56	0.40772	.	0.322422	0.26470	N	0.024183	T	0.14917	0.0360	N	0.25485	0.75	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.17433	0.018;0.018	T	0.18272	-1.0342	10	0.52906	T	0.07	.	9.833	0.40952	0.0:0.8374:0.0:0.1626	.	259;259	Q6P387-2;Q6P387	.;CP046_HUMAN	N	259	ENSP00000367874:D259N;ENSP00000299578:D259N	ENSP00000299578:D259N	D	-	1	0	C16orf46	79652680	0.048000	0.20356	0.002000	0.10522	0.001000	0.01503	1.615000	0.36922	0.687000	0.31509	-0.244000	0.11960	GAT		0.512	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337	
PKD1L2	114780	broad.mit.edu	37	16	81213274	81213274	+	RNA	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:81213274C>A	ENST00000527937.1	-	0	294				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.E746*(2)|p.E61*(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGGATGACCTCTCCCCGGGAC	0.522																																					p.E746X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G2236T	16						.						88.0	92.0	91.0					16																	81213274		1935	4133	6068	79770775			114780	exon13			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81213274C>A			79770775	NM_052892	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Nonsense_Mutation	SNP	ENST00000527937.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.258653|4.258653	0.80246|0.80246	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000531391;ENST00000337114;ENST00000527937|ENST00000526632	.|.	.|.	.|.	5.02|5.02	1.85|1.85	0.25348|0.25348	.|.	3.522020|.	0.00531|.	N|.	0.000204|.	.|T	.|0.63426	.|0.2510	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68352	.|-0.5431	.|3	0.51188|.	T|.	0.08|.	0.802|0.802	14.9696|14.9696	0.71223|0.71223	0.0:0.3435:0.6565:0.0|0.0:0.3435:0.6565:0.0	.|.	.|.	.|.	.|.	X|I	61;746;61|273	.|.	ENSP00000337397:E746X|.	E|R	-|-	1|2	0|0	PKD1L2|PKD1L2	79770775|79770775	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.121000|0.121000	0.20230|0.20230	0.231000|0.231000	0.17872|0.17872	0.120000|0.120000	0.18254|0.18254	-0.502000|-0.502000	0.04539|0.04539	GAG|AGA		0.522	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1		
GAN	8139	broad.mit.edu	37	16	81397413	81397413	+	Silent	SNP	C	C	T	rs142479585		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:81397413C>T	ENST00000568107.2	+	7	1263	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	367					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.F367F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GACATAACTTCGGAATTGTGG	0.373																																					p.F367F	GBM(106;1239 1507 7582 9741 33976)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1101T	16						.	C		1,4403	2.1+/-5.4	0,1,2201	179.0	159.0	166.0		1101	0.1	1.0	16	dbSNP_134	166	0,8600		0,0,4300	no	coding-synonymous	GAN	NM_022041.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		367/598	81397413	1,13003	2202	4300	6502	79954914	SO:0001819	synonymous_variant	8139	exon7			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1101C>T	16.37:g.81397413C>T			79954914	NM_022041		Silent	SNP	ENST00000568107.2	37	CCDS10935.1																																																																																				0.373	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3		
PLCG2	5336	broad.mit.edu	37	16	81942093	81942093	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:81942093G>A	ENST00000359376.3	+	17	1844	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	544	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.E544K(4)|p.E544*(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GACGAGTGCCGAGAAGTTGCT	0.547																																					p.E544K												.	.	6	Substitution - Missense(4)|Substitution - Nonsense(2)	large_intestine(4)|lung(2)	c.G1630A	16						.						78.0	82.0	81.0					16																	81942093		2016	4177	6193	80499594	SO:0001583	missense	5336	exon17				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1630G>A	16.37:g.81942093G>A	ENSP00000352336:p.Glu544Lys		80499594	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	35	5.471535	0.96274	.	.	ENSG00000197943	ENST00000359376	T	0.36157	1.27	4.85	4.85	0.62838	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (4);	0.098987	0.64402	D	0.000002	T	0.68063	0.2960	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.72338	0.977;0.794	T	0.75175	-0.3410	10	0.46703	T	0.11	.	17.982	0.89144	0.0:0.0:1.0:0.0	.	411;544	B4E3H3;P16885	.;PLCG2_HUMAN	K	544	ENSP00000352336:E544K	ENSP00000352336:E544K	E	+	1	0	PLCG2	80499594	1.000000	0.71417	0.985000	0.45067	0.982000	0.71751	9.416000	0.97383	2.249000	0.74217	0.655000	0.94253	GAG		0.547	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
PLCG2	5336	broad.mit.edu	37	16	81968078	81968078	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:81968078C>T	ENST00000359376.3	+	26	2998	c.2784C>T	c.(2782-2784)atC>atT	p.I928I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	928					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.I928I(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCATCGCCATCGAGCTCTCTG	0.483																																					p.I928I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2784T	16						.						84.0	90.0	88.0					16																	81968078		1982	4159	6141	80525579	SO:0001819	synonymous_variant	5336	exon26				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2784C>T	16.37:g.81968078C>T			80525579	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	CCDS42204.1																																																																																				0.483	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
PLCG2	5336	broad.mit.edu	37	16	81969848	81969848	+	Missense_Mutation	SNP	G	G	A	rs568724894		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:81969848G>A	ENST00000359376.3	+	27	3131	c.2917G>A	c.(2917-2919)Gac>Aac	p.D973N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	973	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.D973N(4)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAAGCCCGTCGACCTCCTGAA	0.527																																					p.D973N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2917A	16						.						73.0	76.0	75.0					16																	81969848		1954	4151	6105	80527349	SO:0001583	missense	5336	exon27				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2917G>A	16.37:g.81969848G>A	ENSP00000352336:p.Asp973Asn		80527349	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228364	0.39399	.	.	ENSG00000197943	ENST00000359376	T	0.54279	0.58	4.79	4.79	0.61399	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.154254	0.56097	D	0.000024	T	0.44953	0.1318	L	0.35249	1.045	0.54753	D	0.999985	D	0.53885	0.963	B	0.43990	0.438	T	0.32025	-0.9922	10	0.15952	T	0.53	.	17.8393	0.88710	0.0:0.0:1.0:0.0	.	973	P16885	PLCG2_HUMAN	N	973	ENSP00000352336:D973N	ENSP00000352336:D973N	D	+	1	0	PLCG2	80527349	1.000000	0.71417	0.123000	0.21794	0.042000	0.13812	4.847000	0.62867	2.208000	0.71279	0.561000	0.74099	GAC		0.527	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
PLCG2	5336	broad.mit.edu	37	16	81969957	81969957	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:81969957T>C	ENST00000359376.3	+	27	3240	c.3026T>C	c.(3025-3027)aTg>aCg	p.M1009T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1009	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.M1009T(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGTTCTCAGATGGTGGCACTC	0.567																																					p.M1009T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3026C	16						.						67.0	71.0	70.0					16																	81969957		2096	4220	6316	80527458	SO:0001583	missense	5336	exon27				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3026T>C	16.37:g.81969957T>C	ENSP00000352336:p.Met1009Thr		80527458	NM_002661	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159444	0.78226	.	.	ENSG00000197943	ENST00000359376	T	0.71579	-0.58	4.79	4.79	0.61399	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.94021	3.485	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.90842	0.4724	10	0.87932	D	0	.	14.3363	0.66592	0.0:0.0:0.0:1.0	.	1009	P16885	PLCG2_HUMAN	T	1009	ENSP00000352336:M1009T	ENSP00000352336:M1009T	M	+	2	0	PLCG2	80527458	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.040000	0.89188	1.793000	0.52555	0.459000	0.35465	ATG		0.567	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
CDH13	1012	broad.mit.edu	37	16	83250956	83250956	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:83250956G>A	ENST00000566620.1	+	5	780	c.490G>A	c.(490-492)Gat>Aat	p.D164N	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.D211N|CDH13_ENST00000428848.3_Missense_Mutation_p.D125N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	164	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.D164N(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CTAGGTAGTCGATAGTGACAG	0.438																																					p.D164N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G490A	16						.						87.0	84.0	85.0					16																	83250956		1873	4109	5982	81808457	SO:0001583	missense	1012	exon5			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.490G>A	16.37:g.83250956G>A	ENSP00000454435:p.Asp164Asn		81808457	NM_001257	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613559	0.66672	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.78003	-1.14	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79364	0.4433	N	0.16790	0.44	0.80722	D	1	D;P;P	0.89917	1.0;0.803;0.72	D;P;B	0.72625	0.978;0.585;0.187	T	0.77178	-0.2683	9	0.27082	T	0.32	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	125;211;164	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	N	211;164;125	ENSP00000268613:D211N	ENSP00000268613:D211N	D	+	1	0	CDH13	81808457	0.810000	0.29049	0.345000	0.25642	0.845000	0.48019	2.476000	0.45171	2.720000	0.93068	0.557000	0.71058	GAT		0.438	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
MLYCD	23417	broad.mit.edu	37	16	83945958	83945959	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	GT	GT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:83945958_83945959GT>TA	ENST00000262430.4	+	4	953_954	c.934_935GT>TA	c.(934-936)GTc>TAc	p.V312Y	RP11-505K9.4_ENST00000566309.1_Missense_Mutation_p.V82Y|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	312	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)	p.V312>?(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AAAGCGAGTCGTCAAGGAGTTG	0.564																																					.												.	.	1	Complex(1)	large_intestine(1)	c.934_935TA	16						.																																			82503460	SO:0001583	missense	23417	exon4			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		Exception_encountered	16.37:g.83945958_83945959delinsTA	ENSP00000262430:p.Val312Tyr		82503459	NM_012213	Q9UNU5|Q9Y3F2	Missense_Mutation	DNP	ENST00000262430.4	37	CCDS42206.1																																																																																				0.564	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213	
USP10	9100	broad.mit.edu	37	16	84796646	84796646	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:84796646C>T	ENST00000219473.7	+	9	1719	c.1606C>T	c.(1606-1608)Cat>Tat	p.H536Y	USP10_ENST00000570191.1_Missense_Mutation_p.H540Y	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	536	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAATGGACTTCATGAGGAAAT	0.408																																					p.H536Y												.	.	0			c.C1606T	16						.						164.0	153.0	157.0					16																	84796646		1909	4120	6029	83354147	SO:0001583	missense	9100	exon9			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1606C>T	16.37:g.84796646C>T	ENSP00000219473:p.His536Tyr		83354147	NM_005153	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857418	0.91433	.	.	ENSG00000103194	ENST00000219473;ENST00000397953	T	0.34859	1.34	5.47	5.47	0.80525	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.100551	0.64402	D	0.000002	T	0.70500	0.3231	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.77910	-0.2411	10	0.87932	D	0	-25.5749	18.6894	0.91577	0.0:1.0:0.0:0.0	.	540;536	Q14694-3;Q14694	.;UBP10_HUMAN	Y	536;98	ENSP00000219473:H536Y	ENSP00000219473:H536Y	H	+	1	0	USP10	83354147	1.000000	0.71417	0.549000	0.28204	0.928000	0.56348	7.292000	0.78731	2.724000	0.93272	0.561000	0.74099	CAT		0.408	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1		
CRISPLD2	83716	broad.mit.edu	37	16	84888423	84888423	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:84888423T>C	ENST00000262424.5	+	6	921	c.697T>C	c.(697-699)Ttg>Ctg	p.L233L	AC025280.1_ENST00000584136.1_RNA|CRISPLD2_ENST00000564567.1_Silent_p.L233L|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Silent_p.L233L	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	233					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.L233L(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CAGGAACAACTTGTGTTACCG	0.517																																					p.L233L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T697C	16						.						131.0	131.0	131.0					16																	84888423		2199	4300	6499	83445924	SO:0001819	synonymous_variant	83716	exon6			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.697T>C	16.37:g.84888423T>C			83445924	NM_031476	D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	CCDS10949.1																																																																																				0.517	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476	
IRF8	3394	broad.mit.edu	37	16	85942616	85942616	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:85942616G>A	ENST00000268638.5	+	3	617	c.195G>A	c.(193-195)ggG>ggA	p.G65G	IRF8_ENST00000563180.1_Silent_p.G65G	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	65					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.G65G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TTTTTAAAGGGAAGTTTAAAG	0.473																																					p.G65G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G195A	16						.						55.0	59.0	58.0					16																	85942616		2198	4300	6498	84500117	SO:0001819	synonymous_variant	3394	exon3			M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.195G>A	16.37:g.85942616G>A			84500117	NM_002163	A0AV82	Silent	SNP	ENST00000268638.5	37	CCDS10956.1																																																																																				0.473	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163	
ZCCHC14	23174	broad.mit.edu	37	16	87445157	87445157	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:87445157T>G	ENST00000268616.4	-	12	2976	c.2759A>C	c.(2758-2760)gAc>gCc	p.D920A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	920							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CTGTTTGCAGTCCTGGGCGCG	0.607																																					p.D920A												.	.	0			c.A2759C	16						.						93.0	101.0	99.0					16																	87445157		2198	4300	6498	86002658	SO:0001583	missense	23174	exon12			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2759A>C	16.37:g.87445157T>G	ENSP00000268616:p.Asp920Ala		86002658	NM_015144	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027475	0.54683	.	.	ENSG00000140948	ENST00000268616	T	0.79749	-1.3	5.31	5.31	0.75309	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.054025	0.64402	D	0.000001	D	0.86564	0.5963	M	0.65498	2.005	0.46774	D	0.999196	P;D	0.52996	0.946;0.957	P;P	0.57324	0.723;0.818	D	0.88261	0.2923	10	0.87932	D	0	-45.7289	15.5471	0.76112	0.0:0.0:0.0:1.0	.	920;920	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	A	920	ENSP00000268616:D920A	ENSP00000268616:D920A	D	-	2	0	ZCCHC14	86002658	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.365000	0.66116	2.133000	0.65898	0.533000	0.62120	GAC		0.607	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	
USP7	7874	broad.mit.edu	37	16	9004624	9004624	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:9004624T>C	ENST00000344836.4	-	11	1337	c.1139A>G	c.(1138-1140)gAc>gGc	p.D380G	USP7_ENST00000535863.1_Missense_Mutation_p.D281G|USP7_ENST00000381886.4_Missense_Mutation_p.D364G	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	380	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D380G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTCCCCAGCGTCGTATTTATT	0.363																																					p.D380G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1139G	16						.						165.0	135.0	146.0					16																	9004624		2197	4300	6497	8912125	SO:0001583	missense	7874	exon11			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1139A>G	16.37:g.9004624T>C	ENSP00000343535:p.Asp380Gly		8912125	NM_003470	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059136	0.55325	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.05580	3.42;3.42;3.42	5.35	5.35	0.76521	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.992;0.997	T	0.02232	-1.1191	10	0.34782	T	0.22	.	15.6207	0.76805	0.0:0.0:0.0:1.0	.	380;364	Q93009;B7Z815	UBP7_HUMAN;.	G	380;388;281;281;322	ENSP00000343535:D380G;ENSP00000443646:D281G;ENSP00000439272:D322G	ENSP00000343535:D380G	D	-	2	0	USP7	8912125	1.000000	0.71417	0.969000	0.41365	0.821000	0.46438	7.832000	0.86757	2.157000	0.67596	0.448000	0.29417	GAC		0.363	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2		
GRIN2A	2903	broad.mit.edu	37	16	9857020	9857020	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:9857020C>T	ENST00000396573.2	-	14	4690	c.4381G>A	c.(4381-4383)Gaa>Aaa	p.E1461K	GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1461K|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1461K|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1461					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E1461K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACATCAGATTCGATACTAGGC	0.368																																					p.E1461K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4381A	16						.						58.0	63.0	61.0					16																	9857020		2197	4300	6497	9764521	SO:0001583	missense	2903	exon14				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4381G>A	16.37:g.9857020C>T	ENSP00000379818:p.Glu1461Lys		9764521	NM_000833	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389161	0.82902	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.28069	1.63;1.63;1.63	5.79	5.79	0.91817	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.57365	-0.7824	9	.	.	.	.	19.0281	0.92941	0.0:1.0:0.0:0.0	.	1461	Q12879	NMDE1_HUMAN	K	1461	ENSP00000379818:E1461K;ENSP00000332549:E1461K;ENSP00000379820:E1461K	.	E	-	1	0	GRIN2A	9764521	1.000000	0.71417	0.963000	0.40424	0.900000	0.52787	7.395000	0.79876	2.733000	0.93635	0.655000	0.94253	GAA		0.368	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GRIN2A	2903	broad.mit.edu	37	16	9858098	9858098	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:9858098G>A	ENST00000396573.2	-	14	3612	c.3303C>T	c.(3301-3303)gtC>gtT	p.V1101V	GRIN2A_ENST00000404927.2_Silent_p.V1101V|GRIN2A_ENST00000396575.2_Silent_p.V1101V|GRIN2A_ENST00000562109.1_Silent_p.V1101V|GRIN2A_ENST00000330684.3_Silent_p.V1101V|GRIN2A_ENST00000535259.1_Silent_p.V944V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1101					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V1101V(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGTGCGCTCGACCTCACTAC	0.493																																					p.V1101V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3303T	16						.						155.0	144.0	148.0					16																	9858098		2197	4300	6497	9765599	SO:0001819	synonymous_variant	2903	exon13				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3303C>T	16.37:g.9858098G>A			9765599	NM_001134408	O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	CCDS10539.1																																																																																				0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
CA5A	763	broad.mit.edu	37	16	87970045	87970045	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr16:87970045C>T	ENST00000309893.2	-	1	77	c.12G>A	c.(10-12)agG>agA	p.R4R	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	4					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.R4R(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	TCCAAGTGTTCCTCCCCAACA	0.547																																					p.R4R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12A	16						.						122.0	113.0	116.0					16																	87970045		2198	4300	6498	86527546	SO:0001819	synonymous_variant	763	exon1			L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.12G>A	16.37:g.87970045C>T			86527546	NM_001739	B2RPF2	Silent	SNP	ENST00000309893.2	37	CCDS10965.1																																																																																				0.547	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739	
MYH13	8735	broad.mit.edu	37	17	10209878	10209878	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10209878C>A	ENST00000418404.3	-	36	5527	c.5364G>T	c.(5362-5364)aaG>aaT	p.K1788N	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.K1788N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1788					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K1788K(2)|p.K1788N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTCCAGGTTCTTCTTCATCC	0.567																																					p.K1788N												.	.	4	Substitution - Missense(2)|Substitution - coding silent(2)	large_intestine(2)|breast(2)	c.G5364T	17						.						134.0	133.0	133.0					17																	10209878		2203	4300	6503	10150603	SO:0001583	missense	8735	exon37			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5364G>T	17.37:g.10209878C>A	ENSP00000404570:p.Lys1788Asn		10150603	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636198	0.87760	.	.	ENSG00000006788	ENST00000252172	T	0.77750	-1.12	4.22	4.22	0.49857	Myosin tail (1);	.	.	.	.	D	0.90803	0.7112	H	0.94734	3.575	0.49687	D	0.999816	D	0.55605	0.972	D	0.65573	0.936	D	0.93659	0.6980	9	0.87932	D	0	.	17.1412	0.86754	0.0:1.0:0.0:0.0	.	1788	Q9UKX3	MYH13_HUMAN	N	1788	ENSP00000252172:K1788N	ENSP00000252172:K1788N	K	-	3	2	MYH13	10150603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.899000	0.56288	2.347000	0.79759	0.491000	0.48974	AAG		0.567	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH13	8735	broad.mit.edu	37	17	10222127	10222127	+	Missense_Mutation	SNP	C	C	T	rs376739694		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10222127C>T	ENST00000418404.3	-	26	3881	c.3718G>A	c.(3718-3720)Gag>Aag	p.E1240K	RP11-401O9.4_ENST00000609088.1_RNA|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E1240K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1240					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1240K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GAGAGAGCCTCGATGTTGCTG	0.567																																					p.E1240K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3718A	17						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	98.0	96.0	97.0		3718	4.1	0.1	17		97	0,8600		0,0,4300	no	missense	MYH13	NM_003802.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1240/1939	10222127	1,13005	2203	4300	6503	10162852	SO:0001583	missense	8735	exon27			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3718G>A	17.37:g.10222127C>T	ENSP00000404570:p.Glu1240Lys		10162852	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365970	0.61513	2.27E-4	0.0	ENSG00000006788	ENST00000252172	T	0.79033	-1.23	4.05	4.05	0.47172	Myosin tail (1);	.	.	.	.	D	0.89305	0.6677	M	0.89353	3.025	0.41380	D	0.987543	D	0.76494	0.999	D	0.70487	0.969	D	0.91975	0.5590	9	0.72032	D	0.01	.	16.7633	0.85517	0.0:1.0:0.0:0.0	.	1240	Q9UKX3	MYH13_HUMAN	K	1240	ENSP00000252172:E1240K	ENSP00000252172:E1240K	E	-	1	0	MYH13	10162852	1.000000	0.71417	0.066000	0.19879	0.168000	0.22595	4.755000	0.62198	2.236000	0.73375	0.591000	0.81541	GAG		0.567	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH13	8735	broad.mit.edu	37	17	10235473	10235473	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10235473C>A	ENST00000418404.3	-	19	2404	c.2241G>T	c.(2239-2241)gaG>gaT	p.E747D	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E747D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	747	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E747D(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGAGGAGCTTCTCTGAGGCAT	0.537																																					p.E747D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2241T	17						.						151.0	155.0	154.0					17																	10235473		2082	4231	6313	10176198	SO:0001583	missense	8735	exon20			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2241G>T	17.37:g.10235473C>A	ENSP00000404570:p.Glu747Asp		10176198	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.712763	0.68730	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	T	0.73152	-0.72	4.35	2.3	0.28687	Myosin head, motor domain (2);	.	.	.	.	T	0.74419	0.3714	M	0.91561	3.22	0.34969	D	0.752993	B	0.09022	0.002	B	0.21917	0.037	T	0.77877	-0.2424	9	0.51188	T	0.08	.	8.8717	0.35320	0.0:0.7316:0.0:0.2684	.	747	Q9UKX3	MYH13_HUMAN	D	747;422	ENSP00000252172:E747D	ENSP00000252172:E747D	E	-	3	2	MYH13	10176198	0.047000	0.20315	1.000000	0.80357	0.769000	0.43574	-0.586000	0.05787	1.116000	0.41820	0.655000	0.94253	GAG		0.537	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH13	8735	broad.mit.edu	37	17	10258071	10258071	+	Missense_Mutation	SNP	C	C	T	rs371327620		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10258071C>T	ENST00000418404.3	-	10	1094	c.931G>A	c.(931-933)Gac>Aac	p.D311N	MYH13_ENST00000252172.4_Missense_Mutation_p.D311N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	311	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D311N(4)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGGGGAAGTCGAAGGGGTTG	0.458																																					p.D311N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G931A	17						.	C	ASN/ASP	2,3890		0,2,1944	107.0	108.0	108.0		931	3.7	1.0	17		108	0,8278		0,0,4139	no	missense	MYH13	NM_003802.2	23	0,2,6083	TT,TC,CC		0.0,0.0514,0.0164	probably-damaging	311/1939	10258071	2,12168	1946	4139	6085	10198796	SO:0001583	missense	8735	exon11			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.931G>A	17.37:g.10258071C>T	ENSP00000404570:p.Asp311Asn		10198796	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060602	0.93846	5.14E-4	0.0	ENSG00000006788	ENST00000252172	D	0.87412	-2.25	3.72	3.72	0.42706	Myosin head, motor domain (2);	.	.	.	.	D	0.93419	0.7901	M	0.84219	2.685	0.48632	D	0.999683	D	0.89917	1.0	D	0.79784	0.993	D	0.94690	0.7873	9	0.87932	D	0	.	16.0467	0.80725	0.0:1.0:0.0:0.0	.	311	Q9UKX3	MYH13_HUMAN	N	311	ENSP00000252172:D311N	ENSP00000252172:D311N	D	-	1	0	MYH13	10198796	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.492000	0.81482	2.080000	0.62538	0.655000	0.94253	GAC		0.458	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH13	8735	broad.mit.edu	37	17	10258451	10258451	+	Missense_Mutation	SNP	C	C	T	rs533758694		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10258451C>T	ENST00000418404.3	-	8	915	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	MYH13_ENST00000252172.4_Missense_Mutation_p.R251Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	251	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R251Q(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAAATGAATCCGAATGAACTT	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19639	0.001		0.0	False		,,,				2504	0.0				p.R251Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G752A	17						.						38.0	37.0	37.0					17																	10258451		1916	4160	6076	10199176	SO:0001583	missense	8735	exon9			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.752G>A	17.37:g.10258451C>T	ENSP00000404570:p.Arg251Gln		10199176	NM_003802	O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893142	0.91889	.	.	ENSG00000006788	ENST00000252172	T	0.71222	-0.55	3.49	3.49	0.39957	Myosin head, motor domain (3);	.	.	.	.	D	0.82440	0.5037	M	0.72624	2.21	0.39926	D	0.974224	D	0.89917	1.0	D	0.76071	0.987	D	0.86261	0.1655	9	0.87932	D	0	.	15.5302	0.75952	0.0:1.0:0.0:0.0	.	251	Q9UKX3	MYH13_HUMAN	Q	251	ENSP00000252172:R251Q	ENSP00000252172:R251Q	R	-	2	0	MYH13	10199176	0.971000	0.33674	0.998000	0.56505	0.981000	0.71138	5.746000	0.68681	1.956000	0.56807	0.561000	0.74099	CGG		0.433	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
MYH4	4622	broad.mit.edu	37	17	10369673	10369673	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10369673C>T	ENST00000255381.2	-	4	375	c.265G>A	c.(265-267)Gag>Aag	p.E89K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	89	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.E89K(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCATGTCCTCGATCTTGTCA	0.438																																					p.E89K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G265A	17						.						260.0	228.0	239.0					17																	10369673		2203	4300	6503	10310398	SO:0001583	missense	4622	exon4				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.265G>A	17.37:g.10369673C>T	ENSP00000255381:p.Glu89Lys		10310398	NM_017533		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	35	5.597314	0.96602	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	T	0.73681	-0.77	4.74	4.74	0.60224	Myosin head, motor domain (2);	0.000000	0.37761	U	0.001951	D	0.90532	0.7033	H	0.96015	3.755	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.93510	0.6852	10	0.87932	D	0	.	18.2597	0.90031	0.0:1.0:0.0:0.0	.	89	Q9Y623	MYH4_HUMAN	K	89	ENSP00000255381:E89K	ENSP00000431873:E89K	E	-	1	0	MYH2;MYH4	10310398	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	7.547000	0.82146	2.608000	0.88229	0.650000	0.86243	GAG		0.438	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH2	4620	broad.mit.edu	37	17	10430257	10430257	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10430257T>G	ENST00000245503.5	-	29	4372	c.3988A>C	c.(3988-3990)Aaa>Caa	p.K1330Q	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.K1330Q|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1330					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K1330Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATAATTACTTTTATCTCCTCT	0.363																																					p.K1330Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3988C	17						.						96.0	100.0	98.0					17																	10430257		2203	4300	6503	10370982	SO:0001583	missense	4620	exon29				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3988A>C	17.37:g.10430257T>G	ENSP00000245503:p.Lys1330Gln		10370982	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529882	0.85706	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.79845	-1.31;-1.31	4.93	4.93	0.64822	Myosin tail (1);	0.000000	0.41097	U	0.000946	D	0.90263	0.6955	M	0.88704	2.975	0.53005	D	0.999964	D	0.58970	0.984	D	0.65233	0.933	D	0.92249	0.5807	10	0.87932	D	0	.	14.7284	0.69362	0.0:0.0:0.0:1.0	.	1330	Q9UKX2	MYH2_HUMAN	Q	1330	ENSP00000245503:K1330Q;ENSP00000380367:K1330Q	ENSP00000245503:K1330Q	K	-	1	0	MYH2	10370982	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.120000	0.71596	2.052000	0.61016	0.460000	0.39030	AAA		0.363	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH2	4620	broad.mit.edu	37	17	10433205	10433205	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10433205C>A	ENST00000245503.5	-	23	3268	c.2884G>T	c.(2884-2886)Gac>Tac	p.D962Y	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D962Y|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	962					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.D962Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCTCAAGGTCATCAATGTCT	0.453																																					p.D962Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2884T	17						.						107.0	109.0	108.0					17																	10433205		2202	4280	6482	10373930	SO:0001583	missense	4620	exon23				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2884G>T	17.37:g.10433205C>A	ENSP00000245503:p.Asp962Tyr		10373930	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242631	0.79912	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.85629	-2.01;-2.01	5.15	5.15	0.70609	.	0.000000	0.41500	U	0.000880	D	0.94991	0.8379	H	0.96430	3.82	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	D	0.96328	0.9241	10	0.87932	D	0	.	18.795	0.91990	0.0:1.0:0.0:0.0	.	962	Q9UKX2	MYH2_HUMAN	Y	962	ENSP00000245503:D962Y;ENSP00000380367:D962Y	ENSP00000245503:D962Y	D	-	1	0	MYH2	10373930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.351000	0.79395	2.661000	0.90470	0.591000	0.81541	GAC		0.453	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH2	4620	broad.mit.edu	37	17	10451105	10451105	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10451105C>T	ENST00000245503.5	-	3	517	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	MYH2_ENST00000397183.2_Missense_Mutation_p.E45K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.E45K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	45					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E45K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACAAAGGATTCTTTGGGCTCC	0.532																																					p.E45K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	17						.						128.0	122.0	124.0					17																	10451105		2203	4300	6503	10391830	SO:0001583	missense	4620	exon3				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.133G>A	17.37:g.10451105C>T	ENSP00000245503:p.Glu45Lys		10391830	NM_001100112	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157501	0.78114	.	.	ENSG00000125414	ENST00000532288;ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805;ENST00000431502	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	5.67	4.68	0.58851	Myosin, N-terminal, SH3-like (1);	0.000000	0.40302	U	0.001127	D	0.92123	0.7503	M	0.88105	2.93	0.58432	D	0.999992	B;B	0.33000	0.393;0.155	B;P	0.45167	0.257;0.472	D	0.92188	0.5757	10	0.56958	D	0.05	.	15.5104	0.75776	0.0:0.8613:0.1387:0.0	.	45;45	Q567P6;Q9UKX2	.;MYH2_HUMAN	K	45	ENSP00000433944:E45K;ENSP00000245503:E45K;ENSP00000380367:E45K;ENSP00000399348:E45K;ENSP00000416072:E45K	ENSP00000245503:E45K	E	-	1	0	MYH2	10391830	0.995000	0.38212	1.000000	0.80357	0.974000	0.67602	3.288000	0.51739	1.354000	0.45846	0.650000	0.86243	GAA		0.532	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
MYH3	4621	broad.mit.edu	37	17	10533730	10533730	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10533730C>T	ENST00000583535.1	-	37	5419	c.5332G>A	c.(5332-5334)Gcc>Acc	p.A1778T	MYH3_ENST00000226209.7_Missense_Mutation_p.A1778T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1778					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.A1778T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCAAGGTGGGCGCTGGTGTCC	0.582																																					p.A1778T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5332A	17						.						120.0	114.0	117.0					17																	10533730		2203	4300	6503	10474455	SO:0001583	missense	4621	exon36				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5332G>A	17.37:g.10533730C>T	ENSP00000464317:p.Ala1778Thr		10474455	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941428	0.73557	.	.	ENSG00000109063	ENST00000226209	T	0.78816	-1.21	4.71	4.71	0.59529	Myosin tail (1);	.	.	.	.	D	0.84415	0.5467	M	0.93106	3.38	0.43708	D	0.996178	B	0.19583	0.037	B	0.26094	0.066	D	0.84542	0.0639	9	0.56958	D	0.05	.	18.2212	0.89902	0.0:1.0:0.0:0.0	.	1778	P11055	MYH3_HUMAN	T	1778	ENSP00000226209:A1778T	ENSP00000226209:A1778T	A	-	1	0	MYH3	10474455	0.992000	0.36948	1.000000	0.80357	0.996000	0.88848	2.480000	0.45206	2.596000	0.87737	0.650000	0.86243	GCC		0.582	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
MYH3	4621	broad.mit.edu	37	17	10535996	10535996	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10535996C>T	ENST00000583535.1	-	34	4840	c.4753G>A	c.(4753-4755)Gag>Aag	p.E1585K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1585K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1585					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.E1585K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCAGCTGCTCGATCTCTTCA	0.498																																					p.E1585K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4753A	17						.						247.0	236.0	239.0					17																	10535996		2203	4300	6503	10476721	SO:0001583	missense	4621	exon33				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4753G>A	17.37:g.10535996C>T	ENSP00000464317:p.Glu1585Lys		10476721	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436966	0.83885	.	.	ENSG00000109063	ENST00000226209	D	0.84516	-1.86	5.77	5.77	0.91146	Myosin tail (1);	.	.	.	.	D	0.89876	0.6842	M	0.87381	2.88	0.54753	D	0.999981	B	0.18310	0.027	B	0.32090	0.14	D	0.86965	0.2094	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	1585	P11055	MYH3_HUMAN	K	1585	ENSP00000226209:E1585K	ENSP00000226209:E1585K	E	-	1	0	MYH3	10476721	0.995000	0.38212	0.972000	0.41901	0.577000	0.36160	3.365000	0.52335	2.885000	0.99019	0.655000	0.94253	GAG		0.498	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
MYH3	4621	broad.mit.edu	37	17	10547679	10547679	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:10547679C>T	ENST00000583535.1	-	14	1486	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	MYH3_ENST00000226209.7_Missense_Mutation_p.E467K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	467	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.E467K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCAAAGATTTCAAAGCCTGCA	0.393																																					p.E467K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1399A	17						.						103.0	103.0	103.0					17																	10547679		2203	4300	6503	10488404	SO:0001583	missense	4621	exon13				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1399G>A	17.37:g.10547679C>T	ENSP00000464317:p.Glu467Lys		10488404	NM_002470	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	c	33	5.261354	0.95368	.	.	ENSG00000109063	ENST00000226209	T	0.80480	-1.38	4.66	4.66	0.58398	Myosin head, motor domain (3);	.	.	.	.	D	0.95711	0.8605	H	0.99985	5.24	0.51012	D	0.999907	D	0.89917	1.0	D	0.97110	1.0	D	0.98314	1.0525	9	0.87932	D	0	.	18.0963	0.89490	0.0:1.0:0.0:0.0	.	467	P11055	MYH3_HUMAN	K	467	ENSP00000226209:E467K	ENSP00000226209:E467K	E	-	1	0	MYH3	10488404	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.606000	0.82863	2.573000	0.86826	0.558000	0.71614	GAA		0.393	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
DNAH9	1770	broad.mit.edu	37	17	11554404	11554404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:11554404G>T	ENST00000262442.4	+	13	2184	c.2116G>T	c.(2116-2118)Gaa>Taa	p.E706*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E706*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	706	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E706*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTGCTGAAAGAAATGAGCTA	0.448																																					p.E706X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2116T	17						.						120.0	118.0	119.0					17																	11554404		2203	4300	6503	11495129	SO:0001587	stop_gained	1770	exon13			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2116G>T	17.37:g.11554404G>T	ENSP00000262442:p.Glu706*		11495129	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	41	8.654774	0.98901	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.53	4.54	0.55810	.	1.004200	0.08013	N	0.990607	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.896	0.79336	0.0:0.0:0.8636:0.1364	.	.	.	.	X	706	.	ENSP00000262442:E706X	E	+	1	0	DNAH9	11495129	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.815000	0.91973	1.416000	0.47057	0.655000	0.94253	GAA		0.448	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11671788	11671788	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:11671788G>T	ENST00000262442.4	+	37	7257	c.7189G>T	c.(7189-7191)Gag>Tag	p.E2397*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2397*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2397					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E2397*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTACCGGGCAGAGTTCAGCAA	0.493																																					p.E2397X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G7189T	17						.						119.0	111.0	114.0					17																	11671788		2203	4300	6503	11612513	SO:0001587	stop_gained	1770	exon37			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7189G>T	17.37:g.11671788G>T	ENSP00000262442:p.Glu2397*		11612513	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	48	14.823401	0.99811	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	5.17	5.17	0.71159	.	0.134646	0.48767	D	0.000174	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.661	0.91471	0.0:0.0:1.0:0.0	.	.	.	.	X	2397;2397;979	.	ENSP00000262442:E2397X	E	+	1	0	DNAH9	11612513	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.843000	0.86859	2.403000	0.81681	0.561000	0.74099	GAG		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11701105	11701105	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:11701105C>T	ENST00000262442.4	+	43	8483	c.8415C>T	c.(8413-8415)cgC>cgT	p.R2805R	DNAH9_ENST00000454412.2_Silent_p.R2805R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2805	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R2805R(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGCCATGCGCCATGTGTAAG	0.493																																					p.R2805R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8415T	17						.						203.0	146.0	165.0					17																	11701105		2203	4300	6503	11641830	SO:0001819	synonymous_variant	1770	exon43			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8415C>T	17.37:g.11701105C>T			11641830	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	CCDS11160.1																																																																																				0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11795142	11795142	+	Missense_Mutation	SNP	G	G	A	rs138741660		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:11795142G>A	ENST00000262442.4	+	58	11229	c.11161G>A	c.(11161-11163)Gaa>Aaa	p.E3721K	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.E33K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3721K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3721					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E3721K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTCCTGACGAAAGCCTCAG	0.527																																					p.E33K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97A	17						.	G	LYS/GLU,LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	134.0	132.0	132.0		11161,97	4.4	0.0	17	dbSNP_134	132	0,8600		0,0,4300	no	missense,missense	DNAH9	NM_001372.3,NM_004662.2	56,56	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	3721/4487,33/799	11795142	3,13003	2203	4300	6503	11735867	SO:0001583	missense	1770	exon4			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11161G>A	17.37:g.11795142G>A	ENSP00000262442:p.Glu3721Lys		11735867	NM_004662	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964487	0.34659	6.81E-4	0.0	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.53640	0.61;0.61;0.61	5.34	4.38	0.52667	.	0.046873	0.85682	D	0.000000	T	0.36608	0.0973	L	0.42686	1.345	0.80722	D	1	B;P	0.42357	0.387;0.777	B;B	0.34180	0.036;0.177	T	0.18681	-1.0329	10	0.30078	T	0.28	.	14.1094	0.65113	0.0717:0.0:0.9283:0.0	.	74;3721	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	K	3721;3721;2303;33;74	ENSP00000262442:E3721K;ENSP00000414874:E3721K;ENSP00000379323:E33K	ENSP00000262442:E3721K	E	+	1	0	DNAH9	11735867	1.000000	0.71417	0.039000	0.18376	0.001000	0.01503	6.392000	0.73213	1.496000	0.48567	-0.136000	0.14681	GAA		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	broad.mit.edu	37	17	11797742	11797742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:11797742C>T	ENST00000262442.4	+	59	11403	c.11335C>T	c.(11335-11337)Cga>Tga	p.R3779*	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Nonsense_Mutation_p.R91*|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R3779*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3779					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R3779*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTCCTGCTTCGATCTCCAGT	0.512																																					p.R91X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C271T	17						.						98.0	95.0	96.0					17																	11797742		2203	4300	6503	11738467	SO:0001587	stop_gained	1770	exon5			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11335C>T	17.37:g.11797742C>T	ENSP00000262442:p.Arg3779*		11738467	NM_004662	A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	53	20.696291	0.99933	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	.	.	.	5.03	4.04	0.47022	.	0.061205	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6805	0.62481	0.2936:0.7063:0.0:0.0	.	.	.	.	X	3779;3779;2361;91;132	.	ENSP00000262442:R3779X	R	+	1	2	DNAH9	11738467	0.599000	0.26891	0.922000	0.36590	0.880000	0.50808	1.230000	0.32612	1.085000	0.41206	0.655000	0.94253	CGA		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
ZNF18	7566	broad.mit.edu	37	17	11881641	11881641	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:11881641C>A	ENST00000322748.3	-	9	1887	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I	ZNF18_ENST00000580306.2_Missense_Mutation_p.R428I|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_Missense_Mutation_p.R427I	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	428					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GGTGTGAGTTCTTTGGTGAAA	0.507																																					p.R428I												.	.	0			c.G1283T	17						.						71.0	78.0	76.0					17																	11881641		2203	4300	6503	11822366	SO:0001583	missense	7566	exon9			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1283G>T	17.37:g.11881641C>A	ENSP00000315664:p.Arg428Ile		11822366	NM_144680	Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056838	0.93793	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.24908	1.83	5.84	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.103069	0.43579	D	0.000548	T	0.44095	0.1277	L	0.56396	1.775	0.45806	D	0.998685	D;D	0.76494	0.999;0.999	P;D	0.64776	0.884;0.929	T	0.31052	-0.9957	10	0.87932	D	0	-21.0149	13.0812	0.59115	0.0:0.9207:0.0:0.0793	.	427;428	P17022-2;P17022	.;ZNF18_HUMAN	I	428	ENSP00000315664:R428I	ENSP00000315664:R428I	R	-	2	0	ZNF18	11822366	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.078000	0.14761	2.763000	0.94921	0.557000	0.71058	AGA		0.507	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596	
YWHAE	7531	broad.mit.edu	37	17	1268292	1268292	+	Missense_Mutation	SNP	C	C	A	rs11552917		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:1268292C>A	ENST00000264335.8	-	2	392	c.125G>T	c.(124-126)aGa>aTa	p.R42I	YWHAE_ENST00000575977.1_Missense_Mutation_p.R42I|YWHAE_ENST00000571732.1_Missense_Mutation_p.R20I|YWHAE_ENST00000573026.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	42					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)	p.R42I(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TAGGAGGTTTCTTTCTTCAAC	0.408			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																														p.R42I			Dom	yes		17	17p13.3	7531	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G125T	17						.						122.0	115.0	117.0					17																	1268292		2203	4300	6503	1215042	SO:0001583	missense	7531	exon2			U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.125G>T	17.37:g.1268292C>A	ENSP00000264335:p.Arg42Ile		1215042	NM_006761	B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Missense_Mutation	SNP	ENST00000264335.8	37	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	C	34	5.302122	0.95601	.	.	ENSG00000108953	ENST00000264335;ENST00000414131	T	0.57752	0.38	5.28	5.28	0.74379	14-3-3 protein, conserved site (1);14-3-3 domain (4);	0.000000	0.85682	U	0.000000	T	0.80132	0.4567	H	0.96970	3.915	0.80722	D	1	D	0.61080	0.989	P	0.60682	0.878	D	0.87176	0.2224	10	0.87932	D	0	-5.8254	16.4418	0.83903	0.0:1.0:0.0:0.0	.	42	P62258	1433E_HUMAN	I	42;20	ENSP00000264335:R42I	ENSP00000264335:R42I	R	-	2	0	YWHAE	1215042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.771000	0.85420	2.469000	0.83416	0.557000	0.71058	AGA		0.408	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761	
MAP2K4	6416	broad.mit.edu	37	17	11998919	11998919	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:11998919G>A	ENST00000353533.5	+	4	484	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.E152K	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|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)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)|p.E141K(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GGATGAAAAAGAACAAAAACA	0.338			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																p.E141K			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	.	.	12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	ovary(4)|breast(4)|large_intestine(2)|biliary_tract(1)|pancreas(1)	c.G421A	17						.						149.0	141.0	144.0					17																	11998919		2203	4300	6503	11939644	SO:0001583	missense	6416	exon4			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.421G>A	17.37:g.11998919G>A	ENSP00000262445:p.Glu141Lys		11939644	NM_003010	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	36	5.683221	0.96774	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.64803	-0.12;-0.12	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68604	0.3019	N	0.20881	0.62	0.80722	D	1	D;P;P	0.65815	0.995;0.903;0.921	D;P;P	0.64237	0.923;0.541;0.671	T	0.71484	-0.4579	10	0.87932	D	0	.	19.185	0.93639	0.0:0.0:1.0:0.0	.	13;152;141	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	K	141;152;118;13	ENSP00000262445:E141K;ENSP00000410402:E152K	ENSP00000262445:E141K	E	+	1	0	MAP2K4	11939644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.835000	0.97688	0.591000	0.81541	GAA		0.338	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1		
TEKT3	64518	broad.mit.edu	37	17	15207441	15207441	+	Missense_Mutation	SNP	C	C	T	rs141487360		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:15207441C>T	ENST00000395930.1	-	9	1471	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	TEKT3_ENST00000338696.2_Missense_Mutation_p.D429N|TEKT3_ENST00000462175.1_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	429					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.D429N(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGGATGGTGTCGTCAACCTCG	0.522																																					p.D429N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1285A	17						.	C	ASN/ASP	0,4406		0,0,2203	137.0	104.0	115.0		1285	5.1	1.0	17	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	TEKT3	NM_031898.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	429/491	15207441	1,13005	2203	4300	6503	15148166	SO:0001583	missense	64518	exon9			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1285G>A	17.37:g.15207441C>T	ENSP00000379263:p.Asp429Asn		15148166	NM_031898	B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062775	0.55432	0.0	1.16E-4	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.02525	4.26;4.26	5.12	5.12	0.69794	.	0.095023	0.64402	D	0.000001	T	0.04770	0.0129	L	0.43554	1.36	0.44168	D	0.996976	B	0.19073	0.033	B	0.20955	0.032	T	0.46762	-0.9168	10	0.39692	T	0.17	-9.1355	18.9293	0.92558	0.0:1.0:0.0:0.0	.	429	Q9BXF9	TEKT3_HUMAN	N	429	ENSP00000379263:D429N;ENSP00000343995:D429N	ENSP00000343995:D429N	D	-	1	0	TEKT3	15148166	1.000000	0.71417	0.968000	0.41197	0.741000	0.42261	4.593000	0.61034	2.563000	0.86464	0.561000	0.74099	GAC		0.522	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898	
ZNF624	57547	broad.mit.edu	37	17	16527223	16527223	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:16527223T>C	ENST00000311331.7	-	6	1068	c.977A>G	c.(976-978)cAc>cGc	p.H326R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H326R(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCTCCAGTGTGGATTTTTTT	0.358																																					p.H326R	NSCLC(186;1023 2134 13330 38202 39800)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A977G	17						.						103.0	99.0	100.0					17																	16527223		2203	4300	6503	16467948	SO:0001583	missense	57547	exon6			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.977A>G	17.37:g.16527223T>C	ENSP00000310472:p.His326Arg		16467948	NM_020787	Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666119	0.47677	.	.	ENSG00000197566	ENST00000311331	D	0.88975	-2.45	2.79	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94394	0.8197	M	0.89785	3.06	0.36288	D	0.856198	D	0.76494	0.999	D	0.87578	0.998	D	0.95459	0.8541	9	0.87932	D	0	.	9.3786	0.38299	0.0:0.0:0.0:1.0	.	326	Q9P2J8	ZN624_HUMAN	R	326	ENSP00000310472:H326R	ENSP00000310472:H326R	H	-	2	0	ZNF624	16467948	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.242000	0.78210	1.532000	0.49169	0.460000	0.39030	CAC		0.358	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617	
CCDC144A	9720	broad.mit.edu	37	17	16665751	16665751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:16665751C>T	ENST00000360524.8	+	14	3867	c.3791C>T	c.(3790-3792)tCg>tTg	p.S1264L	RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.S1264L|CCDC144A_ENST00000399273.1_Missense_Mutation_p.S1264L|CCDC144A_ENST00000456009.1_Missense_Mutation_p.S1030L|CCDC144A_ENST00000443444.2_Missense_Mutation_p.S1264L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1264								p.S1264L(1)									ATAAAAACTTCGCAAGCCGAC	0.348																																					p.S1264L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3791T	17						.						4.0	5.0	5.0					17																	16665751		1646	3778	5424	16606476	SO:0001583	missense	9720	exon14			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3791C>T	17.37:g.16665751C>T	ENSP00000353717:p.Ser1264Leu		16606476	NM_014695	O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	CCDS45621.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.047|0.047	-1.262471|-1.262471	0.01445|0.01445	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000328495|ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	.|T;T;T;T	.|0.35789	.|1.29;1.29;1.29;1.29	1.84|1.84	0.815|0.815	0.18763|0.18763	.|.	.|.	.|.	.|.	.|.	T|T	0.19967|0.19967	0.0480|0.0480	L|L	0.31845|0.31845	0.965|0.965	0.09310|0.09310	N|N	1|1	.|P;B	.|0.38745	.|0.645;0.11	.|B;B	.|0.28709	.|0.093;0.038	T|T	0.09357|0.09357	-1.0678|-1.0678	5|9	.|0.35671	.|T	.|0.21	.|.	6.0189|6.0189	0.19618|0.19618	0.0:0.818:0.0:0.182|0.0:0.818:0.0:0.182	.|.	.|1030;1264	.|A2RUR9-3;A2RUR9	.|.;C144A_HUMAN	C|L	794|1264;1264;1264;1030	.|ENSP00000382215:S1264L;ENSP00000439262:S1264L;ENSP00000353717:S1264L;ENSP00000394201:S1030L	.|ENSP00000353717:S1264L	R|S	+|+	1|2	0|0	CCDC144A|CCDC144A	16606476|16606476	0.039000|0.039000	0.19947|0.19947	0.001000|0.001000	0.08648|0.08648	0.023000|0.023000	0.10783|0.10783	1.275000|1.275000	0.33144|0.33144	0.111000|0.111000	0.17947|0.17947	0.184000|0.184000	0.17185|0.17185	CGC|TCG		0.348	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1		
GID4	79018	broad.mit.edu	37	17	17957467	17957467	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:17957467C>T	ENST00000268719.4	+	3	698	c.525C>T	c.(523-525)ttC>ttT	p.F175F	GID4_ENST00000376345.3_Silent_p.F175F	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	175								p.F175F(1)									CAACCTTCTTCGAAGGAGAAA	0.363																																					p.F175F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C525T	17						.						105.0	100.0	102.0					17																	17957467		2203	4300	6503	17898192	SO:0001819	synonymous_variant	79018	exon3			AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"""vacuolar import and degradation 24"""		"""chromosome 17 open reading frame 39"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"""	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.525C>T	17.37:g.17957467C>T			17898192	NM_024052	Q8TEB5|Q9BW50	Silent	SNP	ENST00000268719.4	37	CCDS11190.1																																																																																				0.363	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132071.2	NM_024052	
MYO15A	51168	broad.mit.edu	37	17	18066609	18066609	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:18066609C>T	ENST00000205890.5	+	59	10002	c.9664C>T	c.(9664-9666)Cgc>Tgc	p.R3222C	MYO15A_ENST00000451725.2_Missense_Mutation_p.R114C|MYO15A_ENST00000418233.3_Missense_Mutation_p.R486C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3222	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R3222C(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCTTGAACGCCATCTCAA	0.552																																					p.R3222C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9664T	17						.						121.0	118.0	119.0					17																	18066609		1957	4143	6100	18007334	SO:0001583	missense	51168	exon58			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9664C>T	17.37:g.18066609C>T	ENSP00000205890:p.Arg3222Cys		18007334	NM_016239	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860996	0.71949	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000451725	D;D	0.97642	-2.4;-4.47	5.13	5.13	0.70059	Band 4.1 domain (1);FERM domain (1);	.	.	.	.	D	0.98068	0.9363	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.99;1.0;1.0;1.0	D;P;P;D;D;D	0.85130	0.943;0.8;0.696;0.997;0.951;0.965	D	0.98413	1.0573	9	0.72032	D	0.01	.	11.8699	0.52515	0.2994:0.7006:0.0:0.0	.	114;211;486;3222;144;229	B4DQJ3;B4DLV9;B4DFC7;Q9UKN7;Q7Z382;Q8TCK0	.;.;.;MYO15_HUMAN;.;.	C	3222;211;114	ENSP00000205890:R3222C;ENSP00000409098:R114C	ENSP00000205890:R3222C	R	+	1	0	MYO15A	18007334	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.238000	0.32707	2.397000	0.81536	0.555000	0.69702	CGC		0.552	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
TBC1D28	254272	broad.mit.edu	37	17	18541185	18541185	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:18541185G>A	ENST00000345096.4	-	8	1188	c.489C>T	c.(487-489)ttC>ttT	p.F163F	TBC1D28_ENST00000405044.1_Silent_p.F163F			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	163	Rab-GAP TBC.						Rab GTPase activator activity (GO:0005097)	p.F163F(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						ACTTGACTCCGAATCTTTGTA	0.542																																					p.F163F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C489T	17						.						56.0	62.0	60.0					17																	18541185		2076	4190	6266	18481910	SO:0001819	synonymous_variant	254272	exon9				CCDS42273.1	17p11.2	2008-10-27			ENSG00000189375	ENSG00000189375			26858	protein-coding gene	gene with protein product							Standard	NM_001039397		Approved	FLJ40244	uc002gud.2	Q2M2D7	OTTHUMG00000059054	ENST00000345096.4:c.489C>T	17.37:g.18541185G>A			18481910	NM_001039397	Q2M2E1	Silent	SNP	ENST00000345096.4	37	CCDS42273.1																																																																																				0.542	TBC1D28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130672.2	NM_001039397	
ALDH3A2	224	broad.mit.edu	37	17	19559758	19559758	+	Missense_Mutation	SNP	C	C	T	rs72547562		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:19559758C>T	ENST00000176643.6	+	4	997	c.551C>T	c.(550-552)aCg>aTg	p.T184M	ALDH3A2_ENST00000581518.1_Missense_Mutation_p.T184M|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.T184M|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.T184M|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.T184M			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	184			T -> M (in SLS; severe loss of activity). {ECO:0000269|PubMed:10577908}.|T -> R (in SLS; severe loss of activity). {ECO:0000269|PubMed:10577908}.		cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)	p.T184M(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					ATTTTCTATACGGGAAACACT	0.438																																					p.T184M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C551T	17	GRCh37	CM993307|CM993308	ALDH3A2	M	rs72547562	.	C	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	118.0	112.0	114.0		551,551	5.7	1.0	17	dbSNP_130	114	0,8600		0,0,4300	no	missense,missense	ALDH3A2	NM_000382.2,NM_001031806.1	81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	184/486,184/509	19559758	1,13005	2203	4300	6503	19500350	SO:0001583	missense	224	exon4			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.551C>T	17.37:g.19559758C>T	ENSP00000176643:p.Thr184Met		19500350	NM_000382	Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856175	0.91355	2.27E-4	0.0	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.84070	-1.8;-1.8;-1.8	5.71	5.71	0.89125	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.94781	0.8315	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96201	0.9145	10	0.87932	D	0	-19.7918	18.8519	0.92235	0.0:1.0:0.0:0.0	.	184;184	P51648;P51648-2	AL3A2_HUMAN;.	M	184	ENSP00000176643:T184M;ENSP00000378942:T184M;ENSP00000345774:T184M	ENSP00000176643:T184M	T	+	2	0	ALDH3A2	19500350	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	7.733000	0.84916	2.705000	0.92388	0.467000	0.42956	ACG		0.438	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1		
SMG6	23293	broad.mit.edu	37	17	2201187	2201187	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:2201187A>G	ENST00000263073.6	-	3	2060	c.2010T>C	c.(2008-2010)atT>atC	p.I670I	SMG6_ENST00000544865.1_Silent_p.I639I	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	670					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.I670I(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCTGTTCCGAATCTGTTCTG	0.418																																					p.I639I	Melanoma(59;28 1088 11621 25887 46638 50814)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1917C	17						.						123.0	117.0	119.0					17																	2201187		2203	4300	6503	2147937	SO:0001819	synonymous_variant	23293	exon3			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2010T>C	17.37:g.2201187A>G			2147937	NM_001170957	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																				0.418	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
ULK2	9706	broad.mit.edu	37	17	19683912	19683912	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:19683912A>C	ENST00000395544.4	-	25	3288	c.2789T>G	c.(2788-2790)tTc>tGc	p.F930C	ULK2_ENST00000361658.2_Missense_Mutation_p.F930C	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	930	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F930C(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGTGATGCAGAATTTATATCG	0.333																																					p.F930C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2789G	17						.						71.0	63.0	65.0					17																	19683912		2202	4299	6501	19624504	SO:0001583	missense	9706	exon25			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2789T>G	17.37:g.19683912A>C	ENSP00000378914:p.Phe930Cys		19624504	NM_001142610	A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.890643	0.72524	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.42513	0.97;0.97	6.02	6.02	0.97574	Serine/threonine-protein kinase, C-terminal (1);	0.179686	0.64402	D	0.000009	T	0.48390	0.1497	N	0.22421	0.69	0.41219	D	0.98649	D	0.69078	0.997	D	0.63113	0.911	T	0.45396	-0.9264	10	0.37606	T	0.19	-10.2696	15.7258	0.77756	1.0:0.0:0.0:0.0	.	930	Q8IYT8	ULK2_HUMAN	C	930	ENSP00000354877:F930C;ENSP00000378914:F930C	ENSP00000354877:F930C	F	-	2	0	ULK2	19624504	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.489000	0.66875	2.311000	0.77944	0.533000	0.62120	TTC		0.333	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683	
SPAG5	10615	broad.mit.edu	37	17	26905083	26905083	+	Missense_Mutation	SNP	C	C	T	rs374895799		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:26905083C>T	ENST00000321765.5	-	23	3787	c.3455G>A	c.(3454-3456)cGg>cAg	p.R1152Q	ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1152					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.R1152Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GTCAGAGCGCCGAAGGTTCTC	0.418																																					p.R1152Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3455A	17						.	C	GLN/ARG	0,4406		0,0,2203	108.0	105.0	106.0		3455	5.7	1.0	17		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPAG5	NM_006461.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1152/1194	26905083	1,13005	2203	4300	6503	23929210	SO:0001583	missense	10615	exon23			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3455G>A	17.37:g.26905083C>T	ENSP00000323300:p.Arg1152Gln		23929210	NM_006461	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	37	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.303325	0.81136	0.0	1.16E-4	ENSG00000076382	ENST00000321765	.	.	.	5.74	5.74	0.90152	.	0.000000	0.53938	D	0.000051	T	0.63212	0.2492	L	0.36672	1.1	0.32232	N	0.573885	D	0.89917	1.0	D	0.85130	0.997	T	0.66160	-0.5993	9	0.37606	T	0.19	-20.1783	15.4374	0.75157	0.0:1.0:0.0:0.0	.	1152	Q96R06	SPAG5_HUMAN	Q	1152	.	ENSP00000323300:R1152Q	R	-	2	0	SPAG5	23929210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.258000	0.43249	2.721000	0.93114	0.651000	0.88453	CGG		0.418	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
KIAA0100	9703	broad.mit.edu	37	17	26961746	26961746	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:26961746G>A	ENST00000528896.2	-	16	2933	c.2859C>T	c.(2857-2859)ctC>ctT	p.L953L	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.L810L|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.L810L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	953						extracellular region (GO:0005576)		p.L953L(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGTTGCCATAGAGACGACGGG	0.537																																					p.L953L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2859T	17						.						120.0	119.0	120.0					17																	26961746		2203	4300	6503	23985873	SO:0001819	synonymous_variant	9703	exon16			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2859C>T	17.37:g.26961746G>A			23985873	NM_014680	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	CCDS32595.1																																																																																				0.537	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680	
SUPT6H	6830	broad.mit.edu	37	17	27011613	27011613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:27011613C>T	ENST00000314616.6	+	18	2522	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.R747*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	747	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R747*(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGCCTGTAGTCGAAAGCTCTA	0.478																																					p.R747X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2239T	17						.						153.0	128.0	137.0					17																	27011613		2203	4300	6503	24035740	SO:0001587	stop_gained	6830	exon18			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2239C>T	17.37:g.27011613C>T	ENSP00000319104:p.Arg747*		24035740	NM_003170	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	41	9.012062	0.99035	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.8	4.8	0.61643	.	0.068621	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4312	13.2928	0.60280	0.2781:0.7219:0.0:0.0	.	.	.	.	X	747	.	ENSP00000319104:R747X	R	+	1	2	SUPT6H	24035740	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.255000	0.32909	2.749000	0.94314	0.655000	0.94253	CGA		0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
NUFIP2	57532	broad.mit.edu	37	17	27614198	27614198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:27614198G>A	ENST00000225388.4	-	2	872	c.814C>T	c.(814-816)Cga>Tga	p.R272*	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	272						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R272*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CCATCTACTCGATTTCCCTTT	0.443																																					p.R272X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C814T	17						.						134.0	132.0	133.0					17																	27614198		2203	4300	6503	24638324	SO:0001587	stop_gained	57532	exon2			AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.814C>T	17.37:g.27614198G>A	ENSP00000225388:p.Arg272*		24638324	NM_020772	A1L3A6|Q9P2M5	Nonsense_Mutation	SNP	ENST00000225388.4	37	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209584	0.79240	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.11	4.06	0.47325	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5405	9.0841	0.36570	0.0665:0.0:0.6726:0.2609	.	.	.	.	X	272	.	ENSP00000225388:R272X	R	-	1	2	NUFIP2	24638324	0.031000	0.19500	0.996000	0.52242	0.993000	0.82548	0.942000	0.29017	1.590000	0.49995	0.655000	0.94253	CGA		0.443	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772	
SSH2	85464	broad.mit.edu	37	17	27977745	27977745	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:27977745G>A	ENST00000269033.3	-	12	1223	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R385W	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	358	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R358W(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATATACCCGAATGTTATGA	0.413																																					p.R358W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1072T	17						.						195.0	173.0	181.0					17																	27977745		2203	4300	6503	25001871	SO:0001583	missense	85464	exon12			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1072C>T	17.37:g.27977745G>A	ENSP00000269033:p.Arg358Trp		25001871	NM_033389	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010298	0.93346	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	D;D	0.85702	-2.02;-2.02	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.91774	0.7398	M	0.76433	2.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.998;1.0	D	0.92119	0.5702	10	0.87932	D	0	-12.8371	14.9098	0.70746	0.0:0.0:0.8568:0.1432	.	385;358;358	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	W	358;385;358	ENSP00000269033:R358W;ENSP00000444743:R385W	ENSP00000269033:R358W	R	-	1	2	SSH2	25001871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.886000	0.56190	2.832000	0.97577	0.655000	0.94253	CGG		0.413	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389	
SLC6A4	6532	broad.mit.edu	37	17	28545862	28545862	+	Missense_Mutation	SNP	C	C	T	rs147306146		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:28545862C>T	ENST00000401766.2	-	3	943	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	SLC6A4_ENST00000261707.3_Missense_Mutation_p.R144Q			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	144					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.R144Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GCATCCATTTCGGTGGTACTG	0.517																																					p.R144Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G431A	17						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	128.0	127.0	127.0		431	5.7	1.0	17	dbSNP_134	127	0,8600		0,0,4300	no	missense	SLC6A4	NM_001045.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	144/631	28545862	1,13005	2203	4300	6503	25569988	SO:0001583	missense	6532	exon4			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.431G>A	17.37:g.28545862C>T	ENSP00000385822:p.Arg144Gln		25569988	NM_001045	Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324608	0.95708	2.27E-4	0.0	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.76186	-1.0;-1.0	5.71	5.71	0.89125	.	0.052288	0.85682	D	0.000000	D	0.83566	0.5282	L	0.51853	1.615	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.83956	0.0319	10	0.62326	D	0.03	.	18.8371	0.92167	0.0:1.0:0.0:0.0	.	144	P31645	SC6A4_HUMAN	Q	186;144;144	ENSP00000385822:R144Q;ENSP00000261707:R144Q	ENSP00000261707:R144Q	R	-	2	0	SLC6A4	25569988	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	6.063000	0.71162	2.689000	0.91719	0.655000	0.94253	CGA		0.517	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045	
SLC6A4	6532	broad.mit.edu	37	17	28548965	28548965	+	Silent	SNP	C	C	T	rs114814153	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:28548965C>T	ENST00000401766.2	-	2	524	c.12G>A	c.(10-12)acG>acA	p.T4T	SLC6A4_ENST00000261707.3_Silent_p.T4T			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	4					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.T4T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AATTCAAGGGCGTCGTCTCCA	0.498													c|||	3	0.000599042	0.0023	0.0	5008	,	,		19472	0.0		0.0	False		,,,				2504	0.0				p.T4T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12A	17						.	T		7,4399	12.9+/-30.5	0,7,2196	59.0	53.0	55.0		12	-11.9	0.0	17	dbSNP_132	55	0,8600		0,0,4300	no	coding-synonymous	SLC6A4	NM_001045.4		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		4/631	28548965	7,12999	2203	4300	6503	25573091	SO:0001819	synonymous_variant	6532	exon3			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.12G>A	17.37:g.28548965C>T			25573091	NM_001045	Q5EE02	Silent	SNP	ENST00000401766.2	37	CCDS11256.1																																																																																				0.498	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045	
CPD	1362	broad.mit.edu	37	17	28789000	28789000	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:28789000G>T	ENST00000225719.4	+	19	3812	c.3736G>T	c.(3736-3738)Ggt>Tgt	p.G1246C	CPD_ENST00000543464.2_Missense_Mutation_p.G999C	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1246	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.G1246C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AAAAGAGGGAGGTTATTTCCA	0.393																																					p.G999C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2995T	17						.						98.0	96.0	97.0					17																	28789000		2203	4300	6503	25813126	SO:0001583	missense	1362	exon19			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3736G>T	17.37:g.28789000G>T	ENSP00000225719:p.Gly1246Cys		25813126	NM_001199775	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840263	0.91117	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	D;D	0.97279	-4.32;-4.32	5.68	5.68	0.88126	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.99517	1.0957	10	0.87932	D	0	-1.106	18.7896	0.91968	0.0:0.0:1.0:0.0	.	999;1246	F5GZH6;O75976	.;CBPD_HUMAN	C	1246;999	ENSP00000225719:G1246C;ENSP00000444443:G999C	ENSP00000225719:G1246C	G	+	1	0	CPD	25813126	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.852000	0.92215	2.678000	0.91216	0.650000	0.86243	GGT		0.393	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
ATAD5	79915	broad.mit.edu	37	17	29170972	29170972	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:29170972G>A	ENST00000321990.4	+	5	2661	c.2283G>A	c.(2281-2283)aaG>aaA	p.K761K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	761					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.K761K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTGCTTTAAAGCATCCAGAGA	0.264																																					p.K761K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2283A	17						.						56.0	62.0	60.0					17																	29170972		2202	4289	6491	26195098	SO:0001819	synonymous_variant	79915	exon5				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2283G>A	17.37:g.29170972G>A			26195098	NM_024857	Q05DH0|Q69YR6|Q9H9I1	Silent	SNP	ENST00000321990.4	37	CCDS11260.1																																																																																				0.264	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857	
RNF135	84282	broad.mit.edu	37	17	29325767	29325767	+	Missense_Mutation	SNP	G	G	A	rs121918162	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:29325767G>A	ENST00000328381.5	+	5	1730	c.857G>A	c.(856-858)cGc>cAc	p.R286H	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	286	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		R -> H (in MMFD; an individual with overgrowth, learning disability and dysmorphic features). {ECO:0000269|PubMed:17632510}.		innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R286H(1)|p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GTGTCTCACCGCCCACAACCC	0.517																																					p.R286H												.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|central_nervous_system(1)	c.G857A	17	GRCh37	CM073307	RNF135	M	rs121918162	.	G	,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	87.0	82.0	84.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,857,	-10.2	0.0	17	dbSNP_133	84	3,8597	3.0+/-9.4	0,3,4297	yes	utr-3,missense,utr-3	RNF135	NM_001184992.1,NM_032322.3,NM_197939.1	,29,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	,benign,	,286/433,	29325767	4,13002	2203	4300	6503	26349893	SO:0001583	missense	84282	exon5			AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.857G>A	17.37:g.29325767G>A	ENSP00000328340:p.Arg286His		26349893	NM_032322	A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	G	7.982	0.751296	0.15778	2.27E-4	3.49E-4	ENSG00000181481	ENST00000328381;ENST00000535605	T	0.61158	0.13	5.11	-10.2	0.00374	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	2.906010	0.00904	N	0.002381	T	0.23727	0.0574	N	0.04132	-0.27	0.09310	A	8.9593e-08	B	0.09022	0.002	B	0.04013	0.001	T	0.27640	-1.0068	9	0.12430	T	0.62	8.6004	1.3795	0.02228	0.3388:0.1559:0.0974:0.4079	.	286	Q8IUD6	RN135_HUMAN	H	286;105	ENSP00000328340:R286H	ENSP00000328340:R286H	R	+	2	0	RNF135	26349893	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.386000	0.02537	-2.729000	0.00385	0.655000	0.94253	CGC		0.517	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322	
NF1	4763	broad.mit.edu	37	17	29579981	29579981	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:29579981A>C	ENST00000358273.4	+	31	4519	c.4136A>C	c.(4135-4137)aAa>aCa	p.K1379T	NF1_ENST00000356175.3_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1379	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.K1379T(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTACTGAATAAAGCTACAGTA	0.353			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.K1379T		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|large_intestine(2)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	c.A4136C	17						.						92.0	79.0	83.0					17																	29579981		1845	4095	5940	26604107	SO:0001583	missense	4763	exon31	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4136A>C	17.37:g.29579981A>C	ENSP00000351015:p.Lys1379Thr		26604107	NM_001042492	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361749	0.61403	.	.	ENSG00000196712	ENST00000358273	T	0.79845	-1.31	5.92	4.84	0.62591	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (4);	0.047848	0.85682	N	0.000000	D	0.84768	0.5545	L	0.50333	1.59	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.80656	-0.1285	10	0.13470	T	0.59	.	13.335	0.60512	0.868:0.132:0.0:0.0	.	1379	P21359	NF1_HUMAN	T	1379	ENSP00000351015:K1379T	ENSP00000351015:K1379T	K	+	2	0	NF1	26604107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.109000	0.77062	1.050000	0.40346	0.533000	0.62120	AAA		0.353	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
NF1	4763	broad.mit.edu	37	17	29701167	29701167	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:29701167C>T	ENST00000358273.4	+	58	8897	c.8514C>T	c.(8512-8514)atC>atT	p.I2838I	NF1_ENST00000356175.3_Silent_p.I2817I|NF1_ENST00000444181.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2838					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.I2838I(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTAAGAAGATCGTGTGAAGCT	0.478			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.I2817I		yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.	13	Whole gene deletion(8)|Unknown(3)|Substitution - coding silent(2)	soft_tissue(7)|large_intestine(2)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	c.C8451T	17						.						98.0	94.0	96.0					17																	29701167		2203	4300	6503	26725293	SO:0001819	synonymous_variant	4763	exon57	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8514C>T	17.37:g.29701167C>T			26725293	NM_000267	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																				0.478	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
RHOT1	55288	broad.mit.edu	37	17	30534039	30534039	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:30534039G>A	ENST00000333942.6	+	17	1766	c.1527G>A	c.(1525-1527)agG>agA	p.R509R	RHOT1_ENST00000581094.1_Silent_p.R509R|RHOT1_ENST00000354266.3_Silent_p.R488R|RHOT1_ENST00000394692.2_Silent_p.R509R|RHOT1_ENST00000583994.1_Silent_p.R382R|RHOT1_ENST00000545287.2_Silent_p.R509R|RHOT1_ENST00000358365.3_Silent_p.R509R	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	509	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R509R(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				ACTGTGCCAGGATTTTTAAGG	0.373																																					p.R509R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1527A	17						.						185.0	173.0	177.0					17																	30534039		2203	4300	6503	27558152	SO:0001819	synonymous_variant	55288	exon17			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.1527G>A	17.37:g.30534039G>A			27558152	NM_001033566	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Silent	SNP	ENST00000333942.6	37	CCDS32612.1																																																																																				0.373	RHOT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000447097.1	NM_018307	
PSMD11	5717	broad.mit.edu	37	17	30791108	30791108	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:30791108G>T	ENST00000261712.3	+	4	623	c.360G>T	c.(358-360)gaG>gaT	p.E120D	Y_RNA_ENST00000365230.1_RNA|PSMD11_ENST00000457654.2_Missense_Mutation_p.E120D	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.E120D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CCAAGTCAGAGAAAAGAACTT	0.428																																					p.E120D	Ovarian(130;1038 1716 9294 11987 19279)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G360T	17						.						241.0	217.0	225.0					17																	30791108		2203	4300	6503	27815221	SO:0001583	missense	5717	exon4			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.360G>T	17.37:g.30791108G>T	ENSP00000261712:p.Glu120Asp		27815221	NM_002815	A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	CCDS11272.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563873	0.65651	.	.	ENSG00000108671	ENST00000261712	T	0.45668	0.89	5.61	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.91872	3.25	0.58432	D	0.999999	B;B	0.32350	0.366;0.203	B;B	0.33799	0.17;0.034	T	0.58070	-0.7701	10	0.66056	D	0.02	-0.0998	8.2986	0.32001	0.1864:0.0:0.8136:0.0	.	120;120	B4DTS5;O00231	.;PSD11_HUMAN	D	120	ENSP00000261712:E120D	ENSP00000261712:E120D	E	+	3	2	PSMD11	27815221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.759000	0.55227	1.460000	0.47911	0.650000	0.86243	GAG		0.428	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2	NM_002815	
OR1G1	8390	broad.mit.edu	37	17	3030180	3030180	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:3030180G>A	ENST00000328890.2	-	1	695	c.666C>T	c.(664-666)ttC>ttT	p.F222F		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	222					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F222F(1)		kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GGATGGTCGAGAAAACGTTCG	0.507																																					p.F222F	Colon(127;1481 1654 8243 19426 50557)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C666T	17						.						92.0	89.0	90.0					17																	3030180		2203	4300	6503	2976930	SO:0001819	synonymous_variant	8390	exon1			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.666C>T	17.37:g.3030180G>A			2976930	NM_003555	Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	ENST00000328890.2	37	CCDS11020.1																																																																																				0.507	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2		
MYO1D	4642	broad.mit.edu	37	17	31039083	31039083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:31039083G>A	ENST00000318217.5	-	16	2348	c.2044C>T	c.(2044-2046)Cga>Tga	p.R682*	MYO1D_ENST00000394649.4_Nonsense_Mutation_p.R594*|MYO1D_ENST00000579584.1_Nonsense_Mutation_p.R682*	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	682	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R682*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGGGGTGTTCGAATGAAAATT	0.383																																					p.R682X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2044T	17						.						216.0	211.0	213.0					17																	31039083		2203	4300	6503	28063196	SO:0001587	stop_gained	4642	exon16			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2044C>T	17.37:g.31039083G>A	ENSP00000324527:p.Arg682*		28063196	NM_015194	A6H8V3|Q8NHP9	Nonsense_Mutation	SNP	ENST00000318217.5	37	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	G	43	10.107590	0.99338	.	.	ENSG00000176658	ENST00000318217	.	.	.	5.09	4.11	0.48088	.	0.000000	0.35378	U	0.003254	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7413	0.57255	0.0:0.0:0.8347:0.1653	.	.	.	.	X	682	.	ENSP00000324527:R682X	R	-	1	2	MYO1D	28063196	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.724000	0.84798	1.350000	0.45770	0.655000	0.94253	CGA		0.383	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1		
TMEM132E	124842	broad.mit.edu	37	17	32954043	32954043	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:32954043C>T	ENST00000321639.5	+	3	1023	c.695C>T	c.(694-696)cCc>cTc	p.P232L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	232						integral component of membrane (GO:0016021)		p.P232L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCCTCCTCGCCCTCCAGCCCC	0.597																																					p.P232L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C695T	17						.						62.0	61.0	61.0					17																	32954043		2203	4300	6503	29978156	SO:0001583	missense	124842	exon3			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.695C>T	17.37:g.32954043C>T	ENSP00000316532:p.Pro232Leu		29978156	NM_207313	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106879	0.37145	.	.	ENSG00000181291	ENST00000321639	T	0.14391	2.51	4.82	4.82	0.62117	.	0.598309	0.14327	N	0.326629	T	0.09598	0.0236	N	0.22421	0.69	0.20307	N	0.999914	B	0.11235	0.004	B	0.17433	0.018	T	0.25882	-1.0119	10	0.08381	T	0.77	-8.9812	13.2774	0.60194	0.0:1.0:0.0:0.0	.	232	Q6IEE7	T132E_HUMAN	L	232	ENSP00000316532:P232L	ENSP00000316532:P232L	P	+	2	0	TMEM132E	29978156	0.697000	0.27767	0.501000	0.27601	0.769000	0.43574	3.215000	0.51169	2.484000	0.83849	0.442000	0.29010	CCC		0.597	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313	
LIG3	3980	broad.mit.edu	37	17	33323654	33323654	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:33323654A>G	ENST00000378526.4	+	11	1938	c.1805A>G	c.(1804-1806)gAt>gGt	p.D602G	LIG3_ENST00000262327.5_Missense_Mutation_p.D602G	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	602					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.D602G(1)|p.D515G(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TACTTTAATGATGTCAGCTTG	0.438								Other BER factors																													p.D602G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1805G	17						.						226.0	193.0	204.0					17																	33323654		2203	4300	6503	30347767	SO:0001583	missense	3980	exon11				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1805A>G	17.37:g.33323654A>G	ENSP00000367787:p.Asp602Gly		30347767	NM_013975	Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	A	5.112	0.206318	0.09704	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.79033	-1.23;-1.23	5.47	5.47	0.80525	DNA ligase, ATP-dependent, central (2);	0.323539	0.36303	N	0.002662	T	0.44973	0.1319	N	0.01209	-0.955	0.52501	D	0.999951	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52472	-0.8571	10	0.02654	T	1	-11.2127	9.5234	0.39149	0.9213:0.0:0.0787:0.0	.	602;602	P49916;E5KLB6	DNLI3_HUMAN;.	G	602	ENSP00000367787:D602G;ENSP00000262327:D602G	ENSP00000262327:D602G	D	+	2	0	LIG3	30347767	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.858000	0.69532	2.202000	0.70862	0.533000	0.62120	GAT		0.438	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975	
RFFL	117584	broad.mit.edu	37	17	33339131	33339131	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:33339131A>G	ENST00000315249.7	-	7	1170	c.948T>C	c.(946-948)tgT>tgC	p.C316C	RFFL_ENST00000584655.1_Silent_p.C280C|RFFL_ENST00000268850.7_Silent_p.C280C|RFFL_ENST00000394597.2_Silent_p.C316C|RFFL_ENST00000415395.2_Silent_p.C316C|RFFL_ENST00000378516.2_Silent_p.C308C|RFFL_ENST00000447669.2_Silent_p.C316C|RP5-837J1.2_ENST00000578488.1_RNA|RAD51L3-RFFL_ENST00000593039.1_Silent_p.C225C|RFFL_ENST00000413582.2_Silent_p.C308C					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase									p.C316C(1)		kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGCAGATCTTACACAGGTTCT	0.493																																					p.C316C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T948C	17						.						138.0	104.0	115.0					17																	33339131		2203	4300	6503	30363244	SO:0001819	synonymous_variant	117584	exon7			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.948T>C	17.37:g.33339131A>G			30363244	NM_001017368		Silent	SNP	ENST00000315249.7	37	CCDS11286.1																																																																																				0.493	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178	
SLFN5	162394	broad.mit.edu	37	17	33585842	33585842	+	Nonsense_Mutation	SNP	C	C	T	rs147085757		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:33585842C>T	ENST00000299977.4	+	2	281	c.133C>T	c.(133-135)Cga>Tga	p.R45*	SLFN5_ENST00000542451.1_Nonsense_Mutation_p.R45*|SLFN5_ENST00000592325.1_Nonsense_Mutation_p.R45*	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	45					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R45*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AATCATCCTGCGAGCAGTATG	0.493																																					p.R45X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C133T	17						.	C	stop/ARG	0,4406		0,0,2203	93.0	91.0	92.0		133	-1.4	0.0	17	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SLFN5	NM_144975.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		45/892	33585842	1,13005	2203	4300	6503	30609955	SO:0001587	stop_gained	162394	exon2			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.133C>T	17.37:g.33585842C>T	ENSP00000299977:p.Arg45*		30609955	NM_144975	Q08AF2|Q8WU54|Q96A82	Nonsense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747543	0.69533	0.0	1.16E-4	ENSG00000166750	ENST00000299977;ENST00000542451	.	.	.	3.7	-1.38	0.09027	.	0.857177	0.09515	N	0.791776	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	5.0086	0.14300	0.5708:0.3165:0.0:0.1126	.	.	.	.	X	45	.	ENSP00000299977:R45X	R	+	1	2	SLFN5	30609955	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-1.456000	0.02377	0.007000	0.14760	0.655000	0.94253	CGA		0.493	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975	
SLFN5	162394	broad.mit.edu	37	17	33586247	33586247	+	Missense_Mutation	SNP	C	C	T	rs139273106		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:33586247C>T	ENST00000299977.4	+	2	686	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	SLFN5_ENST00000542451.1_Missense_Mutation_p.R180W|SLFN5_ENST00000592325.1_Missense_Mutation_p.R180W	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	180					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R180W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGATAGAAAGCGGCTTCAGTA	0.403																																					p.R180W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C538T	17						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	129.0	130.0		538	1.4	0.1	17	dbSNP_134	130	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SLFN5	NM_144975.3	101	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	180/892	33586247	4,13002	2203	4300	6503	30610360	SO:0001583	missense	162394	exon2			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.538C>T	17.37:g.33586247C>T	ENSP00000299977:p.Arg180Trp		30610360	NM_144975	Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134006	0.37630	2.27E-4	3.49E-4	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.06933	4.51;3.24	3.45	1.35	0.21983	.	0.591152	0.12919	N	0.428314	T	0.04861	0.0131	N	0.19112	0.55	0.09310	N	1	B;B;B	0.18461	0.003;0.003;0.028	B;B;B	0.17722	0.001;0.001;0.019	T	0.37314	-0.9711	10	0.42905	T	0.14	.	3.4539	0.07509	0.2547:0.6084:0.0:0.1369	.	180;180;180	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	W	180	ENSP00000299977:R180W;ENSP00000440537:R180W	ENSP00000299977:R180W	R	+	1	2	SLFN5	30610360	0.000000	0.05858	0.102000	0.21198	0.339000	0.28857	-3.710000	0.00387	0.733000	0.32492	0.563000	0.77884	CGG		0.403	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975	
SLFN11	91607	broad.mit.edu	37	17	33680076	33680076	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:33680076C>T	ENST00000394566.1	-	7	2277	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	SLFN11_ENST00000308377.4_Missense_Mutation_p.E669K	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	669					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.E669K(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCTGAGCTTCGTCAATGACG	0.428																																					p.E669K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2005A	17						.						131.0	128.0	129.0					17																	33680076		2203	4300	6503	30704189	SO:0001583	missense	91607	exon6			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2005G>A	17.37:g.33680076C>T	ENSP00000378067:p.Glu669Lys		30704189	NM_001104589	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	19.06	3.754729	0.69648	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.78924	-1.22;-1.22	4.0	4.0	0.46444	Domain of unknown function DUF2075 (1);	0.000000	0.49916	D	0.000124	D	0.89234	0.6657	M	0.91300	3.195	0.30989	N	0.7216	D	0.89917	1.0	D	0.83275	0.996	D	0.88520	0.3095	10	0.87932	D	0	.	11.8025	0.52135	0.0:1.0:0.0:0.0	.	669	Q7Z7L1	SLN11_HUMAN	K	669	ENSP00000312402:E669K;ENSP00000378067:E669K	ENSP00000312402:E669K	E	-	1	0	SLFN11	30704189	1.000000	0.71417	0.810000	0.32431	0.518000	0.34316	4.843000	0.62838	2.215000	0.71742	0.655000	0.94253	GAA		0.428	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270	
SLFN12	55106	broad.mit.edu	37	17	33749528	33749528	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:33749528C>T	ENST00000394562.1	-	4	1043	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	SLFN12_ENST00000304905.5_Missense_Mutation_p.E174K|SLFN12_ENST00000452764.3_Missense_Mutation_p.E174K|SLFN12_ENST00000460530.1_5'Flank			Q8IYM2	SLN12_HUMAN	schlafen family member 12	174							ATP binding (GO:0005524)	p.E174K(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGTTATTTTCTTCTTGTATA	0.388																																					p.E174K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G520A	17						.						63.0	67.0	65.0					17																	33749528		2189	4292	6481	30773641	SO:0001583	missense	55106	exon2			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.520G>A	17.37:g.33749528C>T	ENSP00000378063:p.Glu174Lys		30773641	NM_018042	A8K711|Q9NP47	Missense_Mutation	SNP	ENST00000394562.1	37	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	c	16.39	3.108949	0.56398	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.04234	3.67;3.67;3.67	3.38	1.17	0.20885	.	.	.	.	.	T	0.10508	0.0257	M	0.71581	2.175	0.09310	N	1	D	0.56968	0.978	P	0.49708	0.62	T	0.15780	-1.0425	9	0.45353	T	0.12	.	9.433	0.38622	0.0:0.5904:0.4096:0.0	.	174	Q8IYM2	SLN12_HUMAN	K	174	ENSP00000378063:E174K;ENSP00000302077:E174K;ENSP00000394903:E174K	ENSP00000302077:E174K	E	-	1	0	SLFN12	30773641	0.002000	0.14202	0.002000	0.10522	0.272000	0.26649	0.671000	0.25172	0.191000	0.20236	0.436000	0.28706	GAA		0.388	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042	
CCL14	6358	broad.mit.edu	37	17	34313637	34313637	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:34313637C>T	ENST00000394509.4	-	1	157	c.49G>A	c.(49-51)Gcc>Acc	p.A17T	CTB-186H2.3_ENST00000591669.1_Missense_Mutation_p.A28V|CCL14_ENST00000435911.2_Missense_Mutation_p.A17T|CCL14_ENST00000536149.1_Missense_Mutation_p.A17T|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000480944.2_5'UTR|CCL14_ENST00000586216.1_Missense_Mutation_p.A17T|CTB-186H2.3_ENST00000593057.1_Intron			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	17					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)		p.A17T(1)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCCCTAGGGCGATGGTGATG	0.567																																					p.A17T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G49A	17						.						207.0	147.0	168.0					17																	34313637		2203	4300	6503	31337750	SO:0001583	missense	6359	exon1			Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.49G>A	17.37:g.34313637C>T	ENSP00000378017:p.Ala17Thr		31337750	NM_032962	E1P649|E1P650|Q13954	Missense_Mutation	SNP	ENST00000394509.4	37	CCDS32624.1	.	.	.	.	.	.	.	.	.	.	C	9.172	1.021319	0.19433	.	.	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.04194	4.14;3.68;3.68	3.92	-7.45	0.01374	.	0.187779	0.19912	N	0.103280	T	0.02380	0.0073	.	.	.	0.09310	N	1	B;B	0.12630	0.006;0.005	B;B	0.06405	0.002;0.001	T	0.33523	-0.9865	9	0.29301	T	0.29	.	7.355	0.26714	0.1413:0.1908:0.0:0.6679	.	17;17	Q16627;Q16627-2	CCL14_HUMAN;.	T	17	ENSP00000378017:A17T;ENSP00000441771:A17T;ENSP00000409197:A17T	ENSP00000378017:A17T	A	-	1	0	CCL14	31337750	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.328000	0.02680	-1.310000	0.02312	-1.008000	0.02478	GCC		0.567	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962	
GGNBP2	79893	broad.mit.edu	37	17	34935764	34935764	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:34935764G>A	ENST00000304718.4	+	8	1251	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	312					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.R312Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGACTGCATCGAATCTGGCAG	0.438																																					p.R312Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G935A	17						.						184.0	185.0	185.0					17																	34935764		2203	4300	6503	32009877	SO:0001583	missense	79893	exon8			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.935G>A	17.37:g.34935764G>A	ENSP00000307617:p.Arg312Gln		32009877	NM_024835	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839717	0.91117	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.55	4.57	0.56435	.	0.059646	0.64402	D	0.000004	T	0.76997	0.4066	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.966	T	0.79422	-0.1810	9	0.72032	D	0.01	-6.118	14.8003	0.69909	0.0706:0.0:0.9294:0.0	.	312;312;312	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	Q	312	.	ENSP00000307617:R312Q	R	+	2	0	GGNBP2	32009877	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.060000	0.71141	2.615000	0.88500	0.460000	0.39030	CGA		0.438	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	
GGNBP2	79893	broad.mit.edu	37	17	34937887	34937887	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:34937887G>T	ENST00000304718.4	+	9	1450	c.1134G>T	c.(1132-1134)aaG>aaT	p.K378N		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	378					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.K378N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAAAACGGAAGAATAGACGAA	0.363																																					p.K378N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1134T	17						.						136.0	125.0	128.0					17																	34937887		2203	4300	6503	32012000	SO:0001583	missense	79893	exon9			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1134G>T	17.37:g.34937887G>T	ENSP00000307617:p.Lys378Asn		32012000	NM_024835	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722289	0.68959	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.57	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	L	0.34521	1.04	0.80722	D	1	P;D;D	0.76494	0.946;0.999;0.99	P;D;P	0.83275	0.649;0.996;0.842	T	0.61402	-0.7070	9	0.42905	T	0.14	-12.7772	11.7348	0.51759	0.1421:0.0:0.8579:0.0	.	378;378;378	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	N	378	.	ENSP00000307617:K378N	K	+	3	2	GGNBP2	32012000	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.802000	0.62539	0.719000	0.32188	0.561000	0.74099	AAG		0.363	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	
AATF	26574	broad.mit.edu	37	17	35343916	35343916	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:35343916G>A	ENST00000225402.5	+	5	1084	c.833G>A	c.(832-834)aGt>aAt	p.S278N		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	278	POLR2J binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S278N(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TATTTCCCAGGTCACAAGGCA	0.428																																					p.S278N	NSCLC(49;901 1159 19183 41572 46244)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833A	17						.						158.0	145.0	150.0					17																	35343916		2203	4300	6503	32418029	SO:0001630	splice_region_variant	26574	exon5			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.833-1G>A	17.37:g.35343916G>A			32418029	NM_012138	A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537471	0.45176	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.96	5.96	0.96718	.	0.118075	0.85682	D	0.000000	T	0.53334	0.1790	L	0.39898	1.24	0.47819	D	0.999522	B	0.18863	0.031	B	0.25405	0.06	T	0.45011	-0.9290	8	.	.	.	.	12.8503	0.57855	0.0743:0.0:0.9257:0.0	.	278	Q9NY61	AATF_HUMAN	N	278	.	.	S	+	2	0	AATF	32418029	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.410000	0.59774	2.831000	0.97527	0.650000	0.86243	AGT		0.428	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138	Missense_Mutation
ACACA	31	broad.mit.edu	37	17	35486386	35486386	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:35486386A>T	ENST00000394406.2	-	47	5928	c.5738T>A	c.(5737-5739)cTg>cAg	p.L1913Q	ACACA_ENST00000361253.5_Missense_Mutation_p.L39Q|ACACA_ENST00000353139.5_Missense_Mutation_p.L1950Q|ACACA_ENST00000335166.5_Missense_Mutation_p.L1835Q|ACACA_ENST00000360679.3_Missense_Mutation_p.L1855Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1913	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L1950Q(1)|p.L1855Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTTGAGTTCAGAAGAGGAAC	0.478																																					p.L1950Q	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T5849A	17						.						109.0	98.0	102.0					17																	35486386		2203	4300	6503	32560499	SO:0001583	missense	31	exon47			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5738T>A	17.37:g.35486386A>T	ENSP00000377928:p.Leu1913Gln		32560499	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874569	0.51695	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48;-4.48	5.23	4.15	0.48705	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.95481	0.8532	L	0.55990	1.75	0.80722	D	1	B;P;B;B	0.47034	0.321;0.889;0.129;0.106	B;P;B;B	0.45310	0.205;0.476;0.145;0.055	D	0.93314	0.6687	10	0.41790	T	0.15	-9.3435	11.0149	0.47682	0.9262:0.0:0.0738:0.0	.	612;1950;1913;1855	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	Q	1950;1855;1913;1937;1835;612;39	ENSP00000344789:L1950Q;ENSP00000353898:L1855Q;ENSP00000377928:L1913Q;ENSP00000335323:L1835Q;ENSP00000354565:L39Q	ENSP00000335323:L1835Q	L	-	2	0	ACACA	32560499	1.000000	0.71417	0.990000	0.47175	0.436000	0.31835	6.165000	0.71891	0.825000	0.34637	-0.290000	0.09829	CTG		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
SPATA22	84690	broad.mit.edu	37	17	3352324	3352324	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:3352324G>A	ENST00000573128.1	-	6	932	c.449C>T	c.(448-450)tCg>tTg	p.S150L	SPATA22_ENST00000541913.1_Missense_Mutation_p.S134L|SPATA22_ENST00000355380.4_Missense_Mutation_p.S107L|SPATA22_ENST00000572969.1_Missense_Mutation_p.S150L|SPATA22_ENST00000575375.1_Missense_Mutation_p.S150L|SPATA22_ENST00000397168.3_Missense_Mutation_p.S150L|SPATA22_ENST00000268981.5_Missense_Mutation_p.S150L			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	150					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)		p.S150L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TTGAGCTCCCGAACTCACTGG	0.348																																					p.S107L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C320T	17						.						224.0	216.0	219.0					17																	3352324		2203	4300	6503	3299074	SO:0001583	missense	84690	exon5			AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.449C>T	17.37:g.3352324G>A	ENSP00000459580:p.Ser150Leu		3299074	NM_001170696	B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	ENST00000573128.1	37	CCDS11027.1	.	.	.	.	.	.	.	.	.	.	g	0.004	-2.275562	0.00257	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000268981;ENST00000541913	T;T;T;T	0.17528	2.27;2.28;2.36;2.28	5.07	1.32	0.21799	.	0.492717	0.15236	N	0.273151	T	0.04407	0.0121	N	0.01576	-0.805	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42732	-0.9434	10	0.09843	T	0.71	-21.9371	4.7288	0.12954	0.5222:0.3067:0.1712:0.0	.	134;150;107;150	F5GWB9;B4DXB1;Q8NHS9-2;Q8NHS9	.;.;.;SPT22_HUMAN	L	107;150;150;134	ENSP00000347541:S107L;ENSP00000380354:S150L;ENSP00000268981:S150L;ENSP00000441920:S134L	ENSP00000268981:S150L	S	-	2	0	SPATA22	3299074	0.984000	0.35163	0.046000	0.18839	0.031000	0.12232	1.472000	0.35376	0.035000	0.15519	-0.474000	0.04947	TCG		0.348	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438067.2	NM_032598	
ACACA	31	broad.mit.edu	37	17	35518742	35518742	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:35518742G>A	ENST00000394406.2	-	42	5381	c.5191C>T	c.(5191-5193)Cgc>Tgc	p.R1731C	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000353139.5_Missense_Mutation_p.R1768C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1653C|ACACA_ENST00000360679.3_Missense_Mutation_p.R1673C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1731	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R1673C(2)|p.R1768C(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACATATGGCGAATTTCTTCT	0.448																																					p.R1768C	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C5302T	17						.						184.0	146.0	159.0					17																	35518742		2203	4300	6503	32592855	SO:0001583	missense	31	exon42			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5191C>T	17.37:g.35518742G>A	ENSP00000377928:p.Arg1731Cys		32592855	NM_198834	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141556	0.77775	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.01	5.01	0.66863	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98105	0.9375	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.995;0.994	D;D;P;P	0.66847	0.921;0.947;0.892;0.827	D	0.98839	1.0754	10	0.62326	D	0.03	-8.6175	18.692	0.91586	0.0:0.0:1.0:0.0	.	430;1768;1731;1673	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	C	1768;1673;1731;1755;1653;430	ENSP00000344789:R1768C;ENSP00000353898:R1673C;ENSP00000377928:R1731C;ENSP00000335323:R1653C	ENSP00000335323:R1653C	R	-	1	0	ACACA	32592855	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.447000	0.52936	2.488000	0.83962	0.467000	0.42956	CGC		0.448	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
GPR179	440435	broad.mit.edu	37	17	36483171	36483171	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:36483171G>A	ENST00000342292.4	-	11	6301	c.6281C>T	c.(6280-6282)tCt>tTt	p.S2094F	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2094					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S2094F(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTTCTGTCAGAAGCATCTGG	0.577																																					p.S2094F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6281T	17						.						91.0	91.0	91.0					17																	36483171		2047	4200	6247	33736697	SO:0001583	missense	440435	exon11				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6281C>T	17.37:g.36483171G>A	ENSP00000345060:p.Ser2094Phe		33736697	NM_001004334		Missense_Mutation	SNP	ENST00000342292.4	37	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091811	0.55968	.	.	ENSG00000188888	ENST00000342292	T	0.57273	0.41	4.72	4.72	0.59763	.	0.523126	0.16263	N	0.222134	T	0.54727	0.1876	L	0.56769	1.78	0.09310	N	0.999999	P	0.49961	0.93	P	0.44732	0.459	T	0.55198	-0.8178	10	0.62326	D	0.03	-2.0945	15.2262	0.73354	0.0:0.0:1.0:0.0	.	2094	Q6PRD1	GP179_HUMAN	F	2094	ENSP00000345060:S2094F	ENSP00000345060:S2094F	S	-	2	0	GPR179	33736697	0.000000	0.05858	0.584000	0.28653	0.672000	0.39443	-0.157000	0.10085	2.449000	0.82847	0.561000	0.74099	TCT		0.577	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
CACNB1	782	broad.mit.edu	37	17	37341054	37341054	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:37341054A>G	ENST00000394303.3	-	8	919	c.712T>C	c.(712-714)Tcg>Ccg	p.S238P	CACNB1_ENST00000582877.1_5'Flank|CACNB1_ENST00000344140.5_Missense_Mutation_p.S283P|CACNB1_ENST00000394310.3_Missense_Mutation_p.S238P	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	238					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S283P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTTGAGCGACGGTCCCACC	0.612																																					p.S238P	Esophageal Squamous(5;100 366 38393 41452 45827)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T712C	17						.						58.0	51.0	53.0					17																	37341054		2203	4300	6503	34594580	SO:0001583	missense	782	exon8				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.712T>C	17.37:g.37341054A>G	ENSP00000377840:p.Ser238Pro		34594580	NM_000723	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	ENST00000394303.3	37	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060601	0.76074	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.84944	-1.92;-1.92;-1.92	5.28	5.28	0.74379	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	M	0.91196	3.185	0.80722	D	1	P;D;D	0.71674	0.482;0.96;0.998	B;D;D	0.85130	0.316;0.961;0.997	D	0.94897	0.8053	10	0.87932	D	0	-7.1052	14.1992	0.65690	1.0:0.0:0.0:0.0	.	283;238;238	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	P	188;238;283;238;189	ENSP00000377840:S238P;ENSP00000345461:S283P;ENSP00000377847:S238P	ENSP00000345461:S283P	S	-	1	0	CACNB1	34594580	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.137000	0.64789	1.992000	0.58205	0.454000	0.30748	TCG		0.612	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3		
RPL19	6143	broad.mit.edu	37	17	37360889	37360889	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:37360889G>A	ENST00000225430.4	+	6	641	c.579G>A	c.(577-579)gaG>gaA	p.E193E	RPL19_ENST00000582193.1_Silent_p.E191E|RPL19_ENST00000579260.1_Silent_p.E191E|RPL19_ENST00000579374.1_Silent_p.E190E	NM_000981.3	NP_000972.1	P84098	RL19_HUMAN	ribosomal protein L19	193					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						AGGAGGAAGAGACCAAGAAAT	0.478																																					p.E193E												.	.	0			c.G579A	17						.						46.0	49.0	48.0					17																	37360889		1881	4111	5992	34614415	SO:0001819	synonymous_variant	6143	exon6				CCDS42312.1	17q12	2012-09-20			ENSG00000108298	ENSG00000108298		"""L ribosomal proteins"""	10312	protein-coding gene	gene with protein product	"""60S ribosomal protein L19"", ""ribosomal protein L19, cytosolic, N-terminus truncated"""	180466				1577483	Standard	XM_005257564		Approved	FLJ27452, MGC71997, DKFZp779D216, L19	uc002hrq.1	P84098	OTTHUMG00000178979	ENST00000225430.4:c.579G>A	17.37:g.37360889G>A			34614415	NM_000981	B2R4K2|P14118|P22908|Q502Y6|Q7Z6E4	Silent	SNP	ENST00000225430.4	37	CCDS42312.1																																																																																				0.478	RPL19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444190.1	NM_000981	
MED1	5469	broad.mit.edu	37	17	37564506	37564506	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:37564506T>C	ENST00000300651.6	-	17	4191	c.3968A>G	c.(3967-3969)gAc>gGc	p.D1323G	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.D1323G(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GTCCAGTGGGTCTTCACCCCC	0.517										HNSCC(31;0.082)																											p.D1323G	Pancreas(21;279 768 2492 4877 24026)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3968G	17						.						84.0	91.0	89.0					17																	37564506		2203	4299	6502	34818032	SO:0001583	missense	5469	exon17			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3968A>G	17.37:g.37564506T>C	ENSP00000300651:p.Asp1323Gly		34818032	NM_004774	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.398566	0.42512	.	.	ENSG00000125686	ENST00000300651	T	0.34472	1.36	5.2	5.2	0.72013	.	.	.	.	.	T	0.31040	0.0784	N	0.08118	0	0.80722	D	1	D	0.55172	0.97	P	0.51833	0.681	T	0.25813	-1.0121	9	0.49607	T	0.09	-9.1833	15.526	0.75905	0.0:0.0:0.0:1.0	.	1323	Q15648	MED1_HUMAN	G	1323	ENSP00000300651:D1323G	ENSP00000300651:D1323G	D	-	2	0	MED1	34818032	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.702000	0.68332	2.308000	0.77769	0.533000	0.62120	GAC		0.517	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774	
CTNS	1497	broad.mit.edu	37	17	3552187	3552187	+	Missense_Mutation	SNP	C	C	T	rs555311279		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:3552187C>T	ENST00000046640.3	+	5	780	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	CTNS_ENST00000414524.2_Intron|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000381870.3_Missense_Mutation_p.R63C|CTNS_ENST00000441220.2_Intron|CTNS_ENST00000399306.2_Missense_Mutation_p.R63C	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	63					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)	p.R63C(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	AATCACATTTCGTTCCAAAAA	0.408																																					p.R63C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C187T	17						.						157.0	135.0	143.0					17																	3552187		2203	4300	6503	3498936	SO:0001583	missense	1497	exon5			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.187C>T	17.37:g.3552187C>T	ENSP00000046640:p.Arg63Cys		3498936	NM_004937	D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	ENST00000046640.3	37	CCDS11031.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885690	0.51908	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000452111;ENST00000399306	D;D;T;T	0.95588	-3.74;-3.75;1.52;1.52	5.06	-0.468	0.12146	.	1.343930	0.04357	N	0.356786	D	0.92034	0.7476	L	0.57536	1.79	0.09310	N	1	D;D	0.54964	0.958;0.969	B;B	0.40782	0.238;0.34	D	0.83530	0.0090	10	0.56958	D	0.05	11.1971	0.6563	0.00835	0.1692:0.2903:0.1664:0.374	.	63;63	O60931;O60931-2	CTNS_HUMAN;.	C	63	ENSP00000046640:R63C;ENSP00000371294:R63C;ENSP00000408652:R63C;ENSP00000382245:R63C	ENSP00000046640:R63C	R	+	1	0	CTNS	3498936	0.756000	0.28383	0.155000	0.22561	0.797000	0.45037	0.755000	0.26405	0.085000	0.17107	-0.165000	0.13383	CGT		0.408	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937	
ITGAE	3682	broad.mit.edu	37	17	3632789	3632789	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:3632789G>A	ENST00000263087.4	-	24	2993	c.2895C>T	c.(2893-2895)ttC>ttT	p.F965F	CTD-3195I5.4_ENST00000575043.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	965					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.F965F(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAACTGCAACGAAGCCATGCC	0.532																																					p.F965F	NSCLC(182;635 2928 8995 38788)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2895T	17						.						200.0	159.0	173.0					17																	3632789		2203	4300	6503	3579538	SO:0001819	synonymous_variant	3682	exon24			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2895C>T	17.37:g.3632789G>A			3579538	NM_002208	Q17RS6|Q9NZU9	Silent	SNP	ENST00000263087.4	37	CCDS32531.1																																																																																				0.532	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208	
MED1	5469	broad.mit.edu	37	17	37565013	37565013	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:37565013C>T	ENST00000300651.6	-	17	3684	c.3461G>A	c.(3460-3462)gGc>gAc	p.G1154D	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.G1154D(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGGAGAGGAGCCTGGCTTCCC	0.473										HNSCC(31;0.082)																											p.G1154D	Pancreas(21;279 768 2492 4877 24026)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3461A	17						.						81.0	81.0	81.0					17																	37565013		2203	4300	6503	34818539	SO:0001583	missense	5469	exon17			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3461G>A	17.37:g.37565013C>T	ENSP00000300651:p.Gly1154Asp		34818539	NM_004774	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224014	0.39300	.	.	ENSG00000125686	ENST00000300651	T	0.39592	1.07	5.35	5.35	0.76521	.	.	.	.	.	T	0.49029	0.1533	N	0.24115	0.695	0.54753	D	0.999987	D	0.63880	0.993	P	0.58520	0.84	T	0.50250	-0.8850	9	0.66056	D	0.02	-10.5297	19.6142	0.95626	0.0:1.0:0.0:0.0	.	1154	Q15648	MED1_HUMAN	D	1154	ENSP00000300651:G1154D	ENSP00000300651:G1154D	G	-	2	0	MED1	34818539	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.779000	0.68948	2.941000	0.99782	0.655000	0.94253	GGC		0.473	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774	
KRT222	125113	broad.mit.edu	37	17	38813721	38813721	+	Missense_Mutation	SNP	G	G	T	rs577507530		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:38813721G>T	ENST00000476049.1	-	5	583	c.542C>A	c.(541-543)tCt>tAt	p.S181Y	KRT222_ENST00000394052.3_Missense_Mutation_p.S181Y			Q8N1A0	KT222_HUMAN	keratin 222	181						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S181Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TGTAGTAAAAGATATTTCATT	0.269																																					p.S181Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C542A	17						.						81.0	77.0	78.0					17																	38813721		2201	4298	6499	36067247	SO:0001583	missense	125113	exon5			AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.542C>A	17.37:g.38813721G>T	ENSP00000463483:p.Ser181Tyr		36067247	NM_152349	Q7Z368	Missense_Mutation	SNP	ENST00000476049.1	37	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666996	0.29604	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	D	0.84370	-1.84	5.18	5.18	0.71444	.	1.093400	0.07085	U	0.837716	T	0.74809	0.3765	N	0.19112	0.55	0.34322	D	0.686642	B	0.02656	0.0	B	0.04013	0.001	T	0.70941	-0.4735	10	0.51188	T	0.08	-10.1967	4.2975	0.10908	0.083:0.1564:0.5981:0.1625	.	181	Q8N1A0	KT222_HUMAN	Y	141;181	ENSP00000377616:S181Y	ENSP00000377613:S141Y	S	-	2	0	KRT222	36067247	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	1.623000	0.37008	2.687000	0.91594	0.557000	0.71058	TCT		0.269	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349	
TMEM99	147184	broad.mit.edu	37	17	38991322	38991322	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:38991322A>C	ENST00000301665.3	+	3	858	c.554A>C	c.(553-555)aAa>aCa	p.K185T		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	185						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GAGTGGAATAAAAATATAAAT	0.388																																					p.K185T												.	.	0			c.A554C	17						.						78.0	78.0	78.0					17																	38991322		1818	4082	5900	36244848	SO:0001583	missense	147184	exon3			AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.554A>C	17.37:g.38991322A>C	ENSP00000301665:p.Lys185Thr		36244848	NM_001195386	B4DQ34|Q96BP9	Missense_Mutation	SNP	ENST00000301665.3	37	CCDS42319.1	.	.	.	.	.	.	.	.	.	.	A	9.584	1.124460	0.20959	.	.	ENSG00000167920	ENST00000436612;ENST00000301665	T;T	0.29917	1.55;1.55	3.6	1.16	0.20824	.	.	.	.	.	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	D	0.56968	0.978	P	0.50537	0.643	T	0.11494	-1.0585	9	0.87932	D	0	.	6.0818	0.19944	0.5832:0.0:0.0:0.4168	.	185	Q8N816	TMM99_HUMAN	T	185	ENSP00000390036:K185T;ENSP00000301665:K185T	ENSP00000301665:K185T	K	+	2	0	TMEM99	36244848	0.000000	0.05858	0.002000	0.10522	0.165000	0.22458	0.146000	0.16180	0.084000	0.17077	0.533000	0.62120	AAA		0.388	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1	NM_145274	
KRTAP9-2	83899	broad.mit.edu	37	17	39383343	39383343	+	Missense_Mutation	SNP	G	G	A	rs537525683		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:39383343G>A	ENST00000377721.3	+	1	444	c.437G>A	c.(436-438)cGc>cAc	p.R146H	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.R130H	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	146	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)		p.R146H(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCTGCTGCCGCCCAGCCTGC	0.607													.|||	1	0.000199681	0.0	0.0014	5008	,	,		19195	0.0		0.0	False		,,,				2504	0.0				p.R146H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G437A	17						.						22.0	24.0	23.0					17																	39383343		2102	4143	6245	36636869	SO:0001583	missense	83899	exon1			AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.437G>A	17.37:g.39383343G>A	ENSP00000366950:p.Arg146His		36636869	NM_031961	Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	10.81	1.456193	0.26161	.	.	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01438	5.25;4.89	2.89	-4.23	0.03789	.	.	.	.	.	T	0.01661	0.0053	L	0.55481	1.735	0.09310	N	1	D	0.60575	0.988	B	0.42738	0.396	T	0.25047	-1.0143	9	0.51188	T	0.08	.	5.2574	0.15553	0.366:0.1464:0.4876:0.0	.	146	Q9BYQ4	KRA92_HUMAN	H	146;130	ENSP00000366950:R146H;ENSP00000398325:R130H	ENSP00000366950:R146H	R	+	2	0	KRTAP9-2	36636869	0.000000	0.05858	0.002000	0.10522	0.850000	0.48378	-0.974000	0.03794	-1.027000	0.03325	-0.706000	0.03657	CGC		0.607	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1		
KRT34	3885	broad.mit.edu	37	17	39537968	39537968	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:39537968C>T	ENST00000394001.1	-	2	584	c.554G>A	c.(553-555)aGc>aAc	p.S185N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	185	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S185N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AACATACTTGCTTCTGAAGTC	0.463																																					p.S185N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G554A	17						.						68.0	66.0	67.0					17																	39537968		2203	4300	6503	36791494	SO:0001583	missense	3885	exon2			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.554G>A	17.37:g.39537968C>T	ENSP00000377570:p.Ser185Asn		36791494	NM_021013	Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	12.76	2.035011	0.35893	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.55	4.58	0.56647	Filament (1);	0.198551	0.35708	N	0.003025	T	0.29652	0.0740	N	0.25380	0.74	0.22796	N	0.998727	B	0.10296	0.003	B	0.22880	0.042	T	0.25641	-1.0126	9	0.87932	D	0	.	7.3985	0.26950	0.1468:0.1458:0.7074:0.0	.	185	O76011	KRT34_HUMAN	N	143;185	.	ENSP00000251648:S185N	S	-	2	0	KRT34	36791494	0.001000	0.12720	1.000000	0.80357	0.986000	0.74619	0.549000	0.23329	1.344000	0.45657	-0.153000	0.13522	AGC		0.463	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013	
KRT37	8688	broad.mit.edu	37	17	39580392	39580392	+	Missense_Mutation	SNP	C	C	A	rs139285173	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:39580392C>A	ENST00000225550.3	-	1	383	c.384G>T	c.(382-384)gaG>gaT	p.E128D	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	128	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E128D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTCTGCATTCTCCTGCTCCA	0.577																																					p.E128D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G384T	17						.	C	ASP/GLU	0,4406		0,0,2203	119.0	97.0	105.0		384	-0.3	0.5	17	dbSNP_134	105	2,8598		0,2,4298	no	missense	KRT37	NM_003770.4	45	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	benign	128/450	39580392	2,13004	2203	4300	6503	36833918	SO:0001583	missense	8688	exon1			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.384G>T	17.37:g.39580392C>A	ENSP00000225550:p.Glu128Asp		36833918	NM_003770		Missense_Mutation	SNP	ENST00000225550.3	37	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	8.525	0.869640	0.17322	0.0	2.33E-4	ENSG00000108417	ENST00000225550	D	0.89415	-2.51	4.69	-0.261	0.12963	Filament (1);	0.554792	0.16140	N	0.227783	T	0.82015	0.4945	L	0.41356	1.27	0.26246	N	0.978797	B	0.02656	0.0	B	0.04013	0.001	T	0.62964	-0.6742	10	0.15952	T	0.53	.	13.9444	0.64075	0.0:0.4135:0.5137:0.0728	.	128	O76014	KRT37_HUMAN	D	128	ENSP00000225550:E128D	ENSP00000225550:E128D	E	-	3	2	KRT37	36833918	0.010000	0.17322	0.508000	0.27688	0.429000	0.31625	-1.389000	0.02530	-0.220000	0.09988	-0.147000	0.13772	GAG		0.577	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
KRT36	8689	broad.mit.edu	37	17	39645746	39645746	+	Missense_Mutation	SNP	C	C	T	rs574250840	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:39645746C>T	ENST00000328119.6	-	1	370	c.371G>A	c.(370-372)cGc>cAc	p.R124H	KRT36_ENST00000393986.2_Missense_Mutation_p.R74H	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	124	Coil 1A.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)	p.R124H(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTCCTGGATGCGGCTCTCCAG	0.572													C|||	2	0.000399361	0.0	0.0	5008	,	,		17910	0.0		0.0	False		,,,				2504	0.002				p.R124H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	17						.						146.0	133.0	137.0					17																	39645746		2203	4300	6503	36899272	SO:0001583	missense	8689	exon1			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.371G>A	17.37:g.39645746C>T	ENSP00000329165:p.Arg124His		36899272	NM_003771	Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612752	0.66672	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.89617	-2.54;-2.54	5.57	4.52	0.55395	Filament (1);	0.228496	0.21345	N	0.076065	T	0.81446	0.4824	L	0.59436	1.845	0.37883	D	0.930449	P	0.40431	0.717	B	0.31751	0.135	T	0.83043	-0.0156	10	0.87932	D	0	.	2.0207	0.03508	0.2903:0.4496:0.0:0.2601	.	124	O76013	KRT36_HUMAN	H	74;124	ENSP00000377555:R74H;ENSP00000329165:R124H	ENSP00000329165:R124H	R	-	2	0	KRT36	36899272	0.003000	0.15002	0.992000	0.48379	0.950000	0.60333	1.109000	0.31135	2.620000	0.88729	0.563000	0.77884	CGC		0.572	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771	
HAP1	9001	broad.mit.edu	37	17	39888992	39888992	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:39888992C>A	ENST00000310778.5	-	2	537	c.528G>T	c.(526-528)gtG>gtT	p.V176V	HAP1_ENST00000347901.4_Silent_p.V176V|HAP1_ENST00000393939.2_Silent_p.V176V|JUP_ENST00000540235.1_Intron|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000341193.5_Silent_p.V176V			P54257	HAP1_HUMAN	huntingtin-associated protein 1	176	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)	p.V176V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AATATAACATCACTTTGACGT	0.527																																					p.V176V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G528T	17						.						159.0	139.0	146.0					17																	39888992		2203	4300	6503	37142518	SO:0001819	synonymous_variant	9001	exon2			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.528G>T	17.37:g.39888992C>A			37142518	NM_001079871	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	ENST00000310778.5	37																																																																																					0.527	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949	
FKBP10	60681	broad.mit.edu	37	17	39976664	39976664	+	Nonsense_Mutation	SNP	C	C	T	rs372896892		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:39976664C>T	ENST00000321562.4	+	7	1311	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	FKBP10_ENST00000544340.1_Nonsense_Mutation_p.R176*	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	403	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGACTTTGTTCGATACCATTA	0.592																																					p.R403X												.	.	0			c.C1207T	17						.	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	174.0	164.0	168.0		1207	5.4	0.2	17		168	0,8600		0,0,4300	no	stop-gained	FKBP10	NM_021939.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		403/583	39976664	1,13005	2203	4300	6503	37230190	SO:0001587	stop_gained	60681	exon7			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1207C>T	17.37:g.39976664C>T	ENSP00000317232:p.Arg403*		37230190	NM_021939	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Nonsense_Mutation	SNP	ENST00000321562.4	37	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	32	5.175341	0.94807	2.27E-4	0.0	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352;ENST00000544340	.	.	.	5.38	5.38	0.77491	.	0.245105	0.34435	N	0.003973	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-12.7398	14.0008	0.64433	0.1515:0.8485:0.0:0.0	.	.	.	.	X	291;403;403;176	.	ENSP00000269598:R291X	R	+	1	2	FKBP10	37230190	0.013000	0.17824	0.202000	0.23494	0.968000	0.65278	1.054000	0.30455	2.702000	0.92279	0.655000	0.94253	CGA		0.592	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939	
KLHL10	317719	broad.mit.edu	37	17	40001806	40001806	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:40001806G>A	ENST00000293303.4	+	3	1266	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	371					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.P371P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGGTGGCCCCGATGCACTCCA	0.453																																					p.P371P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1113A	17						.						103.0	101.0	102.0					17																	40001806		1981	4157	6138	37255332	SO:0001819	synonymous_variant	317719	exon3			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1113G>A	17.37:g.40001806G>A			37255332	NM_152467	Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	CCDS42340.1																																																																																				0.453	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467	
KLHL11	55175	broad.mit.edu	37	17	40011506	40011506	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:40011506A>C	ENST00000319121.3	-	2	673	c.613T>G	c.(613-615)Tgt>Ggt	p.C205G		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	205	BACK.							p.C205G(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ATTGCCACACAATTTGAGAGA	0.353																																					p.C205G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T613G	17						.						59.0	61.0	60.0					17																	40011506		2201	4299	6500	37265032	SO:0001583	missense	55175	exon2				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.613T>G	17.37:g.40011506A>C	ENSP00000314608:p.Cys205Gly		37265032	NM_018143		Missense_Mutation	SNP	ENST00000319121.3	37	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208854	0.58343	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.74947	-0.89	4.99	4.99	0.66335	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.87888	0.6291	M	0.90759	3.145	0.80722	D	1	D	0.62365	0.991	D	0.69307	0.963	D	0.90569	0.4521	10	0.87932	D	0	-2.6516	14.6782	0.68998	1.0:0.0:0.0:0.0	.	205	Q9NVR0	KLH11_HUMAN	G	205;68	ENSP00000314608:C205G	ENSP00000314608:C205G	C	-	1	0	KLHL11	37265032	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.818000	0.91991	1.878000	0.54408	0.482000	0.46254	TGT		0.353	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143	
ACLY	47	broad.mit.edu	37	17	40025007	40025007	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:40025007C>T	ENST00000352035.2	-	28	3296	c.3166G>A	c.(3166-3168)Gcc>Acc	p.A1056T	ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000590151.1_Missense_Mutation_p.A1056T|ACLY_ENST00000393896.2_Missense_Mutation_p.A1046T|ACLY_ENST00000537919.1_Missense_Mutation_p.A785T|ACLY_ENST00000353196.1_Missense_Mutation_p.A1046T	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1056					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.A1056T(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCATTGAGGGCTCCAATGTCA	0.448																																					p.A1046T	Colon(64;807 1396 15971 30971)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3136A	17						.						168.0	147.0	154.0					17																	40025007		2203	4300	6503	37278533	SO:0001583	missense	47	exon27			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3166G>A	17.37:g.40025007C>T	ENSP00000253792:p.Ala1056Thr		37278533	NM_198830	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	c	17.37	3.371474	0.61624	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;D;T	0.88124	-1.3;-1.33;-2.34;-1.33	5.53	5.53	0.82687	Citrate synthase-like, core (1);	0.047458	0.85682	D	0.000000	T	0.77538	0.4145	N	0.05510	-0.035	0.80722	D	1	B;B;B;B;B	0.18461	0.028;0.006;0.012;0.022;0.007	B;B;B;B;B	0.26770	0.012;0.026;0.019;0.073;0.011	T	0.70680	-0.4805	10	0.15499	T	0.54	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	785;1100;1110;1046;1056	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	T	1056;1110;1046;785;1046	ENSP00000253792:A1056T;ENSP00000345398:A1046T;ENSP00000445349:A785T;ENSP00000377474:A1046T	ENSP00000253792:A1056T	A	-	1	0	ACLY	37278533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.182000	0.77689	2.882000	0.98803	0.655000	0.94253	GCC		0.448	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	
STAT5B	6777	broad.mit.edu	37	17	40369257	40369257	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:40369257G>A	ENST00000293328.3	-	11	1469	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	434					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S434L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TTCTGTCACCGACTCTGCCCC	0.428																																					p.S434L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1301T	17						.						109.0	95.0	100.0					17																	40369257		2203	4300	6503	37622783	SO:0001583	missense	6777	exon11			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1301C>T	17.37:g.40369257G>A	ENSP00000293328:p.Ser434Leu		37622783	NM_012448	Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239540	0.95240	.	.	ENSG00000173757	ENST00000293328	D	0.87729	-2.29	4.88	4.88	0.63580	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	M	0.63428	1.95	0.80722	D	1	D	0.65815	0.995	P	0.49853	0.624	D	0.90294	0.4325	10	0.59425	D	0.04	1.5677	18.2148	0.89881	0.0:0.0:1.0:0.0	.	434	P51692	STA5B_HUMAN	L	434	ENSP00000293328:S434L	ENSP00000293328:S434L	S	-	2	0	STAT5B	37622783	1.000000	0.71417	0.951000	0.38953	0.948000	0.59901	9.509000	0.98002	2.532000	0.85374	0.561000	0.74099	TCG		0.428	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448	
IFI35	3430	broad.mit.edu	37	17	41165103	41165103	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:41165103G>T	ENST00000415816.2	+	3	383	c.160G>T	c.(160-162)Gga>Tga	p.G54*	IFI35_ENST00000438323.2_Nonsense_Mutation_p.G54*	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	54					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.G54*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GGTATTCCGAGGACACACCCA	0.557																																					p.G54X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G160T	17						.						143.0	142.0	143.0					17																	41165103		2203	4300	6503	38418629	SO:0001587	stop_gained	3430	exon3			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.160G>T	17.37:g.41165103G>T	ENSP00000394579:p.Gly54*		38418629	NM_005533	C9JGX1|Q92984|Q99537|Q9BV98	Nonsense_Mutation	SNP	ENST00000415816.2	37		.	.	.	.	.	.	.	.	.	.	G	17.66	3.445695	0.63178	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	.	.	.	5.03	5.03	0.67393	.	0.209202	0.39274	N	0.001417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.2143	0.73250	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000394579:G54X	G	+	1	0	IFI35	38418629	0.999000	0.42202	0.825000	0.32803	0.154000	0.21943	2.909000	0.48758	2.618000	0.88619	0.561000	0.74099	GGA		0.557	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000395851.1	NM_005533	
DHX8	1659	broad.mit.edu	37	17	41570101	41570101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:41570101C>T	ENST00000262415.3	+	6	628	c.556C>T	c.(556-558)Cga>Tga	p.R186*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.R186*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	186	Arg/Ser-rich (RS domain).				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R186*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		aaaccgagatcgagacagaga	0.483																																					p.R186X	NSCLC(56;1548 1661 49258 49987)											.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C556T	17						.						105.0	101.0	102.0					17																	41570101		2203	4300	6503	38925627	SO:0001587	stop_gained	1659	exon6			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.556C>T	17.37:g.41570101C>T	ENSP00000262415:p.Arg186*		38925627	NM_004941		Nonsense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657570	0.29425	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	3.79	-4.73	0.03259	.	0.000000	0.41938	D	0.000783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	14.2138	0.65781	0.7723:0.2277:0.0:0.0	.	.	.	.	X	186	.	ENSP00000262415:R186X	R	+	1	2	DHX8	38925627	0.004000	0.15560	0.001000	0.08648	0.245000	0.25701	0.013000	0.13310	-0.808000	0.04387	-0.397000	0.06425	CGA		0.483	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
DHX8	1659	broad.mit.edu	37	17	41570853	41570853	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:41570853C>T	ENST00000262415.3	+	7	976	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	DHX8_ENST00000540306.1_Missense_Mutation_p.R302W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	302	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R302W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGAGCTCCGGCGGGAGGGTCG	0.542																																					p.R302W	NSCLC(56;1548 1661 49258 49987)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C904T	17						.						117.0	110.0	112.0					17																	41570853		2203	4300	6503	38926379	SO:0001583	missense	1659	exon7			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.904C>T	17.37:g.41570853C>T	ENSP00000262415:p.Arg302Trp		38926379	NM_004941		Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361634	0.61403	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.43688	0.94;0.94	5.18	4.21	0.49690	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.051263	0.85682	D	0.000000	T	0.36635	0.0974	N	0.03304	-0.355	0.58432	D	0.99999	D;D	0.76494	0.999;0.979	D;P	0.63283	0.913;0.571	T	0.49513	-0.8932	10	0.66056	D	0.02	.	11.5979	0.50984	0.4491:0.5509:0.0:0.0	.	302;302	F5H658;Q14562	.;DHX8_HUMAN	W	302	ENSP00000437886:R302W;ENSP00000262415:R302W	ENSP00000262415:R302W	R	+	1	2	DHX8	38926379	0.983000	0.35010	0.973000	0.42090	0.995000	0.86356	2.639000	0.46570	1.393000	0.46605	0.655000	0.94253	CGG		0.542	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
ZZEF1	23140	broad.mit.edu	37	17	3957382	3957382	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:3957382G>A	ENST00000381638.2	-	34	5527	c.5403C>T	c.(5401-5403)agC>agT	p.S1801S	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1801							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S1801S(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATCCATGTCGCTGCACTGCA	0.458																																					p.S1801S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5403T	17						.						127.0	114.0	118.0					17																	3957382		2203	4300	6503	3904131	SO:0001819	synonymous_variant	23140	exon34			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5403C>T	17.37:g.3957382G>A			3904131	NM_015113	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																				0.458	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
DHX8	1659	broad.mit.edu	37	17	41576321	41576321	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:41576321T>C	ENST00000262415.3	+	10	1464	c.1392T>C	c.(1390-1392)atT>atC	p.I464I	DHX8_ENST00000540306.1_Silent_p.I464I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	464					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.I464I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCATTAAAATTGTCAAGGTGA	0.413																																					p.I464I	NSCLC(56;1548 1661 49258 49987)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1392C	17						.						76.0	66.0	70.0					17																	41576321		2203	4300	6503	38931847	SO:0001819	synonymous_variant	1659	exon10			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1392T>C	17.37:g.41576321T>C			38931847	NM_004941		Silent	SNP	ENST00000262415.3	37	CCDS11464.1																																																																																				0.413	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
MPP2	4355	broad.mit.edu	37	17	41955263	41955263	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:41955263T>C	ENST00000461854.1	-	14	1728	c.1643A>G	c.(1642-1644)aAc>aGc	p.N548S	MPP2_ENST00000523501.1_Missense_Mutation_p.N513S|MPP2_ENST00000518766.1_Missense_Mutation_p.N569S|MPP2_ENST00000269095.4_Missense_Mutation_p.N524S|MPP2_ENST00000520305.1_Missense_Mutation_p.N385S|MPP2_ENST00000377184.3_Missense_Mutation_p.N541S|MPP2_ENST00000536246.1_Missense_Mutation_p.N513S			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	548	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.N524S(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCTCTCCAGGTTGCTATTGAC	0.627																																					p.N524S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1571G	17						.						95.0	81.0	86.0					17																	41955263		2203	4300	6503	39310789	SO:0001583	missense	4355	exon13				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1643A>G	17.37:g.41955263T>C	ENSP00000428286:p.Asn548Ser		39310789	NM_005374	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37		.	.	.	.	.	.	.	.	.	.	t	20.4	3.985989	0.74589	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.21	5.21	0.72293	.	.	.	.	.	T	0.27731	0.0682	L	0.58810	1.83	0.48511	D	0.999662	P;P	0.43287	0.553;0.802	P;P	0.49332	0.466;0.607	T	0.01225	-1.1413	9	0.45353	T	0.12	.	13.1024	0.59228	0.0:0.0:0.0:1.0	.	569;541	E7EV80;Q14168-3	.;.	S	541;524;548;385;513;513;569	ENSP00000366389:N541S;ENSP00000269095:N524S;ENSP00000428286:N548S;ENSP00000428136:N385S;ENSP00000430540:N513S;ENSP00000438012:N513S;ENSP00000428182:N569S	ENSP00000269095:N524S	N	-	2	0	MPP2	39310789	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.258000	0.51507	1.977000	0.57605	0.454000	0.30748	AAC		0.627	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374	
MPP2	4355	broad.mit.edu	37	17	41958516	41958516	+	Silent	SNP	G	G	A	rs573008913		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:41958516G>A	ENST00000461854.1	-	10	1087	c.1002C>T	c.(1000-1002)tgC>tgT	p.C334C	MPP2_ENST00000523501.1_Silent_p.C299C|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Silent_p.C355C|MPP2_ENST00000269095.4_Silent_p.C310C|MPP2_ENST00000520305.1_Silent_p.C171C|MPP2_ENST00000377184.3_Silent_p.C327C|MPP2_ENST00000536246.1_Silent_p.C299C			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	334					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.C310C(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AAAGGCTGCCGCATAGGGTCC	0.562											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1	0.000199681	0.0	0.0	5008	,	,		20245	0.001		0.0	False		,,,				2504	0.0				p.C310C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C930T	17						.						123.0	129.0	127.0					17																	41958516		2203	4300	6503	39314042	SO:0001819	synonymous_variant	4355	exon9				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1002C>T	17.37:g.41958516G>A		905	39314042	NM_005374	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000461854.1	37																																																																																					0.562	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374	
C17orf53	78995	broad.mit.edu	37	17	42225981	42225981	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:42225981G>A	ENST00000319977.4	+	3	1047	c.810G>A	c.(808-810)ccG>ccA	p.P270P	C17orf53_ENST00000245382.6_Silent_p.P270P|C17orf53_ENST00000585683.1_Silent_p.P270P	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	270								p.P270P(2)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AAGTCTGTCCGCAACGCTCCC	0.562																																					p.P270P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G810A	17						.						114.0	102.0	106.0					17																	42225981		2203	4300	6503	39581507	SO:0001819	synonymous_variant	78995	exon3			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.810G>A	17.37:g.42225981G>A			39581507	NM_001171251	A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	A	3.696	-0.062627	0.07273	.	.	ENSG00000125319	ENST00000253405	.	.	.	3.9	-2.33	0.06724	.	.	.	.	.	T	0.19565	0.0470	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.24048	-1.0171	5	0.29301	T	0.29	-3.2336	1.0994	0.01680	0.1794:0.2246:0.1418:0.4542	.	.	.	.	T	124	.	ENSP00000253405:A124T	A	+	1	0	C17orf53	39581507	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.524000	0.02233	-0.601000	0.05783	-0.381000	0.06696	GCA		0.562	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032	
SLC4A1	6521	broad.mit.edu	37	17	42335367	42335367	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:42335367G>A	ENST00000262418.6	-	11	1424	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	423	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.F423F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGAGGCCGCCGAAGGTGATGG	0.572																																					p.F423F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1269T	17						.						64.0	59.0	61.0					17																	42335367		2203	4300	6503	39690893	SO:0001819	synonymous_variant	6521	exon11				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1269C>T	17.37:g.42335367G>A			39690893	NM_000342	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	ENST00000262418.6	37	CCDS11481.1																																																																																				0.572	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342	
C17orf104	284071	broad.mit.edu	37	17	42745158	42745158	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:42745158G>T	ENST00000409122.2	+	5	2021	c.1879G>T	c.(1879-1881)Gat>Tat	p.D627Y	C17orf104_ENST00000409464.1_Missense_Mutation_p.D461Y|C17orf104_ENST00000359945.3_Missense_Mutation_p.D627Y	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	627								p.D627Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AAAGCATTTAGATGGCTTATC	0.418																																					p.D627Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1879T	17						.						55.0	54.0	54.0					17																	42745158		2203	4300	6503	40100684	SO:0001583	missense	284071	exon5				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1879G>T	17.37:g.42745158G>T	ENSP00000386452:p.Asp627Tyr		40100684	NM_001145080	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590299	0.46214	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.38560	1.13;1.13;1.15	5.66	4.63	0.57726	.	0.228496	0.37955	N	0.001861	T	0.49729	0.1574	L	0.34521	1.04	0.35138	D	0.768588	D;D;D	0.56968	0.978;0.974;0.978	P;P;P	0.58873	0.847;0.748;0.77	T	0.61574	-0.7035	10	0.66056	D	0.02	-19.5534	16.0719	0.80941	0.0:0.134:0.866:0.0	.	627;627;461	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	Y	627;627;461	ENSP00000353028:D627Y;ENSP00000386452:D627Y;ENSP00000386586:D461Y	ENSP00000353028:D627Y	D	+	1	0	C17orf104	40100684	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.436000	0.66538	2.663000	0.90544	0.655000	0.94253	GAT		0.418	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080	
GJC1	10052	broad.mit.edu	37	17	42882801	42882801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:42882801C>A	ENST00000426548.1	-	3	654	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	GJC1_ENST00000590758.1_Nonsense_Mutation_p.E129*|GJC1_ENST00000592524.1_Nonsense_Mutation_p.E129*|GJC1_ENST00000330514.4_Nonsense_Mutation_p.E129*	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	129					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.E129*(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCCTCCGTTTCTTCCAGAGCC	0.483																																					p.E129X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G385T	17						.						154.0	141.0	146.0					17																	42882801		2203	4300	6503	40238327	SO:0001587	stop_gained	10052	exon3			U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.385G>T	17.37:g.42882801C>A	ENSP00000411528:p.Glu129*		40238327	NM_005497	B3KW68|Q4VAY0	Nonsense_Mutation	SNP	ENST00000426548.1	37	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933648	0.73442	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	.	.	.	5.27	4.31	0.51392	.	0.230557	0.43110	D	0.000614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	9.5482	0.39293	0.0:0.8401:0.0:0.1599	.	.	.	.	X	129	.	ENSP00000333193:E129X	E	-	1	0	GJC1	40238327	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	6.091000	0.71406	1.225000	0.43566	-0.448000	0.05591	GAA		0.483	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
FMNL1	752	broad.mit.edu	37	17	43314685	43314685	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:43314685T>C	ENST00000331495.3	+	8	1097	c.761T>C	c.(760-762)gTc>gCc	p.V254A	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.V254A|CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	254	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.V254A(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCAGCCTGTGTCAATGAGATT	0.572																																					p.V254A	GBM(164;1247 1997 8702 11086 51972)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T761C	17						.						119.0	107.0	111.0					17																	43314685		2203	4300	6503	40670468	SO:0001583	missense	752	exon8			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.761T>C	17.37:g.43314685T>C	ENSP00000329219:p.Val254Ala		40670468	NM_005892	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.605830	0.66445	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.90620	-2.7;-2.7	3.83	3.83	0.44106	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.95396	0.8486	10	0.56958	D	0.05	.	12.8373	0.57780	0.0:0.0:0.0:1.0	.	254	O95466	FMNL_HUMAN	A	254	ENSP00000327442:V254A;ENSP00000329219:V254A	ENSP00000327442:V254A	V	+	2	0	FMNL1	40670468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.868000	0.87116	1.972000	0.57404	0.379000	0.24179	GTC		0.572	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892	
SPPL2C	162540	broad.mit.edu	37	17	43923445	43923445	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:43923445C>T	ENST00000329196.5	+	1	1190	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	391						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.F391F(1)									TCTTTGTCTTCGTCACCCCCT	0.582																																					p.F391F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1173T	17						.						80.0	81.0	81.0					17																	43923445		2203	4300	6503	41279225	SO:0001819	synonymous_variant	162540	exon1				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1173C>T	17.37:g.43923445C>T			41279225	NM_175882	Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	CCDS32673.1																																																																																				0.582	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882	
MAPT	4137	broad.mit.edu	37	17	44073788	44073788	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:44073788C>T	ENST00000571987.1	+	9	1531	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C	MAPT_ENST00000262410.5_Missense_Mutation_p.R511C|MAPT_ENST00000347967.5_Missense_Mutation_p.R100C|MAPT_ENST00000351559.5_Missense_Mutation_p.R194C|MAPT_ENST00000344290.5_Missense_Mutation_p.R529C|STH_ENST00000537309.1_5'Flank|MAPT_ENST00000420682.2_Missense_Mutation_p.R165C|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000415613.2_Missense_Mutation_p.R529C|MAPT_ENST00000340799.5_Missense_Mutation_p.R165C|MAPT_ENST00000431008.3_Missense_Mutation_p.R194C|MAPT_ENST00000574436.1_Missense_Mutation_p.R194C|MAPT_ENST00000446361.3_Missense_Mutation_p.R136C|MAPT_ENST00000535772.1_Missense_Mutation_p.R194C|MAPT_ENST00000576518.1_Missense_Mutation_p.R125C|MAPT_ENST00000334239.8_Missense_Mutation_p.R136C			P10636	TAU_HUMAN	microtubule-associated protein tau	511					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.R511C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	ATCAGGGGATCGCAGCGGCTA	0.682																																					p.R136C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C406T	17						.						17.0	22.0	20.0					17																	44073788		2170	4249	6419	41429625	SO:0001583	missense	4137	exon6			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1531C>T	17.37:g.44073788C>T	ENSP00000458742:p.Arg511Cys		41429625	NM_016834	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754789	0.69648	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000351559;ENST00000340799;ENST00000535772;ENST00000347967;ENST00000354326;ENST00000446361;ENST00000334239;ENST00000420682;ENST00000415613;ENST00000431008	T;T;T;T;T;T;T;T;T;T	0.20069	2.67;2.67;2.12;2.1;2.4;2.11;2.14;2.38;2.1;2.67	5.62	4.59	0.56863	.	0.000000	0.40302	N	0.001124	T	0.42359	0.1199	M	0.65498	2.005	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;P;D;D	0.91635	0.999;0.997;0.996;0.997;0.899;0.967;0.993	T	0.23048	-1.0199	10	0.66056	D	0.02	-15.1967	11.3639	0.49660	0.3165:0.6835:0.0:0.0	.	529;165;143;136;136;194;511	P10636-9;P10636-7;F8WAB2;P10636-2;P10636-6;P10636-8;P10636	.;.;.;.;.;.;TAU_HUMAN	C	529;511;194;165;194;100;143;136;136;165;529;48	ENSP00000340820:R529C;ENSP00000262410:R511C;ENSP00000303214:R194C;ENSP00000340438:R165C;ENSP00000443028:R194C;ENSP00000302706:R100C;ENSP00000408975:R136C;ENSP00000334886:R136C;ENSP00000413056:R165C;ENSP00000410838:R529C	ENSP00000262410:R511C	R	+	1	0	MAPT	41429625	0.993000	0.37304	0.999000	0.59377	0.829000	0.46940	3.156000	0.50708	2.651000	0.90000	0.561000	0.74099	CGC		0.682	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835	
STH	246744	broad.mit.edu	37	17	44076662	44076662	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:44076662G>A	ENST00000537309.1	+	1	47	c.17G>A	c.(16-18)gGc>gAc	p.G6D	MAPT_ENST00000262410.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000334239.8_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	6						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G6D(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						gagggtggaggccaagtctca	0.537																																					p.G6D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G17A	17						.						49.0	48.0	48.0					17																	44076662		1977	4172	6149	41432499	SO:0001583	missense	246744	exon1			AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.17G>A	17.37:g.44076662G>A	ENSP00000443168:p.Gly6Asp		41432499	NM_001007532	A1L3X7	Missense_Mutation	SNP	ENST00000537309.1	37	CCDS54136.1	.	.	.	.	.	.	.	.	.	.	G	7.911	0.736588	0.15574	.	.	ENSG00000256762	ENST00000537309	T	0.59083	0.29	1.7	-0.829	0.10796	.	.	.	.	.	T	0.43100	0.1232	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.51945	0.685	T	0.39761	-0.9598	9	0.87932	D	0	.	7.3651	0.26768	0.0:0.6071:0.3929:0.0	.	6	Q8IWL8	STH_HUMAN	D	6	ENSP00000443168:G6D	ENSP00000443168:G6D	G	+	2	0	STH	41432499	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.595000	0.05727	-0.176000	0.10707	0.491000	0.48974	GGC		0.537	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1		
EFCAB13	124989	broad.mit.edu	37	17	45452059	45452059	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:45452059A>C	ENST00000331493.2	+	12	1510	c.1099A>C	c.(1099-1101)Aga>Cga	p.R367R	EFCAB13_ENST00000517484.1_Silent_p.R271R	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	367						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TTGGCAAATAAGAAAATTTCT	0.313																																					p.R367R												.	.	0			c.A1099C	17						.						41.0	45.0	44.0					17																	45452059		2197	4297	6494	42807058	SO:0001819	synonymous_variant	124989	exon12			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1099A>C	17.37:g.45452059A>C			42807058	NM_152347	G3V128|Q49AG9	Silent	SNP	ENST00000331493.2	37	CCDS11512.1																																																																																				0.313	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
MRPL10	124995	broad.mit.edu	37	17	45904045	45904045	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:45904045T>G	ENST00000351111.2	-	4	495	c.490A>C	c.(490-492)Atg>Ctg	p.M164L	MRPL10_ENST00000414011.1_Missense_Mutation_p.M174L|MRPL10_ENST00000290208.7_Missense_Mutation_p.M174L	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	164					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.M164L(1)		endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						ATCCGTACCATCTCCTTGACC	0.572																																					p.M174L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A520C	17						.						81.0	73.0	76.0					17																	45904045		2203	4300	6503	43259044	SO:0001583	missense	124995	exon5			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.490A>C	17.37:g.45904045T>G	ENSP00000324100:p.Met164Leu		43259044	NM_148887	A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	ENST00000351111.2	37	CCDS11516.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138204	0.37728	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.38560	1.13;1.13;1.13	5.62	5.62	0.85841	.	0.034743	0.85682	D	0.000000	T	0.34658	0.0905	L	0.50333	1.59	0.53005	D	0.999968	B;B	0.24651	0.108;0.053	B;B	0.27608	0.081;0.059	T	0.15292	-1.0442	10	0.02654	T	1	-19.9816	13.3449	0.60566	0.0:0.0:0.0:1.0	.	164;174	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	L	164;174;174	ENSP00000324100:M164L;ENSP00000290208:M174L;ENSP00000395870:M174L	ENSP00000290208:M174L	M	-	1	0	MRPL10	43259044	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.371000	0.52379	2.146000	0.66826	0.459000	0.35465	ATG		0.572	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255	
TTLL6	284076	broad.mit.edu	37	17	46846526	46846526	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:46846526C>A	ENST00000393382.3	-	15	2642	c.2501G>T	c.(2500-2502)aGt>aTt	p.S834I	TTLL6_ENST00000433608.2_Missense_Mutation_p.S527I	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6									p.S512I(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTCTGAGGACTCTGCAAGAG	0.577																																					p.S834I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2501T	17						.						51.0	47.0	48.0					17																	46846526		2203	4300	6503	44201525	SO:0001583	missense	284076	exon15			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2501G>T	17.37:g.46846526C>A	ENSP00000377043:p.Ser834Ile		44201525	NM_001130918		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089707	0.36855	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	T	0.25414	1.8	5.72	-2.77	0.05877	.	.	.	.	.	T	0.19005	0.0456	L	0.36672	1.1	0.09310	N	1	B;P	0.36315	0.257;0.547	B;B	0.38616	0.062;0.277	T	0.22138	-1.0225	9	0.54805	T	0.06	.	7.1095	0.25382	0.0:0.5644:0.1128:0.3228	.	786;527	Q8N841;G5E937	TTLL6_HUMAN;.	I	834;527;512;786	ENSP00000399211:S512I	ENSP00000302547:S527I	S	-	2	0	TTLL6	44201525	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.376000	0.07465	-0.639000	0.05502	-0.219000	0.12488	AGT		0.577	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623	
ZNF652	22834	broad.mit.edu	37	17	47390127	47390127	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:47390127C>A	ENST00000362063.2	-	3	1299	c.981G>T	c.(979-981)aaG>aaT	p.K327N	ZNF652_ENST00000430262.2_Missense_Mutation_p.K327N	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K327N(2)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGAAAATTTCTTTTCTGCAT	0.363																																					p.K327N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G981T	17						.						78.0	79.0	79.0					17																	47390127		2203	4300	6503	44745126	SO:0001583	missense	22834	exon3			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.981G>T	17.37:g.47390127C>A	ENSP00000354686:p.Lys327Asn		44745126	NM_001145365	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698319	0.68386	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.35048	1.33;1.33	5.67	4.7	0.59300	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	M	0.76938	2.355	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.61357	-0.7079	10	0.87932	D	0	-21.4443	10.6194	0.45470	0.0:0.8424:0.0:0.1576	.	327	Q9Y2D9	ZN652_HUMAN	N	327	ENSP00000354686:K327N;ENSP00000416305:K327N	ENSP00000354686:K327N	K	-	3	2	ZNF652	44745126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.936000	0.56568	1.377000	0.46286	0.591000	0.81541	AAG		0.363	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897	
ZNF652	22834	broad.mit.edu	37	17	47395002	47395002	+	Missense_Mutation	SNP	C	C	T	rs573046820		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:47395002C>T	ENST00000362063.2	-	2	404	c.86G>A	c.(85-87)cGt>cAt	p.R29H	ZNF652_ENST00000430262.2_Missense_Mutation_p.R29H	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R29H(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CACTTGACCACGACGGCTATC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		21772	0.0		0.0	False		,,,				2504	0.001				p.R29H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G86A	17						.						89.0	70.0	77.0					17																	47395002		2203	4300	6503	44750001	SO:0001583	missense	22834	exon2			AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.86G>A	17.37:g.47395002C>T	ENSP00000354686:p.Arg29His		44750001	NM_001145365	A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213969	0.39102	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.99098	-5.42;-5.42	5.76	4.8	0.61643	.	0.049190	0.85682	D	0.000000	D	0.95626	0.8578	N	0.24115	0.695	0.42323	D	0.992268	B	0.15473	0.013	B	0.08055	0.003	D	0.92989	0.6413	10	0.15066	T	0.55	-7.7482	8.7551	0.34641	0.1488:0.7748:0.0:0.0764	.	29	Q9Y2D9	ZN652_HUMAN	H	29	ENSP00000354686:R29H;ENSP00000416305:R29H	ENSP00000354686:R29H	R	-	2	0	ZNF652	44750001	0.995000	0.38212	0.917000	0.36280	0.985000	0.73830	3.218000	0.51192	1.443000	0.47586	0.655000	0.94253	CGT		0.473	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897	
PDK2	5164	broad.mit.edu	37	17	48185752	48185752	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:48185752G>A	ENST00000503176.1	+	8	993	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	PDK2_ENST00000007708.3_Missense_Mutation_p.A214T	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	278	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to nutrient (GO:0031670)|cellular response to reactive oxygen species (GO:0034614)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of gluconeogenesis (GO:0006111)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.A278T(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GGTCATGGTGGCCTTGGGTGA	0.582									Autosomal Dominant Polycystic Kidney Disease																												p.A278T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G832A	17						.						78.0	64.0	69.0					17																	48185752		2203	4300	6503	45540751	SO:0001583	missense	5164	exon8	Familial Cancer Database	ADPKD	L42451	CCDS11559.1, CCDS56039.1	17q21.33	2012-07-18	2005-11-16		ENSG00000005882	ENSG00000005882			8810	protein-coding gene	gene with protein product		602525	"""pyruvate dehydrogenase kinase, isoenzyme 2"""			7499431	Standard	NM_001199898		Approved	PDHK2	uc002iqc.3	Q15119	OTTHUMG00000161948	ENST00000503176.1:c.832G>A	17.37:g.48185752G>A	ENSP00000420927:p.Ala278Thr		45540751	NM_002611	A8K3A7|B3KNW0|Q6P515|Q9BS05	Missense_Mutation	SNP	ENST00000503176.1	37	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	G	7.145	0.582547	0.13749	.	.	ENSG00000005882	ENST00000007708;ENST00000503176;ENST00000503614	T;T;T	0.54479	0.57;0.57;0.57	4.61	4.61	0.57282	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.200215	0.41396	D	0.000897	T	0.33962	0.0881	N	0.16862	0.45	0.42249	D	0.991967	B	0.10296	0.003	B	0.12837	0.008	T	0.22452	-1.0216	10	0.02654	T	1	-21.9528	16.633	0.85039	0.0:0.0:1.0:0.0	.	278	Q15119	PDK2_HUMAN	T	214;278;214	ENSP00000007708:A214T;ENSP00000420927:A278T;ENSP00000425265:A214T	ENSP00000007708:A214T	A	+	1	0	PDK2	45540751	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.935000	0.48963	2.289000	0.77006	0.555000	0.69702	GCC		0.582	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	NM_002611	
COL1A1	1277	broad.mit.edu	37	17	48266839	48266839	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:48266839G>A	ENST00000225964.5	-	39	2846	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	910	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R910C(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GTCTCACCACGGGGACCTTTG	0.652			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.R910C			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2728T	17						.						50.0	55.0	53.0					17																	48266839		2203	4300	6503	45621838	SO:0001583	missense	1277	exon39			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2728C>T	17.37:g.48266839G>A	ENSP00000225964:p.Arg910Cys		45621838	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027580	0.75390	.	.	ENSG00000108821	ENST00000225964	D	0.96168	-3.93	4.64	4.64	0.57946	.	0.132889	0.51477	D	0.000083	D	0.97692	0.9243	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98483	1.0606	10	0.87932	D	0	.	16.4255	0.83813	0.0:0.0:1.0:0.0	.	910	P02452	CO1A1_HUMAN	C	910	ENSP00000225964:R910C	ENSP00000225964:R910C	R	-	1	0	COL1A1	45621838	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.579000	0.98204	2.433000	0.82419	0.305000	0.20034	CGT		0.652	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
COL1A1	1277	broad.mit.edu	37	17	48275322	48275322	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:48275322C>T	ENST00000225964.5	-	8	748	c.630G>A	c.(628-630)gaG>gaA	p.E210E		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	210	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.E210E(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	AAGCTCCAGGCTCGCCAGGCT	0.502			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E210E			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G630A	17						.						44.0	51.0	48.0					17																	48275322		2202	4298	6500	45630321	SO:0001819	synonymous_variant	1277	exon8			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.630G>A	17.37:g.48275322C>T		953	45630321	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																				0.502	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
COL1A1	1277	broad.mit.edu	37	17	48277166	48277166	+	Silent	SNP	G	G	T	rs72667010		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:48277166G>T	ENST00000225964.5	-	2	364	c.246C>A	c.(244-246)ccC>ccA	p.P82P		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	82	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CTTCGGCGCCGGGGCAGTTCT	0.701			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.P82P			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	0			c.C246A	17	GRCh37	CD042191	COL1A1	D	rs72667010	.						101.0	101.0	101.0					17																	48277166		2203	4300	6503	45632165	SO:0001819	synonymous_variant	1277	exon2			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.246C>A	17.37:g.48277166G>T			45632165	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	CCDS11561.1																																																																																				0.701	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
KIF1C	10749	broad.mit.edu	37	17	4910316	4910316	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:4910316G>A	ENST00000320785.5	+	14	1629	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	424					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.E424E(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGGAGCTGGAGCCGTCATTCT	0.622																																					p.E424E	Melanoma(96;1023 1447 10250 19259 33730)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1272A	17						.						69.0	71.0	70.0					17																	4910316		2203	4300	6503	4851040	SO:0001819	synonymous_variant	10749	exon14			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1272G>A	17.37:g.4910316G>A			4851040	NM_006612	D3DTL6|O75186|Q5U618	Silent	SNP	ENST00000320785.5	37	CCDS11065.1																																																																																				0.622	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1		
USP6	9098	broad.mit.edu	37	17	5048806	5048806	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:5048806G>A	ENST00000574788.1	+	27	4329	c.2099G>A	c.(2098-2100)cGa>cAa	p.R700Q	USP6_ENST00000332776.4_Missense_Mutation_p.R700Q|USP6_ENST00000304328.5_Missense_Mutation_p.R383Q|USP6_ENST00000250066.6_Missense_Mutation_p.R700Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	700	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.R700Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATAAGTGTCCGATTTGACCCT	0.368			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																p.R700Q			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2099A	17						.						108.0	98.0	101.0					17																	5048806		2203	4300	6503	4989530	SO:0001583	missense	9098	exon19			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2099G>A	17.37:g.5048806G>A	ENSP00000460380:p.Arg700Gln		4989530	NM_004505	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353952	0.61293	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.32515	1.45;4.03;4.03	2.36	1.36	0.22044	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053232	0.64402	N	0.000001	T	0.46718	0.1407	M	0.66506	2.035	0.49915	D	0.999833	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.973	T	0.35871	-0.9771	10	0.62326	D	0.03	.	7.1783	0.25757	0.1491:0.0:0.8509:0.0	.	383;700	P35125-2;P35125	.;UBP6_HUMAN	Q	700;700;383	ENSP00000328010:R700Q;ENSP00000250066:R700Q;ENSP00000305473:R383Q	ENSP00000250066:R700Q	R	+	2	0	USP6	4989530	1.000000	0.71417	0.989000	0.46669	0.597000	0.36814	7.656000	0.83736	0.328000	0.23435	-1.111000	0.02071	CGA		0.368	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
RABEP1	9135	broad.mit.edu	37	17	5238487	5238487	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:5238487C>T	ENST00000546142.2	+	4	563	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	RABEP1_ENST00000262477.6_Missense_Mutation_p.R126C|RABEP1_ENST00000537505.1_Missense_Mutation_p.R83C|RABEP1_ENST00000408982.2_Missense_Mutation_p.R126C|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000341923.6_Missense_Mutation_p.R126C			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	126					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)	p.R126C(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGAAACAGTTCGTGACTATGA	0.378																																					p.R126C												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C376T	17						.						72.0	66.0	67.0					17																	5238487		1876	4110	5986	5179211	SO:0001583	missense	9135	exon4			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.376C>T	17.37:g.5238487C>T	ENSP00000437701:p.Arg126Cys		5179211	NM_001083585	B2RAG7|O95369|Q8IVX3	Missense_Mutation	SNP	ENST00000546142.2	37	CCDS45592.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831476	0.50845	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	T;T;T;T;T	0.50001	0.76;0.77;0.76;0.77;0.81	5.92	4.95	0.65309	Rabaptin coiled-coil domain (1);	0.099413	0.64402	D	0.000001	T	0.39332	0.1074	L	0.33485	1.01	0.80722	D	1	B;B;B;B;B;B	0.18610	0.023;0.029;0.029;0.029;0.023;0.023	B;B;B;B;B;B	0.17098	0.01;0.017;0.017;0.017;0.01;0.01	T	0.23726	-1.0180	10	0.59425	D	0.04	-2.4868	14.0384	0.64660	0.0:0.9281:0.0:0.0719	.	83;83;126;126;126;126	F5H355;B4DMM4;Q05BX6;Q15276;Q15276-2;F5GZU7	.;.;.;RABE1_HUMAN;.;.	C	126;126;126;126;126;83	ENSP00000262477:R126C;ENSP00000386150:R126C;ENSP00000437701:R126C;ENSP00000339569:R126C;ENSP00000445408:R83C	ENSP00000262477:R126C	R	+	1	0	RABEP1	5179211	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.533000	0.67160	1.507000	0.48752	0.655000	0.94253	CGT		0.378	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439349.1	NM_004703	
NME1	4830	broad.mit.edu	37	17	49238549	49238549	+	Missense_Mutation	SNP	C	C	T	rs138270461	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:49238549C>T	ENST00000393196.3	+	4	388	c.257C>T	c.(256-258)aCg>aTg	p.T86M	NME1_ENST00000511355.1_3'UTR|NME2_ENST00000376392.6_Missense_Mutation_p.T86M|NME2_ENST00000555572.1_Missense_Mutation_p.T111M|NME1_ENST00000480143.1_Missense_Mutation_p.T111M|NME1-NME2_ENST00000393198.3_Missense_Mutation_p.T86M|NME2_ENST00000393193.2_Missense_Mutation_p.T86M|NME1-NME2_ENST00000608447.1_Missense_Mutation_p.T111M|NME1_ENST00000013034.3_Missense_Mutation_p.T111M|NME1_ENST00000336097.3_Missense_Mutation_p.T111M	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	86					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)	p.T111M(1)|p.T86M(1)		endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	GTGGTGAAGACGGGCCGAGTC	0.498													C|||	7	0.00139776	0.0053	0.0	5008	,	,		17533	0.0		0.0	False		,,,				2504	0.0				p.T86M	GBM(176;1298 2890 6639 30062)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C257T	17						.	C	MET/THR,MET/THR,MET/THR	4,4402	8.1+/-20.4	0,4,2199	65.0	61.0	63.0		257,257,332	5.3	1.0	17	dbSNP_134	63	0,8600		0,0,4300	yes	missense,missense,missense	NME1,NME1-NME2	NM_000269.2,NM_001018136.2,NM_198175.1	81,81,81	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging,probably-damaging,probably-damaging	86/153,86/268,111/178	49238549	4,13002	2203	4300	6503	46593548	SO:0001583	missense	654364	exon4			AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.257C>T	17.37:g.49238549C>T	ENSP00000376892:p.Thr86Met		46593548	NM_000269	Q6FGK3|Q86XQ2|Q9UDJ6	Missense_Mutation	SNP	ENST00000393196.3	37	CCDS11579.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	29.6	5.017399	0.93404	9.08E-4	0.0	ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000239672;ENSG00000011052;ENSG00000011052;ENSG00000243678;ENSG00000243678	ENST00000393196;ENST00000336097;ENST00000480143;ENST00000013034;ENST00000376392;ENST00000555572;ENST00000393193;ENST00000393198	T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.34	5.34	0.76211	.	0.608294	0.11777	U	0.530492	T	0.68339	0.2990	M	0.70595	2.14	0.53688	D	0.999979	D;D;D	0.89917	1.0;0.999;0.999	D;P;P	0.97110	1.0;0.889;0.882	T	0.70117	-0.4960	10	0.54805	T	0.06	-3.3689	19.3925	0.94590	0.0:1.0:0.0:0.0	.	111;86;111	Q32Q12;P15531;P15531-2	.;NDKA_HUMAN;.	M	86;111;111;111;86;111;86;111	ENSP00000376892:T86M;ENSP00000337060:T111M;ENSP00000429318:T111M;ENSP00000013034:T111M;ENSP00000365572:T86M;ENSP00000451932:T111M;ENSP00000376889:T86M	ENSP00000013034:T111M	T	+	2	0	NME2;NME1-NME2;NME1	46593548	0.998000	0.40836	1.000000	0.80357	0.969000	0.65631	3.951000	0.56684	2.662000	0.90505	0.561000	0.74099	ACG		0.498	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269	
ANKFN1	162282	broad.mit.edu	37	17	54535324	54535324	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:54535324C>A	ENST00000318698.2	+	13	1585	c.1550C>A	c.(1549-1551)gCa>gAa	p.A517E	ANKFN1_ENST00000566473.2_Missense_Mutation_p.A517E	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	517								p.A517E(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATGCTCGCAGCAACAGCACAG	0.463																																					p.A517E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1550A	17						.						85.0	71.0	75.0					17																	54535324		2203	4300	6503	51890323	SO:0001583	missense	162282	exon13			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1550C>A	17.37:g.54535324C>A	ENSP00000321627:p.Ala517Glu		51890323	NM_153228		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960420	0.74016	.	.	ENSG00000153930	ENST00000318698	T	0.36878	1.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.66408	-0.5931	10	0.87932	D	0	-13.9919	20.8794	0.99867	0.0:1.0:0.0:0.0	.	517	Q8N957	ANKF1_HUMAN	E	517	ENSP00000321627:A517E	ENSP00000321627:A517E	A	+	2	0	ANKFN1	51890323	1.000000	0.71417	1.000000	0.80357	0.573000	0.36030	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCA		0.463	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	
MIS12	79003	broad.mit.edu	37	17	5392576	5392576	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:5392576T>G	ENST00000381165.3	+	3	947	c.394T>G	c.(394-396)Tta>Gta	p.L132V	MIS12_ENST00000573759.1_Missense_Mutation_p.L132V|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component									p.L132V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						CAAGACTGAATTATGTACTAA	0.378																																					p.L132V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T394G	17						.						110.0	107.0	108.0					17																	5392576		2203	4300	6503	5333300	SO:0001583	missense	79003	exon3			AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.394T>G	17.37:g.5392576T>G	ENSP00000370557:p.Leu132Val		5333300	NM_024039		Missense_Mutation	SNP	ENST00000381165.3	37	CCDS11074.1	.	.	.	.	.	.	.	.	.	.	T	2.608	-0.291513	0.05568	.	.	ENSG00000167842	ENST00000381165	T	0.42513	0.97	6.08	1.69	0.24217	.	0.430922	0.24282	N	0.039896	T	0.12561	0.0305	N	0.03050	-0.425	0.09310	N	1	B	0.15141	0.012	B	0.17722	0.019	T	0.32771	-0.9894	10	0.02654	T	1	-1.9006	3.5955	0.08005	0.1152:0.0791:0.4126:0.3931	.	132	Q9H081	MIS12_HUMAN	V	132	ENSP00000370557:L132V	ENSP00000370557:L132V	L	+	1	2	MIS12	5333300	0.217000	0.23597	0.744000	0.31058	0.974000	0.67602	0.868000	0.27982	1.101000	0.41535	0.482000	0.46254	TTA		0.378	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039	
MIS12	79003	broad.mit.edu	37	17	5392784	5392784	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:5392784G>A	ENST00000381165.3	+	3	1155	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	MIS12_ENST00000573759.1_Missense_Mutation_p.R201Q|DERL2_ENST00000571968.1_5'Flank	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1			MIS12 kinetochore complex component									p.R201Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						GAATCGAAACGACTGAAAATA	0.383																																					p.R201Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G602A	17						.						61.0	62.0	62.0					17																	5392784		2202	4299	6501	5333508	SO:0001583	missense	79003	exon3			AL136906	CCDS11074.1	17p13.3	2013-07-03	2013-07-03		ENSG00000167842	ENSG00000167842			24967	protein-coding gene	gene with protein product		609178	"""MIS12, MIND kinetochore complex component, homolog (yeast)"", ""MIS12, MIND kinetochore complex component, homolog (S. pombe)"""			11230166, 12515822	Standard	NM_001258217		Approved	MGC2488, hMIS12, KNTC2AP, MTW1	uc031qyj.1	Q9H081	OTTHUMG00000102042	ENST00000381165.3:c.602G>A	17.37:g.5392784G>A	ENSP00000370557:p.Arg201Gln		5333508	NM_024039		Missense_Mutation	SNP	ENST00000381165.3	37	CCDS11074.1	.	.	.	.	.	.	.	.	.	.	G	9.785	1.176309	0.21704	.	.	ENSG00000167842	ENST00000381165	T	0.50548	0.74	4.84	-0.967	0.10316	.	0.715833	0.14395	N	0.322300	T	0.38241	0.1033	L	0.54323	1.7	0.09310	N	1	B	0.27971	0.196	B	0.19666	0.026	T	0.27088	-1.0084	10	0.52906	T	0.07	-13.7923	10.1379	0.42717	0.7014:0.0:0.2986:0.0	.	201	Q9H081	MIS12_HUMAN	Q	201	ENSP00000370557:R201Q	ENSP00000370557:R201Q	R	+	2	0	MIS12	5333508	0.034000	0.19679	0.020000	0.16555	0.058000	0.15608	0.263000	0.18478	-0.200000	0.10300	0.591000	0.81541	CGA		0.383	MIS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219827.1	NM_024039	
ANKFN1	162282	broad.mit.edu	37	17	54543723	54543723	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:54543723C>T	ENST00000318698.2	+	14	1608	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	ANKFN1_ENST00000566473.2_Missense_Mutation_p.L525F	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	525								p.L525F(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCAGAATTTACTTGGGACACA	0.398																																					p.L525F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1573T	17						.						112.0	103.0	106.0					17																	54543723		2203	4300	6503	51898722	SO:0001583	missense	162282	exon14			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1573C>T	17.37:g.54543723C>T	ENSP00000321627:p.Leu525Phe		51898722	NM_153228		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131768	0.77662	.	.	ENSG00000153930	ENST00000318698	T	0.51071	0.72	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71593	-0.4546	10	0.56958	D	0.05	-10.7642	19.8199	0.96589	0.0:1.0:0.0:0.0	.	525	Q8N957	ANKF1_HUMAN	F	525	ENSP00000321627:L525F	ENSP00000321627:L525F	L	+	1	0	ANKFN1	51898722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.776000	0.68924	2.677000	0.91161	0.655000	0.94253	CTT		0.398	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228	
OR4D1	26689	broad.mit.edu	37	17	56232616	56232616	+	Silent	SNP	C	C	A	rs373558742		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:56232616C>A	ENST00000268912.5	+	1	123	c.102C>A	c.(100-102)gtC>gtA	p.V34V		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	34					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V34V(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCTGTTAGTCTATGTTACCA	0.463																																					p.V34V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C102A	17						.	C		0,4060		0,0,2030	149.0	147.0	148.0		102	3.6	0.6	17		148	1,8417		0,1,4208	no	coding-synonymous	OR4D1	NM_012374.1		0,1,6238	AA,AC,CC		0.0119,0.0,0.0080		34/311	56232616	1,12477	2030	4209	6239	53587615	SO:0001819	synonymous_variant	26689	exon1			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.102C>A	17.37:g.56232616C>A			53587615	NM_012374	B2RN14|Q8NGB1|Q96R76	Silent	SNP	ENST00000268912.5	37	CCDS42365.1																																																																																				0.463	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1		
OR4D1	26689	broad.mit.edu	37	17	56233261	56233261	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:56233261G>T	ENST00000268912.5	+	1	768	c.747G>T	c.(745-747)atG>atT	p.M249I		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	249					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M249I(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGGTGTCCATGATCTTCATTC	0.522																																					p.M249I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G747T	17						.						106.0	97.0	100.0					17																	56233261		2203	4300	6503	53588260	SO:0001583	missense	26689	exon1			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.747G>T	17.37:g.56233261G>T	ENSP00000365451:p.Met249Ile		53588260	NM_012374	B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	g	10.91	1.483367	0.26598	.	.	ENSG00000141194	ENST00000268912	T	0.00027	8.93	5.63	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.169687	0.43260	D	0.000591	T	0.00073	0.0002	N	0.00873	-1.125	0.25046	N	0.991168	B	0.18741	0.03	B	0.28553	0.091	T	0.23833	-1.0177	10	0.52906	T	0.07	-23.0474	11.6204	0.51115	0.0:0.0:0.6769:0.3231	.	249	Q15615	OR4D1_HUMAN	I	249	ENSP00000365451:M249I	ENSP00000365451:M249I	M	+	3	0	OR4D1	53588260	0.802000	0.28943	0.996000	0.52242	0.601000	0.36947	1.210000	0.32370	1.354000	0.45846	0.543000	0.68304	ATG		0.522	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1		
OR4D2	124538	broad.mit.edu	37	17	56247577	56247577	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:56247577T>C	ENST00000545221.1	+	1	561	c.561T>C	c.(559-561)ctT>ctC	p.L187L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L187L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TACTGAGACTTGCCTGCACTG	0.512																																					p.L187L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T561C	17						.						176.0	149.0	158.0					17																	56247577		2203	4300	6503	53602576	SO:0001819	synonymous_variant	124538	exon1				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.561T>C	17.37:g.56247577T>C			53602576	NM_001004707	Q6IFN8|Q96R75	Silent	SNP	ENST00000545221.1	37	CCDS32688.1																																																																																				0.512	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1		
EPX	8288	broad.mit.edu	37	17	56270749	56270749	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:56270749G>A	ENST00000225371.5	+	3	298	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	63					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R63H(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	CAGCGGCTTCGCAGCGGTTCA	0.612																																					p.R63H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G188A	17						.						95.0	95.0	95.0					17																	56270749		2203	4300	6503	53625748	SO:0001583	missense	8288	exon3			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.188G>A	17.37:g.56270749G>A	ENSP00000225371:p.Arg63His		53625748	NM_000502	Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513668	0.27123	.	.	ENSG00000121053	ENST00000225371	T	0.71103	-0.54	4.86	-6.89	0.01660	.	1.143690	0.06082	N	0.662044	T	0.59321	0.2185	L	0.61387	1.9	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.50915	-0.8771	10	0.52906	T	0.07	-2.2677	3.4732	0.07575	0.4946:0.108:0.2882:0.1092	.	63	P11678	PERE_HUMAN	H	63	ENSP00000225371:R63H	ENSP00000225371:R63H	R	+	2	0	EPX	53625748	0.000000	0.05858	0.015000	0.15790	0.419000	0.31324	-0.761000	0.04751	-1.086000	0.03084	0.549000	0.68633	CGC		0.612	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
EPX	8288	broad.mit.edu	37	17	56274482	56274482	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:56274482G>A	ENST00000225371.5	+	7	1094	c.984G>A	c.(982-984)cgG>cgA	p.R328R		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	328					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R328R(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TCCGCAACCGGACCAACTACC	0.617																																					p.R328R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G984A	17						.						115.0	109.0	111.0					17																	56274482		2203	4300	6503	53629481	SO:0001819	synonymous_variant	8288	exon7			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.984G>A	17.37:g.56274482G>A			53629481	NM_000502	Q4TVP3	Silent	SNP	ENST00000225371.5	37	CCDS11602.1																																																																																				0.617	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
NLRP1	22861	broad.mit.edu	37	17	5461750	5461750	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:5461750A>C	ENST00000572272.1	-	4	2265	c.2266T>G	c.(2266-2268)Ttc>Gtc	p.F756V	NLRP1_ENST00000345221.3_Missense_Mutation_p.F756V|NLRP1_ENST00000577119.1_Missense_Mutation_p.F756V|NLRP1_ENST00000262467.5_Missense_Mutation_p.F756V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.F756V|NLRP1_ENST00000354411.3_Missense_Mutation_p.F756V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	756					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.F756V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTAATGCAGAAAGTGCACACT	0.498																																					p.F756V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2266G	17						.						102.0	101.0	101.0					17																	5461750		2203	4300	6503	5402474	SO:0001583	missense	22861	exon4			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2266T>G	17.37:g.5461750A>C	ENSP00000460475:p.Phe756Val		5402474	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.490585	0.84962	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.02	4.02	0.46733	.	0.000000	0.42420	D	0.000716	T	0.68339	0.2990	M	0.85197	2.74	0.31660	N	0.645655	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.993;0.999;0.998	T	0.74206	-0.3740	10	0.72032	D	0.01	.	9.6835	0.40085	1.0:0.0:0.0:0.0	.	22;756;756;756;756;756	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	V	756;756;756;756;756;22	ENSP00000442029:F756V;ENSP00000262467:F756V;ENSP00000269280:F756V;ENSP00000346390:F756V;ENSP00000324366:F756V	ENSP00000262467:F756V	F	-	1	0	NLRP1	5402474	0.995000	0.38212	0.947000	0.38551	0.592000	0.36648	4.399000	0.59703	2.066000	0.61787	0.529000	0.55759	TTC		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
C17orf47	284083	broad.mit.edu	37	17	56620915	56620915	+	Silent	SNP	C	C	T	rs139661038		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:56620915C>T	ENST00000321691.3	-	1	814	c.633G>A	c.(631-633)acG>acA	p.T211T	SEPT4_ENST00000457347.2_5'Flank|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	211								p.T211T(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACTAGTAGTCGTAATTCTTT	0.512																																					p.T211T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G633A	17						.	C		1,4405	2.1+/-5.4	0,1,2202	109.0	112.0	111.0		633	0.6	0.0	17	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	C17orf47	NM_001038704.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		211/571	56620915	1,13005	2203	4300	6503	53975914	SO:0001819	synonymous_variant	284083	exon1				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.633G>A	17.37:g.56620915C>T			53975914	NM_001038704	Q8N821	Silent	SNP	ENST00000321691.3	37	CCDS32691.1																																																																																				0.512	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704	
TRIM37	4591	broad.mit.edu	37	17	57153052	57153052	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:57153052C>A	ENST00000262294.7	-	8	899	c.640G>T	c.(640-642)Gaa>Taa	p.E214*	TRIM37_ENST00000376149.3_Nonsense_Mutation_p.E92*|TRIM37_ENST00000393066.3_Nonsense_Mutation_p.E214*|TRIM37_ENST00000393065.2_Nonsense_Mutation_p.E180*	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	214					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E214*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGCTCTGTTTCTTGGGTTAGA	0.338									Mulibrey Nanism																												p.E214X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G640T	17						.						95.0	90.0	91.0					17																	57153052		2203	4300	6503	54507834	SO:0001587	stop_gained	4591	exon8	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.640G>T	17.37:g.57153052C>A	ENSP00000262294:p.Glu214*		54507834	NM_001005207	Q7Z3E6|Q8IYF7|Q8WYF7	Nonsense_Mutation	SNP	ENST00000262294.7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273332	0.59649	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-17.5692	18.154	0.89686	0.0:1.0:0.0:0.0	.	.	.	.	X	214;214;92;180	.	ENSP00000262294:E214X	E	-	1	0	TRIM37	54507834	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.630000	0.83225	2.526000	0.85167	0.585000	0.79938	GAA		0.338	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	
SMG8	55181	broad.mit.edu	37	17	57290667	57290667	+	Missense_Mutation	SNP	G	G	A	rs151326790		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:57290667G>A	ENST00000543872.2	+	4	2747	c.2483G>A	c.(2482-2484)aGa>aAa	p.R828K	SMG8_ENST00000300917.5_Missense_Mutation_p.R828K|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	828					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)		p.R828K(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCTGGAAAGAGAAGTGCGGTT	0.468																																					p.R828K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2483A	17						.	G	LYS/ARG	0,4406		0,0,2203	162.0	157.0	158.0		2483	6.0	1.0	17	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense	SMG8	NM_018149.6	26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	828/992	57290667	1,13005	2203	4300	6503	54645449	SO:0001583	missense	55181	exon3			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2483G>A	17.37:g.57290667G>A	ENSP00000438748:p.Arg828Lys		54645449	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329829	0.60743	0.0	1.16E-4	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.40225	1.04;1.04	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.37183	0.0994	L	0.36672	1.1	0.54753	D	0.999981	P	0.42785	0.79	B	0.40565	0.333	T	0.04915	-1.0918	10	0.16896	T	0.51	-21.6032	19.3889	0.94570	0.0:0.0:1.0:0.0	.	828	Q8ND04	SMG8_HUMAN	K	828	ENSP00000300917:R828K;ENSP00000438748:R828K	ENSP00000300917:R828K	R	+	2	0	SMG8	54645449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	AGA		0.468	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
CLTC	1213	broad.mit.edu	37	17	57759017	57759017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:57759017G>T	ENST00000269122.3	+	21	3533	c.3259G>T	c.(3259-3261)Gag>Tag	p.E1087*	CLTC_ENST00000393043.1_Nonsense_Mutation_p.E1087*|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1087	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.E1087*(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGTCTTAATTGAGCATATTGG	0.388			T	"""ALK, TFE3"""	"""ALCL, renal """																																p.E1087X			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3259T	17						.						98.0	95.0	96.0					17																	57759017		2203	4300	6503	55113799	SO:0001587	stop_gained	1213	exon21			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3259G>T	17.37:g.57759017G>T	ENSP00000269122:p.Glu1087*		55113799	NM_004859	D3DU00|Q6N0A0|Q86TF2	Nonsense_Mutation	SNP	ENST00000269122.3	37	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	43	10.349877	0.99389	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	1087	.	ENSP00000269122:E1087X	E	+	1	0	CLTC	55113799	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	GAG		0.388	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859	
VMP1	81671	broad.mit.edu	37	17	57812772	57812772	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:57812772G>A	ENST00000262291.4	+	3	460	c.150G>A	c.(148-150)ccG>ccA	p.P50P	VMP1_ENST00000545362.1_Silent_p.P50P|VMP1_ENST00000539763.1_Intron|VMP1_ENST00000537567.1_5'UTR|VMP1_ENST00000536180.1_5'UTR	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	50					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)		p.P50P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						GGAGACAGCCGCTCATTACCT	0.423																																					p.P50P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G150A	17						.						112.0	98.0	103.0					17																	57812772		2203	4300	6503	55167554	SO:0001819	synonymous_variant	81671	exon3				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.150G>A	17.37:g.57812772G>A			55167554	NM_030938	B4DVV9|Q9H0P4|Q9P089	Silent	SNP	ENST00000262291.4	37	CCDS11619.1																																																																																				0.423	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938	
RNFT1	51136	broad.mit.edu	37	17	58039939	58039939	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:58039939A>G	ENST00000305783.8	-	3	608	c.553T>C	c.(553-555)Tat>Cat	p.Y185H	RP11-178C3.2_ENST00000586209.1_lincRNA|RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	185						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Y148H(1)		large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TTGTTTGCATACATAAAAGTT	0.274																																					p.Y185H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T553C	17						.						44.0	51.0	48.0					17																	58039939		2196	4264	6460	55394721	SO:0001583	missense	51136	exon3			BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.553T>C	17.37:g.58039939A>G	ENSP00000304670:p.Tyr185His		55394721	NM_016125	Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	ENST00000305783.8	37	CCDS11622.2	.	.	.	.	.	.	.	.	.	.	A	19.07	3.754990	0.69648	.	.	ENSG00000189050	ENST00000305783	T	0.48201	0.82	5.54	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	N	0.24115	0.695	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.89	D;D;B	0.74348	0.971;0.983;0.286	T	0.40869	-0.9540	10	0.22706	T	0.39	-7.6843	12.797	0.57564	0.8632:0.1368:0.0:0.0	.	185;185;185	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	H	185	ENSP00000304670:Y185H	ENSP00000304670:Y185H	Y	-	1	0	RNFT1	55394721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.951000	0.87819	0.899000	0.36444	0.482000	0.46254	TAT		0.274	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125	
HEATR6	63897	broad.mit.edu	37	17	58125680	58125680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:58125680G>A	ENST00000184956.6	-	17	2633	c.2617C>T	c.(2617-2619)Cga>Tga	p.R873*	HEATR6_ENST00000585976.1_Nonsense_Mutation_p.R761*	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	873							poly(A) RNA binding (GO:0044822)	p.R873*(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GCTTTGGCTCGAACATTCAGA	0.453																																					p.R873X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2617T	17						.						144.0	100.0	115.0					17																	58125680		2203	4300	6503	55480462	SO:0001587	stop_gained	63897	exon17			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2617C>T	17.37:g.58125680G>A	ENSP00000184956:p.Arg873*		55480462	NM_022070	B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Nonsense_Mutation	SNP	ENST00000184956.6	37	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	40	8.072810	0.98640	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6702	19.3079	0.94171	0.0:0.0:1.0:0.0	.	.	.	.	X	873;608	.	ENSP00000184956:R873X	R	-	1	2	HEATR6	55480462	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.282000	0.78630	2.890000	0.99128	0.585000	0.79938	CGA		0.453	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070	
APPBP2	10513	broad.mit.edu	37	17	58525148	58525148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:58525148G>A	ENST00000083182.3	-	13	1839	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	518					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.R518*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATGAGACCTCGATAATCATAT	0.348																																					p.R518X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1552T	17						.						83.0	83.0	83.0					17																	58525148		2203	4300	6503	55879930	SO:0001587	stop_gained	10513	exon13			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1552C>T	17.37:g.58525148G>A	ENSP00000083182:p.Arg518*		55879930	NM_006380	A8K862|O95095|Q8WVC9	Nonsense_Mutation	SNP	ENST00000083182.3	37	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	G	37	6.310780	0.97462	.	.	ENSG00000062725	ENST00000083182	.	.	.	5.78	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8433	14.9813	0.71313	0.0:0.0:0.7826:0.2174	.	.	.	.	X	518	.	ENSP00000083182:R518X	R	-	1	2	APPBP2	55879930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.487000	0.35540	2.730000	0.93505	0.655000	0.94253	CGA		0.348	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380	
TBX4	9496	broad.mit.edu	37	17	59557455	59557455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:59557455G>T	ENST00000240335.1	+	7	841	c.796G>T	c.(796-798)Gaa>Taa	p.E266*	TBX4_ENST00000393853.4_Nonsense_Mutation_p.E266*|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	266					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E266*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTTCAGCAAAGAATACCCCGT	0.612																																					p.E266X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G796T	17						.						68.0	73.0	71.0					17																	59557455		2203	4300	6503	56912237	SO:0001587	stop_gained	9496	exon7			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.796G>T	17.37:g.59557455G>T	ENSP00000240335:p.Glu266*		56912237	NM_018488	A5PKU7|B2RMT1|B7ZLV3	Nonsense_Mutation	SNP	ENST00000240335.1	37	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	36	5.947092	0.97134	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	.	.	.	5.34	5.34	0.76211	.	0.224299	0.46442	D	0.000289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.025	0.89266	0.0:0.0:1.0:0.0	.	.	.	.	X	266	.	.	E	+	1	0	TBX4	56912237	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.321000	0.96353	2.504000	0.84457	0.561000	0.74099	GAA		0.612	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488	
BRIP1	83990	broad.mit.edu	37	17	59857686	59857686	+	Missense_Mutation	SNP	G	G	A	rs587781321		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:59857686G>A	ENST00000259008.2	-	13	2138	c.1871C>T	c.(1870-1872)tCg>tTg	p.S624L	BRIP1_ENST00000583837.1_5'Flank|BRIP1_ENST00000577598.1_Missense_Mutation_p.S624L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	624					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)	p.S624L(2)		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						AAGTTCTGACGAAAAGGATTT	0.333			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																													p.S624L		yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C1871T	17						.						90.0	93.0	92.0					17																	59857686		2203	4300	6503	57212468	SO:0001583	missense	83990	exon13			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.1871C>T	17.37:g.59857686G>A	ENSP00000259008:p.Ser624Leu		57212468	NM_032043	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	32	5.135194	0.94517	.	.	ENSG00000136492	ENST00000259008	T	0.21932	1.98	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.56402	-0.7985	9	.	.	.	-10.797	18.483	0.90819	0.0:0.0:1.0:0.0	.	624;624	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	L	624	ENSP00000259008:S624L	.	S	-	2	0	BRIP1	57212468	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.850000	0.92190	2.615000	0.88500	0.655000	0.94253	TCG		0.333	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
MED13	9969	broad.mit.edu	37	17	60072620	60072620	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:60072620C>A	ENST00000397786.2	-	10	2150	c.2074G>T	c.(2074-2076)Gaa>Taa	p.E692*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	692					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E692*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTTAGGTTCTTGTTCTGCA	0.333																																					p.E692X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2074T	17						.						201.0	174.0	182.0					17																	60072620		1841	4087	5928	57427402	SO:0001587	stop_gained	9969	exon10			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2074G>T	17.37:g.60072620C>A	ENSP00000380888:p.Glu692*		57427402	NM_005121	B2RU05|O60334	Nonsense_Mutation	SNP	ENST00000397786.2	37	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	39	7.678643	0.98428	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-20.4708	19.3563	0.94416	0.0:1.0:0.0:0.0	.	.	.	.	X	692;691	.	ENSP00000262436:E691X	E	-	1	0	MED13	57427402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.698000	0.74608	2.648000	0.89879	0.557000	0.71058	GAA		0.333	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
TANC2	26115	broad.mit.edu	37	17	61466108	61466108	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:61466108C>A	ENST00000424789.2	+	14	2586	c.2582C>A	c.(2581-2583)cCa>cAa	p.P861Q	TANC2_ENST00000389520.4_Missense_Mutation_p.P861Q|RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	861					in utero embryonic development (GO:0001701)			p.P861Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCTACACTCCAAATATAAAG	0.328																																					p.P861Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2582A	17						.						39.0	33.0	35.0					17																	61466108		1802	4061	5863	58819840	SO:0001583	missense	26115	exon14			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2582C>A	17.37:g.61466108C>A	ENSP00000387593:p.Pro861Gln		58819840	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599145	0.87055	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.69306	-0.38;-0.39	5.75	5.75	0.90469	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	N	0.25647	0.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.76629	-0.2889	10	0.62326	D	0.03	.	19.9434	0.97174	0.0:1.0:0.0:0.0	.	861;771;861	Q9HCD6-2;D3DU10;Q9HCD6	.;.;TANC2_HUMAN	Q	861	ENSP00000374171:P861Q;ENSP00000387593:P861Q	ENSP00000374171:P861Q	P	+	2	0	TANC2	58819840	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.776000	0.85560	2.710000	0.92621	0.563000	0.77884	CCA		0.328	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
TANC2	26115	broad.mit.edu	37	17	61497576	61497576	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:61497576C>T	ENST00000424789.2	+	25	4237	c.4233C>T	c.(4231-4233)ttC>ttT	p.F1411F	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.F1421F	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1411					in utero embryonic development (GO:0001701)			p.F1421F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGGATATATTCGAGGAGGAGT	0.582																																					p.F1411F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4233T	17						.						44.0	50.0	48.0					17																	61497576		2147	4281	6428	58851308	SO:0001819	synonymous_variant	26115	exon25			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4233C>T	17.37:g.61497576C>T			58851308	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	CCDS45754.1																																																																																				0.582	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
TANC2	26115	broad.mit.edu	37	17	61499298	61499298	+	Silent	SNP	C	C	T	rs371666530		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:61499298C>T	ENST00000424789.2	+	25	5959	c.5955C>T	c.(5953-5955)ttC>ttT	p.F1985F	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.F1995F	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1985					in utero embryonic development (GO:0001701)			p.F1995F(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGAGACCGTTCGTGGAGTCTA	0.493																																					p.F1985F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C5955T	17						.	T		0,3924		0,0,1962	53.0	54.0	53.0		5955	5.8	1.0	17		53	1,8261		0,1,4130	no	coding-synonymous	TANC2	NM_025185.3		0,1,6092	TT,TC,CC		0.0121,0.0,0.0082		1985/1991	61499298	1,12185	1962	4131	6093	58853030	SO:0001819	synonymous_variant	26115	exon25			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5955C>T	17.37:g.61499298C>T			58853030	NM_025185	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	ENST00000424789.2	37	CCDS45754.1																																																																																				0.493	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
DDX42	11325	broad.mit.edu	37	17	61888508	61888508	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:61888508G>A	ENST00000578681.1	+	14	1974	c.1373G>A	c.(1372-1374)cGa>cAa	p.R458Q	DDX42_ENST00000359353.5_Missense_Mutation_p.R339Q|DDX42_ENST00000583590.1_Missense_Mutation_p.R458Q|DDX42_ENST00000457800.2_Missense_Mutation_p.R458Q|DDX42_ENST00000389924.2_Missense_Mutation_p.R458Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	458	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R458Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GACCCTATTCGAGTGGTGCAG	0.403																																					p.R458Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1373A	17						.						76.0	71.0	73.0					17																	61888508		2203	4300	6503	59242240	SO:0001583	missense	11325	exon13			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1373G>A	17.37:g.61888508G>A	ENSP00000464050:p.Arg458Gln		59242240	NM_203499	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	36	5.765277	0.96906	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.04917	3.53;3.53	5.24	5.24	0.73138	DEAD-like helicase (2);	0.052916	0.85682	D	0.000000	T	0.11196	0.0273	N	0.11023	0.085	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.45542	-0.9254	10	0.33940	T	0.23	-7.9943	17.9908	0.89168	0.0:0.0:1.0:0.0	.	458	Q86XP3	DDX42_HUMAN	Q	458;458;194	ENSP00000374574:R458Q;ENSP00000390121:R458Q	ENSP00000352308:R194Q	R	+	2	0	DDX42	59242240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.596000	0.98267	2.727000	0.93392	0.591000	0.81541	CGA		0.403	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372	
TEX2	55852	broad.mit.edu	37	17	62290418	62290418	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:62290418C>T	ENST00000583097.1	-	2	1332	c.1160G>A	c.(1159-1161)gGg>gAg	p.G387E	TEX2_ENST00000584379.1_Missense_Mutation_p.G387E|TEX2_ENST00000258991.3_Missense_Mutation_p.G387E			Q8IWB9	TEX2_HUMAN	testis expressed 2	387					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAGACTGCTCCCCTGGGAACT	0.473																																					p.G387E												.	.	0			c.G1160A	17						.						70.0	72.0	71.0					17																	62290418		2203	4300	6503	59644150	SO:0001583	missense	55852	exon2			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1160G>A	17.37:g.62290418C>T	ENSP00000462665:p.Gly387Glu		59644150	NM_018469	Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37		.	.	.	.	.	.	.	.	.	.	C	2.179	-0.388078	0.04932	.	.	ENSG00000136478	ENST00000258991	T	0.41065	1.01	6.17	-7.96	0.01144	.	0.663245	0.15035	N	0.284203	T	0.17916	0.0430	N	0.22421	0.69	0.09310	N	1	B;B	0.26902	0.163;0.102	B;B	0.20384	0.029;0.013	T	0.37641	-0.9697	10	0.02654	T	1	0.4505	12.3438	0.55109	0.157:0.4927:0.3503:0.0	.	387;387	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	E	387	ENSP00000258991:G387E	ENSP00000258991:G387E	G	-	2	0	TEX2	59644150	0.034000	0.19679	0.002000	0.10522	0.267000	0.26476	0.129000	0.15830	-1.483000	0.01858	-0.175000	0.13238	GGG		0.473	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469	
DDX5	1655	broad.mit.edu	37	17	62496154	62496154	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:62496154C>T	ENST00000225792.5	-	13	2133	c.1732G>A	c.(1732-1734)Gga>Aga	p.G578R	DDX5_ENST00000578804.1_Missense_Mutation_p.G578R|DDX5_ENST00000580026.1_5'Flank|POLG2_ENST00000539111.2_5'Flank|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.G499R|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	578	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)	p.G578R(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ACATTACTTCCGTATTGCTGA	0.423			T	ETV4	prostate																																p.G578R	NSCLC(22;406 813 4871 19580 40307)		Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1732A	17						.						162.0	132.0	142.0					17																	62496154		2203	4300	6503	59926616	SO:0001583	missense	1655	exon13			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1732G>A	17.37:g.62496154C>T	ENSP00000225792:p.Gly578Arg		59926616	NM_004396	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804381	0.31869	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T	0.23552	1.9	5.83	4.83	0.62350	.	0.981149	0.08397	N	0.951979	T	0.28632	0.0709	N	0.24115	0.695	0.49582	D	0.999805	D;D;D	0.54964	0.969;0.969;0.969	B;P;P	0.47162	0.361;0.54;0.54	T	0.23084	-1.0198	10	0.62326	D	0.03	-16.2201	17.1086	0.86669	0.0:0.874:0.126:0.0	.	499;578;578	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	R	578;508;567	ENSP00000403085:G508R	ENSP00000225792:G567R	G	-	1	0	DDX5	59926616	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.099000	0.57755	2.776000	0.95493	0.650000	0.86243	GGA		0.423	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	
CEP95	90799	broad.mit.edu	37	17	62533226	62533226	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:62533226C>T	ENST00000556440.2	+	19	2795	c.2285C>T	c.(2284-2286)gCc>gTc	p.A762V	CEP95_ENST00000553412.1_Missense_Mutation_p.A598V	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	762						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.A762V(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAATCTCAGGCCCAGGTAATA	0.393																																					p.A762V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2285T	17						.						37.0	36.0	37.0					17																	62533226		1844	4088	5932	59963688	SO:0001583	missense	90799	exon19			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2285C>T	17.37:g.62533226C>T	ENSP00000450461:p.Ala762Val		59963688	NM_138363	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846751	0.71603	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.34472	1.36;1.37	5.34	5.34	0.76211	.	0.396945	0.29119	N	0.013096	T	0.41259	0.1151	L	0.54323	1.7	0.39682	D	0.970912	P	0.38078	0.617	B	0.39660	0.306	T	0.44483	-0.9325	10	0.66056	D	0.02	-1.6286	18.4048	0.90532	0.0:1.0:0.0:0.0	.	762	Q96GE4	CEP95_HUMAN	V	697;762;598	ENSP00000450461:A762V;ENSP00000450906:A598V	ENSP00000438458:A697V	A	+	2	0	CEP95	59963688	0.999000	0.42202	0.999000	0.59377	0.938000	0.57974	4.095000	0.57728	2.655000	0.90218	0.462000	0.41574	GCC		0.393	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363	
GNA13	10672	broad.mit.edu	37	17	63010881	63010881	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:63010881C>T	ENST00000439174.2	-	4	873	c.628G>A	c.(628-630)Gac>Aac	p.D210N	GNA13_ENST00000541118.1_Missense_Mutation_p.D115N	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	210					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.D210N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						ATTTCAAAGTCGTATTCATGG	0.353																																					p.D210N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G628A	17						.						77.0	74.0	75.0					17																	63010881		2203	4300	6503	60441343	SO:0001583	missense	10672	exon4			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.628G>A	17.37:g.63010881C>T	ENSP00000400717:p.Asp210Asn		60441343	NM_006572	B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121273	0.37436	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.88277	-2.36;-2.36	5.99	4.01	0.46588	.	0.171767	0.64402	N	0.000007	T	0.82162	0.4977	L	0.35793	1.09	0.51767	D	0.999933	B	0.06786	0.001	B	0.04013	0.001	T	0.76653	-0.2880	10	0.30078	T	0.28	.	10.6321	0.45543	0.0:0.7963:0.0:0.2037	.	210	Q14344	GNA13_HUMAN	N	210;115;185	ENSP00000400717:D210N;ENSP00000439647:D115N	ENSP00000239138:D185N	D	-	1	0	GNA13	60441343	0.937000	0.31787	0.990000	0.47175	0.894000	0.52154	1.748000	0.38308	1.549000	0.49425	0.549000	0.68633	GAC		0.353	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572	
GNA13	10672	broad.mit.edu	37	17	63052586	63052586	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:63052586C>A	ENST00000439174.2	-	1	371	c.126G>T	c.(124-126)aaG>aaT	p.K42N	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	42					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.K42N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCACATAGGTCTTTTCCCGAG	0.622																																					p.K42N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G126T	17						.						129.0	122.0	125.0					17																	63052586		2203	4300	6503	60483048	SO:0001583	missense	10672	exon1			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.126G>T	17.37:g.63052586C>A	ENSP00000400717:p.Lys42Asn		60483048	NM_006572	B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168950	0.38315	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	D	0.88818	-2.43	4.06	3.08	0.35506	.	0.060786	0.64402	U	0.000006	D	0.92873	0.7733	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.91591	0.5287	10	0.72032	D	0.01	.	7.8556	0.29480	0.0:0.7261:0.0:0.2739	.	42	Q14344	GNA13_HUMAN	N	42	ENSP00000400717:K42N	ENSP00000239138:K42N	K	-	3	2	GNA13	60483048	0.962000	0.33011	0.069000	0.20011	0.078000	0.17371	0.354000	0.20146	0.674000	0.31244	0.462000	0.41574	AAG		0.622	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572	
PITPNM3	83394	broad.mit.edu	37	17	6367583	6367583	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:6367583G>A	ENST00000262483.8	-	16	2150	c.2063C>T	c.(2062-2064)aCa>aTa	p.T688I	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.T652I	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	688					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.T688I(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGTGATCTCTGTGTCCAGGTG	0.607																																					p.T688I												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C2063T	17						.						74.0	73.0	73.0					17																	6367583		2203	4300	6503	6308307	SO:0001583	missense	83394	exon16			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.2063C>T	17.37:g.6367583G>A	ENSP00000262483:p.Thr688Ile		6308307	NM_031220	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566019	0.86439	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.54279	0.58;0.58	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.89904	3.07	0.52099	D	0.999948	D;D	0.69078	0.997;0.987	D;P	0.71184	0.972;0.786	T	0.82587	-0.0383	10	0.87932	D	0	.	15.3667	0.74529	0.0:0.0:1.0:0.0	.	652;688	F8WEW5;Q9BZ71	.;PITM3_HUMAN	I	688;652	ENSP00000262483:T688I;ENSP00000407882:T652I	ENSP00000262483:T688I	T	-	2	0	PITPNM3	6308307	1.000000	0.71417	0.918000	0.36340	0.941000	0.58515	9.758000	0.98927	2.288000	0.76882	0.511000	0.50034	ACA		0.607	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
PSMD12	5718	broad.mit.edu	37	17	65343510	65343510	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:65343510C>T	ENST00000356126.3	-	6	709	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	PSMD12_ENST00000581618.1_5'Flank|PSMD12_ENST00000357146.4_Missense_Mutation_p.R181Q	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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 peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.R201Q(2)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GATTTGTGTTCGAATGTAATC	0.388																																					p.R181Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G542A	17						.						106.0	99.0	102.0					17																	65343510		2203	4300	6503	62773972	SO:0001583	missense	5718	exon5			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.602G>A	17.37:g.65343510C>T	ENSP00000348442:p.Arg201Gln		62773972	NM_174871	A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733484	0.69189	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.05925	3.37;3.37	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	L	0.49256	1.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.982;0.987	T	0.03166	-1.1065	10	0.14656	T	0.56	-12.0908	20.3151	0.98650	0.0:1.0:0.0:0.0	.	181;201	A6NP15;O00232	.;PSD12_HUMAN	Q	201;181	ENSP00000348442:R201Q;ENSP00000349667:R181Q	ENSP00000348442:R201Q	R	-	2	0	PSMD12	62773972	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	7.470000	0.80973	2.809000	0.96659	0.467000	0.42956	CGA		0.388	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871	
BPTF	2186	broad.mit.edu	37	17	65916200	65916200	+	Missense_Mutation	SNP	G	G	A	rs556375365		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:65916200G>A	ENST00000321892.4	+	15	5937	c.5876G>A	c.(5875-5877)cGa>cAa	p.R1959Q	BPTF_ENST00000335221.5_Missense_Mutation_p.R1959Q|BPTF_ENST00000306378.6_Missense_Mutation_p.R1833Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R1820Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1959					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1959Q(1)|p.R1833Q(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TATGGCATTCGATCTGAATAT	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		17897	0.001		0.0	False		,,,				2504	0.0				p.R1833Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5498A	17						.						132.0	137.0	135.0					17																	65916200		2203	4300	6503	63346662	SO:0001583	missense	2186	exon13			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.5876G>A	17.37:g.65916200G>A	ENSP00000315454:p.Arg1959Gln		63346662	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37		.	.	.	.	.	.	.	.	.	.	G	24.8	4.575199	0.86542	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.13196	2.61;2.61;2.61	5.65	5.65	0.86999	.	.	.	.	.	T	0.40522	0.1120	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.12785	-1.0534	9	0.72032	D	0.01	-9.7048	19.7228	0.96150	0.0:0.0:1.0:0.0	.	1833;1959	Q12830-2;Q12830-4	.;.	Q	1833;1959;1959	ENSP00000307208:R1833Q;ENSP00000334351:R1959Q;ENSP00000315454:R1959Q	ENSP00000307208:R1833Q	R	+	2	0	BPTF	63346662	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.860000	0.99555	2.667000	0.90743	0.655000	0.94253	CGA		0.313	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ARSG	22901	broad.mit.edu	37	17	66339917	66339917	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:66339917G>A	ENST00000448504.2	+	3	1187	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	131					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.V131I(2)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCGGGTTACGTCACTGGGAT	0.557																																					p.V131I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G391A	17						.						63.0	44.0	51.0					17																	66339917		2203	4300	6503	63851512	SO:0001583	missense	22901	exon3			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.391G>A	17.37:g.66339917G>A	ENSP00000407193:p.Val131Ile		63851512	NM_014960	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	G	2.144	-0.396218	0.04899	.	.	ENSG00000141337	ENST00000452479	.	.	.	4.56	1.45	0.22620	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.712404	0.13869	N	0.357148	T	0.23572	0.0570	N	0.20445	0.575	0.18873	N	0.999982	B	0.02656	0.0	B	0.06405	0.002	T	0.16364	-1.0405	9	0.31617	T	0.26	.	5.4646	0.16635	0.3594:0.1396:0.5009:0.0	.	131	Q96EG1	ARSG_HUMAN	I	131	.	ENSP00000413953:V131I	V	+	1	0	ARSG	63851512	0.182000	0.23173	0.540000	0.28089	0.324000	0.28378	0.170000	0.16663	0.263000	0.21812	-0.813000	0.03139	GTC		0.557	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960	
ABCA8	10351	broad.mit.edu	37	17	66881414	66881414	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:66881414C>T	ENST00000269080.2	-	25	3489	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	ABCA8_ENST00000430352.2_Missense_Mutation_p.E1158K|ABCA8_ENST00000586539.1_Missense_Mutation_p.E1158K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1118					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.E1118K(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATATCACTTTCGAAGATACTG	0.363																																					p.E1118K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3352A	17						.						90.0	82.0	85.0					17																	66881414		2203	4300	6503	64393009	SO:0001583	missense	10351	exon25			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3352G>A	17.37:g.66881414C>T	ENSP00000269080:p.Glu1118Lys		64393009	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	2.199	-0.383462	0.04966	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.87412	-2.25;-2.25	4.43	3.46	0.39613	.	1.275760	0.05374	N	0.536051	D	0.83575	0.5284	L	0.61218	1.895	0.09310	N	1	B;B;B	0.21821	0.061;0.03;0.037	B;B;B	0.19666	0.026;0.015;0.026	T	0.65759	-0.6090	10	0.06757	T	0.87	.	8.286	0.31928	0.0:0.8945:0.0:0.1055	.	1158;1158;1118	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	K	1118;1158	ENSP00000269080:E1118K;ENSP00000402814:E1158K	ENSP00000269080:E1118K	E	-	1	0	ABCA8	64393009	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.069000	0.11542	1.462000	0.47948	0.655000	0.94253	GAA		0.363	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA8	10351	broad.mit.edu	37	17	66899514	66899514	+	Missense_Mutation	SNP	C	C	T	rs141905033		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:66899514C>T	ENST00000269080.2	-	18	2542	c.2405G>A	c.(2404-2406)cGa>cAa	p.R802Q	ABCA8_ENST00000430352.2_Missense_Mutation_p.R842Q|ABCA8_ENST00000586539.1_Missense_Mutation_p.R842Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	802					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R802Q(2)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GATTTGCTGTCGCCAGAGAGC	0.433																																					p.R802Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2405A	17						.						146.0	135.0	139.0					17																	66899514		2203	4300	6503	64411109	SO:0001583	missense	10351	exon18			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2405G>A	17.37:g.66899514C>T	ENSP00000269080:p.Arg802Gln		64411109	NM_007168	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656227	0.67586	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.79845	-1.31;-1.31	4.9	0.352	0.16051	.	0.648009	0.13731	N	0.366714	D	0.85609	0.5736	M	0.83118	2.625	0.09310	N	1	D;D;D;D;D	0.69078	0.997;0.985;0.992;0.982;0.992	D;P;P;P;P	0.66497	0.944;0.66;0.797;0.848;0.784	T	0.72584	-0.4249	10	0.29301	T	0.29	.	4.5831	0.12269	0.145:0.4883:0.2828:0.0839	.	781;842;842;842;802	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	Q	802;842;781	ENSP00000269080:R802Q;ENSP00000402814:R842Q	ENSP00000269080:R802Q	R	-	2	0	ABCA8	64411109	0.000000	0.05858	0.004000	0.12327	0.871000	0.50021	0.061000	0.14366	0.269000	0.21961	0.655000	0.94253	CGA		0.433	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	
ABCA9	10350	broad.mit.edu	37	17	66981061	66981061	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:66981061C>T	ENST00000340001.4	-	34	4555	c.4344G>A	c.(4342-4344)tcG>tcA	p.S1448S	ABCA9_ENST00000453985.2_Silent_p.S1410S|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_Intron	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1448	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S1448S(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCATCCCGGTCGACGGCTCAT	0.572																																					p.S1448S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4344A	17						.						108.0	99.0	102.0					17																	66981061		2203	4300	6503	64492656	SO:0001819	synonymous_variant	10350	exon34			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4344G>A	17.37:g.66981061C>T			64492656	NM_080283	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	CCDS11681.1																																																																																				0.572	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
ABCA6	23460	broad.mit.edu	37	17	67081193	67081193	+	Missense_Mutation	SNP	G	G	A	rs527461596		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:67081193G>A	ENST00000284425.2	-	32	4334	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1387	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A1387V(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCTCGCGTCCGCTTTCCTGAG	0.562																																					p.A1387V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4160T	17						.						67.0	47.0	54.0					17																	67081193		2203	4300	6503	64592788	SO:0001583	missense	23460	exon32			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4160C>T	17.37:g.67081193G>A	ENSP00000284425:p.Ala1387Val		64592788	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392264	0.25118	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.94000	-3.33	4.77	-9.53	0.00575	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.061000	0.07441	N	0.897221	D	0.87775	0.6262	L	0.48260	1.515	0.09310	N	0.99999	B	0.31968	0.349	B	0.35655	0.207	T	0.77736	-0.2476	10	0.33141	T	0.24	.	7.8083	0.29215	0.0702:0.093:0.4957:0.3411	.	1387	Q8N139	ABCA6_HUMAN	V	1387;247	ENSP00000284425:A1387V	ENSP00000284425:A1387V	A	-	2	0	ABCA6	64592788	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.223000	0.01214	-2.508000	0.00506	-1.835000	0.00590	GCG		0.562	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
KIAA0753	9851	broad.mit.edu	37	17	6526885	6526885	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:6526885C>A	ENST00000361413.3	-	5	1190	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	KIAA0753_ENST00000589033.1_5'Flank|KIAA0753_ENST00000542606.1_5'UTR|KIAA0753_ENST00000572370.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	278						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E278*(1)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TCCTGGATTTCTTTTACCTGT	0.308																																					p.E278X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G832T	17						.						113.0	108.0	109.0					17																	6526885		1804	4074	5878	6467609	SO:0001587	stop_gained	9851	exon5				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.832G>T	17.37:g.6526885C>A	ENSP00000355250:p.Glu278*		6467609	NM_014804	A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Nonsense_Mutation	SNP	ENST00000361413.3	37	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	40	8.173407	0.98688	.	.	ENSG00000198920	ENST00000361413	.	.	.	5.7	5.7	0.88788	.	0.104491	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-12.4795	17.7138	0.88330	0.0:1.0:0.0:0.0	.	.	.	.	X	278	.	ENSP00000355250:E278X	E	-	1	0	KIAA0753	6467609	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.339000	0.59322	2.861000	0.98227	0.655000	0.94253	GAA		0.308	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804	
ABCA6	23460	broad.mit.edu	37	17	67130782	67130782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:67130782C>A	ENST00000284425.2	-	5	736	c.562G>T	c.(562-564)Gaa>Taa	p.E188*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	188					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E188*(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCACTTACTTCTATAATGGCA	0.348																																					p.E188X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G562T	17						.						96.0	87.0	90.0					17																	67130782		2203	4300	6503	64642377	SO:0001587	stop_gained	23460	exon5			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.562G>T	17.37:g.67130782C>A	ENSP00000284425:p.Glu188*		64642377	NM_080284	Q6NSH9|Q8N856|Q8WWZ6	Nonsense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737191	0.96865	.	.	ENSG00000154262	ENST00000284425	.	.	.	5.37	2.22	0.28083	.	0.135690	0.32819	N	0.005620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.2294	0.82322	0.0:0.8309:0.1691:0.0	.	.	.	.	X	188	.	ENSP00000284425:E188X	E	-	1	0	ABCA6	64642377	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	0.446000	0.21694	0.318000	0.23185	0.655000	0.94253	GAA		0.348	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
ABCA10	10349	broad.mit.edu	37	17	67221481	67221481	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:67221481C>T	ENST00000269081.4	-	4	928	c.19G>A	c.(19-21)Gct>Act	p.A7T	ABCA10_ENST00000416101.2_Missense_Mutation_p.A7T|ABCA10_ENST00000423818.2_Missense_Mutation_p.A7T|ABCA10_ENST00000432313.2_Missense_Mutation_p.A7T	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	7					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A7T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATAAAGGAAGCCAAGGCCATC	0.388																																					p.A7T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G19A	17						.						188.0	137.0	154.0					17																	67221481		2203	4300	6503	64733076	SO:0001583	missense	10349	exon4			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.19G>A	17.37:g.67221481C>T	ENSP00000269081:p.Ala7Thr		64733076	NM_080282	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576570	0.28092	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313;ENST00000423818	D;D;D	0.88046	-2.33;-2.11;-1.91	4.28	0.886	0.19194	.	.	.	.	.	T	0.78685	0.4322	L	0.52206	1.635	0.09310	N	1	B	0.32245	0.361	B	0.28784	0.094	T	0.61884	-0.6971	9	0.20046	T	0.44	.	5.1337	0.14924	0.355:0.5411:0.0:0.1039	.	7	Q8WWZ4	ABCAA_HUMAN	T	7	ENSP00000269081:A7T;ENSP00000407772:A7T;ENSP00000387674:A7T	ENSP00000269081:A7T	A	-	1	0	ABCA10	64733076	0.000000	0.05858	0.001000	0.08648	0.150000	0.21749	0.466000	0.22019	0.221000	0.20879	-0.188000	0.12872	GCT		0.388	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
ABCA5	23461	broad.mit.edu	37	17	67247996	67247996	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:67247996C>T	ENST00000392676.3	-	35	4491	c.4427G>A	c.(4426-4428)cGa>cAa	p.R1476Q	ABCA5_ENST00000588877.1_Missense_Mutation_p.R1476Q|ABCA5_ENST00000392677.2_Missense_Mutation_p.R1477Q			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1476	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1476Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAATGCAGTTCGAATTGCTCG	0.388																																					p.R1476Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4427A	17						.						63.0	57.0	59.0					17																	67247996		2203	4300	6503	64759591	SO:0001583	missense	23461	exon35			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.4427G>A	17.37:g.67247996C>T	ENSP00000376443:p.Arg1476Gln		64759591	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500568	0.85176	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.95588	-3.75;-3.75	5.44	5.44	0.79542	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.51477	D	0.000084	D	0.94440	0.8211	N	0.12853	0.265	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90793	0.4688	10	0.08179	T	0.78	.	19.6122	0.95610	0.0:1.0:0.0:0.0	.	1476	Q8WWZ7	ABCA5_HUMAN	Q	1477;1476	ENSP00000376444:R1477Q;ENSP00000376443:R1476Q	ENSP00000376443:R1476Q	R	-	2	0	ABCA5	64759591	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.511000	0.67024	2.709000	0.92574	0.591000	0.81541	CGA		0.388	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
ABCA5	23461	broad.mit.edu	37	17	67255890	67255890	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:67255890T>G	ENST00000392676.3	-	28	3752	c.3688A>C	c.(3688-3690)Aaa>Caa	p.K1230Q	ABCA5_ENST00000588877.1_Missense_Mutation_p.K1230Q|ABCA5_ENST00000392677.2_Missense_Mutation_p.K1231Q			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1230					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K1230Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CCATATTTTTTCTCATAGTAT	0.308																																					p.K1230Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3688C	17						.						57.0	56.0	56.0					17																	67255890		2203	4300	6503	64767485	SO:0001583	missense	23461	exon28			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3688A>C	17.37:g.67255890T>G	ENSP00000376443:p.Lys1230Gln		64767485	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968430	0.34754	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87729	-2.28;-2.29	5.85	5.85	0.93711	.	0.225320	0.30528	N	0.009436	T	0.79690	0.4489	L	0.57536	1.79	0.25865	N	0.98378	P	0.39665	0.682	B	0.31547	0.132	T	0.75004	-0.3470	9	.	.	.	.	4.078	0.09912	0.1268:0.0698:0.1325:0.6709	.	1230	Q8WWZ7	ABCA5_HUMAN	Q	1231;1230	ENSP00000376444:K1231Q;ENSP00000376443:K1230Q	.	K	-	1	0	ABCA5	64767485	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.293000	0.33353	2.234000	0.73211	0.460000	0.39030	AAA		0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
ABCA5	23461	broad.mit.edu	37	17	67309281	67309281	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:67309281T>G	ENST00000392676.3	-	3	323	c.259A>C	c.(259-261)Att>Ctt	p.I87L	ABCA5_ENST00000588877.1_Missense_Mutation_p.I87L|ABCA5_ENST00000392677.2_Missense_Mutation_p.I87L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	87					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I87L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	CTGCTTGTAATATTAGTCACT	0.308																																					p.I87L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A259C	17						.						94.0	98.0	97.0					17																	67309281		2203	4291	6494	64820876	SO:0001583	missense	23461	exon3			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.259A>C	17.37:g.67309281T>G	ENSP00000376443:p.Ile87Leu		64820876	NM_172232	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	5.984	0.365538	0.11352	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.85773	-2.03;-2.03	5.0	1.48	0.22813	.	0.379621	0.25247	N	0.032042	T	0.74084	0.3670	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.15484	0.007;0.013	T	0.57568	-0.7789	9	.	.	.	.	8.9795	0.35957	0.0:0.225:0.0:0.775	.	87;87	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	L	87	ENSP00000376444:I87L;ENSP00000376443:I87L	.	I	-	1	0	ABCA5	64820876	0.009000	0.17119	0.923000	0.36655	0.811000	0.45836	0.119000	0.15626	0.265000	0.21872	-0.351000	0.07748	ATT		0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
NXN	64359	broad.mit.edu	37	17	726884	726884	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:726884G>T	ENST00000336868.3	-	3	691	c.600C>A	c.(598-600)ttC>ttA	p.F200L	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000577098.1_5'Flank|NXN_ENST00000538650.1_5'Flank|NXN_ENST00000575801.1_Missense_Mutation_p.F92L	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	200	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)	p.F200L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		AATGTGCGGAGAAATAGACGC	0.572																																					p.F200L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C600A	17						.						53.0	50.0	51.0					17																	726884		2203	4300	6503	673634	SO:0001583	missense	64359	exon3				CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.600C>A	17.37:g.726884G>T	ENSP00000337443:p.Phe200Leu		673634	NM_022463	B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935833	0.52972	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	D	0.86097	-2.07	5.87	3.88	0.44766	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.93171	0.7825	M	0.92923	3.36	0.80722	D	1	B;D;D	0.61697	0.026;0.99;0.985	B;D;D	0.72982	0.022;0.979;0.977	D	0.94117	0.7376	10	0.72032	D	0.01	-22.3976	11.7882	0.52055	0.1416:0.0:0.8584:0.0	.	92;87;200	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	L	200;92	ENSP00000337443:F200L	ENSP00000337443:F200L	F	-	3	2	NXN	673634	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.289000	0.65656	1.633000	0.50488	-0.137000	0.14449	TTC		0.572	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1		
TEKT1	83659	broad.mit.edu	37	17	6704230	6704230	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:6704230A>T	ENST00000338694.2	-	7	1014	c.885T>A	c.(883-885)aaT>aaA	p.N295K	TEKT1_ENST00000535086.1_Missense_Mutation_p.N149K	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	295						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.N295K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GAGCTGTAATATTTTTCTCCT	0.507																																					p.N295K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T885A	17						.						121.0	124.0	123.0					17																	6704230		2203	4300	6503	6644954	SO:0001583	missense	83659	exon7				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.885T>A	17.37:g.6704230A>T	ENSP00000341346:p.Asn295Lys		6644954	NM_053285	D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703432	0.68501	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.02606	4.23;4.23	5.85	-5.29	0.02747	.	0.091207	0.64402	D	0.000001	T	0.08088	0.0202	M	0.84219	2.685	0.33290	D	0.563462	P	0.42649	0.786	P	0.51297	0.665	T	0.00274	-1.1857	10	0.31617	T	0.26	.	13.2108	0.59822	0.5848:0.0:0.4152:0.0	.	295	Q969V4	TEKT1_HUMAN	K	295;149	ENSP00000341346:N295K;ENSP00000444142:N149K	ENSP00000341346:N295K	N	-	3	2	TEKT1	6644954	1.000000	0.71417	0.002000	0.10522	0.862000	0.49288	0.735000	0.26115	-1.200000	0.02662	-0.912000	0.02778	AAT		0.507	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285	
KCNJ16	3773	broad.mit.edu	37	17	68128832	68128832	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:68128832C>T	ENST00000589377.1	+	2	767	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KCNJ16_ENST00000283936.1_Missense_Mutation_p.R202C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R202C|KCNJ16_ENST00000585558.1_Missense_Mutation_p.R237C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.R241C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R202C	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	202					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.R202C(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCTCATGTGGCGCATTGGTGA	0.483																																					p.R202C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C604T	17						.						76.0	67.0	70.0					17																	68128832		2203	4300	6503	65640427	SO:0001583	missense	3773	exon5			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.604C>T	17.37:g.68128832C>T	ENSP00000465967:p.Arg202Cys		65640427	NM_018658		Missense_Mutation	SNP	ENST00000589377.1	37	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945274	0.53079	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.97303	-4.33;-4.33;-4.33	5.84	5.84	0.93424	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99353	1.0915	9	.	.	.	.	19.7486	0.96260	0.0:1.0:0.0:0.0	.	202;202	A8K434;Q9NPI9	.;IRK16_HUMAN	C	202	ENSP00000283936:R202C;ENSP00000376439:R202C;ENSP00000376438:R202C	.	R	+	1	0	KCNJ16	65640427	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	4.884000	0.63135	2.764000	0.94973	0.650000	0.86243	CGC		0.483	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658	
COG1	9382	broad.mit.edu	37	17	71197688	71197688	+	Silent	SNP	C	C	T	rs149888309	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:71197688C>T	ENST00000299886.4	+	7	1802	c.1722C>T	c.(1720-1722)tcC>tcT	p.S574S		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	574					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.S574S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GGACTCAGTCCGTGGCATGCA	0.577													C|||	2	0.000399361	0.0015	0.0	5008	,	,		23616	0.0		0.0	False		,,,				2504	0.0				p.S574S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1722T	17						.						95.0	77.0	83.0					17																	71197688		2203	4300	6503	68709283	SO:0001819	synonymous_variant	9382	exon7				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1722C>T	17.37:g.71197688C>T			68709283	NM_018714	Q9NPV9|Q9P2G6	Silent	SNP	ENST00000299886.4	37	CCDS11692.1																																																																																				0.577	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1		
C17orf80	55028	broad.mit.edu	37	17	71232497	71232497	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:71232497C>A	ENST00000535032.2	+	2	989	c.876C>A	c.(874-876)gtC>gtA	p.V292V	FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000359042.2_Silent_p.V292V|C17orf80_ENST00000426147.2_Silent_p.V292V|C17orf80_ENST00000255557.4_Silent_p.V292V|C17orf80_ENST00000577615.1_Silent_p.V292V|C17orf80_ENST00000268942.8_Silent_p.V292V			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	292						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V292V(1)		kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AAATCCAAGTCATGGAGAAAC	0.428																																					p.V292V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876A	17						.						57.0	55.0	55.0					17																	71232497		2203	4300	6503	68744092	SO:0001819	synonymous_variant	55028	exon3			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.876C>A	17.37:g.71232497C>A			68744092	NM_001100622	A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	CCDS11694.1																																																																																				0.428	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941	
GPR142	350383	broad.mit.edu	37	17	72368475	72368475	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:72368475C>T	ENST00000335666.4	+	4	1173	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	375						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F375F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCCGGGTCTTCGTCATGCTCT	0.662																																					p.F375F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1125T	17						.						116.0	98.0	104.0					17																	72368475		2203	4300	6503	69880070	SO:0001819	synonymous_variant	350383	exon4			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1125C>T	17.37:g.72368475C>T			69880070	NM_181790	A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	CCDS11698.1																																																																																				0.662	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790	
CD300A	11314	broad.mit.edu	37	17	72473639	72473639	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:72473639G>T	ENST00000360141.3	+	4	886	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	CD300A_ENST00000392625.3_Missense_Mutation_p.A87S|CD300A_ENST00000310828.5_Missense_Mutation_p.A87S|CD300A_ENST00000577511.1_Missense_Mutation_p.A70S|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	200					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)	p.A200S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CTCCCTGCTAGCCTGGAGGAT	0.617																																					p.A200S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598T	17						.						94.0	75.0	81.0					17																	72473639		2203	4300	6503	69985234	SO:0001583	missense	11314	exon4			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.598G>T	17.37:g.72473639G>T	ENSP00000353259:p.Ala200Ser		69985234	NM_007261	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	G	7.752	0.703483	0.15172	.	.	ENSG00000167851	ENST00000360141;ENST00000392625;ENST00000310828	T;T	0.47528	0.84;0.84	4.08	2.03	0.26663	.	1.295440	0.05788	N	0.609938	T	0.49609	0.1567	L	0.45352	1.415	0.22266	N	0.99924	B;B;D	0.58268	0.221;0.335;0.982	B;B;P	0.52672	0.136;0.136;0.706	T	0.38415	-0.9662	10	0.72032	D	0.01	.	4.2009	0.10466	0.1195:0.0:0.6486:0.2319	.	87;87;200	Q9UGN4-4;Q9UGN4-2;Q9UGN4	.;.;CLM8_HUMAN	S	200;87;87	ENSP00000353259:A200S;ENSP00000308188:A87S	ENSP00000308188:A87S	A	+	1	0	CD300A	69985234	0.965000	0.33210	0.938000	0.37757	0.009000	0.06853	0.847000	0.27696	0.992000	0.38840	-0.521000	0.04368	GCC		0.617	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261	
SLC9A3R1	9368	broad.mit.edu	37	17	72764775	72764775	+	Missense_Mutation	SNP	G	G	A	rs144091666		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:72764775G>A	ENST00000262613.5	+	6	1252	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.E197K	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	353					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)	p.E353K(1)		large_intestine(4)	4						CAAGAAAAACGAACTCTTCAG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		15824	0.001		0.0	False		,,,				2504	0.0				p.E353K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1057A	17						.	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	62.0	69.0	67.0		1057	4.9	1.0	17	dbSNP_134	67	0,8600		0,0,4300	no	missense	SLC9A3R1	NM_004252.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	353/359	72764775	1,13005	2203	4300	6503	70276370	SO:0001583	missense	9368	exon6			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.1057G>A	17.37:g.72764775G>A	ENSP00000262613:p.Glu353Lys		70276370	NM_004252	B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	37	CCDS11705.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.581772|5.581772	0.96578|0.96578	2.27E-4|2.27E-4	0.0|0.0	ENSG00000109062|ENSG00000109062	ENST00000262613|ENST00000413388	T|.	0.52983|.	0.64|.	4.88|4.88	4.88|4.88	0.63580|0.63580	EBP50, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69360|0.69360	0.3102|0.3102	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.76494|.	0.999|.	D|.	0.72338|.	0.977|.	T|T	0.64453|0.64453	-0.6404|-0.6404	10|6	0.62326|0.13853	D|T	0.03|0.58	-8.4025|-8.4025	18.0463|18.0463	0.89334|0.89334	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	353|.	O14745|.	NHRF1_HUMAN|.	K|Q	353|240	ENSP00000262613:E353K|.	ENSP00000262613:E353K|ENSP00000398782:R240Q	E|R	+|+	1|2	0|0	SLC9A3R1|SLC9A3R1	70276370|70276370	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	9.434000|9.434000	0.97515|0.97515	2.250000|2.250000	0.74265|0.74265	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.587	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1		
OTOP2	92736	broad.mit.edu	37	17	72927228	72927228	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:72927228C>A	ENST00000580223.1	+	5	1528	c.1498C>A	c.(1498-1500)Ctc>Atc	p.L500I	OTOP2_ENST00000331427.4_Missense_Mutation_p.L500I			Q7RTS6	OTOP2_HUMAN	otopetrin 2	500						integral component of membrane (GO:0016021)		p.L500I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCTCTGTTTCTCCTACTCTG	0.557																																					p.L500I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1498A	17						.						72.0	74.0	73.0					17																	72927228		2203	4300	6503	70438823	SO:0001583	missense	92736	exon6			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1498C>A	17.37:g.72927228C>A	ENSP00000463837:p.Leu500Ile		70438823	NM_178160		Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643612	0.67244	.	.	ENSG00000183034	ENST00000331427	T	0.52295	0.67	4.96	3.99	0.46301	.	0.000000	0.64402	D	0.000001	T	0.71375	0.3332	M	0.87971	2.92	0.52501	D	0.999958	D	0.89917	1.0	D	0.97110	1.0	T	0.76865	-0.2801	10	0.72032	D	0.01	-9.0544	13.4327	0.61064	0.0:0.9237:0.0:0.0763	.	500	Q7RTS6	OTOP2_HUMAN	I	500	ENSP00000332528:L500I	ENSP00000332528:L500I	L	+	1	0	OTOP2	70438823	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	3.706000	0.54830	1.080000	0.41073	0.462000	0.41574	CTC		0.557	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160	
DLG4	1742	broad.mit.edu	37	17	7106631	7106631	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7106631C>T	ENST00000399506.2	-	7	714	c.523G>A	c.(523-525)Gca>Aca	p.A175T	DLG4_ENST00000302955.6_Missense_Mutation_p.A172T|DLG4_ENST00000485100.1_Missense_Mutation_p.A172T|DLG4_ENST00000399510.2_Missense_Mutation_p.A218T			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	175	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.A218T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	ACGCCCCCTGCGATGCTGAAG	0.577																																					p.A172T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G514A	17						.						63.0	61.0	62.0					17																	7106631		2004	4178	6182	7047355	SO:0001583	missense	1742	exon7			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.523G>A	17.37:g.7106631C>T	ENSP00000382425:p.Ala175Thr		7047355	NM_001128827	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37		.	.	.	.	.	.	.	.	.	.	C	26.4	4.736439	0.89482	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.14	5.14	0.70334	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.53594	0.1806	M	0.62209	1.925	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.992;0.998;0.985	T	0.55661	-0.8106	9	0.66056	D	0.02	.	16.0921	0.81098	0.0:1.0:0.0:0.0	.	215;175;172;172;218	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	T	175;172;218;218;115;218;208;205	ENSP00000382425:A175T;ENSP00000307471:A172T;ENSP00000382428:A218T;ENSP00000388122:A205T	ENSP00000293813:A218T	A	-	1	0	DLG4	7047355	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.484000	0.81180	2.390000	0.81377	0.557000	0.71058	GCA		0.577	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	
DLG4	1742	broad.mit.edu	37	17	7107081	7107081	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7107081C>T	ENST00000399506.2	-	5	456	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	DLG4_ENST00000302955.6_Missense_Mutation_p.G86S|DLG4_ENST00000485100.1_Missense_Mutation_p.G86S|DLG4_ENST00000399510.2_Missense_Mutation_p.G132S			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	89	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.G132S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GGGTCGTCACCGATGTGTGGG	0.602																																					p.G86S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G256A	17						.						53.0	59.0	57.0					17																	7107081		2101	4231	6332	7047805	SO:0001583	missense	1742	exon5			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.265G>A	17.37:g.7107081C>T	ENSP00000382425:p.Gly89Ser		7047805	NM_001128827	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37		.	.	.	.	.	.	.	.	.	.	C	17.16	3.319114	0.60524	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	4.19	4.19	0.49359	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.28699	0.0711	L	0.38953	1.18	0.49130	D	0.999755	D;D;D;D;D	0.89917	0.978;0.99;1.0;0.987;0.999	P;D;D;D;D	0.97110	0.896;0.937;1.0;0.929;0.989	T	0.01367	-1.1373	9	0.46703	T	0.11	.	10.1569	0.42827	0.0:0.796:0.204:0.0	.	129;89;86;86;132	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	S	89;86;132;132;29;132;122;119	ENSP00000382425:G89S;ENSP00000307471:G86S;ENSP00000382428:G132S;ENSP00000388122:G119S	ENSP00000293813:G132S	G	-	1	0	DLG4	7047805	0.006000	0.16342	0.999000	0.59377	0.989000	0.77384	1.196000	0.32198	1.903000	0.55091	0.455000	0.32223	GGT		0.602	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	
OTOP3	347741	broad.mit.edu	37	17	72943030	72943030	+	Silent	SNP	C	C	T	rs78168725		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:72943030C>T	ENST00000328801.4	+	6	1080	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	360						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.I360I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TCTTCCAAATCGAGGCCAGTG	0.632																																					p.I360I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1080T	17						.						57.0	46.0	49.0					17																	72943030		2203	4299	6502	70454625	SO:0001819	synonymous_variant	347741	exon6			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1080C>T	17.37:g.72943030C>T			70454625	NM_178233		Silent	SNP	ENST00000328801.4	37	CCDS11709.1																																																																																				0.632	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233	
GRB2	2885	broad.mit.edu	37	17	73317741	73317741	+	Splice_Site	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:73317741T>C	ENST00000392562.1	-	5	1249	c.467A>G	c.(466-468)cAg>cGg	p.Q156R	GRB2_ENST00000316615.5_Splice_Site_p.Q115R|GRB2_ENST00000316804.5_Splice_Site_p.Q156R|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000392563.1_Splice_Site_p.Q115R|GRB2_ENST00000392564.1_Splice_Site_p.Q156R|GRB2_ENST00000578961.1_Intron			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	156	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.Q156R(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	GAGGCTTACCTGTGGCACCTG	0.483																																					p.Q156R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A467G	17						.						98.0	95.0	96.0					17																	73317741		2203	4300	6503	70829336	SO:0001630	splice_region_variant	2885	exon5				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.468+1A>G	17.37:g.73317741T>C			70829336	NM_002086	P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.603917	0.46423	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;T;T	0.42900	1.0;1.0;1.0;0.96;0.96	5.7	5.7	0.88788	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	N	0.17474	0.49	0.80722	D	1	P;P	0.42993	0.769;0.797	P;B	0.61397	0.888;0.255	T	0.31971	-0.9924	10	0.15066	T	0.55	-26.8717	15.9796	0.80097	0.0:0.0:0.0:1.0	.	115;156	P62993-2;P62993	.;GRB2_HUMAN	R	156;156;156;115;115	ENSP00000339007:Q156R;ENSP00000376345:Q156R;ENSP00000376347:Q156R;ENSP00000376346:Q115R;ENSP00000317360:Q115R	ENSP00000317360:Q115R	Q	-	2	0	GRB2	70829336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.008000	0.88588	2.185000	0.69588	0.528000	0.53228	CAG		0.483	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1		Missense_Mutation
RNF157	114804	broad.mit.edu	37	17	74163190	74163190	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:74163190T>C	ENST00000269391.6	-	5	593	c.461A>G	c.(460-462)aAc>aGc	p.N154S	RNF157_ENST00000319945.6_Missense_Mutation_p.N154S	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	154							zinc ion binding (GO:0008270)	p.N764S(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGGAGGCTGTTGTCTTTGGG	0.547																																					p.N154S	GBM(186;507 2120 27388 27773 52994)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A461G	17						.						112.0	102.0	106.0					17																	74163190		2203	4300	6503	71674785	SO:0001583	missense	114804	exon5			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.461A>G	17.37:g.74163190T>C	ENSP00000269391:p.Asn154Ser		71674785	NM_052916	Q8NB72|Q96N56	Missense_Mutation	SNP	ENST00000269391.6	37	CCDS32740.1	.	.	.	.	.	.	.	.	.	.	T	7.367	0.625992	0.14257	.	.	ENSG00000141576	ENST00000269391;ENST00000319945;ENST00000301610	T;T	0.26518	1.73;1.73	5.33	1.86	0.25419	.	0.338089	0.41294	N	0.000917	T	0.04770	0.0129	N	0.00648	-1.295	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21518	-1.0243	10	0.07325	T	0.83	-15.3485	1.0966	0.01675	0.1317:0.2608:0.2028:0.4046	.	154;154	Q96PX1-2;Q96PX1	.;RN157_HUMAN	S	154;154;116	ENSP00000269391:N154S;ENSP00000321837:N154S	ENSP00000269391:N154S	N	-	2	0	RNF157	71674785	0.108000	0.22018	0.993000	0.49108	0.983000	0.72400	-0.622000	0.05553	0.036000	0.15547	-0.266000	0.10368	AAC		0.547	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732	
PRPSAP1	5635	broad.mit.edu	37	17	74326170	74326170	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:74326170A>G	ENST00000446526.3	-	6	1034	c.589T>C	c.(589-591)Tac>Cac	p.Y197H	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.Y94H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	168					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)	p.Y168H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GCATTTCTGTAATTTGGAATC	0.388																																					p.Y197H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T589C	17						.						137.0	132.0	134.0					17																	74326170		2203	4300	6503	71837765	SO:0001583	missense	5635	exon6			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.589T>C	17.37:g.74326170A>G	ENSP00000414624:p.Tyr197His		71837765	NM_002766	B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	A	24.4	4.521906	0.85600	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.85478	0.5706	M	0.77616	2.38	0.80722	D	1	P;D	0.76494	0.913;0.999	P;D	0.72625	0.836;0.978	D	0.85212	0.1021	10	0.37606	T	0.19	.	15.7287	0.77784	1.0:0.0:0.0:0.0	.	168;197	Q14558;Q14558-2	KPRA_HUMAN;.	H	197;94;94;94	ENSP00000414624:Y197H;ENSP00000314973:Y94H;ENSP00000392838:Y94H;ENSP00000387494:Y94H	ENSP00000314973:Y94H	Y	-	1	0	PRPSAP1	71837765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.168000	0.68352	0.533000	0.62120	TAC		0.388	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766	
C17orf74	201243	broad.mit.edu	37	17	7329903	7329903	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7329903A>G	ENST00000333870.3	+	3	667	c.593A>G	c.(592-594)tAc>tGc	p.Y198C	C17orf74_ENST00000574034.1_Silent_p.V85V|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	198						integral component of membrane (GO:0016021)		p.Y198C(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				TATCCCAAGTACCCACGTCGC	0.602																																					p.Y198C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A593G	17						.						103.0	107.0	106.0					17																	7329903		1975	4139	6114	7270627	SO:0001583	missense	201243	exon3			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.593A>G	17.37:g.7329903A>G	ENSP00000328061:p.Tyr198Cys		7270627	NM_175734		Missense_Mutation	SNP	ENST00000333870.3	37	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363421	0.41902	.	.	ENSG00000184560	ENST00000333870	T	0.35048	1.33	4.18	-0.934	0.10428	.	1.661060	0.03566	N	0.227836	T	0.20170	0.0485	N	0.17082	0.46	0.20764	N	0.99986	B	0.21452	0.056	B	0.20384	0.029	T	0.11690	-1.0577	10	0.36615	T	0.2	-6.4108	0.5854	0.00718	0.4404:0.1911:0.2043:0.1642	.	198	Q0P670	CQ074_HUMAN	C	198	ENSP00000328061:Y198C	ENSP00000328061:Y198C	Y	+	2	0	C17orf74	7270627	0.003000	0.15002	0.247000	0.24249	0.255000	0.26057	-0.016000	0.12613	-0.321000	0.08627	0.402000	0.26972	TAC		0.602	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734	
METTL23	124512	broad.mit.edu	37	17	74729688	74729688	+	Missense_Mutation	SNP	G	G	A	rs376795776		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:74729688G>A	ENST00000341249.6	+	5	825	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	MIR636_ENST00000384825.1_RNA|METTL23_ENST00000590964.1_Missense_Mutation_p.E98K|METTL23_ENST00000588302.1_3'UTR|MFSD11_ENST00000588460.1_5'Flank|METTL23_ENST00000586752.1_Missense_Mutation_p.E98K|METTL23_ENST00000586200.1_Missense_Mutation_p.E46K|METTL23_ENST00000588822.1_Missense_Mutation_p.E98K|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000586738.1_3'UTR|MFSD11_ENST00000586622.1_5'Flank	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	165						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	methyltransferase activity (GO:0008168)	p.E165K(1)		large_intestine(2)|lung(1)	3						TGCAGACAAAGAAGATATAGC	0.383																																					p.E165K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G493A	17						.						168.0	167.0	167.0					17																	74729688		1878	4104	5982	72241283	SO:0001583	missense	124512	exon5				CCDS45787.1, CCDS59298.1	17q25.2	2011-03-03	2011-03-03	2011-03-03	ENSG00000181038	ENSG00000181038			26988	protein-coding gene	gene with protein product		615262	"""chromosome 17 open reading frame 95"""	C17orf95		12477932	Standard	NM_001080510		Approved	LOC124512	uc021udl.1	Q86XA0		ENST00000341249.6:c.493G>A	17.37:g.74729688G>A	ENSP00000341543:p.Glu165Lys		72241283	NM_001080510	H9ZYJ0|K7EK32	Missense_Mutation	SNP	ENST00000341249.6	37	CCDS45787.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912170	0.72983	.	.	ENSG00000181038	ENST00000317409;ENST00000341249	T	0.22743	1.94	5.71	5.71	0.89125	.	0.368243	0.31210	N	0.008050	T	0.26159	0.0638	L	0.47716	1.5	0.46241	D	0.998941	P	0.46064	0.872	B	0.42738	0.396	T	0.00657	-1.1623	10	0.39692	T	0.17	-15.7918	19.8677	0.96824	0.0:0.0:1.0:0.0	.	165	Q86XA0	MET23_HUMAN	K	244;165	ENSP00000341543:E165K	ENSP00000316862:E244K	E	+	1	0	METTL23	72241283	0.999000	0.42202	0.889000	0.34880	0.985000	0.73830	3.169000	0.50809	2.709000	0.92574	0.655000	0.94253	GAA		0.383	METTL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451002.1	NM_001080510	
CHRNB1	1140	broad.mit.edu	37	17	7359133	7359133	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7359133C>T	ENST00000306071.2	+	10	1305	c.1238C>T	c.(1237-1239)gCc>gTc	p.A413V	CHRNB1_ENST00000575379.1_5'UTR|CHRNB1_ENST00000536404.2_Missense_Mutation_p.A341V|CHRNB1_ENST00000576360.1_Missense_Mutation_p.A292V	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	413					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.A413V(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GAACTGTCTGCCCCTGATCTG	0.627																																					p.A413V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1238T	17						.						72.0	64.0	67.0					17																	7359133		2203	4300	6503	7299857	SO:0001583	missense	1140	exon10			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1238C>T	17.37:g.7359133C>T	ENSP00000304290:p.Ala413Val		7299857	NM_000747	B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	37	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564909	0.45694	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	D;D	0.85773	-2.03;-2.03	5.6	4.58	0.56647	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.176940	0.06689	U	0.769225	T	0.75042	0.3796	N	0.10664	0.02	0.33511	D	0.59118	B	0.29212	0.237	B	0.30716	0.119	T	0.66168	-0.5991	10	0.29301	T	0.29	.	13.6821	0.62491	0.0:0.844:0.156:0.0	.	413	P11230	ACHB_HUMAN	V	413;341	ENSP00000304290:A413V;ENSP00000439209:A341V	ENSP00000304290:A413V	A	+	2	0	CHRNB1	7299857	0.000000	0.05858	0.136000	0.22124	0.821000	0.46438	0.215000	0.17562	2.632000	0.89209	0.609000	0.83330	GCC		0.627	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3		
SEC14L1	6397	broad.mit.edu	37	17	75196590	75196590	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:75196590C>T	ENST00000413679.2	+	9	1147	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	SEC14L1_ENST00000392476.2_Missense_Mutation_p.R282W|SEC14L1_ENST00000431431.2_Missense_Mutation_p.R248W|SEC14L1_ENST00000585618.1_Missense_Mutation_p.R282W|SEC14L1_ENST00000591437.1_Missense_Mutation_p.R248W|SEC14L1_ENST00000443798.4_Missense_Mutation_p.R282W|SEC14L1_ENST00000430767.4_Missense_Mutation_p.R282W|SEC14L1_ENST00000436233.4_Missense_Mutation_p.R282W	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	282					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R282W(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GCATATTCTTCGGTTCCTCCG	0.418																																					p.R282W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C844T	17						.						125.0	123.0	124.0					17																	75196590		2203	4300	6503	72708185	SO:0001583	missense	6397	exon9			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.844C>T	17.37:g.75196590C>T	ENSP00000394716:p.Arg282Trp		72708185	NM_001039573	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204837	0.79127	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	5.4	5.4	0.78164	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98635	1.0673	10	0.87932	D	0	-42.89	12.2459	0.54571	0.2663:0.7337:0.0:0.0	.	282;282	Q92503-2;Q92503	.;S14L1_HUMAN	W	282;282;282;282;282;248	ENSP00000376268:R282W;ENSP00000406030:R282W;ENSP00000390392:R282W;ENSP00000408169:R282W;ENSP00000394716:R282W;ENSP00000389838:R248W	ENSP00000376268:R282W	R	+	1	2	SEC14L1	72708185	0.990000	0.36364	0.990000	0.47175	0.846000	0.48090	2.868000	0.48436	2.683000	0.91414	0.655000	0.94253	CGG		0.418	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003	
FXR2	9513	broad.mit.edu	37	17	7507344	7507344	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7507344G>A	ENST00000250113.7	-	4	617	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	95	Agenet-like 2.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R95W(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TTCATCATCCGCACCCGGGCC	0.438																																					p.R95W												.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C283T	17						.						40.0	43.0	42.0					17																	7507344		1936	4137	6073	7448069	SO:0001583	missense	9513	exon4			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.283C>T	17.37:g.7507344G>A	ENSP00000250113:p.Arg95Trp		7448069	NM_004860	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	ENST00000250113.7	37	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449542	0.63178	.	.	ENSG00000129245	ENST00000250113	T	0.38887	1.11	5.22	4.24	0.50183	Agenet (1);	0.057295	0.64402	D	0.000005	T	0.61899	0.2384	M	0.70595	2.14	0.50467	D	0.999879	D;D	0.76494	0.998;0.999	D;D	0.75020	0.977;0.985	T	0.66452	-0.5920	10	0.87932	D	0	1.3141	13.1313	0.59385	0.0:0.0:0.8384:0.1616	.	95;95	Q86V09;P51116	.;FXR2_HUMAN	W	95	ENSP00000250113:R95W	ENSP00000250113:R95W	R	-	1	2	FXR2	7448069	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.030000	0.41108	1.311000	0.45024	-0.516000	0.04426	CGG		0.438	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		
TNRC6C	57690	broad.mit.edu	37	17	76094445	76094445	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:76094445C>T	ENST00000588061.1	+	19	5055	c.4328C>T	c.(4327-4329)tCg>tTg	p.S1443L	TNRC6C_ENST00000588847.1_Missense_Mutation_p.S1479L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.S1443L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S1479L|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S1443L|TNRC6C_ENST00000335749.4_Missense_Mutation_p.S1479L			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1443	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACATCAAATCGACGTGGTCC	0.517																																					p.S1443L												.	.	0			c.C4328T	17						.						57.0	60.0	59.0					17																	76094445		2030	4186	6216	73606040	SO:0001583	missense	57690	exon18			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4328C>T	17.37:g.76094445C>T	ENSP00000468647:p.Ser1443Leu		73606040	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923554	0.92319	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.19532	2.23;2.14;2.14;2.23	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.47414	0.1444	M	0.67700	2.07	0.54753	D	0.999988	D;D	0.89917	0.999;1.0	D;D	0.80764	0.99;0.994	T	0.47249	-0.9132	10	0.87932	D	0	-8.4065	19.0068	0.92854	0.0:1.0:0.0:0.0	.	1479;1443	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	L	1443;1479;1479;1443;1443;1479	ENSP00000336783:S1479L;ENSP00000301624:S1443L;ENSP00000440310:S1443L;ENSP00000442421:S1479L	ENSP00000301624:S1443L	S	+	2	0	TNRC6C	73606040	1.000000	0.71417	0.848000	0.33437	0.681000	0.39784	7.731000	0.84895	2.547000	0.85894	0.655000	0.94253	TCG		0.517	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
SAT2	112483	broad.mit.edu	37	17	7530096	7530096	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7530096G>A	ENST00000269298.5	-	5	539	c.320C>T	c.(319-321)tCc>tTc	p.S107F	SHBG_ENST00000340624.5_5'Flank|SAT2_ENST00000573566.1_Missense_Mutation_p.S73F|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000572182.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	107	Acetyl-CoA binding.|N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	GATTATTTTGGAACCAATCCC	0.507																																					p.S107F												.	.	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	c.C320T	17						.						118.0	114.0	115.0					17																	7530096		2203	4300	6503	7470821	SO:0001583	missense	112483	exon5			AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.320C>T	17.37:g.7530096G>A	ENSP00000269298:p.Ser107Phe		7470821	NM_133491		Missense_Mutation	SNP	ENST00000269298.5	37	CCDS11116.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909472	0.72868	.	.	ENSG00000141504	ENST00000380466;ENST00000269298	T	0.25912	1.77	5.07	5.07	0.68467	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.321965	0.33235	N	0.005138	T	0.44265	0.1285	M	0.80616	2.505	0.80722	D	1	D	0.56287	0.975	P	0.53266	0.722	T	0.43212	-0.9405	10	0.51188	T	0.08	-28.7208	13.8263	0.63352	0.0:0.0:1.0:0.0	.	107	Q96F10	SAT2_HUMAN	F	186;107	ENSP00000269298:S107F	ENSP00000269298:S107F	S	-	2	0	SAT2	7470821	0.994000	0.37717	1.000000	0.80357	0.858000	0.48976	2.815000	0.48018	2.633000	0.89246	0.557000	0.71058	TCC		0.507	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	NM_133491	
DNAH2	146754	broad.mit.edu	37	17	7637588	7637588	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7637588A>C	ENST00000572933.1	+	6	2176	c.716A>C	c.(715-717)aAa>aCa	p.K239T	DNAH2_ENST00000570791.1_Missense_Mutation_p.K239T|DNAH2_ENST00000082259.3_Missense_Mutation_p.K239T|DNAH2_ENST00000389173.2_Missense_Mutation_p.K239T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	239	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K239T(1)		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)				ATAAAGGACAAAGAGCTGGTG	0.552																																					p.K239T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A716C	17						.						85.0	74.0	78.0					17																	7637588		2203	4300	6503	7578313	SO:0001583	missense	146754	exon5			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.716A>C	17.37:g.7637588A>C	ENSP00000458355:p.Lys239Thr		7578313	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468959	0.84533	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55930	0.49;0.49	5.39	5.39	0.77823	Dynein heavy chain, domain-1 (1);	0.991489	0.08190	N	0.984054	T	0.71195	0.3311	L	0.59436	1.845	0.54753	D	0.999984	D;D	0.71674	0.997;0.998	D;D	0.75484	0.939;0.986	T	0.60662	-0.7219	10	0.49607	T	0.09	.	14.4022	0.67056	1.0:0.0:0.0:0.0	.	239;239	Q9P225;Q9P225-3	DYH2_HUMAN;.	T	239	ENSP00000373825:K239T;ENSP00000082259:K239T	ENSP00000082259:K239T	K	+	2	0	DNAH2	7578313	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.034000	0.70933	2.066000	0.61787	0.374000	0.22700	AAA		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7680919	7680919	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7680919C>A	ENST00000572933.1	+	33	6674	c.5214C>A	c.(5212-5214)gaC>gaA	p.D1738E	DNAH2_ENST00000389173.2_Missense_Mutation_p.D1738E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1738	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1738E(1)		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)				ATTCCTTTGACTGGCTCAGCC	0.483																																					p.D1738E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5214A	17						.						257.0	246.0	250.0					17																	7680919		2203	4300	6503	7621644	SO:0001583	missense	146754	exon32			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.5214C>A	17.37:g.7680919C>A	ENSP00000458355:p.Asp1738Glu		7621644	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	4.384	0.070786	0.08436	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.18174	2.23	5.49	2.32	0.28847	.	0.124460	0.52532	D	0.000079	T	0.03915	0.0110	N	0.01168	-0.975	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.36601	-0.9741	10	0.02654	T	1	.	5.9866	0.19438	0.0:0.4649:0.3357:0.1995	.	1738	Q9P225	DYH2_HUMAN	E	1738	ENSP00000373825:D1738E	ENSP00000353818:D1738E	D	+	3	2	DNAH2	7621644	0.987000	0.35691	1.000000	0.80357	0.992000	0.81027	0.112000	0.15479	0.686000	0.31488	0.585000	0.79938	GAC		0.483	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7689479	7689479	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7689479G>A	ENST00000572933.1	+	40	7627	c.6167G>A	c.(6166-6168)gGc>gAc	p.G2056D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2056D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2056	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G2056D(1)		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)				CGAGACATGGGCCTGCAAAGC	0.547																																					p.G2056D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6167A	17						.						85.0	78.0	80.0					17																	7689479		2203	4300	6503	7630204	SO:0001583	missense	146754	exon39			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.6167G>A	17.37:g.7689479G>A	ENSP00000458355:p.Gly2056Asp		7630204	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192477	0.58017	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.39406	1.08	5.07	4.08	0.47627	.	0.195388	0.43260	D	0.000591	T	0.45236	0.1332	M	0.76838	2.35	0.80722	D	1	B	0.17465	0.022	B	0.20577	0.03	T	0.48352	-0.9043	10	0.48119	T	0.1	.	12.9277	0.58270	0.0815:0.0:0.9185:0.0	.	2056	Q9P225	DYH2_HUMAN	D	2056	ENSP00000373825:G2056D	ENSP00000353818:G2056D	G	+	2	0	DNAH2	7630204	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.957000	0.63652	2.642000	0.89623	0.555000	0.69702	GGC		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7721304	7721304	+	Missense_Mutation	SNP	G	G	A	rs201968584		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7721304G>A	ENST00000572933.1	+	68	11737	c.10277G>A	c.(10276-10278)cGa>cAa	p.R3426Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3426Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3426	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)	p.R3426Q(1)		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)				GATTACCTGCGAATCCTAGAA	0.537																																					p.R3426Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10277A	17						.	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	147.0	133.0	138.0		10277	2.8	0.3	17		138	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH2	NM_020877.2	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	3426/4428	7721304	2,13004	2203	4300	6503	7662029	SO:0001583	missense	146754	exon67			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.10277G>A	17.37:g.7721304G>A	ENSP00000458355:p.Arg3426Gln		7662029	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410069	0.25465	2.27E-4	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.20069	2.1	4.87	2.84	0.33178	.	0.325349	0.28448	N	0.015314	T	0.24967	0.0606	M	0.67517	2.055	0.80722	D	1	B;B	0.21905	0.051;0.062	B;B	0.31614	0.056;0.133	T	0.04440	-1.0951	10	0.48119	T	0.1	.	9.3699	0.38248	0.1823:0.0:0.8177:0.0	.	3387;3426	Q9P225-2;Q9P225	.;DYH2_HUMAN	Q	3387;3426	ENSP00000373825:R3426Q	ENSP00000353818:R3387Q	R	+	2	0	DNAH2	7662029	0.698000	0.27777	0.334000	0.25495	0.117000	0.20001	0.852000	0.27764	0.607000	0.29982	0.563000	0.77884	CGA		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH2	146754	broad.mit.edu	37	17	7722627	7722627	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7722627T>C	ENST00000572933.1	+	72	12376	c.10916T>C	c.(10915-10917)aTc>aCc	p.I3639T	DNAH2_ENST00000389173.2_Missense_Mutation_p.I3639T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3639					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I3639T(1)		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)				GATGCCTACATCAGCCTCTTT	0.527																																					p.I3639T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10916C	17						.						113.0	98.0	103.0					17																	7722627		2203	4300	6503	7663352	SO:0001583	missense	146754	exon71			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.10916T>C	17.37:g.7722627T>C	ENSP00000458355:p.Ile3639Thr		7663352	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665638	0.47677	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.55930	0.49	4.02	4.02	0.46733	.	0.076103	0.49916	D	0.000133	T	0.44871	0.1314	L	0.31804	0.96	0.80722	D	1	P;P	0.42010	0.712;0.768	P;B	0.44447	0.45;0.347	T	0.42120	-0.9470	10	0.41790	T	0.15	.	12.3473	0.55128	0.0:0.0:0.0:1.0	.	3600;3639	Q9P225-2;Q9P225	.;DYH2_HUMAN	T	3600;3639	ENSP00000373825:I3639T	ENSP00000353818:I3600T	I	+	2	0	DNAH2	7663352	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.639000	0.67868	1.808000	0.52836	0.459000	0.35465	ATC		0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
CHD3	1107	broad.mit.edu	37	17	7801400	7801400	+	Missense_Mutation	SNP	G	G	T	rs553587846		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7801400G>T	ENST00000330494.7	+	12	2181	c.2031G>T	c.(2029-2031)aaG>aaT	p.K677N	CHD3_ENST00000380358.4_Missense_Mutation_p.K736N|CHD3_ENST00000358181.4_Missense_Mutation_p.K677N	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	677					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K677N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAGAACATAAGCAAAGCTACT	0.448																																					p.K677N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2031T	17						.						180.0	172.0	174.0					17																	7801400		2203	4300	6503	7742125	SO:0001583	missense	1107	exon12			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2031G>T	17.37:g.7801400G>T	ENSP00000332628:p.Lys677Asn		7742125	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496985	0.44352	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.71934	-0.61;-0.61;-0.61	4.99	-0.43	0.12299	Chromo domain (1);Chromo domain/shadow (1);	0.000000	0.48286	D	0.000184	T	0.80793	0.4691	M	0.80982	2.52	0.37400	D	0.912813	D;D;D	0.71674	0.995;0.996;0.998	D;D;D	0.69824	0.919;0.951;0.966	T	0.82049	-0.0650	10	0.54805	T	0.06	-31.9266	10.9708	0.47438	0.4594:0.0:0.5406:0.0	.	677;677;736	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	N	736;677;677	ENSP00000369716:K736N;ENSP00000350907:K677N;ENSP00000332628:K677N	ENSP00000332628:K677N	K	+	3	2	CHD3	7742125	0.168000	0.22989	0.999000	0.59377	0.992000	0.81027	0.350000	0.20079	0.100000	0.17581	0.561000	0.74099	AAG		0.448	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
CHD3	1107	broad.mit.edu	37	17	7803967	7803967	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7803967C>T	ENST00000330494.7	+	18	3046	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	CHD3_ENST00000380358.4_Missense_Mutation_p.R1025W|CHD3_ENST00000358181.4_Missense_Mutation_p.R966W	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	966					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R966W(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACACATGCTGCGGAGACTCAA	0.517																																					p.R966W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2896T	17						.						72.0	71.0	71.0					17																	7803967		2203	4300	6503	7744692	SO:0001583	missense	1107	exon18			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2896C>T	17.37:g.7803967C>T	ENSP00000332628:p.Arg966Trp		7744692	NM_005852	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849388	0.51270	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.95588	-3.75;-3.75;-3.75	4.73	3.75	0.43078	SNF2-related (1);	0.000000	0.39407	N	0.001368	D	0.98635	0.9543	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	D	0.99581	1.0973	10	0.87932	D	0	-21.7737	14.7989	0.69898	0.1452:0.8548:0.0:0.0	.	966;966;1025	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	W	1025;966;966	ENSP00000369716:R1025W;ENSP00000350907:R966W;ENSP00000332628:R966W	ENSP00000332628:R966W	R	+	1	2	CHD3	7744692	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	1.371000	0.34250	1.354000	0.45846	0.561000	0.74099	CGG		0.517	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
CNTROB	116840	broad.mit.edu	37	17	7851025	7851025	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7851025G>T	ENST00000563694.1	+	14	3055	c.2130G>T	c.(2128-2130)aaG>aaT	p.K710N	CNTROB_ENST00000565740.1_Missense_Mutation_p.K710N|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000380262.3_Missense_Mutation_p.K710N	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	710	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)	p.K710N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AGGGCCTCAAGAATTTTTTGC	0.542																																					p.K710N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2130T	17						.						79.0	86.0	84.0					17																	7851025		2203	4300	6503	7791750	SO:0001583	missense	116840	exon14			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2130G>T	17.37:g.7851025G>T	ENSP00000456335:p.Lys710Asn		7791750	NM_053051	A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709554	0.68730	.	.	ENSG00000170037	ENST00000380262	T	0.11385	2.78	5.41	4.44	0.53790	.	0.127688	0.36628	N	0.002499	T	0.16214	0.0390	L	0.29908	0.895	0.80722	D	1	D;D;D	0.69078	0.99;0.99;0.997	P;P;P	0.58266	0.836;0.836;0.836	T	0.01280	-1.1397	10	0.87932	D	0	-35.5196	9.8704	0.41170	0.0917:0.0:0.9083:0.0	.	710;710;710	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	N	710	ENSP00000369614:K710N	ENSP00000369614:K710N	K	+	3	2	CNTROB	7791750	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.931000	0.40134	1.513000	0.48852	0.561000	0.74099	AAG		0.542	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051	
C1QTNF1	114897	broad.mit.edu	37	17	77043760	77043760	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:77043760G>A	ENST00000339142.2	+	5	991	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A146T|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A146T|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A156T|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A146T|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A146T|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A64T|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A64T|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A146T|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A146T	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	146	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)	p.A64T(1)|p.A146T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GAGCCACTACGCCGCCTTTTC	0.607																																					p.A146T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G436A	17						.						68.0	66.0	67.0					17																	77043760		2203	4300	6503	74555355	SO:0001583	missense	114897	exon4			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.436G>A	17.37:g.77043760G>A	ENSP00000340864:p.Ala146Thr		74555355	NM_198593	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	ENST00000339142.2	37	CCDS11761.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500035	0.85176	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.92858	-3.12;-3.12;-3.12	5.33	5.33	0.75918	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.000000	0.64402	D	0.000001	D	0.94941	0.8364	M	0.86028	2.79	0.54753	D	0.999987	P;P;D	0.61697	0.946;0.886;0.99	B;B;P	0.51170	0.266;0.266;0.661	D	0.95418	0.8504	10	0.62326	D	0.03	.	19.0092	0.92865	0.0:0.0:1.0:0.0	.	156;156;146	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	T	146;64;156;146;156	ENSP00000340864:A146T;ENSP00000311265:A64T;ENSP00000343230:A156T	ENSP00000311265:A64T	A	+	1	0	C1QTNF1	74555355	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	4.552000	0.60747	2.482000	0.83794	0.561000	0.74099	GCC		0.607	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437388.2	NM_030968	
NARF	26502	broad.mit.edu	37	17	80422207	80422207	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:80422207C>T	ENST00000309794.11	+	3	351	c.153C>T	c.(151-153)agC>agT	p.S51S	NARF_ENST00000390006.4_5'UTR|NARF_ENST00000345415.7_Intron|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000457415.3_Silent_p.S51S	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	51						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.S51S(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TATTTTTGAGCGACTGCCTGG	0.438																																					p.S51S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C153T	17						.						136.0	127.0	130.0					17																	80422207		2203	4300	6503	78015496	SO:0001819	synonymous_variant	26502	exon3			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.153C>T	17.37:g.80422207C>T			78015496	NM_031968	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Silent	SNP	ENST00000309794.11	37	CCDS32777.1																																																																																				0.438	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968	
ALOX15B	247	broad.mit.edu	37	17	7950318	7950318	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:7950318C>T	ENST00000380183.4	+	10	1520	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	ALOX15B_ENST00000573359.1_Missense_Mutation_p.R432W|ALOX15B_ENST00000380173.2_Missense_Mutation_p.R432W|ALOX15B_ENST00000572022.1_Missense_Mutation_p.R461W	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	461	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)	p.R461W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGAGGATATCCGGACCCGAGG	0.552																																					p.R432W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1294T	17						.						100.0	93.0	95.0					17																	7950318		2203	4300	6503	7891043	SO:0001583	missense	247	exon9			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1381C>T	17.37:g.7950318C>T	ENSP00000369530:p.Arg461Trp		7891043	NM_001039130	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870111	0.51588	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.76709	-1.04;-1.04	4.69	2.5	0.30297	Lipoxygenase, C-terminal (3);	0.693986	0.14458	N	0.318346	D	0.83031	0.5166	M	0.69823	2.125	0.09310	N	1	D;D;D;D	0.76494	0.995;0.998;0.998;0.999	P;P;P;P	0.58970	0.849;0.764;0.764;0.849	T	0.72037	-0.4411	10	0.72032	D	0.01	-20.8522	9.1454	0.36930	0.13:0.5687:0.3013:0.0	.	461;432;432;461	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	W	432;432;461	ENSP00000369520:R432W;ENSP00000369530:R461W	ENSP00000344337:R432W	R	+	1	2	ALOX15B	7891043	0.000000	0.05858	0.350000	0.25708	0.967000	0.64934	-1.346000	0.02634	1.073000	0.40885	0.655000	0.94253	CGG		0.552	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2		
ALOXE3	59344	broad.mit.edu	37	17	8018996	8018996	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:8018996A>C	ENST00000448843.2	-	4	703	c.363T>G	c.(361-363)atT>atG	p.I121M	ALOXE3_ENST00000318227.3_Missense_Mutation_p.I253M|ALOXE3_ENST00000380149.1_Missense_Mutation_p.I277M	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	121	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.I121M(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						AGTCCTGACAAATAGTTCTTG	0.507																																					p.I253M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T759G	17						.						114.0	109.0	111.0					17																	8018996		2203	4300	6503	7959721	SO:0001583	missense	59344	exon4			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.363T>G	17.37:g.8018996A>C	ENSP00000400581:p.Ile121Met		7959721	NM_001165960	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811857	0.32053	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90069	-2.61;-2.61;-2.61	5.44	0.226	0.15353	Lipoxygenase, C-terminal (2);	0.607598	0.18485	N	0.139837	T	0.79534	0.4462	L	0.38175	1.15	0.21445	N	0.999689	B;B;B	0.18968	0.001;0.032;0.032	B;B;B	0.23150	0.007;0.044;0.044	T	0.65096	-0.6251	10	0.35671	T	0.21	-2.9998	3.922	0.09248	0.4732:0.1943:0.3325:0.0	.	253;121;121	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	M	277;253;121	ENSP00000369494:I277M;ENSP00000314879:I253M;ENSP00000400581:I121M	ENSP00000314879:I253M	I	-	3	3	ALOXE3	7959721	0.793000	0.28825	0.951000	0.38953	0.895000	0.52256	-0.051000	0.11885	0.355000	0.24131	0.379000	0.24179	ATT		0.507	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
TMEM107	84314	broad.mit.edu	37	17	8077865	8077865	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:8077865G>A	ENST00000437139.2	-	4	413	c.326C>T	c.(325-327)aCg>aTg	p.T109M	RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000532998.1_3'UTR|SNORD118_ENST00000363593.1_RNA|TMEM107_ENST00000316425.5_Missense_Mutation_p.T115M|TMEM107_ENST00000533070.1_Missense_Mutation_p.T115M|TMEM107_ENST00000431792.2_Intron	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	109					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)		p.T115M(1)		large_intestine(1)|lung(4)|ovary(1)	6						GTACCAATACGTAGTGCACTC	0.498																																					p.T109M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C326T	17						.						261.0	236.0	244.0					17																	8077865		2203	4300	6503	8018590	SO:0001583	missense	84314	exon4			AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.326C>T	17.37:g.8077865G>A	ENSP00000402732:p.Thr109Met		8018590	NM_183065	A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Missense_Mutation	SNP	ENST00000437139.2	37	CCDS45607.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213802	0.39102	.	.	ENSG00000179029	ENST00000437139;ENST00000533070;ENST00000316425	.	.	.	5.91	3.91	0.45181	.	2.229870	0.01713	N	0.027855	T	0.47469	0.1447	L	0.36672	1.1	0.32960	D	0.52093	B;B;B	0.18013	0.013;0.025;0.025	B;B;B	0.16289	0.01;0.015;0.009	T	0.34925	-0.9809	9	0.34782	T	0.22	.	9.5279	0.39175	0.1667:0.0:0.8333:0.0	.	115;115;109	Q6UX40-3;Q6UX40-4;Q6UX40	.;.;TM107_HUMAN	M	109;115;115	.	ENSP00000314116:T115M	T	-	2	0	TMEM107	8018590	0.000000	0.05858	0.738000	0.30950	0.975000	0.68041	0.423000	0.21313	1.508000	0.48769	0.542000	0.68232	ACG		0.498	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388844.1	NM_032354	
ARHGEF15	22899	broad.mit.edu	37	17	8216438	8216438	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:8216438G>A	ENST00000361926.3	+	3	910	c.800G>A	c.(799-801)cGc>cAc	p.R267H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R267H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	267					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R267H(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						ACATCCTACCGCTCCACTGCT	0.662																																					p.R267H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G800A	17						.						68.0	60.0	62.0					17																	8216438		2203	4300	6503	8157163	SO:0001583	missense	22899	exon3			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.800G>A	17.37:g.8216438G>A	ENSP00000355026:p.Arg267His		8157163	NM_173728	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827281	0.32329	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.50277	0.75;0.75	5.13	5.13	0.70059	.	0.278938	0.31041	N	0.008362	T	0.55940	0.1952	L	0.29908	0.895	0.38131	D	0.938153	D	0.89917	1.0	D	0.72075	0.976	T	0.60939	-0.7163	10	0.62326	D	0.03	-23.2911	13.9397	0.64048	0.0:0.0:1.0:0.0	.	267	O94989	ARHGF_HUMAN	H	267	ENSP00000355026:R267H;ENSP00000412505:R267H	ENSP00000355026:R267H	R	+	2	0	ARHGEF15	8157163	0.998000	0.40836	1.000000	0.80357	0.526000	0.34562	3.313000	0.51935	2.667000	0.90743	0.561000	0.74099	CGC		0.662	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728	
PIK3R6	146850	broad.mit.edu	37	17	8722471	8722471	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:8722471T>C	ENST00000311434.9	-	19	2161	c.1922A>G	c.(1921-1923)gAc>gGc	p.D641G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	642					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										ACATGTGTGGTCTGTGACAGG	0.522																																					p.T642A												.	.	0			c.A1924G	17						.						47.0	48.0	48.0					17																	8722471		2031	4180	6211	8663196	SO:0001583	missense	146850	exon18			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1922A>G	17.37:g.8722471T>C	ENSP00000475670:p.Asp641Gly		8663196	NM_001010855	Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37																																																																																					0.522	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855	
NTN1	9423	broad.mit.edu	37	17	9066190	9066190	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:9066190C>T	ENST00000173229.2	+	3	1186	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	NTN1_ENST00000546090.1_Missense_Mutation_p.S360L|NTN1_ENST00000538852.1_Missense_Mutation_p.S360L	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	360	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S360L(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						TACAAGCTTTCGGGGCGCAAG	0.637																																					p.S360L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1079T	17						.						51.0	50.0	50.0					17																	9066190		2203	4300	6503	9006915	SO:0001583	missense	9423	exon3			U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1079C>T	17.37:g.9066190C>T	ENSP00000173229:p.Ser360Leu		9006915	NM_004822	E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210590	0.95069	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.38722	1.12;1.12;1.12	4.62	4.62	0.57501	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.78065	0.4225	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87498	0.2431	10	0.87932	D	0	.	17.8204	0.88649	0.0:1.0:0.0:0.0	.	360	O95631	NET1_HUMAN	L	360	ENSP00000173229:S360L;ENSP00000443259:S360L;ENSP00000441611:S360L	ENSP00000173229:S360L	S	+	2	0	NTN1	9006915	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.395000	0.79876	2.293000	0.77203	0.650000	0.86243	TCG		0.637	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1		
STX8	9482	broad.mit.edu	37	17	9281920	9281920	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:9281920G>A	ENST00000306357.4	-	7	1019	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	STX8_ENST00000574431.1_Missense_Mutation_p.R87C	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	198	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.R198C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						GTTTCATTGCGAAGTTTTTCA	0.428																																					p.R198C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C592T	17						.						266.0	251.0	256.0					17																	9281920		2203	4300	6503	9222645	SO:0001583	missense	9482	exon7			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.592C>T	17.37:g.9281920G>A	ENSP00000305255:p.Arg198Cys		9222645	NM_004853	O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699663	0.68501	.	.	ENSG00000170310	ENST00000306357	.	.	.	6.01	4.86	0.63082	Target SNARE coiled-coil domain (3);	0.169069	0.52532	D	0.000071	T	0.75824	0.3902	M	0.80422	2.495	0.80722	D	1	D	0.69078	0.997	P	0.60173	0.87	T	0.77294	-0.2641	9	0.52906	T	0.07	-8.214	13.0973	0.59200	0.0879:0.0:0.9121:0.0	.	198	Q9UNK0	STX8_HUMAN	C	198	.	ENSP00000305255:R198C	R	-	1	0	STX8	9222645	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	3.395000	0.52558	2.861000	0.98227	0.650000	0.86243	CGC		0.428	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853	
STX8	9482	broad.mit.edu	37	17	9471725	9471725	+	Missense_Mutation	SNP	C	C	T	rs140592918		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:9471725C>T	ENST00000306357.4	-	2	507	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	STX8_ENST00000574431.1_Intron|STX8_ENST00000573373.1_5'UTR	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8	27					endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.R27Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						ATATTGATTTCGTTGTTGAAT	0.368																																					p.R27Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G80A	17						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	180.0	138.0	152.0		80	4.7	1.0	17	dbSNP_134	152	5,8595	4.3+/-15.6	0,5,4295	yes	missense	STX8	NM_004853.2	43	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	possibly-damaging	27/237	9471725	6,13000	2203	4300	6503	9412450	SO:0001583	missense	9482	exon2			AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.80G>A	17.37:g.9471725C>T	ENSP00000305255:p.Arg27Gln		9412450	NM_004853	O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011431	0.75046	2.27E-4	5.81E-4	ENSG00000170310	ENST00000306357	.	.	.	5.67	4.68	0.58851	.	0.127419	0.51477	N	0.000091	T	0.47525	0.1450	L	0.46157	1.445	0.42896	D	0.994218	B	0.27450	0.179	B	0.22880	0.042	T	0.40757	-0.9546	9	0.27082	T	0.32	.	11.074	0.48021	0.0:0.9091:0.0:0.0909	.	27	Q9UNK0	STX8_HUMAN	Q	27	.	ENSP00000305255:R27Q	R	-	2	0	STX8	9412450	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	2.607000	0.46300	1.337000	0.45525	0.655000	0.94253	CGA		0.368	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853	
RCVRN	5957	broad.mit.edu	37	17	9808279	9808279	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:9808279G>A	ENST00000226193.5	-	1	659	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.F73F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGTTGGAATCGAAGCTGCGGA	0.617																																					p.F73F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C219T	17						.						179.0	134.0	149.0					17																	9808279		2203	4300	6503	9749004	SO:0001819	synonymous_variant	5957	exon1			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.219C>T	17.37:g.9808279G>A			9749004	NM_002903	Q53XL0	Silent	SNP	ENST00000226193.5	37	CCDS11151.1																																																																																				0.617	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252600.2	NM_002903	
ZNF750	79755	broad.mit.edu	37	17	80788323	80788323	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr17:80788323C>T	ENST00000269394.3	-	3	2700	c.1867G>A	c.(1867-1869)Gcg>Acg	p.A623T	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A224T|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	623					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A623T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGTCCACCGCGCATGCGTCT	0.706																																					p.A623T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1867A	17						.						27.0	30.0	29.0					17																	80788323		2201	4299	6500	78381612	SO:0001583	missense	79755	exon3			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1867G>A	17.37:g.80788323C>T	ENSP00000269394:p.Ala623Thr		78381612	NM_024702	Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	C	9.625	1.134941	0.21123	.	.	ENSG00000141579	ENST00000269394;ENST00000543850	T	0.13778	2.56	4.96	-2.91	0.05631	.	1.359000	0.05134	N	0.493108	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.37888	-0.9686	9	.	.	.	0.0718	3.0448	0.06149	0.1326:0.1701:0.1316:0.5657	.	623	Q32MQ0	ZN750_HUMAN	T	623;216	ENSP00000269394:A623T	.	A	-	1	0	ZNF750	78381612	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.640000	0.05440	-0.334000	0.08463	-0.948000	0.02665	GCG		0.706	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702	
PIEZO2	63895	broad.mit.edu	37	18	10671583	10671583	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:10671583T>C	ENST00000503781.3	-	52	8199	c.8200A>G	c.(8200-8202)Ata>Gta	p.I2734V	PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000285141.4_Missense_Mutation_p.I526V|PIEZO2_ENST00000302079.6_Missense_Mutation_p.I2671V|PIEZO2_ENST00000580640.1_Missense_Mutation_p.I2759V|PIEZO2_ENST00000538948.1_Missense_Mutation_p.I691V	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2734					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.I2734V(1)|p.I526V(1)									TATAGGAATATTAATTTGGCA	0.348																																					p.I2734V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A8200G	18						.						105.0	98.0	100.0					18																	10671583		2203	4300	6503	10661583	SO:0001583	missense	63895	exon52			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8200A>G	18.37:g.10671583T>C	ENSP00000421377:p.Ile2734Val		10661583	NM_022068	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37		.	.	.	.	.	.	.	.	.	.	T	19.13	3.768387	0.69878	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.74632	-0.86;-0.86	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.83718	0.5315	M	0.70842	2.15	0.39552	D	0.968995	D	0.76494	0.999	D	0.87578	0.998	T	0.82665	-0.0345	10	0.24483	T	0.36	.	14.3521	0.66711	0.0:0.0:0.0:1.0	.	628	D6RFZ0	.	V	628;2734;691;526	ENSP00000443129:I691V;ENSP00000285141:I526V	ENSP00000285141:I526V	I	-	1	0	FAM38B	10661583	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.808000	0.86044	1.995000	0.58328	0.460000	0.39030	ATA		0.348	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068	
PIEZO2	63895	broad.mit.edu	37	18	10696504	10696504	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:10696504G>T	ENST00000503781.3	-	42	6521	c.6522C>A	c.(6520-6522)ttC>ttA	p.F2174L	PIEZO2_ENST00000285141.4_Missense_Mutation_p.F29L|PIEZO2_ENST00000302079.6_Missense_Mutation_p.F2174L|PIEZO2_ENST00000580640.1_Missense_Mutation_p.F2199L|PIEZO2_ENST00000538948.1_Missense_Mutation_p.F131L	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2174					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)	p.F29L(1)|p.F2174L(1)									GGTTGTAAAAGAACTGTTTGA	0.512																																					p.F2174L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6522A	18						.						153.0	133.0	140.0					18																	10696504		2203	4300	6503	10686504	SO:0001583	missense	63895	exon42			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6522C>A	18.37:g.10696504G>T	ENSP00000421377:p.Phe2174Leu		10686504	NM_022068	B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37		.	.	.	.	.	.	.	.	.	.	G	17.45	3.392857	0.62066	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	D;D;D	0.84070	-1.8;-1.8;-1.8	5.21	3.43	0.39272	.	0.000000	0.64402	D	0.000003	D	0.90438	0.7006	M	0.89353	3.025	0.51482	D	0.999924	D	0.89917	1.0	D	0.85130	0.997	D	0.88705	0.3218	10	0.66056	D	0.02	.	6.6066	0.22729	0.4079:0.0:0.5921:0.0	.	131	D6RFZ0	.	L	131;2174;131;29	ENSP00000303316:F2174L;ENSP00000443129:F131L;ENSP00000285141:F29L	ENSP00000285141:F29L	F	-	3	2	FAM38B	10686504	1.000000	0.71417	0.999000	0.59377	0.633000	0.38033	2.506000	0.45433	0.601000	0.29879	-0.136000	0.14681	TTC		0.512	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068	
GNAL	2774	broad.mit.edu	37	18	11753891	11753891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:11753891C>T	ENST00000423027.3	+	4	661	c.340C>T	c.(340-342)Cga>Tga	p.R114*	GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000334049.6_Nonsense_Mutation_p.R191*|GNAL_ENST00000535121.1_Nonsense_Mutation_p.R114*|GNAL_ENST00000269162.5_Nonsense_Mutation_p.R114*			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	114					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R191*(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AAACCAATTTCGATCAGACTA	0.363																																					p.R114X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C340T	18						.						97.0	95.0	96.0					18																	11753891		2203	4300	6503	11743891	SO:0001587	stop_gained	2774	exon5			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.340C>T	18.37:g.11753891C>T	ENSP00000408489:p.Arg114*		11743891	NM_001142339	B7ZA26|Q86XU3	Nonsense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	C	39	7.293053	0.98192	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	.	.	.	5.69	3.89	0.44902	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1235	0.72463	0.2583:0.7417:0.0:0.0	.	.	.	.	X	53;191;114;114;114	.	ENSP00000269162:R114X	R	+	1	2	GNAL	11743891	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	2.988000	0.49386	0.743000	0.32719	-0.310000	0.09108	CGA		0.363	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071	
GNAL	2774	broad.mit.edu	37	18	11824922	11824922	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:11824922C>A	ENST00000423027.3	+	5	720	c.399C>A	c.(397-399)ttC>ttA	p.F133L	GNAL_ENST00000590972.1_3'UTR|GNAL_ENST00000269162.5_Missense_Mutation_p.F133L|GNAL_ENST00000535121.1_Missense_Mutation_p.F133L|GNAL_ENST00000334049.6_Missense_Mutation_p.F210L			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	133					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.F210L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TTTAGGAATTCTTTGACCATG	0.328																																					p.F133L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C399A	18						.						94.0	89.0	91.0					18																	11824922		2203	4300	6503	11814922	SO:0001583	missense	2774	exon6			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.399C>A	18.37:g.11824922C>A	ENSP00000408489:p.Phe133Leu		11814922	NM_001142339	B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088826	0.36855	.	.	ENSG00000141404	ENST00000540217;ENST00000334049;ENST00000535121;ENST00000269162;ENST00000423027	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	5.66	5.66	0.87406	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.85600	0.5734	L	0.31207	0.915	0.80722	D	1	D;D	0.71674	0.998;0.974	D;P	0.63957	0.92;0.873	T	0.80708	-0.1262	10	0.02654	T	1	.	11.9375	0.52882	0.0:0.9193:0.0:0.0807	.	133;210	P38405;Q86XU3	GNAL_HUMAN;.	L	72;210;133;133;133	ENSP00000334051:F210L;ENSP00000439023:F133L;ENSP00000269162:F133L;ENSP00000408489:F133L	ENSP00000269162:F133L	F	+	3	2	GNAL	11814922	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.211000	0.42825	2.681000	0.91329	0.585000	0.79938	TTC		0.328	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071	
TUBB6	84617	broad.mit.edu	37	18	12311000	12311000	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:12311000C>T	ENST00000317702.5	+	3	459	c.225C>T	c.(223-225)agC>agT	p.S75S	TUBB6_ENST00000591208.1_Silent_p.S75S|TUBB6_ENST00000591909.1_Silent_p.S75S|TUBB6_ENST00000586653.1_Silent_p.S75S|TUBB6_ENST00000590967.1_Silent_p.S75S|TUBB6_ENST00000592683.1_Silent_p.S75S			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	75					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S75S(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CCATGGACAGCGTGCGGTCTG	0.483																																					p.S75S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C225T	18						.						90.0	81.0	84.0					18																	12311000		2203	4300	6503	12301000	SO:0001819	synonymous_variant	84617	exon3			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.225C>T	18.37:g.12311000C>T			12301000	NM_032525	B3KM76|Q9HA42	Silent	SNP	ENST00000317702.5	37	CCDS11858.1																																																																																				0.483	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525	
AFG3L2	10939	broad.mit.edu	37	18	12337383	12337383	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:12337383C>A	ENST00000269143.3	-	16	2363	c.2132G>T	c.(2131-2133)aGa>aTa	p.R711I		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	711					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.R711I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCTACTGTTCTTTTATAAGC	0.393																																					p.R711I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2132T	18						.						133.0	128.0	130.0					18																	12337383		2203	4300	6503	12327383	SO:0001583	missense	10939	exon16			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.2132G>T	18.37:g.12337383C>A	ENSP00000269143:p.Arg711Ile		12327383	NM_006796	Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326150	0.95708	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.84298	-1.83	5.62	5.62	0.85841	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.043472	0.85682	D	0.000000	D	0.91389	0.7283	M	0.83012	2.62	0.80722	D	1	P	0.49559	0.925	P	0.53689	0.732	D	0.92264	0.5819	10	0.87932	D	0	.	19.6586	0.95855	0.0:1.0:0.0:0.0	.	711	Q9Y4W6	AFG32_HUMAN	I	711;726	ENSP00000269143:R711I	ENSP00000269143:R711I	R	-	2	0	AFG3L2	12327383	0.977000	0.34250	0.997000	0.53966	0.996000	0.88848	3.540000	0.53611	2.656000	0.90262	0.655000	0.94253	AGA		0.393	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796	
MC5R	4161	broad.mit.edu	37	18	13825840	13825840	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:13825840G>C	ENST00000324750.3	+	1	298	c.76G>C	c.(76-78)Gtc>Ctc	p.V26L	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	26					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						AGGACCCAATGTCAAAAACAA	0.463																																					p.V26L												.	.	0			c.G76C	18						.						86.0	84.0	85.0					18																	13825840		2203	4300	6503	13815840	SO:0001583	missense	4161	exon1			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.76G>C	18.37:g.13825840G>C	ENSP00000318077:p.Val26Leu		13815840	NM_005913	B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.682753	0.00745	.	.	ENSG00000176136	ENST00000324750	T	0.27890	1.64	5.3	0.913	0.19354	.	0.659654	0.13800	N	0.361902	T	0.15739	0.0379	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.12837	0.008	T	0.21621	-1.0240	10	0.44086	T	0.13	.	10.9154	0.47133	0.3052:0.0:0.6948:0.0	.	26	P33032	MC5R_HUMAN	L	26	ENSP00000318077:V26L	ENSP00000318077:V26L	V	+	1	0	MC5R	13815840	0.050000	0.20438	0.001000	0.08648	0.017000	0.09413	1.933000	0.40153	0.237000	0.21200	0.455000	0.32223	GTC		0.463	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
MC5R	4161	broad.mit.edu	37	18	13826099	13826099	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:13826099G>A	ENST00000324750.3	+	1	557	c.335G>A	c.(334-336)cGc>cAc	p.R112H	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	112					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.R112H(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCCTTTGTGCGCCACATTGAC	0.522																																					p.R112H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G335A	18						.						150.0	122.0	132.0					18																	13826099		2203	4300	6503	13816099	SO:0001583	missense	4161	exon1			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.335G>A	18.37:g.13826099G>A	ENSP00000318077:p.Arg112His		13816099	NM_005913	B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328435	0.60743	.	.	ENSG00000176136	ENST00000324750	T	0.20332	2.08	5.01	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.103679	0.64402	D	0.000005	T	0.52141	0.1716	M	0.91612	3.225	0.48511	D	0.99966	D	0.76494	0.999	D	0.68192	0.956	T	0.62803	-0.6777	10	0.72032	D	0.01	.	12.7001	0.57026	0.0813:0.0:0.9187:0.0	.	112	P33032	MC5R_HUMAN	H	112	ENSP00000318077:R112H	ENSP00000318077:R112H	R	+	2	0	MC5R	13816099	1.000000	0.71417	0.869000	0.34112	0.756000	0.42949	4.425000	0.59875	1.083000	0.41159	0.455000	0.32223	CGC		0.522	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
LAMA3	3909	broad.mit.edu	37	18	21451576	21451576	+	Missense_Mutation	SNP	C	C	T	rs202016761		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:21451576C>T	ENST00000313654.9	+	38	5190	c.4949C>T	c.(4948-4950)gCt>gTt	p.A1650V	LAMA3_ENST00000587184.1_5'Flank|LAMA3_ENST00000399516.3_Missense_Mutation_p.A1650V|LAMA3_ENST00000269217.6_5'Flank	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1650	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.A1650V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATAGCACTTGCTGTGGAAATC	0.577																																					p.A1650V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4949T	18						.	C	VAL/ALA,VAL/ALA	0,4116		0,0,2058	61.0	72.0	68.0		4949,4949	-0.8	0.0	18		68	1,8399		0,1,4199	yes	missense,missense	LAMA3	NM_001127717.1,NM_198129.1	64,64	0,1,6257	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	1650/3278,1650/3334	21451576	1,12515	2058	4200	6258	19705574	SO:0001583	missense	3909	exon38			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4949C>T	18.37:g.21451576C>T	ENSP00000324532:p.Ala1650Val		19705574	NM_198129	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653142	0.14580	0.0	1.19E-4	ENSG00000053747	ENST00000313654;ENST00000399516	T;T	0.35789	1.29;1.29	5.43	-0.755	0.11061	Laminin B type IV (2);Growth factor, receptor (1);	.	.	.	.	T	0.23014	0.0556	L	0.39898	1.24	0.09310	N	0.999999	B;B	0.27013	0.166;0.104	B;B	0.25614	0.062;0.062	T	0.22800	-1.0206	9	0.25751	T	0.34	.	3.7483	0.08556	0.455:0.3351:0.0659:0.144	.	1650;1650	Q6VU67;Q16787	.;LAMA3_HUMAN	V	1650	ENSP00000324532:A1650V;ENSP00000382432:A1650V	ENSP00000324532:A1650V	A	+	2	0	LAMA3	19705574	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.469000	0.06648	-0.281000	0.09141	-0.262000	0.10625	GCT		0.577	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
IMPACT	55364	broad.mit.edu	37	18	22008838	22008838	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:22008838G>A	ENST00000284202.4	+	3	312	c.171G>A	c.(169-171)atG>atA	p.M57I	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	57	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.M57I(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TGTAGGTGATGCTGCCGAATG	0.363																																					p.M57I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G171A	18						.						124.0	110.0	115.0					18																	22008838		2203	4300	6503	20262836	SO:0001583	missense	55364	exon3			AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.171G>A	18.37:g.22008838G>A	ENSP00000284202:p.Met57Ile		20262836	NM_018439	A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359029	0.24598	.	.	ENSG00000154059	ENST00000284202	T	0.20069	2.1	4.95	3.94	0.45596	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.141996	0.64402	D	0.000007	T	0.07593	0.0191	N	0.02315	-0.6	0.35220	D	0.775935	B	0.02656	0.0	B	0.08055	0.003	T	0.12993	-1.0526	10	0.34782	T	0.22	.	7.0507	0.25071	0.0:0.1421:0.5237:0.3342	.	57	Q9P2X3	IMPCT_HUMAN	I	57	ENSP00000284202:M57I	ENSP00000284202:M57I	M	+	3	0	IMPACT	20262836	1.000000	0.71417	0.992000	0.48379	0.732000	0.41865	1.895000	0.39778	2.434000	0.82447	0.561000	0.74099	ATG		0.363	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	
IMPACT	55364	broad.mit.edu	37	18	22030789	22030789	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:22030789A>G	ENST00000284202.4	+	11	1082	c.941A>G	c.(940-942)gAc>gGc	p.D314G		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	314					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.D314G(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GTAAGAAAAGACAAGAAGAGG	0.328																																					p.D314G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A941G	18						.						105.0	101.0	102.0					18																	22030789		2203	4300	6503	20284787	SO:0001583	missense	55364	exon11			AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.941A>G	18.37:g.22030789A>G	ENSP00000284202:p.Asp314Gly		20284787	NM_018439	A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.495461	0.26774	.	.	ENSG00000154059	ENST00000284202	T	0.32988	1.43	5.44	4.28	0.50868	.	0.494763	0.21735	N	0.069913	T	0.18923	0.0454	N	0.19112	0.55	0.28321	N	0.922219	B	0.09022	0.002	B	0.06405	0.002	T	0.12218	-1.0556	10	0.59425	D	0.04	.	7.2864	0.26342	0.8273:0.0:0.1727:0.0	.	314	Q9P2X3	IMPCT_HUMAN	G	314	ENSP00000284202:D314G	ENSP00000284202:D314G	D	+	2	0	IMPACT	20284787	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	5.345000	0.65987	0.996000	0.38943	0.528000	0.53228	GAC		0.328	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	
CHST9	83539	broad.mit.edu	37	18	24496653	24496653	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:24496653T>C	ENST00000284224.8	-	6	1179	c.902A>G	c.(901-903)tAc>tGc	p.Y301C	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.Y301C|AQP4-AS1_ENST00000568797.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	301					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.Y301C(1)|p.Y216C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TACTGGATGGTAATAACTATT	0.378																																					p.Y301C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A902G	18						.						141.0	133.0	136.0					18																	24496653		1859	4087	5946	22750651	SO:0001583	missense	83539	exon6			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.902A>G	18.37:g.24496653T>C	ENSP00000284224:p.Tyr301Cys		22750651	NM_031422	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973697	0.53720	.	.	ENSG00000154080	ENST00000284224	T	0.74315	-0.83	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	D	0.88317	0.6404	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89999	0.4113	10	0.87932	D	0	-16.9101	16.8222	0.85835	0.0:0.0:0.0:1.0	.	301	Q7L1S5	CHST9_HUMAN	C	301	ENSP00000284224:Y301C	ENSP00000284224:Y301C	Y	-	2	0	CHST9	22750651	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.940000	0.70187	2.371000	0.80710	0.533000	0.62120	TAC		0.378	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422	
CHST9	83539	broad.mit.edu	37	18	24496890	24496890	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:24496890G>A	ENST00000284224.8	-	6	942	c.665C>T	c.(664-666)gCt>gTt	p.A222V	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.A222V|AQP4-AS1_ENST00000568797.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	222					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.A222V(1)|p.A137V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GGAACAGCCAGCCTTAGGTAC	0.408																																					p.A222V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C665T	18						.						134.0	121.0	125.0					18																	24496890		1885	4115	6000	22750888	SO:0001583	missense	83539	exon6			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.665C>T	18.37:g.24496890G>A	ENSP00000284224:p.Ala222Val		22750888	NM_031422	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	G	5.294	0.239722	0.10023	.	.	ENSG00000154080	ENST00000284224	T	0.71461	-0.57	6.16	6.16	0.99307	.	0.078082	0.56097	D	0.000037	T	0.50274	0.1606	N	0.02665	-0.54	0.80722	D	1	P	0.37083	0.581	P	0.44359	0.447	T	0.55451	-0.8139	10	0.05525	T	0.97	-16.164	15.9288	0.79644	0.0658:0.0:0.9342:0.0	.	222	Q7L1S5	CHST9_HUMAN	V	222	ENSP00000284224:A222V	ENSP00000284224:A222V	A	-	2	0	CHST9	22750888	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.710000	0.74670	2.937000	0.99478	0.650000	0.86243	GCT		0.408	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422	
SMCHD1	23347	broad.mit.edu	37	18	2688662	2688662	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:2688662G>A	ENST00000320876.6	+	7	1128	c.790G>A	c.(790-792)Gag>Aag	p.E264K	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.E264K	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	264					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.E264K(3)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGATGTTCACGAGCTTGTGCT	0.299																																					p.E264K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G790A	18						.						24.0	22.0	23.0					18																	2688662		1788	4052	5840	2678662	SO:0001583	missense	23347	exon7			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.790G>A	18.37:g.2688662G>A	ENSP00000326603:p.Glu264Lys		2678662	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	33	5.214086	0.95104	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.94687	-3.49;-3.49	5.08	5.08	0.68730	ATPase-like, ATP-binding domain (2);	0.065221	0.64402	D	0.000009	D	0.95950	0.8681	L	0.41710	1.295	0.45108	D	0.998128	D	0.89917	1.0	D	0.83275	0.996	D	0.96647	0.9478	10	0.87932	D	0	.	18.8289	0.92130	0.0:0.0:1.0:0.0	.	264	A6NHR9	SMHD1_HUMAN	K	264	ENSP00000326603:E264K;ENSP00000261598:E264K	ENSP00000261598:E264K	E	+	1	0	SMCHD1	2678662	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	8.988000	0.93501	2.502000	0.84385	0.655000	0.94253	GAG		0.299	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
CDH2	1000	broad.mit.edu	37	18	25582963	25582963	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:25582963C>T	ENST00000269141.3	-	7	1441	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	CDH2_ENST00000399380.3_Missense_Mutation_p.E309K	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	340	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.E340K(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCTTACTTCTCGATCAAGT	0.398																																					p.E340K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1018A	18						.						189.0	169.0	176.0					18																	25582963		2203	4300	6503	23836961	SO:0001583	missense	1000	exon7			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1018G>A	18.37:g.25582963C>T	ENSP00000269141:p.Glu340Lys		23836961	NM_001792	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	36	5.686491	0.96784	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.72394	-0.65;-0.65	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.88983	0.6586	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77004	0.989;0.946	D	0.90929	0.4789	10	0.87932	D	0	.	20.1393	0.98055	0.0:1.0:0.0:0.0	.	309;340	A8MWK3;P19022	.;CADH2_HUMAN	K	340;309	ENSP00000269141:E340K;ENSP00000382312:E309K	ENSP00000269141:E340K	E	-	1	0	CDH2	23836961	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.759000	0.94783	0.563000	0.77884	GAA		0.398	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792	
DSC2	1824	broad.mit.edu	37	18	28672066	28672066	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:28672066T>G	ENST00000280904.6	-	3	795	c.352A>C	c.(352-354)Aag>Cag	p.K118Q	DSC2_ENST00000251081.6_Missense_Mutation_p.K118Q	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	118					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K118Q(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTGTATACCTTTGTTTGATGC	0.323																																					p.K118Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A352C	18						.						82.0	81.0	81.0					18																	28672066		2201	4298	6499	26926064	SO:0001583	missense	1824	exon3			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.352A>C	18.37:g.28672066T>G	ENSP00000280904:p.Lys118Gln		26926064	NM_004949		Missense_Mutation	SNP	ENST00000280904.6	37	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307075	0.40795	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.59772	0.27;0.24	5.21	-0.596	0.11657	Cadherin-like (1);	0.509402	0.14732	N	0.301676	T	0.57651	0.2068	L	0.61218	1.895	0.20638	N	0.999875	P;B	0.35107	0.484;0.079	P;B	0.46452	0.517;0.168	T	0.53982	-0.8361	10	0.45353	T	0.12	.	5.3066	0.15807	0.0:0.1378:0.296:0.5662	.	118;118	Q02487;Q02487-2	DSC2_HUMAN;.	Q	118	ENSP00000251081:K118Q;ENSP00000280904:K118Q	ENSP00000251081:K118Q	K	-	1	0	DSC2	26926064	0.985000	0.35326	0.721000	0.30653	0.955000	0.61496	0.539000	0.23175	0.034000	0.15491	0.374000	0.22700	AAG		0.323	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	
DSC1	1823	broad.mit.edu	37	18	28720060	28720060	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:28720060C>A	ENST00000257198.5	-	10	1726	c.1465G>T	c.(1465-1467)Gaa>Taa	p.E489*	DSC1_ENST00000257197.3_Nonsense_Mutation_p.E489*|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	489	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E489*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428																																					p.E489X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1465T	18						.						83.0	86.0	85.0					18																	28720060		2203	4300	6503	26974058	SO:0001587	stop_gained	1823	exon10			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1465G>T	18.37:g.28720060C>A	ENSP00000257198:p.Glu489*		26974058	NM_004948	Q9HB01	Nonsense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	37	6.360661	0.97502	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	.	.	.	5.83	0.794	0.18638	.	0.571899	0.15546	N	0.256708	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	3.6439	0.08177	0.1258:0.4956:0.2434:0.1352	.	.	.	.	X	489	.	ENSP00000257197:E489X	E	-	1	0	DSC1	26974058	0.000000	0.05858	0.000000	0.03702	0.602000	0.36980	0.051000	0.14141	-0.139000	0.11414	-0.172000	0.13284	GAA		0.428	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
DSC1	1823	broad.mit.edu	37	18	28722128	28722128	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:28722128T>G	ENST00000257198.5	-	9	1355	c.1094A>C	c.(1093-1095)gAa>gCa	p.E365A	DSC1_ENST00000257197.3_Missense_Mutation_p.E365A|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	365	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E365A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AATTCTGTTTTCTTCTACTTC	0.328																																					p.E365A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1094C	18						.						135.0	124.0	128.0					18																	28722128		2203	4300	6503	26976126	SO:0001583	missense	1823	exon9			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1094A>C	18.37:g.28722128T>G	ENSP00000257198:p.Glu365Ala		26976126	NM_004948	Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.517129	0.85495	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.76316	-1.01;-1.01	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.000000	0.53938	D	0.000060	D	0.91882	0.7430	H	0.96430	3.82	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.94288	0.7526	10	0.87932	D	0	.	15.8447	0.78879	0.0:0.0:0.0:1.0	.	365;365	Q08554;Q9HB00	DSC1_HUMAN;.	A	365	ENSP00000257197:E365A;ENSP00000257198:E365A	ENSP00000257197:E365A	E	-	2	0	DSC1	26976126	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.209000	0.65208	2.271000	0.75665	0.528000	0.53228	GAA		0.328	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421	
DSG1	1828	broad.mit.edu	37	18	28926100	28926100	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:28926100C>A	ENST00000257192.4	+	14	2251	c.2039C>A	c.(2038-2040)tCt>tAt	p.S680Y	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.S39Y|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	680					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.S680Y(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGAAGAAATTCTATGAGGGAA	0.418																																					p.S680Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2039A	18						.						101.0	103.0	103.0					18																	28926100		2203	4300	6503	27180098	SO:0001583	missense	1828	exon14			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2039C>A	18.37:g.28926100C>A	ENSP00000257192:p.Ser680Tyr		27180098	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405543	0.42715	.	.	ENSG00000134760	ENST00000257192	T	0.60040	0.22	6.06	6.06	0.98353	Cadherin, cytoplasmic domain (1);	0.181349	0.40064	N	0.001183	T	0.52613	0.1745	L	0.40543	1.245	0.40353	D	0.979156	P	0.39326	0.668	B	0.37346	0.247	T	0.58025	-0.7709	10	0.72032	D	0.01	.	17.7842	0.88532	0.0:1.0:0.0:0.0	.	680	Q02413	DSG1_HUMAN	Y	680	ENSP00000257192:S680Y	ENSP00000257192:S680Y	S	+	2	0	DSG1	27180098	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.544000	0.60691	2.871000	0.98454	0.655000	0.94253	TCT		0.418	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
DSG3	1830	broad.mit.edu	37	18	29044159	29044159	+	Missense_Mutation	SNP	G	G	A	rs73414212		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:29044159G>A	ENST00000257189.4	+	9	1168	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	362	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R362Q(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTATCTCTCGATACCGAGTT	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19057	0.0		0.0	False		,,,				2504	0.0				p.R362Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1085A	18						.						90.0	86.0	87.0					18																	29044159		2203	4300	6503	27298157	SO:0001583	missense	1830	exon9			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1085G>A	18.37:g.29044159G>A	ENSP00000257189:p.Arg362Gln		27298157	NM_001944	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.107	-1.144426	0.01728	.	.	ENSG00000134757	ENST00000257189	T	0.50548	0.74	6.07	3.74	0.42951	Cadherin (4);Cadherin-like (1);	0.274250	0.25692	N	0.028940	T	0.13329	0.0323	N	0.00507	-1.42	0.24531	N	0.994118	B	0.14012	0.009	B	0.08055	0.003	T	0.33343	-0.9872	10	0.02654	T	1	.	9.6804	0.40067	0.8586:0.0:0.1414:0.0	.	362	P32926	DSG3_HUMAN	Q	362	ENSP00000257189:R362Q	ENSP00000257189:R362Q	R	+	2	0	DSG3	27298157	0.000000	0.05858	0.691000	0.30163	0.035000	0.12851	0.165000	0.16564	0.554000	0.29061	-0.302000	0.09304	CGA		0.383	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
SMCHD1	23347	broad.mit.edu	37	18	2747526	2747526	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:2747526C>T	ENST00000320876.6	+	30	4146	c.3808C>T	c.(3808-3810)Cca>Tca	p.P1270S	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.P1270S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1270					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.P1270S(2)|p.P718S(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCAGTCCATTCCAGTGATTAA	0.313																																					p.P1270S												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3808T	18						.						57.0	53.0	55.0					18																	2747526		1804	4066	5870	2737526	SO:0001583	missense	23347	exon30			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3808C>T	18.37:g.2747526C>T	ENSP00000326603:p.Pro1270Ser		2737526	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468057	0.26335	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.21932	1.98;1.99	5.51	5.51	0.81932	.	0.238507	0.43579	D	0.000550	T	0.18676	0.0448	L	0.47716	1.5	0.32506	N	0.538172	B	0.34103	0.437	B	0.30401	0.115	T	0.20974	-1.0259	10	0.49607	T	0.09	-11.2546	10.8204	0.46601	0.1446:0.7155:0.1399:0.0	.	1270	A6NHR9	SMHD1_HUMAN	S	1270	ENSP00000326603:P1270S;ENSP00000261598:P1270S	ENSP00000261598:P1270S	P	+	1	0	SMCHD1	2737526	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	1.163000	0.31798	2.577000	0.86979	0.585000	0.79938	CCA		0.313	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSG3	1830	broad.mit.edu	37	18	29055907	29055907	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:29055907T>G	ENST00000257189.4	+	16	2767	c.2684T>G	c.(2683-2685)tTt>tGt	p.F895C		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	895					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F895C(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGACAGGATTTGTTAAGTGC	0.512																																					p.F895C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2684G	18						.						125.0	123.0	124.0					18																	29055907		2203	4300	6503	27309905	SO:0001583	missense	1830	exon16			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2684T>G	18.37:g.29055907T>G	ENSP00000257189:p.Phe895Cys		27309905	NM_001944	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	T	9.362	1.068218	0.20067	.	.	ENSG00000134757	ENST00000257189	T	0.59083	0.29	5.54	0.558	0.17266	.	1.119980	0.06768	N	0.782966	T	0.29588	0.0738	N	0.02539	-0.55	0.09310	N	1	P	0.46578	0.88	B	0.40534	0.332	T	0.13019	-1.0525	10	0.37606	T	0.19	.	5.6865	0.17805	0.1296:0.5571:0.0:0.3133	.	895	P32926	DSG3_HUMAN	C	895	ENSP00000257189:F895C	ENSP00000257189:F895C	F	+	2	0	DSG3	27309905	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.368000	0.07543	0.098000	0.17522	-1.252000	0.01501	TTT		0.512	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
SMCHD1	23347	broad.mit.edu	37	18	2750424	2750424	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:2750424C>A	ENST00000320876.6	+	32	4422	c.4084C>A	c.(4084-4086)Ctt>Att	p.L1362I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.L1362I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1362					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.L1362F(2)|p.L1362I(2)|p.L810I(1)|p.L810F(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTAATGATTCTTCCAGACCC	0.383																																					p.L1362I												.	.	6	Substitution - Missense(6)	large_intestine(3)|lung(3)	c.C4084A	18						.						50.0	47.0	48.0					18																	2750424		1820	4083	5903	2740424	SO:0001583	missense	23347	exon32			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4084C>A	18.37:g.2750424C>A	ENSP00000326603:p.Leu1362Ile		2740424	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403691	0.62288	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24723	1.84;1.84	5.76	5.76	0.90799	.	0.062841	0.64402	D	0.000008	T	0.44498	0.1296	L	0.46741	1.465	0.37771	D	0.926681	D	0.63880	0.993	D	0.70016	0.967	T	0.14924	-1.0455	10	0.24483	T	0.36	-19.6281	18.7372	0.91759	0.0:1.0:0.0:0.0	.	1362	A6NHR9	SMHD1_HUMAN	I	1362	ENSP00000326603:L1362I;ENSP00000261598:L1362I	ENSP00000261598:L1362I	L	+	1	0	SMCHD1	2740424	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.395000	0.66291	2.721000	0.93114	0.591000	0.81541	CTT		0.383	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
DSG2	1829	broad.mit.edu	37	18	29126062	29126062	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:29126062G>A	ENST00000261590.8	+	15	2922	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	905					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E905K(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGTAACTCAGGAAATAGTCAC	0.433																																					p.E905K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2713A	18						.						75.0	71.0	72.0					18																	29126062		1887	4119	6006	27380060	SO:0001583	missense	1829	exon15			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2713G>A	18.37:g.29126062G>A	ENSP00000261590:p.Glu905Lys		27380060	NM_001943	Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516903	0.85495	.	.	ENSG00000046604	ENST00000261590	T	0.76186	-1.0	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000017	T	0.81143	0.4761	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79364	-0.1834	10	0.37606	T	0.19	.	18.5243	0.90965	0.0:0.0:1.0:0.0	.	905	Q14126	DSG2_HUMAN	K	905	ENSP00000261590:E905K	ENSP00000261590:E905K	E	+	1	0	DSG2	27380060	1.000000	0.71417	0.996000	0.52242	0.920000	0.55202	2.239000	0.43079	2.691000	0.91804	0.655000	0.94253	GAA		0.433	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943	
MYOM1	8736	broad.mit.edu	37	18	3086121	3086121	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:3086121A>C	ENST00000356443.4	-	30	4499	c.4166T>G	c.(4165-4167)aTt>aGt	p.I1389S	MYOM1_ENST00000261606.7_Missense_Mutation_p.I1293S|MYOM1_ENST00000400569.3_Missense_Mutation_p.I1389S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1389	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.I1389S(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTACCACACAATATGAGTCTC	0.338																																					p.I1293S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3878G	18						.						148.0	130.0	136.0					18																	3086121		1850	4096	5946	3076121	SO:0001583	missense	8736	exon29			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4166T>G	18.37:g.3086121A>C	ENSP00000348821:p.Ile1389Ser		3076121	NM_019856	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134736	0.56828	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.72394	-0.65;-0.65;-0.65	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.160430	0.56097	D	0.000032	T	0.80829	0.4698	L	0.54323	1.7	0.51482	D	0.999926	D;D	0.65815	0.986;0.995	P;D	0.66979	0.85;0.948	T	0.82637	-0.0359	10	0.87932	D	0	.	16.0953	0.81117	1.0:0.0:0.0:0.0	.	1293;1389	P52179-2;P52179	.;MYOM1_HUMAN	S	1389;1389;1293	ENSP00000348821:I1389S;ENSP00000383413:I1389S;ENSP00000261606:I1293S	ENSP00000261606:I1293S	I	-	2	0	MYOM1	3076121	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	7.305000	0.78891	2.204000	0.70986	0.383000	0.25322	ATT		0.338	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
CCDC178	374864	broad.mit.edu	37	18	30672796	30672796	+	Nonsense_Mutation	SNP	C	C	A	rs150180566		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:30672796C>A	ENST00000383096.3	-	21	2499	c.2317G>T	c.(2317-2319)Gaa>Taa	p.E773*	CCDC178_ENST00000583930.1_Nonsense_Mutation_p.E773*|CCDC178_ENST00000300227.8_Nonsense_Mutation_p.E735*|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000581852.1_Intron|CCDC178_ENST00000403303.1_Nonsense_Mutation_p.E773*|CCDC178_ENST00000402325.1_Intron|CCDC178_ENST00000579947.1_Nonsense_Mutation_p.E773*|CCDC178_ENST00000406524.2_Nonsense_Mutation_p.E773*			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	773								p.E735*(1)|p.E773*(1)									TTGTCCTTTTCTTTTAAGAAT	0.274																																					p.E735X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2203T	18						.	C	stop/GLU,stop/GLU	1,4397	2.1+/-5.4	0,1,2198	46.0	50.0	49.0		2317,2203	5.0	0.5	18	dbSNP_134	49	0,8566		0,0,4283	no	stop-gained,stop-gained	C18orf34	NM_001105528.1,NM_198995.2	,	0,1,6481	AA,AC,CC		0.0,0.0227,0.0077	,	773/868,735/830	30672796	1,12963	2199	4283	6482	28926794	SO:0001587	stop_gained	374864	exon20			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2317G>T	18.37:g.30672796C>A	ENSP00000372576:p.Glu773*		28926794	NM_198995	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Nonsense_Mutation	SNP	ENST00000383096.3	37	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	38	6.846337	0.97881	2.27E-4	0.0	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524	.	.	.	5.84	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.38618	D	0.95107	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-7.2212	10.7719	0.46327	0.0:0.8473:0.0:0.1527	.	.	.	.	X	773;773;735;773	.	ENSP00000300227:E735X	E	-	1	0	C18orf34	28926794	0.070000	0.21116	0.545000	0.28153	0.298000	0.27526	0.715000	0.25822	1.485000	0.48380	0.650000	0.86243	GAA		0.274	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995	
MAPRE2	10982	broad.mit.edu	37	18	32682069	32682069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:32682069G>T	ENST00000300249.5	+	4	736	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	MAPRE2_ENST00000588910.1_Nonsense_Mutation_p.E186*|MAPRE2_ENST00000538170.2_Nonsense_Mutation_p.E133*|MAPRE2_ENST00000436190.2_Nonsense_Mutation_p.E174*|MAPRE2_ENST00000589699.1_Nonsense_Mutation_p.E143*|MAPRE2_ENST00000413393.1_Nonsense_Mutation_p.E143*	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	186					cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)		p.E186*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TGACCCTGGTGAACAGATCTT	0.448																																					p.E174X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G520T	18						.						120.0	103.0	109.0					18																	32682069		2203	4300	6503	30936067	SO:0001587	stop_gained	10982	exon5			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.556G>T	18.37:g.32682069G>T	ENSP00000300249:p.Glu186*		30936067	NM_001143827	B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Nonsense_Mutation	SNP	ENST00000300249.5	37	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	G	39	7.447637	0.98289	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-19.988	19.0877	0.93212	0.0:0.0:1.0:0.0	.	.	.	.	X	143;174;186;133	.	ENSP00000300249:E186X	E	+	1	0	MAPRE2	30936067	1.000000	0.71417	0.995000	0.50966	0.953000	0.61014	9.677000	0.98645	2.514000	0.84764	0.555000	0.69702	GAA		0.448	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268	
MYOM1	8736	broad.mit.edu	37	18	3164279	3164279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:3164279G>A	ENST00000356443.4	-	10	1831	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R500*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.R500*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	500					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R500*(3)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACTTACCTCGAACAAAGACA	0.353																																					p.R500X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C1498T	18						.						65.0	60.0	62.0					18																	3164279		1930	4157	6087	3154279	SO:0001587	stop_gained	8736	exon10			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1498C>T	18.37:g.3164279G>A	ENSP00000348821:p.Arg500*		3154279	NM_019856	Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	42	9.202934	0.99099	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	4.94	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	12.2713	0.54708	0.0:0.0:0.6913:0.3087	.	.	.	.	X	500	.	ENSP00000261606:R500X	R	-	1	2	MYOM1	3154279	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.492000	0.53259	1.234000	0.43709	0.563000	0.77884	CGA		0.353	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
MYOM1	8736	broad.mit.edu	37	18	3168875	3168875	+	Missense_Mutation	SNP	G	G	A	rs376648139		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:3168875G>A	ENST00000356443.4	-	9	1612	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	MYOM1_ENST00000261606.7_Missense_Mutation_p.R427C|MYOM1_ENST00000400569.3_Missense_Mutation_p.R427C	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	427	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R427C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATGACAACACGACAGCCTAGA	0.433																																					p.R427C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1279T	18						.	G	CYS/ARG,CYS/ARG	0,3806		0,0,1903	133.0	122.0	125.0		1279,1279	3.8	1.0	18		125	1,8243		0,1,4121	no	missense,missense	MYOM1	NM_003803.3,NM_019856.1	180,180	0,1,6024	AA,AG,GG		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging	427/1686,427/1590	3168875	1,12049	1903	4122	6025	3158875	SO:0001583	missense	8736	exon9			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1279C>T	18.37:g.3168875G>A	ENSP00000348821:p.Arg427Cys		3158875	NM_019856	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966206	0.74131	0.0	1.21E-4	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.68479	-0.33;-0.33;-0.33	5.55	3.76	0.43208	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.118708	0.56097	D	0.000032	T	0.59335	0.2186	N	0.19112	0.55	0.44492	D	0.997431	D;D	0.61697	0.978;0.99	P;P	0.53954	0.62;0.738	T	0.60255	-0.7299	10	0.56958	D	0.05	.	7.807	0.29209	0.0763:0.0:0.4946:0.429	.	427;427	P52179-2;P52179	.;MYOM1_HUMAN	C	427	ENSP00000348821:R427C;ENSP00000383413:R427C;ENSP00000261606:R427C	ENSP00000261606:R427C	R	-	1	0	MYOM1	3158875	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.429000	0.52800	0.889000	0.36185	0.655000	0.94253	CGT		0.433	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
ZNF24	7572	broad.mit.edu	37	18	32917462	32917462	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:32917462A>G	ENST00000261332.6	-	4	1020	c.841T>C	c.(841-843)Tgt>Cgt	p.C281R	ZNF24_ENST00000399061.3_Missense_Mutation_p.C281R|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	281	Necessary and sufficient for nuclear localization.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.C281R(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CACTCAACACATCCATAAGGT	0.418																																					p.C281R	Colon(42;769 913 8916 19469 46270)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T841C	18						.						108.0	112.0	111.0					18																	32917462		2203	4300	6503	31171460	SO:0001583	missense	7572	exon4			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.841T>C	18.37:g.32917462A>G	ENSP00000261332:p.Cys281Arg		31171460	NM_006965	O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	ENST00000261332.6	37	CCDS11912.1	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629851	0.67015	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	D;D	0.85258	-1.96;-1.96	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.097464	0.46758	D	0.000277	D	0.95319	0.8481	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96723	0.9534	10	0.87932	D	0	.	13.3339	0.60505	1.0:0.0:0.0:0.0	.	281	P17028	ZNF24_HUMAN	R	281	ENSP00000261332:C281R;ENSP00000382015:C281R	ENSP00000261332:C281R	C	-	1	0	ZNF24	31171460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.087000	0.94110	2.250000	0.74265	0.533000	0.62120	TGT		0.418	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965	
RPRD1A	55197	broad.mit.edu	37	18	33573227	33573227	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:33573227G>A	ENST00000399022.4	-	7	997	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	RPRD1A_ENST00000357384.4_Missense_Mutation_p.R276C|RPRD1A_ENST00000588737.1_Missense_Mutation_p.R240C|RPRD1A_ENST00000590898.1_Missense_Mutation_p.R240C|RPRD1A_ENST00000337059.5_Missense_Mutation_p.R240C	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	276					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.R276C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						AGTTCTTTGCGCACCAGGGAA	0.493																																					p.R276C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826T	18						.						93.0	85.0	87.0					18																	33573227		2203	4300	6503	31827225	SO:0001583	missense	55197	exon7			AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"""cyclin-dependent kinase 2B-inhibitor-related protein"", ""Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"""	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.826C>T	18.37:g.33573227G>A	ENSP00000381984:p.Arg276Cys		31827225	NM_018170	A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	ENST00000399022.4	37	CCDS11917.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728622	0.48833	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059	.	.	.	5.79	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	T	0.74856	-0.3522	9	0.39692	T	0.17	-8.2047	11.5171	0.50529	0.0:0.0:0.5547:0.4452	.	276;240	Q96P16;Q96P16-3	RPR1A_HUMAN;.	C	276;276;240	.	ENSP00000337476:R240C	R	-	1	0	RPRD1A	31827225	1.000000	0.71417	0.989000	0.46669	1.000000	0.99986	3.468000	0.53086	1.443000	0.47586	0.655000	0.94253	CGC		0.493	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255802.1	NM_018170	
SLC39A6	25800	broad.mit.edu	37	18	33706247	33706247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:33706247C>A	ENST00000590986.1	-	2	1013	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	SLC39A6_ENST00000269187.5_Nonsense_Mutation_p.E242*|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	242					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.E242*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CTCACAGATTCATTTGTTTTC	0.448																																					p.E242X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G724T	18						.						137.0	133.0	134.0					18																	33706247		1867	4086	5953	31960245	SO:0001587	stop_gained	25800	exon2			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.724G>T	18.37:g.33706247C>A	ENSP00000465915:p.Glu242*		31960245	NM_012319	B4DR49|B4E224|Q8IXR3|Q96HP5	Nonsense_Mutation	SNP	ENST00000590986.1	37	CCDS42428.1	.	.	.	.	.	.	.	.	.	.	C	39	7.707624	0.98444	.	.	ENSG00000141424	ENST00000269187	.	.	.	5.92	5.05	0.67936	.	1.971590	0.02199	N	0.062086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-4.704	10.8478	0.46753	0.0:0.9141:0.0:0.0859	.	.	.	.	X	242	.	ENSP00000269187:E242X	E	-	1	0	SLC39A6	31960245	1.000000	0.71417	0.996000	0.52242	0.927000	0.56198	2.362000	0.44169	1.521000	0.48983	0.561000	0.74099	GAA		0.448	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000444136.1		
FHOD3	80206	broad.mit.edu	37	18	34289258	34289258	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:34289258G>A	ENST00000359247.4	+	14	1861	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	FHOD3_ENST00000590592.1_Missense_Mutation_p.E813K|FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Missense_Mutation_p.E638K|FHOD3_ENST00000445677.1_Missense_Mutation_p.E600K	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	621					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.E638K(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGGGGTGAACGAGAGGGACAA	0.582																																					p.E638K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1912A	18						.						64.0	57.0	59.0					18																	34289258		2203	4300	6503	32543256	SO:0001583	missense	80206	exon15			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1861G>A	18.37:g.34289258G>A	ENSP00000352186:p.Glu621Lys		32543256	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	35	5.556598	0.96514	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.38077	1.19;1.16;2.05	5.36	5.36	0.76844	.	0.049070	0.85682	D	0.000000	T	0.58337	0.2115	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.80764	0.994;0.635;0.994;0.986	T	0.54728	-0.8250	10	0.45353	T	0.12	.	17.8323	0.88686	0.0:0.0:1.0:0.0	.	600;621;638;813	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	K	638;621;600	ENSP00000257209:E638K;ENSP00000352186:E621K;ENSP00000411430:E600K	ENSP00000257209:E638K	E	+	1	0	FHOD3	32543256	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.591000	0.98241	2.782000	0.95742	0.655000	0.94253	GAG		0.582	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
FHOD3	80206	broad.mit.edu	37	18	34320755	34320755	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:34320755G>A	ENST00000359247.4	+	17	3137	c.3137G>A	c.(3136-3138)cGa>cAa	p.R1046Q	FHOD3_ENST00000590592.1_Missense_Mutation_p.R1238Q|FHOD3_ENST00000592128.1_Missense_Mutation_p.R42Q|FHOD3_ENST00000591635.1_Missense_Mutation_p.R259Q|FHOD3_ENST00000257209.4_Missense_Mutation_p.R1063Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R1025Q	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1046	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.R1063Q(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTCTCTGCACGACTTCACCTC	0.522																																					p.R1063Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G3188A	18						.						85.0	77.0	80.0					18																	34320755		2203	4300	6503	32574753	SO:0001583	missense	80206	exon18			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3137G>A	18.37:g.34320755G>A	ENSP00000352186:p.Arg1046Gln		32574753	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	G	35	5.431684	0.96150	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.39787	1.06;1.06;1.06	5.98	5.98	0.97165	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.998;0.999	T	0.78625	-0.2131	10	0.87932	D	0	.	19.0277	0.92939	0.0:0.0:1.0:0.0	.	267;1025;1046;1063	E7ETX5;Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;.;FHOD3_HUMAN;.	Q	1063;1046;1025	ENSP00000257209:R1063Q;ENSP00000352186:R1046Q;ENSP00000411430:R1025Q	ENSP00000257209:R1063Q	R	+	2	0	FHOD3	32574753	1.000000	0.71417	0.995000	0.50966	0.823000	0.46562	9.869000	0.99810	2.838000	0.97847	0.563000	0.77884	CGA		0.522	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
SETBP1	26040	broad.mit.edu	37	18	42281665	42281665	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:42281665G>T	ENST00000282030.5	+	2	650	c.354G>T	c.(352-354)aaG>aaT	p.K118N	SETBP1_ENST00000426838.4_Missense_Mutation_p.K118N	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	118						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K64N(1)|p.K118N(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AACCCCCAAAGAATTTGGAGA	0.458									Schinzel-Giedion syndrome																												p.K118N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G354T	18						.						73.0	79.0	77.0					18																	42281665		2203	4300	6503	40535663	SO:0001583	missense	26040	exon2	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.354G>T	18.37:g.42281665G>T	ENSP00000282030:p.Lys118Asn		40535663	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995943	0.74703	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	D	0.84370	-1.84	5.67	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.89808	0.6822	L	0.59436	1.845	0.41399	D	0.987666	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89670	0.3883	10	0.87932	D	0	.	11.5444	0.50685	0.1459:0.0:0.8541:0.0	.	118;118	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	N	118	ENSP00000282030:K118N	ENSP00000282030:K118N	K	+	3	2	SETBP1	40535663	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.025000	0.57225	0.729000	0.32403	0.591000	0.81541	AAG		0.458	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SETBP1	26040	broad.mit.edu	37	18	42532121	42532121	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:42532121A>T	ENST00000282030.5	+	4	3112	c.2816A>T	c.(2815-2817)aAg>aTg	p.K939M		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	939						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K885M(1)|p.K939M(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAAAGCACAAGAGGAAACGG	0.537									Schinzel-Giedion syndrome																												p.K939M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2816T	18						.						50.0	50.0	50.0					18																	42532121		2203	4300	6503	40786119	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2816A>T	18.37:g.42532121A>T	ENSP00000282030:p.Lys939Met		40786119	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811784	0.50527	.	.	ENSG00000152217	ENST00000282030	D	0.93247	-3.19	6.17	6.17	0.99709	.	0.110158	0.64402	D	0.000009	D	0.94463	0.8218	L	0.29908	0.895	0.38200	D	0.940151	D	0.89917	1.0	D	0.73380	0.98	D	0.96044	0.9026	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	939	Q9Y6X0	SETBP_HUMAN	M	939	ENSP00000282030:K939M	ENSP00000282030:K939M	K	+	2	0	SETBP1	40786119	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.049000	0.76613	2.371000	0.80710	0.533000	0.62120	AAG		0.537	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SETBP1	26040	broad.mit.edu	37	18	42532744	42532744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:42532744C>T	ENST00000282030.5	+	4	3735	c.3439C>T	c.(3439-3441)Ctc>Ttc	p.L1147F		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1147						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L1093F(1)|p.L1147F(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGTGGTCGGCTCCATAAGAG	0.542									Schinzel-Giedion syndrome																												p.L1147F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3439T	18						.						81.0	69.0	73.0					18																	42532744		2203	4300	6503	40786742	SO:0001583	missense	26040	exon4	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3439C>T	18.37:g.42532744C>T	ENSP00000282030:p.Leu1147Phe		40786742	NM_015559	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556996	0.65425	.	.	ENSG00000152217	ENST00000282030	T	0.71934	-0.61	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	L	0.34521	1.04	0.51482	D	0.999922	D	0.89917	1.0	D	0.91635	0.999	T	0.79811	-0.1646	10	0.66056	D	0.02	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	1147	Q9Y6X0	SETBP_HUMAN	F	1147	ENSP00000282030:L1147F	ENSP00000282030:L1147F	L	+	1	0	SETBP1	40786742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.572000	0.82409	2.873000	0.98535	0.561000	0.74099	CTC		0.542	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
SLC14A2	8170	broad.mit.edu	37	18	43212387	43212387	+	Silent	SNP	G	G	A	rs143328575		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:43212387G>A	ENST00000255226.6	+	5	1410	c.594G>A	c.(592-594)gaG>gaA	p.E198E	SLC14A2_ENST00000586448.1_Silent_p.E198E	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	198					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.E198E(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTTCTCGGAGAAGTTAGACT	0.547																																					p.E198E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G594A	18						.	G	,	0,4406		0,0,2203	286.0	237.0	254.0		594,594	0.5	0.1	18	dbSNP_134	254	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC14A2	NM_001242692.1,NM_007163.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	198/921,198/921	43212387	1,13005	2203	4300	6503	41466385	SO:0001819	synonymous_variant	8170	exon5			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.594G>A	18.37:g.43212387G>A			41466385	NM_007163	A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	CCDS11924.1																																																																																				0.547	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
SLC14A2	8170	broad.mit.edu	37	18	43219768	43219768	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:43219768A>G	ENST00000255226.6	+	7	1717	c.901A>G	c.(901-903)Aca>Gca	p.T301A	SLC14A2_ENST00000586448.1_Missense_Mutation_p.T301A	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	301					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.T301A(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAATCCCTGGACAGGCGGCGT	0.547																																					p.T301A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A901G	18						.						166.0	140.0	149.0					18																	43219768		2203	4300	6503	41473766	SO:0001583	missense	8170	exon7			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.901A>G	18.37:g.43219768A>G	ENSP00000255226:p.Thr301Ala		41473766	NM_007163	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.275745	0.40294	.	.	ENSG00000132874	ENST00000255226	T	0.45276	0.9	5.24	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.81112	2.525	0.80722	D	1	P	0.41978	0.767	B	0.38683	0.279	T	0.50320	-0.8842	10	0.52906	T	0.07	-11.4404	11.2415	0.48972	0.9285:0.0:0.0715:0.0	.	301	Q15849	UT2_HUMAN	A	301	ENSP00000255226:T301A	ENSP00000255226:T301A	T	+	1	0	SLC14A2	41473766	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	5.741000	0.68638	1.124000	0.41980	-0.250000	0.11733	ACA		0.547	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
EPG5	57724	broad.mit.edu	37	18	43438734	43438734	+	Missense_Mutation	SNP	C	C	A	rs542786306		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:43438734C>A	ENST00000282041.5	-	41	7057	c.7023G>T	c.(7021-7023)caG>caT	p.Q2341H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2341					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.Q2341H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATCCTGAATTCTGATTGAGAG	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20562	0.0		0.0	False		,,,				2504	0.0				p.Q2341H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7023T	18						.						54.0	51.0	52.0					18																	43438734		1856	4109	5965	41692732	SO:0001583	missense	57724	exon41			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7023G>T	18.37:g.43438734C>A	ENSP00000282041:p.Gln2341His		41692732	NM_020964	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682618	0.29872	.	.	ENSG00000152223	ENST00000282041;ENST00000540322;ENST00000308403	T	0.10573	2.86	5.92	-2.62	0.06152	.	.	.	.	.	T	0.08626	0.0214	L	0.43152	1.355	0.22081	N	0.999372	B	0.24920	0.114	B	0.21917	0.037	T	0.34502	-0.9826	9	0.49607	T	0.09	-9.0147	6.6056	0.22724	0.212:0.4535:0.0:0.3344	.	2341	Q9HCE0	EPG5_HUMAN	H	2341;269;1216	ENSP00000282041:Q2341H	ENSP00000282041:Q2341H	Q	-	3	2	EPG5	41692732	0.940000	0.31905	0.113000	0.21522	0.745000	0.42441	0.071000	0.14594	-0.302000	0.08869	-0.367000	0.07326	CAG		0.448	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
EPG5	57724	broad.mit.edu	37	18	43532514	43532514	+	Silent	SNP	G	G	A	rs562098384		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:43532514G>A	ENST00000282041.5	-	3	1138	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	368					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.F368F(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATTTGGCATCGAATAGCTTCT	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		20041	0.0		0.0	False		,,,				2504	0.001				p.F368F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1104T	18						.						97.0	99.0	99.0					18																	43532514		1914	4125	6039	41786512	SO:0001819	synonymous_variant	57724	exon3			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1104C>T	18.37:g.43532514G>A			41786512	NM_020964	A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	CCDS11926.2																																																																																				0.438	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
ATP5A1	498	broad.mit.edu	37	18	43675041	43675041	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:43675041A>C	ENST00000398752.6	-	2	238	c.117T>G	c.(115-117)tcT>tcG	p.S39S	ATP5A1_ENST00000593152.2_5'UTR|ATP5A1_ENST00000590665.1_Silent_p.S39S|ATP5A1_ENST00000282050.2_Silent_p.S39S|ATP5A1_ENST00000591267.1_5'UTR	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	39					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)	p.S39S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GATGAGTGTTAGAGGCATGGA	0.358																																					p.S39S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T117G	18						.						91.0	91.0	91.0					18																	43675041		2203	4300	6503	41929039	SO:0001819	synonymous_variant	498	exon2			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.117T>G	18.37:g.43675041A>C			41929039	NM_004046	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Silent	SNP	ENST00000398752.6	37	CCDS11927.1																																																																																				0.358	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046	
SMAD2	4087	broad.mit.edu	37	18	45374924	45374924	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:45374924T>G	ENST00000402690.2	-	8	1313	c.919A>C	c.(919-921)Aat>Cat	p.N307H	SMAD2_ENST00000356825.4_Missense_Mutation_p.N277H|SMAD2_ENST00000591214.1_Missense_Mutation_p.N277H|SMAD2_ENST00000586040.1_Missense_Mutation_p.N277H|SMAD2_ENST00000262160.6_Missense_Mutation_p.N307H	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	307	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.N307H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTCTCTGAATTTGATGGGTCT	0.403																																					p.N277H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A829C	18						.						125.0	114.0	118.0					18																	45374924		2203	4300	6503	43628922	SO:0001583	missense	4087	exon7			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.919A>C	18.37:g.45374924T>G	ENSP00000384449:p.Asn307His		43628922	NM_001135937		Missense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667048	0.88251	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.97455	-4.39;-4.39;-4.39	5.81	5.81	0.92471	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.931;0.976	D	0.99007	1.0813	10	0.87932	D	0	.	16.1773	0.81862	0.0:0.0:0.0:1.0	.	277;277;307	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	H	307;277;307	ENSP00000262160:N307H;ENSP00000349282:N277H;ENSP00000384449:N307H	ENSP00000262160:N307H	N	-	1	0	SMAD2	43628922	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	8.040000	0.89188	2.217000	0.71921	0.482000	0.46254	AAT		0.403	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901	
SMAD2	4087	broad.mit.edu	37	18	45395775	45395775	+	Missense_Mutation	SNP	C	C	T	rs374809046		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:45395775C>T	ENST00000402690.2	-	4	753	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	SMAD2_ENST00000356825.4_Missense_Mutation_p.R90Q|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000591214.1_Missense_Mutation_p.R90Q|SMAD2_ENST00000586040.1_Missense_Mutation_p.R90Q|SMAD2_ENST00000262160.6_Missense_Mutation_p.R120Q	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	120	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.R120Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CAATCCTTTTCGATGGGATAC	0.403																																					p.R90Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G269A	18						.	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	79.0	72.0	75.0		359,269,359	5.2	0.9	18		75	1,8599		0,1,4299	no	missense,missense,missense	SMAD2	NM_001003652.2,NM_001135937.1,NM_005901.4	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	120/468,90/438,120/468	45395775	1,13005	2203	4300	6503	43649773	SO:0001583	missense	4087	exon3			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.359G>A	18.37:g.45395775C>T	ENSP00000384449:p.Arg120Gln		43649773	NM_001135937		Missense_Mutation	SNP	ENST00000402690.2	37	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640563	0.87859	0.0	1.16E-4	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	T;T;T	0.76839	-1.05;-1.05;-1.05	5.17	5.17	0.71159	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	T	0.76154	0.3948	M	0.67625	2.065	0.80722	D	1	P;P;P	0.41673	0.53;0.759;0.581	B;B;B	0.34931	0.087;0.127;0.192	T	0.81278	-0.1005	10	0.87932	D	0	.	19.0248	0.92929	0.0:1.0:0.0:0.0	.	90;90;120	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	Q	120;90;120	ENSP00000262160:R120Q;ENSP00000349282:R90Q;ENSP00000384449:R120Q	ENSP00000262160:R120Q	R	-	2	0	SMAD2	43649773	1.000000	0.71417	0.917000	0.36280	0.983000	0.72400	7.776000	0.85560	2.566000	0.86566	0.591000	0.81541	CGA		0.403	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901	
DYM	54808	broad.mit.edu	37	18	46645263	46645263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:46645263G>A	ENST00000269445.6	-	15	2054	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	RP11-15F12.3_ENST00000585251.1_RNA|DYM_ENST00000442713.2_Nonsense_Mutation_p.R343*	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	533					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)	p.R533*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AACATCATTCGAATCACTTCT	0.403																																					p.R533X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1597T	18						.						153.0	128.0	136.0					18																	46645263		2203	4300	6503	44899261	SO:0001587	stop_gained	54808	exon15			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1597C>T	18.37:g.46645263G>A	ENSP00000269445:p.Arg533*		44899261	NM_017653	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Nonsense_Mutation	SNP	ENST00000269445.6	37	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	G	44	10.896302	0.99485	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	.	.	.	5.83	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3061	15.0851	0.72145	0.0679:0.0:0.9321:0.0	.	.	.	.	X	343;533	.	ENSP00000269445:R533X	R	-	1	2	DYM	44899261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.920000	0.87521	1.483000	0.48342	0.650000	0.86243	CGA		0.403	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653	
CFAP53	220136	broad.mit.edu	37	18	47777955	47777955	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:47777955C>A	ENST00000398545.4	-	4	790	c.673G>T	c.(673-675)Gag>Tag	p.E225*		NM_145020.3	NP_659457.2												p.E225*(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCCATCAGCTCTTTCTGTCTC	0.557																																					p.E225X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G673T	18						.						149.0	150.0	150.0					18																	47777955		2056	4188	6244	46031953	SO:0001587	stop_gained	220136	exon4																														ENST00000398545.4:c.673G>T	18.37:g.47777955C>A	ENSP00000381553:p.Glu225*		46031953	NM_145020		Nonsense_Mutation	SNP	ENST00000398545.4	37	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947653	0.92593	.	.	ENSG00000172361	ENST00000398545	.	.	.	5.32	1.48	0.22813	.	0.564063	0.18973	N	0.126081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-4.9221	4.4286	0.11517	0.0:0.5197:0.1652:0.3151	.	.	.	.	X	225	.	ENSP00000381553:E225X	E	-	1	0	CCDC11	46031953	0.008000	0.16893	0.744000	0.31058	0.851000	0.48451	0.414000	0.21164	0.619000	0.30197	0.655000	0.94253	GAG		0.557	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3		
MBD1	4152	broad.mit.edu	37	18	47803498	47803498	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:47803498C>T	ENST00000591416.1	-	3	618	c.187G>A	c.(187-189)Gac>Aac	p.D63N	MBD1_ENST00000585595.1_Missense_Mutation_p.D63N|MBD1_ENST00000436910.1_Missense_Mutation_p.D63N|MBD1_ENST00000457839.2_Missense_Mutation_p.D63N|MBD1_ENST00000349085.2_Missense_Mutation_p.D63N|MBD1_ENST00000587605.1_Missense_Mutation_p.D63N|MBD1_ENST00000398493.1_Missense_Mutation_p.D63N|MBD1_ENST00000588937.1_Missense_Mutation_p.D63N|MBD1_ENST00000398495.2_Missense_Mutation_p.D63N|MBD1_ENST00000269471.5_Missense_Mutation_p.D63N|MBD1_ENST00000590208.1_Missense_Mutation_p.D63N|MBD1_ENST00000347968.3_Missense_Mutation_p.D63N|MBD1_ENST00000585672.1_Missense_Mutation_p.D63N|MBD1_ENST00000339998.6_Missense_Mutation_p.D63N|MBD1_ENST00000424334.2_Missense_Mutation_p.D89N|MBD1_ENST00000269468.5_Missense_Mutation_p.D63N|MBD1_ENST00000398488.1_Missense_Mutation_p.D63N|MBD1_ENST00000353909.3_Missense_Mutation_p.D63N|MBD1_ENST00000382948.5_Missense_Mutation_p.D63N|MBD1_ENST00000591535.1_Missense_Mutation_p.D63N			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	63	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.D63N(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGTTTGAAGTCGAAGAGGGTG	0.542																																					p.D63N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G187A	18						.						140.0	121.0	127.0					18																	47803498		2203	4300	6503	46057496	SO:0001583	missense	4152	exon3			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.187G>A	18.37:g.47803498C>T	ENSP00000467017:p.Asp63Asn		46057496	NM_015847	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298893	0.81025	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24	4.63	3.75	0.43078	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);	0.000000	0.64402	D	0.000010	D	0.97980	0.9335	M	0.79011	2.435	0.41668	D	0.989229	D;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;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.999;1.0;0.999;0.997;0.998;0.919;1.0;0.973;0.997	D	0.98380	1.0558	10	0.72032	D	0.01	-12.3433	11.094	0.48132	0.0:0.9062:0.0:0.0938	.	63;89;63;63;63;63;63;63;63;63;63	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.	N	63;63;63;63;63;63;63;89;63;63;63;63;63	ENSP00000372407:D63N;ENSP00000269469:D63N;ENSP00000342531:D63N;ENSP00000269468:D63N;ENSP00000285102:D63N;ENSP00000409561:D63N;ENSP00000269471:D63N;ENSP00000408846:D89N;ENSP00000339546:D63N;ENSP00000381508:D63N;ENSP00000405268:D63N;ENSP00000381506:D63N;ENSP00000381502:D63N	ENSP00000269468:D63N	D	-	1	0	MBD1	46057496	0.941000	0.31946	0.999000	0.59377	0.979000	0.70002	1.868000	0.39509	1.246000	0.43901	0.655000	0.94253	GAC		0.542	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846	
MAPK4	5596	broad.mit.edu	37	18	48252489	48252489	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:48252489C>A	ENST00000400384.2	+	5	2047	c.1011C>A	c.(1009-1011)atC>atA	p.I337I	MAPK4_ENST00000540640.1_Silent_p.I126I|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	337					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.I337I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGACGACATCGTGCTGATGG	0.602																																					p.I337I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1011A	18						.						92.0	95.0	94.0					18																	48252489		2132	4235	6367	46506487	SO:0001819	synonymous_variant	5596	exon5			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1011C>A	18.37:g.48252489C>A			46506487	NM_002747	A1A4C4|Q0VG04	Silent	SNP	ENST00000400384.2	37	CCDS42437.1																																																																																				0.602	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747	
POLI	11201	broad.mit.edu	37	18	51820119	51820119	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:51820119C>T	ENST00000579534.1	+	10	1648	c.1505C>T	c.(1504-1506)tCt>tTt	p.S502F	POLI_ENST00000406285.3_Missense_Mutation_p.S423F|POLI_ENST00000582366.1_3'UTR|POLI_ENST00000579434.1_Missense_Mutation_p.S399F|POLI_ENST00000217800.5_Missense_Mutation_p.S376F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	502					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.S477F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ACTAGGGAGTCTCCACTAGAT	0.373								DNA polymerases (catalytic subunits)																													p.S502F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1505T	18						.						23.0	24.0	23.0					18																	51820119		2203	4299	6502	50074117	SO:0001583	missense	11201	exon10				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1505C>T	18.37:g.51820119C>T	ENSP00000462664:p.Ser502Phe		50074117	NM_007195	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	C	0.649	-0.810431	0.02798	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.51325	0.71	5.4	3.57	0.40892	.	0.249547	0.41194	D	0.000931	T	0.38321	0.1036	L	0.55481	1.735	0.24426	N	0.994597	P;P	0.43826	0.61;0.818	B;B	0.34180	0.177;0.165	T	0.13683	-1.0500	10	0.33940	T	0.23	-3.4089	12.6462	0.56735	0.1308:0.7442:0.125:0.0	.	422;502	B7Z780;Q9UNA4	.;POLI_HUMAN	F	423;502	ENSP00000385196:S423F	ENSP00000217800:S502F	S	+	2	0	POLI	50074117	0.072000	0.21174	0.052000	0.19188	0.091000	0.18340	0.893000	0.28336	0.321000	0.23259	-0.808000	0.03180	TCT		0.373	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
TXNL1	9352	broad.mit.edu	37	18	54281805	54281805	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:54281805T>G	ENST00000217515.6	-	6	789	c.585A>C	c.(583-585)aaA>aaC	p.K195N	TXNL1_ENST00000540155.1_Missense_Mutation_p.K72N|TXNL1_ENST00000590954.1_Missense_Mutation_p.K195N	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	195	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)	p.K195N(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TGATAAAAATTTTTACATATT	0.348																																					p.K195N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A585C	18						.						74.0	72.0	72.0					18																	54281805		2203	4300	6503	52432803	SO:0001583	missense	9352	exon6			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.585A>C	18.37:g.54281805T>G	ENSP00000217515:p.Lys195Asn		52432803	NM_004786		Missense_Mutation	SNP	ENST00000217515.6	37	CCDS11961.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084459	0.76642	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	T	0.27104	1.69	5.51	4.36	0.52297	Proteasome-interacting thioredoxin-like domain, C-terminal (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	H	0.95079	3.62	0.80722	D	1	D;P	0.89917	1.0;0.941	D;P	0.91635	0.999;0.85	T	0.69833	-0.5038	10	0.87932	D	0	.	10.8695	0.46875	0.0:0.0744:0.0:0.9256	.	195;195	B2R960;O43396	.;TXNL1_HUMAN	N	195;72	ENSP00000217515:K195N	ENSP00000217515:K195N	K	-	3	2	TXNL1	52432803	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.925000	0.48884	0.926000	0.37118	0.528000	0.53228	AAA		0.348	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256064.2		
EPB41L3	23136	broad.mit.edu	37	18	5434098	5434098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:5434098G>A	ENST00000341928.2	-	7	968	c.628C>T	c.(628-630)Cga>Tga	p.R210*	EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.R210*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.R210*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.R210*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.R210*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	210	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R210*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATGTCATCTCGCAACTGCAAG	0.532																																					p.R210X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C628T	18						.						80.0	65.0	70.0					18																	5434098		2203	4300	6503	5424098	SO:0001587	stop_gained	23136	exon7			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.628C>T	18.37:g.5434098G>A	ENSP00000343158:p.Arg210*		5424098	NM_012307	B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	41	8.595968	0.98879	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	.	.	.	6.02	4.14	0.48551	.	0.121669	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9941	0.71415	0.0:0.0:0.6024:0.3976	.	.	.	.	X	210;101;210;101;210;210;291	.	ENSP00000343158:R210X	R	-	1	2	EPB41L3	5424098	1.000000	0.71417	0.977000	0.42913	0.962000	0.63368	1.688000	0.37690	1.511000	0.48818	0.650000	0.86243	CGA		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307	
NEDD4L	23327	broad.mit.edu	37	18	56033294	56033294	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:56033294C>T	ENST00000400345.3	+	21	2180	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	NEDD4L_ENST00000356462.6_Missense_Mutation_p.R569W|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R493W|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R605W|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R529W|NEDD4L_ENST00000456986.1_Missense_Mutation_p.R512W|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R512W|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R492W|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R625W|NEDD4L_ENST00000382850.4_Missense_Mutation_p.R613W|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R492W	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	633					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.R613W(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGAGTCCTATCGGAGAATTAT	0.388																																					p.R613W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1837T	18						.						104.0	96.0	99.0					18																	56033294		1834	4089	5923	54184274	SO:0001583	missense	23327	exon20			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1897C>T	18.37:g.56033294C>T	ENSP00000383199:p.Arg633Trp		54184274	NM_015277	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945991	0.73672	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.78246	0.84;0.84;0.84;0.84;-1.16;-1.16;0.84;-1.16;-1.16;-1.16	5.54	3.54	0.40534	HECT (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.985;0.992;0.998;0.998	D	0.91014	0.4852	10	0.87932	D	0	.	12.6729	0.56876	0.6968:0.3032:0.0:0.0	.	605;625;492;569;633;613	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	W	633;613;569;529;493;512;625;492;492;512	ENSP00000383199:R633W;ENSP00000372301:R613W;ENSP00000348847:R569W;ENSP00000256830:R529W;ENSP00000256832:R493W;ENSP00000411947:R512W;ENSP00000350569:R625W;ENSP00000393395:R492W;ENSP00000405440:R492W;ENSP00000389406:R512W	ENSP00000256830:R529W	R	+	1	2	NEDD4L	54184274	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	2.109000	0.41863	0.708000	0.31955	0.650000	0.86243	CGG		0.388	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
ALPK2	115701	broad.mit.edu	37	18	56204906	56204906	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:56204906A>G	ENST00000361673.3	-	5	2726	c.2513T>C	c.(2512-2514)gTa>gCa	p.V838A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	838						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V204A(1)|p.V838A(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCCGTATCTACAGAGCAAAT	0.398																																					p.V838A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2513C	18						.						73.0	72.0	72.0					18																	56204906		2203	4300	6503	54355886	SO:0001583	missense	115701	exon5			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2513T>C	18.37:g.56204906A>G	ENSP00000354991:p.Val838Ala		54355886	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	7.223	0.597771	0.13875	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	5.57	0.441	0.16577	.	1.514440	0.03672	N	0.244106	T	0.32496	0.0831	L	0.36672	1.1	0.09310	N	1	B;B	0.33103	0.397;0.255	B;B	0.32090	0.14;0.057	T	0.21314	-1.0249	10	0.54805	T	0.06	0.066	3.7818	0.08683	0.5981:0.0:0.2516:0.1502	.	838;838	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	A	838	ENSP00000354991:V838A	ENSP00000354991:V838A	V	-	2	0	ALPK2	54355886	0.000000	0.05858	0.019000	0.16419	0.033000	0.12548	-0.064000	0.11636	-0.141000	0.11374	0.482000	0.46254	GTA		0.398	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ALPK2	115701	broad.mit.edu	37	18	56278975	56278975	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:56278975G>T	ENST00000361673.3	-	2	268	c.55C>A	c.(55-57)Ctt>Att	p.L19I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	19	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L19I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCTGGGAAAGCAATGTAGAT	0.463																																					p.L19I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55A	18						.						106.0	106.0	106.0					18																	56278975		1826	4090	5916	54429955	SO:0001583	missense	115701	exon2			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.55C>A	18.37:g.56278975G>T	ENSP00000354991:p.Leu19Ile		54429955	NM_052947	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443119	0.63067	.	.	ENSG00000198796	ENST00000361673	T	0.66638	-0.22	5.59	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67021	0.2849	N	0.22421	0.69	0.25211	N	0.989975	D	0.63880	0.993	D	0.62955	0.909	T	0.57236	-0.7846	9	0.54805	T	0.06	-5.9189	8.8703	0.35311	0.1714:0.0:0.8286:0.0	.	19	Q86TB3	ALPK2_HUMAN	I	19	ENSP00000354991:L19I	ENSP00000354991:L19I	L	-	1	0	ALPK2	54429955	1.000000	0.71417	0.948000	0.38648	0.666000	0.39218	1.733000	0.38156	1.360000	0.45960	0.591000	0.81541	CTT		0.463	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
ZNF532	55205	broad.mit.edu	37	18	56651291	56651291	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:56651291A>G	ENST00000336078.4	+	11	4275	c.3499A>G	c.(3499-3501)Aaa>Gaa	p.K1167E	ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.K1167E|ZNF532_ENST00000591083.1_Missense_Mutation_p.K1167E|ZNF532_ENST00000591808.1_Missense_Mutation_p.K1167E|ZNF532_ENST00000591230.1_Missense_Mutation_p.K1167E	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K1167E(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GAAAAAGCTGAAAATCAATGT	0.502																																					p.K1167E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3499G	18						.						63.0	62.0	62.0					18																	56651291		2203	4300	6503	54802271	SO:0001583	missense	55205	exon11			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3499A>G	18.37:g.56651291A>G	ENSP00000338217:p.Lys1167Glu		54802271	NM_018181	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	ENST00000336078.4	37	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421815	0.83559	.	.	ENSG00000074657	ENST00000336078	T	0.01647	4.71	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	M	0.71206	2.165	0.58432	D	0.99999	D;B	0.63880	0.993;0.018	D;B	0.72625	0.978;0.017	T	0.02942	-1.1091	10	0.42905	T	0.14	2.363	15.8778	0.79180	1.0:0.0:0.0:0.0	.	1167;1167	B3KXW2;Q9HCE3	.;ZN532_HUMAN	E	1167	ENSP00000338217:K1167E	ENSP00000338217:K1167E	K	+	1	0	ZNF532	54802271	1.000000	0.71417	0.987000	0.45799	0.849000	0.48306	8.923000	0.92808	2.235000	0.73313	0.459000	0.35465	AAA		0.502	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181	
CPLX4	339302	broad.mit.edu	37	18	56985656	56985656	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:56985656T>C	ENST00000299721.3	-	1	225	c.39A>G	c.(37-39)gtA>gtG	p.V13V	CPLX4_ENST00000587244.1_Silent_p.V13V	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	13					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.V13V(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTAAATTCTTTACCTGGTTAC	0.383																																					p.V13V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A39G	18						.						131.0	121.0	124.0					18																	56985656		2203	4300	6503	55136636	SO:0001819	synonymous_variant	339302	exon1			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.39A>G	18.37:g.56985656T>C			55136636	NM_181654	F1T0L6	Silent	SNP	ENST00000299721.3	37	CCDS11973.1																																																																																				0.383	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654	
CCBE1	147372	broad.mit.edu	37	18	57134060	57134060	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:57134060C>T	ENST00000439986.4	-	5	501	c.464G>A	c.(463-465)gGc>gAc	p.G155D	RP11-27G24.3_ENST00000589242.1_RNA|CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	155	EGF-like; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)	p.G155D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCGGTAGCTGCCCAAGGTATT	0.502																																					p.G155D	NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G464A	18						.						138.0	121.0	127.0					18																	57134060		2203	4300	6503	55285040	SO:0001583	missense	147372	exon5			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.464G>A	18.37:g.57134060C>T	ENSP00000404464:p.Gly155Asp		55285040	NM_133459	Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595113	0.86953	.	.	ENSG00000183287	ENST00000439986	D	0.99557	-6.16	5.23	5.23	0.72850	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.97370	0.9975	10	0.87932	D	0	-22.5562	17.5682	0.87927	0.0:1.0:0.0:0.0	.	155	Q6UXH8	CCBE1_HUMAN	D	155	ENSP00000404464:G155D	ENSP00000404464:G155D	G	-	2	0	CCBE1	55285040	1.000000	0.71417	0.993000	0.49108	0.719000	0.41307	7.127000	0.77210	2.444000	0.82710	0.561000	0.74099	GGC		0.502	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459	
CDH20	28316	broad.mit.edu	37	18	59166573	59166573	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:59166573C>T	ENST00000262717.4	+	3	799	c.401C>T	c.(400-402)gCt>gTt	p.A134V	CDH20_ENST00000536675.2_Missense_Mutation_p.A134V|CDH20_ENST00000538374.1_Missense_Mutation_p.A134V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	134	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A134V(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACTCTAAGGGCTCAAGCCCTA	0.537																																					p.A134V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C401T	18						.						52.0	47.0	49.0					18																	59166573		2203	4300	6503	57317553	SO:0001583	missense	28316	exon2			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.401C>T	18.37:g.59166573C>T	ENSP00000262717:p.Ala134Val		57317553	NM_031891	Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996214	0.93167	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.48836	0.8;0.8;0.8	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.38838	1.175	0.80722	D	1	D	0.71674	0.998	D	0.64144	0.922	T	0.61579	-0.7034	10	0.87932	D	0	.	20.0851	0.97797	0.0:1.0:0.0:0.0	.	134	Q9HBT6	CAD20_HUMAN	V	134	ENSP00000444767:A134V;ENSP00000442226:A134V;ENSP00000262717:A134V	ENSP00000262717:A134V	A	+	2	0	CDH20	57317553	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.487000	0.81328	2.758000	0.94735	0.650000	0.86243	GCT		0.537	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891	
TMEM200C	645369	broad.mit.edu	37	18	5891952	5891952	+	Silent	SNP	G	G	A	rs200998948		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:5891952G>A	ENST00000581347.2	-	3	756	c.111C>T	c.(109-111)aaC>aaT	p.N37N	RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.N37N|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	37						integral component of membrane (GO:0016021)		p.N37N(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CCACCACGTCGTTCTTGCGCC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		21664	0.0		0.001	False		,,,				2504	0.0				p.N37N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C111T	18						.	G		0,4332		0,0,2166	96.0	104.0	102.0		111	2.1	1.0	18		102	1,8531		0,1,4265	no	coding-synonymous	TMEM200C	NM_001080209.1		0,1,6431	AA,AG,GG		0.0117,0.0,0.0078		37/622	5891952	1,12863	2166	4266	6432	5881952	SO:0001819	synonymous_variant	645369	exon1				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.111C>T	18.37:g.5891952G>A			5881952	NM_001080209		Silent	SNP	ENST00000581347.2	37	CCDS45825.1																																																																																				0.617	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209	
PHLPP1	23239	broad.mit.edu	37	18	60630690	60630690	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:60630690C>T	ENST00000262719.5	+	14	3779	c.3545C>T	c.(3544-3546)tCg>tTg	p.S1182L	PHLPP1_ENST00000400316.4_Missense_Mutation_p.S670L			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1182	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.S669L(1)		endometrium(2)|kidney(2)|lung(13)	17						ACTGAAGCTTCGGGGGTAAAA	0.458																																					p.S1182L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3545T	18						.						47.0	42.0	44.0					18																	60630690		1894	4101	5995	58781670	SO:0001583	missense	23239	exon14			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.3545C>T	18.37:g.60630690C>T	ENSP00000262719:p.Ser1182Leu		58781670	NM_194449	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663927	0.88251	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.18174	2.23;2.23	5.65	5.65	0.86999	Protein phosphatase 2C-like (4);	.	.	.	.	T	0.26268	0.0641	N	0.20986	0.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01334	-1.1382	9	0.02654	T	1	-11.3292	19.7432	0.96238	0.0:1.0:0.0:0.0	.	1182	O60346	PHLP1_HUMAN	L	670;1182	ENSP00000383170:S670L;ENSP00000262719:S1182L	ENSP00000262719:S1182L	S	+	2	0	PHLPP1	58781670	1.000000	0.71417	0.993000	0.49108	0.864000	0.49448	7.277000	0.78572	2.663000	0.90544	0.563000	0.77884	TCG		0.458	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449	
SERPINB12	89777	broad.mit.edu	37	18	61223421	61223421	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:61223421A>C	ENST00000269491.1	+	1	29	c.29A>C	c.(28-30)aAa>aCa	p.K10T	SERPINB12_ENST00000382768.1_Missense_Mutation_p.K10T	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	10					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.K10T(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GCAAACACCAAATTTTGCTTT	0.363																																					p.K10T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A29C	18						.						186.0	191.0	190.0					18																	61223421		2203	4300	6503	59374401	SO:0001583	missense	89777	exon1			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.29A>C	18.37:g.61223421A>C	ENSP00000269491:p.Lys10Thr		59374401	NM_080474	Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924779	0.73213	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.82803	-1.65;-1.65	5.57	5.57	0.84162	Serpin domain (2);	0.418532	0.24945	N	0.034348	T	0.82195	0.4984	L	0.38838	1.175	0.31815	N	0.62669	D;P	0.60575	0.988;0.942	P;P	0.58266	0.836;0.76	T	0.77861	-0.2430	10	0.09338	T	0.73	.	12.2668	0.54683	0.8583:0.1417:0.0:0.0	.	10;10	Q3SYB4;Q96P63	.;SPB12_HUMAN	T	10	ENSP00000269491:K10T;ENSP00000372218:K10T	ENSP00000269491:K10T	K	+	2	0	SERPINB12	59374401	0.007000	0.16637	1.000000	0.80357	0.997000	0.91878	2.192000	0.42649	2.124000	0.65301	0.533000	0.62120	AAA		0.363	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474	
SERPINB4	6318	broad.mit.edu	37	18	61306434	61306434	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:61306434G>A	ENST00000341074.5	-	7	868	c.753C>T	c.(751-753)atC>atT	p.I251I	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	251					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I251I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GCAGACCATCGATTTCATTTG	0.413																																					p.I251I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C753T	18						.						182.0	158.0	166.0					18																	61306434		2203	4300	6503	59457414	SO:0001819	synonymous_variant	6318	exon7			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.753C>T	18.37:g.61306434G>A			59457414	NM_002974	A8K847	Silent	SNP	ENST00000341074.5	37	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.260438	0.01445	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.17	-8.34	0.00988	.	.	.	.	.	T	0.15262	0.0368	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19614	-1.0300	4	.	.	.	.	1.7835	0.03037	0.2937:0.2186:0.3516:0.1361	.	.	.	.	L	232	.	.	S	-	2	0	SERPINB4	59457414	0.000000	0.05858	0.001000	0.08648	0.117000	0.20001	-6.131000	0.00079	-1.679000	0.01452	-0.360000	0.07572	TCG		0.413	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
SERPINB3	6317	broad.mit.edu	37	18	61324080	61324080	+	Silent	SNP	G	G	A	rs143869105		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:61324080G>A	ENST00000283752.5	-	7	896	c.753C>T	c.(751-753)atC>atT	p.I251I	SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	251					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.I251I(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGAGACCATCGATTTCATTTG	0.418																																					p.I251I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C753T	18						.						225.0	200.0	208.0					18																	61324080		2203	4300	6503	59475060	SO:0001819	synonymous_variant	6318	exon7			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.753C>T	18.37:g.61324080G>A			59475060	NM_006919	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	ENST00000283752.5	37	CCDS11987.1																																																																																				0.418	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919	
SERPINB3	6317	broad.mit.edu	37	18	61328418	61328418	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:61328418G>T	ENST00000283752.5	-	2	176	c.33C>A	c.(31-33)ttC>ttA	p.F11L	SERPINB3_ENST00000332821.8_Missense_Mutation_p.F11L|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	11					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.F11L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGTCGAACATGAACTTGGTGT	0.413																																					p.F11L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C33A	18						.						286.0	254.0	265.0					18																	61328418		2203	4300	6503	59479398	SO:0001583	missense	6318	exon2			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.33C>A	18.37:g.61328418G>T	ENSP00000283752:p.Phe11Leu		59479398	NM_006919	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	9.469	1.095155	0.20471	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.88741	-2.42;-2.42	3.13	-5.05	0.02955	Serpin domain (2);	0.349233	0.20838	N	0.084758	D	0.84447	0.5474	M	0.78049	2.395	0.09310	N	1	B;B;B;B;B	0.33379	0.118;0.41;0.032;0.41;0.41	B;B;B;B;B	0.33799	0.113;0.17;0.065;0.17;0.17	T	0.74025	-0.3797	10	0.42905	T	0.14	.	7.6315	0.28243	0.6053:0.1179:0.2769:0.0	.	11;11;11;11;11	B3W5Y6;A8K847;P29508-2;P29508;Q5K684	.;.;.;SPB3_HUMAN;.	L	11	ENSP00000283752:F11L;ENSP00000329498:F11L	ENSP00000283752:F11L	F	-	3	2	SERPINB3	59479398	0.014000	0.17966	0.000000	0.03702	0.005000	0.04900	0.186000	0.16978	-1.359000	0.02174	-0.391000	0.06502	TTC		0.413	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919	
SERPINB10	5273	broad.mit.edu	37	18	61602183	61602183	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:61602183G>T	ENST00000238508.3	+	8	960	c.901G>T	c.(901-903)Gat>Tat	p.D301Y	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	301					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D301Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AGACAGTTATGATCTCAAGTC	0.453																																					p.D301Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G901T	18						.						141.0	121.0	127.0					18																	61602183		2203	4300	6503	59753163	SO:0001583	missense	5273	exon7			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.901G>T	18.37:g.61602183G>T	ENSP00000238508:p.Asp301Tyr		59753163	NM_005024	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863516	0.32884	.	.	ENSG00000242550	ENST00000238508	D	0.85411	-1.98	5.53	5.53	0.82687	Serpin domain (3);	0.103245	0.64402	D	0.000003	D	0.93706	0.7989	M	0.93594	3.435	0.43043	D	0.994632	D	0.76494	0.999	D	0.69479	0.964	D	0.94739	0.7917	10	0.72032	D	0.01	.	13.7581	0.62948	0.0:0.0:0.8466:0.1534	.	301	P48595	SPB10_HUMAN	Y	301	ENSP00000238508:D301Y	ENSP00000238508:D301Y	D	+	1	0	SERPINB10	59753163	0.908000	0.30866	0.950000	0.38849	0.039000	0.13416	0.895000	0.28363	2.769000	0.95229	0.655000	0.94253	GAT		0.453	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
SERPINB10	5273	broad.mit.edu	37	18	61602399	61602399	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:61602399A>C	ENST00000238508.3	+	8	1176	c.1117A>C	c.(1117-1119)Aat>Cat	p.N373H	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	373					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N373H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				ATTCAATGCAAATCACCCATT	0.403																																					p.N373H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1117C	18						.						135.0	133.0	134.0					18																	61602399		2203	4300	6503	59753379	SO:0001583	missense	5273	exon7			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.1117A>C	18.37:g.61602399A>C	ENSP00000238508:p.Asn373His		59753379	NM_005024	Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208741	0.39003	.	.	ENSG00000242550	ENST00000238508	D	0.88046	-2.33	5.65	2.77	0.32553	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.100645	0.64402	D	0.000003	D	0.87958	0.6309	M	0.91920	3.255	0.32997	D	0.525768	B	0.15473	0.013	B	0.12837	0.008	D	0.85975	0.1479	10	0.87932	D	0	.	7.5407	0.27737	0.1577:0.1348:0.7075:0.0	.	373	P48595	SPB10_HUMAN	H	373	ENSP00000238508:N373H	ENSP00000238508:N373H	N	+	1	0	SERPINB10	59753379	1.000000	0.71417	0.015000	0.15790	0.001000	0.01503	4.759000	0.62227	0.359000	0.24239	-0.242000	0.12053	AAT		0.403	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024	
CDH19	28513	broad.mit.edu	37	18	64212020	64212020	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:64212020T>C	ENST00000540086.1	-	6	1142	c.896A>G	c.(895-897)gAt>gGt	p.D299G	CDH19_ENST00000262150.2_Missense_Mutation_p.D299G	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	409	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D299G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGTTTGCGAATCATCCTCTTC	0.343																																					p.D299G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A896G	18						.						119.0	108.0	112.0					18																	64212020		2203	4300	6503	62363000	SO:0001583	missense	28513	exon6			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.896A>G	18.37:g.64212020T>C	ENSP00000439593:p.Asp299Gly		62363000	NM_021153	O15098	Missense_Mutation	SNP	ENST00000540086.1	37	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	8.930	0.963234	0.18583	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.50548	0.74;0.74	5.28	2.92	0.33932	Cadherin (4);Cadherin-like (1);	0.837468	0.10910	N	0.620722	T	0.37812	0.1017	L	0.55213	1.73	0.28825	N	0.897477	B;B	0.13145	0.003;0.007	B;B	0.12156	0.006;0.007	T	0.32455	-0.9906	10	0.27785	T	0.31	.	3.1982	0.06640	0.0:0.3684:0.2361:0.3955	.	299;299	F5H1K0;Q9H159	.;CAD19_HUMAN	G	299;299;244	ENSP00000262150:D299G;ENSP00000439593:D299G	ENSP00000262150:D299G	D	-	2	0	CDH19	62363000	0.023000	0.18921	0.835000	0.33067	0.811000	0.45836	0.837000	0.27558	0.843000	0.35070	0.402000	0.26972	GAT		0.343	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
DSEL	92126	broad.mit.edu	37	18	65178592	65178592	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:65178592C>T	ENST00000310045.7	-	2	4757	c.3284G>A	c.(3283-3285)aGg>aAg	p.R1095K	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1085					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.R1095K(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAATTCTTTCCTCAATGGTTC	0.368																																					p.R1095K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3284A	18						.						66.0	63.0	64.0					18																	65178592		2203	4300	6503	63329572	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3284G>A	18.37:g.65178592C>T	ENSP00000310565:p.Arg1095Lys		63329572	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755367	0.31046	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.82711	-1.64	4.79	1.37	0.22104	Sulfotransferase domain (1);	0.349225	0.25570	N	0.029765	T	0.65059	0.2655	N	0.14661	0.345	0.21878	N	0.999495	B	0.02656	0.0	B	0.08055	0.003	T	0.48570	-0.9024	10	0.22706	T	0.39	-4.6372	8.3731	0.32427	0.0:0.6537:0.0:0.3463	.	1085	Q8IZU8	DSEL_HUMAN	K	1095;1085	ENSP00000310565:R1095K	ENSP00000310565:R1095K	R	-	2	0	DSEL	63329572	0.995000	0.38212	0.902000	0.35471	0.981000	0.71138	1.452000	0.35156	-0.010000	0.14271	0.563000	0.77884	AGG		0.368	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
DSEL	92126	broad.mit.edu	37	18	65181789	65181789	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:65181789G>T	ENST00000310045.7	-	2	1560	c.87C>A	c.(85-87)ttC>ttA	p.F29L	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	19					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.F29L(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CAAAAGTAGAGAAAGCAAACA	0.388																																					p.F29L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C87A	18						.						87.0	80.0	83.0					18																	65181789		2203	4300	6503	63332769	SO:0001583	missense	92126	exon2			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.87C>A	18.37:g.65181789G>T	ENSP00000310565:p.Phe29Leu		63332769	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	2.379	-0.342579	0.05243	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22743	1.94	5.01	-0.551	0.11822	.	0.620439	0.15677	N	0.250087	T	0.08044	0.0201	N	0.16478	0.41	0.29181	N	0.87651	B	0.02656	0.0	B	0.04013	0.001	T	0.38714	-0.9648	10	0.06625	T	0.88	-2.8956	3.1769	0.06571	0.2864:0.1065:0.497:0.1102	.	19	Q8IZU8	DSEL_HUMAN	L	29;19	ENSP00000310565:F29L	ENSP00000310565:F29L	F	-	3	2	DSEL	63332769	0.998000	0.40836	0.981000	0.43875	0.799000	0.45148	0.427000	0.21379	-0.443000	0.07180	-2.619000	0.00157	TTC		0.388	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
CCDC102B	79839	broad.mit.edu	37	18	66721328	66721328	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:66721328G>A	ENST00000360242.5	+	8	1613	c.1496G>A	c.(1495-1497)aGa>aAa	p.R499K	CCDC102B_ENST00000319445.6_Missense_Mutation_p.R499K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	499								p.R499K(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAGAAAGAAAGAAATGAAAAC	0.368																																					p.R499K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1496A	18						.						78.0	77.0	77.0					18																	66721328		2203	4299	6502	64872308	SO:0001583	missense	79839	exon10			AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1496G>A	18.37:g.66721328G>A	ENSP00000353377:p.Arg499Lys		64872308	NM_001093729	Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	7.741	0.701227	0.15172	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.10668	2.85;2.85	5.05	-4.57	0.03421	.	1.856880	0.03418	U	0.205832	T	0.05777	0.0151	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32241	-0.9914	10	0.07813	T	0.8	3.982	1.5756	0.02624	0.1284:0.1771:0.2728:0.4218	.	499	Q68D86	C102B_HUMAN	K	499	ENSP00000316237:R499K;ENSP00000353377:R499K	ENSP00000316237:R499K	R	+	2	0	CCDC102B	64872308	0.000000	0.05858	0.022000	0.16811	0.161000	0.22273	-1.180000	0.03088	-0.765000	0.04645	-0.531000	0.04308	AGA		0.368	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781	
CD226	10666	broad.mit.edu	37	18	67563226	67563226	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:67563226C>A	ENST00000280200.4	-	4	706	c.438G>T	c.(436-438)aaG>aaT	p.K146N	CD226_ENST00000581982.1_5'UTR|CD226_ENST00000577287.1_5'UTR|CD226_ENST00000582621.1_Missense_Mutation_p.K146N	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	146	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)	p.K146N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GTGTGACATTCTTTCCAGGTT	0.458																																					p.K146N	NSCLC(184;838 2130 8673 21498 50749)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438T	18						.						101.0	83.0	89.0					18																	67563226		2203	4300	6503	65714206	SO:0001583	missense	10666	exon4			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.438G>T	18.37:g.67563226C>A	ENSP00000280200:p.Lys146Asn		65714206	NM_006566	B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	1.856	-0.463777	0.04476	.	.	ENSG00000150637	ENST00000280200	T	0.21734	1.99	4.86	-0.744	0.11101	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.846872	0.11210	N	0.587796	T	0.14098	0.0341	L	0.48362	1.52	0.18873	N	0.999982	B	0.16396	0.017	B	0.14578	0.011	T	0.31138	-0.9954	10	0.23891	T	0.37	.	3.1072	0.06346	0.1749:0.201:0.0:0.6241	.	146	Q15762	CD226_HUMAN	N	146	ENSP00000280200:K146N	ENSP00000280200:K146N	K	-	3	2	CD226	65714206	0.025000	0.19082	0.197000	0.23402	0.005000	0.04900	-0.069000	0.11542	0.386000	0.24997	-0.451000	0.05528	AAG		0.458	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566	
NETO1	81832	broad.mit.edu	37	18	70451031	70451031	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:70451031G>T	ENST00000327305.6	-	7	1407	c.750C>A	c.(748-750)ttC>ttA	p.F250L	NETO1_ENST00000299430.2_Missense_Mutation_p.F249L|NETO1_ENST00000583169.1_Missense_Mutation_p.F250L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	250	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.F250L(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGTGCTACAGAACTTAGCTT	0.478																																					p.F250L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C750A	18						.						197.0	168.0	178.0					18																	70451031		2203	4300	6503	68602011	SO:0001583	missense	81832	exon7			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.750C>A	18.37:g.70451031G>T	ENSP00000313088:p.Phe250Leu		68602011	NM_138966	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162493	0.78226	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.19394	2.15;2.15	5.27	4.16	0.48862	CUB (5);	0.000000	0.64402	D	0.000006	T	0.38825	0.1055	M	0.73598	2.24	0.80722	D	1	D;B	0.56035	0.974;0.199	D;B	0.70487	0.969;0.306	T	0.32295	-0.9912	10	0.87932	D	0	-21.2827	3.8425	0.08920	0.3394:0.0:0.6606:0.0	.	249;250	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	L	250;249	ENSP00000313088:F250L;ENSP00000299430:F249L	ENSP00000299430:F249L	F	-	3	2	NETO1	68602011	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.482000	0.60257	2.599000	0.87857	0.650000	0.86243	TTC		0.478	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	
FBXO15	201456	broad.mit.edu	37	18	71790624	71790624	+	Missense_Mutation	SNP	G	G	A	rs144253482		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:71790624G>A	ENST00000419743.2	-	8	1196	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	FBXO15_ENST00000269500.5_Missense_Mutation_p.R297C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	373						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAGAGATTGCGAAATGTACCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15347	0.0		0.0	False		,,,				2504	0.001				p.R297C												.	.	0			c.C889T	18						.	G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	76.0	76.0		1117,889	4.6	0.0	18	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO15	NM_001142958.1,NM_152676.2	180,180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	373/511,297/435	71790624	2,13004	2203	4300	6503	69941604	SO:0001583	missense	201456	exon8			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1117C>T	18.37:g.71790624G>A	ENSP00000393154:p.Arg373Cys		69941604	NM_152676	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822669	0.32237	2.27E-4	1.16E-4	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.88;0.88	5.45	4.58	0.56647	.	0.718217	0.13850	N	0.358421	T	0.50837	0.1639	L	0.59436	1.845	0.09310	N	0.999999	D;D	0.76494	0.999;0.998	P;P	0.50490	0.642;0.549	T	0.46775	-0.9167	10	0.87932	D	0	-24.4827	14.1359	0.65287	0.0:0.1514:0.8486:0.0	.	373;297	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	297;373	ENSP00000269500:R297C;ENSP00000393154:R373C	ENSP00000269500:R297C	R	-	1	0	FBXO15	69941604	0.793000	0.28825	0.007000	0.13788	0.007000	0.05969	1.823000	0.39062	1.290000	0.44636	0.655000	0.94253	CGC		0.428	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	NM_152676	
FAM69C	125704	broad.mit.edu	37	18	72109206	72109206	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:72109206C>T	ENST00000343998.6	-	3	1030	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	FAM69C_ENST00000400291.2_Missense_Mutation_p.R42H	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	341						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R42H(1)		breast(1)|large_intestine(2)|ovary(2)	5						GTTGTTTACGCGCTGCGCTCC	0.502																																					p.R341H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1022A	18						.						112.0	118.0	116.0					18																	72109206		1980	4140	6120	70260186	SO:0001583	missense	125704	exon3			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"""chromosome 18 open reading frame 51"""	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.1022G>A	18.37:g.72109206C>T	ENSP00000344331:p.Arg341His		70260186	NM_001044369		Missense_Mutation	SNP	ENST00000343998.6	37	CCDS42445.2	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907893	0.52333	.	.	ENSG00000187773	ENST00000400291;ENST00000343998	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.81239	2.535	0.38571	D	0.949949	D	0.89917	1.0	D	0.91635	0.999	D	0.83410	0.0027	9	0.51188	T	0.08	-10.264	18.8794	0.92351	0.0:1.0:0.0:0.0	.	341	Q0P6D2	FA69C_HUMAN	H	42;341	.	ENSP00000344331:R341H	R	-	2	0	FAM69C	70260186	1.000000	0.71417	0.007000	0.13788	0.038000	0.13279	7.398000	0.79919	2.520000	0.84964	0.650000	0.86243	CGC		0.502	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346971.2	XM_058931	
CNDP2	55748	broad.mit.edu	37	18	72178078	72178078	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:72178078G>A	ENST00000324262.4	+	6	803	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	CNDP2_ENST00000324301.8_Missense_Mutation_p.E79K|CNDP2_ENST00000579847.1_Missense_Mutation_p.E163K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	163					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)	p.E163K(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ATTCTGCCTCGAAGGCATGGA	0.498																																					p.E163K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G487A	18						.						131.0	120.0	123.0					18																	72178078		2203	4300	6503	70329058	SO:0001583	missense	55748	exon6			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.487G>A	18.37:g.72178078G>A	ENSP00000325548:p.Glu163Lys		70329058	NM_018235	B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	ENST00000324262.4	37	CCDS12006.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528231	0.44969	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.54071	0.59;0.59	6.17	5.3	0.74995	ArgE/DapE/ACY1/CPG2/YscS, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92489	0.5999	10	0.87932	D	0	-8.0764	17.6945	0.88277	0.0:0.1227:0.8773:0.0	.	79;163	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	K	163;79	ENSP00000325548:E163K;ENSP00000325756:E79K	ENSP00000325548:E163K	E	+	1	0	CNDP2	70329058	1.000000	0.71417	0.884000	0.34674	0.269000	0.26545	9.756000	0.98918	1.611000	0.50210	0.655000	0.94253	GAA		0.498	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256327.1	NM_018235	
LRRC30	339291	broad.mit.edu	37	18	7231884	7231884	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:7231884G>A	ENST00000383467.2	+	1	762	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	250								p.E250K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTCCCGAGCGAACTCCACCT	0.567																																					p.E250K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	18						.						75.0	79.0	78.0					18																	7231884		2022	4189	6211	7221884	SO:0001583	missense	339291	exon1				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.748G>A	18.37:g.7231884G>A	ENSP00000372959:p.Glu250Lys		7221884	NM_001105581		Missense_Mutation	SNP	ENST00000383467.2	37	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836340	0.71373	.	.	ENSG00000206422	ENST00000383467	T	0.46063	0.88	5.8	5.8	0.92144	.	0.091594	0.85682	D	0.000000	T	0.67011	0.2848	M	0.82193	2.58	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.62905	-0.6755	10	0.25751	T	0.34	.	20.0637	0.97700	0.0:0.0:1.0:0.0	.	250	A6NM36	LRC30_HUMAN	K	250	ENSP00000372959:E250K	ENSP00000372959:E250K	E	+	1	0	LRRC30	7221884	1.000000	0.71417	0.411000	0.26484	0.066000	0.16364	7.394000	0.79862	2.751000	0.94390	0.650000	0.86243	GAA		0.567	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	
LRRC30	339291	broad.mit.edu	37	18	7232012	7232012	+	Silent	SNP	C	C	T	rs370002253		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:7232012C>T	ENST00000383467.2	+	1	890	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	292								p.F292F(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGATGCTCTTCGGCTACCTGA	0.587																																					p.F292F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C876T	18						.	C		1,3871		0,1,1935	111.0	119.0	116.0		876	2.1	1.0	18		116	0,8284		0,0,4142	no	coding-synonymous	LRRC30	NM_001105581.1		0,1,6077	TT,TC,CC		0.0,0.0258,0.0082		292/302	7232012	1,12155	1936	4142	6078	7222012	SO:0001819	synonymous_variant	339291	exon1				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.876C>T	18.37:g.7232012C>T			7222012	NM_001105581		Silent	SNP	ENST00000383467.2	37	CCDS42409.1																																																																																				0.587	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	
TSHZ1	10194	broad.mit.edu	37	18	73000406	73000406	+	Missense_Mutation	SNP	C	C	T	rs535727349		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:73000406C>T	ENST00000580243.1	+	2	3392	c.3044C>T	c.(3043-3045)tCg>tTg	p.S1015L	TSHZ1_ENST00000322038.5_Missense_Mutation_p.S970L			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1015					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S970L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGAATGTTTCGAAAGTCCTC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		19621	0.0		0.0	False		,,,				2504	0.001				p.S970L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2909T	18						.						70.0	72.0	71.0					18																	73000406		2203	4300	6503	71129394	SO:0001583	missense	10194	exon2			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.3044C>T	18.37:g.73000406C>T	ENSP00000464391:p.Ser1015Leu		71129394	NM_005786	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37		.	.	.	.	.	.	.	.	.	.	C	12.05	1.822877	0.32237	.	.	ENSG00000179981	ENST00000322038	T	0.32753	1.44	5.28	5.28	0.74379	.	0.364529	0.29624	N	0.011625	T	0.30417	0.0764	L	0.32530	0.975	0.35247	D	0.778343	D	0.53151	0.958	B	0.41917	0.37	T	0.11012	-1.0605	10	0.87932	D	0	-12.5546	19.2779	0.94039	0.0:1.0:0.0:0.0	.	1015	Q6ZSZ6	TSH1_HUMAN	L	970	ENSP00000323584:S970L	ENSP00000323584:S970L	S	+	2	0	TSHZ1	71129394	1.000000	0.71417	0.153000	0.22517	0.940000	0.58332	7.445000	0.80570	-0.472000	0.06881	-1.261000	0.01458	TCG		0.502	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786	
ZNF236	7776	broad.mit.edu	37	18	74563738	74563738	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:74563738G>A	ENST00000253159.8	+	3	398	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Missense_Mutation_p.R69Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	67					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R67Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TAGCCACATCGATGTGACCAG	0.398																																					p.R67Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G200A	18						.						81.0	77.0	78.0					18																	74563738		1862	4101	5963	72692726	SO:0001583	missense	7776	exon3			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.200G>A	18.37:g.74563738G>A	ENSP00000253159:p.Arg67Gln		72692726	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	33	5.219751	0.95139	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.16457	2.34;2.34	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.31231	0.0790	N	0.20881	0.62	0.58432	D	0.999997	D;D	0.89917	0.997;1.0	D;D	0.87578	0.923;0.998	T	0.04413	-1.0953	10	0.49607	T	0.09	.	19.5852	0.95487	0.0:0.0:1.0:0.0	.	67;67	Q9NWI2;Q9UL36	.;ZN236_HUMAN	Q	67	ENSP00000253159:R67Q;ENSP00000444524:R67Q	ENSP00000253159:R67Q	R	+	2	0	ZNF236	72692726	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.496000	0.97967	2.633000	0.89246	0.585000	0.79938	CGA		0.398	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
ZNF236	7776	broad.mit.edu	37	18	74637427	74637427	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:74637427A>G	ENST00000253159.8	+	22	4136	c.3938A>G	c.(3937-3939)aAc>aGc	p.N1313S	ZNF236_ENST00000320610.9_Missense_Mutation_p.N1315S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1313					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N1313S(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATCATGAACAACTCTGTTCTA	0.507																																					p.N1313S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3938G	18						.						78.0	76.0	77.0					18																	74637427		1993	4174	6167	72766415	SO:0001583	missense	7776	exon22			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3938A>G	18.37:g.74637427A>G	ENSP00000253159:p.Asn1313Ser		72766415	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.515097	0.27123	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10573	2.86;3.02	4.53	2.11	0.27256	.	0.170606	0.49916	N	0.000137	T	0.05181	0.0138	N	0.12746	0.255	0.31742	N	0.635683	B	0.13594	0.008	B	0.10450	0.005	T	0.30031	-0.9992	10	0.22109	T	0.4	.	7.1829	0.25782	0.7346:0.0:0.2654:0.0	.	1313	Q9UL36	ZN236_HUMAN	S	1313	ENSP00000253159:N1313S;ENSP00000444524:N1313S	ENSP00000253159:N1313S	N	+	2	0	ZNF236	72766415	1.000000	0.71417	0.774000	0.31636	0.604000	0.37047	2.372000	0.44257	0.221000	0.20879	0.455000	0.32223	AAC		0.507	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
ZNF236	7776	broad.mit.edu	37	18	74639913	74639913	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:74639913C>T	ENST00000253159.8	+	25	4637	c.4439C>T	c.(4438-4440)tCg>tTg	p.S1480L	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1482L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1480					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1480L(4)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTGATGACTTCGCAAGGTCTA	0.498																																					p.S1480L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C4439T	18						.						75.0	76.0	75.0					18																	74639913		1861	4102	5963	72768901	SO:0001583	missense	7776	exon25			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4439C>T	18.37:g.74639913C>T	ENSP00000253159:p.Ser1480Leu		72768901	NM_007345	B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102308	0.76983	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11277	2.79;2.94	5.28	5.28	0.74379	.	0.351696	0.27901	N	0.017395	T	0.09512	0.0234	L	0.29908	0.895	0.25816	N	0.984339	D	0.52996	0.957	B	0.36378	0.223	T	0.11275	-1.0594	10	0.72032	D	0.01	.	18.9507	0.92640	0.0:1.0:0.0:0.0	.	1480	Q9UL36	ZN236_HUMAN	L	1480	ENSP00000253159:S1480L;ENSP00000444524:S1480L	ENSP00000253159:S1480L	S	+	2	0	ZNF236	72768901	0.511000	0.26179	0.001000	0.08648	0.687000	0.40016	4.424000	0.59868	2.476000	0.83614	0.579000	0.79373	TCG		0.498	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1		
YES1	7525	broad.mit.edu	37	18	743272	743272	+	Missense_Mutation	SNP	C	C	T	rs188857712		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:743272C>T	ENST00000584307.1	-	7	1038	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	YES1_ENST00000314574.4_Missense_Mutation_p.E290K|YES1_ENST00000577961.1_Missense_Mutation_p.E295K			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	ATCCACACTTCGCCGAAACAT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		18738	0.0		0.001	False		,,,				2504	0.0				p.E290K												.	.	0			c.G868A	18						.						109.0	101.0	104.0					18																	743272		2203	4300	6503	733272	SO:0001583	missense	7525	exon7			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.868G>A	18.37:g.743272C>T	ENSP00000462468:p.Glu290Lys		733272	NM_005433	A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	CCDS11824.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.2	4.499711	0.85176	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.82433	-1.61	5.69	5.69	0.88448	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	N	0.12443	0.215	0.80722	D	1	P	0.48694	0.914	B	0.40602	0.334	T	0.79366	-0.1833	10	0.87932	D	0	.	19.8252	0.96614	0.0:1.0:0.0:0.0	.	290	P07947	YES_HUMAN	K	290	ENSP00000324740:E290K	ENSP00000324740:E290K	E	-	1	0	YES1	733272	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.717000	0.84732	2.692000	0.91855	0.655000	0.94253	GAA		0.373	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433	
PTPRM	5797	broad.mit.edu	37	18	8247878	8247878	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:8247878A>C	ENST00000332175.8	+	16	3525	c.2488A>C	c.(2488-2490)Aat>Cat	p.N830H	PTPRM_ENST00000400060.4_Missense_Mutation_p.N830H|PTPRM_ENST00000580170.1_Missense_Mutation_p.N830H|PTPRM_ENST00000444013.1_Missense_Mutation_p.N617H|PTPRM_ENST00000400053.4_Missense_Mutation_p.N768H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	830					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N830H(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AATGAAAACAAATACACTGAG	0.463																																					p.N830H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2488C	18						.						203.0	174.0	183.0					18																	8247878		2203	4300	6503	8237878	SO:0001583	missense	5797	exon16			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2488A>C	18.37:g.8247878A>C	ENSP00000331418:p.Asn830His		8237878	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866499	0.51588	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.47869	1.15;1.14;0.97;0.83	6.17	6.17	0.99709	.	0.200854	0.51477	D	0.000096	T	0.52403	0.1732	N	0.19112	0.55	0.58432	D	0.999998	B;D;D	0.65815	0.306;0.995;0.995	B;D;D	0.75484	0.243;0.986;0.986	T	0.44997	-0.9291	10	0.12103	T	0.63	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	617;830;830	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	H	830;830;768;617	ENSP00000331418:N830H;ENSP00000382933:N830H;ENSP00000382927:N768H;ENSP00000387608:N617H	ENSP00000331418:N830H	N	+	1	0	PTPRM	8237878	1.000000	0.71417	0.780000	0.31762	0.949000	0.60115	8.201000	0.89735	2.371000	0.80710	0.533000	0.62120	AAT		0.463	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
PTPRM	5797	broad.mit.edu	37	18	8314784	8314784	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:8314784C>A	ENST00000332175.8	+	19	3846	c.2809C>A	c.(2809-2811)Cat>Aat	p.H937N	PTPRM_ENST00000400060.4_Missense_Mutation_p.H951N|PTPRM_ENST00000580170.1_Missense_Mutation_p.H950N|PTPRM_ENST00000444013.1_Missense_Mutation_p.H724N|PTPRM_ENST00000400053.4_Missense_Mutation_p.H875N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	937	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H937N(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGCAGACGATCATTCCCGAGT	0.368																																					p.H937N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2809A	18						.						152.0	144.0	146.0					18																	8314784		2203	4300	6503	8304784	SO:0001583	missense	5797	exon19			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2809C>A	18.37:g.8314784C>A	ENSP00000331418:p.His937Asn		8304784	NM_002845	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576665	0.86645	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.86	5.86	0.93980	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	M	0.74546	2.27	0.58432	D	0.999997	D;P;P	0.76494	0.999;0.902;0.902	D;D;D	0.79108	0.992;0.941;0.96	T	0.60419	-0.7267	10	0.87932	D	0	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	724;950;937	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	937;951;875;724	ENSP00000331418:H937N;ENSP00000382933:H951N;ENSP00000382927:H875N;ENSP00000387608:H724N	ENSP00000331418:H937N	H	+	1	0	PTPRM	8304784	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.460000	0.73518	2.777000	0.95525	0.655000	0.94253	CAT		0.368	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
ANKRD12	23253	broad.mit.edu	37	18	9195555	9195555	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:9195555G>T	ENST00000262126.4	+	3	334	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	ANKRD12_ENST00000400020.3_Missense_Mutation_p.D32Y|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Missense_Mutation_p.D32Y	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	32						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D32Y(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATAGAGTAAAGACAAGATTGC	0.313																																					p.D32Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G94T	18						.						49.0	45.0	46.0					18																	9195555		2203	4300	6503	9185555	SO:0001583	missense	23253	exon3			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.94G>T	18.37:g.9195555G>T	ENSP00000262126:p.Asp32Tyr		9185555	NM_015208	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527033	0.64860	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T;T	0.47869	3.38;0.83;3.38	5.69	5.69	0.88448	.	0.172988	0.50627	D	0.000112	T	0.62925	0.2468	L	0.48642	1.525	0.80722	D	1	P;D;D	0.76494	0.828;0.999;0.999	B;D;P	0.63192	0.44;0.912;0.879	T	0.63919	-0.6528	10	0.87932	D	0	-2.3174	19.8141	0.96558	0.0:0.0:1.0:0.0	.	32;32;32	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	Y	32	ENSP00000372932:D32Y;ENSP00000441510:D32Y;ENSP00000262126:D32Y	ENSP00000262126:D32Y	D	+	1	0	ANKRD12	9185555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.036000	0.93758	2.697000	0.92050	0.555000	0.69702	GAC		0.313	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
PPP4R1	9989	broad.mit.edu	37	18	9557367	9557367	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:9557367C>T	ENST00000400556.3	-	15	2115	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	PPP4R1_ENST00000400555.3_Missense_Mutation_p.R664Q	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	681					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)	p.R681Q(1)		large_intestine(1)|skin(2)	3						TGCTAGAGTTCGTCGAACTTT	0.368																																					p.R681Q	Melanoma(188;1232 2082 5061 11948 35994)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2042A	18						.						116.0	111.0	113.0					18																	9557367		1862	4103	5965	9547367	SO:0001583	missense	9989	exon15			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2042G>A	18.37:g.9557367C>T	ENSP00000383402:p.Arg681Gln		9547367	NM_001042388	Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	C	37	6.213056	0.97380	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.33865	1.39;1.39	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.102767	0.64402	D	0.000004	T	0.62356	0.2421	M	0.87900	2.915	0.58432	D	0.999999	D;D;P	0.65815	0.991;0.995;0.935	P;P;P	0.55824	0.772;0.783;0.785	T	0.66308	-0.5956	9	.	.	.	-15.5044	20.1184	0.97949	0.0:1.0:0.0:0.0	.	664;681;664	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	Q	681;664	ENSP00000383402:R681Q;ENSP00000383401:R664Q	.	R	-	2	0	PPP4R1	9547367	1.000000	0.71417	0.925000	0.36789	0.947000	0.59692	7.487000	0.81328	2.769000	0.95229	0.655000	0.94253	CGA		0.368	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134	
ZNF271	10778	broad.mit.edu	37	18	32886665	32886665	+	RNA	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:32886665T>C	ENST00000399070.3	+	0	1059					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I26T(1)		large_intestine(3)|lung(9)	12						AGAAACCATATCCATGTAATC	0.408																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	18						.						68.0	70.0	69.0					18																	32886665		2203	4300	6503	31140663			10778	.			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886665T>C			31140663	.	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	Missense_Mutation	SNP	ENST00000399070.3	37																																																																																					0.408	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565	
GALR1	2587	broad.mit.edu	37	18	74980670	74980670	+	Missense_Mutation	SNP	G	G	A	rs149816752		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr18:74980670G>A	ENST00000299727.3	+	3	862	c.862G>A	c.(862-864)Gcc>Acc	p.A288T		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	288					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.A288T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CAGAATCACCGCCCACTGCCT	0.498																																					p.A288T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G862A	18						.	G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	91.0	90.0	90.0		862	4.8	0.9	18	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALR1	NM_001480.3	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	288/350	74980670	2,13004	2203	4300	6503	73109658	SO:0001583	missense	2587	exon3			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.862G>A	18.37:g.74980670G>A	ENSP00000299727:p.Ala288Thr		73109658	NM_001480	Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499981	0.85176	2.27E-4	1.16E-4	ENSG00000166573	ENST00000299727	T	0.58797	0.31	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.69525	-0.5122	10	0.38643	T	0.18	.	17.5719	0.87936	0.0:0.0:1.0:0.0	.	288	P47211	GALR1_HUMAN	T	288	ENSP00000299727:A288T	ENSP00000299727:A288T	A	+	1	0	GALR1	73109658	1.000000	0.71417	0.935000	0.37517	0.900000	0.52787	7.512000	0.81728	2.248000	0.74166	0.563000	0.77884	GCC		0.498	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1		
DNMT1	1786	broad.mit.edu	37	19	10265092	10265092	+	Silent	SNP	C	C	T	rs202058239		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:10265092C>T	ENST00000340748.4	-	21	2083	c.1848G>A	c.(1846-1848)acG>acA	p.T616T	DNMT1_ENST00000359526.4_Silent_p.T632T|DNMT1_ENST00000540357.1_Silent_p.T616T			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	616					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T616T(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGGTGGCTTTCGTGGGTCCCC	0.552																																					p.T632T												.	.	1	Substitution - coding silent(1)	prostate(1)	c.G1896A	19						.	C	,	0,4406		0,0,2203	165.0	167.0	166.0		1896,1848	-5.4	0.6	19		166	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	DNMT1	NM_001130823.1,NM_001379.2	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	632/1633,616/1617	10265092	3,13003	2203	4300	6503	10126092	SO:0001819	synonymous_variant	1786	exon22			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1848G>A	19.37:g.10265092C>T			10126092	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	CCDS12228.1																																																																																				0.552	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
DNMT1	1786	broad.mit.edu	37	19	10267124	10267124	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:10267124C>T	ENST00000340748.4	-	17	1529	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	DNMT1_ENST00000359526.4_Missense_Mutation_p.E448K|DNMT1_ENST00000540357.1_Missense_Mutation_p.E432K			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	432	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E432K(3)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AAGAAGAGTTCGATATTCTTC	0.453																																					p.E448K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1342A	19						.						127.0	111.0	116.0					19																	10267124		2203	4300	6503	10128124	SO:0001583	missense	1786	exon18			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1294G>A	19.37:g.10267124C>T	ENSP00000345739:p.Glu432Lys		10128124	NM_001130823	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535860	0.27475	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.77620	-1.11;-1.11;-1.11	5.65	3.53	0.40419	DNA (cytosine-5)-methyltransferase 1, replication foci domain (1);	0.051080	0.85682	N	0.000000	T	0.76564	0.4005	M	0.80982	2.52	0.53688	D	0.999976	B;B;B	0.25351	0.102;0.102;0.124	B;B;B	0.24269	0.031;0.031;0.052	T	0.73792	-0.3871	10	0.45353	T	0.12	.	10.6514	0.45651	0.0:0.7946:0.1332:0.0722	.	432;448;432	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	K	448;432;432;300	ENSP00000352516:E448K;ENSP00000440457:E432K;ENSP00000345739:E432K	ENSP00000345739:E432K	E	-	1	0	DNMT1	10128124	1.000000	0.71417	0.043000	0.18650	0.281000	0.26958	4.721000	0.61951	0.933000	0.37291	0.655000	0.94253	GAA		0.453	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
KEAP1	9817	broad.mit.edu	37	19	10599902	10599902	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:10599902C>T	ENST00000171111.5	-	5	2221	c.1674G>A	c.(1672-1674)ggG>ggA	p.G558G	KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Silent_p.G558G	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	558					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.G558G(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGACAGTGATCCCCAGGGCAC	0.577																																					p.G558G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1674A	19						.						56.0	47.0	50.0					19																	10599902		2203	4300	6503	10460902	SO:0001819	synonymous_variant	9817	exon5			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1674G>A	19.37:g.10599902C>T			10460902	NM_203500	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	CCDS12239.1																																																																																				0.577	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289	
KRI1	65095	broad.mit.edu	37	19	10668734	10668734	+	Missense_Mutation	SNP	C	C	T	rs150288571		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:10668734C>T	ENST00000312962.6	-	14	1310	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Missense_Mutation_p.D427N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	425						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.D431N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CAGTTCCAGTCGTCTGGATGC	0.637																																					p.D431N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1291A	19						.	C	ASN/ASP	0,4406		0,0,2203	65.0	56.0	60.0		1291	4.3	0.9	19	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRI1	NM_023008.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	431/710	10668734	1,13005	2203	4300	6503	10529734	SO:0001583	missense	65095	exon14				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1291G>A	19.37:g.10668734C>T	ENSP00000320917:p.Asp431Asn		10529734	NM_023008	Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	6.642	0.486931	0.12641	0.0	1.16E-4	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.29142	1.58;1.58	5.35	4.3	0.51218	.	0.501062	0.22248	N	0.062596	T	0.24624	0.0597	L	0.39020	1.185	0.09310	N	1	B;B	0.26363	0.085;0.147	B;B	0.24394	0.02;0.053	T	0.11155	-1.0599	10	0.18710	T	0.47	-51.4954	14.9131	0.70773	0.0:0.8554:0.1446:0.0	.	431;427	Q8N9T8;D3YTE0	KRI1_HUMAN;.	N	431;427;431	ENSP00000320917:D431N;ENSP00000355366:D427N	ENSP00000320917:D431N	D	-	1	0	KRI1	10529734	0.977000	0.34250	0.934000	0.37439	0.506000	0.33950	2.485000	0.45250	1.231000	0.43661	0.557000	0.71058	GAC		0.637	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008	
SLC44A2	57153	broad.mit.edu	37	19	10742729	10742729	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:10742729C>A	ENST00000335757.5	+	10	1096	c.720C>A	c.(718-720)gtC>gtA	p.V240V	SLC44A2_ENST00000407327.4_Silent_p.V238V|SLC44A2_ENST00000586078.1_Silent_p.V240V			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	240					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.V240V(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GAGGCCTGGTCATTGCCATGG	0.562																																					p.V240V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C720A	19						.						267.0	239.0	249.0					19																	10742729		2203	4300	6503	10603729	SO:0001819	synonymous_variant	57153	exon10			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.720C>A	19.37:g.10742729C>A			10603729	NM_020428	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	CCDS12245.1																																																																																				0.562	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1		
LDLR	3949	broad.mit.edu	37	19	11226825	11226825	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:11226825A>G	ENST00000558518.1	+	11	1829	c.1642A>G	c.(1642-1644)Aat>Gat	p.N548D	LDLR_ENST00000558013.1_Missense_Mutation_p.N548D|LDLR_ENST00000557933.1_Missense_Mutation_p.N548D|LDLR_ENST00000545707.1_Missense_Mutation_p.N421D|LDLR_ENST00000535915.1_Missense_Mutation_p.N507D|LDLR_ENST00000455727.2_Missense_Mutation_p.N380D	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	548					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.N548D(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	AGGGGGCCTGAATGGTGTGGA	0.587																																					p.N427D	GBM(18;201 575 7820 21545)											.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|lung(1)	c.A1279G	19						.						101.0	88.0	93.0					19																	11226825		2203	4300	6503	11087825	SO:0001583	missense	3949	exon10			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1642A>G	19.37:g.11226825A>G	ENSP00000454071:p.Asn548Asp		11087825	NM_001195802	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649039	0.47362	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.91686	-2.89;-2.89;-2.89	5.79	4.78	0.61160	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.56097	U	0.000021	D	0.89280	0.6670	N	0.04880	-0.145	0.53005	D	0.999964	D;B;P;B;B;P	0.64830	0.994;0.158;0.789;0.003;0.088;0.836	D;B;D;B;B;D	0.74023	0.982;0.231;0.95;0.098;0.306;0.951	D	0.86723	0.1943	10	0.24483	T	0.36	.	10.8493	0.46761	0.925:0.0:0.075:0.0	.	380;421;427;507;560;548	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	D	548;421;507;380	ENSP00000437639:N421D;ENSP00000440520:N507D;ENSP00000397829:N380D	ENSP00000252444:N548D	N	+	1	0	LDLR	11087825	1.000000	0.71417	0.978000	0.43139	0.004000	0.04260	8.726000	0.91474	1.023000	0.39654	-0.389000	0.06534	AAT		0.587	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		
ZNF627	199692	broad.mit.edu	37	19	11727838	11727838	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:11727838G>T	ENST00000361113.5	+	4	728	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E174*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						GGAATGTGGAGAAACCTTTAT	0.438																																					p.E174X	Melanoma(112;173 1614 10731 17751 23322)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G520T	19						.						82.0	81.0	81.0					19																	11727838		2134	4263	6397	11588838	SO:0001587	stop_gained	199692	exon4			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.520G>T	19.37:g.11727838G>T	ENSP00000354414:p.Glu174*		11588838	NM_145295	O14846|Q4KMP9|Q6NT81|Q9BRG4	Nonsense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	37	6.085364	0.97271	.	.	ENSG00000198551	ENST00000361113	.	.	.	1.36	0.284	0.15701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.245	0.10667	0.7565:0.0:0.2435:0.0	.	.	.	.	X	174	.	ENSP00000354414:E174X	E	+	1	0	ZNF627	11588838	0.974000	0.33945	0.006000	0.13384	0.941000	0.58515	2.922000	0.48860	0.056000	0.16144	0.313000	0.20887	GAA		0.438	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295	
ZNF627	199692	broad.mit.edu	37	19	11728622	11728622	+	Missense_Mutation	SNP	G	G	A	rs370522446		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:11728622G>A	ENST00000361113.5	+	4	1512	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R435Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACTTACTTTCGAGTACATGAA	0.428																																					p.R435Q	Melanoma(112;173 1614 10731 17751 23322)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1304A	19						.	G	GLN/ARG	0,4394		0,0,2197	54.0	58.0	57.0		1304	-0.9	0.0	19		57	1,8595		0,1,4297	no	missense	ZNF627	NM_145295.3	43	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	435/462	11728622	1,12989	2197	4298	6495	11589622	SO:0001583	missense	199692	exon4			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.1304G>A	19.37:g.11728622G>A	ENSP00000354414:p.Arg435Gln		11589622	NM_145295	O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	ENST00000361113.5	37	CCDS42502.1	.	.	.	.	.	.	.	.	.	.	g	7.962	0.747200	0.15710	0.0	1.16E-4	ENSG00000198551	ENST00000361113	T	0.07444	3.19	1.43	-0.942	0.10398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	N	0.12471	0.22	0.09310	N	1	P	0.46987	0.888	B	0.24155	0.051	T	0.37549	-0.9701	9	0.06099	T	0.92	.	5.5276	0.16967	0.3502:0.0:0.6498:0.0	.	435	Q7L945	ZN627_HUMAN	Q	435	ENSP00000354414:R435Q	ENSP00000354414:R435Q	R	+	2	0	ZNF627	11589622	0.000000	0.05858	0.003000	0.11579	0.843000	0.47879	-1.968000	0.01507	-0.178000	0.10672	0.467000	0.42956	CGA		0.428	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	NM_145295	
ZNF441	126068	broad.mit.edu	37	19	11891955	11891955	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:11891955G>T	ENST00000357901.4	+	4	1418	c.1316G>T	c.(1315-1317)aGa>aTa	p.R439I	ZNF441_ENST00000454339.2_Missense_Mutation_p.R372I	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R439I(1)|p.R372I(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATACATGAAAGAATTCACACT	0.378																																					p.R439I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1316T	19						.						42.0	44.0	43.0					19																	11891955		2203	4300	6503	11752955	SO:0001583	missense	126068	exon4			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1316G>T	19.37:g.11891955G>T	ENSP00000350576:p.Arg439Ile		11752955	NM_152355		Missense_Mutation	SNP	ENST00000357901.4	37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	19.75	3.885121	0.72410	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.24908	1.83;1.83	1.22	0.146	0.14833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45716	0.1356	M	0.77103	2.36	0.30045	N	0.812231	D	0.89917	1.0	D	0.77557	0.99	T	0.41124	-0.9526	9	0.66056	D	0.02	.	6.6524	0.22969	0.1775:0.0:0.8225:0.0	.	439	Q8N8Z8	ZN441_HUMAN	I	395;439;372	ENSP00000350576:R439I;ENSP00000403738:R372I	ENSP00000350576:R439I	R	+	2	0	ZNF441	11752955	0.000000	0.05858	0.001000	0.08648	0.900000	0.52787	-0.188000	0.09642	0.083000	0.17047	0.305000	0.20034	AGA		0.378	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355	
ZNF441	126068	broad.mit.edu	37	19	11892194	11892194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:11892194C>T	ENST00000357901.4	+	4	1657	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	ZNF441_ENST00000454339.2_Nonsense_Mutation_p.R452*	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R519*(1)|p.R452*(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGTTCATTTCGAAGACATGA	0.403																																					p.R519X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1555T	19						.						68.0	69.0	69.0					19																	11892194		2203	4299	6502	11753194	SO:0001587	stop_gained	126068	exon4			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1555C>T	19.37:g.11892194C>T	ENSP00000350576:p.Arg519*		11753194	NM_152355		Nonsense_Mutation	SNP	ENST00000357901.4	37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	38	6.812224	0.97857	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	.	.	.	1.22	-2.44	0.06502	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	1.5458	0.02565	0.1447:0.2019:0.401:0.2524	.	.	.	.	X	475;519;452	.	ENSP00000350576:R519X	R	+	1	2	ZNF441	11753194	0.000000	0.05858	0.000000	0.03702	0.966000	0.64601	-0.124000	0.10595	-1.821000	0.01213	0.305000	0.20034	CGA		0.403	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355	
ZNF491	126069	broad.mit.edu	37	19	11917796	11917796	+	Missense_Mutation	SNP	G	G	A	rs368005368		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:11917796G>A	ENST00000323169.5	+	3	1359	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R343Q(3)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AAGTACATTCGAATACATGGA	0.433																																					p.R343Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1028A	19						.						63.0	64.0	64.0					19																	11917796		2203	4300	6503	11778796	SO:0001583	missense	126069	exon3			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1028G>A	19.37:g.11917796G>A	ENSP00000313443:p.Arg343Gln		11778796	NM_152356	Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.677593	0.00751	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.15256	2.44	0.874	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	N	0.16201	0.385	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.39272	-0.9622	9	0.17832	T	0.49	.	4.4157	0.11455	0.4713:0.2738:0.2549:0.0	.	343	Q8N8L2	ZN491_HUMAN	Q	343;315	ENSP00000313443:R343Q	ENSP00000313443:R343Q	R	+	2	0	ZNF491	11778796	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.432000	0.01022	-1.558000	0.01690	-1.386000	0.01163	CGA		0.433	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356	
ZNF440	126070	broad.mit.edu	37	19	11942553	11942553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:11942553C>T	ENST00000304060.5	+	4	726	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R188*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCAAGTGTTCGAAGACACAT	0.393																																					p.R188X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C562T	19						.						127.0	129.0	128.0					19																	11942553		2203	4300	6503	11803553	SO:0001587	stop_gained	126070	exon4			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.562C>T	19.37:g.11942553C>T	ENSP00000305373:p.Arg188*		11803553	NM_152357	Q8N1R9	Nonsense_Mutation	SNP	ENST00000304060.5	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	12.86	2.064827	0.36470	.	.	ENSG00000171295	ENST00000304060;ENST00000427505	.	.	.	1.37	-2.74	0.05932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.812	0.05444	0.1654:0.1942:0.4953:0.145	.	.	.	.	X	188;191	.	ENSP00000305373:R188X	R	+	1	2	ZNF440	11803553	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.491000	0.06474	-0.854000	0.04131	0.205000	0.17691	CGA		0.393	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357	
ZNF440	126070	broad.mit.edu	37	19	11943057	11943057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:11943057C>T	ENST00000304060.5	+	4	1230	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q356*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAATTCATTTCAAAGACATGA	0.373																																					p.Q356X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1066T	19						.						38.0	41.0	40.0					19																	11943057		2197	4298	6495	11804057	SO:0001587	stop_gained	126070	exon4			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1066C>T	19.37:g.11943057C>T	ENSP00000305373:p.Gln356*		11804057	NM_152357	Q8N1R9	Nonsense_Mutation	SNP	ENST00000304060.5	37	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	14.93	2.680969	0.47886	.	.	ENSG00000171295	ENST00000304060	.	.	.	1.19	-0.0359	0.13891	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	6.7616	0.23544	0.4754:0.5246:0.0:0.0	.	.	.	.	X	356	.	ENSP00000305373:Q356X	Q	+	1	0	ZNF440	11804057	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.225000	0.09151	0.049000	0.15920	0.205000	0.17691	CAA		0.373	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357	
ZNF700	90592	broad.mit.edu	37	19	12059564	12059564	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12059564G>T	ENST00000254321.5	+	4	868	c.725G>T	c.(724-726)aGa>aTa	p.R242I	ZNF700_ENST00000482090.1_Missense_Mutation_p.R224I|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R242I(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATCCATGAAAGAACTCACACT	0.368																																					p.R242I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725T	19						.						58.0	61.0	60.0					19																	12059564		2203	4300	6503	11920564	SO:0001583	missense	90592	exon4			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.725G>T	19.37:g.12059564G>T	ENSP00000254321:p.Arg242Ile		11920564	NM_144566	B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642875	0.29246	.	.	ENSG00000196757	ENST00000254321	T	0.24908	1.83	0.554	-0.958	0.10347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30665	0.0772	M	0.83692	2.655	0.44316	D	0.997197	P	0.39717	0.684	B	0.41894	0.369	T	0.11542	-1.0583	9	0.51188	T	0.08	.	6.306	0.21139	0.2127:0.0:0.7873:0.0	.	242	Q9H0M5	ZN700_HUMAN	I	242	ENSP00000254321:R242I	ENSP00000254321:R242I	R	+	2	0	ZNF700	11920564	0.000000	0.05858	0.006000	0.13384	0.012000	0.07955	-0.809000	0.04510	-0.397000	0.07691	-0.680000	0.03767	AGA		0.368	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566	
ZNF763	284390	broad.mit.edu	37	19	12089650	12089650	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12089650G>T	ENST00000358987.3	+	4	1038	c.911G>T	c.(910-912)aGa>aTa	p.R304I	ZNF763_ENST00000545530.1_Missense_Mutation_p.R182I|ZNF763_ENST00000343949.5_Missense_Mutation_p.R307I|ZNF763_ENST00000590798.1_Missense_Mutation_p.R324I|ZNF763_ENST00000538752.1_Missense_Mutation_p.R324I			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						ATACATGAAAGAACTCACACT	0.408																																					p.R307I												.	.	0			c.G920T	19						.						54.0	58.0	56.0					19																	12089650		2197	4295	6492	11950650	SO:0001583	missense	284390	exon4			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.911G>T	19.37:g.12089650G>T	ENSP00000402017:p.Arg304Ile		11950650	NM_001012753	B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37		.	.	.	.	.	.	.	.	.	.	t	11.91	1.780008	0.31502	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	1.37	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43942	0.1270	M	0.68952	2.095	0.39944	D	0.974446	B;B;D	0.89917	0.003;0.003;1.0	B;B;D	0.81914	0.002;0.011;0.995	T	0.41270	-0.9518	9	0.52906	T	0.07	.	9.7004	0.40182	0.0:0.0:1.0:0.0	.	324;304;307	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	I	324;307;182;304	ENSP00000438117:R324I;ENSP00000369774:R307I;ENSP00000446166:R182I;ENSP00000402017:R304I	ENSP00000369774:R307I	R	+	2	0	ZNF763	11950650	0.000000	0.05858	0.188000	0.23233	0.221000	0.24807	-2.247000	0.01190	0.735000	0.32537	0.194000	0.17425	AGA		0.408	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753	
ZNF433	163059	broad.mit.edu	37	19	12126117	12126117	+	Missense_Mutation	SNP	C	C	T	rs374344018	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12126117C>T	ENST00000344980.6	-	4	1735	c.1565G>A	c.(1564-1566)cGa>cAa	p.R522Q	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.R487Q|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R522Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCCATGATATCGAAAGGAGCT	0.443													C|||	3	0.000599042	0.0	0.0	5008	,	,		23484	0.0		0.0	False		,,,				2504	0.0031				p.R522Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1565A	19						.	C	GLN/ARG	0,4404		0,0,2202	74.0	79.0	77.0		1565	-2.4	0.0	19		77	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF433	NM_001080411.1	43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	522/674	12126117	1,13001	2202	4299	6501	11987117	SO:0001583	missense	163059	exon4			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1565G>A	19.37:g.12126117C>T	ENSP00000339767:p.Arg522Gln		11987117	NM_001080411	Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	C	6.378	0.437779	0.12104	0.0	1.16E-4	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.20598	2.06;2.06	1.18	-2.37	0.06643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	L	0.28556	0.865	0.09310	N	1	D	0.56746	0.977	B	0.33890	0.172	T	0.31251	-0.9950	9	0.12430	T	0.62	.	0.6782	0.00870	0.1703:0.2705:0.1697:0.3895	.	522	Q8N7K0	ZN433_HUMAN	Q	487;522	ENSP00000393416:R487Q;ENSP00000339767:R522Q	ENSP00000339767:R522Q	R	-	2	0	ZNF433	11987117	0.000000	0.05858	0.000000	0.03702	0.534000	0.34807	-2.802000	0.00760	-1.206000	0.02641	0.298000	0.19748	CGA		0.443	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602	
ZNF878	729747	broad.mit.edu	37	19	12154704	12154704	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12154704C>A	ENST00000547628.1	-	4	1649	c.1512G>T	c.(1510-1512)gaG>gaT	p.E504D	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.E551D|CTD-2006C1.2_ENST00000591898.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATAGGGTTTCTCTCCAGTAT	0.418																																					p.E551D												.	.	0			c.G1653T	19						.						61.0	70.0	67.0					19																	12154704		2196	4294	6490	12015704	SO:0001583	missense	729747	exon5				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1512G>T	19.37:g.12154704C>A	ENSP00000447931:p.Glu504Asp		12015704	NM_001080404		Missense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753173	0.69648	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.26810	1.71	1.3	1.3	0.21679	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30885	0.0779	L	0.48986	1.54	0.32548	N	0.532745	D	0.57571	0.98	P	0.53861	0.736	T	0.43734	-0.9373	9	0.72032	D	0.01	.	5.4263	0.16427	0.0:0.7947:0.0:0.2053	.	504	C9JN71	ZN878_HUMAN	D	504;551	ENSP00000447931:E504D	ENSP00000447931:E504D	E	-	3	2	AC022415.4;ZNF878	12015704	0.799000	0.28903	0.093000	0.20910	0.744000	0.42396	0.977000	0.29475	0.675000	0.31264	0.313000	0.20887	GAG		0.418	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404	
ZNF44	51710	broad.mit.edu	37	19	12384807	12384807	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12384807C>T	ENST00000356109.5	-	5	525	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	ZNF44_ENST00000355684.5_Missense_Mutation_p.R88Q	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	136	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		AATACTATTTCGAATCTGGCT	0.388																																					p.R88Q												.	.	0			c.G263A	19						.						194.0	200.0	198.0					19																	12384807		2092	4214	6306	12245807	SO:0001583	missense	51710	exon4			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.407G>A	19.37:g.12384807C>T	ENSP00000348419:p.Arg136Gln		12245807	NM_016264	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	3.999	-0.002954	0.07773	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.06768	3.3;3.26;3.31	1.28	-0.767	0.11016	Krueppel-associated box (1);	.	.	.	.	T	0.03136	0.0092	N	0.03608	-0.345	.	.	.	B;B	0.24823	0.024;0.112	B;B	0.12156	0.002;0.007	T	0.42189	-0.9466	8	0.27785	T	0.31	.	7.5486	0.27781	0.0:0.4724:0.5276:0.0	.	136;88	P15621;F8W7T7	ZNF44_HUMAN;.	Q	136;136;88;88	ENSP00000377008:R136Q;ENSP00000348419:R136Q;ENSP00000347910:R88Q	ENSP00000347910:R88Q	R	-	2	0	ZNF44	12245807	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	0.083000	0.14871	-0.080000	0.12685	0.313000	0.20887	CGA		0.388	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264	
ZNF563	147837	broad.mit.edu	37	19	12429529	12429529	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12429529C>T	ENST00000293725.5	-	4	1515	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R437Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CATATGTCTTCGAAAGCTTGA	0.423																																					p.R437Q	GBM(39;623 795 5132 29510 31476)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1310A	19						.						199.0	183.0	189.0					19																	12429529		2203	4300	6503	12290529	SO:0001583	missense	147837	exon4			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1310G>A	19.37:g.12429529C>T	ENSP00000293725:p.Arg437Gln		12290529	NM_145276	B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	1.692	-0.503654	0.04261	.	.	ENSG00000188868	ENST00000293725	T	0.07444	3.19	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.25031	0.7	0.09310	N	1	B	0.28208	0.203	B	0.17098	0.017	T	0.44065	-0.9352	9	0.07990	T	0.79	.	4.4031	0.11397	0.0:0.6994:0.0:0.3006	.	437	Q8TA94	ZN563_HUMAN	Q	437	ENSP00000293725:R437Q	ENSP00000293725:R437Q	R	-	2	0	ZNF563	12290529	0.000000	0.05858	0.082000	0.20525	0.151000	0.21798	-2.670000	0.00844	0.308000	0.22923	0.313000	0.20887	CGA		0.423	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
ZNF442	79973	broad.mit.edu	37	19	12460717	12460717	+	Missense_Mutation	SNP	C	C	T	rs189678282		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12460717C>T	ENST00000242804.4	-	6	2264	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	ZNF442_ENST00000438182.1_Missense_Mutation_p.R492Q|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R561Q(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCTTTCATGTCGCAGAAGGCA	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21939	0.0		0.0	False		,,,				2504	0.0				p.R561Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1682A	19						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	92.0	94.0		1682	-1.6	0.0	19		94	0,8600		0,0,4300	no	missense	ZNF442	NM_030824.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	561/628	12460717	1,13005	2203	4300	6503	12321717	SO:0001583	missense	79973	exon6			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1682G>A	19.37:g.12460717C>T	ENSP00000242804:p.Arg561Gln		12321717	NM_030824	B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	CCDS12271.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.810	0.150639	0.09185	2.27E-4	0.0	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.26223	1.75;1.75	0.792	-1.58	0.08479	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30103	0.0754	L	0.47078	1.49	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.22034	-1.0228	9	0.12766	T	0.61	.	2.9891	0.05978	0.2553:0.5393:0.0:0.2054	.	561	Q9H7R0	ZN442_HUMAN	Q	561;492	ENSP00000242804:R561Q;ENSP00000388634:R492Q	ENSP00000242804:R561Q	R	-	2	0	ZNF442	12321717	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-8.594000	0.00019	-0.796000	0.04456	0.306000	0.20318	CGA		0.403	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824	
ZNF443	10224	broad.mit.edu	37	19	12542084	12542084	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12542084C>A	ENST00000301547.5	-	4	1099	c.902G>T	c.(901-903)aGa>aTa	p.R301I	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	301					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R301I(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AGTGTGAGTTCTTTCATGTAT	0.408																																					p.R301I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G902T	19						.						115.0	116.0	116.0					19																	12542084		2203	4298	6501	12403084	SO:0001583	missense	10224	exon4			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.902G>T	19.37:g.12542084C>A	ENSP00000301547:p.Arg301Ile		12403084	NM_005815		Missense_Mutation	SNP	ENST00000301547.5	37	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797254	0.70567	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.24908	1.83	1.26	0.148	0.14843	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37598	0.1009	L	0.49455	1.56	0.40121	D	0.976602	D	0.89917	1.0	D	0.79108	0.992	T	0.17137	-1.0379	9	0.52906	T	0.07	.	6.9018	0.24286	0.0:0.8278:0.0:0.1722	.	301	Q9Y2A4	ZN443_HUMAN	I	301	ENSP00000301547:R301I	ENSP00000301547:R301I	R	-	2	0	ZNF443	12403084	0.000000	0.05858	0.031000	0.17742	0.831000	0.47069	-1.207000	0.03008	0.106000	0.17784	0.461000	0.40582	AGA		0.408	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815	
ZNF709	163051	broad.mit.edu	37	19	12574841	12574841	+	Missense_Mutation	SNP	C	C	T	rs199608463	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12574841C>T	ENST00000397732.3	-	4	2066	c.1895G>A	c.(1894-1896)cGa>cAa	p.R632Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.R632Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R632Q(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGTATTCGAAAGGAACG	0.368													C|||	3	0.000599042	0.0008	0.0	5008	,	,		23061	0.002		0.0	False		,,,				2504	0.0				p.R632Q	GBM(33;565 669 12371 29134 51667)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1895A	19						.	C	GLN/ARG	0,4382		0,0,2191	133.0	144.0	140.0		1895	-4.7	0.0	19		140	1,8589	1.2+/-3.3	0,1,4294	yes	missense	ZNF709	NM_152601.3	43	0,1,6485	TT,TC,CC		0.0116,0.0,0.0077	benign	632/642	12574841	1,12971	2191	4295	6486	12435841	SO:0001583	missense	163051	exon4			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1895G>A	19.37:g.12574841C>T	ENSP00000380840:p.Arg632Gln		12435841	NM_152601	A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.377	0.627921	0.14257	0.0	1.16E-4	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.07444	3.19;3.19	2.51	-4.72	0.03269	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02193	0.0068	N	0.02802	-0.49	0.09310	N	1	B	0.31009	0.303	B	0.11329	0.006	T	0.46527	-0.9185	9	0.16420	T	0.52	.	5.6658	0.17695	0.1307:0.3068:0.0:0.5625	.	632	Q8N972	ZN709_HUMAN	Q	632	ENSP00000380840:R632Q;ENSP00000404127:R632Q	ENSP00000404127:R632Q	R	-	2	0	ZNF709;CTD-2192J16.17	12435841	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.117000	0.03283	-1.187000	0.02709	-0.150000	0.13652	CGA		0.368	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF709	163051	broad.mit.edu	37	19	12575430	12575430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12575430G>A	ENST00000397732.3	-	4	1477	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Nonsense_Mutation_p.R436*	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R436G(1)|p.R436*(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCATGTATTCGAACAGAACTG	0.408																																					p.R436X	GBM(33;565 669 12371 29134 51667)											.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.C1306T	19						.						110.0	116.0	114.0					19																	12575430		2203	4299	6502	12436430	SO:0001587	stop_gained	163051	exon4			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1306C>T	19.37:g.12575430G>A	ENSP00000380840:p.Arg436*		12436430	NM_152601	A8K4E6	Nonsense_Mutation	SNP	ENST00000397732.3	37	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	38	6.652241	0.97734	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	.	.	.	3.05	2.01	0.26516	.	0.308092	0.17848	N	0.159967	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	2.6218	0.04918	0.2518:0.0:0.5154:0.2327	.	.	.	.	X	436	.	ENSP00000404127:R436X	R	-	1	2	ZNF709;CTD-2192J16.17	12436430	0.000000	0.05858	0.010000	0.14722	0.983000	0.72400	-3.437000	0.00471	0.868000	0.35678	0.591000	0.81541	CGA		0.408	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF564	163050	broad.mit.edu	37	19	12637295	12637295	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12637295T>C	ENST00000339282.7	-	4	1823	c.1627A>G	c.(1627-1629)Atc>Gtc	p.I543V	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I543V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTTGTGTGATAAATGAAAGC	0.358																																					p.I543V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1627G	19						.						93.0	94.0	94.0					19																	12637295		2039	4214	6253	12498295	SO:0001583	missense	163050	exon4			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1627A>G	19.37:g.12637295T>C	ENSP00000340004:p.Ile543Val		12498295	NM_144976	B9EGT4|Q6P1K6	Missense_Mutation	SNP	ENST00000339282.7	37	CCDS42505.1	.	.	.	.	.	.	.	.	.	.	T	5.629	0.300754	0.10678	.	.	ENSG00000249709	ENST00000339282	T	0.06849	3.25	1.71	-3.24	0.05094	.	.	.	.	.	T	0.04497	0.0123	N	0.25789	0.76	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.45542	-0.9254	9	0.17369	T	0.5	.	4.6161	0.12427	0.0:0.1955:0.4361:0.3684	.	543	Q8TBZ8	ZN564_HUMAN	V	543	ENSP00000340004:I543V	ENSP00000340004:I543V	I	-	1	0	ZNF564	12498295	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.539000	0.06113	-1.067000	0.03160	0.523000	0.50628	ATC		0.358	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
ZNF490	57474	broad.mit.edu	37	19	12692248	12692248	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12692248C>T	ENST00000311437.6	-	5	763	c.641G>A	c.(640-642)aGa>aAa	p.R214K	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R214K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTGTGAATTCTTTCATGGGT	0.413																																					p.R214K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G641A	19						.						122.0	105.0	111.0					19																	12692248		2203	4300	6503	12553248	SO:0001583	missense	57474	exon5			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.641G>A	19.37:g.12692248C>T	ENSP00000311521:p.Arg214Lys		12553248	NM_020714		Missense_Mutation	SNP	ENST00000311437.6	37	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623974	0.28889	.	.	ENSG00000188033	ENST00000311437	T	0.18338	2.22	1.13	0.0493	0.14289	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15305	0.0369	L	0.45051	1.395	0.09310	N	1	B	0.19445	0.036	B	0.29942	0.109	T	0.34925	-0.9809	9	0.49607	T	0.09	.	6.6508	0.22961	0.0:0.8209:0.0:0.1791	.	214	Q9ULM2	ZN490_HUMAN	K	214	ENSP00000311521:R214K	ENSP00000311521:R214K	R	-	2	0	ZNF490	12553248	0.000000	0.05858	0.005000	0.12908	0.100000	0.18952	-0.011000	0.12721	0.055000	0.16094	0.591000	0.81541	AGA		0.413	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714	
BEST2	54831	broad.mit.edu	37	19	12865712	12865712	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12865712G>A	ENST00000549706.1	+	5	827	c.503G>A	c.(502-504)cGc>cAc	p.R168H	BEST2_ENST00000553030.1_Missense_Mutation_p.R168H|BEST2_ENST00000042931.1_Missense_Mutation_p.R168H			Q8NFU1	BEST2_HUMAN	bestrophin 2	168					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R168H(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CGCGAGGAGCGCAAGAAGTTT	0.627																																					p.R168H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G503A	19						.						40.0	47.0	45.0					19																	12865712		2129	4265	6394	12726712	SO:0001583	missense	54831	exon4			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.503G>A	19.37:g.12865712G>A	ENSP00000448310:p.Arg168His		12726712	NM_017682	Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706251	0.48412	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98567	-5.0;-5.0;-5.0	3.98	3.98	0.46160	.	0.000000	0.64402	D	0.000003	D	0.94331	0.8178	N	0.20610	0.595	0.45284	D	0.998289	B	0.32526	0.374	B	0.29862	0.108	D	0.93547	0.6883	10	0.19147	T	0.46	-20.2272	15.1831	0.72975	0.0:0.0:1.0:0.0	.	168	Q8NFU1	BEST2_HUMAN	H	168	ENSP00000448310:R168H;ENSP00000447203:R168H;ENSP00000042931:R168H	ENSP00000042931:R168H	R	+	2	0	BEST2	12726712	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.485000	0.60279	1.927000	0.55829	0.462000	0.41574	CGC		0.627	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682	
MAST1	22983	broad.mit.edu	37	19	12969202	12969202	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:12969202G>A	ENST00000251472.4	+	11	1143	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	MAST1_ENST00000591495.1_Silent_p.P364P	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.P368P(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAAGAAACCGCCGGGGGAGA	0.567																																					p.P368P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1104A	19						.						114.0	125.0	121.0					19																	12969202		2203	4300	6503	12830202	SO:0001819	synonymous_variant	22983	exon11			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1104G>A	19.37:g.12969202G>A			12830202	NM_014975		Silent	SNP	ENST00000251472.4	37	CCDS32921.1																																																																																				0.567	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	
TRMT1	55621	broad.mit.edu	37	19	13226990	13226990	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:13226990T>G	ENST00000592062.1	-	3	794	c.224A>C	c.(223-225)aAc>aCc	p.N75T	TRMT1_ENST00000357720.4_Missense_Mutation_p.N75T|TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000221504.8_Missense_Mutation_p.N75T|TRMT1_ENST00000437766.1_Missense_Mutation_p.N75T|NACC1_ENST00000292431.4_5'Flank			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	75	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.N75T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CTGCACCGGGTTATAAAAGAC	0.597																																					p.N75T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A224C	19						.						70.0	73.0	72.0					19																	13226990		2203	4300	6503	13087990	SO:0001583	missense	55621	exon1			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.224A>C	19.37:g.13226990T>G	ENSP00000466967:p.Asn75Thr		13087990	NM_017722	O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	T	32	5.171791	0.94807	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.85362	0.5679	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88682	0.3203	9	0.87932	D	0	-36.9894	12.1435	0.54010	0.0:0.0:0.0:1.0	.	75;75	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	T	75	.	ENSP00000221504:N75T	N	-	2	0	TRMT1	13087990	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.216000	0.77974	2.131000	0.65755	0.533000	0.62120	AAC		0.597	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722	
CACNA1A	773	broad.mit.edu	37	19	13365981	13365981	+	Silent	SNP	G	G	A	rs377082780		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:13365981G>A	ENST00000360228.5	-	29	4682	c.4683C>T	c.(4681-4683)ttC>ttT	p.F1561F	CACNA1A_ENST00000573710.2_Silent_p.F1562F|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1562					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.F1562F(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGACACCACGAACTGCCACA	0.587																																					p.F1562F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C4686T	19						.	G	,,,,	0,4300		0,0,2150	84.0	94.0	91.0		4695,4686,4683,4686,4695	-0.2	1.0	19		91	1,8513		0,1,4256	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1A	NM_000068.3,NM_001127221.1,NM_001127222.1,NM_001174080.1,NM_023035.2	,,,,	0,1,6406	AA,AG,GG		0.0117,0.0,0.0078	,,,,	1565/2267,1562/2262,1561/2507,1562/2264,1565/2513	13365981	1,12813	2150	4257	6407	13226981	SO:0001819	synonymous_variant	773	exon29			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4683C>T	19.37:g.13365981G>A			13226981	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.587	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
CACNA1A	773	broad.mit.edu	37	19	13563744	13563744	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:13563744C>T	ENST00000360228.5	-	3	484	c.485G>A	c.(484-486)gGc>gAc	p.G162D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G162D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	162					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.G162D(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAAGTAGGAGCCTTTGTGGAA	0.458																																					p.G162D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G485A	19						.						180.0	175.0	176.0					19																	13563744		2003	4174	6177	13424744	SO:0001583	missense	773	exon3			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.485G>A	19.37:g.13563744C>T	ENSP00000353362:p.Gly162Asp		13424744	NM_001174080	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723366	0.48728	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98437	-4.93	5.74	5.74	0.90152	Ion transport (1);	0.420009	0.23424	N	0.048322	D	0.97929	0.9319	L	0.52823	1.66	0.48185	D	0.999601	P;P	0.52692	0.955;0.955	P;P	0.51324	0.666;0.666	D	0.98829	1.0750	10	0.87932	D	0	.	18.6833	0.91554	0.0:1.0:0.0:0.0	.	162;162	O00555;Q9NS88	CAC1A_HUMAN;.	D	162	ENSP00000353362:G162D	ENSP00000317661:G162D	G	-	2	0	CACNA1A	13424744	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.542000	0.45744	2.710000	0.92621	0.643000	0.83706	GGC		0.458	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
LPHN1	22859	broad.mit.edu	37	19	14263675	14263675	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:14263675C>T	ENST00000340736.6	-	20	3656	c.3359G>A	c.(3358-3360)cGc>cAc	p.R1120H	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.R1115H	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1120					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTGGGGAGCGGATGCAGCA	0.622																																					p.R1115H												.	.	0			c.G3344A	19						.						144.0	126.0	132.0					19																	14263675		2203	4300	6503	14124675	SO:0001583	missense	22859	exon19			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3359G>A	19.37:g.14263675C>T	ENSP00000340688:p.Arg1120His		14124675	NM_014921	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296384	0.60086	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.38401	1.14;1.14	5.26	5.26	0.73747	GPCR, family 2, latrophilin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.29908	0.895	0.48901	D	0.999727	B;P	0.35542	0.407;0.508	B;B	0.34038	0.165;0.174	T	0.09378	-1.0677	10	0.49607	T	0.09	.	16.355	0.83232	0.0:1.0:0.0:0.0	.	1115;1120	O94910-2;O94910	.;LPHN1_HUMAN	H	1120;1115	ENSP00000340688:R1120H;ENSP00000355328:R1115H	ENSP00000340688:R1120H	R	-	2	0	LPHN1	14124675	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.841000	0.62824	2.460000	0.83146	0.561000	0.74099	CGC		0.622	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921	
EMR3	84658	broad.mit.edu	37	19	14761920	14761921	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	TC	TC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:14761920_14761921TC>AT	ENST00000253673.5	-	7	773_774	c.673_674GA>AT	c.(673-675)GAc>ATc	p.D225I	EMR3_ENST00000443157.2_Missense_Mutation_p.D99I|EMR3_ENST00000599900.1_Missense_Mutation_p.D10I|EMR3_ENST00000344373.4_Missense_Mutation_p.D173I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	225					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D225>?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTGGATGATGTCACTGCAACGG	0.45																																					.												.	.	1	Complex(1)	large_intestine(1)	c.673_674AT	19						.																																			14622921	SO:0001583	missense	84658	exon7			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.673_674delinsAT	19.37:g.14761920_14761921delinsAT	ENSP00000253673:p.Asp225Ile		14622920	NM_032571		Missense_Mutation	DNP	ENST00000253673.5	37	CCDS12315.1																																																																																				0.450	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
EMR3	84658	broad.mit.edu	37	19	14772866	14772866	+	Silent	SNP	G	G	A	rs150826128		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:14772866G>A	ENST00000253673.5	-	4	364	c.264C>T	c.(262-264)gtC>gtT	p.V88V	EMR3_ENST00000443157.2_Intron|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Intron	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	88	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V88V(4)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AACTTCCTTCGACATTGTAAC	0.393																																					p.V88V												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C264T	19						.	G		1,4405	2.1+/-5.4	0,1,2202	197.0	165.0	176.0		264	-8.2	0.0	19	dbSNP_134	176	0,8600		0,0,4300	no	coding-synonymous	EMR3	NM_032571.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		88/653	14772866	1,13005	2203	4300	6503	14633866	SO:0001819	synonymous_variant	84658	exon4			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.264C>T	19.37:g.14772866G>A			14633866	NM_032571		Silent	SNP	ENST00000253673.5	37	CCDS12315.1																																																																																				0.393	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
OR7A17	26333	broad.mit.edu	37	19	14991525	14991525	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:14991525G>T	ENST00000327462.2	-	1	739	c.643C>A	c.(643-645)Ctt>Att	p.L215I		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L215I(1)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TAAGAGCAAAGGATCCCCACA	0.488																																					p.L215I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C643A	19						.						76.0	75.0	75.0					19																	14991525		2203	4300	6503	14852525	SO:0001583	missense	26333	exon1			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.643C>A	19.37:g.14991525G>T	ENSP00000328144:p.Leu215Ile		14852525	NM_030901	Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	g	13.38	2.218963	0.39201	.	.	ENSG00000185385	ENST00000327462	T	0.00235	8.48	3.14	-2.39	0.06602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34555	U	0.003864	T	0.00210	0.0006	L	0.45581	1.43	0.09310	N	1	B	0.31503	0.326	P	0.46452	0.517	T	0.37663	-0.9696	10	0.36615	T	0.2	.	5.6077	0.17389	0.1093:0.0:0.5336:0.3572	.	215	O14581	OR7AH_HUMAN	I	215	ENSP00000328144:L215I	ENSP00000328144:L215I	L	-	1	0	OR7A17	14852525	0.000000	0.05858	0.004000	0.12327	0.234000	0.25298	-0.802000	0.04545	-0.441000	0.07201	0.454000	0.30748	CTT		0.488	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901	
CCDC105	126402	broad.mit.edu	37	19	15124536	15124536	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:15124536G>A	ENST00000292574.3	+	2	705	c.623G>A	c.(622-624)aGc>aAc	p.S208N		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	208						extracellular vesicular exosome (GO:0070062)		p.S208N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAGCTGAAAAGCATGAAGAGG	0.498																																					p.S208N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	19						.						73.0	66.0	68.0					19																	15124536		2203	4300	6503	14985536	SO:0001583	missense	126402	exon2			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.623G>A	19.37:g.15124536G>A	ENSP00000292574:p.Ser208Asn		14985536	NM_173482	Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803812	0.16467	.	.	ENSG00000160994	ENST00000292574	T	0.02421	4.3	3.82	-7.64	0.01286	.	1.328380	0.05193	N	0.503436	T	0.03178	0.0093	L	0.57536	1.79	0.09310	N	1	P	0.34587	0.458	B	0.34824	0.19	T	0.39643	-0.9604	10	0.21014	T	0.42	-0.5675	7.0237	0.24928	0.3956:0.443:0.1614:0.0	.	208	Q8IYK2	CC105_HUMAN	N	208	ENSP00000292574:S208N	ENSP00000292574:S208N	S	+	2	0	CCDC105	14985536	0.000000	0.05858	0.004000	0.12327	0.640000	0.38277	-0.926000	0.03988	-0.857000	0.04115	-0.339000	0.08088	AGC		0.498	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482	
CYP4F8	11283	broad.mit.edu	37	19	15733149	15733149	+	RNA	SNP	G	G	A	rs145108489	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:15733149G>A	ENST00000441682.2	+	0	707							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.E215K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CAATTGTCAGGAGTGAGTTCT	0.552																																					p.R215R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G645A	19						.						60.0	59.0	59.0					19																	15733149		2202	4300	6502	15594149			11283	exon6			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15733149G>A			15594149	NM_007253		Missense_Mutation	SNP	ENST00000441682.2	37		.	.	.	.	.	.	.	.	.	.	.	7.158	0.585176	0.13749	.	.	ENSG00000186526	ENST00000441682;ENST00000443973	.	.	.	2.87	2.87	0.33458	.	0.257624	0.29932	U	0.010828	T	0.50837	0.1639	.	.	.	.	.	.	B	0.26935	0.164	B	0.33690	0.168	T	0.64402	-0.6416	7	0.51188	T	0.08	.	11.5249	0.50573	0.0:0.0:1.0:0.0	.	216	P98187	CP4F8_HUMAN	K	215;65	.	ENSP00000409702:E215K	E	+	1	0	CYP4F8	15594149	1.000000	0.71417	0.978000	0.43139	0.105000	0.19272	2.145000	0.42207	1.607000	0.50170	0.411000	0.27672	GAG		0.552	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253	
OR10H1	26539	broad.mit.edu	37	19	15918499	15918499	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:15918499C>T	ENST00000334920.2	-	1	437	c.349G>A	c.(349-351)Gtc>Atc	p.V117I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TAGCCCATGACGGTGAGCAGG	0.657																																					p.V117I												.	.	0			c.G349A	19						.						36.0	33.0	34.0					19																	15918499		2203	4293	6496	15779499	SO:0001583	missense	26539	exon1			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.349G>A	19.37:g.15918499C>T	ENSP00000335596:p.Val117Ile		15779499	NM_013940	Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	12.21	1.870508	0.33069	.	.	ENSG00000186723	ENST00000334920	T	0.01347	4.99	4.71	1.41	0.22369	GPCR, rhodopsin-like superfamily (1);	0.479872	0.17562	N	0.169775	T	0.01695	0.0054	L	0.51914	1.62	0.19575	N	0.999961	B	0.19073	0.033	B	0.15870	0.014	T	0.42565	-0.9444	10	0.34782	T	0.22	.	7.7425	0.28849	0.0:0.7144:0.0:0.2856	.	117	Q9Y4A9	O10H1_HUMAN	I	117	ENSP00000335596:V117I	ENSP00000335596:V117I	V	-	1	0	OR10H1	15779499	0.000000	0.05858	0.670000	0.29842	0.822000	0.46500	1.296000	0.33389	0.422000	0.26005	0.643000	0.83706	GTC		0.657	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1		
CYP4F2	8529	broad.mit.edu	37	19	15990700	15990700	+	Missense_Mutation	SNP	G	G	T	rs371898841		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:15990700G>T	ENST00000221700.6	-	10	1218	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.L375M(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAATGGGCCAGGTCGTCCCTA	0.562																																					p.L375M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1123A	19						.						98.0	102.0	100.0					19																	15990700		2203	4300	6503	15851700	SO:0001583	missense	8529	exon10			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1123C>A	19.37:g.15990700G>T	ENSP00000221700:p.Leu375Met		15851700	NM_001082		Missense_Mutation	SNP	ENST00000221700.6	37	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	N	9.590	1.125869	0.20959	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.72505	-0.66	2.78	0.325	0.15903	.	0.000000	0.49305	U	0.000142	T	0.81361	0.4806	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78316	-0.2251	10	0.87932	D	0	.	7.8763	0.29595	0.3511:0.0:0.6489:0.0	.	375	P78329	CP4F2_HUMAN	M	375;226	ENSP00000221700:L375M	ENSP00000221700:L375M	L	-	1	2	CYP4F2	15851700	1.000000	0.71417	0.978000	0.43139	0.210000	0.24377	2.225000	0.42954	-0.273000	0.09246	-1.579000	0.00862	CTG		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	
CYP4F11	57834	broad.mit.edu	37	19	16032917	16032917	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:16032917C>T	ENST00000402119.4	-	8	1471	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	CYP4F11_ENST00000326742.8_Missense_Mutation_p.E349K|CYP4F11_ENST00000248041.8_Missense_Mutation_p.E349K|CYP4F11_ENST00000591841.1_Missense_Mutation_p.E24K	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.E349K(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCCTGGTATTCTGGGTGCTTT	0.542																																					p.E349K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1045A	19						.						120.0	101.0	107.0					19																	16032917		2203	4300	6503	15893917	SO:0001583	missense	57834	exon9			AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1045G>A	19.37:g.16032917C>T	ENSP00000384588:p.Glu349Lys		15893917	NM_001128932		Missense_Mutation	SNP	ENST00000402119.4	37	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	14.07	2.426530	0.43020	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;T	0.81659	-1.52;-1.52;-0.65	2.77	2.77	0.32553	.	0.164261	0.38217	U	0.001778	T	0.81702	0.4878	M	0.68952	2.095	0.44373	D	0.997272	B;B	0.28850	0.103;0.225	B;B	0.41202	0.331;0.35	T	0.82778	-0.0289	10	0.62326	D	0.03	.	11.2762	0.49168	0.0:1.0:0.0:0.0	.	349;349	F8W978;Q9HBI6	.;CP4FB_HUMAN	K	349	ENSP00000384588:E349K;ENSP00000248041:E349K;ENSP00000319859:E349K	ENSP00000248041:E349K	E	-	1	0	CYP4F11	15893917	0.339000	0.24784	0.984000	0.44739	0.190000	0.23558	0.802000	0.27069	1.531000	0.49152	0.484000	0.47621	GAA		0.542	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187	
C19orf44	84167	broad.mit.edu	37	19	16614191	16614191	+	Splice_Site	SNP	G	G	A	rs147838234		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:16614191G>A	ENST00000221671.3	+	3	1231	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Splice_Site_p.E359K	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	359										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CAGCCTCGACGGTAATCCCAG	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17876	0.0		0.0	False		,,,				2504	0.0				p.E359K												.	.	0			c.G1075A	19						.	G	LYS/GLU	4,4402	8.1+/-20.4	0,4,2199	52.0	48.0	49.0		1075	4.5	0.6	19	dbSNP_134	49	0,8600		0,0,4300	no	missense-near-splice	C19orf44	NM_032207.2	56	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	359/658	16614191	4,13002	2203	4300	6503	16475191	SO:0001630	splice_region_variant	84167	exon3			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1075+1G>A	19.37:g.16614191G>A			16475191	NM_032207	Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348669	0.41599	9.08E-4	0.0	ENSG00000105072	ENST00000221671	.	.	.	4.51	4.51	0.55191	.	0.319944	0.27932	N	0.017272	T	0.27798	0.0684	N	0.22421	0.69	0.31746	N	0.635166	B;B;P	0.36660	0.281;0.281;0.564	B;B;B	0.31016	0.063;0.029;0.123	T	0.44345	-0.9334	9	0.72032	D	0.01	-12.9193	12.7429	0.57264	0.0:0.0:1.0:0.0	.	359;32;359	Q9H6X5;B4DN63;Q9H6X5-2	CS044_HUMAN;.;.	K	359	.	ENSP00000221671:E359K	E	+	1	0	C19orf44	16475191	0.992000	0.36948	0.585000	0.28666	0.283000	0.27025	2.678000	0.46900	2.075000	0.62263	0.655000	0.94253	GAG		0.587	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207	Missense_Mutation
NWD1	284434	broad.mit.edu	37	19	16860349	16860349	+	Missense_Mutation	SNP	G	G	A	rs61737596		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:16860349G>A	ENST00000552788.1	+	4	896	c.896G>A	c.(895-897)cGc>cAc	p.R299H	NWD1_ENST00000524140.2_Missense_Mutation_p.R299H|NWD1_ENST00000523826.1_Missense_Mutation_p.R93H|NWD1_ENST00000379808.3_Missense_Mutation_p.R299H|NWD1_ENST00000339803.6_Missense_Mutation_p.R164H|NWD1_ENST00000549814.1_Missense_Mutation_p.R299H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	299							ATP binding (GO:0005524)	p.R299H(1)|p.R164H(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGAGATCCGCCACCACCTT	0.622																																					p.R299H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G896A	19						.						46.0	45.0	45.0					19																	16860349		2203	4300	6503	16721349	SO:0001583	missense	284434	exon6			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.896G>A	19.37:g.16860349G>A	ENSP00000447224:p.Arg299His		16721349	NM_001007525	C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	g	9.960	1.222466	0.22457	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57107	0.42;0.48;0.42;0.45;0.48;0.5	4.36	2.14	0.27477	.	0.682462	0.14335	N	0.326092	T	0.47600	0.1454	N	0.17082	0.46	0.26766	N	0.969903	D;B;P	0.71674	0.998;0.14;0.453	P;B;B	0.62014	0.897;0.029;0.048	T	0.25916	-1.0118	10	0.56958	D	0.05	-24.1853	4.5935	0.12319	0.2053:0.0:0.6172:0.1774	rs61737596	299;299;164	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	164;299;299;299;93;299;164	ENSP00000428579:R299H;ENSP00000447548:R299H;ENSP00000369136:R299H;ENSP00000428955:R93H;ENSP00000447224:R299H;ENSP00000340159:R164H	ENSP00000340159:R164H	R	+	2	0	NWD1	16721349	0.012000	0.17670	1.000000	0.80357	0.901000	0.52897	0.178000	0.16820	0.952000	0.37798	0.643000	0.83706	CGC		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
NWD1	284434	broad.mit.edu	37	19	16883957	16883957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:16883957G>T	ENST00000552788.1	+	9	2431	c.2431G>T	c.(2431-2433)Gaa>Taa	p.E811*	NWD1_ENST00000524140.2_Nonsense_Mutation_p.E811*|NWD1_ENST00000523826.1_Nonsense_Mutation_p.E605*|NWD1_ENST00000379808.3_Nonsense_Mutation_p.E811*|NWD1_ENST00000339803.6_Nonsense_Mutation_p.E676*|NWD1_ENST00000549814.1_Nonsense_Mutation_p.E811*			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	811							ATP binding (GO:0005524)	p.E676*(1)|p.E811*(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTGTACACAGAACTGCTGGC	0.572																																					p.E811X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2431T	19						.						78.0	77.0	77.0					19																	16883957		2203	4300	6503	16744957	SO:0001587	stop_gained	284434	exon11			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2431G>T	19.37:g.16883957G>T	ENSP00000447224:p.Glu811*		16744957	NM_001007525	C9J021|Q68CT3	Nonsense_Mutation	SNP	ENST00000552788.1	37		.	.	.	.	.	.	.	.	.	.	-	38	7.036495	0.98017	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	4.04	4.04	0.47022	.	0.273630	0.33057	U	0.005330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-4.2358	11.7906	0.52068	0.0:0.0:1.0:0.0	.	.	.	.	X	676;811;811;811;605;811;676	.	ENSP00000340159:E676X	E	+	1	0	NWD1	16744957	1.000000	0.71417	0.919000	0.36401	0.781000	0.44180	6.356000	0.73046	1.834000	0.53371	0.459000	0.35465	GAA		0.572	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
MPV17L2	84769	broad.mit.edu	37	19	18306814	18306815	+	Missense_Mutation	DNP	AG	AG	CC			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:18306814_18306815AG>CC	ENST00000599612.2	+	5	670_671	c.570_571AG>CC	c.(568-573)ccAGtt>ccCCtt	p.V191L		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	191						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.P190>?(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4						GACAGAGCCCAGTTCCTCTGAC	0.614																																					.												.	.	1	Complex(1)	large_intestine(1)	c.570_571CC	19						.																																			18167815	SO:0001583	missense	84769	exon5			AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	Exception_encountered	19.37:g.18306814_18306815delinsCC	ENSP00000469836:p.Val191Leu		18167814	NM_032683	Q96P34|Q96QA0|Q9BSG4	Missense_Mutation	DNP	ENST00000599612.2	37	CCDS42522.1																																																																																				0.614	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466294.2	NM_032683	
ZNF14	7561	broad.mit.edu	37	19	19822367	19822367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:19822367G>A	ENST00000344099.3	-	4	1861	c.1723C>T	c.(1723-1725)Cga>Tga	p.R575*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R575*(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGCATTCGAAATTTACTG	0.403																																					p.R575X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1723T	19						.						66.0	65.0	66.0					19																	19822367		2203	4300	6503	19683367	SO:0001587	stop_gained	7561	exon4			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1723C>T	19.37:g.19822367G>A	ENSP00000340514:p.Arg575*		19683367	NM_021030	B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	36	5.934387	0.97122	.	.	ENSG00000105708	ENST00000344099	.	.	.	1.24	0.165	0.14995	.	.	.	.	.	.	.	.	.	.	.	0.49483	D	0.999796	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	2.553	0.04753	0.2283:0.322:0.4497:0.0	.	.	.	.	X	575	.	ENSP00000340514:R575X	R	-	1	2	ZNF14	19683367	0.000000	0.05858	0.001000	0.08648	0.962000	0.63368	-2.266000	0.01171	0.083000	0.17047	0.467000	0.42956	CGA		0.403	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030	
ZNF14	7561	broad.mit.edu	37	19	19822451	19822451	+	Nonsense_Mutation	SNP	G	G	A	rs150668126		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:19822451G>A	ENST00000344099.3	-	4	1777	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R547*(2)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCATGCAATCGAATTTGACTG	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22228	0.0		0.0	False		,,,				2504	0.001				p.R547X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1639T	19						.	G	stop/ARG	0,4406		0,0,2203	90.0	83.0	86.0		1639	1.7	0.0	19	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	ZNF14	NM_021030.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		547/643	19822451	1,13005	2203	4300	6503	19683451	SO:0001587	stop_gained	7561	exon4			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1639C>T	19.37:g.19822451G>A	ENSP00000340514:p.Arg547*		19683451	NM_021030	B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202733	0.97371	0.0	1.16E-4	ENSG00000105708	ENST00000344099	.	.	.	1.68	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.50039	D	0.99984	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	5.2247	0.15387	0.0:0.0:0.6593:0.3406	.	.	.	.	X	547	.	ENSP00000340514:R547X	R	-	1	2	ZNF14	19683451	0.000000	0.05858	0.001000	0.08648	0.916000	0.54674	-3.483000	0.00456	0.907000	0.36646	0.467000	0.42956	CGA		0.388	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030	
ZNF14	7561	broad.mit.edu	37	19	19824904	19824904	+	Nonsense_Mutation	SNP	G	G	A	rs573777738		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:19824904G>A	ENST00000344099.3	-	3	325	c.187C>T	c.(187-189)Cga>Tga	p.R63*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R63*(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACTCACCTTCGATTTTTCCCC	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14001	0.0		0.0	False		,,,				2504	0.0				p.R63X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C187T	19						.						111.0	103.0	105.0					19																	19824904		2203	4300	6503	19685904	SO:0001587	stop_gained	7561	exon3			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.187C>T	19.37:g.19824904G>A	ENSP00000340514:p.Arg63*		19685904	NM_021030	B9EGA4|Q9ULZ5	Nonsense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265879	0.40095	.	.	ENSG00000105708	ENST00000344099	.	.	.	1.37	-1.36	0.09085	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	1.8602	0.03187	0.2314:0.0:0.448:0.3206	.	.	.	.	X	63	.	ENSP00000340514:R63X	R	-	1	2	ZNF14	19685904	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	0.054000	0.14205	-0.308000	0.08792	0.467000	0.42956	CGA		0.368	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030	
ZNF253	56242	broad.mit.edu	37	19	20002715	20002715	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:20002715G>T	ENST00000589717.1	+	4	751	c.659G>T	c.(658-660)aGa>aTa	p.R220I	CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.R144I|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	220				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R220I(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACACATAAGAGAATTCATACC	0.378																																					p.R220I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G659T	19						.						37.0	41.0	39.0					19																	20002715		2169	4277	6446	19863715	SO:0001583	missense	56242	exon4			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.659G>T	19.37:g.20002715G>T	ENSP00000468720:p.Arg220Ile		19863715	NM_021047	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	5.642	0.303048	0.10678	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	-1.75	0.08031	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45597	0.1350	M	0.64260	1.97	0.46222	D	0.998932	B	0.29162	0.235	B	0.24974	0.057	T	0.10800	-1.0614	7	.	.	.	.	5.676	0.17749	0.0:0.0:0.686:0.314	.	220	O75346	ZN253_HUMAN	I	220	.	.	R	+	2	0	ZNF253	19863715	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.087000	0.11215	-0.892000	0.03935	-0.901000	0.02856	AGA		0.378	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047	
ZNF253	56242	broad.mit.edu	37	19	20003002	20003002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:20003002G>T	ENST00000589717.1	+	4	1038	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Nonsense_Mutation_p.E240*|AC011477.1_ENST00000578823.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	316				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E316*(1)|p.E288*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAACTGTGAAGAATGTGGCAA	0.403																																					p.E316X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G946T	19						.						48.0	53.0	51.0					19																	20003002		2140	4270	6410	19864002	SO:0001587	stop_gained	56242	exon4			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.946G>T	19.37:g.20003002G>T	ENSP00000468720:p.Glu316*		19864002	NM_021047	A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Nonsense_Mutation	SNP	ENST00000589717.1	37	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	g	18.38	3.611247	0.66558	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	-1.63	0.08345	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8888	0.18896	0.0:0.3288:0.6712:0.0	.	.	.	.	X	316	.	.	E	+	1	0	ZNF253	19864002	0.000000	0.05858	0.385000	0.26158	0.386000	0.30323	-0.352000	0.07701	0.293000	0.22520	0.298000	0.19748	GAA		0.403	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047	
ZNF93	81931	broad.mit.edu	37	19	20044140	20044140	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:20044140C>T	ENST00000343769.5	+	4	404	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	126					regulation of transcription, DNA-templated (GO:0006355)|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)	p.H126Y(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GTGTAAGGTGCACACAGGAGG	0.333																																					p.H126Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C376T	19						.						81.0	85.0	84.0					19																	20044140		2203	4299	6502	19905140	SO:0001583	missense	81931	exon4			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.376C>T	19.37:g.20044140C>T	ENSP00000342002:p.His126Tyr		19905140	NM_031218	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	c	6.904	0.536384	0.13188	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.05081	3.5	0.149	0.149	0.14863	.	.	.	.	.	T	0.06234	0.0161	L	0.53671	1.685	0.09310	N	1	B	0.15141	0.012	B	0.18871	0.023	T	0.44862	-0.9300	9	0.16896	T	0.51	.	6.0152	0.19598	0.0:0.9995:0.0:5.0E-4	.	126	P35789	ZNF93_HUMAN	Y	126	ENSP00000342002:H126Y	ENSP00000342002:H126Y	H	+	1	0	ZNF93	19905140	0.001000	0.12720	0.330000	0.25442	0.331000	0.28603	-0.219000	0.09228	0.192000	0.20272	0.195000	0.17529	CAC		0.333	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218	
ZNF626	199777	broad.mit.edu	37	19	20807415	20807415	+	Missense_Mutation	SNP	C	C	A	rs111685309		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:20807415C>A	ENST00000601440.1	-	4	1414	c.1268G>T	c.(1267-1269)aGa>aTa	p.R423I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R423I(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTTGTAGGGTCTCTCTCCAGT	0.378																																					p.R423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1268T	19						.																																			20599255	SO:0001583	missense	199777	exon4			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1268G>T	19.37:g.20807415C>A	ENSP00000469958:p.Arg423Ile		20599255	NM_001076675	Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.047	-1.264011	0.01433	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.8	0.07907	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50922	0.1644	M	0.78049	2.395	0.19575	N	0.999961	P	0.38300	0.626	P	0.44518	0.452	T	0.49744	-0.8907	8	0.87932	D	0	.	6.3468	0.21353	0.0:0.217:0.0:0.783	.	423	Q68DY1	ZN626_HUMAN	I	423;347;423	.	ENSP00000445201:R423I	R	-	2	0	ZNF626	20599255	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.051000	0.01402	-2.089000	0.00860	-2.077000	0.00380	AGA		0.378	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
ZNF85	7639	broad.mit.edu	37	19	21132830	21132830	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:21132830C>A	ENST00000328178.8	+	4	1623	c.1510C>A	c.(1510-1512)Cat>Aat	p.H504N	ZNF85_ENST00000601023.1_Missense_Mutation_p.H445N|ZNF85_ENST00000345030.6_Missense_Mutation_p.H471N	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	504					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)|transcription corepressor activity (GO:0003714)	p.H504N(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAAGATAATTCATACTGGAGA	0.348																																					p.H504N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1510A	19						.						25.0	28.0	27.0					19																	21132830		2162	4281	6443	20924670	SO:0001583	missense	7639	exon4			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1510C>A	19.37:g.21132830C>A	ENSP00000329793:p.His504Asn		20924670	NM_003429	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	11.11	1.542839	0.27563	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.67345	-0.26;-0.26	1.35	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83022	0.5164	M	0.92555	3.32	0.80722	D	1	B;P;D	0.89917	0.094;0.941;1.0	B;D;D	0.97110	0.192;0.96;1.0	D	0.83983	0.0333	9	0.87932	D	0	.	9.5712	0.39429	0.0:1.0:0.0:0.0	.	471;445;504	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	N	504;471;379	ENSP00000329793:H504N;ENSP00000342340:H471N	ENSP00000329793:H504N	H	+	1	0	ZNF85	20924670	0.997000	0.39634	0.021000	0.16686	0.029000	0.11900	5.344000	0.65981	0.681000	0.31386	0.462000	0.41574	CAT		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429	
ZNF714	148206	broad.mit.edu	37	19	21300716	21300716	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:21300716A>C	ENST00000596143.1	+	5	1571	c.1246A>C	c.(1246-1248)Ata>Cta	p.I416L	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I416L(1)		endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CAAACATAAGATAATTCATAC	0.348																																					p.I416L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1246C	19						.						36.0	39.0	38.0					19																	21300716		2156	4279	6435	21092556	SO:0001583	missense	148206	exon5			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1246A>C	19.37:g.21300716A>C	ENSP00000472368:p.Ile416Leu		21092556	NM_182515	Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	0.448	-0.895349	0.02491	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	1.05	0.20165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10766	0.0263	N	0.01473	-0.845	0.19775	N	0.999952	B;B;B	0.27951	0.1;0.195;0.121	B;B;B	0.29077	0.041;0.053;0.098	T	0.23154	-1.0196	8	0.51188	T	0.08	.	4.7231	0.12927	0.6742:0.3258:0.0:0.0	.	417;416;417	Q96N38-2;A6NEM4;Q96N38	.;.;ZN714_HUMAN	L	416	.	ENSP00000291770:I416L	I	+	1	0	ZNF714	21092556	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.745000	0.04834	0.389000	0.25086	0.379000	0.24179	ATA		0.348	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515	
ZNF431	170959	broad.mit.edu	37	19	21366169	21366169	+	Nonsense_Mutation	SNP	C	C	T	rs138249393		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:21366169C>T	ENST00000311048.7	+	5	1207	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	355					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.R355*(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTTTTAATCGATTCTCATA	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21626	0.0		0.0	False		,,,				2504	0.0				p.R355X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1063T	19						.						38.0	40.0	39.0					19																	21366169		2203	4299	6502	21158009	SO:0001587	stop_gained	170959	exon5			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1063C>T	19.37:g.21366169C>T	ENSP00000308578:p.Arg355*		21158009	NM_133473	A8KAK7|Q8IWC4	Nonsense_Mutation	SNP	ENST00000311048.7	37	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	14.50	2.553801	0.45487	.	.	ENSG00000196705	ENST00000311048	.	.	.	1.0	1.0	0.19881	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	6.6688	0.23056	0.0:0.6996:0.3004:0.0	.	.	.	.	X	355	.	ENSP00000308578:R355X	R	+	1	2	ZNF431	21158009	0.000000	0.05858	0.374000	0.26016	0.339000	0.28857	-1.086000	0.03386	0.446000	0.26666	0.449000	0.29647	CGA		0.363	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	XM_086098	
ZNF708	7562	broad.mit.edu	37	19	21477032	21477032	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:21477032G>T	ENST00000356929.3	-	4	933	c.736C>A	c.(736-738)Cat>Aat	p.H246N		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H246N(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCTCCAGTATGAATTATCTTA	0.358																																					p.H246N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C736A	19						.						40.0	42.0	42.0					19																	21477032		2141	4268	6409	21268872	SO:0001583	missense	7562	exon4			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.736C>A	19.37:g.21477032G>T	ENSP00000349401:p.His246Asn		21268872	NM_021269	Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	12.70	2.016563	0.35606	.	.	ENSG00000182141	ENST00000356929	T	0.67345	-0.26	1.05	-2.04	0.07343	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82116	0.4967	M	0.93763	3.455	0.27959	N	0.936836	D	0.67145	0.996	D	0.74023	0.982	T	0.72354	-0.4319	9	0.87932	D	0	.	6.8256	0.23880	0.0:0.0:0.7233:0.2767	.	246	P17019	ZN708_HUMAN	N	246	ENSP00000349401:H246N	ENSP00000349401:H246N	H	-	1	0	ZNF708	21268872	1.000000	0.71417	0.630000	0.29268	0.610000	0.37248	4.964000	0.63701	-0.504000	0.06577	-0.515000	0.04445	CAT		0.358	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269	
ZNF429	353088	broad.mit.edu	37	19	21719685	21719685	+	Missense_Mutation	SNP	G	G	T	rs199693920	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:21719685G>T	ENST00000358491.4	+	4	1038	c.830G>T	c.(829-831)aGa>aTa	p.R277I	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R277I(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACCCATAAGAGAATTCATTCT	0.373													g|||	47	0.00938498	0.0	0.0	5008	,	,		20256	0.002		0.0	False		,,,				2504	0.046				p.R277I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G830T	19						.	G	ILE/ARG	2,4244		0,2,2121	38.0	42.0	40.0		830	0.9	0.0	19		40	0,8546		0,0,4273	yes	missense	ZNF429	NM_001001415.2	97	0,2,6394	TT,TG,GG		0.0,0.0471,0.0156	benign	277/675	21719685	2,12790	2123	4273	6396	21511525	SO:0001583	missense	353088	exon4			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.830G>T	19.37:g.21719685G>T	ENSP00000351280:p.Arg277Ile		21511525	NM_001001415	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	0.508	-0.867811	0.02590	4.71E-4	0.0	ENSG00000197013	ENST00000358491	T	0.24908	1.83	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23014	0.0556	M	0.64404	1.975	0.45747	D	0.998642	B	0.06786	0.001	B	0.06405	0.002	T	0.05370	-1.0889	9	0.29301	T	0.29	.	8.5632	0.33523	0.0:0.0:1.0:0.0	.	277	Q86V71	ZN429_HUMAN	I	277	ENSP00000351280:R277I	ENSP00000351280:R277I	R	+	2	0	ZNF429	21511525	0.000000	0.05858	0.014000	0.15608	0.013000	0.08279	-0.179000	0.09768	0.293000	0.22520	0.298000	0.19748	AGA		0.373	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
ZNF43	7594	broad.mit.edu	37	19	21990937	21990937	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:21990937G>A	ENST00000354959.4	-	4	2071	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	ZNF43_ENST00000595461.1_Silent_p.F628F|ZNF43_ENST00000594012.1_Silent_p.F628F|ZNF43_ENST00000598381.1_Silent_p.F628F	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	634					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F634F(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAAGAGTTGAGAACTGGTTAA	0.363																																					p.F634F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1902T	19						.						44.0	46.0	45.0					19																	21990937		2201	4295	6496	21782777	SO:0001819	synonymous_variant	7594	exon4			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1902C>T	19.37:g.21990937G>A			21782777	NM_003423	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																				0.363	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF43	7594	broad.mit.edu	37	19	21991751	21991751	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:21991751A>G	ENST00000354959.4	-	4	1257	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	ZNF43_ENST00000595461.1_Missense_Mutation_p.I357T|ZNF43_ENST00000594012.1_Missense_Mutation_p.I357T|ZNF43_ENST00000598381.1_Missense_Mutation_p.I357T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I363T(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGCAGTATGGATTCTCTTATG	0.353																																					p.I363T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1088C	19						.						61.0	62.0	62.0					19																	21991751		2203	4300	6503	21783591	SO:0001583	missense	7594	exon4			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1088T>C	19.37:g.21991751A>G	ENSP00000347045:p.Ile363Thr		21783591	NM_003423	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	6.026	0.373201	0.11409	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.08896	3.04	1.93	-0.605	0.11623	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07593	0.0191	N	0.13003	0.285	0.26025	N	0.981816	P	0.35944	0.529	P	0.47075	0.536	T	0.42716	-0.9435	9	0.42905	T	0.14	.	6.1061	0.20073	0.554:0.0:0.446:0.0	.	363	P17038	ZNF43_HUMAN	T	362;363	ENSP00000347045:I363T	ENSP00000347045:I363T	I	-	2	0	ZNF43	21783591	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.039000	0.13884	-0.402000	0.07633	0.397000	0.26171	ATC		0.353	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF208	7757	broad.mit.edu	37	19	22155609	22155609	+	Missense_Mutation	SNP	G	G	T	rs527498161		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:22155609G>T	ENST00000397126.4	-	4	2375	c.2227C>A	c.(2227-2229)Cat>Aat	p.H743N	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	743					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H643N(2)|p.H743N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGTATGAATTACCTTA	0.368																																					p.H743N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2227A	19						.						44.0	48.0	47.0					19																	22155609		2063	4223	6286	21947449	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2227C>A	19.37:g.22155609G>T	ENSP00000380315:p.His743Asn		21947449	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923871	0.34002	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.67345	-0.26	2.13	2.13	0.27403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79493	0.4455	.	.	.	0.18873	N	0.999985	D	0.59767	0.986	D	0.81914	0.995	T	0.67425	-0.5674	8	0.87932	D	0	.	10.9622	0.47391	0.0:0.0:1.0:0.0	.	643	O43345	ZN208_HUMAN	N	743;643	ENSP00000380315:H743N	ENSP00000380315:H743N	H	-	1	0	ZNF208	21947449	1.000000	0.71417	0.015000	0.15790	0.485000	0.33311	6.714000	0.74692	0.740000	0.32651	0.280000	0.19369	CAT		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	broad.mit.edu	37	19	22157583	22157583	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:22157583G>T	ENST00000397126.4	-	4	401	c.253C>A	c.(253-255)Ctt>Att	p.L85I	ZNF208_ENST00000599916.1_Missense_Mutation_p.L85I|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L85I(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTGGCCAAAGATCTTGAGCA	0.299																																					p.L85I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C253A	19						.						27.0	27.0	27.0					19																	22157583		2049	4247	6296	21949423	SO:0001583	missense	7757	exon4			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.253C>A	19.37:g.22157583G>T	ENSP00000380315:p.Leu85Ile		21949423	NM_007153		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	1.858	-0.463254	0.04476	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07688	3.17	1.41	-2.82	0.05787	.	.	.	.	.	T	0.04318	0.0119	.	.	.	0.09310	N	1	P;B	0.38827	0.649;0.081	B;B	0.37833	0.259;0.061	T	0.24225	-1.0166	8	0.25751	T	0.34	.	0.5934	0.00731	0.1944:0.2278:0.349:0.2288	.	85;85	O43345;F8WEA0	ZN208_HUMAN;.	I	85	ENSP00000380315:L85I	ENSP00000380315:L85I	L	-	1	0	ZNF208	21949423	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.139000	0.03213	-1.573000	0.01659	0.297000	0.19635	CTT		0.299	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF257	113835	broad.mit.edu	37	19	22271202	22271202	+	Missense_Mutation	SNP	C	C	A	rs199774213	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:22271202C>A	ENST00000594947.1	+	4	794	c.650C>A	c.(649-651)aCt>aAt	p.T217N	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T217N(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCAGCTCTTACTCGACATAAG	0.388																																					p.T217N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C650A	19						.						40.0	43.0	42.0					19																	22271202		2187	4294	6481	22063042	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.650C>A	19.37:g.22271202C>A	ENSP00000470209:p.Thr217Asn		22063042	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	6.814	0.519266	0.13005	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.926	-0.301	0.12800	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17365	0.0417	N	0.11818	0.18	0.09310	N	1	B	0.12630	0.006	B	0.17433	0.018	T	0.21415	-1.0246	8	0.41790	T	0.15	.	3.3883	0.07280	0.0:0.5017:0.2722:0.2261	.	217	Q9Y2Q1	ZN257_HUMAN	N	217;189	.	ENSP00000380312:T189N	T	+	2	0	ZNF257	22063042	0.000000	0.05858	0.029000	0.17559	0.037000	0.13140	-4.361000	0.00246	0.308000	0.22923	0.313000	0.20887	ACT		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF257	113835	broad.mit.edu	37	19	22271727	22271727	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:22271727G>A	ENST00000594947.1	+	4	1319	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R392K(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAACATAAGAGAATTCATACT	0.358																																					p.R392K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1175A	19						.						39.0	45.0	43.0					19																	22271727		2094	4242	6336	22063567	SO:0001583	missense	113835	exon4			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1175G>A	19.37:g.22271727G>A	ENSP00000470209:p.Arg392Lys		22063567	NM_033468	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	1.720	-0.496857	0.04291	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24547	0.0595	N	0.20304	0.555	0.27340	N	0.956525	B	0.09022	0.002	B	0.06405	0.002	T	0.18935	-1.0321	8	0.30078	T	0.28	.	6.8003	0.23748	0.0:0.2954:0.7046:0.0	.	392	Q9Y2Q1	ZN257_HUMAN	K	392;364	.	ENSP00000380312:R364K	R	+	2	0	ZNF257	22063567	0.000000	0.05858	0.670000	0.29842	0.585000	0.36419	-0.093000	0.11111	0.518000	0.28383	0.313000	0.20887	AGA		0.358	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1		
ZNF99	7652	broad.mit.edu	37	19	22939845	22939845	+	IGR	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:22939845G>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.S829L|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S829L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTACGATTTCTCCCT	0.373																																					p.S829L												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C2486T	19						.						83.0	93.0	90.0					19																	22939845		2075	4237	6312	22731685	SO:0001628	intergenic_variant	7652	exon6			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939845G>A			22731685	NM_001080409	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	6.962	0.547466	0.13312	.	.	ENSG00000213973	ENST00000397104	T	0.16897	2.31	1.14	-0.432	0.12291	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32745	-0.9895	9	0.59425	D	0.04	.	5.414	0.16363	0.0:0.0:0.6702:0.3298	.	829	A8MXY4	ZNF99_HUMAN	L	829	ENSP00000380293:S829L	ENSP00000380293:S829L	S	-	2	0	ZNF99	22731685	0.005000	0.15991	0.000000	0.03702	0.015000	0.08874	0.591000	0.23969	-0.373000	0.07979	0.173000	0.16961	TCG		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124	
ZNF675	171392	broad.mit.edu	37	19	23837076	23837076	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:23837076C>A	ENST00000359788.4	-	4	827	c.659G>T	c.(658-660)aGa>aTa	p.R220I	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	220					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R220I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTATAAATTCTTTTATGTTT	0.308																																					p.R220I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659T	19						.						37.0	39.0	39.0					19																	23837076		2198	4294	6492	23628916	SO:0001583	missense	171392	exon4				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.659G>T	19.37:g.23837076C>A	ENSP00000352836:p.Arg220Ile		23628916	NM_138330	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	13.60	2.286583	0.40494	.	.	ENSG00000197372	ENST00000359788	T	0.18502	2.21	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	L	0.54965	1.715	0.53688	D	0.999972	B	0.14805	0.011	B	0.14023	0.01	T	0.05533	-1.0879	9	0.37606	T	0.19	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	220	Q8TD23	ZN675_HUMAN	I	220	ENSP00000352836:R220I	ENSP00000352836:R220I	R	-	2	0	ZNF675	23628916	0.000000	0.05858	0.247000	0.24249	0.243000	0.25628	0.111000	0.15458	0.300000	0.22699	0.305000	0.20034	AGA		0.308	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
ZNF675	171392	broad.mit.edu	37	19	23837454	23837454	+	Missense_Mutation	SNP	G	G	T	rs184143302	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:23837454G>T	ENST00000359788.4	-	4	449	c.281C>A	c.(280-282)tCt>tAt	p.S94Y	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	94					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S94Y(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTTCAAAAGAATCTTTTAT	0.318																																					p.S94Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C281A	19						.						39.0	40.0	39.0					19																	23837454		2203	4296	6499	23629294	SO:0001583	missense	171392	exon4				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.281C>A	19.37:g.23837454G>T	ENSP00000352836:p.Ser94Tyr		23629294	NM_138330	Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	2.058	-0.416001	0.04766	.	.	ENSG00000197372	ENST00000359788	T	0.08193	3.12	0.916	0.916	0.19373	.	.	.	.	.	T	0.09774	0.0240	M	0.71871	2.18	0.09310	N	1	B	0.20780	0.048	B	0.25614	0.062	T	0.37798	-0.9690	9	0.23302	T	0.38	.	4.9698	0.14110	0.0:0.0:1.0:0.0	.	94	Q8TD23	ZN675_HUMAN	Y	94	ENSP00000352836:S94Y	ENSP00000352836:S94Y	S	-	2	0	ZNF675	23629294	0.001000	0.12720	0.296000	0.24974	0.294000	0.27393	0.021000	0.13489	0.300000	0.22699	0.305000	0.20034	TCT		0.318	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330	
ZNF681	148213	broad.mit.edu	37	19	23926803	23926803	+	Nonsense_Mutation	SNP	G	G	A	rs192582128	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:23926803G>A	ENST00000402377.3	-	4	1690	c.1549C>T	c.(1549-1551)Cga>Tga	p.R517*	ZNF681_ENST00000395385.3_Nonsense_Mutation_p.R448*	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R517*(1)|p.R448*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTGAGGATCGATAGAAAGCT	0.383													G|||	7	0.00139776	0.0	0.0	5008	,	,		20639	0.0069		0.0	False		,,,				2504	0.0				p.R517X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1549T	19						.						42.0	46.0	45.0					19																	23926803		2193	4298	6491	23718643	SO:0001587	stop_gained	148213	exon4			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1549C>T	19.37:g.23926803G>A	ENSP00000384000:p.Arg517*		23718643	NM_138286	B3KVF7	Nonsense_Mutation	SNP	ENST00000402377.3	37	CCDS12414.2	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	.	10.82	1.457941	0.26161	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	.	.	.	1.51	-2.25	0.06888	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	0.3901	0.00409	0.2076:0.2373:0.3168:0.2383	.	.	.	.	X	517;448	.	ENSP00000378783:R448X	R	-	1	2	ZNF681	23718643	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-1.775000	0.01783	-0.077000	0.12752	0.313000	0.20887	CGA		0.383	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
MIER2	54531	broad.mit.edu	37	19	325648	325648	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:325648C>T	ENST00000264819.4	-	7	652	c.642G>A	c.(640-642)cgG>cgA	p.R214R	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	214	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R214R(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCTCACAGTGCCGGTTCAAGT	0.567																																					p.R214R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G642A	19						.						239.0	175.0	197.0					19																	325648		2203	4300	6503	276648	SO:0001819	synonymous_variant	54531	exon7			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.642G>A	19.37:g.325648C>T			276648	NM_017550	Q9ULM7	Silent	SNP	ENST00000264819.4	37	CCDS32855.1																																																																																				0.567	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843	
ZNF254	9534	broad.mit.edu	37	19	24309339	24309339	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:24309339G>T	ENST00000357002.4	+	4	652	c.537G>T	c.(535-537)aaG>aaT	p.K179N	ZNF254_ENST00000342944.6_Missense_Mutation_p.K94N	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	179					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K179N(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATACTGAAAAGAAATCTTTCA	0.289																																					p.K179N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G537T	19						.						47.0	53.0	51.0					19																	24309339		2198	4285	6483	24101179	SO:0001583	missense	9534	exon4			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.537G>T	19.37:g.24309339G>T	ENSP00000349494:p.Lys179Asn		24101179	NM_203282	A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	G	7.527	0.657783	0.14645	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.45276	0.9;0.9	1.12	-0.899	0.10547	.	.	.	.	.	T	0.24661	0.0598	L	0.45051	1.395	0.25627	N	0.986346	P	0.41498	0.752	B	0.28139	0.086	T	0.10917	-1.0609	9	0.52906	T	0.07	.	4.7266	0.12943	0.4426:0.0:0.5574:0.0	.	179	O75437	ZN254_HUMAN	N	94;179;179	ENSP00000445527:K94N;ENSP00000349494:K179N	ENSP00000445527:K94N	K	+	3	2	ZNF254	24101179	0.503000	0.26115	0.014000	0.15608	0.144000	0.21451	0.309000	0.19332	-0.286000	0.09076	0.313000	0.20887	AAG		0.289	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876	
UQCRFS1	7386	broad.mit.edu	37	19	29698823	29698823	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:29698823C>T	ENST00000304863.4	-	2	879	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	153					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			AACTTGATTTCGATTTTCGCC	0.478																																					p.E153K												.	.	0			c.G457A	19						.						35.0	36.0	36.0					19																	29698823		2201	4293	6494	34390663	SO:0001583	missense	7386	exon2			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.457G>A	19.37:g.29698823C>T	ENSP00000306397:p.Glu153Lys		34390663	NM_006003	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243141	0.58995	.	.	ENSG00000169021	ENST00000304863	T	0.54479	0.57	5.42	4.39	0.52855	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (2);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	M	0.90542	3.125	0.80722	D	1	D	0.67145	0.996	P	0.54759	0.76	T	0.77608	-0.2524	10	0.87932	D	0	.	12.361	0.55203	0.0:0.9173:0.0:0.0827	.	153	P47985	UCRI_HUMAN	K	153	ENSP00000306397:E153K	ENSP00000306397:E153K	E	-	1	0	UQCRFS1	34390663	1.000000	0.71417	0.982000	0.44146	0.055000	0.15305	5.682000	0.68182	1.255000	0.44051	0.462000	0.41574	GAA		0.478	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003	
ZNF536	9745	broad.mit.edu	37	19	31039277	31039277	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:31039277C>A	ENST00000355537.3	+	4	2898	c.2751C>A	c.(2749-2751)tcC>tcA	p.S917S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	917					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.S917S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCAAGGGTCCTTGCAAGCTT	0.493																																					p.S917S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2751A	19						.						187.0	193.0	191.0					19																	31039277		2203	4300	6503	35731117	SO:0001819	synonymous_variant	9745	exon4				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2751C>A	19.37:g.31039277C>A			35731117	NM_014717	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.493	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
TSHZ3	57616	broad.mit.edu	37	19	31770648	31770648	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:31770648G>A	ENST00000240587.4	-	2	378	c.51C>T	c.(49-51)tcC>tcT	p.S17S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	17					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S17S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTAACTCTTCGGAAACATAGG	0.502																																					p.S17S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C51T	19						.						40.0	41.0	41.0					19																	31770648		1933	4145	6078	36462488	SO:0001819	synonymous_variant	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.51C>T	19.37:g.31770648G>A			36462488	NM_020856	Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	CCDS12421.2																																																																																				0.502	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
DPY19L3	147991	broad.mit.edu	37	19	32927379	32927379	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:32927379A>C	ENST00000342179.5	+	5	571	c.356A>C	c.(355-357)aAa>aCa	p.K119T	DPY19L3_ENST00000586987.1_Missense_Mutation_p.K119T|DPY19L3_ENST00000392250.2_Missense_Mutation_p.K119T	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	119						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.K119T(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TATGATAATAAAACTGAATCT	0.299																																					p.K119T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A356C	19						.						50.0	56.0	54.0					19																	32927379		2201	4286	6487	37619219	SO:0001583	missense	147991	exon5				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.356A>C	19.37:g.32927379A>C	ENSP00000344937:p.Lys119Thr		37619219	NM_001172774	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.140566	0.37825	.	.	ENSG00000178904	ENST00000392250;ENST00000319326;ENST00000342179	T;T	0.55588	0.51;0.51	5.87	5.87	0.94306	.	0.121111	0.64402	D	0.000019	T	0.43055	0.1230	L	0.29908	0.895	0.33290	D	0.56345	B	0.25772	0.134	B	0.27170	0.077	T	0.51180	-0.8738	10	0.21014	T	0.42	-26.367	16.2813	0.82687	1.0:0.0:0.0:0.0	.	119	Q6ZPD9	D19L3_HUMAN	T	119	ENSP00000376081:K119T;ENSP00000344937:K119T	ENSP00000315672:K119T	K	+	2	0	DPY19L3	37619219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.289000	0.65656	2.244000	0.73946	0.533000	0.62120	AAA		0.299	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325	
DPY19L3	147991	broad.mit.edu	37	19	32968559	32968559	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:32968559C>T	ENST00000342179.5	+	17	2044	c.1829C>T	c.(1828-1830)gCg>gTg	p.A610V	DPY19L3_ENST00000586987.1_Splice_Site_p.A610V|DPY19L3_ENST00000392250.2_Splice_Site_p.A610V	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	610						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A610V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CGGACCAGAGCGGTGAGGCTC	0.612																																					p.A610V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1829T	19						.						96.0	83.0	87.0					19																	32968559		2203	4300	6503	37660399	SO:0001630	splice_region_variant	147991	exon17				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1830+1C>T	19.37:g.32968559C>T			37660399	NM_001172774	Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401268	0.62288	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.55413	0.52;0.52	5.4	4.34	0.51931	.	0.424987	0.23736	N	0.045064	T	0.28001	0.0690	N	0.11427	0.14	0.44652	D	0.997637	P	0.46952	0.887	B	0.36845	0.234	T	0.05468	-1.0883	10	0.26408	T	0.33	-10.3872	10.8576	0.46808	0.4222:0.5778:0.0:0.0	.	610	Q6ZPD9	D19L3_HUMAN	V	610	ENSP00000376081:A610V;ENSP00000344937:A610V	ENSP00000344937:A610V	A	+	2	0	DPY19L3	37660399	1.000000	0.71417	0.994000	0.49952	0.338000	0.28826	6.754000	0.74909	2.530000	0.85305	0.563000	0.77884	GCG		0.612	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325	Missense_Mutation
ANKRD27	84079	broad.mit.edu	37	19	33134054	33134054	+	Missense_Mutation	SNP	C	C	A	rs138767777		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:33134054C>A	ENST00000306065.4	-	9	915	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	ANKRD27_ENST00000587352.1_Missense_Mutation_p.D253Y	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	253	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.D253Y(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACACCAATATCTTTCTGCTGA	0.483																																					p.D253Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G757T	19						.	C	TYR/ASP	1,4405	2.1+/-5.4	0,1,2202	122.0	125.0	124.0		757	5.2	1.0	19	dbSNP_134	124	0,8600		0,0,4300	no	missense	ANKRD27	NM_032139.2	160	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	253/1051	33134054	1,13005	2203	4300	6503	37825894	SO:0001583	missense	84079	exon9			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.757G>T	19.37:g.33134054C>A	ENSP00000304292:p.Asp253Tyr		37825894	NM_032139	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533021	0.85812	2.27E-4	0.0	ENSG00000105186	ENST00000306065	T	0.32272	1.46	5.24	5.24	0.73138	Vacuolar sorting protein 9 (1);	0.000000	0.64402	D	0.000010	T	0.59280	0.2182	M	0.77486	2.375	0.50467	D	0.999871	D	0.89917	1.0	D	0.80764	0.994	T	0.64232	-0.6456	10	0.87932	D	0	-20.6074	18.8882	0.92388	0.0:1.0:0.0:0.0	.	253	Q96NW4	ANR27_HUMAN	Y	253	ENSP00000304292:D253Y	ENSP00000304292:D253Y	D	-	1	0	ANKRD27	37825894	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	6.742000	0.74843	2.471000	0.83476	0.306000	0.20318	GAT		0.483	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139	
NUDT19	390916	broad.mit.edu	37	19	33202775	33202775	+	Missense_Mutation	SNP	G	G	A	rs371407959		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:33202775G>A	ENST00000397061.3	+	3	1040	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	347						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.R347H(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					ACATACCATCGCCACCTTTAT	0.388																																					p.R347H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040A	19						.	G	HIS/ARG	1,3813		0,1,1906	143.0	135.0	137.0		1040	-5.8	0.0	19		137	0,8286		0,0,4143	no	missense	NUDT19	NM_001105570.1	29	0,1,6049	AA,AG,GG		0.0,0.0262,0.0083	benign	347/376	33202775	1,12099	1907	4143	6050	37894615	SO:0001583	missense	390916	exon3				CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.1040G>A	19.37:g.33202775G>A	ENSP00000380251:p.Arg347His		37894615	NM_001105570		Missense_Mutation	SNP	ENST00000397061.3	37	CCDS42543.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.117636	0.37339	2.62E-4	0.0	ENSG00000213965	ENST00000397061	T	0.45276	0.9	5.59	-5.8	0.02347	.	0.960884	0.08609	U	0.920326	T	0.25901	0.0631	L	0.44542	1.39	0.09310	N	1	B	0.30851	0.297	B	0.16289	0.015	T	0.12426	-1.0548	10	0.52906	T	0.07	-24.497	6.1661	0.20390	0.3605:0.3541:0.2855:0.0	.	347	A8MXV4	NUD19_HUMAN	H	347	ENSP00000380251:R347H	ENSP00000380251:R347H	R	+	2	0	NUDT19	37894615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.263000	0.08670	-1.229000	0.02564	-0.311000	0.09066	CGC		0.388	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723	
ATCAY	85300	broad.mit.edu	37	19	3913756	3913756	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:3913756C>T	ENST00000450849.2	+	9	1334	c.867C>T	c.(865-867)agC>agT	p.S289S	ATCAY_ENST00000398448.3_Splice_Site_p.S295S|ATCAY_ENST00000301260.6_Splice_Site_p.S289S|ATCAY_ENST00000600960.1_Splice_Site_p.S289S	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	289	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCCCGCCAGCGTCAAGTTCA	0.577																																					p.S289S												.	.	0			c.C867T	19						.						71.0	76.0	74.0					19																	3913756		2045	4184	6229	3864756	SO:0001630	splice_region_variant	85300	exon9				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.867-1C>T	19.37:g.3913756C>T			3864756	NM_033064	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	CCDS45923.1																																																																																				0.577	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		Silent
C19orf40	91442	broad.mit.edu	37	19	33464400	33464400	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:33464400C>A	ENST00000588258.1	+	3	285	c.175C>A	c.(175-177)Ctt>Att	p.L59I	C19orf40_ENST00000589646.1_5'UTR|C19orf40_ENST00000590179.1_Intron|CEP89_ENST00000591863.1_5'Flank|CEP89_ENST00000305768.5_5'Flank|CEP89_ENST00000590597.2_5'Flank|C19orf40_ENST00000590281.1_Missense_Mutation_p.L59I	NM_152266.3	NP_689479.1	Q9BTP7	FAP24_HUMAN	chromosome 19 open reading frame 40	59					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L59I(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					ATGCTGCATTCTTTATGTCAC	0.428								Direct reversal of damage																													p.L59I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C175A	19						.						165.0	154.0	158.0					19																	33464400		2203	4300	6503	38156240	SO:0001583	missense	91442	exon3			AK128668	CCDS12426.1, CCDS74327.1	19q13.11	2011-11-24			ENSG00000131944	ENSG00000131944			28467	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 24kDa"""	610884				17289582	Standard	XM_005259393		Approved	FLJ46828, MGC32020, FAAP24	uc002nud.4	Q9BTP7		ENST00000588258.1:c.175C>A	19.37:g.33464400C>A	ENSP00000466121:p.Leu59Ile		38156240	NM_152266	B3KY46|Q8WUJ7|Q96FX6	Missense_Mutation	SNP	ENST00000588258.1	37	CCDS12426.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682284	0.47991	.	.	ENSG00000131944	ENST00000254262	.	.	.	4.88	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	L	0.56769	1.78	0.38805	D	0.955281	B	0.25390	0.125	B	0.24848	0.056	T	0.28870	-1.0030	9	0.09590	T	0.72	-10.4455	5.9284	0.19124	0.1616:0.6832:0.0:0.1552	.	59	Q9BTP7	FAP24_HUMAN	I	59	.	ENSP00000254262:L59I	L	+	1	0	C19orf40	38156240	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.340000	0.52143	1.149000	0.42402	0.585000	0.79938	CTT		0.428	C19orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450823.2	NM_152266	
SCGB2B2	284402	broad.mit.edu	37	19	35085231	35085231	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:35085231G>A	ENST00000601241.1	-	3	2195	c.95C>T	c.(94-96)gCg>gTg	p.A32V	SCGB2B2_ENST00000379204.2_Missense_Mutation_p.A32V|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SC2B2_HUMAN	secretoglobin, family 2B, member 2	32						extracellular region (GO:0005576)		p.A32V(1)									CACAACATTCGCAAGCAGTTT	0.512																																					p.A32V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C95T	19						.						120.0	104.0	109.0					19																	35085231		2203	4300	6503	39777071	SO:0001583	missense	284402	exon2			AK093495	CCDS32989.1	19q13.12	2011-12-14	2011-12-14	2011-12-14	ENSG00000205209	ENSG00000205209		"""Secretoglobins"""	27616	protein-coding gene	gene with protein product		615063	"""secretoglobin-like"""	SCGBL		22155607	Standard	NM_001025591		Approved	SCGB4A2	uc002nvn.3	Q4G0G5		ENST00000601241.1:c.95C>T	19.37:g.35085231G>A	ENSP00000469876:p.Ala32Val		39777071	NM_001025591		Missense_Mutation	SNP	ENST00000601241.1	37	CCDS32989.1	.	.	.	.	.	.	.	.	.	.	g	0.015	-1.545760	0.00926	.	.	ENSG00000205209	ENST00000379204	T	0.13196	2.61	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.09310	N	1	B	0.19073	0.033	B	0.09377	0.004	T	0.38672	-0.9650	7	0.87932	D	0	.	.	.	.	.	32	Q4G0G5	SCGBL_HUMAN	V	32	ENSP00000368502:A32V	ENSP00000368502:A32V	A	-	2	0	SCGBL	39777071	0.024000	0.19004	0.052000	0.19188	0.052000	0.14988	-1.416000	0.02467	-1.443000	0.01953	-1.435000	0.01079	GCG		0.512	SCGB2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461457.2	NM_001025591	
ZNF302	55900	broad.mit.edu	37	19	35175636	35175636	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:35175636C>T	ENST00000446502.2	+	6	1034	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	ZNF302_ENST00000423823.2_Missense_Mutation_p.R232C|ZNF302_ENST00000505242.1_Missense_Mutation_p.R232C|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.R232C			Q9NR11	ZN302_HUMAN	zinc finger protein 302	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R232C(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTATGAATGTCGTGAATGTGG	0.443																																					p.R232C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C694T	19						.						86.0	91.0	89.0					19																	35175636		2202	4300	6502	39867476	SO:0001583	missense	55900	exon5			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.826C>T	19.37:g.35175636C>T	ENSP00000396379:p.Arg276Cys		39867476	NM_001012320	Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	37		.	.	.	.	.	.	.	.	.	.	C	10.52	1.374354	0.24857	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.18502	2.45;2.45;2.45;2.21	0.967	0.967	0.19674	.	.	.	.	.	T	0.21509	0.0518	L	0.39020	1.185	0.09310	N	0.999997	D;D	0.76494	0.999;0.998	P;P	0.57846	0.828;0.799	T	0.10291	-1.0636	9	0.87932	D	0	.	4.9136	0.13835	0.0:0.6062:0.3938:0.0	.	276;232	E7EVR1;Q9NR11-2	.;.	C	232;232;232;276	ENSP00000391067:R232C;ENSP00000421028:R232C;ENSP00000405219:R232C;ENSP00000396379:R276C	ENSP00000405219:R232C	R	+	1	0	ZNF302	39867476	0.000000	0.05858	0.893000	0.35052	0.554000	0.35429	-1.493000	0.02298	0.822000	0.34565	0.467000	0.42956	CGT		0.443	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1		
CD22	933	broad.mit.edu	37	19	35823651	35823651	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:35823651G>A	ENST00000085219.5	+	3	302	c.236G>A	c.(235-237)aGc>aAc	p.S79N	CD22_ENST00000419549.2_5'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.S79N|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000341773.6_Missense_Mutation_p.S79N|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.S79N|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.S79N	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	79	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTCTATGAAAGCACAAAGGAT	0.468																																					p.S79N	Ovarian(42;1009 1133 23674 26041)											.	.	0			c.G236A	19						.						102.0	96.0	98.0					19																	35823651		2203	4300	6503	40515491	SO:0001583	missense	933	exon3			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.236G>A	19.37:g.35823651G>A	ENSP00000085219:p.Ser79Asn		40515491	NM_001185100	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	3.441	-0.114066	0.06881	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.08	-10.0	0.00425	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.303910	0.01535	N	0.018983	T	0.13756	0.0333	N	0.01410	-0.885	0.19775	N	0.999953	B;B;B;B	0.12630	0.0;0.006;0.0;0.0	B;B;B;B	0.09377	0.001;0.004;0.0;0.001	T	0.15009	-1.0452	10	0.23302	T	0.38	.	2.0996	0.03676	0.1868:0.2284:0.3754:0.2094	.	79;79;79;79	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	N	79	ENSP00000085219:S79N;ENSP00000442279:S79N;ENSP00000339349:S79N;ENSP00000441237:S79N	ENSP00000085219:S79N	S	+	2	0	CD22	40515491	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.598000	0.02087	-1.610000	0.01583	-1.008000	0.02478	AGC		0.468	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
CD22	933	broad.mit.edu	37	19	35832688	35832688	+	Missense_Mutation	SNP	G	G	A	rs202226815	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:35832688G>A	ENST00000085219.5	+	9	1921	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	CD22_ENST00000419549.2_Missense_Mutation_p.D447N|CD22_ENST00000536635.2_Missense_Mutation_p.D531N|CD22_ENST00000341773.6_Missense_Mutation_p.D442N|CD22_ENST00000544992.2_Missense_Mutation_p.D619N|CD22_ENST00000270311.6_Missense_Mutation_p.D499N|CD22_ENST00000594250.1_Missense_Mutation_p.D442N	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	619	Ig-like C2-type 6.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.D619N(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGTGAGAGCGACGCCAACCC	0.612													G|||	2	0.000399361	0.0008	0.0	5008	,	,		17703	0.0		0.001	False		,,,				2504	0.0				p.D619N	Ovarian(42;1009 1133 23674 26041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1855A	19						.	G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	135.0	108.0	117.0		1591,1855,1324,1855	5.4	0.5	19		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CD22	NM_001185099.1,NM_001185100.1,NM_001185101.1,NM_001771.3	23,23,23,23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	531/760,619/752,442/671,619/848	35832688	2,13004	2203	4300	6503	40524528	SO:0001583	missense	933	exon9			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1855G>A	19.37:g.35832688G>A	ENSP00000085219:p.Asp619Asn		40524528	NM_001185100	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.06	3.014541	0.54468	2.27E-4	1.16E-4	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6	5.39	5.39	0.77823	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000049	T	0.32224	0.0822	M	0.61703	1.905	0.33078	D	0.536241	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;1.0;0.997;1.0;1.0	T	0.25293	-1.0136	10	0.18710	T	0.47	.	14.648	0.68774	0.0:0.0:1.0:0.0	.	447;619;531;619;442	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	N	619;531;442;619;499;447	ENSP00000085219:D619N;ENSP00000442279:D531N;ENSP00000339349:D442N;ENSP00000441237:D619N;ENSP00000270311:D499N;ENSP00000403822:D447N	ENSP00000085219:D619N	D	+	1	0	CD22	40524528	0.976000	0.34144	0.483000	0.27378	0.078000	0.17371	5.088000	0.64486	2.548000	0.85928	0.561000	0.74099	GAC		0.612	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
FFAR2	2867	broad.mit.edu	37	19	35940829	35940829	+	Silent	SNP	G	G	A	rs373797261		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:35940829G>A	ENST00000599180.2	+	2	293	c.213G>A	c.(211-213)tcG>tcA	p.S71S	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.S71S			O15552	FFAR2_HUMAN	free fatty acid receptor 2	71					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.S71S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGCTGCGTCGAACTTCCGCT	0.627																																					p.S71S	GBM(40;139 809 9833 23358 48736)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G213A	19						.	G		1,4405	2.1+/-5.4	0,1,2202	52.0	42.0	45.0		213	-11.2	0.0	19		45	0,8600		0,0,4300	no	coding-synonymous	FFAR2	NM_005306.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		71/331	35940829	1,13005	2203	4300	6503	40632669	SO:0001819	synonymous_variant	2867	exon1			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.213G>A	19.37:g.35940829G>A			40632669	NM_005306	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																				0.627	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
NPHS1	4868	broad.mit.edu	37	19	36333318	36333318	+	Silent	SNP	C	C	T	rs371646734		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:36333318C>T	ENST00000378910.5	-	18	2468	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A	NPHS1_ENST00000353632.6_Silent_p.A823A	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	823	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.A823A(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCTGGAGGCGCCACCCCAT	0.587																																					p.A823A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2469A	19						.	C		1,4405	2.1+/-5.4	0,1,2202	77.0	70.0	72.0		2469	-3.4	1.0	19		72	0,8600		0,0,4300	no	coding-synonymous	NPHS1	NM_004646.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		823/1242	36333318	1,13005	2203	4300	6503	41025158	SO:0001819	synonymous_variant	4868	exon18				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2469G>A	19.37:g.36333318C>T			41025158	NM_004646	A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	CCDS32996.1																																																																																				0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
APLP1	333	broad.mit.edu	37	19	36364547	36364547	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:36364547C>T	ENST00000221891.4	+	8	1180	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	APLP1_ENST00000537454.2_Missense_Mutation_p.R291C|APLP1_ENST00000586861.1_Missense_Mutation_p.R324C	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	330	Heparin-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.R330C(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGGTGATGCGTGAATGGGC	0.567																																					p.R330C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C988T	19						.						117.0	96.0	103.0					19																	36364547		2203	4300	6503	41056387	SO:0001583	missense	333	exon8			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.988C>T	19.37:g.36364547C>T	ENSP00000221891:p.Arg330Cys		41056387	NM_001024807	O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167854	0.78339	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	T;T	0.50813	0.73;0.73	4.96	3.86	0.44501	Amyloidogenic glycoprotein, E2 domain (2);	0.331711	0.21950	N	0.066753	T	0.58264	0.2110	L	0.46157	1.445	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;P;P;P	0.81914	0.995;0.892;0.804;0.876	T	0.60125	-0.7324	10	0.87932	D	0	-2.6227	9.82	0.40876	0.331:0.669:0.0:0.0	.	324;291;330;330	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	C	291;330	ENSP00000441501:R291C;ENSP00000221891:R330C	ENSP00000221891:R330C	R	+	1	0	APLP1	41056387	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.266000	0.58871	2.296000	0.77279	0.561000	0.74099	CGT		0.567	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807	
ZNF146	7705	broad.mit.edu	37	19	36727559	36727559	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:36727559G>A	ENST00000443387.2	+	4	1209	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.E73K	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	73					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E73K(1)		kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					GAAGCTTTTCGAATGTAATGA	0.398																																					p.E73K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G217A	19						.						89.0	93.0	92.0					19																	36727559		2203	4300	6503	41419399	SO:0001583	missense	7705	exon3			X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.217G>A	19.37:g.36727559G>A	ENSP00000392095:p.Glu73Lys		41419399	NM_001099639	Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	G	8.115	0.779552	0.16120	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.06608	3.28;3.28	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41194	D	0.000933	T	0.04363	0.0120	L	0.28556	0.865	0.24611	N	0.993723	B	0.06786	0.001	B	0.04013	0.001	T	0.38415	-0.9662	10	0.20046	T	0.44	-15.1736	5.8763	0.18830	0.0949:0.0:0.7128:0.1923	.	73	Q15072	OZF_HUMAN	K	73	ENSP00000392095:E73K;ENSP00000400391:E73K	ENSP00000392095:E73K	E	+	1	0	ZNF146	41419399	0.000000	0.05858	1.000000	0.80357	0.977000	0.68977	-0.358000	0.07641	2.773000	0.95371	0.650000	0.86243	GAA		0.398	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145	
ZFP14	57677	broad.mit.edu	37	19	36831575	36831575	+	Missense_Mutation	SNP	G	G	A	rs571512137		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:36831575G>A	ENST00000270001.7	-	5	1268	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R385C(2)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CTCTGATGGCGAACTAGTTGT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22777	0.0		0.0	False		,,,				2504	0.001				p.R385C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1153T	19						.						109.0	101.0	104.0					19																	36831575		2203	4300	6503	41523415	SO:0001583	missense	57677	exon5			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1153C>T	19.37:g.36831575G>A	ENSP00000270001:p.Arg385Cys		41523415	NM_020917	A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	g	13.75	2.331050	0.41297	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26660	1.72	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000513	T	0.44138	0.1279	M	0.75884	2.315	0.21325	N	0.999727	D;D	0.76494	0.999;0.999	D;D	0.65987	0.94;0.94	T	0.27191	-1.0081	10	0.59425	D	0.04	.	7.4247	0.27092	0.0:0.1812:0.632:0.1868	.	385;385	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	C	385	ENSP00000270001:R385C	ENSP00000270001:R385C	R	-	1	0	ZFP14	41523415	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.099000	0.11007	2.270000	0.75569	0.643000	0.83706	CGC		0.388	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
ZFP14	57677	broad.mit.edu	37	19	36831765	36831765	+	Silent	SNP	G	G	A	rs375496169		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:36831765G>A	ENST00000270001.7	-	5	1078	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F321F(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GACCACATACGAAGGCTTTCC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		22762	0.0		0.0	False		,,,				2504	0.001				p.F321F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C963T	19						.	A		0,4406		0,0,2203	95.0	96.0	96.0		963	-7.1	0.9	19		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZFP14	NM_020917.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		321/534	36831765	1,13005	2203	4300	6503	41523605	SO:0001819	synonymous_variant	57677	exon5			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.963C>T	19.37:g.36831765G>A			41523605	NM_020917	A7MD23	Silent	SNP	ENST00000270001.7	37	CCDS33002.1																																																																																				0.413	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
ZFP14	57677	broad.mit.edu	37	19	36832078	36832078	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:36832078C>T	ENST00000270001.7	-	5	765	c.650G>A	c.(649-651)cGa>cAa	p.R217Q		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	217					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)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TTTGTGATGTCGAATAAGATG	0.443																																					p.R217Q												.	.	0			c.G650A	19						.						129.0	116.0	120.0					19																	36832078		2203	4300	6503	41523918	SO:0001583	missense	57677	exon5			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.650G>A	19.37:g.36832078C>T	ENSP00000270001:p.Arg217Gln		41523918	NM_020917	A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	1.549	-0.539625	0.04053	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.07216	3.21	3.85	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35262	N	0.003323	T	0.05914	0.0154	L	0.45422	1.42	0.09310	N	1	D;P	0.56287	0.975;0.913	P;B	0.46026	0.501;0.402	T	0.14200	-1.0481	10	0.02654	T	1	.	3.234	0.06758	0.4335:0.4016:0.0:0.1649	.	217;217	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	Q	217	ENSP00000270001:R217Q	ENSP00000270001:R217Q	R	-	2	0	ZFP14	41523918	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.461000	0.06712	0.938000	0.37419	0.549000	0.68633	CGA		0.443	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917	
ANKRD24	170961	broad.mit.edu	37	19	4219646	4219646	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:4219646C>T	ENST00000600132.1	+	19	3338	c.3062C>T	c.(3061-3063)gCc>gTc	p.A1021V	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A1021V|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A1111V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1021										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCACAGCTGGCCACAGCAGAG	0.652																																					p.A1021V												.	.	0			c.C3062T	19						.						52.0	63.0	59.0					19																	4219646		2179	4285	6464	4170646	SO:0001583	missense	170961	exon19			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3062C>T	19.37:g.4219646C>T	ENSP00000471252:p.Ala1021Val		4170646	NM_133475	O75268|O95781	Missense_Mutation	SNP	ENST00000600132.1	37	CCDS45925.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.309640	0.81247	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.36340	1.28;1.26	3.79	3.79	0.43588	.	.	.	.	.	T	0.43567	0.1253	N	0.24115	0.695	0.30884	N	0.731142	D	0.89917	1.0	D	0.79108	0.992	T	0.37798	-0.9690	9	0.40728	T	0.16	.	11.8657	0.52493	0.0:1.0:0.0:0.0	.	1021	Q8TF21	ANR24_HUMAN	V	1021;1111	ENSP00000321731:A1021V;ENSP00000262970:A1111V	ENSP00000262970:A1111V	A	+	2	0	ANKRD24	4170646	0.995000	0.38212	0.992000	0.48379	0.781000	0.44180	3.364000	0.52328	2.080000	0.62538	0.313000	0.20887	GCC		0.652	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000	
ZFP82	284406	broad.mit.edu	37	19	36884392	36884392	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:36884392A>C	ENST00000392161.3	-	5	1092	c.850T>G	c.(850-852)Tgt>Ggt	p.C284G	ZFP82_ENST00000392171.1_Missense_Mutation_p.C284G	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C284G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACTCTTTACACACATAGGGT	0.443																																					p.C284G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T850G	19						.						149.0	146.0	147.0					19																	36884392		2203	4300	6503	41576232	SO:0001583	missense	284406	exon5			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.850T>G	19.37:g.36884392A>C	ENSP00000431265:p.Cys284Gly		41576232	NM_133466	Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222002	0.58560	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	D;D	0.85258	-1.96;-1.96	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000371	D	0.94801	0.8321	H	0.97491	4.015	0.48696	D	0.999699	D	0.89917	1.0	D	0.97110	1.0	D	0.96110	0.9076	10	0.87932	D	0	.	12.8826	0.58026	1.0:0.0:0.0:0.0	.	284	Q8N141	ZFP82_HUMAN	G	284	ENSP00000431265:C284G;ENSP00000446080:C284G	ENSP00000431265:C284G	C	-	1	0	ZFP82	41576232	1.000000	0.71417	0.997000	0.53966	0.825000	0.46686	8.850000	0.92190	1.879000	0.54435	0.533000	0.62120	TGT		0.443	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466	
ZNF529	57711	broad.mit.edu	37	19	37037801	37037801	+	Silent	SNP	C	C	T	rs186457740		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37037801C>T	ENST00000591340.1	-	5	1817	c.1659G>A	c.(1657-1659)ccG>ccA	p.P553P	ZNF529_ENST00000334116.7_Silent_p.P448P	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P553P(1)|p.P552P(1)		breast(1)	1	Esophageal squamous(110;0.198)					TGTAAATTTTCGGTTGGCAAG	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		21000	0.0		0.001	False		,,,				2504	0.0				p.P553P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1659A	19						.						65.0	66.0	65.0					19																	37037801		2027	4207	6234	41729641	SO:0001819	synonymous_variant	57711	exon6			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.1659G>A	19.37:g.37037801C>T			41729641	NM_001145649	K7EKE1|Q9H731|Q9HCF7	Silent	SNP	ENST00000591340.1	37	CCDS54256.1																																																																																				0.348	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951	
ZNF382	84911	broad.mit.edu	37	19	37118082	37118082	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37118082G>T	ENST00000292928.2	+	5	1396	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I	ZNF382_ENST00000423582.1_Missense_Mutation_p.R379I|ZNF382_ENST00000435416.1_Missense_Mutation_p.R427I|ZNF382_ENST00000439428.1_Missense_Mutation_p.R427I|CTD-3234P18.2_ENST00000585467.1_lincRNA	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	428	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R428I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTCATCAGAGAACTCACACA	0.463																																					p.R428I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1283T	19						.						75.0	75.0	75.0					19																	37118082		2203	4300	6503	41809922	SO:0001583	missense	84911	exon5			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1283G>T	19.37:g.37118082G>T	ENSP00000292928:p.Arg428Ile		41809922	NM_032825	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180387	0.57800	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.02446	4.29;4.29;4.29;4.29	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000231	T	0.09024	0.0223	L	0.49778	1.585	0.49915	D	0.999833	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.975;0.975;0.985	T	0.01222	-1.1414	10	0.66056	D	0.02	.	8.2048	0.31446	0.1086:0.0:0.8914:0.0	.	427;427;428	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	I	379;428;427;427	ENSP00000389722:R379I;ENSP00000292928:R428I;ENSP00000407593:R427I;ENSP00000410113:R427I	ENSP00000292928:R428I	R	+	2	0	ZNF382	41809922	0.001000	0.12720	1.000000	0.80357	0.976000	0.68499	1.145000	0.31577	2.375000	0.81037	0.591000	0.81541	AGA		0.463	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825	
ZNF461	92283	broad.mit.edu	37	19	37130117	37130117	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37130117C>A	ENST00000588268.1	-	6	1357	c.1130G>T	c.(1129-1131)aGa>aTa	p.R377I	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.R354I	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R377I(1)|p.R250I(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTATGAATTCTCTGATGTAT	0.418																																					p.R377I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1130T	19						.						80.0	89.0	86.0					19																	37130117		2192	4296	6488	41821957	SO:0001583	missense	92283	exon6			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1130G>T	19.37:g.37130117C>A	ENSP00000467931:p.Arg377Ile		41821957	NM_153257	A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517876	0.44763	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	T	0.24908	1.83	3.48	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43523	0.1251	L	0.60067	1.865	0.40988	D	0.984832	D;D;B	0.89917	0.988;1.0;0.422	D;D;B	0.81914	0.935;0.995;0.078	T	0.42481	-0.9449	9	0.48119	T	0.1	.	12.1332	0.53955	0.0:0.8245:0.1754:0.0	.	354;299;377	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	I	377;108;354;250	ENSP00000353515:R354I	ENSP00000353515:R354I	R	-	2	0	ZNF461	41821957	0.000000	0.05858	0.967000	0.41034	0.963000	0.63663	0.549000	0.23329	1.941000	0.56285	0.491000	0.48974	AGA		0.418	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
ZNF567	163081	broad.mit.edu	37	19	37211536	37211536	+	Missense_Mutation	SNP	G	G	T	rs146394117		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37211536G>T	ENST00000536254.2	+	6	2132	c.1910G>T	c.(1909-1911)aGa>aTa	p.R637I	ZNF567_ENST00000588311.1_Intron|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.R606I|ZNF567_ENST00000585696.1_Missense_Mutation_p.R606I			Q8N184	ZN567_HUMAN	zinc finger protein 567	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R606I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTCCATCAAAGAACTCACAAG	0.328																																					p.R606I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1817T	19						.	G	ILE/ARG	0,4406		0,0,2203	51.0	54.0	53.0		1817	3.2	1.0	19	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF567	NM_152603.2	97	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	606/617	37211536	1,13005	2203	4300	6503	41903376	SO:0001583	missense	163081	exon4			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1910G>T	19.37:g.37211536G>T	ENSP00000441838:p.Arg637Ile		41903376	NM_152603	B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37		.	.	.	.	.	.	.	.	.	.	G	12.25	1.880625	0.33255	0.0	1.16E-4	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498	T;T	0.32753	2.83;1.44	5.34	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.284007	0.25601	N	0.029541	T	0.28134	0.0694	M	0.71296	2.17	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.33394	-0.9870	10	0.72032	D	0.01	.	3.6807	0.08309	0.0879:0.1686:0.5682:0.1752	.	637	Q8N184	ZN567_HUMAN	I	637;581;606;636	ENSP00000441838:R637I;ENSP00000353957:R606I	ENSP00000353957:R606I	R	+	2	0	ZNF567	41903376	0.004000	0.15560	1.000000	0.80357	0.998000	0.95712	0.263000	0.18478	1.578000	0.49821	0.650000	0.86243	AGA		0.328	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603	
ZNF790	388536	broad.mit.edu	37	19	37310148	37310148	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37310148A>G	ENST00000356725.4	-	5	1218	c.1098T>C	c.(1096-1098)caT>caC	p.H366H	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H366H(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTTACACTCATGAGATTTCT	0.388																																					p.H366H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1098C	19						.						70.0	68.0	69.0					19																	37310148		2203	4300	6503	42001988	SO:0001819	synonymous_variant	388536	exon5			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1098T>C	19.37:g.37310148A>G			42001988	NM_206894		Silent	SNP	ENST00000356725.4	37	CCDS12496.1																																																																																				0.388	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894	
ZNF345	25850	broad.mit.edu	37	19	37367977	37367977	+	Missense_Mutation	SNP	G	G	A	rs143253432		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37367977G>A	ENST00000529555.1	+	2	1033	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R82Q|ZNF345_ENST00000420450.1_Missense_Mutation_p.R82Q|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	82					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R82Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGACATCAGCGAATTCATACT	0.403																																					p.R82Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G245A	19						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	106.0	104.0		245,245,245,245,245	2.2	1.0	19	dbSNP_134	104	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ZNF345	NM_001242472.1,NM_001242474.1,NM_001242475.1,NM_001242476.1,NM_003419.4	43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	82/489,82/489,82/489,82/489,82/489	37367977	1,13005	2203	4300	6503	42059817	SO:0001583	missense	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.245G>A	19.37:g.37367977G>A	ENSP00000431202:p.Arg82Gln		42059817	NM_003419		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438007	0.43326	2.27E-4	0.0	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000331800	T;T;T	0.24723	1.84;1.84;1.84	4.28	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20170	0.0485	L	0.54908	1.71	0.24477	N	0.994366	B	0.31383	0.321	B	0.18561	0.022	T	0.10823	-1.0613	8	.	.	.	.	8.1552	0.31165	0.2079:0.0:0.7921:0.0	.	82	Q14585	ZN345_HUMAN	Q	82	ENSP00000431216:R82Q;ENSP00000431202:R82Q;ENSP00000331120:R82Q	.	R	+	2	0	ZNF345	42059817	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.278000	0.08490	1.128000	0.42052	0.655000	0.94253	CGA		0.403	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
ZNF345	25850	broad.mit.edu	37	19	37368393	37368393	+	Missense_Mutation	SNP	C	C	T	rs368283745		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37368393C>T	ENST00000529555.1	+	2	1449	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R221W|ZNF345_ENST00000420450.1_Missense_Mutation_p.R221W|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	221					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R221W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTCAACATCGGCGGATTCA	0.448																																					p.R221W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C661T	19						.						74.0	71.0	72.0					19																	37368393		2203	4300	6503	42060233	SO:0001583	missense	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.661C>T	19.37:g.37368393C>T	ENSP00000431202:p.Arg221Trp		42060233	NM_003419		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422396	0.43020	.	.	ENSG00000251247	ENST00000420450;ENST00000529555	T;T	0.38077	1.16;1.16	4.14	3.1	0.35709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34135	0.0887	M	0.62209	1.925	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.20773	-1.0265	8	.	.	.	.	9.7199	0.40297	0.0:0.895:0.0:0.105	.	221	Q14585	ZN345_HUMAN	W	221	ENSP00000431216:R221W;ENSP00000431202:R221W	.	R	+	1	2	ZNF345	42060233	0.001000	0.12720	0.802000	0.32245	0.991000	0.79684	0.011000	0.13264	1.064000	0.40671	0.561000	0.74099	CGG		0.448	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
ZNF345	25850	broad.mit.edu	37	19	37369179	37369179	+	Missense_Mutation	SNP	G	G	A	rs138152300		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37369179G>A	ENST00000529555.1	+	2	2235	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.E483K|ZNF345_ENST00000420450.1_Missense_Mutation_p.E483K|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	483					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E483K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAACTCTGCGAATTGGAAAC	0.338																																					p.E483K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1447A	19						.						57.0	63.0	61.0					19																	37369179		2202	4300	6502	42061019	SO:0001583	missense	25850	exon3			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1447G>A	19.37:g.37369179G>A	ENSP00000431202:p.Glu483Lys		42061019	NM_003419		Missense_Mutation	SNP	ENST00000529555.1	37	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	1.953	-0.440835	0.04636	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.06768	3.26;3.26	3.0	-0.563	0.11778	.	.	.	.	.	T	0.06508	0.0167	L	0.45422	1.42	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42599	-0.9442	9	0.22109	T	0.4	.	5.3132	0.15841	0.4585:0.0:0.5415:0.0	.	483	Q14585	ZN345_HUMAN	K	483;483;247	ENSP00000431216:E483K;ENSP00000431202:E483K	ENSP00000442320:E247K	E	+	1	0	ZNF345	42061019	0.021000	0.18746	0.004000	0.12327	0.054000	0.15201	0.070000	0.14573	-0.036000	0.13669	-0.150000	0.13652	GAA		0.338	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
ZNF829	374899	broad.mit.edu	37	19	37382494	37382494	+	Missense_Mutation	SNP	C	C	A	rs369348025		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37382494C>A	ENST00000391711.3	-	6	1563	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.R481I|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R400I(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTGTGAATTCTCTGATGTCG	0.403																																					p.R400I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1199T	19						.	C	ILE/ARG,ILE/ARG	0,4404		0,0,2202	69.0	72.0	71.0		1199,1442	0.9	1.0	19		71	2,8592	2.2+/-6.3	0,2,4295	no	missense,missense	ZNF829	NM_001037232.3,NM_001171979.1	97,97	0,2,6497	AA,AC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	400/433,481/514	37382494	2,12996	2202	4297	6499	42074334	SO:0001583	missense	374899	exon6			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1199G>T	19.37:g.37382494C>A	ENSP00000429266:p.Arg400Ile		42074334	NM_001037232	Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882601	0.51908	0.0	2.33E-4	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.24908	1.83	3.05	0.902	0.19290	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29749	0.0743	L	0.61218	1.895	0.37197	D	0.904196	D	0.53619	0.961	P	0.48114	0.567	T	0.31166	-0.9953	9	0.56958	D	0.05	.	8.0617	0.30638	0.0:0.7799:0.0:0.2201	.	400	Q3KNS6	ZN829_HUMAN	I	400	ENSP00000429266:R400I	ENSP00000429266:R400I	R	-	2	0	ZNF829	42074334	0.000000	0.05858	1.000000	0.80357	0.975000	0.68041	-1.041000	0.03542	0.327000	0.23409	-0.262000	0.10625	AGA		0.403	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232	
ZNF568	374900	broad.mit.edu	37	19	37441367	37441367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37441367C>T	ENST00000333987.7	+	7	1818	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ZNF568_ENST00000415168.1_Nonsense_Mutation_p.R374*|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R438*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGTACATATGCGAAATCATAC	0.388																																					p.R438X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1312T	19						.						71.0	79.0	76.0					19																	37441367		2202	4298	6500	42133207	SO:0001587	stop_gained	374900	exon7			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1312C>T	19.37:g.37441367C>T	ENSP00000334685:p.Arg438*		42133207	NM_198539	B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	35	5.458939	0.96240	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	4.09	0.518	0.17030	.	0.000000	0.37761	N	0.001955	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.032	0.19684	0.52:0.3325:0.0:0.1475	.	.	.	.	X	438;374	.	ENSP00000334685:R438X	R	+	1	2	ZNF568	42133207	0.000000	0.05858	0.092000	0.20876	0.790000	0.44656	-0.074000	0.11450	-0.089000	0.12484	-0.457000	0.05445	CGA		0.388	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
ZNF585A	199704	broad.mit.edu	37	19	37643328	37643328	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37643328C>A	ENST00000356958.4	-	5	1731	c.1473G>T	c.(1471-1473)gaG>gaT	p.E491D	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E436D|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E436D|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E436D(2)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATAAGATTTCTCTCCTGTAT	0.413																																					p.E436D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1308T	19						.						70.0	71.0	70.0					19																	37643328		2201	4295	6496	42335168	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1473G>T	19.37:g.37643328C>A	ENSP00000349440:p.Glu491Asp		42335168	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	9.759	1.169639	0.21621	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.26810	1.71;1.71;1.71	2.85	0.61	0.17580	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37715	N	0.001961	T	0.43478	0.1249	.	.	.	0.80722	D	1	D	0.60160	0.987	D	0.77557	0.99	T	0.22800	-1.0206	9	0.59425	D	0.04	.	6.5931	0.22658	0.0:0.7391:0.0:0.2609	.	491	Q6P3V2	Z585A_HUMAN	D	491;436;436	ENSP00000349440:E491D;ENSP00000292841:E436D;ENSP00000375998:E436D	ENSP00000292841:E436D	E	-	3	2	ZNF585A	42335168	0.430000	0.25538	0.436000	0.26797	0.043000	0.13939	-0.228000	0.09114	0.088000	0.17205	-0.140000	0.14226	GAG		0.413	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585A	199704	broad.mit.edu	37	19	37643397	37643397	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37643397G>A	ENST00000356958.4	-	5	1662	c.1404C>T	c.(1402-1404)tgC>tgT	p.C468C	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Silent_p.C413C|ZNF585A_ENST00000292841.5_Silent_p.C413C|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C413C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACATTTATTGCACATATAGG	0.393																																					p.C413C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1239T	19						.						125.0	120.0	122.0					19																	37643397		2203	4300	6503	42335237	SO:0001819	synonymous_variant	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1404C>T	19.37:g.37643397G>A			42335237	NM_199126	Q8TE95|Q96MV3	Silent	SNP	ENST00000356958.4	37																																																																																					0.393	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585A	199704	broad.mit.edu	37	19	37643975	37643975	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37643975C>T	ENST00000356958.4	-	5	1084	c.826G>A	c.(826-828)Gga>Aga	p.G276R	ZNF585A_ENST00000355533.2_Missense_Mutation_p.G221R|ZNF585A_ENST00000392157.2_Missense_Mutation_p.G221R|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G221R|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G221R(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCCTGTCCGCATTCAATA	0.433																																					p.G221R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G661A	19						.						228.0	216.0	220.0					19																	37643975		2203	4300	6503	42335815	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.826G>A	19.37:g.37643975C>T	ENSP00000349440:p.Gly276Arg		42335815	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	C	17.21	3.332878	0.60853	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	3.18	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36703	N	0.002457	T	0.45216	0.1331	M	0.79343	2.45	0.46725	D	0.999177	D	0.89917	1.0	D	0.97110	1.0	T	0.50825	-0.8782	10	0.72032	D	0.01	.	12.1828	0.54221	0.0:1.0:0.0:0.0	.	276	Q6P3V2	Z585A_HUMAN	R	276;221;221;221	ENSP00000349440:G276R;ENSP00000292841:G221R;ENSP00000375998:G221R;ENSP00000347724:G221R	ENSP00000292841:G221R	G	-	1	0	ZNF585A	42335815	0.480000	0.25933	1.000000	0.80357	0.641000	0.38312	2.586000	0.46119	1.769000	0.52152	0.561000	0.74099	GGA		0.433	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF527	84503	broad.mit.edu	37	19	37879916	37879916	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37879916G>T	ENST00000436120.2	+	5	1072	c.965G>T	c.(964-966)aGa>aTa	p.R322I	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R322I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAACATCAAAGAACTCATATT	0.418																																					p.R322I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G965T	19						.						92.0	95.0	94.0					19																	37879916		2155	4277	6432	42571756	SO:0001583	missense	84503	exon5			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.965G>T	19.37:g.37879916G>T	ENSP00000390179:p.Arg322Ile		42571756	NM_032453	B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902575	0.33628	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002277	T	0.50667	0.1629	M	0.64676	1.99	0.44603	D	0.99757	P;P	0.37466	0.596;0.541	B;B	0.33568	0.166;0.064	T	0.57493	-0.7802	9	0.56958	D	0.05	.	9.861	0.41114	0.1004:0.0:0.8996:0.0	.	322;290	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	I	322;290;270	.	ENSP00000325231:R290I	R	+	2	0	ZNF527	42571756	0.000000	0.05858	0.340000	0.25575	0.238000	0.25445	0.538000	0.23160	2.171000	0.68590	0.655000	0.94253	AGA		0.418	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453	
ZNF569	148266	broad.mit.edu	37	19	37903595	37903595	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37903595T>G	ENST00000316950.6	-	6	2522	c.1965A>C	c.(1963-1965)aaA>aaC	p.K655N	ZNF569_ENST00000392149.2_Missense_Mutation_p.K655N|ZNF569_ENST00000392150.2_Missense_Mutation_p.K496N	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	655					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K655N(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACCTGTATGTTTTCTCATAT	0.413																																					p.K655N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1965C	19						.						121.0	123.0	122.0					19																	37903595		2203	4300	6503	42595435	SO:0001583	missense	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1965A>C	19.37:g.37903595T>G	ENSP00000325018:p.Lys655Asn		42595435	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.955093	0.53293	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.20200	2.09;2.09	4.16	0.474	0.16768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003041	T	0.09774	0.0240	N	0.20530	0.585	0.32443	N	0.546517	P;P	0.34412	0.453;0.453	B;B	0.32677	0.15;0.15	T	0.11941	-1.0567	10	0.54805	T	0.06	.	2.2566	0.04057	0.1461:0.1005:0.4103:0.343	.	496;655	Q17RR6;Q5MCW4	.;ZN569_HUMAN	N	655;311;496	ENSP00000325018:K655N;ENSP00000375993:K496N	ENSP00000325018:K655N	K	-	3	2	ZNF569	42595435	0.000000	0.05858	0.999000	0.59377	0.996000	0.88848	-2.312000	0.01127	0.223000	0.20920	0.460000	0.39030	AAA		0.413	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF569	148266	broad.mit.edu	37	19	37904738	37904738	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:37904738T>C	ENST00000316950.6	-	6	1379	c.822A>G	c.(820-822)gaA>gaG	p.E274E	ZNF569_ENST00000392149.2_Silent_p.E274E|ZNF569_ENST00000392150.2_Silent_p.E115E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E274E(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTTCTCACATTCCTTACATG	0.333																																					p.E274E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A822G	19						.						80.0	84.0	83.0					19																	37904738		2203	4300	6503	42596578	SO:0001819	synonymous_variant	148266	exon6			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.822A>G	19.37:g.37904738T>C			42596578	NM_152484	A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	CCDS12503.1																																																																																				0.333	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
ZNF540	163255	broad.mit.edu	37	19	38102601	38102601	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:38102601T>C	ENST00000592533.1	+	5	752	c.420T>C	c.(418-420)agT>agC	p.S140S	ZNF540_ENST00000343599.5_Silent_p.S140S|ZNF540_ENST00000316433.4_Silent_p.S140S|ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000589117.1_Silent_p.S108S	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	140					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.S140S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATCTATCAGTCAAAAGAAAA	0.358																																					p.S140S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T420C	19						.						108.0	118.0	114.0					19																	38102601		2203	4300	6503	42794441	SO:0001819	synonymous_variant	163255	exon5			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.420T>C	19.37:g.38102601T>C			42794441	NM_152606	A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	CCDS12506.1																																																																																				0.358	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606	
ZNF781	163115	broad.mit.edu	37	19	38160733	38160733	+	Missense_Mutation	SNP	C	C	T	rs12460961		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:38160733C>T	ENST00000590008.1	-	5	1169	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	ZNF781_ENST00000593040.1_5'Flank|ZNF781_ENST00000358582.4_Missense_Mutation_p.R106Q|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R106Q(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TCTTTGATGTCGAATAAGATG	0.368																																					p.R106Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317A	19						.						120.0	117.0	118.0					19																	38160733		2203	4300	6503	42852573	SO:0001583	missense	163115	exon4			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.317G>A	19.37:g.38160733C>T	ENSP00000466370:p.Arg106Gln		42852573	NM_152605	Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.403072	0.01165	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.26223	1.75	2.23	-4.45	0.03546	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	L	0.31065	0.9	0.09310	N	1	B	0.30281	0.275	B	0.30029	0.11	T	0.35500	-0.9786	9	0.02654	T	1	.	4.2745	0.10802	0.4025:0.3955:0.0:0.202	rs12460961;rs12460961	106	Q8N8C0	ZN781_HUMAN	Q	106	ENSP00000351391:R106Q	ENSP00000351391:R106Q	R	-	2	0	ZNF781	42852573	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-8.501000	0.00020	-1.354000	0.02188	-1.279000	0.01387	CGA		0.368	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605	
ZNF573	126231	broad.mit.edu	37	19	38230342	38230342	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:38230342C>A	ENST00000590414.2	-	4	1070	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I	ZNF573_ENST00000357309.3_Missense_Mutation_p.R262I|ZNF573_ENST00000339503.4_Missense_Mutation_p.R292I|ZNF573_ENST00000536220.1_Missense_Mutation_p.R262I|ZNF573_ENST00000392138.1_Missense_Mutation_p.R263I			Q86YE8	ZN573_HUMAN	zinc finger protein 573	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R292I(2)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTATGAATTCTCTGATGTAG	0.378																																					p.R348I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1043T	19						.						73.0	73.0	73.0					19																	38230342		2203	4300	6503	42922182	SO:0001583	missense	126231	exon5			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1049G>T	19.37:g.38230342C>A	ENSP00000465020:p.Arg350Ile		42922182	NM_001172691	B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Missense_Mutation	SNP	ENST00000590414.2	37	CCDS59381.1	.	.	.	.	.	.	.	.	.	.	C	9.571	1.121017	0.20877	.	.	ENSG00000189144	ENST00000392138;ENST00000536220;ENST00000357309;ENST00000339503;ENST00000427026	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	2.02	-3.18	0.05186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26557	0.0649	M	0.71920	2.185	0.09310	N	1	P;P;P;P	0.44044	0.65;0.79;0.825;0.79	B;B;B;B	0.44108	0.313;0.313;0.441;0.313	T	0.22730	-1.0208	9	0.62326	D	0.03	.	4.4117	0.11436	0.0:0.5649:0.1818:0.2533	.	263;292;330;262	Q86YE8-4;Q86YE8-3;Q86YE8;Q86YE8-2	.;.;ZN573_HUMAN;.	I	263;262;262;292;262	ENSP00000375983:R263I;ENSP00000440464:R262I;ENSP00000349861:R262I;ENSP00000340171:R292I	ENSP00000340171:R292I	R	-	2	0	ZNF573	42922182	0.000000	0.05858	0.063000	0.19743	0.199000	0.23934	-0.566000	0.05922	-0.346000	0.08312	0.460000	0.39030	AGA		0.378	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360	
RYR1	6261	broad.mit.edu	37	19	38983187	38983187	+	Missense_Mutation	SNP	G	G	A	rs368235923		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:38983187G>A	ENST00000359596.3	+	38	6185	c.6185G>A	c.(6184-6186)cGc>cAc	p.R2062H	RYR1_ENST00000360985.3_Missense_Mutation_p.R2062H|RYR1_ENST00000355481.4_Missense_Mutation_p.R2062H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2062	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R2062H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGGGCAGCCGCCTCATGAGC	0.547																																					p.R2062H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6185A	19						.	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	60.0	59.0	59.0		6185,6185	5.1	1.0	19		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2062/5039,2062/5034	38983187	1,13005	2203	4300	6503	43675027	SO:0001583	missense	6261	exon38			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6185G>A	19.37:g.38983187G>A	ENSP00000352608:p.Arg2062His		43675027	NM_001042723	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	18.67	3.673497	0.67928	0.0	1.16E-4	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72942	-0.7;-0.7;-0.7	5.05	5.05	0.67936	.	0.000000	0.64402	U	0.000006	D	0.84070	0.5391	M	0.86343	2.81	0.40710	D	0.982563	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.925	D	0.86042	0.1520	10	0.51188	T	0.08	.	11.5863	0.50920	0.0878:0.0:0.9122:0.0	.	2062;2062	P21817-2;P21817	.;RYR1_HUMAN	H	2062	ENSP00000352608:R2062H;ENSP00000347667:R2062H;ENSP00000354254:R2062H	ENSP00000347667:R2062H	R	+	2	0	RYR1	43675027	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.274000	0.89889	2.349000	0.79799	0.539000	0.68188	CGC		0.547	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
MAP4K1	11184	broad.mit.edu	37	19	39103297	39103297	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:39103297C>T	ENST00000591517.1	-	9	647	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	MAP4K1_ENST00000586296.1_Missense_Mutation_p.E207K|MAP4K1_ENST00000589130.1_Missense_Mutation_p.E203K|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.E207K|MAP4K1_ENST00000589002.1_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E207K(2)|p.E207*(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCGGCCAGTTCGATGGCCGTG	0.627																																					p.E207K												.	.	4	Substitution - Nonsense(2)|Substitution - Missense(2)	large_intestine(2)|lung(2)	c.G619A	19						.						51.0	57.0	55.0					19																	39103297		2149	4269	6418	43795137	SO:0001583	missense	11184	exon9			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.619G>A	19.37:g.39103297C>T	ENSP00000465039:p.Glu207Lys		43795137	NM_001042600		Missense_Mutation	SNP	ENST00000591517.1	37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656658	0.88154	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.36878	1.23	4.21	4.21	0.49690	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.73063	0.3539	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	D	0.84392	0.0555	10	0.87932	D	0	.	15.3491	0.74368	0.0:1.0:0.0:0.0	.	207;207	Q92918-2;Q92918	.;M4K1_HUMAN	K	207	ENSP00000380066:E207K	ENSP00000221409:E207K	E	-	1	0	MAP4K1	43795137	1.000000	0.71417	0.727000	0.30756	0.657000	0.38888	7.423000	0.80229	1.893000	0.54813	0.462000	0.41574	GAA		0.627	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
CAPN12	147968	broad.mit.edu	37	19	39233699	39233699	+	Missense_Mutation	SNP	C	C	T	rs201968064	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:39233699C>T	ENST00000328867.4	-	2	589	c.281G>A	c.(280-282)cGc>cAc	p.R94H	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	94	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R94H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CACGTCTGTGCGGCTCATGTC	0.567													c|||	3	0.000599042	0.0008	0.0014	5008	,	,		15729	0.001		0.0	False		,,,				2504	0.0				p.R94H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G281A	19						.						86.0	74.0	78.0					19																	39233699		2203	4300	6503	43925539	SO:0001583	missense	147968	exon2			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.281G>A	19.37:g.39233699C>T	ENSP00000331636:p.Arg94His		43925539	NM_144691		Missense_Mutation	SNP	ENST00000328867.4	37	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.373423	0.82573	.	.	ENSG00000182472	ENST00000328867	D	0.92495	-3.05	4.97	4.97	0.65823	Peptidase C2, calpain, catalytic domain (3);	0.135352	0.45867	D	0.000329	D	0.95937	0.8677	M	0.80028	2.48	0.33410	D	0.578514	D	0.89917	1.0	D	0.78314	0.991	D	0.98552	1.0637	10	0.87932	D	0	.	16.0646	0.80863	0.0:1.0:0.0:0.0	.	94	Q6ZSI9	CAN12_HUMAN	H	94	ENSP00000331636:R94H	ENSP00000331636:R94H	R	-	2	0	CAPN12	43925539	0.714000	0.27936	0.978000	0.43139	0.484000	0.33280	6.903000	0.75703	2.479000	0.83701	0.457000	0.33378	CGC		0.567	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1		
HNRNPL	3191	broad.mit.edu	37	19	39336683	39336683	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:39336683T>C	ENST00000221419.5	-	3	800	c.434A>G	c.(433-435)gAa>gGa	p.E145G	HNRNPL_ENST00000600873.1_Missense_Mutation_p.E12G|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	145	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.E12G(1)|p.E145G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CAACACATCTTCAAACTCCAC	0.478																																					p.E12G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A35G	19						.						110.0	107.0	108.0					19																	39336683		2203	4300	6503	44028523	SO:0001583	missense	3191	exon3			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.434A>G	19.37:g.39336683T>C	ENSP00000221419:p.Glu145Gly		44028523	NM_001005335	A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501912	0.85176	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049075	0.85682	D	0.000000	T	0.65512	0.2698	L	0.60455	1.87	0.58432	D	0.999999	P	0.52842	0.956	P	0.53006	0.715	T	0.69312	-0.5178	9	0.66056	D	0.02	.	14.3754	0.66869	0.0:0.0:0.0:1.0	.	145	P14866	HNRPL_HUMAN	G	145;12;12;12;73	.	ENSP00000221419:E145G	E	-	2	0	HNRNPL	44028523	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.218000	0.72224	2.054000	0.61138	0.379000	0.24179	GAA		0.478	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
CLC	1178	broad.mit.edu	37	19	40224969	40224969	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:40224969C>T	ENST00000221804.4	-	3	332	c.257G>A	c.(256-258)gGc>gAc	p.G86D		NM_001828.5	NP_001819.2	Q05315	LEG10_HUMAN	Charcot-Leyden crystal galectin	86	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				multicellular organismal development (GO:0007275)|regulation of activated T cell proliferation (GO:0046006)|regulation of T cell anergy (GO:0002667)|regulation of T cell cytokine production (GO:0002724)|T cell apoptotic process (GO:0070231)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)	p.G86D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		AAATTCTTGGCCATCCTGAAA	0.547																																					p.G86D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	19						.						185.0	150.0	161.0					19																	40224969		2203	4300	6503	44916809	SO:0001583	missense	1178	exon3			L01664	CCDS33025.1	19q13.1	2013-06-12	2013-06-12		ENSG00000105205	ENSG00000105205		"""Lectins, galactoside-binding"""	2014	protein-coding gene	gene with protein product	"""eosinophil lysophospholipase"", ""lysolecithin acylhydrolase"", ""galectin 10"", ""lectin, galactoside-binding, soluble, 10"""	153310	"""Charcot-Leyden crystal protein"""			1577491, 11834744	Standard	NM_001828		Approved	LGALS10, MGC149659, Gal-10	uc002omh.3	Q05315		ENST00000221804.4:c.257G>A	19.37:g.40224969C>T	ENSP00000221804:p.Gly86Asp		44916809	NM_001828	C5HZ13|C5HZ14|Q0VDE3	Missense_Mutation	SNP	ENST00000221804.4	37	CCDS33025.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042506	0.35989	.	.	ENSG00000105205	ENST00000221804	T	0.26223	1.75	1.22	1.22	0.21188	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.46964	0.1420	M	0.88906	2.99	0.09310	N	1	D	0.61080	0.989	P	0.59825	0.864	T	0.27088	-1.0084	9	0.66056	D	0.02	.	5.704	0.17899	0.0:1.0:0.0:0.0	.	86	Q05315	LPPL_HUMAN	D	86	ENSP00000221804:G86D	ENSP00000221804:G86D	G	-	2	0	CLC	44916809	0.003000	0.15002	0.052000	0.19188	0.096000	0.18686	-0.032000	0.12266	0.608000	0.30000	0.187000	0.17357	GGC		0.547	CLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465225.1	NM_001828	
ZNF546	339327	broad.mit.edu	37	19	40520895	40520895	+	Missense_Mutation	SNP	G	G	A	rs575485781		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:40520895G>A	ENST00000347077.4	+	7	1934	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q	ZNF546_ENST00000600094.1_Missense_Mutation_p.R547Q|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R573Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACACCAGCGAATTCACACC	0.363													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21744	0.0		0.0	False		,,,				2504	0.0				p.R573Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1718A	19						.						56.0	56.0	56.0					19																	40520895		2203	4300	6503	45212735	SO:0001583	missense	339327	exon7			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1718G>A	19.37:g.40520895G>A	ENSP00000339823:p.Arg573Gln		45212735	NM_178544	A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	12.69	2.012404	0.35511	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.09445	2.98	3.0	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11281	0.0275	M	0.64567	1.98	0.23816	N	0.996761	B	0.16802	0.019	B	0.15484	0.013	T	0.27536	-1.0071	9	0.62326	D	0.03	.	3.886	0.09099	0.129:0.0:0.6364:0.2346	.	573	Q86UE3	ZN546_HUMAN	Q	573;182	ENSP00000339823:R573Q	ENSP00000339823:R573Q	R	+	2	0	ZNF546	45212735	0.000000	0.05858	0.996000	0.52242	0.823000	0.46562	-0.185000	0.09684	0.822000	0.34565	-0.137000	0.14449	CGA		0.363	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544	
ZNF780B	163131	broad.mit.edu	37	19	40542375	40542375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:40542375G>A	ENST00000434248.1	-	5	456	c.391C>T	c.(391-393)Cga>Tga	p.R131*	ZNF780B_ENST00000221355.6_De_novo_Start_OutOfFrame	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R131*(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTCCCTGTCGTCCCTCAAAT	0.353																																					p.R131X												.	.	4	Substitution - Nonsense(4)	large_intestine(2)|endometrium(2)	c.C391T	19						.						87.0	87.0	87.0					19																	40542375		2109	4254	6363	45234215	SO:0001587	stop_gained	163131	exon5			AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.391C>T	19.37:g.40542375G>A	ENSP00000391641:p.Arg131*		45234215	NM_001005851	B9EH00	Nonsense_Mutation	SNP	ENST00000434248.1	37	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229483	0.39399	.	.	ENSG00000128000	ENST00000434248	.	.	.	2.44	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	7.8752	0.29589	0.0:0.0:0.7551:0.2449	.	.	.	.	X	131	.	ENSP00000391641:R131X	R	-	1	2	ZNF780B	45234215	0.002000	0.14202	0.002000	0.10522	0.087000	0.18053	0.794000	0.26958	1.188000	0.43014	0.313000	0.20887	CGA		0.353	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851	
SPTBN4	57731	broad.mit.edu	37	19	41071391	41071391	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:41071391C>T	ENST00000352632.3	+	28	6064	c.5978C>T	c.(5977-5979)gCg>gTg	p.A1993V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1993V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A736V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1993V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1993					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1993V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGCTGGAGGCGCGGGTGCCT	0.637																																					p.A1993V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5978T	19						.						63.0	64.0	64.0					19																	41071391		2203	4300	6503	45763231	SO:0001583	missense	57731	exon28			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5978C>T	19.37:g.41071391C>T	ENSP00000263373:p.Ala1993Val		45763231	NM_020971	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813176	0.70912	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025	T;T;T	0.55234	0.53;0.53;0.53	4.54	4.54	0.55810	.	0.199731	0.30830	U	0.008782	T	0.50616	0.1626	M	0.74467	2.265	0.80722	D	1	P;P	0.51351	0.915;0.944	B;B	0.35727	0.148;0.209	T	0.63778	-0.6560	10	0.54805	T	0.06	.	16.2652	0.82574	0.0:1.0:0.0:0.0	.	736;1993	C9JY79;Q9H254	.;SPTN4_HUMAN	V	1993;1993;1993;736	ENSP00000263373:A1993V;ENSP00000340345:A1993V;ENSP00000375879:A736V	ENSP00000340345:A1993V	A	+	2	0	SPTBN4	45763231	1.000000	0.71417	0.846000	0.33378	0.788000	0.44548	5.821000	0.69257	2.385000	0.81259	0.549000	0.68633	GCG		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		
CEACAM21	90273	broad.mit.edu	37	19	42091814	42091814	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:42091814C>A	ENST00000401445.2	+	5	842	c.816C>A	c.(814-816)gaC>gaA	p.D272E	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_Missense_Mutation_p.D144E|CEACAM21_ENST00000187608.9_Missense_Mutation_p.D271E			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	272						integral component of membrane (GO:0016021)		p.D272E(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ATCAGAGTGACTTCAGGGAGC	0.547																																					p.D271E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C813A	19						.						62.0	72.0	69.0					19																	42091814		2184	4297	6481	46783654	SO:0001583	missense	90273	exon5			AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.816C>A	19.37:g.42091814C>A	ENSP00000385739:p.Asp272Glu		46783654	NM_033543	B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	C	6.040	0.375664	0.11409	.	.	ENSG00000007129	ENST00000407170;ENST00000187608;ENST00000401445	T;T;T	0.33865	2.72;1.44;1.39	1.18	-0.843	0.10744	.	.	.	.	.	T	0.51415	0.1673	M	0.79805	2.47	0.09310	N	1	D;D	0.71674	0.998;0.996	D;D	0.68621	0.959;0.91	T	0.38329	-0.9666	9	0.34782	T	0.22	.	3.9143	0.09216	0.0:0.6511:0.0:0.3489	.	271;272	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	E	144;271;272	ENSP00000384380:D144E;ENSP00000187608:D271E;ENSP00000385739:D272E	ENSP00000187608:D271E	D	+	3	2	CEACAM21	46783654	0.005000	0.15991	0.003000	0.11579	0.152000	0.21847	0.110000	0.15437	-0.122000	0.11766	0.123000	0.15791	GAC		0.547	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543	
PSG3	5671	broad.mit.edu	37	19	43233329	43233329	+	Missense_Mutation	SNP	G	G	A	rs149820484	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:43233329G>A	ENST00000327495.5	-	5	1373	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG3_ENST00000595140.1_Missense_Mutation_p.R397C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	397	Ig-like C2-type 3.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R397C(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.448																																					p.R397C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C1189T	19						.						177.0	181.0	179.0					19																	43233329		2203	4298	6501	47925169	SO:0001583	missense	5671	exon5				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1189C>T	19.37:g.43233329G>A	ENSP00000332215:p.Arg397Cys		47925169	NM_021016	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	9.917	1.211035	0.22289	.	.	ENSG00000221826	ENST00000327495	T	0.13778	2.56	1.11	-0.624	0.11552	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33585	0.0868	M	0.86805	2.84	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.997	P;D;D	0.68192	0.893;0.95;0.956	T	0.10132	-1.0643	9	0.87932	D	0	.	4.3446	0.11126	0.0:0.4341:0.5659:0.0	.	321;397;397	Q08266;P11464-2;Q16557	.;.;PSG3_HUMAN	C	397	ENSP00000332215:R397C	ENSP00000332215:R397C	R	-	1	0	PSG3	47925169	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.684000	0.05173	0.549000	0.28973	0.393000	0.25936	CGT		0.448	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016	
PSG8	440533	broad.mit.edu	37	19	43268068	43268068	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:43268068G>A	ENST00000306511.4	-	2	527	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	PSG8_ENST00000404209.4_Splice_Site_p.L144L|PSG8_ENST00000401467.2_Splice_Site_p.P144S|PSG8_ENST00000406636.3_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	144	Ig-like V-type.					extracellular region (GO:0005576)		p.L144L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AATCACTCACGATATAAGGTG	0.498																																					p.L144L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C430T	19						.						269.0	268.0	268.0					19																	43268068		2203	4299	6502	47959908	SO:0001630	splice_region_variant	440533	exon2			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.430+1C>T	19.37:g.43268068G>A			47959908	NM_182707	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	3.057	-0.193992	0.06259	.	.	ENSG00000124467	ENST00000401467;ENST00000407488	T	0.07567	3.18	1.35	0.266	0.15617	.	.	.	.	.	T	0.04318	0.0119	.	.	.	0.09310	N	1	B;B	0.21309	0.054;0.005	B;B	0.20184	0.028;0.003	T	0.45731	-0.9241	7	.	.	.	.	3.646	0.08186	0.2608:0.0:0.7392:0.0	.	144;144	B5MCQ0;E7ENH0	.;.	S	144	ENSP00000386090:P144S	.	P	-	1	0	PSG8	47959908	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-1.840000	0.01684	0.143000	0.18926	0.184000	0.17185	CCG		0.498	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		Silent
PSG1	5669	broad.mit.edu	37	19	43383700	43383700	+	Missense_Mutation	SNP	G	G	A	rs143342076		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:43383700G>A	ENST00000436291.2	-	1	150	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	PSG1_ENST00000312439.6_Missense_Mutation_p.R12C|PSG1_ENST00000403380.3_Missense_Mutation_p.R12C|PSG1_ENST00000595124.1_Missense_Mutation_p.R12C|PSG1_ENST00000595356.1_Missense_Mutation_p.R12C|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000244296.2_Missense_Mutation_p.R12C	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	12					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R12C(2)|p.R12S(2)		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)				CATTTGATGCGCTGTGTGCAG	0.572																																					p.R12C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C34T	19						.						182.0	158.0	167.0					19																	43383700		1510	2707	4217	48075540	SO:0001583	missense	5669	exon1				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.34C>T	19.37:g.43383700G>A	ENSP00000413041:p.Arg12Cys		48075540	NM_006905	O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	4.850	0.158066	0.09236	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.35236	1.32;5.88;1.32;1.36	1.64	0.549	0.17213	.	.	.	.	.	T	0.22859	0.0552	N	0.03903	-0.33	0.09310	N	1	D;B;D;D;B;B;B;D;B	0.65815	0.995;0.002;0.987;0.986;0.005;0.009;0.007;0.991;0.056	P;B;P;P;B;B;B;P;B	0.55455	0.776;0.001;0.502;0.556;0.002;0.001;0.003;0.549;0.027	T	0.08432	-1.0722	9	0.35671	T	0.21	.	3.992	0.09541	0.2332:0.0:0.7668:0.0	.	12;12;12;12;12;12;12;12;12	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	C	12	ENSP00000413041:R12C;ENSP00000385386:R12C;ENSP00000308970:R12C;ENSP00000244296:R12C	ENSP00000244296:R12C	R	-	1	0	PSG1	48075540	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.800000	0.04555	0.261000	0.21753	0.184000	0.17185	CGC		0.572	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		
PSG11	5680	broad.mit.edu	37	19	43528843	43528843	+	Splice_Site	SNP	G	G	A	rs369193836	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:43528843G>A	ENST00000401740.1	-	2	533	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Splice_Site_p.L144L			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	144	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L144L(1)|p.L144M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				AATCACTTACGGTATAAGGTG	0.512													.|||	2	0.000399361	0.0015	0.0	5008	,	,		19584	0.0		0.0	False		,,,				2504	0.0				p.L144L												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C430T	19						.	G	,,	3,4397	6.2+/-15.9	0,3,2197	134.0	126.0	128.0		,430,	0.9	0.3	19		128	0,8588		0,0,4294	no	intron,coding-synonymous-near-splice,intron	PSG11	NM_001113410.1,NM_002785.2,NM_203287.1	,,	0,3,6491	AA,AG,GG		0.0,0.0682,0.0231	,,	,144/336,	43528843	3,12985	2200	4294	6494	48220683	SO:0001630	splice_region_variant	5675	exon2			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.430+1C>T	19.37:g.43528843G>A			48220683	NM_002785	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	CCDS12614.2																																																																																				0.512	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785	Silent
PSG5	5673	broad.mit.edu	37	19	43679376	43679376	+	Missense_Mutation	SNP	C	C	T	rs17406362		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:43679376C>T	ENST00000366175.3	-	4	1085	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Missense_Mutation_p.E319K|PSG5_ENST00000407356.1_Missense_Mutation_p.E319K|PSG5_ENST00000599812.1_Missense_Mutation_p.E412K|PSG5_ENST00000342951.6_Missense_Mutation_p.E319K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	319					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E319K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CCAGAGACTTCGACTGTCATG	0.453																																					p.E319K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G955A	19						.						121.0	145.0	137.0					19																	43679376		2201	4294	6495	48371216	SO:0001583	missense	5673	exon4				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.955G>A	19.37:g.43679376C>T	ENSP00000382334:p.Glu319Lys		48371216	NM_001130014	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	c	0.628	-0.818378	0.02776	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	1.25	0.0295	0.14163	Immunoglobulin-like fold (1);	.	.	.	.	T	0.04770	0.0129	N	0.04387	-0.21	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43925	-0.9361	9	0.18276	T	0.48	.	3.4204	0.07392	0.0:0.2698:0.0:0.7302	.	319	Q15238	PSG5_HUMAN	K	319	ENSP00000382334:E319K;ENSP00000386008:E319K;ENSP00000344413:E319K;ENSP00000385250:E319K	ENSP00000344413:E319K	E	-	1	0	PSG5	48371216	0.000000	0.05858	0.014000	0.15608	0.008000	0.06430	-0.342000	0.07801	-0.329000	0.08527	-1.499000	0.00960	GAA		0.453	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781	
PSG9	5678	broad.mit.edu	37	19	43772263	43772263	+	Missense_Mutation	SNP	C	C	T	rs201408508	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:43772263C>T	ENST00000270077.3	-	2	199	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	PSG9_ENST00000596730.1_Missense_Mutation_p.E35K|PSG9_ENST00000443718.3_Missense_Mutation_p.E35K|PSG9_ENST00000418820.2_Missense_Mutation_p.E35K|PSG9_ENST00000291752.5_Missense_Mutation_p.E35K|PSG9_ENST00000593948.1_Missense_Mutation_p.E35K|PSG9_ENST00000244293.7_Missense_Mutation_p.E35K	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	35	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.E35K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ATCGTGACTTCGGCAGTGGTG	0.483													C|||	3	0.000599042	0.0	0.0043	5008	,	,		18001	0.0		0.0	False		,,,				2504	0.0				p.E35K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G103A	19						.	C	LYS/GLU	0,4406		0,0,2203	128.0	128.0	128.0		103	0.5	0.8	19		128	1,8599		0,1,4299	no	missense	PSG9	NM_002784.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	35/427	43772263	1,13005	2203	4300	6503	48464103	SO:0001583	missense	5678	exon2			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.103G>A	19.37:g.43772263C>T	ENSP00000270077:p.Glu35Lys		48464103	NM_002784	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	CCDS12618.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	g	11.52	1.662601	0.29515	0.0	1.16E-4	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000244293	T;T;T;T	0.42513	0.97;2.49;2.79;1.81	1.56	0.465	0.16711	.	.	.	.	.	T	0.14960	0.0361	N	0.03238	-0.38	0.20703	N	0.999867	B;P;B;P;P	0.36315	0.439;0.502;0.376;0.502;0.547	B;B;B;B;B	0.40375	0.23;0.327;0.05;0.164;0.153	T	0.15065	-1.0450	9	0.44086	T	0.13	.	5.845	0.18661	0.0:0.3377:0.6623:0.0	.	35;35;35;35;35	E7EW65;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;PSG9_HUMAN	K	35	ENSP00000270077:E35K;ENSP00000291752:E35K;ENSP00000396753:E35K;ENSP00000244293:E35K	ENSP00000244293:E35K	E	-	1	0	PSG9	48464103	0.002000	0.14202	0.759000	0.31340	0.149000	0.21700	0.941000	0.29005	0.223000	0.20920	-0.748000	0.03510	GAA		0.483	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784	
PLAUR	5329	broad.mit.edu	37	19	44160757	44160757	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:44160757C>T	ENST00000340093.3	-	4	575	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	PLAUR_ENST00000221264.4_Missense_Mutation_p.E116K|PLAUR_ENST00000339082.3_Missense_Mutation_p.E116K|PLAUR_ENST00000601723.1_Missense_Mutation_p.E116K	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	116	UPAR/Ly6 2.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.E116K(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GAAATGCATTCGAGGTAACGG	0.607																																					p.E116K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G346A	19						.						78.0	73.0	75.0					19																	44160757		2203	4300	6503	48852597	SO:0001583	missense	5329	exon4				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.346G>A	19.37:g.44160757C>T	ENSP00000339328:p.Glu116Lys		48852597	NM_001005377	A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551623	0.65311	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.39406	1.08;1.08;1.08	4.55	3.49	0.39957	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);	0.000000	0.42964	D	0.000628	T	0.50752	0.1634	L	0.36672	1.1	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.99;0.99;0.997	T	0.34502	-0.9826	10	0.72032	D	0.01	-5.8212	9.7008	0.40184	0.2072:0.7928:0.0:0.0	.	116;116;116;116	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	K	116	ENSP00000342049:E116K;ENSP00000339328:E116K;ENSP00000221264:E116K	ENSP00000221264:E116K	E	-	1	0	PLAUR	48852597	0.975000	0.34042	0.020000	0.16555	0.092000	0.18411	3.235000	0.51328	1.099000	0.41499	0.462000	0.41574	GAA		0.607	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659	
ZNF283	284349	broad.mit.edu	37	19	44351928	44351928	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:44351928G>A	ENST00000324461.7	+	7	1472	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	ZNF283_ENST00000588797.1_Missense_Mutation_p.R253Q	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R392Q(2)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CAACTTACTCGACATCAGATA	0.373																																					p.R392Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1175A	19						.						96.0	112.0	106.0					19																	44351928		2176	4292	6468	49043768	SO:0001583	missense	284349	exon7			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1175G>A	19.37:g.44351928G>A	ENSP00000327314:p.Arg392Gln		49043768	NM_181845	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	A	6.322	0.427599	0.11987	.	.	ENSG00000167637	ENST00000324461	T	0.07216	3.21	2.99	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	L	0.39245	1.2	0.24684	N	0.993349	D	0.57899	0.981	B	0.42188	0.379	T	0.11817	-1.0572	9	0.07644	T	0.81	.	11.252	0.49031	0.0:0.1876:0.8124:0.0	.	392	Q8N7M2	ZN283_HUMAN	Q	392	ENSP00000327314:R392Q	ENSP00000327314:R392Q	R	+	2	0	ZNF283	49043768	0.000000	0.05858	0.962000	0.40283	0.967000	0.64934	-3.375000	0.00493	1.680000	0.50976	0.462000	0.41574	CGA		0.373	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845	
ZNF225	7768	broad.mit.edu	37	19	44636716	44636716	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:44636716A>C	ENST00000262894.6	+	5	2229	c.1949A>C	c.(1948-1950)aAa>aCa	p.K650T	ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.K650T	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	650					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K650T(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGTAGAGAAAAACTACTTCAA	0.438																																					p.K650T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1949C	19						.						56.0	56.0	56.0					19																	44636716		2162	4281	6443	49328556	SO:0001583	missense	7768	exon5			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1949A>C	19.37:g.44636716A>C	ENSP00000262894:p.Lys650Thr		49328556	NM_013362	A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.036797	0.35893	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.21191	2.02	1.94	0.649	0.17806	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26702	0.0653	M	0.72576	2.205	0.09310	N	1	B	0.19331	0.035	B	0.32980	0.156	T	0.39961	-0.9588	9	0.72032	D	0.01	.	7.5755	0.27933	0.7293:0.2707:0.0:0.0	.	650	Q9UK10	ZN225_HUMAN	T	650;614	ENSP00000262894:K650T	ENSP00000262894:K650T	K	+	2	0	ZNF225	49328556	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.020000	0.12525	0.079000	0.16929	0.459000	0.35465	AAA		0.438	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1		
ZNF112	7771	broad.mit.edu	37	19	44833149	44833149	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:44833149C>A	ENST00000337401.4	-	5	1267	c.1179G>T	c.(1177-1179)gaG>gaT	p.E393D	ZNF112_ENST00000536500.1_Missense_Mutation_p.E410D|ZNF112_ENST00000354340.4_Missense_Mutation_p.E387D	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E387D(1)|p.E393D(1)									TAAAGACATTCTCATTTTCCT	0.353																																					p.E387D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1161T	19						.						88.0	82.0	84.0					19																	44833149		2203	4300	6503	49524989	SO:0001583	missense	7771	exon4			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1179G>T	19.37:g.44833149C>A	ENSP00000337081:p.Glu393Asp		49524989	NM_013380	A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452053	0.26074	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.06142	3.35;3.34;3.35	4.85	3.82	0.43975	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.775194	0.10576	N	0.658548	T	0.04407	0.0121	N	0.12527	0.23	0.22342	N	0.999187	B;B;B	0.26547	0.094;0.152;0.094	B;B;B	0.26310	0.031;0.068;0.031	T	0.30060	-0.9991	10	0.39692	T	0.17	-3.2488	9.1687	0.37067	0.0:0.8499:0.0:0.1501	.	392;410;393	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	D	393;393;387;410;392	ENSP00000337081:E393D;ENSP00000346305:E387D;ENSP00000441990:E410D	ENSP00000253426:E392D	E	-	3	2	ZNF285	49524989	0.000000	0.05858	0.923000	0.36655	0.894000	0.52154	0.059000	0.14322	2.687000	0.91594	0.561000	0.74099	GAG		0.353	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380	
ZNF229	7772	broad.mit.edu	37	19	44933249	44933249	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:44933249C>A	ENST00000588931.1	-	6	2140	c.1707G>T	c.(1705-1707)gaG>gaT	p.E569D	ZNF229_ENST00000291187.4_Missense_Mutation_p.E563D|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E569D(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TATAGGGTTTCTCTCCTGTGT	0.572																																					p.E569D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1707T	19						.						57.0	62.0	60.0					19																	44933249		2193	4299	6492	49625089	SO:0001583	missense	7772	exon6			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1707G>T	19.37:g.44933249C>A	ENSP00000466519:p.Glu569Asp		49625089	NM_014518	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275949	0.59649	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.5	3.5	0.40072	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35653	0.0939	L	0.35793	1.09	0.26284	N	0.978224	P	0.45044	0.849	P	0.48141	0.568	T	0.12915	-1.0529	8	0.59425	D	0.04	.	9.0127	0.36150	0.0:0.8864:0.0:0.1136	.	569	Q9UJW7	ZN229_HUMAN	D	569	.	ENSP00000291187:E569D	E	-	3	2	ZNF229	49625089	0.912000	0.30974	0.790000	0.31976	0.891000	0.51852	0.033000	0.13754	1.677000	0.50941	0.609000	0.83330	GAG		0.572	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518	
ZNF180	7733	broad.mit.edu	37	19	44980824	44980824	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:44980824C>A	ENST00000221327.4	-	5	2155	c.1874G>T	c.(1873-1875)aGa>aTa	p.R625I	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.R598I|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.R600I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R625I(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTCTGATGTTG	0.408																																					p.R625I	Esophageal Squamous(180;1353 2003 32862 46574 49854)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1874T	19						.						127.0	126.0	126.0					19																	44980824		2203	4300	6503	49672664	SO:0001583	missense	7733	exon5			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1874G>T	19.37:g.44980824C>A	ENSP00000221327:p.Arg625Ile		49672664	NM_013256	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629521	0.67015	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.66	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149145	0.31404	N	0.007702	T	0.48205	0.1487	M	0.78916	2.43	0.80722	D	1	D;D;D	0.58970	0.981;0.984;0.984	P;P;P	0.60949	0.81;0.881;0.881	T	0.54118	-0.8341	10	0.87932	D	0	-19.4229	13.2888	0.60258	0.0:0.9224:0.0:0.0776	.	600;624;625	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	625;600	ENSP00000221327:R625I;ENSP00000375818:R600I	ENSP00000221327:R625I	R	-	2	0	ZNF180	49672664	0.000000	0.05858	1.000000	0.80357	0.970000	0.65996	0.012000	0.13287	1.399000	0.46721	0.591000	0.81541	AGA		0.408	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
PVR	5817	broad.mit.edu	37	19	45150790	45150790	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:45150790C>T	ENST00000425690.3	+	2	674	c.375C>T	c.(373-375)ttC>ttT	p.F125F	PVR_ENST00000406449.4_Silent_p.F125F|PVR_ENST00000344956.4_Silent_p.F125F|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Silent_p.F125F	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	125	Ig-like V-type.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)	p.F125F(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCTGCCTGTTCGTCACGTTCC	0.602																																					p.F125F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C375T	19						.						50.0	46.0	48.0					19																	45150790		2203	4300	6503	49842630	SO:0001819	synonymous_variant	5817	exon2			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.375C>T	19.37:g.45150790C>T			49842630	NM_001135768	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP	ENST00000425690.3	37	CCDS12640.1																																																																																				0.602	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505	
CLPTM1	1209	broad.mit.edu	37	19	45477740	45477740	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:45477740C>A	ENST00000337392.5	+	4	504	c.354C>A	c.(352-354)ttC>ttA	p.F118L	CLPTM1_ENST00000541297.2_Missense_Mutation_p.F104L|CLPTM1_ENST00000546079.1_Missense_Mutation_p.F16L	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TTACAGACTTCAACGCCACGT	0.562																																					p.F118L												.	.	0			c.C354A	19						.						155.0	122.0	133.0					19																	45477740		2203	4300	6503	50169580	SO:0001583	missense	1209	exon4			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.354C>A	19.37:g.45477740C>A	ENSP00000336994:p.Phe118Leu		50169580	NM_001294	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472106	0.63737	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.28	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.51991	0.1707	L	0.52364	1.645	0.58432	D	0.999991	P;P;P	0.36753	0.513;0.568;0.568	B;B;B	0.43123	0.286;0.409;0.409	T	0.43572	-0.9383	9	0.18276	T	0.48	-42.0297	8.197	0.31402	0.0:0.8249:0.0:0.1751	.	104;118;118	F5H8J3;B3KQH2;O96005	.;.;CLPT1_HUMAN	L	16;104;118;118	.	ENSP00000336994:F118L	F	+	3	2	CLPTM1	50169580	1.000000	0.71417	0.999000	0.59377	0.901000	0.52897	2.130000	0.42064	1.472000	0.48140	0.650000	0.86243	TTC		0.562	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294	
NANOS2	339345	broad.mit.edu	37	19	46417648	46417648	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:46417648C>T	ENST00000341294.2	-	1	388	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	102					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)	p.G102R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CCGGTGGCCCCGCACACGGGA	0.667																																					p.G102R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G304A	19						.						64.0	57.0	60.0					19																	46417648		2203	4300	6503	51109488	SO:0001583	missense	339345	exon1			BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.304G>A	19.37:g.46417648C>T	ENSP00000341021:p.Gly102Arg		51109488	NM_001029861	Q17R30|Q4G0P8	Missense_Mutation	SNP	ENST00000341294.2	37	CCDS33056.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740832	0.69304	.	.	ENSG00000188425	ENST00000341294	T	0.52754	0.65	4.64	4.64	0.57946	Zinc finger, nanos-type (2);	0.073774	0.51477	N	0.000085	T	0.67543	0.2904	M	0.73430	2.235	0.49915	D	0.999833	D	0.89917	1.0	D	0.80764	0.994	T	0.69840	-0.5036	10	0.51188	T	0.08	-2.8284	15.0415	0.71793	0.0:1.0:0.0:0.0	.	102	P60321	NANO2_HUMAN	R	102	ENSP00000341021:G102R	ENSP00000341021:G102R	G	-	1	0	NANOS2	51109488	0.966000	0.33281	0.997000	0.53966	0.568000	0.35870	1.970000	0.40520	2.424000	0.82194	0.484000	0.47621	GGG		0.667	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1		
HIF3A	64344	broad.mit.edu	37	19	46834519	46834519	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:46834519C>T	ENST00000377670.4	+	13	1850	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	HIF3A_ENST00000244303.6_Missense_Mutation_p.P538S|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000339613.2_Missense_Mutation_p.P551S|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.P556S|HIF3A_ENST00000300862.3_Missense_Mutation_p.P605S|HIF3A_ENST00000600383.1_Missense_Mutation_p.P538S	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	607					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P605S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCTGCTCTTTCCTCTCAGCCT	0.542																																					p.P607S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1819T	19						.						100.0	76.0	84.0					19																	46834519		2203	4300	6503	51526359	SO:0001583	missense	64344	exon13			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1819C>T	19.37:g.46834519C>T	ENSP00000366898:p.Pro607Ser		51526359	NM_152795	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333274	0.60853	.	.	ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.68181	0.51;-0.3;0.38;0.51;-0.31	4.58	3.55	0.40652	.	5.817810	0.00520	N	0.000181	T	0.56601	0.1996	L	0.29908	0.895	0.30951	N	0.724733	P;B;B;B;B;B	0.35745	0.518;0.384;0.347;0.384;0.235;0.235	B;B;B;B;B;B	0.33339	0.162;0.078;0.094;0.078;0.043;0.043	T	0.51108	-0.8747	10	0.27785	T	0.31	.	8.7302	0.34494	0.0:0.8935:0.0:0.1065	.	556;538;605;551;607;607	F5H884;B4DNA2;Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185	.;.;.;.;HIF3A_HUMAN;.	S	607;607;538;551;551;605;556	ENSP00000366898:P607S;ENSP00000244303:P538S;ENSP00000341877:P551S;ENSP00000300862:P605S;ENSP00000407771:P556S	ENSP00000244302:P607S	P	+	1	0	HIF3A	51526359	0.996000	0.38824	1.000000	0.80357	0.910000	0.53928	0.990000	0.29642	1.070000	0.40811	0.650000	0.86243	CCT		0.542	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3		
PTPRS	5802	broad.mit.edu	37	19	5208051	5208051	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:5208051G>A	ENST00000587303.1	-	36	5759	c.5660C>T	c.(5659-5661)aCg>aTg	p.T1887M	PTPRS_ENST00000348075.2_Missense_Mutation_p.T1849M|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1440M|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1887M|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1867M|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1849M|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1440M|PTPRS_ENST00000372412.4_Missense_Mutation_p.T1888M			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1887	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T1887M(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GAAGACGCCCGTCCTGCCCAC	0.617																																					p.T1887M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5660T	19						.						61.0	47.0	51.0					19																	5208051		2203	4300	6503	5159051	SO:0001583	missense	5802	exon37			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5660C>T	19.37:g.5208051G>A	ENSP00000467537:p.Thr1887Met		5159051	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399242	0.62177	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	2.78	2.78	0.32641	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000002	T	0.65873	0.2733	H	0.98351	4.21	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;1.0;1.0	T	0.80576	-0.1321	10	0.87932	D	0	.	13.6312	0.62196	0.0:0.0:1.0:0.0	.	1469;1440;1444;1849;1887;1482	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	M	1482;1888;1887;1887;1878;1867;1849;1469;1444;1440	ENSP00000361489:T1888M;ENSP00000349932:T1887M;ENSP00000262963:T1867M;ENSP00000269907:T1849M;ENSP00000327313:T1440M	ENSP00000262963:T1867M	T	-	2	0	PTPRS	5159051	1.000000	0.71417	0.994000	0.49952	0.569000	0.35902	9.538000	0.98072	1.397000	0.46682	0.471000	0.43371	ACG		0.617	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
PPP5C	5536	broad.mit.edu	37	19	46888163	46888163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:46888163C>T	ENST00000012443.4	+	7	1004	c.901C>T	c.(901-903)Cga>Tga	p.R301*	AC007193.9_ENST00000599645.1_RNA|PPP5C_ENST00000391919.1_Nonsense_Mutation_p.R173*	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	301	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TCACCTCCTTCGAGGTGAGCT	0.488																																					p.R301X												.	.	0			c.C901T	19						.						82.0	72.0	75.0					19																	46888163		2203	4300	6503	51580003	SO:0001587	stop_gained	5536	exon7				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.901C>T	19.37:g.46888163C>T	ENSP00000012443:p.Arg301*		51580003	NM_006247	Q16722|Q53XV2	Nonsense_Mutation	SNP	ENST00000012443.4	37	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	C	36	5.630759	0.96682	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	.	.	.	4.59	4.59	0.56863	.	0.128394	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.348	10.2238	0.43214	0.1982:0.8018:0.0:0.0	.	.	.	.	X	301;288;173	.	ENSP00000012443:R301X	R	+	1	2	PPP5C	51580003	0.959000	0.32827	1.000000	0.80357	0.227000	0.25037	1.956000	0.40382	2.098000	0.63641	0.491000	0.48974	CGA		0.488	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	
PNMAL1	55228	broad.mit.edu	37	19	46974170	46974170	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:46974170C>T	ENST00000313683.10	-	2	428	c.123G>A	c.(121-123)gaG>gaA	p.E41E	PNMAL1_ENST00000438932.2_Silent_p.E41E|PNMAL1_ENST00000602246.1_Silent_p.E41E	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	41								p.E41E(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		cattcaaggtctcctcaattt	0.542																																					p.E41E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G123A	19						.						81.0	68.0	73.0					19																	46974170		2203	4300	6503	51666010	SO:0001819	synonymous_variant	55228	exon2			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.123G>A	19.37:g.46974170C>T			51666010	NM_018215	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	CCDS33059.1																																																																																				0.542	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215	
PNMAL2	57469	broad.mit.edu	37	19	46997633	46997633	+	Intron	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:46997633C>T	ENST00000377655.2	-	1	734				PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.D364N|AC011484.1_ENST00000377652.3_5'Flank			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTTTCTCGTCGCTCCAGCCC	0.612																																					p.D364N												.	.	0			c.G1090A	19						.						46.0	50.0	49.0					19																	46997633		1971	4134	6105	51689473	SO:0001627	intron_variant	57469	exon1			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+355G>A	19.37:g.46997633C>T			51689473	NM_020709	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37																																																																																					0.612	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709	
ARHGAP35	2909	broad.mit.edu	37	19	47422510	47422510	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:47422510A>C	ENST00000404338.3	+	1	578	c.578A>C	c.(577-579)aAg>aCg	p.K193T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	193					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.K193T(1)									AAAACAAAAAAGCCCATAGTG	0.423																																					p.K193T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A578C	19						.						91.0	86.0	87.0					19																	47422510		1889	4099	5988	52114350	SO:0001583	missense	2909	exon1			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.578A>C	19.37:g.47422510A>C	ENSP00000385720:p.Lys193Thr		52114350	NM_004491	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279100	0.59758	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.75704	-0.96	5.76	5.76	0.90799	.	0.043859	0.85682	D	0.000000	D	0.86171	0.5869	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87888	0.2682	10	0.87932	D	0	-33.359	15.0485	0.71846	1.0:0.0:0.0:0.0	.	193	Q9NRY4-2	.	T	193	ENSP00000385720:K193T	ENSP00000324820:K193T	K	+	2	0	ARHGAP35	52114350	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.339000	0.96797	2.209000	0.71365	0.533000	0.62120	AAG		0.423	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
PLA2G4C	8605	broad.mit.edu	37	19	48578124	48578124	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:48578124G>A	ENST00000599921.1	-	12	1263	c.906C>T	c.(904-906)ggC>ggT	p.G302G	PLA2G4C_ENST00000596510.1_5'Flank|PLA2G4C_ENST00000413144.2_Silent_p.G302G|PLA2G4C_ENST00000354276.3_Silent_p.G302G|PLA2G4C_ENST00000599111.1_Silent_p.G312G			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	302	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.G302G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CAGGCTCACCGCCTTCATCTA	0.547																																					p.G302G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C906T	19						.						156.0	134.0	141.0					19																	48578124		2203	4300	6503	53269936	SO:0001819	synonymous_variant	8605	exon12			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.906C>T	19.37:g.48578124G>A			53269936	NM_001159323	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																				0.547	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
LIG1	3978	broad.mit.edu	37	19	48619177	48619177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:48619177G>A	ENST00000263274.7	-	27	3048	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	LIG1_ENST00000536218.1_Nonsense_Mutation_p.R809*|LIG1_ENST00000427526.2_Nonsense_Mutation_p.R846*|CTC-453G23.5_ENST00000596563.1_RNA|CTC-453G23.5_ENST00000596839.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	877					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.R877*(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCACGGACTCGAATAAACCGA	0.647								Nucleotide excision repair (NER)																													p.R877X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2629T	19						.						45.0	41.0	43.0					19																	48619177		2203	4300	6503	53310989	SO:0001587	stop_gained	3978	exon27				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.2629C>T	19.37:g.48619177G>A	ENSP00000263274:p.Arg877*		53310989	NM_000234	B2RAI8|Q2TB12|Q32P23	Nonsense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	38	7.242937	0.98157	.	.	ENSG00000105486	ENST00000263274;ENST00000427526;ENST00000536218	.	.	.	4.7	3.65	0.41850	.	0.056024	0.64402	D	0.000001	.	.	.	.	.	.	0.40595	D	0.98152	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6107	11.3263	0.49450	0.0918:0.0:0.9082:0.0	.	.	.	.	X	877;846;809	.	ENSP00000263274:R877X	R	-	1	2	LIG1	53310989	0.994000	0.37717	0.035000	0.18076	0.996000	0.88848	4.123000	0.57917	1.109000	0.41680	0.655000	0.94253	CGA		0.647	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
SYNGR4	23546	broad.mit.edu	37	19	48879376	48879376	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:48879376G>A	ENST00000344846.2	+	5	756	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	SYNGR4_ENST00000595322.1_Silent_p.P73P|SYNGR4_ENST00000601610.1_Silent_p.P145P	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	169	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)		p.R169Q(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CAGGACCTCCGAAATGATGCT	0.602																																					p.R169Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G506A	19						.						108.0	100.0	103.0					19																	48879376		2203	4300	6503	53571188	SO:0001583	missense	23546	exon5			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.506G>A	19.37:g.48879376G>A	ENSP00000344041:p.Arg169Gln		53571188	NM_012451	Q3KP58	Missense_Mutation	SNP	ENST00000344846.2	37	CCDS12717.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.278017	0.40294	.	.	ENSG00000105467	ENST00000344846	T	0.48201	0.82	5.61	-1.81	0.07882	Marvel (1);	0.948152	0.08692	N	0.907770	T	0.33789	0.0875	L	0.39566	1.225	0.09310	N	0.999995	B	0.22480	0.07	B	0.10450	0.005	T	0.26155	-1.0111	10	0.18710	T	0.47	-2.6799	9.3572	0.38173	0.4716:0.0:0.5284:0.0	.	169	O95473	SNG4_HUMAN	Q	169	ENSP00000344041:R169Q	ENSP00000344041:R169Q	R	+	2	0	SYNGR4	53571188	0.058000	0.20735	0.014000	0.15608	0.784000	0.44337	0.192000	0.17096	-0.331000	0.08501	-0.378000	0.06908	CGA		0.602	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465704.1		
GRWD1	83743	broad.mit.edu	37	19	48949946	48949946	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:48949946T>G	ENST00000253237.5	+	3	547	c.314T>G	c.(313-315)aTg>aGg	p.M105R		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	105						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		AGACTGATGATGCTTCGGATG	0.512																																					p.M105R												.	.	0			c.T314G	19						.						67.0	50.0	56.0					19																	48949946		2203	4298	6501	53641758	SO:0001583	missense	83743	exon3			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.314T>G	19.37:g.48949946T>G	ENSP00000253237:p.Met105Arg		53641758	NM_031485	Q8TF59	Missense_Mutation	SNP	ENST00000253237.5	37	CCDS12720.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357620	0.41801	.	.	ENSG00000105447	ENST00000253237	T	0.67523	-0.27	4.01	4.01	0.46588	.	0.554792	0.19313	N	0.117350	T	0.52273	0.1724	N	0.14661	0.345	0.42141	D	0.991519	B	0.14805	0.011	B	0.28139	0.086	T	0.55642	-0.8109	10	0.87932	D	0	-5.8396	12.3414	0.55095	0.0:0.0:0.0:1.0	.	105	Q9BQ67	GRWD1_HUMAN	R	105	ENSP00000253237:M105R	ENSP00000253237:M105R	M	+	2	0	GRWD1	53641758	1.000000	0.71417	0.986000	0.45419	0.344000	0.29017	6.552000	0.73914	1.825000	0.53177	0.459000	0.35465	ATG		0.512	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485	
PPP1R15A	23645	broad.mit.edu	37	19	49377187	49377187	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:49377187G>A	ENST00000200453.5	+	2	966	c.697G>A	c.(697-699)Gag>Aag	p.E233K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	233	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.E233K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		TCAAGCCACGGAGGATAAAAG	0.537																																					p.E233K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G697A	19						.						75.0	84.0	81.0					19																	49377187		2203	4300	6503	54068999	SO:0001583	missense	23645	exon2			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.697G>A	19.37:g.49377187G>A	ENSP00000200453:p.Glu233Lys		54068999	NM_014330	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267848	0.80469	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.09163	3.01	4.04	4.04	0.47022	.	0.896444	0.09522	N	0.790754	T	0.23054	0.0557	L	0.43923	1.385	0.34377	D	0.692649	D	0.67145	0.996	P	0.60541	0.876	T	0.13629	-1.0502	10	0.72032	D	0.01	-7.8722	11.8954	0.52654	0.0:0.0:1.0:0.0	.	233	O75807	PR15A_HUMAN	K	233;73;191	ENSP00000200453:E233K	ENSP00000200453:E233K	E	+	1	0	PPP1R15A	54068999	0.279000	0.24239	0.226000	0.23910	0.136000	0.21042	0.802000	0.27069	2.276000	0.75962	0.561000	0.74099	GAG		0.537	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330	
SLC17A7	57030	broad.mit.edu	37	19	49934662	49934662	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:49934662C>T	ENST00000221485.3	-	10	1365	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S	SLC17A7_ENST00000543531.1_Silent_p.S386S|SLC17A7_ENST00000600601.1_Silent_p.S331S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	398					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)	p.S398S(1)		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)		CCTTGGAGTGCGAGTAGCCGA	0.687																																					p.S398S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1194A	19						.						43.0	43.0	43.0					19																	49934662		2203	4300	6503	54626474	SO:0001819	synonymous_variant	57030	exon10			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.1194G>A	19.37:g.49934662C>T			54626474	NM_020309	B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	CCDS12764.1																																																																																				0.687	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		
ZNF473	25888	broad.mit.edu	37	19	50550206	50550206	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:50550206C>A	ENST00000595661.1	+	6	3001	c.2506C>A	c.(2506-2508)Cac>Aac	p.H836N	ZNF473_ENST00000391821.2_Missense_Mutation_p.H836N|ZNF473_ENST00000445728.3_Missense_Mutation_p.H824N|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.H836N|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	836					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)	p.H836N(1)		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)		CCTGAGAGTTCACACCCAGGA	0.517											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.H836N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2506A	19						.						69.0	72.0	71.0					19																	50550206		2203	4300	6503	55242018	SO:0001583	missense	25888	exon5			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.2506C>A	19.37:g.50550206C>A	ENSP00000472808:p.His836Asn	970	55242018	NM_001006656	A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069680	0.55539	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.67345	-0.26;-0.26;-0.26	4.38	4.38	0.52667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000344	D	0.85708	0.5759	M	0.93462	3.42	0.53005	D	0.999964	D	0.89917	1.0	D	0.91635	0.999	D	0.89109	0.3495	10	0.87932	D	0	-23.8863	15.2455	0.73504	0.0:1.0:0.0:0.0	.	836	Q8WTR7	ZN473_HUMAN	N	836;836;824	ENSP00000270617:H836N;ENSP00000375697:H836N;ENSP00000388961:H824N	ENSP00000270617:H836N	H	+	1	0	ZNF473	55242018	1.000000	0.71417	0.948000	0.38648	0.476000	0.33039	7.219000	0.78000	2.718000	0.92993	0.655000	0.94253	CAC		0.517	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390	
KLK15	55554	broad.mit.edu	37	19	51329967	51329967	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:51329967C>T	ENST00000598239.1	-	4	558	c.528G>A	c.(526-528)tcG>tcA	p.S176S	KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Intron|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000326856.4_Silent_p.S175S|KLK15_ENST00000596931.1_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	176	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S176S(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AAGATGTGTCCGAGATAATGC	0.557																																					p.S176S	Pancreas(140;10 2513 7143 9246)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G528A	19						.						137.0	124.0	129.0					19																	51329967		2203	4300	6503	56021779	SO:0001819	synonymous_variant	55554	exon4			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.528G>A	19.37:g.51329967C>T			56021779	NM_017509	A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	CCDS12805.1																																																																																				0.557	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509	
KLK15	55554	broad.mit.edu	37	19	51330299	51330299	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:51330299C>T	ENST00000598239.1	-	3	346	c.316G>A	c.(316-318)Gac>Aac	p.D106N	KLK15_ENST00000416184.1_Missense_Mutation_p.D106N|KLK15_ENST00000301421.2_Missense_Mutation_p.D106N|KLK15_ENST00000326856.4_Missense_Mutation_p.D105N|KLK15_ENST00000596931.1_Missense_Mutation_p.D105N	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D106N(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		AACATGATGTCGTTGCGGTGG	0.687																																					p.D106N	Pancreas(140;10 2513 7143 9246)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G316A	19						.						64.0	58.0	60.0					19																	51330299		2202	4300	6502	56022111	SO:0001583	missense	55554	exon3			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.316G>A	19.37:g.51330299C>T	ENSP00000469315:p.Asp106Asn		56022111	NM_017509	A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	34	5.319203	0.95682	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.98747	-5.11;-5.11	4.5	4.5	0.54988	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.49305	D	0.000153	D	0.99174	0.9714	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.97110	0.99;0.987;0.946;1.0	D	0.98971	1.0801	10	0.72032	D	0.01	.	15.0875	0.72165	0.0:1.0:0.0:0.0	.	106;105;106;106	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	N	106	ENSP00000415136:D106N;ENSP00000301421:D106N	ENSP00000301421:D106N	D	-	1	0	KLK15	56022111	1.000000	0.71417	0.068000	0.19968	0.165000	0.22458	5.478000	0.66806	2.514000	0.84764	0.555000	0.69702	GAC		0.687	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509	
KLK5	25818	broad.mit.edu	37	19	51452217	51452217	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:51452217G>A	ENST00000336334.3	-	4	842	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Missense_Mutation_p.R164C|KLK5_ENST00000593428.1_Missense_Mutation_p.R164C|CTB-147C22.8_ENST00000601506.1_RNA	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	164	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.R164C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGTGGGACGAATTCTTCTG	0.547																																					p.R164C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C490T	19						.						105.0	104.0	104.0					19																	51452217		2203	4300	6503	56144029	SO:0001583	missense	25818	exon4			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.490C>T	19.37:g.51452217G>A	ENSP00000337733:p.Arg164Cys		56144029	NM_001077492	Q53ZR3|Q9HBG8	Missense_Mutation	SNP	ENST00000336334.3	37	CCDS12810.1	.	.	.	.	.	.	.	.	.	.	g	9.730	1.161911	0.21538	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.89343	-2.5;-2.5	4.34	-4.16	0.03869	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.850672	0.09600	U	0.780305	T	0.81640	0.4865	M	0.76170	2.325	0.09310	N	1	P	0.39181	0.663	B	0.32677	0.15	T	0.71056	-0.4703	10	0.49607	T	0.09	.	0.1468	0.00089	0.3034:0.1491:0.2448:0.3027	.	164	Q9Y337	KLK5_HUMAN	C	164	ENSP00000337733:R164C;ENSP00000375685:R164C	ENSP00000337733:R164C	R	-	1	0	KLK5	56144029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.000000	0.12993	-0.476000	0.06842	-0.182000	0.12963	CGT		0.547	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427	
KLK6	5653	broad.mit.edu	37	19	51466672	51466672	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:51466672G>A	ENST00000376851.3	-	4	770	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	KLK6_ENST00000594641.1_Missense_Mutation_p.R111C|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000310157.2_Missense_Mutation_p.R111C|KLK6_ENST00000391808.1_Missense_Mutation_p.R4C|KLK6_ENST00000456750.2_Missense_Mutation_p.R4C|CTB-147C22.8_ENST00000601506.1_RNA	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.R111C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CGTGCCAGGCGCAACAGCATG	0.612																																					p.R111C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C331T	19						.						89.0	63.0	72.0					19																	51466672		2203	4300	6503	56158484	SO:0001583	missense	5653	exon4			U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.331C>T	19.37:g.51466672G>A	ENSP00000366047:p.Arg111Cys		56158484	NM_001012964	A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	22.6	4.310413	0.81358	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	4.69	2.44	0.29823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.185873	0.26723	N	0.022831	D	0.94115	0.8113	M	0.93016	3.37	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.74674	0.984;0.733	D	0.85886	0.1425	10	0.87932	D	0	.	5.8461	0.18667	0.0947:0.0:0.5992:0.3061	.	111;4	Q92876;Q92876-2	KLK6_HUMAN;.	C	111;111;4;4	ENSP00000309148:R111C;ENSP00000366047:R111C;ENSP00000375684:R4C;ENSP00000409241:R4C	ENSP00000309148:R111C	R	-	1	0	KLK6	56158484	0.458000	0.25760	0.429000	0.26710	0.895000	0.52256	1.511000	0.35801	1.200000	0.43188	0.486000	0.48141	CGC		0.612	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774	
KLK13	26085	broad.mit.edu	37	19	51563758	51563758	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:51563758C>T	ENST00000595793.1	-	2	213	c.171G>A	c.(169-171)ggG>ggA	p.G57G	KLK13_ENST00000596955.1_Silent_p.G57G|KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Silent_p.G57G	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	57	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.G57G(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		AGAGTAGCCGCCCTTGCACTA	0.622																																					p.G57G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G171A	19						.						75.0	76.0	76.0					19																	51563758		2203	4300	6503	56255570	SO:0001819	synonymous_variant	26085	exon2				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.171G>A	19.37:g.51563758C>T			56255570	NM_015596	A7UNK6|Q86VI8|Q9Y433	Silent	SNP	ENST00000595793.1	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.610159	0.46527	.	.	ENSG00000167759	ENST00000376799	.	.	.	3.88	0.408	0.16377	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56571	-0.7957	5	0.87932	D	0	.	3.0261	0.06091	0.0:0.4179:0.2236:0.3585	.	.	.	.	T	59	.	ENSP00000365995:A59T	A	-	1	0	KLK13	56255570	0.000000	0.05858	0.935000	0.37517	0.974000	0.67602	-0.142000	0.10311	0.362000	0.24319	0.609000	0.83330	GCG		0.622	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596	
SIGLEC10	89790	broad.mit.edu	37	19	51920096	51920096	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:51920096G>T	ENST00000339313.5	-	3	646	c.530C>A	c.(529-531)tCt>tAt	p.S177Y	SIGLEC10_ENST00000525998.1_Missense_Mutation_p.S177Y|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.S177Y|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.S177Y|SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000441969.3_Intron|CTD-2616J11.2_ENST00000532688.1_RNA			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	177	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.S177Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCAGGAGAAAGAAGGGGGTGG	0.602																																					p.S177Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C530A	19						.						93.0	91.0	92.0					19																	51920096		2203	4300	6503	56611908	SO:0001583	missense	89790	exon3			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.530C>A	19.37:g.51920096G>T	ENSP00000345243:p.Ser177Tyr		56611908	NM_001171157	A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	15.01	2.706578	0.48412	.	.	ENSG00000142512	ENST00000353836;ENST00000356298;ENST00000525998;ENST00000339313;ENST00000530476	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	4.69	2.5	0.30297	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.643655	0.14665	N	0.305690	T	0.08758	0.0217	L	0.54323	1.7	0.09310	N	1	D;D;D	0.76494	0.999;0.987;0.989	D;P;P	0.74023	0.982;0.878;0.82	T	0.05338	-1.0891	10	0.02654	T	1	.	7.4805	0.27402	0.2108:0.0:0.7892:0.0	.	177;177;177	E9PL79;Q96LC7-2;Q96LC7	.;.;SIG10_HUMAN	Y	177;177;177;177;144	ENSP00000342389:S177Y;ENSP00000348646:S177Y;ENSP00000431444:S177Y;ENSP00000345243:S177Y;ENSP00000433838:S144Y	ENSP00000345243:S177Y	S	-	2	0	SIGLEC10	56611908	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	0.680000	0.25306	0.959000	0.37980	0.313000	0.20887	TCT		0.602	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130	
ZNF577	84765	broad.mit.edu	37	19	52375823	52375823	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52375823T>G	ENST00000301399.5	-	7	1785	c.1420A>C	c.(1420-1422)Aat>Cat	p.N474H	ZNF577_ENST00000420592.1_Missense_Mutation_p.N415H|ZNF577_ENST00000451628.2_Missense_Mutation_p.N415H|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N467H(1)		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)		AAGATATAATTTATTACTGAT	0.353																																					p.N474H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1420C	19						.						42.0	43.0	43.0					19																	52375823		2202	4300	6502	57067635	SO:0001583	missense	84765	exon7			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.1420A>C	19.37:g.52375823T>G	ENSP00000301399:p.Asn474His		57067635	NM_032679	A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	8.296	0.818900	0.16607	.	.	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.07444	3.19;3.24;3.24;3.19	2.92	1.83	0.25207	.	.	.	.	.	T	0.10121	0.0248	L	0.50333	1.59	0.09310	N	1	P;P	0.41784	0.649;0.762	B;B	0.42422	0.216;0.387	T	0.18650	-1.0330	9	0.87932	D	0	.	6.9147	0.24354	0.0:0.0:0.2365:0.7635	.	474;415	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	H	474;415;415;474	ENSP00000301399:N474H;ENSP00000413476:N415H;ENSP00000389652:N415H;ENSP00000404509:N474H	ENSP00000301399:N474H	N	-	1	0	ZNF577	57067635	0.015000	0.18098	0.421000	0.26609	0.071000	0.16799	1.405000	0.34635	0.296000	0.22592	0.533000	0.62120	AAT		0.353	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679	
ZNF649	65251	broad.mit.edu	37	19	52394434	52394434	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52394434T>C	ENST00000354957.3	-	5	1239	c.955A>G	c.(955-957)Aca>Gca	p.T319A	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.T291A	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCACTGCATGTATGAGGCTTC	0.453																																					p.T319A												.	.	0			c.A955G	19						.						140.0	112.0	121.0					19																	52394434		2203	4300	6503	57086246	SO:0001583	missense	65251	exon5			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.955A>G	19.37:g.52394434T>C	ENSP00000347043:p.Thr319Ala		57086246	NM_023074	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.473633	0.00167	.	.	ENSG00000198093	ENST00000354957	T	0.19532	2.14	2.75	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07908	0.0198	N	0.10916	0.065	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.33214	-0.9877	9	0.28530	T	0.3	.	0.7501	0.00989	0.286:0.3261:0.1448:0.2431	.	319	Q9BS31	ZN649_HUMAN	A	319	ENSP00000347043:T319A	ENSP00000347043:T319A	T	-	1	0	ZNF649	57086246	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.378000	0.02556	-0.620000	0.05641	-0.776000	0.03382	ACA		0.453	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074	
ZNF615	284370	broad.mit.edu	37	19	52496314	52496314	+	Missense_Mutation	SNP	C	C	T	rs200056760		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52496314C>T	ENST00000602063.1	-	6	2364	c.2015G>A	c.(2014-2016)aGa>aAa	p.R672K	ZNF615_ENST00000598071.1_Missense_Mutation_p.R683K|ZNF615_ENST00000594083.1_Missense_Mutation_p.R683K|ZNF615_ENST00000376716.5_Missense_Mutation_p.R672K|ZNF615_ENST00000391795.3_Missense_Mutation_p.R677K			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	672					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R683K(1)|p.R672K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGTGAATTCTCTGATGTGT	0.403																																					p.R672K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2015A	19						.	C	LYS/ARG,LYS/ARG	0,4406		0,0,2203	153.0	149.0	151.0		2048,2015	2.0	0.9	19		151	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	ZNF615	NM_001199324.1,NM_198480.3	26,26	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	683/743,672/732	52496314	3,13003	2203	4300	6503	57188126	SO:0001583	missense	284370	exon6			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2015G>A	19.37:g.52496314C>T	ENSP00000473089:p.Arg672Lys		57188126	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558289	0.65538	0.0	3.49E-4	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.18338	2.22;2.22	3.14	1.96	0.26148	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22085	0.0532	N	0.25094	0.71	0.24242	N	0.995354	D;D;D;D	0.65815	0.995;0.994;0.994;0.995	D;P;P;D	0.65987	0.94;0.901;0.901;0.94	T	0.07673	-1.0760	9	0.51188	T	0.08	.	7.2587	0.26191	0.1823:0.6383:0.1794:0.0	.	677;679;683;672	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	K	672;682;677;626	ENSP00000365906:R672K;ENSP00000375672:R677K	ENSP00000347019:R682K	R	-	2	0	ZNF615	57188126	0.000000	0.05858	0.917000	0.36280	0.998000	0.95712	-0.859000	0.04277	1.752000	0.51891	0.655000	0.94253	AGA		0.403	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
ZNF615	284370	broad.mit.edu	37	19	52497406	52497406	+	Missense_Mutation	SNP	C	C	T	rs368312076		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52497406C>T	ENST00000602063.1	-	6	1272	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	ZNF615_ENST00000598071.1_Missense_Mutation_p.R319Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.R319Q|ZNF615_ENST00000376716.5_Missense_Mutation_p.R308Q|ZNF615_ENST00000391795.3_Missense_Mutation_p.R313Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R319Q(1)|p.R308Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTTCGTTGATGATA	0.428																																					p.R308Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G923A	19						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	139.0	131.0	133.0		956,923	3.2	1.0	19		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF615	NM_001199324.1,NM_198480.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	319/743,308/732	52497406	1,13005	2203	4300	6503	57189218	SO:0001583	missense	284370	exon6			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.923G>A	19.37:g.52497406C>T	ENSP00000473089:p.Arg308Gln		57189218	NM_198480	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622328	0.66787	0.0	1.16E-4	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.24723	1.84;1.84	3.23	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36880	0.0983	L	0.45051	1.395	0.24591	N	0.993822	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.984;0.973;0.973;0.984	T	0.11616	-1.0580	9	0.87932	D	0	.	4.8057	0.13319	0.0:0.6512:0.2251:0.1237	.	313;315;319;308	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Q	308;318;313;318	ENSP00000365906:R308Q;ENSP00000375672:R313Q	ENSP00000347019:R318Q	R	-	2	0	ZNF615	57189218	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.408000	0.07169	1.787000	0.52448	0.650000	0.86243	CGA		0.428	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
ZNF432	9668	broad.mit.edu	37	19	52537355	52537355	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52537355C>T	ENST00000594154.1	-	5	1789	c.1577G>A	c.(1576-1578)aGc>aAc	p.S526N	ZNF432_ENST00000221315.5_Missense_Mutation_p.S526N			O94892	ZN432_HUMAN	zinc finger protein 432	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S526N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AACAAGATTGCTCTTAAAGGC	0.413																																					p.S526N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1577A	19						.						106.0	96.0	100.0					19																	52537355		2203	4300	6503	57229167	SO:0001583	missense	9668	exon5			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1577G>A	19.37:g.52537355C>T	ENSP00000470488:p.Ser526Asn		57229167	NM_014650		Missense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240842	0.39598	.	.	ENSG00000256087	ENST00000221315	T	0.07567	3.18	2.81	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	N	0.17474	0.49	0.09310	N	1	P	0.51791	0.948	P	0.46975	0.533	T	0.28839	-1.0031	9	0.66056	D	0.02	.	3.5933	0.07997	0.2492:0.6137:0.0:0.1371	.	526	O94892	ZN432_HUMAN	N	526	ENSP00000221315:S526N	ENSP00000221315:S526N	S	-	2	0	ZNF432	57229167	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.802000	0.04545	1.577000	0.49804	0.655000	0.94253	AGC		0.413	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	
ZNF432	9668	broad.mit.edu	37	19	52538174	52538174	+	Missense_Mutation	SNP	C	C	A	rs183925976		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52538174C>A	ENST00000594154.1	-	5	970	c.758G>T	c.(757-759)aGa>aTa	p.R253I	ZNF432_ENST00000221315.5_Missense_Mutation_p.R253I			O94892	ZN432_HUMAN	zinc finger protein 432	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R253I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTTATGAATTCTTTGATGTTC	0.383																																					p.R253I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G758T	19						.						93.0	100.0	97.0					19																	52538174		2203	4300	6503	57229986	SO:0001583	missense	9668	exon5			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.758G>T	19.37:g.52538174C>A	ENSP00000470488:p.Arg253Ile		57229986	NM_014650		Missense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.89	1.477704	0.26511	.	.	ENSG00000256087	ENST00000221315	T	0.24908	1.83	2.9	1.84	0.25277	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40272	0.1110	L	0.58810	1.83	0.31466	N	0.668916	D	0.63880	0.993	D	0.69479	0.964	T	0.42816	-0.9429	9	0.72032	D	0.01	.	5.9649	0.19320	0.0:0.6843:0.1953:0.1204	.	253	O94892	ZN432_HUMAN	I	253	ENSP00000221315:R253I	ENSP00000221315:R253I	R	-	2	0	ZNF432	57229986	0.001000	0.12720	1.000000	0.80357	0.967000	0.64934	-0.198000	0.09505	0.550000	0.28991	0.585000	0.79938	AGA		0.383	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	
ZNF432	9668	broad.mit.edu	37	19	52538342	52538342	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52538342C>A	ENST00000594154.1	-	5	802	c.590G>T	c.(589-591)aGa>aTa	p.R197I	ZNF432_ENST00000221315.5_Missense_Mutation_p.R197I			O94892	ZN432_HUMAN	zinc finger protein 432	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R197I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTCATGAGTTCTCTGATGCTT	0.378																																					p.R197I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590T	19						.						82.0	79.0	80.0					19																	52538342		2203	4300	6503	57230154	SO:0001583	missense	9668	exon5			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.590G>T	19.37:g.52538342C>A	ENSP00000470488:p.Arg197Ile		57230154	NM_014650		Missense_Mutation	SNP	ENST00000594154.1	37	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	8.281	0.815564	0.16607	.	.	ENSG00000256087	ENST00000221315	T	0.24908	1.83	3.24	-3.92	0.04155	.	.	.	.	.	T	0.19485	0.0468	L	0.55743	1.74	0.25790	N	0.984621	B	0.02656	0.0	B	0.01281	0.0	T	0.34004	-0.9846	9	0.66056	D	0.02	.	4.0118	0.09626	0.4544:0.3487:0.0:0.1969	.	197	O94892	ZN432_HUMAN	I	197	ENSP00000221315:R197I	ENSP00000221315:R197I	R	-	2	0	ZNF432	57230154	0.000000	0.05858	0.002000	0.10522	0.540000	0.34992	-1.515000	0.02252	-0.850000	0.04152	-0.282000	0.10007	AGA		0.378	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650	
ZNF616	90317	broad.mit.edu	37	19	52618359	52618359	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52618359C>A	ENST00000600228.1	-	4	2319	c.2058G>T	c.(2056-2058)aaG>aaT	p.K686N	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	686					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K686N(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATATGGTTTCTTTCCTGCAT	0.393																																					p.K686N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2058T	19						.						148.0	138.0	142.0					19																	52618359		2203	4300	6503	57310171	SO:0001583	missense	90317	exon4			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2058G>T	19.37:g.52618359C>A	ENSP00000471000:p.Lys686Asn		57310171	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124756	0.37533	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.78	0.682	0.17992	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27169	0.0666	N	0.20530	0.585	0.24466	N	0.994417	B	0.25521	0.128	B	0.30716	0.119	T	0.30238	-0.9985	8	0.66056	D	0.02	.	5.5683	0.17182	0.0:0.6754:0.0:0.3246	.	686	Q08AN1	ZN616_HUMAN	N	686	.	ENSP00000328722:K686N	K	-	3	2	ZNF616	57310171	0.000000	0.05858	0.007000	0.13788	0.760000	0.43138	-0.447000	0.06828	0.081000	0.16988	0.305000	0.20034	AAG		0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF616	90317	broad.mit.edu	37	19	52618711	52618711	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52618711C>T	ENST00000600228.1	-	4	1967	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R569K(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ACTATGAATTCTCCGATGCAC	0.433																																					p.R569K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1706A	19						.						114.0	100.0	105.0					19																	52618711		2203	4300	6503	57310523	SO:0001583	missense	90317	exon4			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1706G>A	19.37:g.52618711C>T	ENSP00000471000:p.Arg569Lys		57310523	NM_178523	B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385492	0.25031	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-1.69	0.08186	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37046	0.0989	L	0.56124	1.755	0.09310	N	1	B	0.26845	0.161	B	0.39027	0.288	T	0.49173	-0.8967	8	0.41790	T	0.15	.	1.4398	0.02352	0.201:0.4383:0.2:0.1607	.	569	Q08AN1	ZN616_HUMAN	K	569	.	ENSP00000328722:R569K	R	-	2	0	ZNF616	57310523	0.000000	0.05858	0.001000	0.08648	0.197000	0.23852	-3.135000	0.00588	-0.472000	0.06881	0.305000	0.20034	AGA		0.433	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892	
ZNF836	162962	broad.mit.edu	37	19	52658138	52658138	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52658138G>T	ENST00000322146.8	-	5	3319	c.2798C>A	c.(2797-2799)tCt>tAt	p.S933Y	ZNF836_ENST00000597252.1_Missense_Mutation_p.S933Y|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	933					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S933Y(1)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTTGAACCCAGAAGTTAGGAG	0.368																																					p.S933Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2798A	19						.						35.0	33.0	34.0					19																	52658138		1952	4162	6114	57349950	SO:0001583	missense	162962	exon5			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.2798C>A	19.37:g.52658138G>T	ENSP00000325038:p.Ser933Tyr		57349950	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	G	3.442	-0.113909	0.06881	.	.	ENSG00000196267	ENST00000322146	T	0.05925	3.37	1.2	-2.4	0.06583	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	P	0.38565	0.637	B	0.21546	0.035	T	0.38178	-0.9673	9	0.51188	T	0.08	.	0.6854	0.00882	0.28:0.1788:0.3613:0.1799	.	933	Q6ZNA1	ZN836_HUMAN	Y	933	ENSP00000325038:S933Y	ENSP00000325038:S933Y	S	-	2	0	ZNF836	57349950	0.001000	0.12720	0.000000	0.03702	0.075000	0.17131	0.249000	0.18216	-1.035000	0.03291	-0.237000	0.12165	TCT		0.368	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF836	162962	broad.mit.edu	37	19	52658711	52658711	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52658711C>A	ENST00000322146.8	-	5	2746	c.2225G>T	c.(2224-2226)aGa>aTa	p.R742I	ZNF836_ENST00000597252.1_Missense_Mutation_p.R742I|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	742					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R742I(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTATGCCTTCTCTGATGGTA	0.438																																					p.R742I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2225T	19						.						82.0	85.0	84.0					19																	52658711		2140	4261	6401	57350523	SO:0001583	missense	162962	exon5			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.2225G>T	19.37:g.52658711C>A	ENSP00000325038:p.Arg742Ile		57350523	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	c	15.22	2.768146	0.49680	.	.	ENSG00000196267	ENST00000322146	T	0.24908	1.83	2.09	0.934	0.19477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44582	0.1300	M	0.78456	2.415	0.33953	D	0.644726	D	0.69078	0.997	D	0.74348	0.983	T	0.53725	-0.8398	9	0.56958	D	0.05	.	5.7118	0.17938	0.2191:0.5659:0.2151:0.0	.	742	Q6ZNA1	ZN836_HUMAN	I	742	ENSP00000325038:R742I	ENSP00000325038:R742I	R	-	2	0	ZNF836	57350523	.	.	0.009000	0.14445	0.817000	0.46193	.	.	0.173000	0.19788	0.484000	0.47621	AGA		0.438	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF836	162962	broad.mit.edu	37	19	52660407	52660407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52660407C>T	ENST00000322146.8	-	5	1050	c.529G>A	c.(529-531)Gtt>Att	p.V177I	ZNF836_ENST00000597252.1_Missense_Mutation_p.V177I|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V177I(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGTGGTGAAACTAGGGAACTG	0.368																																					p.V177I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G529A	19						.						55.0	52.0	53.0					19																	52660407		1877	4110	5987	57352219	SO:0001583	missense	162962	exon5			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.529G>A	19.37:g.52660407C>T	ENSP00000325038:p.Val177Ile		57352219	NM_001102657		Missense_Mutation	SNP	ENST00000322146.8	37	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	8.812	0.935434	0.18206	.	.	ENSG00000196267	ENST00000322146	T	0.08634	3.07	1.95	-0.932	0.10435	.	.	.	.	.	T	0.04452	0.0122	N	0.16166	0.38	0.09310	N	1	P	0.38195	0.622	B	0.32762	0.152	T	0.39683	-0.9602	9	0.59425	D	0.04	.	8.8032	0.34920	0.0:0.5636:0.4364:0.0	.	177	Q6ZNA1	ZN836_HUMAN	I	177	ENSP00000325038:V177I	ENSP00000325038:V177I	V	-	1	0	ZNF836	57352219	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.493000	0.00972	0.155000	0.19261	-0.324000	0.08512	GTT		0.368	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657	
ZNF528	84436	broad.mit.edu	37	19	52909857	52909857	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52909857G>A	ENST00000360465.3	+	6	658	c.232G>A	c.(232-234)Gat>Aat	p.D78N	ZNF528_ENST00000391788.2_Missense_Mutation_p.D68N|ZNF528_ENST00000598192.1_Missense_Mutation_p.D78N|ZNF528_ENST00000594530.1_Missense_Mutation_p.D78N	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D78N(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AATAGCAAACGATCCAGACGG	0.468																																					p.D78N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	19						.						102.0	98.0	99.0					19																	52909857		2203	4300	6503	57601669	SO:0001583	missense	84436	exon6			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.232G>A	19.37:g.52909857G>A	ENSP00000353652:p.Asp78Asn		57601669	NM_032423	B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	CCDS33091.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.499|0.499	-0.872006|-0.872006	0.02570|0.02570	.|.	.|.	ENSG00000167555|ENSG00000167555	ENST00000391788;ENST00000391787;ENST00000360465|ENST00000448954	T;T;T|.	0.04917|.	5.63;5.74;3.53|.	1.47|1.47	-0.842|-0.842	0.10748|0.10748	Krueppel-associated box (1);|.	.|.	.|.	.|.	.|.	T|T	0.08133|0.08133	0.0203|0.0203	N|N	0.01352|0.01352	-0.895|-0.895	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.34104|0.34104	-0.9842|-0.9842	9|5	0.23891|.	T|.	0.37|.	.|.	4.3402|4.3402	0.11106|0.11106	0.561:0.0:0.439:0.0|0.561:0.0:0.439:0.0	.|.	78|.	Q3MIS6|.	ZN528_HUMAN|.	N|Q	68;78;78|47	ENSP00000375665:D68N;ENSP00000375664:D78N;ENSP00000353652:D78N|.	ENSP00000353652:D78N|.	D|R	+|+	1|2	0|0	ZNF528|ZNF528	57601669|57601669	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.030000|0.030000	0.13688|0.13688	-0.358000|-0.358000	0.08162|0.08162	-0.600000|-0.600000	0.04104|0.04104	GAT|CGA		0.468	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423	
ZNF534	147658	broad.mit.edu	37	19	52941547	52941547	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:52941547C>A	ENST00000332323.6	+	4	934	c.873C>A	c.(871-873)gtC>gtA	p.V291V	ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Silent_p.V278V|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V291V(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GTGGGAAAGTCTTTAGTCACC	0.388																																					p.V291V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C873A	19						.						67.0	59.0	61.0					19																	52941547		1568	3582	5150	57633359	SO:0001819	synonymous_variant	147658	exon4			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.873C>A	19.37:g.52941547C>A			57633359	NM_001143939	Q76KX9	Silent	SNP	ENST00000332323.6	37	CCDS46165.1																																																																																				0.388	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
ZNF808	388558	broad.mit.edu	37	19	53058013	53058013	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:53058013G>T	ENST00000359798.4	+	5	2024	c.1844G>T	c.(1843-1845)aGa>aTa	p.R615I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	615					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(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCACATAAGAGAATTCATACT	0.413																																					p.R615I												.	.	0			c.G1844T	19						.						50.0	55.0	53.0					19																	53058013		2194	4295	6489	57749825	SO:0001583	missense	388558	exon5			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1844G>T	19.37:g.53058013G>T	ENSP00000352846:p.Arg615Ile		57749825	NM_001039886	Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	9.715	1.158184	0.21454	.	.	ENSG00000198482	ENST00000359798	T	0.24908	1.83	1.41	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26304	0.0642	M	0.69358	2.11	0.27486	N	0.952426	B	0.27559	0.181	B	0.31751	0.135	T	0.29488	-1.0010	9	0.52906	T	0.07	.	5.0313	0.14411	0.2032:0.0:0.7968:0.0	.	615	Q8N4W9	ZN808_HUMAN	I	615	ENSP00000352846:R615I	ENSP00000352846:R615I	R	+	2	0	ZNF808	57749825	0.000000	0.05858	0.292000	0.24919	0.024000	0.10985	-1.237000	0.02922	0.737000	0.32582	0.313000	0.20887	AGA		0.413	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886	
ZNF701	55762	broad.mit.edu	37	19	53086317	53086317	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:53086317C>A	ENST00000540331.1	+	5	1428	c.1203C>A	c.(1201-1203)ttC>ttA	p.F401L	ZNF701_ENST00000391785.3_Missense_Mutation_p.F335L|ZNF701_ENST00000301093.2_Missense_Mutation_p.F401L|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F335L(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ACAAAGTTTTCAGTCGCAAAT	0.388																																					p.F335L	NSCLC(89;451 1475 9611 20673 52284)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1005A	19						.						81.0	84.0	83.0					19																	53086317		2203	4298	6501	57778129	SO:0001583	missense	55762	exon4			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1203C>A	19.37:g.53086317C>A	ENSP00000444339:p.Phe401Leu		57778129	NM_018260	A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075994	0.36662	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.46063	0.88;0.88;0.88	1.87	-0.937	0.10415	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63686	0.2532	M	0.90425	3.115	0.09310	N	1	D;D	0.62365	0.991;0.989	P;D	0.70227	0.699;0.968	T	0.52373	-0.8584	9	0.87932	D	0	.	6.1294	0.20197	0.0:0.3824:0.0:0.6176	.	401;335	F5GZM6;Q9NV72	.;ZN701_HUMAN	L	335;401;401	ENSP00000375662:F335L;ENSP00000301093:F401L;ENSP00000444339:F401L	ENSP00000301093:F401L	F	+	3	2	ZNF701	57778129	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.761000	0.04751	-0.057000	0.13199	0.400000	0.26472	TTC		0.388	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260	
ZNF83	55769	broad.mit.edu	37	19	53117170	53117170	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:53117170T>G	ENST00000597597.1	-	2	2901	c.648A>C	c.(646-648)caA>caC	p.Q216H	ZNF83_ENST00000545872.1_Missense_Mutation_p.Q216H|ZNF83_ENST00000301096.3_Missense_Mutation_p.Q216H|ZNF83_ENST00000536937.1_Missense_Mutation_p.Q216H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.Q216H|ZNF83_ENST00000391789.4_Missense_Mutation_p.Q216H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.Q216H			P51522	ZNF83_HUMAN	zinc finger protein 83	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q216H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GGTGTGAAATTTGATGGAAGA	0.383																																					p.Q216H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A648C	19						.						94.0	87.0	89.0					19																	53117170		2203	4300	6503	57808982	SO:0001583	missense	55769	exon4			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.648A>C	19.37:g.53117170T>G	ENSP00000472619:p.Gln216His		57808982	NM_001105552	A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	1.984	-0.433545	0.04669	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.36340	5.25;5.25;5.25;5.25;5.25;1.26	1.7	-3.41	0.04839	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24122	0.0584	N	0.10629	0.01	0.09310	N	1	B;D	0.63880	0.001;0.993	B;P	0.59115	0.001;0.852	T	0.38628	-0.9652	9	0.24483	T	0.36	.	1.4484	0.02369	0.225:0.3587:0.227:0.1893	.	216;216	P51522-2;P51522	.;ZNF83_HUMAN	H	216	ENSP00000445993:Q216H;ENSP00000301096:Q216H;ENSP00000445470:Q216H;ENSP00000440713:Q216H;ENSP00000439681:Q216H;ENSP00000375666:Q216H	ENSP00000301096:Q216H	Q	-	3	2	ZNF83	57808982	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.469000	0.00035	-4.663000	0.00037	-3.005000	0.00076	CAA		0.383	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300	
ZNF28	7576	broad.mit.edu	37	19	53303036	53303036	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:53303036C>T	ENST00000457749.2	-	4	2181	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	ZNF28_ENST00000360272.4_Missense_Mutation_p.E635K|ZNF28_ENST00000414252.2_Missense_Mutation_p.E635K|ZNF28_ENST00000438150.2_Missense_Mutation_p.E635K	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E635K(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TAAGGTTTCTCTCCAGTATGA	0.408																																					p.E688K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2062A	19						.						143.0	139.0	140.0					19																	53303036		2203	4300	6503	57994848	SO:0001583	missense	7576	exon4			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.2062G>A	19.37:g.53303036C>T	ENSP00000397693:p.Glu688Lys		57994848	NM_006969	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	11.90	1.775446	0.31411	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	1.94	0.849	0.18972	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	L	0.41415	1.275	0.23298	N	0.997951	B	0.19073	0.033	B	0.18871	0.023	T	0.25257	-1.0137	9	0.72032	D	0.01	.	8.1519	0.31145	0.0:0.8609:0.0:0.1391	.	688	P17035	ZNF28_HUMAN	K	635;688;635;635	ENSP00000412143:E635K;ENSP00000397693:E688K;ENSP00000353410:E635K;ENSP00000444965:E635K	ENSP00000353410:E635K	E	-	1	0	ZNF28	57994848	0.099000	0.21834	0.031000	0.17742	0.036000	0.12997	2.389000	0.44407	0.122000	0.18314	-0.741000	0.03529	GAG		0.408	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF816	125893	broad.mit.edu	37	19	53454447	53454447	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:53454447C>A	ENST00000357666.4	-	5	881	c.581G>T	c.(580-582)aGa>aTa	p.R194I	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.R194I|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R194I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACAAGAAATTCTTTGGGATTC	0.373																																					p.R194I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G581T	19						.						81.0	95.0	91.0					19																	53454447		2202	4300	6502	58146259	SO:0001583	missense	125893	exon5			BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.581G>T	19.37:g.53454447C>A	ENSP00000350295:p.Arg194Ile		58146259	NM_001031665	A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	7.988	0.752568	0.15778	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.06142	3.34;3.34	1.58	-1.63	0.08345	.	.	.	.	.	T	0.07143	0.0181	M	0.72624	2.21	0.09310	N	1	B	0.22276	0.067	B	0.15052	0.012	T	0.37549	-0.9701	9	0.66056	D	0.02	.	2.1508	0.03799	0.2991:0.4872:0.0:0.2137	.	194	Q0VGE8	ZN816_HUMAN	I	194	ENSP00000350295:R194I;ENSP00000403266:R194I	ENSP00000350295:R194I	R	-	2	0	ZNF816	58146259	0.000000	0.05858	0.003000	0.11579	0.026000	0.11368	-0.985000	0.03751	-0.560000	0.06102	0.185000	0.17295	AGA		0.373	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	NM_001031665	
VN1R2	317701	broad.mit.edu	37	19	53762403	53762403	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:53762403A>G	ENST00000341702.3	+	1	859	c.775A>G	c.(775-777)Aag>Gag	p.K259E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	259					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.K259E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGAAGTCACAAAGTCAGTATA	0.433																																					p.K259E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A775G	19						.						142.0	131.0	135.0					19																	53762403		2203	4300	6503	58454215	SO:0001583	missense	317701	exon1			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.775A>G	19.37:g.53762403A>G	ENSP00000351244:p.Lys259Glu		58454215	NM_173856	A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	A	0.290	-0.980736	0.02197	.	.	ENSG00000196131	ENST00000341702	T	0.08008	3.14	2.76	-5.46	0.02608	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03434	0.0099	N	0.16166	0.38	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.47484	-0.9114	9	0.09590	T	0.72	.	6.8041	0.23768	0.6433:0.1488:0.208:0.0	.	259	Q8NFZ6	VN1R2_HUMAN	E	259	ENSP00000351244:K259E	ENSP00000351244:K259E	K	+	1	0	VN1R2	58454215	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.384000	0.01063	-1.171000	0.02765	-0.230000	0.12252	AAG		0.433	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856	
VN1R4	317703	broad.mit.edu	37	19	53770310	53770310	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:53770310A>C	ENST00000311170.4	-	1	662	c.609T>G	c.(607-609)gtT>gtG	p.V203V	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	203					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.V203V(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GCAGTATGCAAACCATGGAGC	0.537										HNSCC(26;0.072)																											p.V203V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T609G	19						.						67.0	65.0	66.0					19																	53770310		2196	4300	6496	58462122	SO:0001819	synonymous_variant	317703	exon1			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.609T>G	19.37:g.53770310A>C			58462122	NM_173857	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	ENST00000311170.4	37	CCDS33099.1																																																																																				0.537	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857	
NLRP12	91662	broad.mit.edu	37	19	54313884	54313884	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:54313884C>T	ENST00000324134.6	-	3	1197	c.1029G>A	c.(1027-1029)cgG>cgA	p.R343R	NLRP12_ENST00000391772.1_Silent_p.R343R|NLRP12_ENST00000345770.5_Silent_p.R343R|NLRP12_ENST00000391773.1_Silent_p.R343R|NLRP12_ENST00000391775.3_Silent_p.R343R|NLRP12_ENST00000535162.1_Silent_p.R343R|NLRP12_ENST00000351894.4_Silent_p.R343R|NLRP12_ENST00000354278.3_Silent_p.R343R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	343	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.R343R(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGCCGTGGGCCGTGTGGTGA	0.557																																					p.R343R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1029A	19						.						80.0	86.0	84.0					19																	54313884		2203	4300	6503	59005696	SO:0001819	synonymous_variant	91662	exon3			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1029G>A	19.37:g.54313884C>T			59005696	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
NLRP12	91662	broad.mit.edu	37	19	54318223	54318223	+	Silent	SNP	C	C	T	rs200930208		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:54318223C>T	ENST00000324134.6	-	2	477	c.309G>A	c.(307-309)ccG>ccA	p.P103P	NLRP12_ENST00000391772.1_Silent_p.P103P|NLRP12_ENST00000345770.5_Silent_p.P103P|NLRP12_ENST00000391773.1_Silent_p.P103P|NLRP12_ENST00000391775.3_Silent_p.P103P|NLRP12_ENST00000535162.1_Silent_p.P103P|NLRP12_ENST00000351894.4_Silent_p.P103P|NLRP12_ENST00000354278.3_Silent_p.P103P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	103					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.P103P(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAAGTGAGGACGGGCCACCAG	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19977	0.0		0.0	False		,,,				2504	0.0				p.P103P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G309A	19						.						123.0	111.0	115.0					19																	54318223		2203	4300	6503	59010035	SO:0001819	synonymous_variant	91662	exon2			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.309G>A	19.37:g.54318223C>T			59010035	NM_144687	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	CCDS12864.1																																																																																				0.493	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
PRKCG	5582	broad.mit.edu	37	19	54406392	54406392	+	Silent	SNP	G	G	A	rs200404402		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:54406392G>A	ENST00000263431.3	+	15	1923	c.1641G>A	c.(1639-1641)gaG>gaA	p.E547E	PRKCG_ENST00000540413.1_Silent_p.E547E|PRKCG_ENST00000542049.1_Silent_p.E434E	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	547	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.E547E(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TGCTGTATGAGATGTTGGCAG	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17098	0.0		0.0	False		,,,				2504	0.0				p.E547E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1641A	19						.						305.0	273.0	284.0					19																	54406392		2203	4300	6503	59098204	SO:0001819	synonymous_variant	5582	exon15			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1641G>A	19.37:g.54406392G>A			59098204	NM_002739	B7Z8Q0	Silent	SNP	ENST00000263431.3	37	CCDS12867.1																																																																																				0.537	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
TMC4	147798	broad.mit.edu	37	19	54673393	54673393	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:54673393C>A	ENST00000376591.4	-	3	448	c.317G>T	c.(316-318)aGa>aTa	p.R106I	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.R100I	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	106					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R100I(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGCATTTCTTTGCCTGGG	0.527																																					p.R106I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317T	19						.						57.0	53.0	54.0					19																	54673393		2203	4300	6503	59365205	SO:0001583	missense	147798	exon3			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.317G>T	19.37:g.54673393C>A	ENSP00000365776:p.Arg106Ile		59365205	NM_001145303	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578040	0.28180	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.77098	0.72;0.72;-1.07	3.81	2.77	0.32553	.	1.744420	0.03347	U	0.195603	T	0.69351	0.3101	N	0.20986	0.625	0.23180	N	0.998169	B;B	0.34372	0.162;0.451	B;B	0.39660	0.062;0.306	T	0.57877	-0.7735	10	0.19590	T	0.45	-0.2805	7.7759	0.29037	0.0:0.8772:0.0:0.1228	.	106;100	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	I	100;106;10	ENSP00000301187:R100I;ENSP00000365776:R106I;ENSP00000416444:R10I	ENSP00000301187:R100I	R	-	2	0	TMC4	59365205	0.000000	0.05858	0.025000	0.17156	0.011000	0.07611	-0.323000	0.07997	0.914000	0.36822	0.543000	0.68304	AGA		0.527	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2		
LILRB3	11025	broad.mit.edu	37	19	54721215	54721215	+	Silent	SNP	C	C	T	rs1053011	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:54721215C>T	ENST00000391750.1	-	13	1858	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V	LILRB3_ENST00000245620.9_Silent_p.V575V|LILRB3_ENST00000424807.1_Silent_p.V574V|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Silent_p.V591V|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000270464.5_Silent_p.V575V|LILRA6_ENST00000440558.2_Silent_p.V574V|LILRB3_ENST00000346401.6_Silent_p.V586V|LILRA6_ENST00000419410.2_Silent_p.V575V			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	574			V -> A (in dbSNP:rs1053008). {ECO:0000269|PubMed:9548455}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCTCTTCCACCTGTCTGT	0.597													.|||	395	0.0788738	0.1785	0.0865	5008	,	,		16029	0.001		0.0586	False		,,,				2504	0.0399				p.V574V												.	.	0			c.G1722A	19						.						103.0	101.0	102.0					19																	54721215		2184	4298	6482	59413027	SO:0001819	synonymous_variant	11025	exon12			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1722G>A	19.37:g.54721215C>T			59413027	NM_006864	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																				0.597	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	
LILRB1	10859	broad.mit.edu	37	19	55144609	55144609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:55144609G>A	ENST00000396331.1	+	8	1458	c.1101G>A	c.(1099-1101)tgG>tgA	p.W367*	LILRB1_ENST00000427581.2_Nonsense_Mutation_p.W403*|LILRB1_ENST00000448689.1_Nonsense_Mutation_p.W367*|LILRB1_ENST00000396321.2_Nonsense_Mutation_p.W367*|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Nonsense_Mutation_p.W367*|LILRB1_ENST00000396317.1_Nonsense_Mutation_p.W367*|LILRB1_ENST00000396327.3_Nonsense_Mutation_p.W367*|LILRB1_ENST00000396332.4_Nonsense_Mutation_p.W367*|LILRB1_ENST00000434867.2_Nonsense_Mutation_p.W367*|LILRB1_ENST00000418536.2_Nonsense_Mutation_p.W367*|LILRB1_ENST00000324602.7_Nonsense_Mutation_p.W367*	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	367	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.W367*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ATGACCCATGGCGTCTAAGAT	0.562										HNSCC(37;0.09)																											p.W367X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1101A	19						.						111.0	120.0	117.0					19																	55144609		2203	4300	6503	59836421	SO:0001587	stop_gained	10859	exon7			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1101G>A	19.37:g.55144609G>A	ENSP00000379622:p.Trp367*		59836421	NM_001081639	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Nonsense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695299	0.88830	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	.	.	.	1.52	-1.12	0.09808	.	0.821389	0.09810	N	0.752957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.4761	0.33014	0.0:0.248:0.752:0.0	.	.	.	.	X	367;367;367;367;367;367;367;367;403;367;367	.	ENSP00000315997:W367X	W	+	3	0	LILRB1	59836421	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.022000	0.13511	-0.181000	0.10619	-2.657000	0.00147	TGG		0.562	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
KIR3DL1	3811	broad.mit.edu	37	19	55340899	55340899	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:55340899C>A	ENST00000391728.4	+	7	1117	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L362I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L345I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L345I|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L267I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	362			L -> R (in dbSNP:rs1130468).		immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.L362I(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		tctccttcatctcTGGTGCTC	0.532																																					p.L362I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1084A	19						.						202.0	155.0	171.0					19																	55340899		2172	4149	6321	60032711	SO:0001583	missense	3811	exon7			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1084C>A	19.37:g.55340899C>A	ENSP00000375608:p.Leu362Ile		60032711	NM_013289	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	3.946	-0.013217	0.07727	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00487	7.07;7.08;7.07;7.08;7.05	0.743	-0.443	0.12249	.	899.158000	0.00877	U	0.002088	T	0.00356	0.0011	N	0.24115	0.695	0.09310	N	1	B;B;B	0.13594	0.008;0.004;0.002	B;B;B	0.22386	0.039;0.001;0.001	T	0.46952	-0.9154	10	0.72032	D	0.01	.	3.1214	0.06392	0.0:0.6513:0.0:0.3487	.	345;267;362	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	I	362;345;340;362;345;267	ENSP00000443350:L362I;ENSP00000442355:L345I;ENSP00000375608:L362I;ENSP00000326868:L345I;ENSP00000350901:L267I	ENSP00000326868:L345I	L	+	1	0	KIR3DL1	60032711	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.067000	0.11579	-0.103000	0.12175	0.184000	0.17185	CTC		0.532	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
NLRP7	199713	broad.mit.edu	37	19	55445014	55445014	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:55445014C>A	ENST00000590030.1	-	7	2605	c.2565G>T	c.(2563-2565)aaG>aaT	p.K855N	NLRP7_ENST00000588756.1_Missense_Mutation_p.K855N|NLRP7_ENST00000328092.5_Missense_Mutation_p.K827N|NLRP7_ENST00000446217.1_Missense_Mutation_p.K883N|NLRP7_ENST00000340844.2_Missense_Mutation_p.K855N|NLRP7_ENST00000592784.1_Missense_Mutation_p.K855N|NLRP7_ENST00000448121.2_Missense_Mutation_p.K827N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	855							ATP binding (GO:0005524)	p.K827N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAATGGGGTTCTTGGCCAAGC	0.507																																					p.K827N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2481T	19						.						106.0	101.0	103.0					19																	55445014		2203	4300	6503	60136826	SO:0001583	missense	199713	exon8			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2565G>T	19.37:g.55445014C>A	ENSP00000465520:p.Lys855Asn		60136826	NM_139176	E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	0.717	-0.784795	0.02907	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.60797	0.16;0.16;0.16	2.25	-3.85	0.04243	.	.	.	.	.	T	0.28267	0.0698	N	0.03000	-0.44	0.09310	N	1	B;B;B;B	0.27732	0.097;0.187;0.064;0.152	B;B;B;B	0.34931	0.084;0.192;0.137;0.094	T	0.33292	-0.9874	9	0.20046	T	0.44	.	5.9513	0.19248	0.0:0.2772:0.5699:0.1528	.	883;855;855;827	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	855;827;855;883;622	ENSP00000409137:K827N;ENSP00000339491:K855N;ENSP00000414273:K883N	ENSP00000329568:K855N	K	-	3	2	NLRP7	60136826	0.000000	0.05858	0.027000	0.17364	0.096000	0.18686	-1.202000	0.03023	-0.770000	0.04614	0.555000	0.69702	AAG		0.507	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP7	199713	broad.mit.edu	37	19	55451320	55451320	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:55451320C>T	ENST00000590030.1	-	3	907	c.867G>A	c.(865-867)agG>agA	p.R289R	NLRP7_ENST00000588756.1_Silent_p.R289R|NLRP7_ENST00000328092.5_Silent_p.R289R|NLRP7_ENST00000446217.1_Silent_p.R317R|NLRP7_ENST00000340844.2_Silent_p.R289R|NLRP7_ENST00000592784.1_Silent_p.R289R|NLRP7_ENST00000448121.2_Silent_p.R289R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	289	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTAACATCTTCCTCTTCAGCA	0.632																																					p.R289R												.	.	0			c.G867A	19						.						50.0	48.0	49.0					19																	55451320		2203	4300	6503	60143132	SO:0001819	synonymous_variant	199713	exon4			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.867G>A	19.37:g.55451320C>T			60143132	NM_139176	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																				0.632	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
BRSK1	84446	broad.mit.edu	37	19	55805406	55805406	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:55805406G>A	ENST00000309383.1	+	5	757	c.480G>A	c.(478-480)gaG>gaA	p.E160E	BRSK1_ENST00000585418.1_Silent_p.E160E|BRSK1_ENST00000590333.1_Silent_p.E176E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.E160E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TAAAGCCCGAGAACCTGCTTT	0.607																																					p.E160E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G480A	19						.						148.0	152.0	151.0					19																	55805406		2203	4300	6503	60497218	SO:0001819	synonymous_variant	84446	exon5			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.480G>A	19.37:g.55805406G>A			60497218	NM_032430	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	CCDS12921.1																																																																																				0.607	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
ZNF524	147807	broad.mit.edu	37	19	56113511	56113511	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:56113511G>A	ENST00000591046.1	+	1	267	c.33G>A	c.(31-33)tcG>tcA	p.S11S	FIZ1_ENST00000221665.3_5'Flank|ZNF524_ENST00000301073.3_Silent_p.S11S|FIZ1_ENST00000592585.1_5'Flank			Q96C55	ZN524_HUMAN	zinc finger protein 524	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S11S(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGTTGCCTTCGCCTTTGCCCG	0.652																																					p.S11S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G33A	19						.						41.0	45.0	43.0					19																	56113511		2203	4300	6503	60805323	SO:0001819	synonymous_variant	147807	exon2			BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"""Zinc fingers, C2H2-type"""	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.33G>A	19.37:g.56113511G>A			60805323	NM_153219	Q6NW31|Q96IL7	Silent	SNP	ENST00000591046.1	37	CCDS12929.1																																																																																				0.652	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457938.1	NM_153219	
NLRP9	338321	broad.mit.edu	37	19	56244335	56244335	+	Missense_Mutation	SNP	G	G	A	rs371355203		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:56244335G>A	ENST00000332836.2	-	2	889	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	288	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R288W(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTGGATGCCGCAACATAAAA	0.378																																					p.R288W												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.C862T	19						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	57.0	57.0	57.0		862	-1.2	0.0	19		57	0,8600		0,0,4300	no	missense	NLRP9	NM_176820.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	288/992	56244335	1,13005	2203	4300	6503	60936147	SO:0001583	missense	338321	exon2			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.862C>T	19.37:g.56244335G>A	ENSP00000331857:p.Arg288Trp		60936147	NM_176820	B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791324	0.31685	2.27E-4	0.0	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.76186	-1.0	2.46	-1.22	0.09494	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.70098	0.3185	L	0.34521	1.04	0.09310	N	1	D	0.56746	0.977	P	0.55303	0.773	T	0.61019	-0.7147	9	0.72032	D	0.01	.	6.5536	0.22448	0.124:0.5573:0.3187:0.0	.	288	Q7RTR0	NALP9_HUMAN	W	288	ENSP00000331857:R288W	ENSP00000331857:R288W	R	-	1	2	NLRP9	60936147	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.639000	0.02011	-0.133000	0.11537	0.644000	0.83932	CGG		0.378	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820	
NLRP11	204801	broad.mit.edu	37	19	56321612	56321612	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:56321612G>A	ENST00000589093.1	-	3	457	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	NLRP11_ENST00000589824.2_Missense_Mutation_p.R122C|NLRP11_ENST00000360133.3_Missense_Mutation_p.R122C|NLRP11_ENST00000592953.1_Missense_Mutation_p.R23C|NLRP11_ENST00000443188.1_Missense_Mutation_p.R122C			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	122							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.R122C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAACGTCACGAAAAAATTTA	0.383																																					p.R122C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364T	19						.						39.0	39.0	39.0					19																	56321612		2203	4300	6503	61013424	SO:0001583	missense	204801	exon5			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.364C>T	19.37:g.56321612G>A	ENSP00000466285:p.Arg122Cys		61013424	NM_145007	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	2.408	-0.335955	0.05278	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.75050	-0.9;-0.84	1.99	-3.99	0.04069	.	.	.	.	.	T	0.45657	0.1353	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12451	-1.0547	9	0.48119	T	0.1	.	0.6785	0.00871	0.1848:0.2901:0.2841:0.2409	.	122;122	P59045;P59045-2	NAL11_HUMAN;.	C	122	ENSP00000409898:R122C;ENSP00000353251:R122C	ENSP00000353251:R122C	R	-	1	0	NLRP11	61013424	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.183000	0.00568	-2.248000	0.00703	-0.294000	0.09567	CGT		0.383	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP4	147945	broad.mit.edu	37	19	56388399	56388399	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:56388399G>T	ENST00000301295.6	+	8	2985	c.2563G>T	c.(2563-2565)Gac>Tac	p.D855Y	NLRP4_ENST00000587891.1_Missense_Mutation_p.D780Y|NLRP4_ENST00000346986.5_Missense_Mutation_p.D799Y	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	855					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D855Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGCTGTGAAGACCTCGCCTC	0.453																																					p.D855Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2563T	19						.						191.0	187.0	188.0					19																	56388399		2203	4300	6503	61080211	SO:0001583	missense	147945	exon8			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2563G>T	19.37:g.56388399G>T	ENSP00000301295:p.Asp855Tyr		61080211	NM_134444	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661136	0.29515	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.40756	1.02;1.02	3.91	0.316	0.15857	.	.	.	.	.	T	0.39145	0.1067	L	0.57536	1.79	0.09310	N	1	P;P;P	0.48230	0.48;0.905;0.907	B;P;B	0.52109	0.276;0.69;0.346	T	0.31530	-0.9940	9	0.02654	T	1	.	4.6221	0.12460	0.108:0.0:0.5085:0.3836	.	799;780;855	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	Y	855;799	ENSP00000301295:D855Y;ENSP00000344787:D799Y	ENSP00000301295:D855Y	D	+	1	0	NLRP4	61080211	0.002000	0.14202	0.014000	0.15608	0.142000	0.21351	0.813000	0.27225	0.066000	0.16515	0.585000	0.79938	GAC		0.453	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
ACSBG2	81616	broad.mit.edu	37	19	6166026	6166026	+	Splice_Site	SNP	C	C	T	rs560299046		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:6166026C>T	ENST00000586696.1	+	7	1014	c.738C>T	c.(736-738)aaC>aaT	p.N246N	ACSBG2_ENST00000252669.5_Splice_Site_p.N246N|ACSBG2_ENST00000588304.1_Splice_Site_p.N196N|ACSBG2_ENST00000591403.1_Splice_Site_p.N246N|ACSBG2_ENST00000588485.1_Splice_Site_p.N59N|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	246					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.N246N(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCATGACAACGTACGCCAAA	0.552											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		20823	0.001		0.0	False		,,,				2504	0.0				p.N246N												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C738T	19						.						139.0	99.0	112.0					19																	6166026		2203	4300	6503	6117026	SO:0001630	splice_region_variant	81616	exon7				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.738+1C>T	19.37:g.6166026C>T		632	6117026	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	ENST00000586696.1	37	CCDS12159.1																																																																																				0.552	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	Silent
NLRP8	126205	broad.mit.edu	37	19	56466234	56466234	+	Silent	SNP	C	C	T	rs117657068		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:56466234C>T	ENST00000291971.3	+	3	881	c.810C>T	c.(808-810)ctC>ctT	p.L270L	NLRP8_ENST00000590542.1_Silent_p.L270L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	270	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L270L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCAGGACCTCGTGTCAAAGA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20907	0.001		0.0	False		,,,				2504	0.0				p.L270L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C810T	19						.						184.0	182.0	183.0					19																	56466234		2203	4300	6503	61158046	SO:0001819	synonymous_variant	126205	exon3			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.810C>T	19.37:g.56466234C>T			61158046	NM_176811	Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1																																																																																				0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
ACSBG2	81616	broad.mit.edu	37	19	6185582	6185582	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:6185582C>T	ENST00000586696.1	+	11	1734	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	ACSBG2_ENST00000252669.5_Silent_p.I486I|ACSBG2_ENST00000588304.1_Silent_p.I436I|ACSBG2_ENST00000591403.1_Silent_p.I486I|ACSBG2_ENST00000588485.1_Silent_p.I299I|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	486					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.I486I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGAGGCCATCGATGATGAAG	0.552																																					p.I486I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1458T	19						.						163.0	149.0	154.0					19																	6185582		2203	4300	6503	6136582	SO:0001819	synonymous_variant	81616	exon11				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1458C>T	19.37:g.6185582C>T			6136582	NM_030924	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	ENST00000586696.1	37	CCDS12159.1																																																																																				0.552	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
NLRP5	126206	broad.mit.edu	37	19	56515425	56515425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:56515425C>T	ENST00000390649.3	+	2	406	c.406C>T	c.(406-408)Cga>Tga	p.R136*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	136	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R136*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CATGAACCTGCGAACCCTCTC	0.517																																					p.R136X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C406T	19						.						95.0	91.0	92.0					19																	56515425		2013	4180	6193	61207237	SO:0001587	stop_gained	126206	exon2			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.406C>T	19.37:g.56515425C>T	ENSP00000375063:p.Arg136*		61207237	NM_153447	A8MTY4|Q86W29	Nonsense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125444	0.56721	.	.	ENSG00000171487	ENST00000390649	.	.	.	3.15	-3.17	0.05202	.	4.161420	0.00957	N	0.003047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	4.9173	0.13853	0.0:0.4934:0.1928:0.3138	.	.	.	.	X	136	.	ENSP00000375063:R136X	R	+	1	2	NLRP5	61207237	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-1.498000	0.02287	-0.654000	0.05394	0.558000	0.71614	CGA		0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZNF582	147948	broad.mit.edu	37	19	56895911	56895911	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:56895911A>C	ENST00000301310.4	-	5	1033	c.875T>G	c.(874-876)tTc>tGc	p.F292C	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.F292C	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F292C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GATCCGATTGAAGGCCTTGCC	0.428																																					p.F292C	Ovarian(183;1887 2032 4349 30507 51343)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T875G	19						.						72.0	63.0	66.0					19																	56895911		2203	4300	6503	61587723	SO:0001583	missense	147948	exon5			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.875T>G	19.37:g.56895911A>C	ENSP00000301310:p.Phe292Cys		61587723	NM_144690	B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690908	0.48097	.	.	ENSG00000018869	ENST00000301310	T	0.45668	0.89	4.88	4.88	0.63580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37261	N	0.002165	T	0.70692	0.3253	M	0.91510	3.215	0.41082	D	0.985531	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78778	-0.2071	10	0.87932	D	0	.	13.8885	0.63724	1.0:0.0:0.0:0.0	.	292;323	Q96NG8;B4DQZ9	ZN582_HUMAN;.	C	292	ENSP00000301310:F292C	ENSP00000301310:F292C	F	-	2	0	ZNF582	61587723	1.000000	0.71417	0.294000	0.24946	0.023000	0.10783	5.641000	0.67881	2.164000	0.68074	0.533000	0.62120	TTC		0.428	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690	
ZNF471	57573	broad.mit.edu	37	19	57036872	57036872	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:57036872G>T	ENST00000308031.5	+	5	1569	c.1436G>T	c.(1435-1437)aGa>aTa	p.R479I	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R479I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGTCATTTGAGAATTCATACT	0.398																																					p.R479I	Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1436T	19						.						62.0	61.0	62.0					19																	57036872		2203	4300	6503	61728684	SO:0001583	missense	57573	exon5			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1436G>T	19.37:g.57036872G>T	ENSP00000309161:p.Arg479Ile		61728684	NM_020813	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.554062	0.65425	.	.	ENSG00000196263	ENST00000308031	T	0.24908	1.83	3.66	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36082	0.0954	L	0.45744	1.44	0.80722	D	1	D	0.62365	0.991	P	0.55112	0.769	T	0.20009	-1.0288	9	0.54805	T	0.06	.	14.2926	0.66289	0.0:0.0:1.0:0.0	.	479	Q9BX82	ZN471_HUMAN	I	479	ENSP00000309161:R479I	ENSP00000309161:R479I	R	+	2	0	ZNF471	61728684	0.001000	0.12720	0.985000	0.45067	0.993000	0.82548	1.093000	0.30939	1.884000	0.54569	0.462000	0.41574	AGA		0.398	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813	
ZFP28	140612	broad.mit.edu	37	19	57065679	57065679	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:57065679G>A	ENST00000301318.3	+	8	1596	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D509N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		TGATTGCATCGATTGTGGGAA	0.423																																					p.D509N	Ovarian(124;554 1662 19430 21141 52494)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1525A	19						.						93.0	77.0	82.0					19																	57065679		2203	4300	6503	61757491	SO:0001583	missense	140612	exon8				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1525G>A	19.37:g.57065679G>A	ENSP00000301318:p.Asp509Asn		61757491	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728990	0.30684	.	.	ENSG00000196867	ENST00000301318	T	0.07327	3.2	4.4	3.36	0.38483	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.286883	0.25014	N	0.033815	T	0.09423	0.0232	L	0.47016	1.485	0.09310	N	0.999992	P	0.52316	0.952	B	0.42062	0.374	T	0.12993	-1.0526	10	0.72032	D	0.01	.	11.6211	0.51119	0.0895:0.0:0.9105:0.0	.	509	Q8NHY6	ZFP28_HUMAN	N	509	ENSP00000301318:D509N	ENSP00000301318:D509N	D	+	1	0	ZFP28	61757491	0.000000	0.05858	0.115000	0.21578	0.977000	0.68977	0.389000	0.20751	1.199000	0.43173	0.650000	0.86243	GAT		0.423	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZFP28	140612	broad.mit.edu	37	19	57065903	57065903	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:57065903T>C	ENST00000301318.3	+	8	1820	c.1749T>C	c.(1747-1749)caT>caC	p.H583H	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H583H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAAGAGTACATTCTGGAGAAA	0.398																																					p.H583H	Ovarian(124;554 1662 19430 21141 52494)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1749C	19						.						84.0	88.0	87.0					19																	57065903		2202	4300	6502	61757715	SO:0001819	synonymous_variant	140612	exon8				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1749T>C	19.37:g.57065903T>C			61757715	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	CCDS12946.1																																																																																				0.398	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZFP28	140612	broad.mit.edu	37	19	57066159	57066159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:57066159G>T	ENST00000301318.3	+	8	2076	c.2005G>T	c.(2005-2007)Gga>Tga	p.G669*	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	669					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G669*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AACCCATACAGGAGAGAAACC	0.458																																					p.G669X	Ovarian(124;554 1662 19430 21141 52494)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2005T	19						.						86.0	88.0	88.0					19																	57066159		2203	4300	6503	61757971	SO:0001587	stop_gained	140612	exon8				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2005G>T	19.37:g.57066159G>T	ENSP00000301318:p.Gly669*		61757971	NM_020828	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Nonsense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300503	0.81136	.	.	ENSG00000196867	ENST00000301318	.	.	.	3.91	3.91	0.45181	.	0.000000	0.45361	D	0.000365	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.2106	0.73222	0.0:0.0:1.0:0.0	.	.	.	.	X	669	.	ENSP00000301318:G669X	G	+	1	0	ZFP28	61757971	1.000000	0.71417	0.893000	0.35052	0.045000	0.14185	6.341000	0.72977	2.182000	0.69389	0.555000	0.69702	GGA		0.458	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
ZNF835	90485	broad.mit.edu	37	19	57176094	57176094	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:57176094C>T	ENST00000537055.2	-	2	704	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R180H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCGTGCGCTGGTGCAG	0.662																																					p.R180H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539A	19						.						37.0	40.0	39.0					19																	57176094		2203	4300	6503	61867906	SO:0001583	missense	90485	exon2			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.473G>A	19.37:g.57176094C>T	ENSP00000444747:p.Arg158His		61867906	NM_001005850	B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340245	0.60963	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.25749	1.78	2.68	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48677	0.1513	M	0.80982	2.52	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.20438	-1.0275	9	0.87932	D	0	.	7.5961	0.28048	0.0:0.7333:0.2667:0.0	.	180	Q9Y2P0	ZN835_HUMAN	H	180;158	ENSP00000444747:R158H	ENSP00000341756:R180H	R	-	2	0	ZNF835	61867906	0.000000	0.05858	0.577000	0.28562	0.993000	0.82548	-0.073000	0.11468	1.494000	0.48533	0.561000	0.74099	CGC		0.662	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850	
USP29	57663	broad.mit.edu	37	19	57640925	57640925	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:57640925T>G	ENST00000254181.4	+	4	1336	c.882T>G	c.(880-882)tgT>tgG	p.C294W	USP29_ENST00000598197.1_Missense_Mutation_p.C294W	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	294	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.C294W(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAACACCTGTTACATGAATG	0.473																																					p.C294W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T882G	19						.						79.0	76.0	77.0					19																	57640925		2203	4300	6503	62332737	SO:0001583	missense	57663	exon4				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.882T>G	19.37:g.57640925T>G	ENSP00000254181:p.Cys294Trp		62332737	NM_020903		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626959	0.46840	.	.	ENSG00000131864	ENST00000254181	D	0.93247	-3.19	2.68	0.413	0.16401	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.34802	U	0.003671	D	0.95912	0.8669	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93372	0.6736	10	0.87932	D	0	-4.5229	5.775	0.18273	0.0:0.4162:0.0:0.5838	.	294	Q9HBJ7	UBP29_HUMAN	W	294	ENSP00000254181:C294W	ENSP00000254181:C294W	C	+	3	2	USP29	62332737	0.994000	0.37717	0.927000	0.36925	0.968000	0.65278	-0.013000	0.12678	-0.006000	0.14370	0.477000	0.44152	TGT		0.473	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
ZNF460	10794	broad.mit.edu	37	19	57803135	57803135	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:57803135G>A	ENST00000360338.3	+	3	1548	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	ZNF460_ENST00000537645.1_Missense_Mutation_p.R368Q	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R409Q(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GACCTCATTCGACACTTCAAC	0.468																																					p.R409Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1226A	19						.						73.0	77.0	75.0					19																	57803135		2203	4300	6503	62494947	SO:0001583	missense	10794	exon3			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1226G>A	19.37:g.57803135G>A	ENSP00000353491:p.Arg409Gln		62494947	NM_006635	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.487073	0.01018	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.07216	3.21;3.21	1.68	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07324	0.0185	L	0.42686	1.345	0.09310	N	1	D	0.71674	0.998	P	0.46275	0.51	T	0.04495	-1.0947	9	0.05436	T	0.98	.	7.3794	0.26847	0.0:0.0:0.7411:0.2589	.	409	Q14592	ZN460_HUMAN	Q	368;409	ENSP00000446167:R368Q;ENSP00000353491:R409Q	ENSP00000353491:R409Q	R	+	2	0	ZNF460	62494947	0.000000	0.05858	0.001000	0.08648	0.159000	0.22180	-2.038000	0.01419	1.227000	0.43598	0.650000	0.86243	CGA		0.468	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635	
ACER1	125981	broad.mit.edu	37	19	6309763	6309763	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:6309763C>T	ENST00000301452.4	-	4	510	c.433G>A	c.(433-435)Gcc>Acc	p.A145T		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	145					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)	p.A145T(1)		NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CTGTTGAGGGCGTAGGCGTTG	0.617																																					p.A145T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G433A	19						.						145.0	108.0	120.0					19																	6309763		2203	4300	6503	6260763	SO:0001583	missense	125981	exon4			AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.433G>A	19.37:g.6309763C>T	ENSP00000301452:p.Ala145Thr		6260763	NM_133492		Missense_Mutation	SNP	ENST00000301452.4	37	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757027	0.69648	.	.	ENSG00000167769	ENST00000301452	T	0.50277	0.75	4.49	3.43	0.39272	.	0.267175	0.36338	N	0.002642	T	0.55369	0.1916	M	0.66939	2.045	0.58432	D	0.999992	D	0.61080	0.989	P	0.54401	0.751	T	0.57201	-0.7852	10	0.44086	T	0.13	-26.7628	10.7192	0.46030	0.0:0.901:0.0:0.099	.	145	Q8TDN7	ACER1_HUMAN	T	145	ENSP00000301452:A145T	ENSP00000301452:A145T	A	-	1	0	ACER1	6260763	0.995000	0.38212	0.908000	0.35775	0.437000	0.31866	3.172000	0.50832	2.059000	0.61396	0.542000	0.68232	GCC		0.617	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492	
ZNF304	57343	broad.mit.edu	37	19	57868684	57868684	+	Missense_Mutation	SNP	G	G	A	rs201901759		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:57868684G>A	ENST00000282286.5	+	3	1620	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T	ZNF304_ENST00000391705.3_Missense_Mutation_p.A483T|ZNF304_ENST00000443917.2_Missense_Mutation_p.A530T|ZNF304_ENST00000598744.1_Missense_Mutation_p.A441T			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A483T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATGTGGGAAGGCCTTCAGCCG	0.473																																					p.A483T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1447A	19						.						98.0	95.0	96.0					19																	57868684		2203	4300	6503	62560496	SO:0001583	missense	57343	exon3			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1447G>A	19.37:g.57868684G>A	ENSP00000282286:p.Ala483Thr		62560496	NM_020657		Missense_Mutation	SNP	ENST00000282286.5	37	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	G	9.726	1.160951	0.21538	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.13778	2.56;2.56;2.56	4.14	-0.782	0.10961	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11452	0.0279	L	0.37750	1.13	0.19575	N	0.999969	P;P	0.43578	0.811;0.666	P;B	0.46419	0.516;0.212	T	0.25676	-1.0125	9	0.23891	T	0.37	.	4.0258	0.09687	0.0829:0.129:0.262:0.526	.	483;530	Q9HCX3;E7EQD3	ZN304_HUMAN;.	T	483;483;530	ENSP00000282286:A483T;ENSP00000375586:A483T;ENSP00000401642:A530T	ENSP00000282286:A483T	A	+	1	0	ZNF304	62560496	0.000000	0.05858	0.350000	0.25708	0.710000	0.40934	-0.564000	0.05936	0.003000	0.14656	-0.175000	0.13238	GCC		0.473	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1		
VN1R1	57191	broad.mit.edu	37	19	57967731	57967731	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:57967731C>T	ENST00000321039.3	-	1	123	c.124G>A	c.(124-126)Gct>Act	p.A42T	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	42					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.A42T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TTTCCAAAAGCCATTTCATCA	0.353																																					p.A42T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G124A	19						.						55.0	57.0	57.0					19																	57967731		2203	4300	6503	62659543	SO:0001583	missense	57191	exon1			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.124G>A	19.37:g.57967731C>T	ENSP00000322339:p.Ala42Thr		62659543	NM_020633	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937337	0.34189	.	.	ENSG00000178201	ENST00000321039	T	0.36878	1.23	4.18	-4.16	0.03869	.	.	.	.	.	T	0.19127	0.0459	N	0.16833	0.445	0.09310	N	1	B	0.33103	0.397	B	0.34590	0.186	T	0.25745	-1.0123	9	0.39692	T	0.17	.	6.4994	0.22160	0.1384:0.2523:0.0:0.6093	.	42	Q9GZP7	VN1R1_HUMAN	T	42	ENSP00000322339:A42T	ENSP00000322339:A42T	A	-	1	0	VN1R1	62659543	0.012000	0.17670	0.002000	0.10522	0.005000	0.04900	-0.635000	0.05471	-0.539000	0.06273	-0.152000	0.13540	GCT		0.353	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633	
ZNF419	79744	broad.mit.edu	37	19	58005261	58005261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58005261C>T	ENST00000221735.7	+	5	1522	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	ZNF419_ENST00000415379.2_Nonsense_Mutation_p.R400*|ZNF419_ENST00000354197.4_Intron|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Nonsense_Mutation_p.R414*|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.R434*|ZNF419_ENST00000424930.2_Nonsense_Mutation_p.R447*|ZNF419_ENST00000442920.2_Nonsense_Mutation_p.R433*			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R421*(1)|p.R414*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CATGCAACATCGAAAAGTTCA	0.433																																					p.R414X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1240T	19						.						115.0	121.0	119.0					19																	58005261		2203	4300	6503	62697073	SO:0001587	stop_gained	79744	exon4			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1336C>T	19.37:g.58005261C>T	ENSP00000221735:p.Arg446*		62697073	NM_001098494	B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Nonsense_Mutation	SNP	ENST00000221735.7	37	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048861	0.93740	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000442920;ENST00000347466;ENST00000415379;ENST00000221735	.	.	.	2.11	-0.185	0.13276	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.3991	0.07316	0.2029:0.512:0.0:0.285	.	.	.	.	X	421;447;434;433;414;400;446	.	ENSP00000221735:R446X	R	+	1	2	ZNF419	62697073	0.000000	0.05858	0.002000	0.10522	0.782000	0.44232	-1.271000	0.02828	0.193000	0.20303	0.205000	0.17691	CGA		0.433	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691	
ZNF530	348327	broad.mit.edu	37	19	58117569	58117569	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58117569T>G	ENST00000332854.6	+	3	896	c.676T>G	c.(676-678)Ttc>Gtc	p.F226V	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F226V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAAATCTGTATTCATTCAACA	0.433																																					p.F226V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T676G	19						.						70.0	73.0	72.0					19																	58117569		2203	4300	6503	62809381	SO:0001583	missense	348327	exon3			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.676T>G	19.37:g.58117569T>G	ENSP00000332861:p.Phe226Val		62809381	NM_020880	O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	T	9.036	0.988599	0.18966	.	.	ENSG00000183647	ENST00000332854	T	0.15139	2.45	1.16	-0.196	0.13232	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10937	0.0267	L	0.35644	1.08	0.09310	N	1	B	0.34161	0.439	B	0.25987	0.065	T	0.17531	-1.0366	9	0.72032	D	0.01	.	5.7364	0.18069	0.0:0.604:0.0:0.396	.	226	Q6P9A1	ZN530_HUMAN	V	226	ENSP00000332861:F226V	ENSP00000332861:F226V	F	+	1	0	ZNF530	62809381	0.000000	0.05858	0.002000	0.10522	0.319000	0.28217	0.037000	0.13840	-0.394000	0.07727	-0.410000	0.06199	TTC		0.433	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880	
ZNF134	7693	broad.mit.edu	37	19	58132311	58132311	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58132311T>G	ENST00000396161.5	+	3	1134	c.824T>G	c.(823-825)cTa>cGa	p.L275R		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L275R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CACTCCAATCTAATTGTACAC	0.408																																					p.L275R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T824G	19						.						83.0	87.0	86.0					19																	58132311		2196	4300	6496	62824123	SO:0001583	missense	7693	exon3			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.824T>G	19.37:g.58132311T>G	ENSP00000379464:p.Leu275Arg		62824123	NM_003435	Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987070	0.53934	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.53640	0.61	4.29	4.29	0.51040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.75598	0.3871	M	0.93150	3.385	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68769	-0.5321	9	0.87932	D	0	.	12.7797	0.57471	0.0:0.0:0.0:1.0	.	275	P52741	ZN134_HUMAN	R	342;195;275	ENSP00000379464:L275R	ENSP00000379464:L275R	L	+	2	0	ZNF134	62824123	0.940000	0.31905	0.692000	0.30179	0.994000	0.84299	7.163000	0.77524	1.917000	0.55516	0.459000	0.35465	CTA		0.408	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435	
ZNF211	10520	broad.mit.edu	37	19	58146006	58146006	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58146006A>G	ENST00000347302.3	+	2	279	c.100A>G	c.(100-102)Acc>Gcc	p.T34A	ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000240731.4_Missense_Mutation_p.T47A|ZNF211_ENST00000420680.1_Missense_Mutation_p.T38A|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000544273.1_Missense_Mutation_p.T46A|ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000299871.5_Missense_Mutation_p.T47A	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T47A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAAGTGTGACCTTTGAAGA	0.468																																					p.T34A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A100G	19						.						269.0	228.0	242.0					19																	58146006		2203	4300	6503	62837818	SO:0001583	missense	10520	exon2			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.100A>G	19.37:g.58146006A>G	ENSP00000339562:p.Thr34Ala		62837818	NM_198855	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.671|9.671	1.146627|1.146627	0.21288|0.21288	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000407202|ENST00000420680;ENST00000347302;ENST00000299871;ENST00000544273;ENST00000240731	.|T;T;T;T;T	.|0.02812	.|4.15;4.15;4.15;4.15;4.15	2.66|2.66	0.295|0.295	0.15752|0.15752	.|Krueppel-associated box (4);	.|.	.|.	.|.	.|.	T|T	0.03959|0.03959	0.0111|0.0111	M|M	0.74881|0.74881	2.28|2.28	0.23607|0.23607	N|N	0.997307|0.997307	.|B;B;B;B;B	.|0.24186	.|0.001;0.015;0.099;0.018;0.002	.|B;B;B;B;B	.|0.22753	.|0.004;0.011;0.041;0.019;0.007	T|T	0.40701|0.40701	-0.9549|-0.9549	5|9	.|0.33940	.|T	.|0.23	.|.	2.9282|2.9282	0.05791|0.05791	0.6453:0.0:0.138:0.2166|0.6453:0.0:0.138:0.2166	.|.	.|38;46;47;34;47	.|Q13398-4;Q13398-3;F8WDV2;Q13398;B9ZVW1	.|.;.;.;ZN211_HUMAN;.	G|A	37|38;34;47;46;47	.|ENSP00000399193:T38A;ENSP00000339562:T34A;ENSP00000299871:T47A;ENSP00000441386:T46A;ENSP00000240731:T47A	.|ENSP00000240731:T47A	D|T	+|+	2|1	0|0	ZNF211|ZNF211	62837818|62837818	0.802000|0.802000	0.28943|0.28943	0.608000|0.608000	0.28969|0.28969	0.939000|0.939000	0.58152|0.58152	1.311000|1.311000	0.33562|0.33562	-0.119000|-0.119000	0.11830|0.11830	0.260000|0.260000	0.18958|0.18958	GAC|ACC		0.468	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1		
ZNF154	7710	broad.mit.edu	37	19	58213694	58213694	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58213694C>T	ENST00000512439.2	-	3	819	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	ZNF154_ENST00000426889.1_Missense_Mutation_p.R208Q|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R208Q(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAACTCTCCGGTGCTGAAT	0.438																																					p.R208Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	19						.						100.0	100.0	100.0					19																	58213694		2190	4290	6480	62905506	SO:0001583	missense	7710	exon3			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.623G>A	19.37:g.58213694C>T	ENSP00000421258:p.Arg208Gln		62905506	NM_001085384	A7MCY3|Q8IVG7|Q8NAR0	Missense_Mutation	SNP	ENST00000512439.2	37	CCDS42639.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559795	0.27827	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.17691	2.26;2.26	2.82	0.515	0.17013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.15975	0.35	0.09310	N	1	B	0.31026	0.304	B	0.17722	0.019	T	0.33033	-0.9884	9	0.02654	T	1	.	3.181	0.06584	0.0:0.5015:0.2292:0.2693	.	208	Q13106	ZN154_HUMAN	Q	208	ENSP00000421258:R208Q;ENSP00000442370:R208Q	ENSP00000442370:R208Q	R	-	2	0	ZNF154	62905506	0.000000	0.05858	0.005000	0.12908	0.971000	0.66376	-0.986000	0.03747	0.226000	0.20979	0.561000	0.74099	CGG		0.438	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2		
ZNF586	54807	broad.mit.edu	37	19	58291102	58291102	+	Missense_Mutation	SNP	C	C	T	rs369596169		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58291102C>T	ENST00000396154.2	+	3	1320	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000391702.3_Missense_Mutation_p.R340C|ZNF586_ENST00000599802.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R383C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAATCATTTCGCCACAGTTC	0.423																																					p.R383C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1147T	19						.	C	,CYS/ARG,CYS/ARG	0,4386		0,0,2193	86.0	87.0	87.0		,1018,1147	-0.2	0.0	19		87	2,8586	1.2+/-3.3	0,2,4292	no	utr-3,missense,missense	ZNF586	NM_001077426.2,NM_001204814.1,NM_017652.3	,180,180	0,2,6485	TT,TC,CC		0.0233,0.0,0.0154	,probably-damaging,probably-damaging	,340/360,383/403	58291102	2,12972	2193	4294	6487	62982914	SO:0001583	missense	54807	exon3			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.1147C>T	19.37:g.58291102C>T	ENSP00000379458:p.Arg383Cys		62982914	NM_017652	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880541	0.33255	0.0	2.33E-4	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.01025	5.43;5.43	1.07	-0.166	0.13351	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.25647	0.755	0.09310	N	1	D	0.67145	0.996	D	0.64877	0.93	T	0.53092	-0.8487	9	0.62326	D	0.03	.	6.6565	0.22990	0.5112:0.4887:0.0:0.0	.	383	Q9NXT0	ZN586_HUMAN	C	383;340;383	ENSP00000375583:R340C;ENSP00000379458:R383C	ENSP00000375583:R340C	R	+	1	0	ZNF586	62982914	0.018000	0.18449	0.002000	0.10522	0.442000	0.32017	0.092000	0.15066	-0.043000	0.13513	0.655000	0.94253	CGC		0.423	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652	
ZNF135	7694	broad.mit.edu	37	19	58578756	58578756	+	Missense_Mutation	SNP	G	G	A	rs536588023	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58578756G>A	ENST00000313434.5	+	5	1005	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ZNF135_ENST00000401053.4_Missense_Mutation_p.E326K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E314K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E314K|ZNF135_ENST00000506786.1_Missense_Mutation_p.E260K|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.E302K	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	302					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E302K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TGAATGCAGCGAATGTGGGAA	0.522													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20978	0.001		0.0	False		,,,				2504	0.0				p.E314K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G940A	19						.						78.0	76.0	77.0					19																	58578756		2203	4300	6503	63270568	SO:0001583	missense	7694	exon5			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.904G>A	19.37:g.58578756G>A	ENSP00000321406:p.Glu302Lys		63270568	NM_003436	B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37		.	.	.	.	.	.	.	.	.	.	G	10.68	1.419214	0.25552	.	.	ENSG00000176293	ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2	3.19	0.757	0.18427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14141	0.0342	L	0.33093	0.98	0.09310	N	1	D;D;B	0.89917	0.999;1.0;0.111	D;D;B	0.80764	0.97;0.994;0.02	T	0.17137	-1.0379	9	0.62326	D	0.03	.	4.1875	0.10405	0.2535:0.1975:0.549:0.0	.	314;302;314	E9PEV2;P52742;Q8N1I7	.;ZN135_HUMAN;.	K	314;326;314;302;302;314;260	ENSP00000441410:E326K;ENSP00000369437:E314K;ENSP00000444828:E302K;ENSP00000321406:E302K;ENSP00000422074:E314K;ENSP00000427691:E260K	ENSP00000321406:E302K	E	+	1	0	ZNF135	63270568	0.000000	0.05858	0.372000	0.25991	0.025000	0.11179	-1.104000	0.03326	0.652000	0.30806	0.563000	0.77884	GAA		0.522	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	
ZNF274	10782	broad.mit.edu	37	19	58724216	58724216	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58724216C>A	ENST00000326804.4	+	9	2125	c.1666C>A	c.(1666-1668)Cat>Aat	p.H556N	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.H524N|ZNF274_ENST00000424679.2_Missense_Mutation_p.H451N	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H524N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCAGAGAGTTCATTCTGGAGA	0.507																																					p.F524L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1572A	19						.						84.0	92.0	89.0					19																	58724216		2074	4233	6307	63416028	SO:0001583	missense	10782	exon7			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1666C>A	19.37:g.58724216C>A	ENSP00000321209:p.His556Asn		63416028	NM_016325	Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.025364	0.75390	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.67345	-0.26;-0.26;-0.26	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38837	N	0.001543	T	0.82107	0.4965	.	.	.	0.51482	D	0.999925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83983	0.0333	9	0.87932	D	0	-24.1472	16.4151	0.83731	0.0:1.0:0.0:0.0	.	452;525;557	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	N	556;524;451	ENSP00000321209:H556N;ENSP00000321187:H524N;ENSP00000409872:H451N	ENSP00000321209:H556N	H	+	1	0	ZNF274	63416028	0.999000	0.42202	0.957000	0.39632	0.988000	0.76386	4.510000	0.60455	2.737000	0.93849	0.655000	0.94253	CAT		0.507	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502	
A1BG	1	broad.mit.edu	37	19	58864529	58864529	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58864529G>A	ENST00000263100.3	-	3	166	c.105C>T	c.(103-105)tcC>tcT	p.S35S	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	35	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S35S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCAGTGATTCGGACTCTGCCC	0.632																																					p.S35S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C105T	19						.						109.0	106.0	107.0					19																	58864529		2203	4300	6503	63556341	SO:0001819	synonymous_variant	1	exon3				CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.105C>T	19.37:g.58864529G>A			63556341	NM_130786	A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	CCDS12976.1																																																																																				0.632	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786	
ZNF584	201514	broad.mit.edu	37	19	58928563	58928563	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:58928563G>A	ENST00000306910.4	+	4	1201	c.678G>A	c.(676-678)ccG>ccA	p.P226P	ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000593920.1_Silent_p.P181P|CTD-2619J13.16_ENST00000596296.1_lincRNA	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P226P(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TCAGTTACCCGTCTAAGCTGA	0.443																																					p.P226P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G678A	19						.						67.0	66.0	66.0					19																	58928563		2203	4300	6503	63620375	SO:0001819	synonymous_variant	201514	exon4			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.678G>A	19.37:g.58928563G>A			63620375	NM_173548	A8K203	Silent	SNP	ENST00000306910.4	37	CCDS12979.1																																																																																				0.443	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548	
CD70	970	broad.mit.edu	37	19	6586039	6586039	+	Missense_Mutation	SNP	G	G	A	rs182050995		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:6586039G>A	ENST00000245903.3	-	3	723	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	CD70_ENST00000423145.3_Intron	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	192					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)	p.R192C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						GGTCAGGGGCGCACCCACTGC	0.507													g|||	1	0.000199681	0.0	0.0014	5008	,	,		16553	0.0		0.0	False		,,,				2504	0.0				p.R192C	Pancreas(183;2617 2876 10173 34193)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C574T	19						.						42.0	36.0	38.0					19																	6586039		2203	4300	6503	6537039	SO:0001583	missense	970	exon3			L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11937	protein-coding gene	gene with protein product		602840	"""tumor necrosis factor (ligand) superfamily, member 7"""	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.574C>T	19.37:g.6586039G>A	ENSP00000245903:p.Arg192Cys		6537039	NM_001252	B4DPR8|Q53XX4|Q96J57	Missense_Mutation	SNP	ENST00000245903.3	37	CCDS12170.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.615	0.889979	0.17540	.	.	ENSG00000125726	ENST00000245903	.	.	.	4.32	0.578	0.17391	.	0.530353	0.17338	N	0.177829	T	0.16128	0.0388	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13229	-1.0517	9	0.33141	T	0.24	.	4.1432	0.10203	0.2241:0.1934:0.5826:0.0	.	192	P32970	CD70_HUMAN	C	192	.	ENSP00000245903:R192C	R	-	1	0	CD70	6537039	0.001000	0.12720	0.252000	0.24328	0.048000	0.14542	0.655000	0.24933	0.384000	0.24942	0.556000	0.70494	CGC		0.507	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457860.1		
TNFSF14	8740	broad.mit.edu	37	19	6665058	6665058	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:6665058C>T	ENST00000599359.1	-	5	983	c.602G>A	c.(601-603)aGc>aAc	p.S201N	TNFSF14_ENST00000326176.9_Missense_Mutation_p.S165N|TNFSF14_ENST00000245912.3_Missense_Mutation_p.S165N			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	201					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.S201N(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCCAGGAAGCTGCTGTCCCA	0.652																																					p.S201N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G602A	19						.						91.0	78.0	82.0					19																	6665058		2203	4300	6503	6616058	SO:0001583	missense	8740	exon5			AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.602G>A	19.37:g.6665058C>T	ENSP00000469049:p.Ser201Asn		6616058	NM_003807	A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758465	0.69763	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	D	0.94650	-3.48	4.46	4.46	0.54185	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	L	0.61036	1.89	0.38365	D	0.944703	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	D	0.97256	0.9901	10	0.48119	T	0.1	-2.6206	15.9041	0.79406	0.0:1.0:0.0:0.0	.	201;165	O43557;O43557-2	TNF14_HUMAN;.	N	201;165	ENSP00000326940:S165N	ENSP00000245912:S201N	S	-	2	0	TNFSF14	6616058	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	4.710000	0.61873	2.038000	0.60285	0.561000	0.74099	AGC		0.652	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1		
C3	718	broad.mit.edu	37	19	6697759	6697759	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:6697759G>T	ENST00000245907.6	-	20	2579	c.2487C>A	c.(2485-2487)ttC>ttA	p.F829L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	829					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGTCGATGAAGAAGTCCTGCA	0.562																																					p.F829L												.	.	0			c.C2487A	19						.						47.0	42.0	44.0					19																	6697759		2203	4300	6503	6648759	SO:0001583	missense	718	exon20			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2487C>A	19.37:g.6697759G>T	ENSP00000245907:p.Phe829Leu		6648759	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564286	0.86335	.	.	ENSG00000125730	ENST00000245907	T	0.28666	1.6	5.96	5.96	0.96718	Alpha-2-macroglobulin (1);	0.047753	0.85682	D	0.000000	T	0.63058	0.2479	M	0.87682	2.9	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.64058	-0.6496	10	0.46703	T	0.11	.	19.1907	0.93664	0.0:0.0:1.0:0.0	.	829	P01024	CO3_HUMAN	L	829	ENSP00000245907:F829L	ENSP00000245907:F829L	F	-	3	2	C3	6648759	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	5.842000	0.69417	2.831000	0.97527	0.650000	0.86243	TTC		0.562	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
HNRNPM	4670	broad.mit.edu	37	19	8548043	8548043	+	Splice_Site	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:8548043A>C	ENST00000325495.4	+	13	1163	c.1122A>C	c.(1120-1122)gaA>gaC	p.E374D	HNRNPM_ENST00000348943.3_Splice_Site_p.E335D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	374					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.E374D(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TTTCCTTAGAAATCCTAAGTA	0.353																																					p.E374D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1122C	19						.						147.0	143.0	145.0					19																	8548043		2203	4300	6503	8454043	SO:0001630	splice_region_variant	4670	exon13			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1121-1A>C	19.37:g.8548043A>C			8454043	NM_005968	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114659	0.37339	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.14516	2.5;2.83	4.54	4.54	0.55810	.	0.522841	0.20375	N	0.093563	T	0.09905	0.0243	L	0.28649	0.875	0.42950	D	0.994375	B;B;B;B	0.22211	0.0;0.016;0.066;0.016	B;B;B;B	0.26310	0.001;0.007;0.068;0.031	T	0.12502	-1.0545	10	0.10902	T	0.67	.	10.5739	0.45217	1.0:0.0:0.0:0.0	.	214;374;335;259	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	D	374;335;259	ENSP00000325376:E374D;ENSP00000325732:E335D	ENSP00000325376:E374D	E	+	3	2	HNRNPM	8454043	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.221000	0.42917	2.277000	0.76020	0.528000	0.53228	GAA		0.353	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		Missense_Mutation
MBD3L1	85509	broad.mit.edu	37	19	8953931	8953931	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:8953931A>C	ENST00000595891.1	+	3	808	c.577A>C	c.(577-579)Aaa>Caa	p.K193Q	MBD3L1_ENST00000305625.2_Missense_Mutation_p.K193Q			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K193Q(1)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CCGTCCTGAAAAACGCTAAGA	0.418																																					p.K193Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A577C	19						.						27.0	26.0	26.0					19																	8953931		2199	4298	6497	8814931	SO:0001583	missense	85509	exon1			AY038022	CCDS12209.1	19p13.2	2011-01-31	2003-03-19	2003-03-21	ENSG00000170948	ENSG00000170948			15774	protein-coding gene	gene with protein product		607963	"""methyl-CpG binding domain protein 3-like"""	MBD3L		12504854	Standard	NM_145208		Approved		uc002mko.2	Q8WWY6		ENST00000595891.1:c.577A>C	19.37:g.8953931A>C	ENSP00000471575:p.Lys193Gln		8814931	NM_145208	B5BUM6|Q2M291	Missense_Mutation	SNP	ENST00000595891.1	37	CCDS12209.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281266	0.40394	.	.	ENSG00000170948	ENST00000305625	T	0.51071	0.72	3.46	-0.0584	0.13797	.	.	.	.	.	T	0.32585	0.0834	L	0.44542	1.39	0.09310	N	1	B	0.32302	0.363	B	0.25291	0.059	T	0.21245	-1.0251	9	0.66056	D	0.02	.	4.333	0.11073	0.4696:0.412:0.1183:0.0	.	193	Q8WWY6	MB3L1_HUMAN	Q	193	ENSP00000304198:K193Q	ENSP00000304198:K193Q	K	+	1	0	MBD3L1	8814931	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.172000	0.16704	-0.097000	0.12307	0.482000	0.46254	AAA		0.418	MBD3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459973.1	NM_145208	
MUC16	94025	broad.mit.edu	37	19	8993521	8993521	+	Silent	SNP	G	G	A	rs561651057	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:8993521G>A	ENST00000397910.4	-	66	41771	c.41568C>T	c.(41566-41568)acC>acT	p.T13856T	MUC16_ENST00000380951.5_Silent_p.T497T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13859	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T13856T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCCACTCCGGTGGCTTCCC	0.592													A|||	3	0.000599042	0.0	0.0	5008	,	,		19029	0.0		0.0	False		,,,				2504	0.0031				p.T13856T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C41568T	19						.						58.0	56.0	56.0					19																	8993521		1925	4140	6065	8854521	SO:0001819	synonymous_variant	94025	exon66			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41568C>T	19.37:g.8993521G>A			8854521	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	1.403	-0.577528	0.03854	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.47	-6.93	0.01638	.	.	.	.	.	T	0.17365	0.0417	.	.	.	.	.	.	.	.	.	.	.	.	T	0.03630	-1.1018	3	.	.	.	.	2.5014	0.04634	0.4952:0.0829:0.1223:0.2996	.	.	.	.	L	696	.	.	P	-	2	0	MUC16	8854521	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-8.745000	0.00017	-4.657000	0.00037	-2.197000	0.00309	CCG		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9000518	9000518	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9000518T>C	ENST00000397910.4	-	54	40669	c.40466A>G	c.(40465-40467)aAc>aGc	p.N13489S	MUC16_ENST00000380951.5_Missense_Mutation_p.N130S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13491	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.N174S(1)|p.N13489S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATACCGCAGGTTAGTGATGGT	0.463																																					p.N13489S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A40466G	19						.						178.0	151.0	159.0					19																	9000518		1957	4141	6098	8861518	SO:0001583	missense	94025	exon54			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40466A>G	19.37:g.9000518T>C	ENSP00000381008:p.Asn13489Ser		8861518	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.48|11.48	1.651141|1.651141	0.29336|0.29336	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.51574|.	0.7;0.7|.	2.9|2.9	1.86|1.86	0.25419|0.25419	SEA (3);|.	.|.	.|.	.|.	.|.	T|T	0.48840|0.48840	0.1522|0.1522	M|M	0.67397|0.67397	2.05|2.05	.|.	.|.	.|.	B;P|.	0.51537|.	0.026;0.946|.	B;D|.	0.70227|.	0.036;0.968|.	T|T	0.54794|0.54794	-0.8240|-0.8240	8|4	0.87932|.	D|.	0|.	-26.0437|-26.0437	4.8346|4.8346	0.13458|0.13458	0.0:0.1555:0.0:0.8445|0.0:0.1555:0.0:0.8445	.|.	21134;13489|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	S|A	13489;130|329	ENSP00000381008:N13489S;ENSP00000370338:N130S|.	ENSP00000370338:N130S|.	N|T	-|-	2|1	0|0	MUC16|MUC16	8861518|8861518	0.988000|0.988000	0.35896|0.35896	0.083000|0.083000	0.20561|0.20561	0.004000|0.004000	0.04260|0.04260	1.176000|1.176000	0.31957|0.31957	0.333000|0.333000	0.23563|0.23563	0.254000|0.254000	0.18369|0.18369	AAC|ACC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9049298	9049298	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9049298G>A	ENST00000397910.4	-	5	32536	c.32333C>T	c.(32332-32334)tCg>tTg	p.S10778L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10780	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S10778L(1)|p.S6411L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAATGGCCGAACTTGTCTG	0.473																																					p.S10778L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C32333T	19						.						141.0	130.0	133.0					19																	9049298		1972	4169	6141	8910298	SO:0001583	missense	94025	exon5			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32333C>T	19.37:g.9049298G>A	ENSP00000381008:p.Ser10778Leu		8910298	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.825	0.521396	0.13005	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.05	-2.28	0.06826	.	.	.	.	.	T	0.02418	0.0074	L	0.32530	0.975	.	.	.	B	0.17268	0.021	B	0.14578	0.011	T	0.40136	-0.9579	8	0.87932	D	0	.	4.8149	0.13362	0.1135:0.0:0.3482:0.5383	.	10778	B5ME49	.	L	10778	ENSP00000381008:S10778L	ENSP00000381008:S10778L	S	-	2	0	MUC16	8910298	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.192000	0.17096	-0.300000	0.08895	-1.590000	0.00845	TCG		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9061629	9061629	+	Missense_Mutation	SNP	C	C	T	rs182118027		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9061629C>T	ENST00000397910.4	-	3	26020	c.25817G>A	c.(25816-25818)cGc>cAc	p.R8606H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8608	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R8606H(4)|p.R4239H(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGCTTGTGCGCAACATGTC	0.468													c|||	1	0.000199681	0.0	0.0014	5008	,	,		22709	0.0		0.0	False		,,,				2504	0.0				p.R8606H												.	.	6	Substitution - Missense(6)	large_intestine(6)	c.G25817A	19						.						129.0	121.0	124.0					19																	9061629		2036	4197	6233	8922629	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25817G>A	19.37:g.9061629C>T	ENSP00000381008:p.Arg8606His		8922629	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	c	0.920	-0.716105	0.03206	.	.	ENSG00000181143	ENST00000397910	T	0.22743	1.94	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06371	0.0164	N	0.14661	0.345	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.23547	-1.0185	8	0.87932	D	0	.	1.9979	0.03460	0.1294:0.1584:0.3869:0.3253	.	8606	B5ME49	.	H	8606	ENSP00000381008:R8606H	ENSP00000381008:R8606H	R	-	2	0	MUC16	8922629	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.534000	0.06150	-2.834000	0.00338	-2.864000	0.00100	CGC		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9066570	9066570	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9066570G>A	ENST00000397910.4	-	3	21079	c.20876C>T	c.(20875-20877)tCc>tTc	p.S6959F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6961	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6959F(2)|p.S2592F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCATTTTGGGAAATGCTGGT	0.448																																					p.S6959F												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C20876T	19						.						141.0	138.0	139.0					19																	9066570		1927	4148	6075	8927570	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20876C>T	19.37:g.9066570G>A	ENSP00000381008:p.Ser6959Phe		8927570	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.245	0.044411	0.08196	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.88	-2.21	0.06973	.	.	.	.	.	T	0.03871	0.0109	L	0.53249	1.67	.	.	.	P	0.39071	0.658	B	0.43274	0.414	T	0.32295	-0.9912	8	0.87932	D	0	.	2.8007	0.05414	0.3831:0.0:0.4141:0.2027	.	6959	B5ME49	.	F	6959	ENSP00000381008:S6959F	ENSP00000381008:S6959F	S	-	2	0	MUC16	8927570	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.072000	0.01377	-0.334000	0.08463	0.407000	0.27541	TCC		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9067148	9067148	+	Silent	SNP	C	C	T	rs267605796		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9067148C>T	ENST00000397910.4	-	3	20501	c.20298G>A	c.(20296-20298)tcG>tcA	p.S6766S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6768	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6766S(2)|p.S2399S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTCGCCATCGAGTGTGTTC	0.483																																					p.S6766S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G20298A	19						.						249.0	245.0	246.0					19																	9067148		2201	4296	6497	8928148	SO:0001819	synonymous_variant	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20298G>A	19.37:g.9067148C>T			8928148	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9067385	9067385	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9067385C>A	ENST00000397910.4	-	3	20264	c.20061G>T	c.(20059-20061)gaG>gaT	p.E6687D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6689	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E6687D(2)|p.E2320D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTAGAGGTCTCAGTAGCAC	0.537																																					p.E6687D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G20061T	19						.						206.0	198.0	201.0					19																	9067385		2020	4179	6199	8928385	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20061G>T	19.37:g.9067385C>A	ENSP00000381008:p.Glu6687Asp		8928385	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.443	0.266882	0.10294	.	.	ENSG00000181143	ENST00000397910	T	0.02606	4.23	2.53	0.128	0.14733	.	.	.	.	.	T	0.01905	0.0060	L	0.39898	1.24	.	.	.	P	0.46020	0.871	B	0.28916	0.096	T	0.46034	-0.9220	8	0.87932	D	0	.	2.7208	0.05200	0.2799:0.5532:0.0:0.1669	.	6687	B5ME49	.	D	6687	ENSP00000381008:E6687D	ENSP00000381008:E6687D	E	-	3	2	MUC16	8928385	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.626000	0.05527	0.102000	0.17638	0.386000	0.25728	GAG		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9070618	9070618	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9070618G>A	ENST00000397910.4	-	3	17031	c.16828C>T	c.(16828-16830)Cgg>Tgg	p.R5610W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5612	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R5610W(2)|p.R1243W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCTGCTCCGAAGAGTGGTT	0.527																																					p.R5610W												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C16828T	19						.						86.0	82.0	83.0					19																	9070618		1930	4122	6052	8931618	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16828C>T	19.37:g.9070618G>A	ENSP00000381008:p.Arg5610Trp		8931618	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	11.52	1.663264	0.29515	.	.	ENSG00000181143	ENST00000397910	T	0.22134	1.97	1.44	-2.88	0.05682	.	.	.	.	.	T	0.13927	0.0337	N	0.08118	0	.	.	.	D	0.71674	0.998	P	0.53102	0.718	T	0.25433	-1.0132	8	0.87932	D	0	.	4.9237	0.13883	0.0:0.1711:0.5727:0.2562	.	5610	B5ME49	.	W	5610	ENSP00000381008:R5610W	ENSP00000381008:R5610W	R	-	1	2	MUC16	8931618	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.657000	0.05335	-1.671000	0.01466	-1.196000	0.01674	CGG		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9074162	9074162	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9074162C>A	ENST00000397910.4	-	3	13487	c.13284G>T	c.(13282-13284)aaG>aaT	p.K4428N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4430	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.K4428N(2)|p.K61N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGAGTGGTCTTCTCTGATT	0.493																																					p.K4428N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G13284T	19						.						147.0	142.0	144.0					19																	9074162		2023	4182	6205	8935162	SO:0001583	missense	94025	exon3			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13284G>T	19.37:g.9074162C>A	ENSP00000381008:p.Lys4428Asn		8935162	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	9.217	1.032380	0.19590	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	1.91	-0.511	0.11970	.	.	.	.	.	T	0.14917	0.0360	N	0.22421	0.69	.	.	.	P	0.46020	0.871	P	0.46850	0.529	T	0.19516	-1.0303	8	0.87932	D	0	.	3.0143	0.06054	0.0:0.5191:0.2916:0.1893	.	4428	B5ME49	.	N	4428	ENSP00000381008:K4428N	ENSP00000381008:K4428N	K	-	3	2	MUC16	8935162	0.000000	0.05858	0.002000	0.10522	0.783000	0.44284	-0.750000	0.04808	-0.047000	0.13423	0.305000	0.20034	AAG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9084542	9084542	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9084542C>T	ENST00000397910.4	-	1	7476	c.7273G>A	c.(7273-7275)Gcc>Acc	p.A2425T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2425	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.A2425T(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGAGGTGGCTGTATTTGTC	0.502																																					p.A2425T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G7273A	19						.						83.0	86.0	85.0					19																	9084542		1977	4156	6133	8945542	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7273G>A	19.37:g.9084542C>T	ENSP00000381008:p.Ala2425Thr		8945542	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.101	0.574135	0.13623	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.225	0.225	0.15325	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.60575	0.988	P	0.62885	0.908	T	0.45818	-0.9235	7	0.87932	D	0	.	.	.	.	.	2425	B5ME49	.	T	2425	ENSP00000381008:A2425T	ENSP00000381008:A2425T	A	-	1	0	MUC16	8945542	0.008000	0.16893	0.429000	0.26710	0.433000	0.31745	-0.718000	0.04980	0.300000	0.22699	0.305000	0.20034	GCC		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9086115	9086115	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9086115C>T	ENST00000397910.4	-	1	5903	c.5700G>A	c.(5698-5700)gaG>gaA	p.E1900E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1900	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E1900E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCACTCTTCTCTGTGTAAG	0.502																																					p.E1900E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G5700A	19						.						97.0	90.0	92.0					19																	9086115		1946	4155	6101	8947115	SO:0001819	synonymous_variant	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5700G>A	19.37:g.9086115C>T			8947115	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	broad.mit.edu	37	19	9090741	9090741	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9090741C>A	ENST00000397910.4	-	1	1277	c.1074G>T	c.(1072-1074)aaG>aaT	p.K358N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	358	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.K358N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCTGTCTGCTTTGTGGATA	0.478																																					p.K358N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1074T	19						.						94.0	90.0	91.0					19																	9090741		2033	4197	6230	8951741	SO:0001583	missense	94025	exon1			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1074G>T	19.37:g.9090741C>A	ENSP00000381008:p.Lys358Asn		8951741	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.141	-0.396692	0.04899	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.38	0.278	0.15673	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.42949	-0.9421	8	0.87932	D	0	.	3.0507	0.06168	0.0:0.3118:0.0:0.6882	.	358	B5ME49	.	N	358	ENSP00000381008:K358N	ENSP00000381008:K358N	K	-	3	2	MUC16	8951741	0.001000	0.12720	0.005000	0.12908	0.043000	0.13939	0.153000	0.16323	0.030000	0.15379	0.313000	0.20887	AAG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR7E24	26648	broad.mit.edu	37	19	9362191	9362191	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9362191C>A	ENST00000456448.1	+	1	586	c.472C>A	c.(472-474)Ctc>Atc	p.L158I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L158I(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GAACCCACGCCTCTGTGGCTT	0.453																																					p.L158I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C472A	19						.						130.0	144.0	139.0					19																	9362191		2188	4291	6479	9223191	SO:0001583	missense	26648	exon1			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.472C>A	19.37:g.9362191C>A	ENSP00000387523:p.Leu158Ile		9223191	NM_001079935	B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	7.055	0.565161	0.13498	.	.	ENSG00000237521	ENST00000456448	T	0.00174	8.62	2.39	-1.33	0.09172	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.48986	1.54	0.09310	N	1	B	0.34241	0.444	B	0.34931	0.192	T	0.22417	-1.0217	9	0.62326	D	0.03	.	1.3633	0.02196	0.1683:0.4286:0.1659:0.2372	.	158	Q6IFN5	O7E24_HUMAN	I	158	ENSP00000387523:L158I	ENSP00000387523:L158I	L	+	1	0	OR7E24	9223191	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.488000	0.00118	-0.043000	0.13513	-0.477000	0.04895	CTC		0.453	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1		
ZNF560	147741	broad.mit.edu	37	19	9580346	9580346	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:9580346C>A	ENST00000301480.4	-	8	702	c.489G>T	c.(487-489)gaG>gaT	p.E163D		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	163	KRAB 2. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E163D(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTTCCTCTTCCTCCAGCCAAG	0.473																																					p.E163D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G489T	19						.						123.0	103.0	110.0					19																	9580346		2203	4300	6503	9441346	SO:0001583	missense	147741	exon8			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.489G>T	19.37:g.9580346C>A	ENSP00000301480:p.Glu163Asp		9441346	NM_152476	Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525969	0.44969	.	.	ENSG00000198028	ENST00000301480	T	0.01113	5.32	2.43	-1.79	0.07932	Krueppel-associated box (3);	.	.	.	.	T	0.03739	0.0106	M	0.73319	2.225	0.09310	N	0.999992	D	0.76494	0.999	D	0.66716	0.946	T	0.35549	-0.9784	9	0.28530	T	0.3	.	6.6723	0.23076	0.0:0.4958:0.0:0.5042	.	163	Q96MR9	ZN560_HUMAN	D	163	ENSP00000301480:E163D	ENSP00000301480:E163D	E	-	3	2	ZNF560	9441346	0.089000	0.21612	0.134000	0.22075	0.823000	0.46562	0.087000	0.14958	-0.205000	0.10219	-0.379000	0.06801	GAG		0.473	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476	
ZNF826P	664701	broad.mit.edu	37	19	20577815	20577815	+	RNA	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:20577815G>T	ENST00000502675.1	-	0	1437				MIR1270-2_ENST00000408220.1_RNA	NR_036455.1		Q6ZT77	ZN826_HUMAN	zinc finger protein 826, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(4)	4						TCTCCAGTATGAATCTTCTCA	0.383																																					.												.	.	0			.	19						.																																			20369655			664701	.			BC016785		19p12	2010-08-03	2010-08-03	2010-08-03	ENSG00000231205	ENSG00000231205			33875	pseudogene	pseudogene			"""zinc finger protein 826"""	ZNF826			Standard	NR_036455		Approved	FLJ44894	uc021urn.2	Q6ZT77	OTTHUMG00000162773		19.37:g.20577815G>T			20369655	.		Missense_Mutation	SNP	ENST00000502675.1	37																																																																																					0.383	ZNF826P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000370365.1	NM_001039884	
PRR19	284338	broad.mit.edu	37	19	42814422	42814422	+	Splice_Site	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:42814422G>T	ENST00000499536.2	+	2	1412		c.e2-1		PRR19_ENST00000598490.1_Missense_Mutation_p.R229M|PRR19_ENST00000341747.3_Splice_Site			A6NJB7	PRR19_HUMAN	proline rich 19									p.?(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CTCTGTGCCAGGGGCCAAGCC	0.567																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	19						.						46.0	50.0	49.0					19																	42814422		2203	4300	6503	47506262	SO:0001630	splice_region_variant	284338	.			AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.602-1G>T	19.37:g.42814422G>T			47506262	.	A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910850	0.33721	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.33	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0764	0.30718	0.1081:0.0:0.8919:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRR19	47506262	1.000000	0.71417	0.954000	0.39281	0.693000	0.40251	4.451000	0.60047	1.411000	0.46957	0.655000	0.94253	.		0.567	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285	Intron
CHMP2A	27243	broad.mit.edu	37	19	59063754	59063754	+	Missense_Mutation	SNP	G	G	A	rs376979258		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr19:59063754G>A	ENST00000600118.1	-	2	645	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	CHMP2A_ENST00000601220.1_Missense_Mutation_p.R74C|CHMP2A_ENST00000312547.2_Missense_Mutation_p.R74C			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	74	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)	p.R74C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACAAACTTGCGCACATAGCGC	0.517																																					p.R74C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C220T	19						.	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	139.0	125.0	130.0		220,220	2.8	1.0	19		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHMP2A	NM_014453.2,NM_198426.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	74/223,74/223	59063754	1,13005	2203	4300	6503	63755566	SO:0001583	missense	27243	exon3			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.220C>T	19.37:g.59063754G>A	ENSP00000469240:p.Arg74Cys		63755566	NM_198426	B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128603	0.56721	0.0	1.16E-4	ENSG00000130724	ENST00000312547	T	0.72394	-0.65	5.21	2.8	0.32819	.	0.063541	0.64402	D	0.000011	T	0.66228	0.2768	N	0.19112	0.55	0.53688	D	0.999974	D	0.57899	0.981	P	0.56788	0.806	T	0.67925	-0.5544	10	0.52906	T	0.07	.	10.6425	0.45600	0.0:0.0:0.4886:0.5114	.	74	O43633	CHM2A_HUMAN	C	74	ENSP00000310440:R74C	ENSP00000310440:R74C	R	-	1	0	CHMP2A	63755566	1.000000	0.71417	0.965000	0.40720	0.251000	0.25915	5.015000	0.64035	1.324000	0.45282	-0.181000	0.13052	CGC		0.517	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1	NM_014453	
AGL	178	broad.mit.edu	37	1	100336031	100336031	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:100336031C>T	ENST00000294724.4	+	6	1218	c.740C>T	c.(739-741)gCc>gTc	p.A247V	AGL_ENST00000370165.3_Missense_Mutation_p.A247V|AGL_ENST00000361302.3_Missense_Mutation_p.A231V|AGL_ENST00000370161.2_Missense_Mutation_p.A231V|AGL_ENST00000370163.3_Missense_Mutation_p.A247V|AGL_ENST00000361522.4_Missense_Mutation_p.A230V|AGL_ENST00000361915.3_Missense_Mutation_p.A247V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	247					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTAAAACCTGCCTGGGTCTTA	0.413																																					p.A230V												.	.	0			c.C689T	1						.						99.0	98.0	98.0					1																	100336031		2203	4300	6503	100108619	SO:0001583	missense	178	exon4			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.740C>T	1.37:g.100336031C>T	ENSP00000294724:p.Ala247Val		100108619	NM_000645	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	c	33	5.235347	0.95207	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.37	5.37	0.77165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	M	0.89287	3.02	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.994	D;D;D	0.70016	0.967;0.967;0.928	D	0.96087	0.9058	10	0.87932	D	0	.	19.4745	0.94982	0.0:1.0:0.0:0.0	.	230;231;247	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	V	247;247;247;247;231;231;230	ENSP00000355106:A247V;ENSP00000359184:A247V;ENSP00000359182:A247V;ENSP00000294724:A247V;ENSP00000354971:A231V;ENSP00000359180:A231V;ENSP00000354635:A230V	ENSP00000294724:A247V	A	+	2	0	AGL	100108619	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.722000	0.84778	2.677000	0.91161	0.585000	0.79938	GCC		0.413	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
VCAM1	7412	broad.mit.edu	37	1	101203819	101203819	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:101203819G>A	ENST00000294728.2	+	9	2301	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	VCAM1_ENST00000347652.2_Missense_Mutation_p.A642T|VCAM1_ENST00000370119.4_Missense_Mutation_p.A672T|VCAM1_ENST00000370115.1_Missense_Mutation_p.A535T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	734					acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.A734T(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TCTTGTAGAAGCACAGAAGTC	0.373																																					p.A672T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2014A	1						.						94.0	94.0	94.0					1																	101203819		2203	4300	6503	100976407	SO:0001583	missense	7412	exon9			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.2200G>A	1.37:g.101203819G>A	ENSP00000294728:p.Ala734Thr		100976407	NM_001199834	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650723	0.67472	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.64803	0.38;-0.12;0.83;0.68	5.9	5.9	0.94986	.	0.113419	0.64402	D	0.000019	T	0.62720	0.2451	L	0.32530	0.975	0.31225	N	0.697034	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.971;0.999;0.997	T	0.62854	-0.6766	10	0.48119	T	0.1	-23.4605	15.8299	0.78743	0.0:0.0:0.8636:0.1364	.	672;642;734	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	T	672;642;734;535	ENSP00000359137:A672T;ENSP00000304611:A642T;ENSP00000294728:A734T;ENSP00000359133:A535T	ENSP00000294728:A734T	A	+	1	0	VCAM1	100976407	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.673000	0.54591	2.793000	0.96121	0.591000	0.81541	GCA		0.373	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078	
KIF1B	23095	broad.mit.edu	37	1	10364223	10364223	+	Intron	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:10364223G>A	ENST00000377086.1	+	22	2317				KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.D994N|KIF1B_ENST00000377093.4_Missense_Mutation_p.D994N|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.D994N(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCAAAAGACGATGAAGCAAG	0.438																																					p.D994N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2980A	1						.						95.0	102.0	99.0					1																	10364223		2203	4300	6503	10286810	SO:0001627	intron_variant	23095	exon21			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6919G>A	1.37:g.10364223G>A			10286810	NM_183416	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	11.51	1.659699	0.29515	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.73363	-0.74;-0.74	5.48	4.58	0.56647	.	.	.	.	.	T	0.68007	0.2954	.	.	.	0.80722	D	1	B	0.20052	0.041	B	0.16722	0.016	T	0.65142	-0.6240	8	0.51188	T	0.08	.	14.549	0.68052	0.07:0.0:0.93:0.0	.	994	O60333-3	.	N	994	ENSP00000366297:D994N;ENSP00000366287:D994N	ENSP00000366287:D994N	D	+	1	0	KIF1B	10286810	0.991000	0.36638	0.921000	0.36526	0.787000	0.44495	2.115000	0.41921	1.329000	0.45376	-0.126000	0.14955	GAT		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
SLC30A7	148867	broad.mit.edu	37	1	101427387	101427387	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:101427387T>G	ENST00000370112.4	+	9	1033	c.846T>G	c.(844-846)gtT>gtG	p.V282V	SLC30A7_ENST00000357650.4_Silent_p.V282V	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	282					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)	p.V282V(1)		endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCCTTAGTGTTATTCCTCTTT	0.358																																					p.V282V	NSCLC(91;473 1491 3102 16827 21633)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T846G	1						.						159.0	164.0	162.0					1																	101427387		2203	4300	6503	101199975	SO:0001819	synonymous_variant	148867	exon9			AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.846T>G	1.37:g.101427387T>G			101199975	NM_133496	B2R949|D3DT61|Q8TCH2	Silent	SNP	ENST00000370112.4	37	CCDS776.1	.	.	.	.	.	.	.	.	.	.	T	9.920	1.211823	0.22289	.	.	ENSG00000162695	ENST00000370111	.	.	.	5.47	3.14	0.36123	.	.	.	.	.	T	0.44973	0.1319	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35895	-0.9770	4	.	.	.	-16.4408	9.6388	0.39826	0.0:0.1424:0.0:0.8576	.	.	.	.	D	2	.	.	Y	+	1	0	SLC30A7	101199975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.707000	0.25704	0.374000	0.24650	0.528000	0.53228	TAT		0.358	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1	NM_133496	
KIF1B	23095	broad.mit.edu	37	1	10423363	10423363	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:10423363G>A	ENST00000377086.1	+	41	4529	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K	KIF1B_ENST00000263934.6_Missense_Mutation_p.E1397K|KIF1B_ENST00000377081.1_Missense_Mutation_p.E1443K			O60333	KIF1B_HUMAN	kinesin family member 1B	1443					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1397K(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCATTTACGAACTCAGCTT	0.343																																					p.E1397K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4189A	1						.						193.0	182.0	186.0					1																	10423363		2203	4300	6503	10345950	SO:0001583	missense	23095	exon39			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4327G>A	1.37:g.10423363G>A	ENSP00000366290:p.Glu1443Lys		10345950	NM_015074	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	36	5.731719	0.96856	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.74002	-0.72;-0.8;-0.8	6.06	6.06	0.98353	.	0.051111	0.85682	D	0.000000	D	0.85588	0.5731	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;P	0.89917	0.996;0.975;1.0;0.99;1.0;0.938	P;B;D;P;D;B	0.83275	0.768;0.161;0.994;0.788;0.996;0.228	T	0.83281	-0.0038	10	0.44086	T	0.13	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1429;1403;1443;1417;1443;1397	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	K	1443;1397;1443;1443	ENSP00000263934:E1397K;ENSP00000366290:E1443K;ENSP00000366284:E1443K	ENSP00000263934:E1397K	E	+	1	0	KIF1B	10345950	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.396000	0.97270	2.882000	0.98803	0.655000	0.94253	GAA		0.343	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
COL11A1	1301	broad.mit.edu	37	1	103491414	103491414	+	Intron	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:103491414A>C	ENST00000370096.3	-	7	1210				COL11A1_ENST00000358392.2_Missense_Mutation_p.F292C|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.F292C(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTGGATGAAAATTTTTCAGA	0.348																																					p.F292C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T875G	1						.						139.0	145.0	143.0					1																	103491414		2202	4299	6501	103264002	SO:0001627	intron_variant	1301	exon6			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.898-245T>G	1.37:g.103491414A>C			103264002	NM_080629	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.243506	0.22796	.	.	ENSG00000060718	ENST00000358392;ENST00000427239	T;T	0.72051	-0.62;-0.62	5.35	2.77	0.32553	.	0.859321	0.09911	N	0.739744	T	0.48874	0.1524	L	0.43152	1.355	0.80722	D	1	P	0.37276	0.589	B	0.39379	0.298	T	0.51919	-0.8644	10	0.52906	T	0.07	.	7.1843	0.25791	0.735:0.0:0.0853:0.1796	.	292	P12107-2	.	C	292	ENSP00000351163:F292C;ENSP00000408640:F292C	ENSP00000351163:F292C	F	-	2	0	COL11A1	103264002	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.792000	0.26929	0.895000	0.36342	0.519000	0.50382	TTT		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	
NTNG1	22854	broad.mit.edu	37	1	107867155	107867155	+	Silent	SNP	C	C	T	rs267597900		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:107867155C>T	ENST00000370068.1	+	3	1344	c.498C>T	c.(496-498)ctC>ctT	p.L166L	NTNG1_ENST00000370072.3_Silent_p.L166L|NTNG1_ENST00000370070.2_Silent_p.L166L|NTNG1_ENST00000370073.2_Silent_p.L166L|NTNG1_ENST00000370067.1_Silent_p.L166L|NTNG1_ENST00000370065.1_Silent_p.L166L|NTNG1_ENST00000370074.4_Silent_p.L166L|NTNG1_ENST00000370066.1_Silent_p.L166L|NTNG1_ENST00000370071.2_Silent_p.L166L|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000542803.1_Silent_p.L166L|NTNG1_ENST00000370061.3_Silent_p.L166L			Q9Y2I2	NTNG1_HUMAN	netrin G1	166	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.L166L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGAAGTCTCTCGATTATGGAC	0.428																																					p.L166L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C498T	1						.						84.0	84.0	84.0					1																	107867155		2203	4299	6502	107668678	SO:0001819	synonymous_variant	22854	exon3			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.498C>T	1.37:g.107867155C>T			107668678	NM_001113228	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	CCDS44180.1																																																																																				0.428	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917	
VAV3	10451	broad.mit.edu	37	1	108185361	108185361	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:108185361C>T	ENST00000370056.4	-	20	2068	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Silent_p.Q38Q|VAV3_ENST00000544443.1_Silent_p.Q2Q|VAV3_ENST00000527011.1_Silent_p.Q598Q	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	598	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)	p.Q598Q(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCCTAATGACCTGCATCTTTG	0.413																																					p.Q598Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1794A	1						.						115.0	109.0	111.0					1																	108185361		2203	4300	6503	107986884	SO:0001819	synonymous_variant	10451	exon20			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1794G>A	1.37:g.108185361C>T			107986884	NM_006113	B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229711	0.39399	.	.	ENSG00000134215	ENST00000529809	.	.	.	5.67	4.75	0.60458	.	.	.	.	.	T	0.52403	0.1732	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61773	-0.6994	5	0.87932	D	0	.	5.75	0.18142	0.0:0.7368:0.0:0.2632	.	.	.	.	K	126	.	ENSP00000434944:R23K	R	-	2	0	VAV3	107986884	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.331000	0.43894	2.682000	0.91365	0.555000	0.69702	AGG		0.413	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	
HENMT1	113802	broad.mit.edu	37	1	109191496	109191496	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:109191496C>A	ENST00000370032.5	-	8	1294	c.874G>T	c.(874-876)Gaa>Taa	p.E292*	HENMT1_ENST00000402983.1_Nonsense_Mutation_p.E292*|HENMT1_ENST00000493676.1_5'Flank|HENMT1_ENST00000370031.1_Nonsense_Mutation_p.E323*	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	292					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.E292*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CCAGCCTGTTCTTTCCGCCTT	0.512																																					p.E292X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G874T	1						.						88.0	80.0	83.0					1																	109191496		2203	4300	6503	108993019	SO:0001587	stop_gained	113802	exon8				CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.874G>T	1.37:g.109191496C>A	ENSP00000359049:p.Glu292*		108993019	NM_144584	A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Nonsense_Mutation	SNP	ENST00000370032.5	37	CCDS787.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677905	0.47886	.	.	ENSG00000162639	ENST00000402983;ENST00000370031;ENST00000370032;ENST00000420055	.	.	.	4.98	-1.53	0.08611	.	3.464590	0.00508	N	0.000178	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-1.1374	1.0215	0.01519	0.2132:0.1895:0.373:0.2243	.	.	.	.	X	292;323;292;292	.	ENSP00000359048:E323X	E	-	1	0	HENMT1	108993019	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.059000	0.14322	-0.146000	0.11274	-0.137000	0.14449	GAA		0.512	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584	
WDR47	22911	broad.mit.edu	37	1	109529286	109529286	+	Missense_Mutation	SNP	T	T	G	rs199887849		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:109529286T>G	ENST00000369962.3	-	10	2006	c.1784A>C	c.(1783-1785)aAg>aCg	p.K595T	WDR47_ENST00000400794.3_Missense_Mutation_p.K603T|WDR47_ENST00000361054.3_Missense_Mutation_p.K567T|WDR47_ENST00000357672.3_Missense_Mutation_p.K567T|WDR47_ENST00000369965.4_Missense_Mutation_p.K596T			O94967	WDR47_HUMAN	WD repeat domain 47	595					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.K596T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AACAAACTGCTTTTTTGATTT	0.303													T|||	1	0.000199681	0.0	0.0	5008	,	,		16715	0.0		0.001	False		,,,				2504	0.0				p.K596T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1787C	1						.						61.0	58.0	59.0					1																	109529286		2203	4300	6503	109330809	SO:0001583	missense	22911	exon10			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1784A>C	1.37:g.109529286T>G	ENSP00000358979:p.Lys595Thr		109330809	NM_014969	A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	CCDS44187.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	8.373	0.835864	0.16820	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.56103	0.48;0.52;0.48;0.48;0.48	4.74	4.74	0.60224	.	0.358848	0.31660	N	0.007271	T	0.18045	0.0433	N	0.19112	0.55	0.31618	N	0.65063	B;B;B;B	0.13145	0.007;0.003;0.003;0.007	B;B;B;B	0.11329	0.006;0.001;0.001;0.006	T	0.06716	-1.0811	10	0.12766	T	0.61	-13.6635	14.2622	0.66092	0.0:0.0:0.0:1.0	.	567;603;595;596	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	T	603;595;567;596;567	ENSP00000383599:K603T;ENSP00000358979:K595T;ENSP00000354339:K567T;ENSP00000358982:K596T;ENSP00000350301:K567T	ENSP00000350301:K567T	K	-	2	0	WDR47	109330809	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	2.207000	0.42788	1.762000	0.52044	0.460000	0.39030	AAG		0.303	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969	
SORT1	6272	broad.mit.edu	37	1	109859531	109859531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:109859531G>A	ENST00000256637.6	-	17	2249	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*	SORT1_ENST00000538502.1_Nonsense_Mutation_p.R594*	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	731	Interactions with LRPAP1 and NGFB.				endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.R731*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTTACTTCTCGAACTGGATTT	0.403																																					p.R731X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2191T	1						.						144.0	140.0	142.0					1																	109859531		2203	4300	6503	109661054	SO:0001587	stop_gained	6272	exon17			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.2191C>T	1.37:g.109859531G>A	ENSP00000256637:p.Arg731*		109661054	NM_002959	B4DWI3|C0JYZ0|Q8IZ49	Nonsense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	G	42	9.544277	0.99201	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	.	.	.	5.65	3.76	0.43208	.	0.071815	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7084	15.2283	0.73367	0.0:0.0:0.7459:0.2541	.	.	.	.	X	731;594	.	ENSP00000256637:R731X	R	-	1	2	SORT1	109661054	0.178000	0.23122	0.978000	0.43139	0.837000	0.47467	0.487000	0.22356	0.320000	0.23234	-0.808000	0.03180	CGA		0.403	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	NM_002959	
GNAT2	2780	broad.mit.edu	37	1	110146043	110146043	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:110146043T>G	ENST00000351050.3	-	8	1184	c.998A>C	c.(997-999)aAa>aCa	p.K333T		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	333					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.K333T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		AAACACAAATTTGACATTCTG	0.383																																					p.K333T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A998C	1						.						110.0	102.0	105.0					1																	110146043		2203	4300	6503	109947566	SO:0001583	missense	2780	exon8			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.998A>C	1.37:g.110146043T>G	ENSP00000251337:p.Lys333Thr		109947566	NM_005272		Missense_Mutation	SNP	ENST00000351050.3	37	CCDS803.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903262	0.92035	.	.	ENSG00000134183	ENST00000351050	D	0.89343	-2.5	5.48	5.48	0.80851	.	0.047272	0.85682	D	0.000000	D	0.92368	0.7578	M	0.89163	3.01	0.52501	D	0.999953	P	0.34462	0.454	P	0.47402	0.546	D	0.93503	0.6846	10	0.87932	D	0	.	15.5478	0.76123	0.0:0.0:0.0:1.0	.	333	P19087	GNAT2_HUMAN	T	333	ENSP00000251337:K333T	ENSP00000251337:K333T	K	-	2	0	GNAT2	109947566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.907000	0.87430	2.205000	0.71048	0.533000	0.62120	AAA		0.383	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272	
AHCYL1	10768	broad.mit.edu	37	1	110558117	110558117	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:110558117G>A	ENST00000369799.5	+	7	1113	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	AHCYL1_ENST00000393614.4_Missense_Mutation_p.R202Q|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R202Q	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	249					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.R249Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAGAAGATCCGAGGCATTGTG	0.483																																					p.R249Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G746A	1						.						142.0	137.0	139.0					1																	110558117		2203	4300	6503	110359640	SO:0001583	missense	10768	exon7			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.746G>A	1.37:g.110558117G>A	ENSP00000358814:p.Arg249Gln		110359640	NM_006621	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369436	0.61624	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.77229	-1.08;-1.08;-1.08	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	L	0.53780	1.695	0.58432	D	0.999994	B	0.17852	0.024	B	0.10450	0.005	T	0.64659	-0.6355	10	0.56958	D	0.05	-1.5292	20.5666	0.99351	0.0:0.0:1.0:0.0	.	249	O43865	SAHH2_HUMAN	Q	249;202;202	ENSP00000358814:R249Q;ENSP00000352092:R202Q;ENSP00000377238:R202Q	ENSP00000352092:R202Q	R	+	2	0	AHCYL1	110359640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.408000	0.73285	2.854000	0.98071	0.655000	0.94253	CGA		0.483	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1		
KCNA3	3738	broad.mit.edu	37	1	111215722	111215722	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:111215722C>A	ENST00000369769.2	-	1	1933	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	570					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.K570N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CGGTGAATATCTTTTTGATGT	0.453																																					p.K570N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1710T	1						.						175.0	162.0	167.0					1																	111215722		2203	4300	6503	111017245	SO:0001583	missense	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1710G>T	1.37:g.111215722C>A	ENSP00000358784:p.Lys570Asn		111017245	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746904	0.30955	.	.	ENSG00000177272	ENST00000369769	D	0.97256	-4.31	5.38	3.51	0.40186	.	0.348271	0.19989	U	0.101616	D	0.97303	0.9118	M	0.74881	2.28	0.58432	D	0.999999	D	0.76494	0.999	D	0.66351	0.943	D	0.96772	0.9569	10	0.56958	D	0.05	.	12.0225	0.53352	0.0:0.8597:0.0:0.1403	.	570	P22001	KCNA3_HUMAN	N	570	ENSP00000358784:K570N	ENSP00000358784:K570N	K	-	3	2	KCNA3	111017245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.112000	0.41892	0.826000	0.34661	0.655000	0.94253	AAG		0.453	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
KCNA3	3738	broad.mit.edu	37	1	111216021	111216021	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:111216021T>C	ENST00000369769.2	-	1	1634	c.1411A>G	c.(1411-1413)Acc>Gcc	p.T471A		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	471				T -> S (in Ref. 5; AAA36425). {ECO:0000305}.	potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.T471A(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	AATGCGATGGTCAAGACACCG	0.532																																					p.T471A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1411G	1						.						100.0	82.0	88.0					1																	111216021		2203	4300	6503	111017544	SO:0001583	missense	3738	exon1			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1411A>G	1.37:g.111216021T>C	ENSP00000358784:p.Thr471Ala		111017544	NM_002232	Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	CCDS828.2	.	.	.	.	.	.	.	.	.	.	T	18.49	3.636295	0.67130	.	.	ENSG00000177272	ENST00000369769	D	0.98455	-4.94	5.91	5.91	0.95273	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98501	0.9500	M	0.63208	1.945	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99880	1.1112	10	0.62326	D	0.03	.	16.3378	0.83071	0.0:0.0:0.0:1.0	.	471	P22001	KCNA3_HUMAN	A	471	ENSP00000358784:T471A	ENSP00000358784:T471A	T	-	1	0	KCNA3	111017544	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.036000	0.88901	2.255000	0.74692	0.533000	0.62120	ACC		0.532	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232	
CHI3L2	1117	broad.mit.edu	37	1	111773879	111773879	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:111773879C>A	ENST00000445067.2	+	6	1063	c.292C>A	c.(292-294)Ctc>Atc	p.L98I	CHI3L2_ENST00000466741.1_Missense_Mutation_p.L19I|CHI3L2_ENST00000369744.2_Missense_Mutation_p.L88I|CHI3L2_ENST00000524472.1_Missense_Mutation_p.L19I|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L98I			Q15782	CH3L2_HUMAN	chitinase 3-like 2	98					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.L98I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		ACTGAAAATTCTCTTGTCCAT	0.353																																					p.L19I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C55A	1						.						87.0	85.0	86.0					1																	111773879		2203	4300	6503	111575402	SO:0001583	missense	1117	exon3			U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.292C>A	1.37:g.111773879C>A	ENSP00000437082:p.Leu98Ile		111575402	NM_001025199	A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	CCDS30802.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.19|17.19	3.325266|3.325266	0.60743|0.60743	.|.	.|.	ENSG00000064886|ENSG00000064886	ENST00000533831|ENST00000445067;ENST00000528451;ENST00000486561;ENST00000369744;ENST00000369748;ENST00000474304;ENST00000466741;ENST00000477185;ENST00000497587;ENST00000524472	.|T;T;T;T;T;T;T;T;T	.|0.10005	.|2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92	3.65|3.65	2.72|2.72	0.32119|0.32119	.|Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.000000	.|0.37669	.|N	.|0.001992	T|T	0.16938|0.16938	0.0407|0.0407	M|M	0.77712|0.77712	2.385|2.385	0.34905|0.34905	D|D	0.746929|0.746929	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.78314	.|0.988;0.991;0.991	T|T	0.02238|0.02238	-1.1190|-1.1190	5|10	.|0.87932	.|D	.|0	-12.8281|-12.8281	5.8|5.8	0.18408|0.18408	0.0:0.7557:0.0:0.2443|0.0:0.7557:0.0:0.2443	.|.	.|19;88;98	.|B4DPR7;A6NNY3;Q15782	.|.;.;CH3L2_HUMAN	L|I	66|98;98;98;88;98;98;19;19;19;19	.|ENSP00000437082:L98I;ENSP00000436077:L98I;ENSP00000431968:L98I;ENSP00000358759:L88I;ENSP00000358763:L98I;ENSP00000437086:L19I;ENSP00000436272:L19I;ENSP00000436006:L19I;ENSP00000432049:L19I	.|ENSP00000358759:L88I	F|L	+|+	3|1	2|0	CHI3L2|CHI3L2	111575402|111575402	0.994000|0.994000	0.37717|0.37717	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	2.657000|2.657000	0.46724|0.46724	0.828000|0.828000	0.34709|0.34709	0.655000|0.655000	0.94253|0.94253	TTC|CTC		0.353	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000	
OVGP1	5016	broad.mit.edu	37	1	111969247	111969247	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:111969247G>A	ENST00000369732.3	-	3	127	c.72C>T	c.(70-72)ctC>ctT	p.L24L	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	24					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.L66L(1)|p.L24L(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AATAACACACGAGTTTATGGG	0.547																																					p.L24L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C72T	1						.						62.0	58.0	59.0					1																	111969247		2203	4300	6503	111770770	SO:0001819	synonymous_variant	5016	exon3			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.72C>T	1.37:g.111969247G>A			111770770	NM_002557	A0AV19|B9EGE1|Q15841	Silent	SNP	ENST00000369732.3	37	CCDS834.1																																																																																				0.547	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557	
DDX20	11218	broad.mit.edu	37	1	112305328	112305328	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:112305328G>T	ENST00000369702.4	+	9	1754	c.1134G>T	c.(1132-1134)gtG>gtT	p.V378V	DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	378	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.V378V(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAGAAGGTGAATCTGGTTG	0.363																																					p.V378V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1134T	1						.						156.0	160.0	159.0					1																	112305328		2203	4300	6503	112106851	SO:0001819	synonymous_variant	11218	exon9			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1134G>T	1.37:g.112305328G>T			112106851	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	CCDS842.1																																																																																				0.363	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204	
DDX20	11218	broad.mit.edu	37	1	112308466	112308466	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:112308466A>C	ENST00000369702.4	+	11	2040	c.1420A>C	c.(1420-1422)Aag>Cag	p.K474Q	DDX20_ENST00000475700.1_Missense_Mutation_p.K82Q	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	474	SMN interacting.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)	p.K474Q(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCTTAAAAAAGCAAATTCA	0.398																																					p.K474Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1420C	1						.						117.0	122.0	120.0					1																	112308466		2203	4300	6503	112109989	SO:0001583	missense	11218	exon11			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1420A>C	1.37:g.112308466A>C	ENSP00000358716:p.Lys474Gln		112109989	NM_007204	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	A	8.982	0.975468	0.18736	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.36157	1.27;1.78	5.27	2.91	0.33838	.	0.268407	0.28914	N	0.013730	T	0.12050	0.0293	L	0.53249	1.67	0.19775	N	0.999958	B;B	0.33448	0.094;0.412	B;B	0.28553	0.067;0.091	T	0.13124	-1.0521	9	.	.	.	-54.407	7.0889	0.25273	0.7763:0.1472:0.0765:0.0	.	82;474	E9PJ60;Q9UHI6	.;DDX20_HUMAN	Q	474;82	ENSP00000358716:K474Q;ENSP00000435660:K82Q	.	K	+	1	0	DDX20	112109989	0.002000	0.14202	0.308000	0.25141	0.022000	0.10575	0.959000	0.29240	0.391000	0.25143	-0.274000	0.10170	AAG		0.398	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2	NM_007204	
KCND3	3752	broad.mit.edu	37	1	112524913	112524913	+	Missense_Mutation	SNP	G	G	A	rs575658111		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:112524913G>A	ENST00000315987.2	-	2	915	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	KCND3_ENST00000302127.4_Missense_Mutation_p.R146W|KCND3_ENST00000369697.1_Missense_Mutation_p.R146W	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	146					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCCATGAGCCGCTCGGCGTTC	0.627																																					p.R146W												.	.	0			c.C436T	1						.						61.0	57.0	58.0					1																	112524913		2203	4300	6503	112326436	SO:0001583	missense	3752	exon2			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.436C>T	1.37:g.112524913G>A	ENSP00000319591:p.Arg146Trp		112326436	NM_004980	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481353	0.63849	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97256	-4.3;-4.31;-4.3	5.61	4.67	0.58626	BTB/POZ fold (1);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	M	0.88105	2.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.917	D	0.98657	1.0682	10	0.87932	D	0	.	13.3572	0.60635	0.0:0.0:0.7178:0.2822	.	146;146	Q14D71;Q9UK17	.;KCND3_HUMAN	W	146	ENSP00000358711:R146W;ENSP00000319591:R146W;ENSP00000306923:R146W	ENSP00000306923:R146W	R	-	1	2	KCND3	112326436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.956000	0.56722	2.648000	0.89879	0.563000	0.77884	CGG		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
CTTNBP2NL	55917	broad.mit.edu	37	1	112998999	112998999	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:112998999C>T	ENST00000271277.6	+	6	1110	c.885C>T	c.(883-885)acC>acT	p.T295T		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	295					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)	p.T295T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCAGTAACCGTGTCCAAAG	0.458																																					p.T295T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C885T	1						.						112.0	119.0	117.0					1																	112998999		2203	4300	6503	112800522	SO:0001819	synonymous_variant	55917	exon6			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.885C>T	1.37:g.112998999C>T			112800522	NM_018704	B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	CCDS845.1																																																																																				0.458	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704	
MAGI3	260425	broad.mit.edu	37	1	114165435	114165435	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:114165435A>C	ENST00000307546.9	+	9	1254	c.1179A>C	c.(1177-1179)gaA>gaC	p.E393D	MAGI3_ENST00000369615.1_Missense_Mutation_p.E393D|MAGI3_ENST00000369611.4_Missense_Mutation_p.E393D|MAGI3_ENST00000369617.4_Missense_Mutation_p.E418D	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	418					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.E393D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGATATGGAAAAATCACACT	0.338																																					p.E393D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1179C	1						.						87.0	82.0	83.0					1																	114165435		2203	4300	6503	113966958	SO:0001583	missense	260425	exon9			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1179A>C	1.37:g.114165435A>C	ENSP00000304604:p.Glu393Asp		113966958	NM_152900	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234039	0.39498	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.92	3.61	0.41365	.	0.088928	0.85682	D	0.000000	T	0.22820	0.0551	M	0.62016	1.91	0.38753	D	0.954147	P;B;B	0.51791	0.948;0.288;0.23	B;B;B	0.44133	0.442;0.093;0.173	T	0.05241	-1.0897	10	0.21014	T	0.42	-20.4758	7.7145	0.28696	0.7523:0.0:0.2477:0.0	.	393;393;418	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	D	418;393;393;393	ENSP00000358630:E418D;ENSP00000304604:E393D;ENSP00000358628:E393D;ENSP00000358624:E393D	ENSP00000304604:E393D	E	+	3	2	MAGI3	113966958	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	0.707000	0.25704	1.075000	0.40932	0.533000	0.62120	GAA		0.338	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
PHTF1	10745	broad.mit.edu	37	1	114246728	114246728	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:114246728G>A	ENST00000369604.1	-	15	2348	c.1865C>T	c.(1864-1866)tCg>tTg	p.S622L	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000357783.2_Missense_Mutation_p.S622L|PHTF1_ENST00000369596.2_Missense_Mutation_p.S569L|PHTF1_ENST00000369598.1_Missense_Mutation_p.S577L|PHTF1_ENST00000369600.1_Missense_Mutation_p.S569L|PHTF1_ENST00000393357.2_Missense_Mutation_p.S622L			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	622					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S622L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAGCAATCGAAAGTGTCAG	0.388																																					p.S622L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1865T	1						.						120.0	100.0	106.0					1																	114246728		2203	4300	6503	114048251	SO:0001583	missense	10745	exon14			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1865C>T	1.37:g.114246728G>A	ENSP00000358617:p.Ser622Leu		114048251	NM_006608	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	CCDS861.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768761	0.69878	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.76	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	N	0.20766	0.605	0.80722	D	1	P;D	0.89917	0.928;1.0	B;D	0.87578	0.178;0.998	T	0.47129	-0.9141	9	0.13108	T	0.6	-11.659	14.9	0.70672	0.0689:0.0:0.9311:0.0	.	622;622	Q9UMS5;Q9UMS5-2	PHTF1_HUMAN;.	L	577;622;569;577;569;622;622	.	ENSP00000350428:S622L	S	-	2	0	PHTF1	114048251	1.000000	0.71417	0.834000	0.33040	0.007000	0.05969	9.552000	0.98115	1.441000	0.47550	0.591000	0.81541	TCG		0.388	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608	
AMPD1	270	broad.mit.edu	37	1	115218606	115218606	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:115218606C>A	ENST00000520113.2	-	11	1521	c.1506G>T	c.(1504-1506)aaG>aaT	p.K502N	AMPD1_ENST00000353928.6_Missense_Mutation_p.K469N|AMPD1_ENST00000369538.3_Missense_Mutation_p.K498N			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	502					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.K469N(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GAAGGAAATTCTTGGAACGGA	0.438																																					p.K502N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1506T	1						.						97.0	103.0	101.0					1																	115218606		2203	4300	6503	115020129	SO:0001583	missense	270	exon11			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1506G>T	1.37:g.115218606C>A	ENSP00000430075:p.Lys502Asn		115020129	NM_000036	A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651461	0.67472	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.95853	-3.83;-3.83;-3.83	5.58	5.58	0.84498	Adenosine/AMP deaminase (1);	0.084621	0.85682	D	0.000000	D	0.93615	0.7961	N	0.25031	0.7	0.80722	D	1	P;D	0.60575	0.916;0.988	P;P	0.62298	0.697;0.9	D	0.91430	0.5165	10	0.15499	T	0.54	-22.8731	19.5788	0.95458	0.0:1.0:0.0:0.0	.	498;469	Q5TF02;P23109	.;AMPD1_HUMAN	N	502;498;469	ENSP00000430075:K502N;ENSP00000358551:K498N;ENSP00000316520:K469N	ENSP00000316520:K469N	K	-	3	2	AMPD1	115020129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.362000	0.52314	2.626000	0.88956	0.561000	0.74099	AAG		0.438	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		
NRAS	4893	broad.mit.edu	37	1	115252246	115252246	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:115252246C>T	ENST00000369535.4	-	4	647	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	132					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.E132K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGCCAGTTCGTGGGCTTGT	0.448		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																											p.E132K			Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G394A	1						.						230.0	177.0	195.0					1																	115252246		2203	4300	6503	115053769	SO:0001583	missense	4893	exon4	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.394G>A	1.37:g.115252246C>T	ENSP00000358548:p.Glu132Lys		115053769	NM_002524	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353421	0.82243	.	.	ENSG00000213281	ENST00000369535	T	0.76839	-1.05	5.44	4.53	0.55603	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000027	T	0.55226	0.1907	L	0.31752	0.955	0.80722	D	1	B	0.27286	0.174	B	0.26094	0.066	T	0.59295	-0.7481	10	0.46703	T	0.11	.	14.6626	0.68882	0.0:0.9295:0.0:0.0705	.	132	P01111	RASN_HUMAN	K	132	ENSP00000358548:E132K	ENSP00000358548:E132K	E	-	1	0	NRAS	115053769	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.750000	0.85110	1.418000	0.47098	0.650000	0.86243	GAA		0.448	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
CSDE1	7812	broad.mit.edu	37	1	115275304	115275304	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:115275304C>T	ENST00000358528.4	-	10	1397	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	CSDE1_ENST00000339438.6_Missense_Mutation_p.R293Q|CSDE1_ENST00000534699.1_Missense_Mutation_p.R324Q|CSDE1_ENST00000530886.1_Missense_Mutation_p.R194Q|CSDE1_ENST00000369530.1_Missense_Mutation_p.R339Q|CSDE1_ENST00000261443.5_Missense_Mutation_p.R293Q|CSDE1_ENST00000438362.2_Missense_Mutation_p.R370Q	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	324	CSD 4; truncated.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R324Q(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGTCACGTCGGTCTGTTGA	0.403																																					p.R339Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1016A	1						.						191.0	187.0	188.0					1																	115275304		2203	4300	6503	115076827	SO:0001583	missense	7812	exon10				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.971G>A	1.37:g.115275304C>T	ENSP00000351329:p.Arg324Gln		115076827	NM_001130523	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791732	0.90453	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	.	0.058358	0.64402	D	0.000001	T	0.72755	0.3500	L	0.54323	1.7	0.80722	D	1	P;D;D	0.71674	0.614;0.997;0.998	B;D;D	0.72982	0.078;0.953;0.979	T	0.71899	-0.4453	9	0.56958	D	0.05	-0.5572	20.2374	0.98362	0.0:1.0:0.0:0.0	.	339;324;370	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Q	293;370;324;293;194;339;324	.	ENSP00000261443:R293Q	R	-	2	0	CSDE1	115076827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.787000	0.95880	0.591000	0.81541	CGA		0.403	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158	
SYCP1	6847	broad.mit.edu	37	1	115403428	115403428	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:115403428A>C	ENST00000369522.3	+	8	836	c.596A>C	c.(595-597)aAa>aCa	p.K199T	SYCP1_ENST00000369518.1_Missense_Mutation_p.K199T	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	199					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.K199T(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGACAAAGAAATGTAAATAT	0.323																																					p.K199T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A596C	1						.						36.0	37.0	36.0					1																	115403428		2202	4294	6496	115204951	SO:0001583	missense	6847	exon8			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.596A>C	1.37:g.115403428A>C	ENSP00000358535:p.Lys199Thr		115204951	NM_003176	O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	17.53	3.412867	0.62511	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.56611	0.45;0.45;0.45	4.9	4.9	0.64082	.	0.249823	0.41938	D	0.000790	T	0.53254	0.1785	M	0.67953	2.075	0.31501	N	0.664811	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.51474	-0.8701	10	0.18276	T	0.48	-11.6619	9.8375	0.40977	0.8468:0.0:0.0:0.1532	.	199;199	B7ZLS9;Q15431	.;SYCP1_HUMAN	T	199	ENSP00000358535:K199T;ENSP00000410011:K199T;ENSP00000358531:K199T	ENSP00000358531:K199T	K	+	2	0	SYCP1	115204951	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.095000	0.57728	1.971000	0.57363	0.459000	0.35465	AAA		0.323	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
SYCP1	6847	broad.mit.edu	37	1	115454108	115454108	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:115454108A>G	ENST00000369522.3	+	18	1674	c.1434A>G	c.(1432-1434)gtA>gtG	p.V478V	SYCP1_ENST00000369518.1_Silent_p.V478V	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	478					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.V478V(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAGAAGTACATGATTTGG	0.299																																					p.V478V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1434G	1						.						78.0	78.0	78.0					1																	115454108		2202	4281	6483	115255631	SO:0001819	synonymous_variant	6847	exon18			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1434A>G	1.37:g.115454108A>G			115255631	NM_003176	O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	CCDS879.1																																																																																				0.299	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	
NGF	4803	broad.mit.edu	37	1	115829289	115829289	+	Missense_Mutation	SNP	G	G	A	rs566033399		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:115829289G>A	ENST00000369512.2	-	3	296	c.128C>T	c.(127-129)tCc>tTc	p.S43F	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	43					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)	p.S43F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	AGTGTCAAGGGAATGCTGAAG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17945	0.0		0.0	False		,,,				2504	0.001				p.S43F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128T	1						.						105.0	85.0	92.0					1																	115829289		2203	4300	6503	115630812	SO:0001583	missense	4803	exon3				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.128C>T	1.37:g.115829289G>A	ENSP00000358525:p.Ser43Phe		115630812	NM_002506	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385277	0.25031	.	.	ENSG00000134259	ENST00000369512	T	0.62639	0.01	5.36	4.36	0.52297	.	0.619392	0.15867	N	0.240719	T	0.39172	0.1068	L	0.59436	1.845	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.15093	-1.0449	10	0.37606	T	0.19	-28.0387	9.6925	0.40136	0.084:0.0:0.7628:0.1532	.	43	P01138	NGF_HUMAN	F	43	ENSP00000358525:S43F	ENSP00000358525:S43F	S	-	2	0	NGF	115630812	0.736000	0.28164	0.998000	0.56505	0.442000	0.32017	0.424000	0.21330	2.507000	0.84556	0.467000	0.42956	TCC		0.617	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506	
IGSF3	3321	broad.mit.edu	37	1	117150767	117150767	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:117150767A>C	ENST00000369486.3	-	5	1784	c.1019T>G	c.(1018-1020)tTt>tGt	p.F340C	IGSF3_ENST00000318837.6_Missense_Mutation_p.F340C|IGSF3_ENST00000369483.1_Missense_Mutation_p.F340C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	340	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.F340C(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCGGTGAGCAAATTCGCTGTT	0.557																																					p.F340C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1019G	1						.						48.0	45.0	46.0					1																	117150767		2202	4300	6502	116952290	SO:0001583	missense	3321	exon5			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1019T>G	1.37:g.117150767A>C	ENSP00000358498:p.Phe340Cys		116952290	NM_001542	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.074848	0.55646	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.65732	-0.17;-0.17;-0.17	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.065698	0.64402	D	0.000005	T	0.49762	0.1576	N	0.14661	0.345	0.42617	D	0.993337	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.79108	0.965;0.992;0.979	T	0.58031	-0.7708	10	0.46703	T	0.11	-23.8107	7.8318	0.29347	0.815:0.0:0.0:0.185	.	340;340;340	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	C	340	ENSP00000358498:F340C;ENSP00000358495:F340C;ENSP00000321184:F340C	ENSP00000321184:F340C	F	-	2	0	IGSF3	116952290	1.000000	0.71417	0.138000	0.22173	0.966000	0.64601	6.011000	0.70760	2.078000	0.62432	0.455000	0.32223	TTT		0.557	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
CD2	914	broad.mit.edu	37	1	117297332	117297332	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:117297332T>G	ENST00000369478.3	+	2	249	c.141T>G	c.(139-141)agT>agG	p.S47R	CD2_ENST00000369477.1_Missense_Mutation_p.S47R	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	47	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.S47R(1)		NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACATTCCTAGTTTTCAAATGA	0.373																																					p.S47R	NSCLC(14;263 555 26380 43512 51332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T141G	1						.						86.0	86.0	86.0					1																	117297332		2202	4300	6502	117098855	SO:0001583	missense	914	exon2			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.141T>G	1.37:g.117297332T>G	ENSP00000358490:p.Ser47Arg		117098855	NM_001767	Q96TE5	Missense_Mutation	SNP	ENST00000369478.3	37	CCDS889.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.388022	0.25118	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	T;T	0.65732	-0.17;-0.17	4.27	1.13	0.20643	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.560120	0.03519	N	0.220655	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	P;B;B	0.34587	0.458;0.283;0.009	B;B;B	0.28139	0.086;0.086;0.002	T	0.16453	-1.0402	10	0.56958	D	0.05	-0.0719	5.5562	0.17117	0.0:0.3405:0.0:0.6595	.	47;47;47	B4E0G3;B4DVN2;P06729	.;.;CD2_HUMAN	R	47	ENSP00000358490:S47R;ENSP00000358489:S47R	ENSP00000358489:S47R	S	+	3	2	CD2	117098855	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.365000	0.07573	0.100000	0.17581	0.460000	0.39030	AGT		0.373	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	NM_001767	
PTGFRN	5738	broad.mit.edu	37	1	117484374	117484374	+	Silent	SNP	G	G	A	rs375720205		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:117484374G>A	ENST00000393203.2	+	2	234	c.87G>A	c.(85-87)gcG>gcA	p.A29A		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	29	Ig-like C2-type 1.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.A29A(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCCCCACAGCGACCCTGGTTC	0.522																																					p.A29A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G87A	1						.	G		0,4406		0,0,2203	74.0	73.0	73.0		87	-1.8	0.7	1		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PTGFRN	NM_020440.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		29/880	117484374	1,13005	2203	4300	6503	117285897	SO:0001819	synonymous_variant	5738	exon2			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.87G>A	1.37:g.117484374G>A			117285897	NM_020440	Q5VVU9|Q8N2K6	Silent	SNP	ENST00000393203.2	37	CCDS890.1																																																																																				0.522	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440	
PTGFRN	5738	broad.mit.edu	37	1	117504146	117504146	+	Missense_Mutation	SNP	A	A	C	rs145469544		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:117504146A>C	ENST00000393203.2	+	5	1642	c.1495A>C	c.(1495-1497)Aat>Cat	p.N499H	RNA5SP55_ENST00000516701.1_RNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	499	Ig-like C2-type 4.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.N499H(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AGACACGTTCAATTTCCGGAT	0.478																																					p.N499H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1495C	1						.						93.0	89.0	90.0					1																	117504146		2203	4300	6503	117305669	SO:0001583	missense	5738	exon5			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1495A>C	1.37:g.117504146A>C	ENSP00000376899:p.Asn499His		117305669	NM_020440	Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	CCDS890.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.540767	0.27563	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.27402	1.67	5.35	2.81	0.32909	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.780907	0.12743	N	0.442838	T	0.07324	0.0185	N	0.25647	0.755	0.22446	N	0.99909	B	0.06786	0.001	B	0.09377	0.004	T	0.29579	-1.0007	10	0.41790	T	0.15	-2.3361	5.3051	0.15799	0.5528:0.3561:0.091:0.0	.	499	Q9P2B2	FPRP_HUMAN	H	499;358	ENSP00000376899:N499H	ENSP00000376899:N499H	N	+	1	0	PTGFRN	117305669	0.987000	0.35691	0.917000	0.36280	0.890000	0.51754	2.247000	0.43151	0.841000	0.35020	0.254000	0.18369	AAT		0.478	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440	
GDAP2	54834	broad.mit.edu	37	1	118462854	118462854	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:118462854G>A	ENST00000369443.5	-	2	376	c.127C>T	c.(127-129)Cga>Tga	p.R43*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.R43*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	43	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AAAGGTGATCGAACAGTGTCT	0.358																																					p.R43X												.	.	0			c.C127T	1						.						99.0	99.0	99.0					1																	118462854		2203	4300	6503	118264377	SO:0001587	stop_gained	54834	exon2			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.127C>T	1.37:g.118462854G>A	ENSP00000358451:p.Arg43*		118264377	NM_017686	Q96DZ0	Nonsense_Mutation	SNP	ENST00000369443.5	37	CCDS897.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500671	0.85176	.	.	ENSG00000196505	ENST00000369443;ENST00000369442	.	.	.	5.22	-0.0107	0.13995	.	0.392143	0.28067	N	0.016740	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-7.2569	11.4034	0.49883	0.0:0.0671:0.5995:0.3334	.	.	.	.	X	43	.	ENSP00000358450:R43X	R	-	1	2	GDAP2	118264377	0.980000	0.34600	0.089000	0.20774	0.378000	0.30076	0.652000	0.24888	-0.085000	0.12573	-0.271000	0.10264	CGA		0.358	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686	
WDR3	10885	broad.mit.edu	37	1	118477295	118477295	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:118477295C>T	ENST00000349139.5	+	3	418	c.371C>T	c.(370-372)tCt>tTt	p.S124F	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	124						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S124F(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGACTGGCATCTGGGTCCAAG	0.443																																					p.S124F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C371T	1						.						83.0	75.0	78.0					1																	118477295		2203	4300	6503	118278818	SO:0001583	missense	10885	exon3			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.371C>T	1.37:g.118477295C>T	ENSP00000308179:p.Ser124Phe		118278818	NM_006784		Missense_Mutation	SNP	ENST00000349139.5	37	CCDS898.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822499	0.90873	.	.	ENSG00000065183	ENST00000349139	T	0.72725	-0.68	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.048237	0.85682	D	0.000000	D	0.90473	0.7016	H	0.98629	4.285	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.93216	0.6604	10	0.87932	D	0	-15.7922	20.3242	0.98691	0.0:1.0:0.0:0.0	.	124	Q9UNX4	WDR3_HUMAN	F	124	ENSP00000308179:S124F	ENSP00000308179:S124F	S	+	2	0	WDR3	118278818	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.235000	0.78143	2.882000	0.98803	0.655000	0.94253	TCT		0.443	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	
WDR3	10885	broad.mit.edu	37	1	118483783	118483783	+	Missense_Mutation	SNP	C	C	T	rs150881258		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:118483783C>T	ENST00000349139.5	+	8	873	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	276						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R276W(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCCATAATGCGGGAAGGAAG	0.423																																					p.R276W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C826T	1						.	C	TRP/ARG	0,4406		0,0,2203	110.0	104.0	106.0		826	4.8	1.0	1	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	WDR3	NM_006784.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	276/944	118483783	2,13004	2203	4300	6503	118285306	SO:0001583	missense	10885	exon8			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.826C>T	1.37:g.118483783C>T	ENSP00000308179:p.Arg276Trp		118285306	NM_006784		Missense_Mutation	SNP	ENST00000349139.5	37	CCDS898.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192338	0.78902	0.0	2.33E-4	ENSG00000065183	ENST00000349139	D	0.81996	-1.56	5.7	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89248	0.6661	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91118	0.4927	10	0.87932	D	0	-14.1891	13.5282	0.61607	0.2836:0.7164:0.0:0.0	.	276	Q9UNX4	WDR3_HUMAN	W	276	ENSP00000308179:R276W	ENSP00000308179:R276W	R	+	1	2	WDR3	118285306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.638000	0.37165	1.332000	0.45431	0.655000	0.94253	CGG		0.423	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	
SPAG17	200162	broad.mit.edu	37	1	118598376	118598376	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:118598376A>C	ENST00000336338.5	-	19	2767	c.2702T>G	c.(2701-2703)tTt>tGt	p.F901C		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	901						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.F901C(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTAATGGAAAAAATTTTGCT	0.318																																					p.F901C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2702G	1						.						77.0	78.0	78.0					1																	118598376		2202	4298	6500	118399899	SO:0001583	missense	200162	exon19				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2702T>G	1.37:g.118598376A>C	ENSP00000337804:p.Phe901Cys		118399899	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001068	0.35320	.	.	ENSG00000155761	ENST00000336338	T	0.29397	1.57	5.39	-10.8	0.00216	.	1.596700	0.03049	N	0.154306	T	0.06142	0.0159	N	0.22421	0.69	0.09310	N	1	P	0.42871	0.792	B	0.43445	0.42	T	0.36648	-0.9739	10	0.38643	T	0.18	.	2.3799	0.04351	0.3331:0.1651:0.3774:0.1244	.	901	Q6Q759	SPG17_HUMAN	C	901	ENSP00000337804:F901C	ENSP00000337804:F901C	F	-	2	0	SPAG17	118399899	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.837000	0.04377	-1.655000	0.01497	0.477000	0.44152	TTT		0.318	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
NPPB	4879	broad.mit.edu	37	1	11918771	11918771	+	Silent	SNP	C	C	T	rs140816420	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:11918771C>T	ENST00000376468.3	-	1	217	c.120G>A	c.(118-120)acG>acA	p.T40T		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	40					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.T40T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	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;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	GTAACCCGGACGTTTCCAAGT	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16243	0.0		0.0	False		,,,				2504	0.0				p.T40T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G120A	1						.	C		8,4398	15.5+/-35.6	0,8,2195	66.0	77.0	73.0		120	0.2	0.0	1	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NPPB	NM_002521.2		0,9,6494	TT,TC,CC		0.0116,0.1816,0.0692		40/135	11918771	9,12997	2203	4300	6503	11841358	SO:0001819	synonymous_variant	4879	exon1			BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.120G>A	1.37:g.11918771C>T			11841358	NM_002521	B0ZBE9|Q6FGY0|Q9P2Q7	Silent	SNP	ENST00000376468.3	37	CCDS140.1																																																																																				0.617	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521	
SPAG17	200162	broad.mit.edu	37	1	118598450	118598450	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:118598450T>G	ENST00000336338.5	-	19	2693	c.2628A>C	c.(2626-2628)aaA>aaC	p.K876N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	876						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.K876N(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCTGATGATTTTCTCATTCA	0.313																																					p.K876N												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.A2628C	1						.						128.0	130.0	129.0					1																	118598450		2203	4296	6499	118399973	SO:0001583	missense	200162	exon19				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2628A>C	1.37:g.118598450T>G	ENSP00000337804:p.Lys876Asn		118399973	NM_206996	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.935035	0.34189	.	.	ENSG00000155761	ENST00000336338	T	0.18502	2.21	5.35	-0.899	0.10547	.	0.238912	0.40064	N	0.001196	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39722	-0.9600	10	0.72032	D	0.01	.	3.2481	0.06804	0.2329:0.2714:0.0:0.4957	.	876	Q6Q759	SPG17_HUMAN	N	876	ENSP00000337804:K876N	ENSP00000337804:K876N	K	-	3	2	SPAG17	118399973	0.217000	0.23597	0.054000	0.19295	0.006000	0.05464	0.202000	0.17295	-0.296000	0.08947	0.477000	0.44152	AAA		0.313	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
SPAG17	200162	broad.mit.edu	37	1	118624162	118624162	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:118624162C>T	ENST00000336338.5	-	14	1931	c.1866G>A	c.(1864-1866)ggG>ggA	p.G622G		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	622						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.G622G(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CACACATCATCCCAGAAGGTT	0.423																																					p.G622G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1866A	1						.						171.0	159.0	163.0					1																	118624162		2203	4300	6503	118425685	SO:0001819	synonymous_variant	200162	exon14				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1866G>A	1.37:g.118624162C>T			118425685	NM_206996	Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	CCDS899.1																																																																																				0.423	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
HAO2	51179	broad.mit.edu	37	1	119927676	119927676	+	Splice_Site	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:119927676G>T	ENST00000325945.3	+	4	634	c.561G>T	c.(559-561)aaG>aaT	p.K187N	HAO2_ENST00000361035.4_Splice_Site_p.K200N	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	187	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.K187N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		CACCTAAAAAGGTAAGAAAGA	0.398																																					p.K187N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G561T	1						.						57.0	53.0	54.0					1																	119927676		2203	4300	6503	119729199	SO:0001630	splice_region_variant	51179	exon4			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.561+1G>T	1.37:g.119927676G>T			119729199	NM_016527	Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	CCDS901.1	.	.	.	.	.	.	.	.	.	.	G	6.253	0.414756	0.11870	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.28895	1.59;1.59;1.59	5.35	4.43	0.53597	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.673120	0.14108	N	0.340917	T	0.09862	0.0242	L	0.31294	0.92	0.36705	D	0.880331	B	0.06786	0.001	B	0.11329	0.006	T	0.09400	-1.0676	9	.	.	.	-8.1265	10.2733	0.43495	0.0892:0.0:0.9108:0.0	.	187	Q9NYQ3	HAOX2_HUMAN	N	162;200;187	ENSP00000393955:K162N;ENSP00000354314:K200N;ENSP00000316339:K187N	.	K	+	3	2	HAO2	119729199	1.000000	0.71417	0.964000	0.40570	0.012000	0.07955	4.480000	0.60243	1.628000	0.50416	-0.150000	0.13652	AAG		0.398	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783	Missense_Mutation
HAO2	51179	broad.mit.edu	37	1	119934802	119934802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:119934802C>T	ENST00000325945.3	+	6	914	c.841C>T	c.(841-843)Cga>Tga	p.R281*	HAO2_ENST00000361035.4_Nonsense_Mutation_p.R294*	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	281	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.R281*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGGCGGGGTCCGAACTGGCAA	0.527																																					p.R281X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C841T	1						.						150.0	141.0	144.0					1																	119934802		2203	4300	6503	119736325	SO:0001587	stop_gained	51179	exon6			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.841C>T	1.37:g.119934802C>T	ENSP00000316339:p.Arg281*		119736325	NM_016527	Q2TU86|Q5QP00|Q9UJS6	Nonsense_Mutation	SNP	ENST00000325945.3	37	CCDS901.1	.	.	.	.	.	.	.	.	.	.	C	36	5.626756	0.96671	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	.	.	.	6.07	0.452	0.16634	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.9401	9.9385	0.41565	0.4639:0.4741:0.0:0.062	.	.	.	.	X	294;281	.	.	R	+	1	2	HAO2	119736325	1.000000	0.71417	0.191000	0.23289	0.697000	0.40408	1.796000	0.38794	0.094000	0.17404	0.655000	0.94253	CGA		0.527	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783	
VPS13D	55187	broad.mit.edu	37	1	12336786	12336786	+	Silent	SNP	G	G	A	rs556902604		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:12336786G>A	ENST00000358136.3	+	19	3271	c.3141G>A	c.(3139-3141)ccG>ccA	p.P1047P	VPS13D_ENST00000356315.4_Silent_p.P1047P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.P1047P(1)		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)		TCTCTGGACCGAATGTGGCCC	0.458											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P1047P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3141A	1						.						96.0	93.0	94.0					1																	12336786		2203	4300	6503	12259373	SO:0001819	synonymous_variant	55187	exon19			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.3141G>A	1.37:g.12336786G>A		679	12259373	NM_018156		Silent	SNP	ENST00000358136.3	37	CCDS30588.1																																																																																				0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
VPS13D	55187	broad.mit.edu	37	1	12374304	12374304	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:12374304G>A	ENST00000358136.3	+	30	7198	c.7068G>A	c.(7066-7068)acG>acA	p.T2356T	VPS13D_ENST00000356315.4_Silent_p.T2356T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.T2356T(1)		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)		CTGGCATGACGAATGTGTTCA	0.483																																					p.T2356T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7068A	1						.						124.0	109.0	114.0					1																	12374304		2203	4300	6503	12296891	SO:0001819	synonymous_variant	55187	exon30			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.7068G>A	1.37:g.12374304G>A			12296891	NM_018156		Silent	SNP	ENST00000358136.3	37	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.316414	0.01331	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.32	-7.27	0.01461	.	.	.	.	.	T	0.47284	0.1437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52823	-0.8524	4	.	.	.	.	7.6	0.28071	0.1739:0.5674:0.1791:0.0796	.	.	.	.	Q	1179	.	.	R	+	2	0	VPS13D	12296891	0.001000	0.12720	0.372000	0.25991	0.015000	0.08874	-1.410000	0.02480	-0.932000	0.03742	-1.430000	0.01095	CGA		0.483	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	
AADACL4	343066	broad.mit.edu	37	1	12726318	12726318	+	Missense_Mutation	SNP	G	G	A	rs139261871		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:12726318G>A	ENST00000376221.1	+	4	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	266						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.A266T(2)		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)		CTGGCGTGACGCCATCTTGAA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19682	0.0		0.001	False		,,,				2504	0.0				p.A266T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G796A	1						.	G	THR/ALA	0,4406		0,0,2203	137.0	134.0	135.0		796	2.4	0.0	1	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	266/408	12726318	1,13005	2203	4300	6503	12648905	SO:0001583	missense	343066	exon4				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.796G>A	1.37:g.12726318G>A	ENSP00000365395:p.Ala266Thr		12648905	NM_001013630		Missense_Mutation	SNP	ENST00000376221.1	37	CCDS30590.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.05	1.524004	0.27299	0.0	1.16E-4	ENSG00000204518	ENST00000376221	T	0.59083	0.29	4.38	2.44	0.29823	.	0.382752	0.24561	N	0.037470	T	0.38268	0.1034	L	0.31294	0.92	0.09310	N	1	B	0.32731	0.382	B	0.28139	0.086	T	0.16541	-1.0399	10	0.32370	T	0.25	-20.033	7.5085	0.27560	0.1645:0.1364:0.6991:0.0	.	266	Q5VUY2	ADCL4_HUMAN	T	266	ENSP00000365395:A266T	ENSP00000365395:A266T	A	+	1	0	AADACL4	12648905	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.356000	0.07661	1.034000	0.39945	0.655000	0.94253	GCC		0.502	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630	
HNRNPCL1	343069	broad.mit.edu	37	1	12907556	12907556	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:12907556G>T	ENST00000317869.6	-	2	812	c.587C>A	c.(586-588)tCt>tAt	p.S196Y		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	196						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S196Y(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTCCAGGAGAGAATCCACTTT	0.443																																					p.S196Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C587A	1						.						105.0	117.0	113.0					1																	12907556		2158	4262	6420	12830143	SO:0001583	missense	343069	exon2			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.587C>A	1.37:g.12907556G>T	ENSP00000365370:p.Ser196Tyr		12830143	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	0.097	-1.158203	0.01686	.	.	ENSG00000179172	ENST00000317869	T	0.11169	2.8	1.09	-0.0143	0.13981	.	0.215683	0.29565	U	0.011792	T	0.09158	0.0226	L	0.53780	1.695	0.29571	N	0.849918	B	0.02656	0.0	B	0.08055	0.003	T	0.13442	-1.0509	10	0.36615	T	0.2	.	6.0736	0.19903	0.0:0.0:0.6976:0.3024	.	196	O60812	HNRCL_HUMAN	Y	196	ENSP00000365370:S196Y	ENSP00000365370:S196Y	S	-	2	0	HNRNPCL1	12830143	1.000000	0.71417	0.437000	0.26809	0.015000	0.08874	3.389000	0.52516	0.011000	0.14865	-0.786000	0.03341	TCT		0.443	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
HNRNPCL1	343069	broad.mit.edu	37	1	12907715	12907715	+	Missense_Mutation	SNP	G	G	A	rs189811978		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:12907715G>A	ENST00000317869.6	-	2	653	c.428C>T	c.(427-429)tCg>tTg	p.S143L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	143						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S143L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTGACGTTTCGAGGGCACTAC	0.483																																					p.S143L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C428T	1						.						110.0	113.0	112.0					1																	12907715		2202	4299	6501	12830302	SO:0001583	missense	343069	exon2			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.428C>T	1.37:g.12907715G>A	ENSP00000365370:p.Ser143Leu		12830302	NM_001013631	B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	.	2.269	-0.367514	0.05069	.	.	ENSG00000179172	ENST00000317869	T	0.10005	2.92	0.343	0.343	0.16001	.	0.086995	0.47852	U	0.000212	T	0.05868	0.0153	L	0.29908	0.895	0.50171	D	0.999857	B	0.10296	0.003	B	0.09377	0.004	T	0.35500	-0.9786	10	0.11182	T	0.66	.	6.4983	0.22153	2.0E-4:0.0:0.9998:0.0	.	143	O60812	HNRCL_HUMAN	L	143	ENSP00000365370:S143L	ENSP00000365370:S143L	S	-	2	0	HNRNPCL1	12830302	1.000000	0.71417	0.003000	0.11579	0.009000	0.06853	4.032000	0.57274	0.416000	0.25844	0.416000	0.27883	TCG		0.483	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
NOTCH2	4853	broad.mit.edu	37	1	120512210	120512210	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:120512210G>A	ENST00000256646.2	-	6	1251	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	344	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.F344F(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGGAGGCGAAGGCACAAT	0.567			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.F344F			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032T	1						.						173.0	122.0	139.0					1																	120512210		2203	4300	6503	120313733	SO:0001819	synonymous_variant	4853	exon6	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1032C>T	1.37:g.120512210G>A			120313733	NM_024408	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.567	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
NOTCH2NL	388677	broad.mit.edu	37	1	145282014	145282014	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:145282014G>T	ENST00000369340.3	+	6	1138	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	NOTCH2NL_ENST00000362074.6_Nonsense_Mutation_p.E232*|NOTCH2NL_ENST00000344859.3_Intron|RP11-458D21.5_ENST00000468030.1_Intron			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	232					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E232*(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GAATGGAAAAGAACACGATGA	0.373																																					p.E232X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G694T	1						.						159.0	159.0	159.0					1																	145282014		2203	4300	6503	143993371	SO:0001587	stop_gained	388677	exon5				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.694G>T	1.37:g.145282014G>T	ENSP00000358346:p.Glu232*		143993371	NM_203458	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Nonsense_Mutation	SNP	ENST00000369340.3	37	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603599	0.87157	.	.	ENSG00000213240	ENST00000362074;ENST00000369340	.	.	.	2.74	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.20074	N	0.999934	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	9.0642	0.36453	0.0:0.0:1.0:0.0	.	.	.	.	X	232	.	ENSP00000354929:E232X	E	+	1	0	NOTCH2NL	143993371	0.000000	0.05858	0.068000	0.19968	0.107000	0.19398	0.113000	0.15499	1.532000	0.49169	0.194000	0.17425	GAA		0.373	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458	
PEX11B	8799	broad.mit.edu	37	1	145518190	145518190	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:145518190G>A	ENST00000369306.3	+	3	441	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	GNRHR2_ENST00000312753.5_RNA|PEX11B_ENST00000537888.1_Missense_Mutation_p.A84T	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	98				A -> V (in Ref. 7; AAH11963). {ECO:0000305}.	peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)	p.A98T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGTACTTCGCCTGTGACAA	0.512																																					p.A84T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	1						.						213.0	184.0	194.0					1																	145518190		2203	4300	6503	144229547	SO:0001583	missense	8799	exon3			AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"""peroxisomal biogenesis factor 11B"""			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.292G>A	1.37:g.145518190G>A	ENSP00000358312:p.Ala98Thr		144229547	NM_001184795	B3KN85|B4DXH9|Q96ET2	Missense_Mutation	SNP	ENST00000369306.3	37	CCDS917.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684775	0.88639	.	.	ENSG00000131779	ENST00000369306;ENST00000537888	T;T	0.42513	0.97;0.97	5.04	3.18	0.36537	.	0.057013	0.64402	D	0.000002	T	0.17492	0.0420	L	0.51422	1.61	0.58432	D	0.999993	P;P	0.41420	0.749;0.749	B;B	0.36378	0.223;0.223	T	0.02505	-1.1149	10	0.28530	T	0.3	-2.3025	9.5427	0.39262	0.1712:0.0:0.8288:0.0	.	84;98	B4DXH9;O96011	.;PX11B_HUMAN	T	98;84	ENSP00000358312:A98T;ENSP00000437510:A84T	ENSP00000358312:A98T	A	+	1	0	PEX11B	144229547	1.000000	0.71417	0.988000	0.46212	0.960000	0.62799	5.202000	0.65169	0.732000	0.32470	0.655000	0.94253	GCC		0.512	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038549.1	NM_003846	
BCL9	607	broad.mit.edu	37	1	147091363	147091363	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:147091363G>A	ENST00000234739.3	+	8	2142	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	468	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.E468K(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TATGACTCCCGAGCAGATAGC	0.498			T	"""IGH@, IGL@"""	B-ALL																																p.E468K			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1402A	1						.						49.0	53.0	52.0					1																	147091363		2203	4300	6503	145557987	SO:0001583	missense	607	exon8			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1402G>A	1.37:g.147091363G>A	ENSP00000234739:p.Glu468Lys		145557987	NM_004326	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661631	0.88154	.	.	ENSG00000116128	ENST00000234739	T	0.79454	-1.27	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85500	0.5711	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.85695	0.1309	10	0.87932	D	0	-22.0103	19.614	0.95622	0.0:0.0:1.0:0.0	.	468;468	Q1JQ81;O00512	.;BCL9_HUMAN	K	468	ENSP00000234739:E468K	ENSP00000234739:E468K	E	+	1	0	BCL9	145557987	1.000000	0.71417	0.974000	0.42286	0.969000	0.65631	9.411000	0.97342	2.873000	0.98535	0.561000	0.74099	GAG		0.498	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
GJA8	2703	broad.mit.edu	37	1	147380308	147380308	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:147380308C>T	ENST00000369235.1	+	1	226	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	GJA8_ENST00000240986.4_Missense_Mutation_p.R76C			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	76			R -> C (in CTRCT1). {ECO:0000269|PubMed:23508780}.		cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.R76C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CTCCCACATTCGCCTCTGGGT	0.612																																					p.R76C	Melanoma(76;1255 1795 8195 52096)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C226T	1						.						150.0	116.0	128.0					1																	147380308		2203	4300	6503	145846932	SO:0001583	missense	2703	exon2			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.226C>T	1.37:g.147380308C>T	ENSP00000358238:p.Arg76Cys		145846932	NM_005267	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.203201	0.79127	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99503	-6.03;-6.03	5.2	5.2	0.72013	Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97484	1.0049	10	0.87932	D	0	.	13.6667	0.62401	0.1547:0.8453:0.0:0.0	.	76	P48165	CXA8_HUMAN	C	76	ENSP00000240986:R76C;ENSP00000358238:R76C	ENSP00000240986:R76C	R	+	1	0	GJA8	145846932	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.004000	0.49513	2.409000	0.81822	0.491000	0.48974	CGC		0.612	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267	
SF3B4	10262	broad.mit.edu	37	1	149898396	149898396	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:149898396C>T	ENST00000271628.8	-	3	1162	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	193					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)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R193P(1)|p.R193Q(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGCCAGAAGTCGTTCGGCTGC	0.562																																					p.R193Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G578A	1						.						79.0	76.0	77.0					1																	149898396		2203	4300	6503	148165020	SO:0001583	missense	10262	exon3			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.578G>A	1.37:g.149898396C>T	ENSP00000271628:p.Arg193Gln		148165020	NM_005850	Q5SZ63	Missense_Mutation	SNP	ENST00000271628.8	37	CCDS941.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457549	0.96240	.	.	ENSG00000143368	ENST00000271628;ENST00000457312	T;T	0.28895	1.59;2.58	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	L	0.60067	1.865	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67231	0.95;0.95	T	0.42292	-0.9460	10	0.87932	D	0	.	16.9828	0.86333	0.0:1.0:0.0:0.0	.	193;193	Q53FG6;Q15427	.;SF3B4_HUMAN	Q	193;150	ENSP00000271628:R193Q;ENSP00000391114:R150Q	ENSP00000271628:R193Q	R	-	2	0	SF3B4	148165020	1.000000	0.71417	0.951000	0.38953	0.983000	0.72400	7.317000	0.79018	2.552000	0.86080	0.643000	0.83706	CGA		0.562	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850	
VPS45	11311	broad.mit.edu	37	1	150054879	150054879	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:150054879C>T	ENST00000369130.3	+	10	1562	c.1016C>T	c.(1015-1017)tCt>tTt	p.S339F	VPS45_ENST00000535106.1_Missense_Mutation_p.S270F|VPS45_ENST00000369128.5_Missense_Mutation_p.S234F	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	339					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGAACTGTCTCGATTGGTC	0.453																																					p.S339F												.	.	0			c.C1016T	1						.						157.0	150.0	153.0					1																	150054879		2203	4300	6503	148321503	SO:0001583	missense	11311	exon10			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1016C>T	1.37:g.150054879C>T	ENSP00000358126:p.Ser339Phe		148321503	NM_007259	D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	CCDS944.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114118	0.77210	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106;ENST00000419023	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.80581	0.4650	M	0.84773	2.715	0.80722	D	1	P;B;P;B	0.40638	0.725;0.114;0.722;0.114	B;B;B;B	0.43274	0.316;0.199;0.414;0.199	D	0.83511	0.0080	10	0.66056	D	0.02	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	234;339;159;339	F5H8K1;Q53FR8;A0AR27;Q9NRW7	.;.;.;VPS45_HUMAN	F	339;234;214;270;270	ENSP00000358126:S339F;ENSP00000358124:S234F;ENSP00000440690:S270F;ENSP00000400143:S270F	ENSP00000358124:S234F	S	+	2	0	VPS45	148321503	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.640000	0.83355	2.788000	0.95919	0.650000	0.86243	TCT		0.453	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259	
CIART	148523	broad.mit.edu	37	1	150256221	150256221	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:150256221G>T	ENST00000290363.5	+	2	822	c.373G>T	c.(373-375)Gaa>Taa	p.E125*	C1orf51_ENST00000369094.1_Nonsense_Mutation_p.E37*|C1orf51_ENST00000469255.1_Intron|C1orf51_ENST00000369095.1_Nonsense_Mutation_p.E125*	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		125					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)	p.E125*(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAGTGTAAAGAACTCCAAGG	0.438																																					p.E125X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G373T	1						.						118.0	107.0	111.0					1																	150256221		2203	4300	6503	148522845	SO:0001587	stop_gained	148523	exon2																														ENST00000290363.5:c.373G>T	1.37:g.150256221G>T	ENSP00000290363:p.Glu125*		148522845	NM_144697	B2RD43|D3DV01|Q8N795|Q96MG6	Nonsense_Mutation	SNP	ENST00000290363.5	37	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554875	0.96514	.	.	ENSG00000159208	ENST00000447007;ENST00000369095;ENST00000369094;ENST00000417398;ENST00000290363	.	.	.	5.02	5.02	0.67125	.	0.057284	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7498	13.716	0.62697	0.0:0.0:1.0:0.0	.	.	.	.	X	37;125;37;37;125	.	ENSP00000290363:E125X	E	+	1	0	C1orf51	148522845	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.002000	0.70693	2.607000	0.88179	0.655000	0.94253	GAA		0.438	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1		
CIART	148523	broad.mit.edu	37	1	150259295	150259295	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:150259295A>G	ENST00000290363.5	+	5	1536	c.1087A>G	c.(1087-1089)Acc>Gcc	p.T363A	C1orf51_ENST00000369094.1_Missense_Mutation_p.T275A|C1orf51_ENST00000369095.1_Missense_Mutation_p.T363A	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		363					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)	p.T363A(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAAAGATGACCATAGGACA	0.547																																					p.T363A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1087G	1						.						101.0	91.0	94.0					1																	150259295		2203	4300	6503	148525919	SO:0001583	missense	148523	exon5																														ENST00000290363.5:c.1087A>G	1.37:g.150259295A>G	ENSP00000290363:p.Thr363Ala		148525919	NM_144697	B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	CCDS949.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493635	0.26774	.	.	ENSG00000159208	ENST00000369095;ENST00000369094;ENST00000290363	.	.	.	4.19	0.376	0.16193	.	0.695351	0.13853	N	0.358210	T	0.13841	0.0335	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.27571	-1.0070	8	.	.	.	-12.55	4.7816	0.13204	0.5151:0.3814:0.1034:0.0	.	363	Q8N365	CA051_HUMAN	A	363;275;363	.	.	T	+	1	0	C1orf51	148525919	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.150000	0.16263	0.051000	0.15978	0.459000	0.35465	ACC		0.547	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1		
RPRD2	23248	broad.mit.edu	37	1	150443552	150443552	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:150443552C>T	ENST00000369068.4	+	11	2132	c.2128C>T	c.(2128-2130)Cgt>Tgt	p.R710C	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.R684C|RPRD2_ENST00000539519.1_Missense_Mutation_p.R684C	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	710	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.R710C(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGACTTCCAGCGTGGCCCTAC	0.532																																					p.R710C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2128T	1						.						72.0	76.0	75.0					1																	150443552		2017	4181	6198	148710176	SO:0001583	missense	23248	exon11			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2128C>T	1.37:g.150443552C>T	ENSP00000358064:p.Arg710Cys		148710176	NM_015203	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802807	0.70682	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.51817	0.69;0.75;0.69	5.34	5.34	0.76211	.	0.068640	0.64402	D	0.000011	T	0.49966	0.1588	N	0.24115	0.695	0.58432	D	0.999997	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.72625	0.93;0.952;0.978	T	0.56135	-0.8029	10	0.87932	D	0	-7.2975	19.2381	0.93869	0.0:1.0:0.0:0.0	.	684;710;684	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	C	684;684;710	ENSP00000383785:R684C;ENSP00000445482:R684C;ENSP00000358064:R710C	ENSP00000358064:R710C	R	+	1	0	RPRD2	148710176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.896000	0.63222	2.779000	0.95612	0.655000	0.94253	CGT		0.532	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203	
HORMAD1	84072	broad.mit.edu	37	1	150672620	150672620	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:150672620G>A	ENST00000361824.2	-	14	1177	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	HORMAD1_ENST00000368993.2_Missense_Mutation_p.R358W|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R351W|GOLPH3L_ENST00000540514.1_5'Flank|RNU6-1042P_ENST00000384204.1_RNA|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R278W	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	358					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.R358W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTTCTCTTCCGATTTTCTTTG	0.318																																					p.R351W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1051T	1						.						159.0	144.0	149.0					1																	150672620		2202	4299	6501	148939244	SO:0001583	missense	84072	exon13			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1072C>T	1.37:g.150672620G>A	ENSP00000355167:p.Arg358Trp		148939244	NM_001199829	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	ENST00000361824.2	37	CCDS967.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230371	0.58777	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.47869	0.83;1.42;1.42;1.42	4.98	2.92	0.33932	.	0.387626	0.27826	N	0.017692	T	0.35364	0.0929	N	0.24115	0.695	0.30488	N	0.771636	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.65140	0.932;0.932;0.798	T	0.20605	-1.0270	10	0.87932	D	0	-0.0815	9.5296	0.39185	0.0:0.0:0.5905:0.4095	.	278;351;358	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	W	278;358;287;278;351;358	ENSP00000357991:R278W;ENSP00000357989:R358W;ENSP00000326489:R351W;ENSP00000355167:R358W	ENSP00000326489:R351W	R	-	1	2	HORMAD1	148939244	0.988000	0.35896	0.999000	0.59377	0.844000	0.47949	0.941000	0.29005	1.299000	0.44798	0.460000	0.39030	CGG		0.318	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132	
CTSS	1520	broad.mit.edu	37	1	150722510	150722510	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:150722510A>G	ENST00000368985.3	-	6	1025	c.765T>C	c.(763-765)cgT>cgC	p.R255R	CTSS_ENST00000448301.2_Silent_p.R205R|CTSS_ENST00000480760.1_Intron	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	255					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|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-independent (GO:0002480)|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)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R255R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AAGAAGGATGACGCGCATCTA	0.398																																					p.R255R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T765C	1						.						94.0	80.0	85.0					1																	150722510		2203	4300	6503	148989134	SO:0001819	synonymous_variant	1520	exon6			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.765T>C	1.37:g.150722510A>G			148989134	NM_004079	B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Silent	SNP	ENST00000368985.3	37	CCDS968.1																																																																																				0.398	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079	
SETDB1	9869	broad.mit.edu	37	1	150923181	150923181	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:150923181C>T	ENST00000271640.5	+	13	2018	c.1828C>T	c.(1828-1830)Cgg>Tgg	p.R610W	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.R610W	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	610	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R610W(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGACTTCCGGCGGATGACAGC	0.522																																					p.R610W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1828T	1						.						85.0	83.0	83.0					1																	150923181		2203	4300	6503	149189805	SO:0001583	missense	9869	exon13			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1828C>T	1.37:g.150923181C>T	ENSP00000271640:p.Arg610Trp		149189805	NM_001145415	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737853	0.69304	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;D	0.99704	-6.46;-0.35;-6.46;-6.46	5.42	-0.811	0.10857	Methyl-CpG DNA binding (3);DNA-binding, integrase-type (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.996;0.998	D	0.97857	1.0278	10	0.87932	D	0	.	17.814	0.88625	0.7043:0.2957:0.0:0.0	.	610;611;610;610	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	W	610;611;610;610	ENSP00000271640:R610W;ENSP00000436148:R611W;ENSP00000357965:R610W;ENSP00000432348:R610W	ENSP00000271640:R610W	R	+	1	2	SETDB1	149189805	0.927000	0.31430	0.995000	0.50966	0.875000	0.50365	0.848000	0.27710	-0.107000	0.12088	-0.122000	0.15005	CGG		0.522	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		
SEMA6C	10500	broad.mit.edu	37	1	151107736	151107736	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:151107736C>G	ENST00000341697.3	-	15	3174	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	495	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGTCCAGCTCCAGCCCTATG	0.577																																					p.E495Q												.	.	0			c.G1483C	1						.						163.0	150.0	154.0					1																	151107736		2203	4300	6503	149374360	SO:0001583	missense	10500	exon15			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1483G>C	1.37:g.151107736C>G	ENSP00000344148:p.Glu495Gln		149374360	NM_001178061	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047988	0.36085	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.82	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.115453	0.56097	D	0.000023	T	0.07098	0.0180	N	0.12887	0.27	0.43522	D	0.995792	B;P;B;P	0.52316	0.046;0.952;0.036;0.92	B;P;B;B	0.50270	0.024;0.636;0.087;0.433	T	0.10894	-1.0610	10	0.07990	T	0.79	.	11.1744	0.48590	0.0:0.8143:0.1857:0.0	.	495;455;495;495	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	Q	495;455;495;495	ENSP00000357910:E495Q;ENSP00000357908:E455Q;ENSP00000357909:E495Q;ENSP00000344148:E495Q	ENSP00000344148:E495Q	E	-	1	0	SEMA6C	149374360	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.722000	0.38042	2.526000	0.85167	0.561000	0.74099	GAG		0.577	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913	
PIP5K1A	8394	broad.mit.edu	37	1	151210723	151210723	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:151210723A>C	ENST00000368888.4	+	10	1633	c.1211A>C	c.(1210-1212)gAc>gCc	p.D404A	PIP5K1A_ENST00000409426.1_Missense_Mutation_p.D392A|PIP5K1A_ENST00000414290.2_Missense_Mutation_p.D105A|PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.D391A	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	404	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.D404A(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCATCATTGACATTCTACAG	0.428																																					p.D391A	Pancreas(80;36 1443 2325 16095 21302)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1172C	1						.						93.0	89.0	90.0					1																	151210723		2203	4300	6503	149477347	SO:0001583	missense	8394	exon9			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1211A>C	1.37:g.151210723A>C	ENSP00000357883:p.Asp404Ala		149477347	NM_003557	A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607739	0.87258	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000368890;ENST00000368888;ENST00000414290	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	4.71	4.71	0.59529	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.96074	0.8721	H	0.99573	4.635	0.80722	D	1	D;D;D;D	0.76494	0.999;0.979;0.998;0.979	D;P;D;P	0.85130	0.997;0.742;0.992;0.846	D	0.97414	1.0004	10	0.87932	D	0	.	13.1636	0.59558	1.0:0.0:0.0:0.0	.	105;391;404;391	B4DY52;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	A	391;392;391;404;105	ENSP00000271663:D391A;ENSP00000386432:D392A;ENSP00000357885:D391A;ENSP00000357883:D404A;ENSP00000388800:D105A	ENSP00000271663:D391A	D	+	2	0	PIP5K1A	149477347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.805000	0.91925	1.999000	0.58509	0.533000	0.62120	GAC		0.428	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557	
SNX27	81609	broad.mit.edu	37	1	151665461	151665461	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:151665461C>T	ENST00000458013.2	+	10	1584	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F	SNX27_ENST00000368838.1_Silent_p.F395F|SNX27_ENST00000368843.3_Silent_p.F488F			Q96L92	SNX27_HUMAN	sorting nexin family member 27	488	FERM-like region F3.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.F488F(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTCTGTTTCGAATATGCAC	0.448																																					p.F488F	Colon(46;291 966 40145 41237 41888)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1464T	1						.						142.0	140.0	141.0					1																	151665461		2203	4300	6503	149932085	SO:0001819	synonymous_variant	81609	exon10			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1464C>T	1.37:g.151665461C>T			149932085	NM_030918	Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Silent	SNP	ENST00000458013.2	37																																																																																					0.448	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918	
MRPL9	65005	broad.mit.edu	37	1	151732590	151732590	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:151732590C>A	ENST00000368830.3	-	7	824	c.740G>T	c.(739-741)aGa>aTa	p.R247I	OAZ3_ENST00000321531.5_5'Flank|MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Missense_Mutation_p.R213I|RP11-98D18.15_ENST00000601684.1_RNA|OAZ3_ENST00000315067.8_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	247					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R247I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTACTTATATCTTTTGGTCTT	0.493																																					p.R247I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G740T	1						.						87.0	85.0	85.0					1																	151732590		2203	4300	6503	149999214	SO:0001583	missense	65005	exon7			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.740G>T	1.37:g.151732590C>A	ENSP00000357823:p.Arg247Ile		149999214	NM_031420	B2RD99|Q5SZR2|Q9BSW8	Missense_Mutation	SNP	ENST00000368830.3	37	CCDS1003.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656936	0.67586	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	T;T	0.38887	1.11;1.28	5.16	5.16	0.70880	.	0.331079	0.28192	N	0.016257	T	0.52517	0.1739	M	0.72118	2.19	0.53688	D	0.999976	D	0.65815	0.995	P	0.61533	0.89	T	0.56535	-0.7963	10	0.87932	D	0	-4.9614	14.0254	0.64582	0.0:1.0:0.0:0.0	.	247	Q9BYD2	RM09_HUMAN	I	247;213	ENSP00000357823:R247I;ENSP00000357822:R213I	ENSP00000357822:R213I	R	-	2	0	MRPL9	149999214	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	4.299000	0.59073	2.670000	0.90874	0.650000	0.86243	AGA		0.493	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420	
LINGO4	339398	broad.mit.edu	37	1	151774948	151774948	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:151774948C>T	ENST00000368820.3	-	2	1170	c.233G>A	c.(232-234)gGa>gAa	p.G78E		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	78						integral component of membrane (GO:0016021)		p.G78E(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGAGCATTCCCTGCTGGAG	0.617																																					p.G78E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G233A	1						.						57.0	49.0	51.0					1																	151774948		2203	4300	6503	150041572	SO:0001583	missense	339398	exon2				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.233G>A	1.37:g.151774948C>T	ENSP00000357810:p.Gly78Glu		150041572	NM_001004432		Missense_Mutation	SNP	ENST00000368820.3	37	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	C	3.200	-0.163895	0.06502	.	.	ENSG00000213171	ENST00000368820	T	0.57595	0.39	5.28	5.28	0.74379	.	0.000000	0.48286	D	0.000200	T	0.21590	0.0520	L	0.37561	1.115	0.42656	D	0.993468	B	0.28470	0.213	B	0.33960	0.173	T	0.05257	-1.0896	10	0.02654	T	1	.	9.7554	0.40500	0.0:0.9089:0.0:0.0911	.	78	Q6UY18	LIGO4_HUMAN	E	78	ENSP00000357810:G78E	ENSP00000357810:G78E	G	-	2	0	LINGO4	150041572	0.034000	0.19679	0.809000	0.32408	0.762000	0.43233	1.637000	0.37155	2.753000	0.94483	0.455000	0.32223	GGA		0.617	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387	
THEM4	117145	broad.mit.edu	37	1	151860757	151860757	+	Missense_Mutation	SNP	A	A	C	rs528010461	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:151860757A>C	ENST00000368814.3	-	4	898	c.549T>G	c.(547-549)aaT>aaG	p.N183K	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	183					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.N183K(1)		endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCTTTTATAATTGATGTTGA	0.398																																					p.N183K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T549G	1						.						100.0	89.0	92.0					1																	151860757		2203	4300	6503	150127381	SO:0001583	missense	117145	exon4			AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.549T>G	1.37:g.151860757A>C	ENSP00000357804:p.Asn183Lys		150127381	NM_053055	B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	CCDS1006.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770454	0.31320	.	.	ENSG00000159445	ENST00000368814	T	0.24908	1.83	5.11	1.63	0.23807	Thioesterase superfamily (1);	0.252799	0.36555	N	0.002533	T	0.13586	0.0329	M	0.64676	1.99	0.80722	D	1	B	0.31611	0.331	B	0.41236	0.351	T	0.05533	-1.0879	10	0.23891	T	0.37	-9.1529	5.8758	0.18828	0.6768:0.0:0.3232:0.0	.	183	Q5T1C6	THEM4_HUMAN	K	183	ENSP00000357804:N183K	ENSP00000357804:N183K	N	-	3	2	THEM4	150127381	0.957000	0.32711	0.924000	0.36721	0.980000	0.70556	0.456000	0.21859	0.487000	0.27698	0.533000	0.62120	AAT		0.398	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055	
S100A11	6282	broad.mit.edu	37	1	152005225	152005225	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:152005225G>T	ENST00000271638.2	-	3	350	c.231C>A	c.(229-231)ttC>ttA	p.F77L	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	77	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)	p.F77L(1)		large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GAAATTCTGAGAAATCTAGCT	0.493																																					p.F77L	Colon(152;1751 1834 12462 21158 46902)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C231A	1						.						72.0	68.0	69.0					1																	152005225		2203	4300	6503	150271849	SO:0001583	missense	6282	exon3			D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10488	protein-coding gene	gene with protein product		603114	"""S100 calcium-binding protein A11 (calgizzarin)"", ""S100 calcium binding protein A11 (calgizzarin)"""			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.231C>A	1.37:g.152005225G>T	ENSP00000271638:p.Phe77Leu		150271849	NM_005620	Q5VTK0	Missense_Mutation	SNP	ENST00000271638.2	37	CCDS1009.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181404	0.38511	.	.	ENSG00000163191	ENST00000271638	T	0.10860	2.83	4.98	3.05	0.35203	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000008	T	0.17365	0.0417	H	0.95850	3.73	0.46499	D	0.999071	P	0.37955	0.612	B	0.43623	0.425	T	0.01532	-1.1331	10	0.87932	D	0	.	7.9995	0.30288	0.2026:0.0:0.7974:0.0	.	77	P31949	S10AB_HUMAN	L	77	ENSP00000271638:F77L	ENSP00000271638:F77L	F	-	3	2	S100A11	150271849	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	1.853000	0.39358	1.219000	0.43474	0.491000	0.48974	TTC		0.493	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036676.1	NM_005620	
TCHHL1	126637	broad.mit.edu	37	1	152057445	152057445	+	Nonstop_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:152057445A>C	ENST00000368806.1	-	3	2777	c.2713T>G	c.(2713-2715)Tga>Gga	p.*905G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	0							calcium ion binding (GO:0005509)	p.*905G(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATAATGATTCATTGCTTTGTG	0.458																																					p.X905G												.	.	1	Nonstop extension(1)	large_intestine(1)	c.T2713G	1						.						142.0	135.0	137.0					1																	152057445		2203	4300	6503	150324069	SO:0001578	stop_lost	126637	exon3				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2713T>G	1.37:g.152057445A>C	ENSP00000357796:p.*905Argext*27		150324069	NM_001008536	B2RPK8|Q5VTJ9	Nonstop_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	6.005	0.369284	0.11352	.	.	ENSG00000182898	ENST00000368806	.	.	.	5.03	2.72	0.32119	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4043	0.21656	0.8006:0.0:0.1994:0.0	.	.	.	.	G	905	.	.	X	-	1	0	TCHHL1	150324069	0.188000	0.23250	0.018000	0.16275	0.059000	0.15707	2.102000	0.41796	0.281000	0.22233	-0.326000	0.08463	TGA		0.458	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
HRNR	388697	broad.mit.edu	37	1	152187641	152187641	+	Missense_Mutation	SNP	G	G	A	rs56055912		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:152187641G>A	ENST00000368801.2	-	3	6539	c.6464C>T	c.(6463-6465)tCg>tTg	p.S2155L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2155					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGGAAGACGAACCTGAGCT	0.607																																					p.S2155L												.	.	0			c.C6464T	1						.	G	LEU/SER	12,4386		0,12,2187	343.0	387.0	372.0		6464	-2.3	0.0	1	dbSNP_129	372	0,8560		0,0,4280	no	missense	HRNR	NM_001009931.1	145	0,12,6467	AA,AG,GG		0.0,0.2729,0.0926	benign	2155/2851	152187641	12,12946	2199	4280	6479	150454265	SO:0001583	missense	388697	exon3			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6464C>T	1.37:g.152187641G>A	ENSP00000357791:p.Ser2155Leu		150454265	NM_001009931	Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.267	0.812392	0.16537	0.002729	0.0	ENSG00000197915	ENST00000368801	T	0.01665	4.7	3.62	-2.29	0.06805	.	.	.	.	.	T	0.00440	0.0014	L	0.38175	1.15	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.45745	-0.9240	9	0.24483	T	0.36	.	1.2624	0.02004	0.2932:0.0928:0.1541:0.4599	rs56055912	2155	Q86YZ3	HORN_HUMAN	L	2155	ENSP00000357791:S2155L	ENSP00000357791:S2155L	S	-	2	0	HRNR	150454265	.	.	0.000000	0.03702	0.005000	0.04900	.	.	-0.554000	0.06150	-0.264000	0.10439	TCG		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
FLG	2312	broad.mit.edu	37	1	152275383	152275383	+	Missense_Mutation	SNP	G	G	T	rs377051179		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:152275383G>T	ENST00000368799.1	-	3	12014	c.11979C>A	c.(11977-11979)caC>caA	p.H3993Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3993					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)	p.H3993Q(1)		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)			CGTGCTGAGAGTGTCTAAACC	0.418									Ichthyosis																												p.H3993Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11979A	1						.						143.0	127.0	132.0					1																	152275383		2203	4300	6503	150542007	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.11979C>A	1.37:g.152275383G>T	ENSP00000357789:p.His3993Gln		150542007	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.081	0.200642	0.09652	.	.	ENSG00000143631	ENST00000368799	T	0.00664	5.92	4.05	-7.51	0.01346	.	.	.	.	.	T	0.00178	0.0005	L	0.36672	1.1	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.45101	-0.9284	9	0.15952	T	0.53	.	0.2321	0.00181	0.351:0.1451:0.2254:0.2785	.	3993	P20930	FILA_HUMAN	Q	3993	ENSP00000357789:H3993Q	ENSP00000357789:H3993Q	H	-	3	2	FLG	150542007	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.021000	0.00642	-1.359000	0.02174	-0.171000	0.13296	CAC		0.418	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152280161	152280161	+	Missense_Mutation	SNP	G	G	A	rs553468192		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:152280161G>A	ENST00000368799.1	-	3	7236	c.7201C>T	c.(7201-7203)Cgt>Tgt	p.R2401C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2401	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)	p.R2401C(1)		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)			GACCGGCCACGTGTGGACTCT	0.602									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		21389	0.0		0.0	False		,,,				2504	0.001				p.R2401C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7201T	1						.						78.0	80.0	79.0					1																	152280161		2201	4279	6480	150546785	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.7201C>T	1.37:g.152280161G>A	ENSP00000357789:p.Arg2401Cys		150546785	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.493	1.101075	0.20552	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01871	4.59	3.58	-0.763	0.11030	.	.	.	.	.	T	0.00815	0.0027	M	0.78916	2.43	0.09310	N	1	P	0.49559	0.925	B	0.32211	0.142	T	0.45469	-0.9259	9	0.72032	D	0.01	.	0.7255	0.00948	0.2552:0.2792:0.3031:0.1625	.	2401	P20930	FILA_HUMAN	C	2401;311	ENSP00000357789:R2401C	ENSP00000271820:R311C	R	-	1	0	FLG	150546785	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.165000	0.09968	-0.020000	0.14032	-0.443000	0.05667	CGT		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152281467	152281467	+	Silent	SNP	G	G	A	rs147091039	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:152281467G>A	ENST00000368799.1	-	3	5930	c.5895C>T	c.(5893-5895)gcC>gcT	p.A1965A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1965	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)	p.A1965A(1)		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)			GCCCGTGACCGGCTCTGTCTT	0.567									Ichthyosis				-|||	2	0.000399361	0.0	0.0	5008	,	,		26403	0.002		0.0	False		,,,				2504	0.0				p.A1965A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5895T	1						.	G		0,4406		0,0,2203	324.0	300.0	308.0		5895	-3.0	0.0	1	dbSNP_134	308	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous	FLG	NM_002016.1		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		1965/4062	152281467	3,13003	2203	4300	6503	150548091	SO:0001819	synonymous_variant	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.5895C>T	1.37:g.152281467G>A			150548091	NM_002016	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152281669	152281669	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:152281669G>A	ENST00000368799.1	-	3	5728	c.5693C>T	c.(5692-5694)tCg>tTg	p.S1898L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1898	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)	p.S1898L(1)		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)			GCCCACCTGCGAGTGTCTAGA	0.567									Ichthyosis																												p.S1898L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5693T	1						.						259.0	262.0	261.0					1																	152281669		2203	4300	6503	150548293	SO:0001583	missense	2312	exon3	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	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.5693C>T	1.37:g.152281669G>A	ENSP00000357789:p.Ser1898Leu		150548293	NM_002016	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.587	0.883770	0.17467	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01685	4.69	2.11	1.14	0.20703	.	.	.	.	.	T	0.03263	0.0095	M	0.79805	2.47	0.09310	N	1	D	0.69078	0.997	D	0.72982	0.979	T	0.35748	-0.9776	9	0.51188	T	0.08	.	6.0222	0.19634	0.0:0.0:0.6973:0.3027	.	1898	P20930	FILA_HUMAN	L	1898;133	ENSP00000357789:S1898L	ENSP00000271820:S133L	S	-	2	0	FLG	150548293	0.985000	0.35326	0.001000	0.08648	0.006000	0.05464	0.711000	0.25764	0.412000	0.25729	0.586000	0.80456	TCG		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	broad.mit.edu	37	1	152324155	152324155	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:152324155C>T	ENST00000388718.5	-	3	6179	c.6107G>A	c.(6106-6108)aGt>aAt	p.S2036N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2036					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S2036N(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCCTTCACTGTCACTGTA	0.542																																					p.S2036N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6107A	1						.						461.0	427.0	439.0					1																	152324155		2203	4300	6503	150590779	SO:0001583	missense	388698	exon3			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6107G>A	1.37:g.152324155C>T	ENSP00000373370:p.Ser2036Asn		150590779	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859787	0.32884	.	.	ENSG00000143520	ENST00000388718	T	0.37058	1.22	4.41	-5.89	0.02282	.	.	.	.	.	T	0.12944	0.0314	L	0.40543	1.245	0.09310	N	1	P	0.47409	0.895	P	0.44597	0.454	T	0.18808	-1.0325	9	0.28530	T	0.3	-0.7735	11.1357	0.48373	0.2082:0.2247:0.567:0.0	.	2036	Q5D862	FILA2_HUMAN	N	2036	ENSP00000373370:S2036N	ENSP00000373370:S2036N	S	-	2	0	FLG2	150590779	.	.	0.000000	0.03702	0.044000	0.14063	.	.	-0.735000	0.04837	0.297000	0.19635	AGT		0.542	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLG2	388698	broad.mit.edu	37	1	152324678	152324678	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:152324678G>T	ENST00000388718.5	-	3	5656	c.5584C>A	c.(5584-5586)Cat>Aat	p.H1862N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1862					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1862N(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTCCATGACCAGATTGA	0.502																																					p.H1862N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5584A	1						.						330.0	288.0	302.0					1																	152324678		2203	4300	6503	150591302	SO:0001583	missense	388698	exon3			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5584C>A	1.37:g.152324678G>T	ENSP00000373370:p.His1862Asn		150591302	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929599	0.34096	.	.	ENSG00000143520	ENST00000388718	T	0.08546	3.08	3.99	1.0	0.19881	.	.	.	.	.	T	0.02610	0.0079	M	0.65975	2.015	0.09310	N	1	B	0.33694	0.421	B	0.26864	0.074	T	0.41680	-0.9495	9	0.27785	T	0.31	-3.1023	6.6236	0.22816	0.3178:0.0:0.6822:0.0	.	1862	Q5D862	FILA2_HUMAN	N	1862	ENSP00000373370:H1862N	ENSP00000373370:H1862N	H	-	1	0	FLG2	150591302	0.008000	0.16893	0.000000	0.03702	0.004000	0.04260	0.896000	0.28377	0.124000	0.18369	-0.309000	0.09137	CAT		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
CRTC2	200186	broad.mit.edu	37	1	153923773	153923773	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:153923773G>A	ENST00000368633.1	-	11	1494	c.1367C>T	c.(1366-1368)tCg>tTg	p.S456L	CRTC2_ENST00000368630.3_Missense_Mutation_p.S136L|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	456					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.S456L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CATTGTTGGCGAAAACTGTTT	0.607																																					p.S456L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1367T	1						.						74.0	60.0	65.0					1																	153923773		2203	4300	6503	152190397	SO:0001583	missense	200186	exon11			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1367C>T	1.37:g.153923773G>A	ENSP00000357622:p.Ser456Leu		152190397	NM_181715	Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920430	0.73098	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.58210	0.35;2.37	4.99	4.99	0.66335	.	0.242590	0.34676	N	0.003774	T	0.41971	0.1182	M	0.74881	2.28	0.45342	D	0.998332	D	0.54601	0.967	B	0.44085	0.44	T	0.36553	-0.9743	10	0.20046	T	0.44	-6.9495	13.6478	0.62292	0.0:0.0:1.0:0.0	.	456	Q53ET0	CRTC2_HUMAN	L	136;456	ENSP00000357619:S136L;ENSP00000357622:S456L	ENSP00000357619:S136L	S	-	2	0	CRTC2	152190397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.712000	0.91403	2.602000	0.87976	0.557000	0.71058	TCG		0.607	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715	
NUP210L	91181	broad.mit.edu	37	1	154026780	154026780	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:154026780A>G	ENST00000368559.3	-	25	3478	c.3407T>C	c.(3406-3408)aTt>aCt	p.I1136T	NUP210L_ENST00000368553.1_Missense_Mutation_p.I69T|NUP210L_ENST00000271854.3_Missense_Mutation_p.I1136T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1136					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.I1136T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGTGCCAACAATCTTCCCTGT	0.478																																					p.I1136T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3407C	1						.						163.0	155.0	158.0					1																	154026780		1973	4145	6118	152293404	SO:0001583	missense	91181	exon25			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3407T>C	1.37:g.154026780A>G	ENSP00000357547:p.Ile1136Thr		152293404	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	A	2.586	-0.296333	0.05532	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.40225	1.04;1.04;1.04	5.03	1.1	0.20463	Bacterial Ig-like, group 2 (2);Invasin/intimin cell-adhesion (1);	0.644150	0.14301	N	0.328244	T	0.04543	0.0124	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38929	-0.9638	10	0.30078	T	0.28	-19.8154	3.7063	0.08401	0.5399:0.0:0.3034:0.1567	.	1136;1136	E7EP56;Q5VU65	.;P210L_HUMAN	T	1136;69;1136	ENSP00000357547:I1136T;ENSP00000357541:I69T;ENSP00000271854:I1136T	ENSP00000271854:I1136T	I	-	2	0	NUP210L	152293404	0.000000	0.05858	0.867000	0.34043	0.843000	0.47879	0.093000	0.15086	0.362000	0.24319	-0.400000	0.06385	ATT		0.478	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
NUP210L	91181	broad.mit.edu	37	1	154029383	154029383	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:154029383G>T	ENST00000368559.3	-	23	3219	c.3148C>A	c.(3148-3150)Ctt>Att	p.L1050I	NUP210L_ENST00000368553.1_5'Flank|NUP210L_ENST00000271854.3_Missense_Mutation_p.L1050I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1050					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.L1050I(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTAGCTCGAAGAATATAATTT	0.408																																					p.L1050I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3148A	1						.						132.0	121.0	124.0					1																	154029383		1852	4101	5953	152296007	SO:0001583	missense	91181	exon23			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3148C>A	1.37:g.154029383G>T	ENSP00000357547:p.Leu1050Ile		152296007	NM_207308	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740392	0.49045	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.05513	3.68;3.43	4.95	4.03	0.46877	.	0.113829	0.39834	N	0.001248	T	0.06690	0.0171	L	0.46157	1.445	0.34967	D	0.752732	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.05321	-1.0892	10	0.06494	T	0.89	-26.3058	13.3739	0.60728	0.0:0.1581:0.8419:0.0	.	1050;1050	E7EP56;Q5VU65	.;P210L_HUMAN	I	1050	ENSP00000357547:L1050I;ENSP00000271854:L1050I	ENSP00000271854:L1050I	L	-	1	0	NUP210L	152296007	0.995000	0.38212	0.922000	0.36590	0.942000	0.58702	2.278000	0.43426	1.280000	0.44463	0.650000	0.86243	CTT		0.408	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
TDRD10	126668	broad.mit.edu	37	1	154519897	154519897	+	Missense_Mutation	SNP	C	C	T	rs372155332		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:154519897C>T	ENST00000368480.3	+	12	1050	c.965C>T	c.(964-966)tCg>tTg	p.S322L	TDRD10_ENST00000368482.4_Missense_Mutation_p.S322L|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	322							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S322L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATTTTGAGTTCGTATGAGGTT	0.517																																					p.S322L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C965T	1						.	C	LEU/SER,LEU/SER	0,4406		0,0,2203	188.0	143.0	158.0		965,965	3.2	0.0	1		158	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TDRD10	NM_182499.3,NM_001098475.1	145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	322/352,322/367	154519897	1,13005	2203	4300	6503	152786521	SO:0001583	missense	126668	exon12			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.965C>T	1.37:g.154519897C>T	ENSP00000357465:p.Ser322Leu		152786521	NM_182499	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161244	0.78226	0.0	1.16E-4	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.37235	1.24;1.21	5.08	3.17	0.36434	.	0.133058	0.32503	N	0.006013	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B;B	0.24132	0.059;0.098	B;B	0.16722	0.013;0.016	T	0.40590	-0.9555	10	0.05721	T	0.95	-1.2775	6.7139	0.23292	0.0:0.7261:0.1792:0.0947	.	322;322	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	L	322	ENSP00000357467:S322L;ENSP00000357465:S322L	ENSP00000357465:S322L	S	+	2	0	TDRD10	152786521	0.000000	0.05858	0.001000	0.08648	0.453000	0.32348	0.436000	0.21526	0.708000	0.31955	0.655000	0.94253	TCG		0.517	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	
ADAR	103	broad.mit.edu	37	1	154561108	154561108	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:154561108G>A	ENST00000368474.4	-	10	3003	c.2804C>T	c.(2803-2805)gCg>gTg	p.A935V	ADAR_ENST00000368471.3_Missense_Mutation_p.A640V|ADAR_ENST00000292205.5_Missense_Mutation_p.A978V	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	935	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ACTATCCTTCGCAGTCTGGGA	0.398																																					p.A890V												.	.	0			c.C2669T	1						.						112.0	109.0	110.0					1																	154561108		2203	4300	6503	152827732	SO:0001583	missense	103	exon10			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2804C>T	1.37:g.154561108G>A	ENSP00000357459:p.Ala935Val		152827732	NM_015841	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066347	0.55539	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.19	4.24	0.50183	Adenosine deaminase/editase (3);	0.684028	0.15054	N	0.283117	D	0.94003	0.8079	L	0.47190	1.495	0.09310	N	1	D;D;D	0.89917	0.996;0.986;1.0	P;P;D	0.83275	0.688;0.668;0.996	D	0.88243	0.2911	10	0.41790	T	0.15	-15.9824	17.2526	0.87046	0.0:0.1358:0.8642:0.0	.	890;909;935	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	V	978;935;640;904	ENSP00000292205:A978V;ENSP00000357459:A935V;ENSP00000357456:A640V;ENSP00000431794:A904V	ENSP00000292205:A978V	A	-	2	0	ADAR	152827732	0.040000	0.19996	0.249000	0.24280	0.661000	0.39034	2.109000	0.41863	2.695000	0.91970	0.557000	0.71058	GCG		0.398	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	
KAZN	23254	broad.mit.edu	37	1	15441006	15441006	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:15441006G>T	ENST00000376030.2	+	15	2497	c.2203G>T	c.(2203-2205)Gat>Tat	p.D735Y	TMEM51-AS1_ENST00000310916.3_RNA	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	735					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.D182Y(1)|p.D735Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CAGCAGCAAAGATCCCGATTT	0.483																																					p.D735Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2203T	1						.						75.0	61.0	66.0					1																	15441006		2203	4300	6503	15313593	SO:0001583	missense	23254	exon15			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.2203G>T	1.37:g.15441006G>T	ENSP00000365198:p.Asp735Tyr		15313593	NM_201628	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	CCDS152.2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940161	0.52972	.	.	ENSG00000189337	ENST00000376030	T	0.19806	2.12	5.32	5.32	0.75619	.	0.117394	0.38492	N	0.001680	T	0.19167	0.0460	N	0.14661	0.345	0.80722	D	1	P	0.51791	0.948	P	0.51453	0.67	T	0.05099	-1.0906	10	0.17832	T	0.49	-29.0731	14.4935	0.67667	0.0:0.0:1.0:0.0	.	735	Q674X7	KAZRN_HUMAN	Y	735	ENSP00000365198:D735Y	ENSP00000365198:D735Y	D	+	1	0	KAZN	15313593	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.861000	0.62969	2.469000	0.83416	0.655000	0.94253	GAT		0.483	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
KCNN3	3782	broad.mit.edu	37	1	154841921	154841921	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:154841921C>T	ENST00000271915.4	-	1	835	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	179					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A174T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GAGCTCATGGCGATCTCCGTG	0.667																																					p.A174T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G520A	1						.						38.0	40.0	39.0					1																	154841921		2203	4300	6503	153108545	SO:0001583	missense	3782	exon1			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.520G>A	1.37:g.154841921C>T	ENSP00000271915:p.Ala174Thr		153108545	NM_002249	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699584	0.68501	.	.	ENSG00000143603	ENST00000271915	D	0.97888	-4.59	4.75	4.75	0.60458	.	0.158329	0.29980	N	0.010718	D	0.96420	0.8832	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.985	D	0.97925	1.0317	10	0.66056	D	0.02	-25.3883	15.2952	0.73898	0.0:1.0:0.0:0.0	.	180;179	Q6JXY2;Q9UGI6	.;KCNN3_HUMAN	T	174	ENSP00000271915:A174T	ENSP00000271915:A174T	A	-	1	0	KCNN3	153108545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.461000	0.83175	0.563000	0.77884	GCC		0.667	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
TMEM51	55092	broad.mit.edu	37	1	15541769	15541769	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:15541769C>T	ENST00000428417.1	+	2	632	c.186C>T	c.(184-186)acC>acT	p.T62T	TMEM51_ENST00000400796.3_Silent_p.T62T|TMEM51_ENST00000376014.3_Silent_p.T62T|TMEM51_ENST00000376008.2_Silent_p.T62T|TMEM51_ENST00000434578.2_Silent_p.T62T	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	62						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGAGCAAGACCTTCTCTGTGG	0.622																																					p.T62T												.	.	0			c.C186T	1						.						143.0	136.0	138.0					1																	15541769		2203	4300	6503	15414356	SO:0001819	synonymous_variant	55092	exon3			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.186C>T	1.37:g.15541769C>T			15414356	NM_001136216	A8K819	Silent	SNP	ENST00000428417.1	37	CCDS154.1																																																																																				0.622	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022	
SCAMP3	10067	broad.mit.edu	37	1	155230152	155230152	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:155230152C>T	ENST00000302631.3	-	4	464	c.357G>A	c.(355-357)gaG>gaA	p.E119E	SCAMP3_ENST00000355379.3_Silent_p.E93E|SCAMP3_ENST00000472397.1_5'UTR|CLK2_ENST00000497188.1_5'Flank	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	119					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.E119E(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATGCTGCAGCTCTCGCTCCC	0.582																																					p.E93E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G279A	1						.						95.0	87.0	90.0					1																	155230152		2203	4300	6503	153496776	SO:0001819	synonymous_variant	10067	exon3			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.357G>A	1.37:g.155230152C>T			153496776	NM_052837	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Silent	SNP	ENST00000302631.3	37	CCDS1105.1																																																																																				0.582	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698	
RXFP4	339403	broad.mit.edu	37	1	155912396	155912396	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:155912396A>T	ENST00000368318.3	+	1	917	c.896A>T	c.(895-897)cAc>cTc	p.H299L		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGCTTGGCACACAGCAATAGC	0.567																																					p.H299L												.	.	0			c.A896T	1						.						98.0	89.0	92.0					1																	155912396		2203	4300	6503	154179020	SO:0001583	missense	339403	exon1			AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.896A>T	1.37:g.155912396A>T	ENSP00000357301:p.His299Leu		154179020	NM_181885	B0M0L4|Q3MJB1|Q8NGZ8	Missense_Mutation	SNP	ENST00000368318.3	37	CCDS1124.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086018	0.76642	.	.	ENSG00000173080	ENST00000368318	T	0.70516	-0.49	4.8	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.146661	0.45606	D	0.000345	T	0.70298	0.3208	L	0.45581	1.43	0.42057	D	0.991147	D	0.76494	0.999	D	0.77557	0.99	T	0.73623	-0.3924	10	0.66056	D	0.02	-18.5322	8.9007	0.35493	0.9081:0.0:0.0919:0.0	.	299	Q8TDU9	RL3R2_HUMAN	L	299	ENSP00000357301:H299L	ENSP00000357301:H299L	H	+	2	0	RXFP4	154179020	0.985000	0.35326	0.991000	0.47740	0.990000	0.78478	4.850000	0.62889	2.014000	0.59158	0.533000	0.62120	CAC		0.567	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885	
SMG5	23381	broad.mit.edu	37	1	156222239	156222239	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:156222239G>A	ENST00000361813.5	-	19	2863	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	907	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.R907W(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCCAGGTACCGAATCCCATCC	0.522																																					p.R907W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2719T	1						.						71.0	73.0	72.0					1																	156222239		2203	4300	6503	154488863	SO:0001583	missense	23381	exon19			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2719C>T	1.37:g.156222239G>A	ENSP00000355261:p.Arg907Trp		154488863	NM_015327	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	CCDS1137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.587081|4.587081	0.86851|0.86851	.|.	.|.	ENSG00000198952|ENSG00000198952	ENST00000361813|ENST00000420555	T|.	0.43688|.	0.94|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Nucleotide binding protein, PINc (1);|.	0.058878|.	0.64402|.	D|.	0.000002|.	T|T	0.72358|0.72358	0.3450|0.3450	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.71616|0.71616	-0.4539|-0.4539	10|5	0.87932|.	D|.	0|.	-17.4323|-17.4323	17.6142|17.6142	0.88064|0.88064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	907|.	Q9UPR3|.	SMG5_HUMAN|.	W|L	907|28	ENSP00000355261:R907W|.	ENSP00000355261:R907W|.	R|S	-|-	1|2	2|0	SMG5|SMG5	154488863|154488863	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.599000|0.599000	0.36880|0.36880	8.839000|8.839000	0.92120|0.92120	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	CGG|TCG		0.522	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327	
SMG5	23381	broad.mit.edu	37	1	156248777	156248777	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:156248777T>A	ENST00000361813.5	-	2	267	c.123A>T	c.(121-123)aaA>aaT	p.K41N	SMG5_ENST00000368267.5_Missense_Mutation_p.K41N	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	41					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GATAAGCAGTTTTGTTGCAAA	0.453																																					p.K41N												.	.	0			c.A123T	1						.						201.0	182.0	189.0					1																	156248777		2203	4300	6503	154515401	SO:0001583	missense	23381	exon2			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.123A>T	1.37:g.156248777T>A	ENSP00000355261:p.Lys41Asn		154515401	NM_015327	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842055	0.51057	.	.	ENSG00000198952	ENST00000361813;ENST00000368267	T;T	0.17370	2.28;2.28	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	L	0.51422	1.61	0.46241	D	0.998946	P	0.44260	0.83	B	0.42188	0.379	T	0.10154	-1.0642	10	0.38643	T	0.18	-14.5542	7.104	0.25353	0.0:0.1599:0.0:0.8401	.	41	Q9UPR3	SMG5_HUMAN	N	41	ENSP00000355261:K41N;ENSP00000357250:K41N	ENSP00000355261:K41N	K	-	3	2	SMG5	154515401	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	1.780000	0.38634	2.130000	0.65690	0.482000	0.46254	AAA		0.453	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327	
RRNAD1	51093	broad.mit.edu	37	1	156706426	156706426	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:156706426T>A	ENST00000368216.4	+	8	1939	c.1309T>A	c.(1309-1311)Ttc>Atc	p.F437I	RRNAD1_ENST00000476229.1_Missense_Mutation_p.F152Y|MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000481920.1_Intron|RRNAD1_ENST00000368218.4_Missense_Mutation_p.F275Y	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	437						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.F437I(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCTCCCAGGTTTCCATGCTGA	0.542																																					p.F437I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1309A	1						.						131.0	122.0	125.0					1																	156706426		2203	4300	6503	154973050	SO:0001583	missense	51093	exon8			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1309T>A	1.37:g.156706426T>A	ENSP00000357199:p.Phe437Ile		154973050	NM_015997	D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.932|9.932	1.215154|1.215154	0.22373|0.22373	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000368216|ENST00000368218;ENST00000476229	T|.	0.42131|.	0.98|.	5.87|5.87	4.73|4.73	0.59995|0.59995	.|.	0.299604|0.299604	0.37483|0.37483	N|N	0.002066|0.002066	T|T	0.11495|0.11495	0.0280|0.0280	N|N	0.11870|0.11870	0.19|0.19	0.19575|0.19575	N|N	0.999963|0.999963	B|B	0.11235|0.21147	0.004|0.052	B|B	0.08055|0.22152	0.003|0.038	T|T	0.14811|0.14811	-1.0459|-1.0459	10|9	0.12103|0.87932	T|D	0.63|0	-19.5395|-19.5395	10.101|10.101	0.42504|0.42504	0.1495:0.0:0.0:0.8505|0.1495:0.0:0.0:0.8505	.|.	437|275	Q96FB5|Q4VX71	RRNAD_HUMAN|.	I|Y	437|275;152	ENSP00000357199:F437I|.	ENSP00000357199:F437I|ENSP00000357201:F275Y	F|F	+|+	1|2	0|0	RRNAD1|RRNAD1	154973050|154973050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.139000|0.139000	0.21198|0.21198	2.263000|2.263000	0.43293|0.43293	1.029000|1.029000	0.39812|0.39812	-0.333000|-0.333000	0.08304|0.08304	TTC|TTT		0.542	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997	
CTRC	11330	broad.mit.edu	37	1	15769941	15769941	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:15769941A>G	ENST00000375949.4	+	5	410	c.384A>G	c.(382-384)gcA>gcG	p.A128A	CTRC_ENST00000375943.2_Missense_Mutation_p.Q65R|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	128	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.A128A(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAAGCTTGCAGAGCATGTGG	0.617																																					p.A128A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A384G	1						.						216.0	203.0	208.0					1																	15769941		2203	4300	6503	15642528	SO:0001819	synonymous_variant	11330	exon5			BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.384A>G	1.37:g.15769941A>G			15642528	NM_007272	A8K082|O00765|Q9NUH5	Silent	SNP	ENST00000375949.4	37	CCDS156.1	.	.	.	.	.	.	.	.	.	.	.	9.650	1.141384	0.21205	.	.	ENSG00000162438	ENST00000375943	.	.	.	4.91	-9.82	0.00484	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45804	-0.9236	5	0.87932	D	0	-32.7331	3.0191	0.06070	0.243:0.0776:0.4247:0.2548	.	.	.	.	R	65	.	ENSP00000365110:Q65R	Q	+	2	0	CTRC	15642528	0.000000	0.05858	0.169000	0.22859	0.692000	0.40212	-3.828000	0.00356	-1.742000	0.01342	-0.396000	0.06452	CAG		0.617	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272	
CD5L	922	broad.mit.edu	37	1	157803103	157803103	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:157803103G>A	ENST00000368174.4	-	5	1014	c.918C>T	c.(916-918)ggC>ggT	p.G306G	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	306	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.G306G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCAGATGCGGCCAACCCCAG	0.587																																					p.G306G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C918T	1						.						102.0	103.0	102.0					1																	157803103		2203	4300	6503	156069727	SO:0001819	synonymous_variant	922	exon5			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.918C>T	1.37:g.157803103G>A			156069727	NM_005894	A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	CCDS1171.1																																																																																				0.587	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
OR10X1	128367	broad.mit.edu	37	1	158549179	158549179	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:158549179T>C	ENST00000368150.1	-	1	510	c.511A>G	c.(511-513)Atc>Gtc	p.I171V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I171V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTAAGAGAGATAAAGAAGCCT	0.473																																					p.I171V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A511G	1						.						51.0	53.0	53.0					1																	158549179		2203	4300	6503	156815803	SO:0001583	missense	128367	exon1			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.511A>G	1.37:g.158549179T>C	ENSP00000357132:p.Ile171Val		156815803	NM_001004477	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.629895	0.00115	.	.	ENSG00000186400	ENST00000368150	T	0.37915	1.17	5.0	-3.32	0.04973	GPCR, rhodopsin-like superfamily (1);	0.132596	0.34200	N	0.004175	T	0.04048	0.0113	N	0.05467	-0.045	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.41770	-0.9490	10	0.02654	T	1	.	13.109	0.59263	0.0:0.5588:0.0:0.4412	.	171	Q8NGY0	O10X1_HUMAN	V	171	ENSP00000357132:I171V	ENSP00000357132:I171V	I	-	1	0	OR10X1	156815803	0.000000	0.05858	0.020000	0.16555	0.101000	0.19017	-3.001000	0.00652	-0.506000	0.06558	-0.410000	0.06199	ATC		0.473	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477	
OR10X1	128367	broad.mit.edu	37	1	158549611	158549611	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:158549611C>T	ENST00000368150.1	-	1	78	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E27K(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAATGAATTCCTTCAGGATT	0.363																																					p.E27K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G79A	1						.						121.0	118.0	119.0					1																	158549611		2203	4300	6503	156816235	SO:0001583	missense	128367	exon1			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.79G>A	1.37:g.158549611C>T	ENSP00000357132:p.Glu27Lys		156816235	NM_001004477	Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915897	0.52546	.	.	ENSG00000186400	ENST00000368150	T	0.01119	5.31	5.13	5.13	0.70059	.	0.000000	0.49916	D	0.000122	T	0.03053	0.0090	M	0.79011	2.435	0.28492	N	0.914425	D	0.71674	0.998	D	0.77004	0.989	T	0.10753	-1.0616	10	0.66056	D	0.02	.	11.5801	0.50887	0.0:0.9146:0.0:0.0854	.	27	Q8NGY0	O10X1_HUMAN	K	27	ENSP00000357132:E27K	ENSP00000357132:E27K	E	-	1	0	OR10X1	156816235	0.012000	0.17670	0.982000	0.44146	0.193000	0.23685	1.145000	0.31577	2.648000	0.89879	0.650000	0.86243	GAA		0.363	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477	
OR10Z1	128368	broad.mit.edu	37	1	158576934	158576934	+	Missense_Mutation	SNP	A	A	G	rs145428042	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:158576934A>G	ENST00000361284.1	+	1	706	c.706A>G	c.(706-708)Aag>Gag	p.K236E		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236E(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGGGCAGAAGAAGGCCTTCTC	0.512													A|||	6	0.00119808	0.0045	0.0	5008	,	,		20991	0.0		0.0	False		,,,				2504	0.0				p.K236E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A706G	1						.	A	GLU/LYS	9,4397	14.3+/-33.2	0,9,2194	173.0	173.0	173.0		706	5.2	1.0	1	dbSNP_134	173	0,8600		0,0,4300	yes	missense	OR10Z1	NM_001004478.1	56	0,9,6494	GG,GA,AA		0.0,0.2043,0.0692	probably-damaging	236/314	158576934	9,12997	2203	4300	6503	156843558	SO:0001583	missense	128368	exon1			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.706A>G	1.37:g.158576934A>G	ENSP00000354707:p.Lys236Glu		156843558	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	A	25.4	4.629283	0.87560	0.002043	0.0	ENSG00000198967	ENST00000361284	T	0.00364	7.81	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000590	T	0.01320	0.0043	H	0.99312	4.51	0.44555	D	0.997518	D	0.89917	1.0	D	0.91635	0.999	T	0.01004	-1.1484	10	0.87932	D	0	.	14.274	0.66167	1.0:0.0:0.0:0.0	.	236	Q8NGY1	O10Z1_HUMAN	E	236	ENSP00000354707:K236E	ENSP00000354707:K236E	K	+	1	0	OR10Z1	156843558	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	7.260000	0.78391	2.197000	0.70478	0.528000	0.53228	AAG		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
SPTA1	6708	broad.mit.edu	37	1	158612686	158612686	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:158612686T>C	ENST00000368147.4	-	32	4703	c.4523A>G	c.(4522-4524)gAc>gGc	p.D1508G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1508					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.D1508G(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCCTCAAGGTCTCGGTAGAA	0.473																																					p.D1508G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4523G	1						.						172.0	162.0	165.0					1																	158612686		2001	4170	6171	156879310	SO:0001583	missense	6708	exon32			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4523A>G	1.37:g.158612686T>C	ENSP00000357129:p.Asp1508Gly		156879310	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.133616	0.56828	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55930	0.49;0.49	5.2	5.2	0.72013	.	0.242716	0.21173	N	0.078942	T	0.70448	0.3225	M	0.87097	2.86	0.43994	D	0.996694	D	0.89917	1.0	D	0.97110	1.0	T	0.75986	-0.3124	10	0.62326	D	0.03	.	14.0466	0.64708	0.0:0.0:0.0:1.0	.	1508	P02549	SPTA1_HUMAN	G	1508	ENSP00000357130:D1508G;ENSP00000357129:D1508G	ENSP00000357129:D1508G	D	-	2	0	SPTA1	156879310	1.000000	0.71417	0.042000	0.18584	0.187000	0.23431	7.330000	0.79181	2.189000	0.69895	0.533000	0.62120	GAC		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
OR6K2	81448	broad.mit.edu	37	1	158669554	158669554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:158669554C>A	ENST00000359610.2	-	1	932	c.889G>T	c.(889-891)Gaa>Taa	p.E297*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E297*(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TCTTTTATTTCTTTATTCCTC	0.383																																					p.E297X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.G889T	1						.						69.0	69.0	69.0					1																	158669554		2203	4300	6503	156936178	SO:0001587	stop_gained	81448	exon1			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.889G>T	1.37:g.158669554C>A	ENSP00000352626:p.Glu297*		156936178	NM_001005279	B9EH33|Q6IFR6	Nonsense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975294	0.92919	.	.	ENSG00000196171	ENST00000359610	.	.	.	4.81	4.81	0.61882	.	0.000000	0.42053	D	0.000770	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-5.6209	16.8028	0.85618	0.0:1.0:0.0:0.0	.	.	.	.	X	297	.	ENSP00000352626:E297X	E	-	1	0	OR6K2	156936178	0.994000	0.37717	1.000000	0.80357	0.940000	0.58332	3.559000	0.53756	2.468000	0.83385	0.561000	0.74099	GAA		0.383	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
OR6N2	81442	broad.mit.edu	37	1	158746781	158746781	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:158746781C>A	ENST00000339258.1	-	1	644	c.645G>T	c.(643-645)atG>atT	p.M215I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M215I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CATAAGAAATCATGATAAAGA	0.428																																					p.M215I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G645T	1						.						57.0	57.0	57.0					1																	158746781		2203	4300	6503	157013405	SO:0001583	missense	81442	exon1			BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.645G>T	1.37:g.158746781C>A	ENSP00000344101:p.Met215Ile		157013405	NM_001005278	Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	0.192	-1.052783	0.01965	.	.	ENSG00000188340	ENST00000339258	T	0.00036	8.86	5.07	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000274	T	0.00039	0.0001	N	0.01679	-0.765	0.28477	N	0.915137	B	0.06786	0.001	B	0.06405	0.002	T	0.04053	-1.0981	10	0.37606	T	0.19	-15.7153	12.492	0.55905	0.0:0.9178:0.0:0.0822	.	215	Q8NGY6	OR6N2_HUMAN	I	215	ENSP00000344101:M215I	ENSP00000344101:M215I	M	-	3	0	OR6N2	157013405	0.000000	0.05858	0.422000	0.26621	0.067000	0.16453	-0.636000	0.05465	1.367000	0.46095	0.650000	0.86243	ATG		0.428	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1		
CADM3	57863	broad.mit.edu	37	1	159163760	159163760	+	Silent	SNP	C	C	T	rs371655700		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:159163760C>T	ENST00000368125.4	+	5	778	c.621C>T	c.(619-621)atC>atT	p.I207I	CADM3_ENST00000368124.4_Silent_p.I241I|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	207	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I241I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GGGCGAGCATCGTGTGCTCTG	0.502																																					p.I241I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C723T	1						.	C	,	0,4406		0,0,2203	129.0	115.0	120.0		621,723	-1.3	0.1	1		120	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CADM3	NM_001127173.1,NM_021189.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	207/399,241/433	159163760	1,13005	2203	4300	6503	157430384	SO:0001819	synonymous_variant	57863	exon6			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.621C>T	1.37:g.159163760C>T			157430384	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	CCDS44251.1																																																																																				0.502	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
CADM3	57863	broad.mit.edu	37	1	159166799	159166799	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:159166799G>T	ENST00000368125.4	+	7	1058	c.901G>T	c.(901-903)Gcc>Tcc	p.A301S	CADM3_ENST00000368124.4_Missense_Mutation_p.A335S|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	301	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.A335S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CGGCTGCACAGCCACCAGCAA	0.542																																					p.A335S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1003T	1						.						122.0	103.0	110.0					1																	159166799		2203	4300	6503	157433423	SO:0001583	missense	57863	exon8			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.901G>T	1.37:g.159166799G>T	ENSP00000357107:p.Ala301Ser		157433423	NM_021189	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	ENST00000368125.4	37	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876368	0.91664	.	.	ENSG00000162706	ENST00000368124;ENST00000368125	T;T	0.23147	1.92;1.92	5.07	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.988;1.0;0.996	T	0.77259	-0.2654	10	0.87932	D	0	.	15.9804	0.80105	0.0:0.0:1.0:0.0	.	255;301;335	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	S	335;301	ENSP00000357106:A335S;ENSP00000357107:A301S	ENSP00000357106:A335S	A	+	1	0	CADM3	157433423	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	8.045000	0.89436	2.629000	0.89072	0.591000	0.81541	GCC		0.542	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189	
OR10J3	441911	broad.mit.edu	37	1	159283505	159283505	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:159283505C>A	ENST00000332217.5	-	1	944	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K315N(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CACAACCTCTCTTCATTAAGG	0.413																																					p.K315N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G945T	1						.						62.0	63.0	63.0					1																	159283505		2203	4300	6503	157550129	SO:0001583	missense	441911	exon1				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.945G>T	1.37:g.159283505C>A	ENSP00000331789:p.Lys315Asn		157550129	NM_001004467		Missense_Mutation	SNP	ENST00000332217.5	37	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.414000	0.25465	.	.	ENSG00000196266	ENST00000332217	T	0.00543	6.68	4.92	-4.22	0.03800	.	.	.	.	.	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18461	-1.0336	9	0.17832	T	0.49	.	1.0502	0.01578	0.4376:0.1611:0.1107:0.2906	.	315	Q5JRS4	O10J3_HUMAN	N	315	ENSP00000331789:K315N	ENSP00000331789:K315N	K	-	3	2	OR10J3	157550129	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.005000	0.03674	-0.376000	0.07943	-0.140000	0.14226	AAG		0.413	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1		
OR10J1	26476	broad.mit.edu	37	1	159409723	159409723	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:159409723A>G	ENST00000423932.3	+	1	212	c.175A>G	c.(175-177)Atc>Gtc	p.I59V	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	59					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I215V(1)|p.I59V(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CATTGTGACCATCATCCGAAT	0.438																																					p.I59V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A175G	1						.						201.0	183.0	189.0					1																	159409723		2203	4300	6503	157676347	SO:0001583	missense	26476	exon1			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.175A>G	1.37:g.159409723A>G	ENSP00000399078:p.Ile59Val		157676347	NM_012351	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.578945	0.00129	.	.	ENSG00000196184	ENST00000423932	T	0.02916	4.11	4.48	2.13	0.27403	GPCR, rhodopsin-like superfamily (1);	0.170971	0.27572	N	0.018761	T	0.00356	0.0011	N	0.03304	-0.355	0.22819	N	0.998692	B	0.16603	0.018	B	0.19148	0.024	T	0.40905	-0.9538	10	0.07175	T	0.84	.	6.3417	0.21327	0.7044:0.0:0.2956:0.0	.	59	P30954	O10J1_HUMAN	V	59	ENSP00000399078:I59V	ENSP00000399078:I59V	I	+	1	0	OR10J1	157676347	0.000000	0.05858	0.850000	0.33497	0.053000	0.15095	0.358000	0.20216	0.319000	0.23209	0.533000	0.62120	ATC		0.438	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351	
OR10J1	26476	broad.mit.edu	37	1	159409946	159409946	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:159409946G>A	ENST00000423932.3	+	1	435	c.398G>A	c.(397-399)cGc>cAc	p.R133H	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	133					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R289H(1)|p.R133H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GGATATGACCGCTATGTGGCC	0.498																																					p.R133H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G398A	1						.						115.0	104.0	108.0					1																	159409946		2203	4300	6503	157676570	SO:0001583	missense	26476	exon1			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.398G>A	1.37:g.159409946G>A	ENSP00000399078:p.Arg133His		157676570	NM_012351	Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584786	0.28268	.	.	ENSG00000196184	ENST00000423932	T	0.77489	-1.1	4.49	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000850	T	0.65964	0.2742	M	0.88181	2.935	0.28026	N	0.934332	B	0.22346	0.068	B	0.24701	0.055	T	0.64837	-0.6313	10	0.72032	D	0.01	.	7.6562	0.28377	0.294:0.0:0.706:0.0	.	133	P30954	O10J1_HUMAN	H	133	ENSP00000399078:R133H	ENSP00000399078:R133H	R	+	2	0	OR10J1	157676570	0.044000	0.20184	0.003000	0.11579	0.467000	0.32768	2.073000	0.41519	0.220000	0.20860	-0.136000	0.14681	CGC		0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351	
OR10J5	127385	broad.mit.edu	37	1	159505015	159505015	+	Silent	SNP	C	C	T	rs368999566		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:159505015C>T	ENST00000334857.2	-	1	827	c.783G>A	c.(781-783)ccG>ccA	p.P261P		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P261P(2)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTTCTGACTTCGGCTTGAGGT	0.502																																					p.P261P												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G783A	1						.	C		0,4406		0,0,2203	84.0	82.0	83.0		783	2.1	1.0	1		83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR10J5	NM_001004469.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		261/310	159505015	1,13005	2203	4300	6503	157771639	SO:0001819	synonymous_variant	127385	exon1				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.783G>A	1.37:g.159505015C>T			157771639	NM_001004469	B9EH35|Q6IFH2	Silent	SNP	ENST00000334857.2	37	CCDS30910.1																																																																																				0.502	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469	
SLAMF8	56833	broad.mit.edu	37	1	159796694	159796694	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:159796694C>A	ENST00000289707.5	+	1	155	c.6C>A	c.(4-6)gtC>gtA	p.V2V	SLAMF8_ENST00000368104.4_Silent_p.V2V	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	2					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.V2V(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GAAAGATGGTCATGAGGCCCC	0.602																																					p.V2V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6A	1						.						91.0	89.0	89.0					1																	159796694		2203	4300	6503	158063318	SO:0001819	synonymous_variant	56833	exon1			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.6C>A	1.37:g.159796694C>A			158063318	NM_020125	Q32MC6|Q5VU15	Silent	SNP	ENST00000289707.5	37	CCDS1188.1																																																																																				0.602	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125	
IGSF8	93185	broad.mit.edu	37	1	160063674	160063674	+	Missense_Mutation	SNP	G	G	A	rs200326761		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160063674G>A	ENST00000368086.1	-	3	946	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	IGSF8_ENST00000314485.7_Missense_Mutation_p.R244C|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	244	Ig-like C2-type 2.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R244C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTGCCCAGACGAAGCTCCCCT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17768	0.0		0.0	False		,,,				2504	0.001				p.R244C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730T	1						.						70.0	62.0	65.0					1																	160063674		2203	4300	6503	158330298	SO:0001583	missense	93185	exon3			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.730C>T	1.37:g.160063674G>A	ENSP00000357065:p.Arg244Cys		158330298	NM_052868	Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490149	0.44249	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.22945	1.93;1.93;1.93	3.74	2.83	0.33086	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.392170	0.20335	N	0.094357	T	0.14917	0.0360	M	0.62723	1.935	0.46222	D	0.99893	D	0.62365	0.991	B	0.44315	0.446	T	0.02498	-1.1150	10	0.52906	T	0.07	-2.4173	7.6905	0.28565	0.2118:0.0:0.7882:0.0	.	244	Q969P0	IGSF8_HUMAN	C	244	ENSP00000316664:R244C;ENSP00000357065:R244C;ENSP00000397464:R244C	ENSP00000316664:R244C	R	-	1	0	IGSF8	158330298	0.706000	0.27856	0.917000	0.36280	0.705000	0.40729	1.063000	0.30567	0.925000	0.37094	0.491000	0.48974	CGT		0.627	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868	
ATP1A2	477	broad.mit.edu	37	1	160100265	160100265	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160100265G>A	ENST00000361216.3	+	13	1794	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	ATP1A2_ENST00000392233.3_Missense_Mutation_p.D569N	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	569					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.D569N(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCAAATTCGACACGGATGA	0.537																																					p.D569N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1705A	1						.						79.0	78.0	78.0					1																	160100265		2203	4300	6503	158366889	SO:0001583	missense	477	exon13			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1705G>A	1.37:g.160100265G>A	ENSP00000354490:p.Asp569Asn		158366889	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289817	0.59976	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	T;T	0.72835	-0.69;-0.69	4.6	4.6	0.57074	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	N	0.11364	0.135	0.80722	D	1	B;B;B	0.20368	0.022;0.044;0.022	B;B;B	0.19946	0.027;0.026;0.027	T	0.29274	-1.0017	10	0.28530	T	0.3	.	16.5445	0.84426	0.0:0.0:1.0:0.0	.	569;469;569	B1AKY9;F5GXJ7;P50993	.;.;AT1A2_HUMAN	N	569;569;272	ENSP00000354490:D569N;ENSP00000376066:D569N	ENSP00000354490:D569N	D	+	1	0	ATP1A2	158366889	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	9.852000	0.99516	2.279000	0.76181	0.505000	0.49811	GAC		0.537	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A2	477	broad.mit.edu	37	1	160105028	160105028	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160105028C>A	ENST00000361216.3	+	15	2147	c.2058C>A	c.(2056-2058)gtC>gtA	p.V686V	ATP1A2_ENST00000392233.3_Silent_p.V686V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	686					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.V686V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGAGATCGTCTTTGCTCGAA	0.587																																					p.V686V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2058A	1						.						158.0	118.0	131.0					1																	160105028		2203	4300	6503	158371652	SO:0001819	synonymous_variant	477	exon15			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2058C>A	1.37:g.160105028C>A			158371652	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	7.962	0.747134	0.15710	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.55	-1.19	0.09585	.	.	.	.	.	T	0.63189	0.2490	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69049	-0.5248	4	.	.	.	.	20.1444	0.98072	0.0:0.3017:0.6983:0.0	.	.	.	.	Y	397	.	.	S	+	2	0	ATP1A2	158371652	0.258000	0.24033	0.864000	0.33941	0.751000	0.42716	-0.823000	0.04443	-0.307000	0.08804	0.511000	0.50034	TCT		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A2	477	broad.mit.edu	37	1	160106412	160106412	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160106412G>A	ENST00000361216.3	+	19	2705	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	ATP1A2_ENST00000392233.3_Silent_p.E872E	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	872					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.E872E(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTGGCAGAGAACGGTTTCC	0.582																																					p.E872E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2616A	1						.						114.0	100.0	105.0					1																	160106412		2203	4300	6503	158373036	SO:0001819	synonymous_variant	477	exon19			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2616G>A	1.37:g.160106412G>A			158373036	NM_000702	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240488	0.39598	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	T	0.64011	0.2560	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62613	-0.6817	4	.	.	.	.	15.5314	0.75964	0.0:0.0:1.0:0.0	.	.	.	.	K	566	.	.	R	+	2	0	ATP1A2	158373036	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.586000	0.46119	2.590000	0.87494	0.561000	0.74099	AGA		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
ATP1A4	480	broad.mit.edu	37	1	160124942	160124942	+	Silent	SNP	C	C	T	rs140019547	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160124942C>T	ENST00000368081.4	+	3	786	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	105					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.F105F(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAACTGTTCGGAGGCTTCT	0.512													C|||	26	0.00519169	0.0197	0.0	5008	,	,		16652	0.0		0.0	False		,,,				2504	0.0				p.F105F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	1						.	C		79,4327	69.8+/-107.6	0,79,2124	88.0	86.0	87.0		315	-9.0	0.0	1	dbSNP_134	87	0,8600		0,0,4300	no	coding-synonymous	ATP1A4	NM_144699.3		0,79,6424	TT,TC,CC		0.0,1.793,0.6074		105/1030	160124942	79,12927	2203	4300	6503	158391566	SO:0001819	synonymous_variant	480	exon3			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.315C>T	1.37:g.160124942C>T			158391566	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																				0.512	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
ATP1A4	480	broad.mit.edu	37	1	160144033	160144033	+	Silent	SNP	C	C	T	rs200588619		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160144033C>T	ENST00000368081.4	+	14	2595	c.2124C>T	c.(2122-2124)gtC>gtT	p.V708V	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	708					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.V708V(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCATCATTGTCGAGGGATGTC	0.532																																					p.V708V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2124T	1						.						100.0	89.0	93.0					1																	160144033		2203	4300	6503	158410657	SO:0001819	synonymous_variant	480	exon14			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2124C>T	1.37:g.160144033C>T			158410657	NM_144699	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	CCDS1197.1																																																																																				0.532	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
RSC1A1	6248	broad.mit.edu	37	1	15987421	15987421	+	Missense_Mutation	SNP	C	C	T	rs201454259	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:15987421C>T	ENST00000345034.1	+	1	1058	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	353					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)	p.T353M(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTCTATAACGGCAGCCTTG	0.423													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20715	0.0		0.001	False		,,,				2504	0.0				p.T353M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1058T	1						.	C	MET/THR,	0,4406		0,0,2203	51.0	49.0	50.0		1058,	5.8	0.3	1	dbSNP_134	50	4,8596	3.7+/-12.6	0,4,4296	yes	missense,utr-3	RSC1A1,DDI2	NM_006511.1,NM_032341.4	81,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,	353/618,	15987421	4,13002	2203	4300	6503	15860008	SO:0001583	missense	6248	exon1			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1058C>T	1.37:g.15987421C>T	ENSP00000341963:p.Thr353Met		15860008	NM_006511	B2RBP5	Missense_Mutation	SNP	ENST00000345034.1	37	CCDS161.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722439	0.68959	0.0	4.65E-4	ENSG00000215695	ENST00000345034	T	0.34472	1.36	5.83	5.83	0.93111	.	0.079008	0.48767	D	0.000179	T	0.51856	0.1699	L	0.32530	0.975	0.40019	D	0.97538	D	0.89917	1.0	D	0.81914	0.995	T	0.52624	-0.8551	10	0.72032	D	0.01	-6.0387	18.7155	0.91673	0.0:1.0:0.0:0.0	.	353	Q92681	RSCA1_HUMAN	M	353	ENSP00000341963:T353M	ENSP00000341963:T353M	T	+	2	0	RSC1A1	15860008	1.000000	0.71417	0.257000	0.24404	0.545000	0.35147	5.761000	0.68801	2.763000	0.94921	0.563000	0.77884	ACG		0.423	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511	
NCSTN	23385	broad.mit.edu	37	1	160319950	160319950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160319950G>A	ENST00000294785.5	+	5	617	c.492G>A	c.(490-492)tgG>tgA	p.W164*	NCSTN_ENST00000392212.4_Nonsense_Mutation_p.W144*|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000368063.1_Nonsense_Mutation_p.W144*|NCSTN_ENST00000368065.4_5'UTR|NCSTN_ENST00000535857.1_Nonsense_Mutation_p.W164*	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	164					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.W164*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAATACAGTGGAATTCGCTGG	0.453																																					p.W164X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G492A	1						.						268.0	275.0	272.0					1																	160319950		2203	4300	6503	158586574	SO:0001587	stop_gained	23385	exon5			AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.492G>A	1.37:g.160319950G>A	ENSP00000294785:p.Trp164*		158586574	NM_015331	Q5T207|Q5T208|Q86VV5	Nonsense_Mutation	SNP	ENST00000294785.5	37	CCDS1203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.042878|6.042878	0.97231|0.97231	.|.	.|.	ENSG00000162736|ENSG00000162736	ENST00000424645|ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	.|.	.|.	.|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.25158|.	0.0611|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16335|.	-1.0406|.	4|.	.|0.02654	.|T	.|1	-9.8493|-9.8493	14.8645|14.8645	0.70404|0.70404	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	22|164;144;164;164;197;144	.|.	.|ENSP00000294785:W164X	G|W	+|+	2|3	0|0	NCSTN|NCSTN	158586574|158586574	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.939000|0.939000	0.58152|0.58152	8.573000|8.573000	0.90759|0.90759	2.525000|2.525000	0.85131|0.85131	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.453	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331	
VANGL2	57216	broad.mit.edu	37	1	160388956	160388956	+	Silent	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160388956T>A	ENST00000368061.2	+	4	831	c.357T>A	c.(355-357)tcT>tcA	p.S119S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	119					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.S119S(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACTGCTGTCTTTCCTCACGC	0.662																																					p.S119S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T357A	1						.						63.0	62.0	62.0					1																	160388956		2203	4300	6503	158655580	SO:0001819	synonymous_variant	57216	exon4			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.357T>A	1.37:g.160388956T>A			158655580	NM_020335	D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	CCDS30915.1																																																																																				0.662	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335	
SLAMF1	6504	broad.mit.edu	37	1	160607313	160607313	+	Missense_Mutation	SNP	C	C	T	rs142014204		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160607313C>T	ENST00000302035.6	-	2	432	c.83G>A	c.(82-84)cGc>cAc	p.R28H	SLAMF1_ENST00000355199.3_Missense_Mutation_p.R28H|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R28H|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R28H	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	28					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.R28H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTTCATCATGCGCCCACCTGT	0.498																																					p.R28H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G83A	1						.	C	HIS/ARG	0,4406		0,0,2203	53.0	46.0	48.0		83	-1.8	0.0	1	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLAMF1	NM_003037.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	28/336	160607313	1,13005	2203	4300	6503	158873937	SO:0001583	missense	6504	exon2			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.83G>A	1.37:g.160607313C>T	ENSP00000306190:p.Arg28His		158873937	NM_003037	Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	C	8.646	0.897091	0.17686	0.0	1.16E-4	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000392208;ENST00000538290;ENST00000355199	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	3.77	-1.83	0.07833	Signaling lymphocytic activation molecule, N-terminal (2);	1.959200	0.02054	N	0.050217	T	0.07999	0.0200	N	0.11427	0.14	0.09310	N	1	B;B	0.15473	0.013;0.001	B;B	0.14578	0.011;0.001	T	0.16247	-1.0409	10	0.41790	T	0.15	-11.3237	3.6468	0.08188	0.1744:0.3844:0.0:0.4412	.	28;28	B4E2E4;Q13291	.;SLAF1_HUMAN	H	28	ENSP00000306190:R28H;ENSP00000235739:R28H;ENSP00000438406:R28H;ENSP00000347333:R28H	ENSP00000235739:R28H	R	-	2	0	SLAMF1	158873937	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.253000	0.08794	-0.363000	0.08101	-0.327000	0.08410	CGC		0.498	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1		
SLAMF7	57823	broad.mit.edu	37	1	160721170	160721170	+	Missense_Mutation	SNP	C	C	T	rs34099422	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160721170C>T	ENST00000368043.3	+	5	842	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SLAMF7_ENST00000359331.4_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.R162W|SLAMF7_ENST00000458602.2_Missense_Mutation_p.R122W|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Missense_Mutation_p.R138W	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	269					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)	p.R269W(1)		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)			GGACATTTGTCGGGAAACTCC	0.473													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20857	0.0		0.0	False		,,,				2504	0.0				p.R269W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C805T	1						.	C	TRP/ARG	15,4391	22.3+/-47.3	0,15,2188	186.0	168.0	174.0		805	3.2	0.0	1	dbSNP_126	174	0,8600		0,0,4300	yes	missense	SLAMF7	NM_021181.3	101	0,15,6488	TT,TC,CC		0.0,0.3404,0.1153	possibly-damaging	269/336	160721170	15,12991	2203	4300	6503	158987794	SO:0001583	missense	57823	exon5			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.805C>T	1.37:g.160721170C>T	ENSP00000357022:p.Arg269Trp		158987794	NM_021181	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473934	0.43942	0.003404	0.0	ENSG00000026751	ENST00000441662;ENST00000368043;ENST00000368042;ENST00000458602	T;T;T;T	0.45668	1.75;0.89;0.89;2.17	4.15	3.23	0.37069	.	1.172660	0.06241	N	0.690486	T	0.20740	0.0499	N	0.08118	0	0.20638	N	0.99987	D;D;D;D;D	0.65815	0.978;0.989;0.995;0.978;0.992	B;B;P;B;P	0.53006	0.436;0.425;0.715;0.436;0.522	T	0.35748	-0.9776	10	0.72032	D	0.01	-0.5122	10.1952	0.43049	0.0:0.7987:0.2013:0.0	rs34099422	122;138;175;162;269	B4DWA3;B4DPU4;B4DW98;Q9NQ25-2;Q9NQ25	.;.;.;.;SLAF7_HUMAN	W	138;269;162;122	ENSP00000405605:R138W;ENSP00000357022:R269W;ENSP00000357021:R162W;ENSP00000409965:R122W	ENSP00000357021:R162W	R	+	1	2	SLAMF7	158987794	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	1.582000	0.36568	1.336000	0.45506	-0.156000	0.13503	CGG		0.473	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181	
LY9	4063	broad.mit.edu	37	1	160784472	160784472	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160784472C>T	ENST00000263285.6	+	4	1023	c.993C>T	c.(991-993)gaC>gaT	p.D331D	LY9_ENST00000341032.4_Silent_p.D331D|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Silent_p.D291D|LY9_ENST00000368037.5_Silent_p.D331D|LY9_ENST00000392203.4_Silent_p.D331D			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	331	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D331D(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGATAGAGGACGCCGGCCCCT	0.582																																					p.D331D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C993T	1						.						60.0	55.0	56.0					1																	160784472		2203	4300	6503	159051096	SO:0001819	synonymous_variant	4063	exon4			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.993C>T	1.37:g.160784472C>T			159051096	NM_002348	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	De_novo_Start_OutOfFrame	SNP	ENST00000263285.6	37	CCDS30916.1																																																																																				0.582	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348	
LY9	4063	broad.mit.edu	37	1	160788097	160788097	+	Nonsense_Mutation	SNP	C	C	T	rs145664274	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160788097C>T	ENST00000263285.6	+	6	1462	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*	LY9_ENST00000341032.4_Nonsense_Mutation_p.R388*|LY9_ENST00000368040.1_Nonsense_Mutation_p.R130*|LY9_ENST00000368041.2_Nonsense_Mutation_p.R348*|LY9_ENST00000368037.5_Nonsense_Mutation_p.R478*|LY9_ENST00000392203.4_Nonsense_Mutation_p.R388*			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	478					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R478*(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTTGGAAGCGAAAAGGACG	0.522													C|||	6	0.00119808	0.0045	0.0	5008	,	,		18726	0.0		0.0	False		,,,				2504	0.0				p.R478X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1432T	1						.	C	stop/ARG	32,4374	38.4+/-70.7	1,30,2172	266.0	248.0	254.0		1432	-3.5	0.0	1	dbSNP_134	254	0,8600		0,0,4300	yes	stop-gained	LY9	NM_002348.2		1,30,6472	TT,TC,CC		0.0,0.7263,0.246		478/656	160788097	32,12974	2203	4300	6503	159054721	SO:0001587	stop_gained	4063	exon6			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1432C>T	1.37:g.160788097C>T	ENSP00000263285:p.Arg478*		159054721	NM_002348	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Nonsense_Mutation	SNP	ENST00000263285.6	37	CCDS30916.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	20.7	4.030099	0.75504	0.007263	0.0	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	.	.	.	3.46	-3.46	0.04767	.	7739.210000	0.00496	N	0.000141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-0.0026	6.9817	0.24706	0.6907:0.2042:0.0:0.1052	.	.	.	.	X	478;388;130;478;348;438;290;130	.	ENSP00000263285:R478X	R	+	1	2	LY9	159054721	0.001000	0.12720	0.007000	0.13788	0.018000	0.09664	-1.312000	0.02720	-0.665000	0.05317	0.644000	0.83932	CGA		0.522	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348	
CD244	51744	broad.mit.edu	37	1	160811285	160811285	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:160811285G>T	ENST00000368033.3	-	3	467	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368032.2_Intron|CD244_ENST00000322302.7_Intron|CD244_ENST00000368034.4_Intron			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	129				ESLLPDK -> GMAMCPM (in Ref. 10; AAK50015). {ECO:0000305}.	blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.?(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGAAGCAGAGATTCTGAT	0.483																																					p.L129M												.	.	1	Unknown(1)	large_intestine(1)	c.C385A	1						.						45.0	50.0	48.0					1																	160811285		2203	4300	6503	159077909	SO:0001583	missense	51744	exon3			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.385C>A	1.37:g.160811285G>T	ENSP00000357012:p.Leu129Met		159077909	NM_001166663	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	ENST00000368033.3	37	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578423	0.45902	.	.	ENSG00000122223	ENST00000368033	T	0.38401	1.14	4.89	2.94	0.34122	.	0.000000	0.27451	U	0.019316	T	0.29190	0.0726	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.04320	-1.0960	9	.	.	.	-6.2484	8.3275	0.32167	0.1976:0.0:0.8024:0.0	.	129	Q9BZW8	CD244_HUMAN	M	129	ENSP00000357012:L129M	.	L	-	1	2	CD244	159077909	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.185000	0.32065	1.171000	0.42768	0.655000	0.94253	CTG		0.483	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382	
NR1I3	9970	broad.mit.edu	37	1	161203075	161203075	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:161203075G>A	ENST00000367982.4	-	4	447	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	NR1I3_ENST00000367980.2_Missense_Mutation_p.R98W|NR1I3_ENST00000367984.4_Missense_Mutation_p.R98W|NR1I3_ENST00000515452.1_Missense_Mutation_p.R98W|NR1I3_ENST00000412844.2_Missense_Mutation_p.R69W|NR1I3_ENST00000504010.1_Missense_Mutation_p.R69W|NR1I3_ENST00000428574.2_Missense_Mutation_p.R98W|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000512372.1_Missense_Mutation_p.R69W|NR1I3_ENST00000367985.3_Missense_Mutation_p.R98W|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000511676.1_Missense_Mutation_p.R69W|NR1I3_ENST00000506209.1_Missense_Mutation_p.R69W|NR1I3_ENST00000367983.4_Missense_Mutation_p.R98W|NR1I3_ENST00000437437.2_Missense_Mutation_p.R69W|NR1I3_ENST00000442691.2_Missense_Mutation_p.R98W|NR1I3_ENST00000508740.1_Missense_Mutation_p.R69W|NR1I3_ENST00000367981.3_Missense_Mutation_p.R69W|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000505005.1_Missense_Mutation_p.R98W|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000515621.1_Missense_Mutation_p.R23W|NR1I3_ENST00000367979.2_Missense_Mutation_p.R98W			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	98					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R98W(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCTGTGCCCGCCGCTGGGCC	0.587																																					p.R98W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C292T	1						.						90.0	92.0	92.0					1																	161203075		2203	4300	6503	159469699	SO:0001583	missense	9970	exon4			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.292C>T	1.37:g.161203075G>A	ENSP00000356961:p.Arg98Trp		159469699	NM_001077482	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222209	0.79464	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92699	-2.52;-3.03;-3.03;-2.75;-2.95;-2.76;-2.89;-2.81;-2.74;-3.09;-2.4;-2.91;-2.84;-3.09;-2.52;-2.66;-3.03;-2.73;-2.99	6.17	5.23	0.72850	Nuclear hormone receptor, ligand-binding (1);	0.700768	0.14740	N	0.301204	D	0.94545	0.8243	M	0.80847	2.515	0.39689	D	0.971017	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;0.994;1.0;1.0;1.0;0.997;0.999;1.0;0.998;1.0;1.0;0.998;0.998;0.999;0.999;0.999	D;P;P;P;P;D;D;P;P;D;P;P;D;P;P;P;P;P	0.76575	0.981;0.772;0.895;0.676;0.794;0.981;0.988;0.772;0.855;0.981;0.719;0.794;0.928;0.836;0.881;0.794;0.895;0.855	D	0.93991	0.7267	9	0.87932	D	0	.	8.303	0.32025	0.0776:0.0:0.7667:0.1557	.	98;69;69;98;98;98;98;98;98;98;23;69;69;69;69;69;69;98	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	W	69;98;98;69;98;69;98;98;69;98;69;69;69;23;98;98;98;69;98	ENSP00000425417:R69W;ENSP00000356962:R98W;ENSP00000356959:R98W;ENSP00000407446:R69W;ENSP00000406493:R98W;ENSP00000399361:R69W;ENSP00000412672:R98W;ENSP00000424934:R98W;ENSP00000423666:R69W;ENSP00000356961:R98W;ENSP00000424345:R69W;ENSP00000427175:R69W;ENSP00000356960:R69W;ENSP00000421588:R23W;ENSP00000356963:R98W;ENSP00000356965:R98W;ENSP00000356958:R98W;ENSP00000423089:R69W;ENSP00000427034:R98W	ENSP00000356958:R98W	R	-	1	2	NR1I3	159469699	0.990000	0.36364	1.000000	0.80357	0.650000	0.38633	1.606000	0.36826	2.941000	0.99782	0.655000	0.94253	CGG		0.587	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		
FCRLA	84824	broad.mit.edu	37	1	161683010	161683010	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:161683010C>A	ENST00000236938.6	+	5	1213	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	FCRLA_ENST00000350710.3_Missense_Mutation_p.S89Y|FCRLA_ENST00000546024.1_Missense_Mutation_p.S235Y|FCRLA_ENST00000367953.3_Missense_Mutation_p.S313Y|FCRLA_ENST00000294796.4_Missense_Mutation_p.S173Y|FCRLA_ENST00000540926.1_Missense_Mutation_p.S313Y|FCRLA_ENST00000367957.2_Missense_Mutation_p.S184Y|FCRLA_ENST00000540521.1_Missense_Mutation_p.S190Y|FCRLA_ENST00000349527.4_Missense_Mutation_p.S212Y|FCRLA_ENST00000309691.6_Missense_Mutation_p.S218Y|FCRLA_ENST00000367949.2_Missense_Mutation_p.S140Y|FCRLA_ENST00000367950.1_Missense_Mutation_p.S100Y|FCRLA_ENST00000367959.2_Missense_Mutation_p.S330Y|FCRLA_ENST00000470841.1_3'UTR	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	307					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S307Y(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CCAGGCTTTTCTTCTCCTCTG	0.577																																					p.S190Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C569A	1						.						66.0	67.0	67.0					1																	161683010		2203	4300	6503	159949634	SO:0001583	missense	84824	exon4			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.971C>A	1.37:g.161683010C>A	ENSP00000236938:p.Ser324Tyr		159949634	NM_001184870	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359670	0.61403	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000367949;ENST00000350710;ENST00000540926;ENST00000367957;ENST00000349527;ENST00000309691;ENST00000294796;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.04	0.691	0.18045	.	1.152020	0.06339	N	0.707569	T	0.32224	0.0822	L	0.48642	1.525	0.09310	N	1	P;P;D;P;D;P;B	0.59357	0.495;0.841;0.97;0.766;0.985;0.766;0.264	B;P;P;B;P;B;B	0.55749	0.329;0.468;0.783;0.174;0.612;0.325;0.074	T	0.15263	-1.0443	10	0.72032	D	0.01	.	1.4993	0.02473	0.181:0.475:0.1562:0.1878	.	89;140;190;184;235;330;324	F8W743;A6NL20;F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.;.;.	Y	324;330;235;190;140;89;313;184;212;218;173;313;100	ENSP00000236938:S324Y;ENSP00000356936:S330Y;ENSP00000439838:S235Y;ENSP00000442870:S190Y;ENSP00000356926:S140Y;ENSP00000344808:S89Y;ENSP00000446380:S313Y;ENSP00000356934:S184Y;ENSP00000294798:S212Y;ENSP00000309596:S218Y;ENSP00000294796:S173Y;ENSP00000356930:S313Y;ENSP00000356927:S100Y	ENSP00000236938:S324Y	S	+	2	0	FCRLA	159949634	0.000000	0.05858	0.000000	0.03702	0.604000	0.37047	0.065000	0.14466	0.305000	0.22832	0.655000	0.94253	TCT		0.577	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738	
ATF6	22926	broad.mit.edu	37	1	161761932	161761932	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:161761932A>C	ENST00000367942.3	+	6	570	c.503A>C	c.(502-504)aAg>aCg	p.K168T		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	168					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.K168T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CTGACTCCAAAGAAAAAAATT	0.398																																					p.K168T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A503C	1						.						92.0	100.0	97.0					1																	161761932		2203	4300	6503	160028556	SO:0001583	missense	22926	exon6			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.503A>C	1.37:g.161761932A>C	ENSP00000356919:p.Lys168Thr		160028556	NM_007348	O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.624905	0.66901	.	.	ENSG00000118217	ENST00000367942	T	0.18502	2.21	5.66	4.54	0.55810	.	0.162750	0.53938	D	0.000051	T	0.13500	0.0327	L	0.55481	1.735	0.33379	D	0.574607	D;D	0.71674	0.998;0.976	P;P	0.56088	0.791;0.622	T	0.09357	-1.0678	9	0.27082	T	0.32	-17.1	8.1179	0.30955	0.9099:0.0:0.0901:0.0	.	168;169	P18850;Q59H30	ATF6A_HUMAN;.	T	168	ENSP00000356919:K168T	ENSP00000356919:K168T	K	+	2	0	ATF6	160028556	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.947000	0.49058	0.986000	0.38683	0.533000	0.62120	AAG		0.398	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348	
ATF6	22926	broad.mit.edu	37	1	161771849	161771849	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:161771849G>A	ENST00000367942.3	+	7	763	c.696G>A	c.(694-696)acG>acA	p.T232T		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	232					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.T232T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CAGGCCAGACGGTTTTGCTGT	0.502																																					p.T232T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G696A	1						.						128.0	111.0	117.0					1																	161771849		2203	4300	6503	160038473	SO:0001819	synonymous_variant	22926	exon7			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.696G>A	1.37:g.161771849G>A			160038473	NM_007348	O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	CCDS1235.1																																																																																				0.502	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348	
OLFML2B	25903	broad.mit.edu	37	1	161970074	161970074	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:161970074C>T	ENST00000294794.3	-	5	1201	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	OLFML2B_ENST00000367940.2_Missense_Mutation_p.E261K	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	260					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.E260K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCAGAAGTTCGATGGAGTTG	0.617																																					p.E260K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G778A	1						.						62.0	56.0	58.0					1																	161970074		2203	4300	6503	160236698	SO:0001583	missense	25903	exon5			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.778G>A	1.37:g.161970074C>T	ENSP00000294794:p.Glu260Lys		160236698	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	C	2.225	-0.377552	0.05000	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86366	-2.11;-2.11	5.22	-0.272	0.12919	.	.	.	.	.	T	0.49643	0.1569	N	0.14661	0.345	0.32867	D	0.508712	B;B	0.12630	0.004;0.006	B;B	0.04013	0.001;0.001	T	0.03231	-1.1058	8	0.11182	T	0.66	.	5.645	0.17584	0.0:0.3264:0.4158:0.2579	.	261;260	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	K	260;261	ENSP00000294794:E260K;ENSP00000356917:E261K	ENSP00000294794:E260K	E	-	1	0	OLFML2B	160236698	0.250000	0.23951	0.808000	0.32385	0.251000	0.25915	0.512000	0.22755	-0.332000	0.08489	0.561000	0.74099	GAA		0.617	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
OLFML2B	25903	broad.mit.edu	37	1	161993153	161993153	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:161993153A>C	ENST00000294794.3	-	1	491	c.68T>G	c.(67-69)aTt>aGt	p.I23S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.I23S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	23					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.I23S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTGAGGACAATGCTGGACAC	0.597																																					p.I23S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T68G	1						.						87.0	80.0	82.0					1																	161993153		2203	4300	6503	160259777	SO:0001583	missense	25903	exon1			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.68T>G	1.37:g.161993153A>C	ENSP00000294794:p.Ile23Ser		160259777	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	ENST00000294794.3	37	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.648576	0.29336	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.86366	-2.11;-2.11	4.96	-0.495	0.12030	.	.	.	.	.	T	0.51346	0.1669	N	0.08118	0	0.24227	N	0.995417	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.15896	-1.0421	8	0.54805	T	0.06	.	3.8334	0.08883	0.3892:0.0:0.4486:0.1622	.	23;23	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	S	23	ENSP00000294794:I23S;ENSP00000356917:I23S	ENSP00000294794:I23S	I	-	2	0	OLFML2B	160259777	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.295000	0.08298	-0.270000	0.09285	-0.441000	0.05720	ATT		0.597	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
C1orf111	284680	broad.mit.edu	37	1	162344380	162344380	+	Missense_Mutation	SNP	C	C	T	rs371340536		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:162344380C>T	ENST00000367935.5	-	3	323	c.244G>A	c.(244-246)Gga>Aga	p.G82R	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	82								p.G82R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			AGCTTCTCTCCGTGCTGGGTA	0.572																																					p.G82R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G244A	1						.	C	ARG/GLY	0,4406		0,0,2203	72.0	72.0	72.0		244	1.6	0.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	missense	C1orf111	NM_182581.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	82/262	162344380	1,13005	2203	4300	6503	160611004	SO:0001583	missense	284680	exon3			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.244G>A	1.37:g.162344380C>T	ENSP00000356912:p.Gly82Arg		160611004	NM_182581	Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	37	CCDS1238.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392864	0.25118	0.0	1.16E-4	ENSG00000171722	ENST00000367935	T	0.35789	1.29	4.98	1.63	0.23807	.	0.568845	0.16691	N	0.203554	T	0.15392	0.0371	M	0.62723	1.935	0.30425	N	0.77772	B	0.21381	0.055	B	0.16722	0.016	T	0.06058	-1.0848	9	0.72032	D	0.01	-10.1211	5.2418	0.15475	0.0:0.5316:0.0:0.4684	.	82	Q5T0L3	CA111_HUMAN	R	82	ENSP00000356912:G82R	ENSP00000356912:G82R	G	-	1	0	C1orf111	160611004	0.006000	0.16342	0.047000	0.18901	0.048000	0.14542	1.461000	0.35255	0.503000	0.28060	0.655000	0.94253	GGA		0.572	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581	
SPEN	23013	broad.mit.edu	37	1	16242692	16242692	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:16242692G>T	ENST00000375759.3	+	6	1517	c.1313G>T	c.(1312-1314)aGa>aTa	p.R438I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	438	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R438I(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAGCAACAAGAACTCTCTTT	0.403																																					p.R438I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1313T	1						.						147.0	132.0	137.0					1																	16242692		2203	4300	6503	16115279	SO:0001583	missense	23013	exon6				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1313G>T	1.37:g.16242692G>T	ENSP00000364912:p.Arg438Ile		16115279	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.298027|5.298027	0.95574|0.95574	.|.	.|.	ENSG00000065526|ENSG00000065526	ENST00000442985|ENST00000375759	.|T	.|0.07567	.|3.18	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	.|.	.|.	.|.	.|.	.|T	.|0.42086	.|0.1187	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	.|T	.|0.51100	.|-0.8748	.|9	.|0.87932	.|D	.|0	-5.6884|-5.6884	20.2147|20.2147	0.98293|0.98293	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|438	.|Q96T58	.|MINT_HUMAN	X|I	178|438	.|ENSP00000364912:R438I	.|ENSP00000364912:R438I	E|R	+|+	1|2	0|0	SPEN|SPEN	16115279|16115279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.353000|9.353000	0.97080|0.97080	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.403	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	broad.mit.edu	37	1	16255105	16255105	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:16255105G>T	ENST00000375759.3	+	11	2574	c.2370G>T	c.(2368-2370)aaG>aaT	p.K790N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	790	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.K790N(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAATGAAAAGACAGATAAAG	0.453																																					p.K790N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2370T	1						.						76.0	81.0	79.0					1																	16255105		2203	4300	6503	16127692	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2370G>T	1.37:g.16255105G>T	ENSP00000364912:p.Lys790Asn		16127692	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516487	0.44763	.	.	ENSG00000065526	ENST00000375759	T	0.16324	2.35	4.74	4.74	0.60224	.	.	.	.	.	T	0.33962	0.0881	L	0.59436	1.845	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.02909	-1.1095	9	0.59425	D	0.04	-7.082	8.3955	0.32555	0.1784:0.0:0.8216:0.0	.	790	Q96T58	MINT_HUMAN	N	790	ENSP00000364912:K790N	ENSP00000364912:K790N	K	+	3	2	SPEN	16127692	0.888000	0.30383	1.000000	0.80357	0.931000	0.56810	1.382000	0.34374	2.455000	0.83008	0.563000	0.77884	AAG		0.453	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	broad.mit.edu	37	1	16256696	16256696	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:16256696G>A	ENST00000375759.3	+	11	4165	c.3961G>A	c.(3961-3963)Gca>Aca	p.A1321T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1321					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A1321T(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAACAGATGGCAGATATGGC	0.378																																					p.A1321T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3961A	1						.						54.0	59.0	57.0					1																	16256696		2203	4299	6502	16129283	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3961G>A	1.37:g.16256696G>A	ENSP00000364912:p.Ala1321Thr		16129283	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624243	0.28889	.	.	ENSG00000065526	ENST00000375759	T	0.09538	2.97	5.02	5.02	0.67125	.	.	.	.	.	T	0.10895	0.0266	L	0.27053	0.805	0.49299	D	0.999779	P	0.46987	0.888	B	0.42163	0.378	T	0.11542	-1.0583	9	0.36615	T	0.2	-16.6334	18.546	0.91047	0.0:0.0:1.0:0.0	.	1321	Q96T58	MINT_HUMAN	T	1321	ENSP00000364912:A1321T	ENSP00000364912:A1321T	A	+	1	0	SPEN	16129283	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.449000	0.44935	2.626000	0.88956	0.557000	0.71058	GCA		0.378	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
SPEN	23013	broad.mit.edu	37	1	16259754	16259754	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:16259754G>A	ENST00000375759.3	+	11	7223	c.7019G>A	c.(7018-7020)cGc>cAc	p.R2340H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2340	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R2340H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGATCACGCCGCAAGCGAAAC	0.512																																					p.R2340H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7019A	1						.						86.0	97.0	93.0					1																	16259754		2203	4300	6503	16132341	SO:0001583	missense	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7019G>A	1.37:g.16259754G>A	ENSP00000364912:p.Arg2340His		16132341	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645247	0.29246	.	.	ENSG00000065526	ENST00000375759	T	0.12255	2.7	4.84	4.84	0.62591	.	.	.	.	.	T	0.34687	0.0906	L	0.58101	1.795	0.43603	D	0.995968	D	0.71674	0.998	D	0.72075	0.976	T	0.05007	-1.0912	9	0.51188	T	0.08	-10.6068	17.9293	0.88992	0.0:0.0:1.0:0.0	.	2340	Q96T58	MINT_HUMAN	H	2340	ENSP00000364912:R2340H	ENSP00000364912:R2340H	R	+	2	0	SPEN	16132341	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	5.201000	0.65163	2.222000	0.72286	0.462000	0.41574	CGC		0.512	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
DDR2	4921	broad.mit.edu	37	1	162748503	162748503	+	Missense_Mutation	SNP	G	G	A	rs201041695		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:162748503G>A	ENST00000367922.3	+	18	2855	c.2417G>A	c.(2416-2418)cGa>cAa	p.R806Q	DDR2_ENST00000367921.3_Missense_Mutation_p.R806Q|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	806	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R806Q(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GAGTTCTTCCGAGACCAAGGG	0.488																																					p.R806Q	NSCLC(161;314 2006 8283 19651 23192)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2417A	1						.						106.0	102.0	103.0					1																	162748503		2203	4300	6503	161015127	SO:0001583	missense	4921	exon18			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2417G>A	1.37:g.162748503G>A	ENSP00000356899:p.Arg806Gln		161015127	NM_001014796	Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117156	0.94385	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.82619	-1.63;-1.63	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	N	0.16567	0.415	0.39426	D	0.966999	D	0.89917	1.0	D	0.80764	0.994	T	0.78804	-0.2060	9	0.24483	T	0.36	.	17.9405	0.89025	0.0:0.0:1.0:0.0	.	806	Q16832	DDR2_HUMAN	Q	806	ENSP00000356899:R806Q;ENSP00000356898:R806Q	ENSP00000356898:R806Q	R	+	2	0	DDR2	161015127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.726000	0.98782	2.571000	0.86741	0.655000	0.94253	CGA		0.488	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
NUF2	83540	broad.mit.edu	37	1	163310211	163310211	+	Missense_Mutation	SNP	C	C	T	rs536480913		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:163310211C>T	ENST00000271452.3	+	9	943	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	NUF2_ENST00000524800.1_Missense_Mutation_p.R222C|NUF2_ENST00000367900.3_Missense_Mutation_p.R222C	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	222	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.R222C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAAAACCAAGCGTTTGGTAAA	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17191	0.0		0.0	False		,,,				2504	0.0				p.R222C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C664T	1						.						107.0	115.0	113.0					1																	163310211		2203	4299	6502	161576835	SO:0001583	missense	83540	exon9			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.664C>T	1.37:g.163310211C>T	ENSP00000271452:p.Arg222Cys		161576835	NM_031423	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710578	0.48517	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.35236	1.32;1.34;1.34	5.07	3.21	0.36854	.	0.393159	0.28527	N	0.015023	T	0.09598	0.0236	N	0.19112	0.55	0.31290	N	0.6896100000000001	D;D	0.56968	0.978;0.978	B;B	0.39660	0.306;0.226	T	0.07693	-1.0759	9	0.72032	D	0.01	0.1048	7.4618	0.27300	0.0:0.8079:0.0:0.1921	.	222;222	E9PQC4;Q9BZD4	.;NUF2_HUMAN	C	222	ENSP00000436888:R222C;ENSP00000356875:R222C;ENSP00000271452:R222C	ENSP00000271452:R222C	R	+	1	0	NUF2	161576835	0.995000	0.38212	0.961000	0.40146	0.954000	0.61252	0.325000	0.19628	0.733000	0.32492	0.655000	0.94253	CGT		0.328	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
NUF2	83540	broad.mit.edu	37	1	163313614	163313614	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:163313614A>G	ENST00000271452.3	+	10	1040	c.761A>G	c.(760-762)tAt>tGt	p.Y254C	NUF2_ENST00000524800.1_Missense_Mutation_p.Y254C|NUF2_ENST00000367900.3_Missense_Mutation_p.Y254C	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	254	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.Y254C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTAAAGAATTATAAAGAAAAA	0.279																																					p.Y254C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A761G	1						.						25.0	30.0	28.0					1																	163313614		2144	4252	6396	161580238	SO:0001583	missense	83540	exon10			BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.761A>G	1.37:g.163313614A>G	ENSP00000271452:p.Tyr254Cys		161580238	NM_031423	Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224312	0.58668	.	.	ENSG00000143228	ENST00000524800;ENST00000367900;ENST00000271452	T;T;T	0.31247	1.5;1.52;1.52	4.84	2.45	0.29901	.	0.404697	0.28653	N	0.014583	T	0.17023	0.0409	L	0.47716	1.5	0.36400	D	0.863095	D;D	0.63880	0.993;0.993	P;P	0.53185	0.72;0.72	T	0.07328	-1.0778	9	0.46703	T	0.11	-5.1136	3.0202	0.06073	0.6291:0.0:0.1907:0.1802	.	254;254	E9PQC4;Q9BZD4	.;NUF2_HUMAN	C	254	ENSP00000436888:Y254C;ENSP00000356875:Y254C;ENSP00000271452:Y254C	ENSP00000271452:Y254C	Y	+	2	0	NUF2	161580238	0.871000	0.30034	0.998000	0.56505	0.959000	0.62525	1.285000	0.33261	0.408000	0.25621	0.482000	0.46254	TAT		0.279	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	
CDK11A	728642	broad.mit.edu	37	1	1654194	1654194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:1654194G>A	ENST00000378633.1	-	2	143	c.64C>T	c.(64-66)Cga>Tga	p.R22*	CDK11A_ENST00000356200.3_De_novo_Start_OutOfFrame|CDK11A_ENST00000378638.2_De_novo_Start_InFrame|RP1-283E3.4_ENST00000417099.1_RNA|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Nonsense_Mutation_p.R22*|CDK11A_ENST00000404249.3_Nonsense_Mutation_p.R22*|CDK11A_ENST00000357760.2_Nonsense_Mutation_p.R22*|CDK11A_ENST00000378635.3_Nonsense_Mutation_p.R22*			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	22	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R22*(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TCCTTCCTTCGTTTCTTTTCC	0.308																																					p.R22X	Pancreas(186;965 2119 30274 40311 50569)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C64T	1						.						29.0	31.0	30.0					1																	1654194		1645	3896	5541	1644054	SO:0001587	stop_gained	984	exon2			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.64C>T	1.37:g.1654194G>A	ENSP00000367900:p.Arg22*		1644054	NM_033486	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Nonsense_Mutation	SNP	ENST00000378633.1	37		.	.	.	.	.	.	.	.	.	.	g	21.5	4.153609	0.78114	.	.	ENSG00000008128	ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378635;ENST00000479362;ENST00000401096	.	.	.	3.54	2.61	0.31194	.	0.187093	0.34411	N	0.003990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6547	0.39919	0.0:0.0:0.6229:0.3771	.	.	.	.	X	22	.	ENSP00000350403:R22X	R	-	1	2	CDK11A	1644054	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	4.112000	0.57845	0.689000	0.31550	0.531000	0.56144	CGA		0.308	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011	
FBXO42	54455	broad.mit.edu	37	1	16582282	16582282	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:16582282G>A	ENST00000375592.3	-	6	907	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	231								p.P231S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CCAGCCATGGGAGGTGGCCCA	0.438																																					p.P231S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C691T	1						.						58.0	56.0	57.0					1																	16582282		2203	4300	6503	16454869	SO:0001583	missense	54455	exon6			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.691C>T	1.37:g.16582282G>A	ENSP00000364742:p.Pro231Ser		16454869	NM_018994	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424499	0.96111	.	.	ENSG00000037637	ENST00000375592	T	0.19105	2.17	5.53	5.53	0.82687	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.60012	1.86	0.80722	D	1	D	0.52996	0.957	P	0.56563	0.801	T	0.02885	-1.1098	10	0.42905	T	0.14	-14.8196	18.4585	0.90729	0.0:0.0:1.0:0.0	.	231	Q6P3S6	FBX42_HUMAN	S	231	ENSP00000364742:P231S	ENSP00000364742:P231S	P	-	1	0	FBXO42	16454869	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.127000	0.94417	2.600000	0.87896	0.561000	0.74099	CCC		0.438	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1		
RXRG	6258	broad.mit.edu	37	1	165378919	165378919	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:165378919C>A	ENST00000359842.5	-	7	1224	c.922G>T	c.(922-924)Gaa>Taa	p.E308*	RXRG_ENST00000470566.1_5'Flank	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	308	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E308*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	ATCAGCAATTCATTCCACCCT	0.488																																					p.E308X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G922T	1						.						109.0	90.0	97.0					1																	165378919		2203	4300	6503	163645543	SO:0001587	stop_gained	6258	exon7			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.922G>T	1.37:g.165378919C>A	ENSP00000352900:p.Glu308*		163645543	NM_006917	A6NIP1|Q6IBU7	Nonsense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	40	8.006946	0.98607	.	.	ENSG00000143171	ENST00000359842	.	.	.	5.02	4.11	0.48088	.	0.098854	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.423	0.55529	0.0:0.9182:0.0:0.0818	.	.	.	.	X	308	.	ENSP00000352900:E308X	E	-	1	0	RXRG	163645543	1.000000	0.71417	0.636000	0.29352	0.996000	0.88848	7.400000	0.79949	1.322000	0.45245	0.655000	0.94253	GAA		0.488	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917	
TADA1	117143	broad.mit.edu	37	1	166826894	166826894	+	Silent	SNP	C	C	T	rs150904302	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:166826894C>T	ENST00000367874.4	-	8	1011	c.918G>A	c.(916-918)acG>acA	p.T306T	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	306					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.T306T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						GCCAGAGTTTCGTGATGATCC	0.443													C|||	4	0.000798722	0.003	0.0	5008	,	,		17706	0.0		0.0	False		,,,				2504	0.0				p.T306T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G918A	1						.	C		25,4381	31.7+/-61.6	0,25,2178	137.0	137.0	137.0		918	3.6	1.0	1	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TADA1	NM_053053.3		0,26,6477	TT,TC,CC		0.0116,0.5674,0.1999		306/336	166826894	26,12980	2203	4300	6503	165093518	SO:0001819	synonymous_variant	117143	exon8			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.918G>A	1.37:g.166826894C>T			165093518	NM_053053	A8K4J9	Silent	SNP	ENST00000367874.4	37	CCDS1255.1																																																																																				0.443	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053	
MAEL	84944	broad.mit.edu	37	1	166990396	166990396	+	Splice_Site	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:166990396T>C	ENST00000367872.4	+	11	1360	c.1116T>C	c.(1114-1116)atT>atC	p.I372I	MAEL_ENST00000367870.2_Splice_Site_p.I341I|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	372					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.I372I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACACACCCATTGGTAAGCAAC	0.368																																					p.I372I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1116C	1						.						74.0	76.0	75.0					1																	166990396		2203	4299	6502	165257020	SO:0001630	splice_region_variant	84944	exon11			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1117+1T>C	1.37:g.166990396T>C			165257020	NM_032858	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	CCDS1257.1																																																																																				0.368	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858	Silent
DCAF6	55827	broad.mit.edu	37	1	167960550	167960550	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:167960550C>T	ENST00000312263.6	+	6	865	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	DCAF6_ENST00000367840.3_Missense_Mutation_p.R221W|DCAF6_ENST00000432587.2_Missense_Mutation_p.R190W|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.R221W	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	221					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.R221W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATATATGATCGGCGAATGCT	0.398																																					p.R190W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C568T	1						.						108.0	95.0	99.0					1																	167960550		2203	4300	6503	166227174	SO:0001583	missense	55827	exon5			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.661C>T	1.37:g.167960550C>T	ENSP00000311949:p.Arg221Trp		166227174	NM_001198957	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772006	0.90108	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.109892	0.64402	D	0.000010	D	0.88362	0.6416	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;P;D;P	0.85130	0.993;0.891;0.997;0.857	D	0.88944	0.3382	10	0.72032	D	0.01	.	16.3945	0.83586	0.1322:0.8678:0.0:0.0	.	190;221;221;221	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	W	221;190;221;221	ENSP00000356817:R221W;ENSP00000396238:R190W;ENSP00000311949:R221W;ENSP00000356814:R221W	ENSP00000311949:R221W	R	+	1	2	DCAF6	166227174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.253000	0.43205	2.774000	0.95407	0.484000	0.47621	CGG		0.398	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
NME7	29922	broad.mit.edu	37	1	169267888	169267888	+	Missense_Mutation	SNP	C	C	T	rs139755731		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:169267888C>T	ENST00000367811.3	-	6	810	c.554G>A	c.(553-555)cGc>cAc	p.R185H	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.R149H	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	185					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.R185H(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGCATCTGTGCGTGCCACTCC	0.453																																					p.R149H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G446A	1						.	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	100.0	100.0		554,446	5.7	1.0	1	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense	NME7	NM_013330.3,NM_197972.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	185/377,149/341	169267888	1,13005	2203	4300	6503	167534512	SO:0001583	missense	29922	exon6			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.554G>A	1.37:g.169267888C>T	ENSP00000356785:p.Arg185His		167534512	NM_197972	A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808780	0.70797	2.27E-4	0.0	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.77620	-1.11;-1.11	5.74	5.74	0.90152	.	0.223452	0.47093	D	0.000257	T	0.74520	0.3727	M	0.79614	2.46	0.38312	D	0.943270	B;P	0.35124	0.407;0.485	B;B	0.36186	0.219;0.149	T	0.75614	-0.3257	9	0.40728	T	0.16	-7.388	19.5303	0.95226	0.0:1.0:0.0:0.0	.	189;185	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	H	149;185	ENSP00000433341:R149H;ENSP00000356785:R185H	ENSP00000356785:R185H	R	-	2	0	NME7	167534512	0.012000	0.17670	0.989000	0.46669	0.998000	0.95712	1.247000	0.32815	2.703000	0.92315	0.643000	0.83706	CGC		0.453	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330	
F5	2153	broad.mit.edu	37	1	169487738	169487738	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:169487738G>A	ENST00000367797.3	-	23	6458	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L	F5_ENST00000367796.3_Missense_Mutation_p.S2091L	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2086	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.S2086L(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTTCTTAAACGAAGAAGCTGT	0.448																																					p.S2086L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6257T	1						.						167.0	162.0	164.0					1																	169487738		2203	4300	6503	167754362	SO:0001583	missense	2153	exon23			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6257C>T	1.37:g.169487738G>A	ENSP00000356771:p.Ser2086Leu		167754362	NM_000130	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111278	0.77210	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99060	-5.38;-5.38	5.63	4.72	0.59763	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.96748	3.875	0.43439	D	0.995618	D	0.89917	1.0	D	0.79784	0.993	D	0.98496	1.0612	9	0.87932	D	0	-11.9235	12.5542	0.56244	0.0775:0.0:0.9225:0.0	.	2086	P12259	FA5_HUMAN	L	2086;2091	ENSP00000356771:S2086L;ENSP00000356770:S2091L	ENSP00000356770:S2091L	S	-	2	0	F5	167754362	1.000000	0.71417	0.248000	0.24265	0.799000	0.45148	6.152000	0.71812	1.396000	0.46663	-0.236000	0.12185	TCG		0.448	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
SELP	6403	broad.mit.edu	37	1	169562908	169562908	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:169562908G>T	ENST00000263686.6	-	14	2379	c.2342C>A	c.(2341-2343)tCt>tAt	p.S781Y	SELP_ENST00000367792.2_Missense_Mutation_p.S597Y|SELP_ENST00000458599.2_Missense_Mutation_p.S597Y|SELP_ENST00000367786.2_Missense_Mutation_p.S719Y|SELP_ENST00000367793.2_Missense_Mutation_p.S719Y|SELP_ENST00000367794.2_Missense_Mutation_p.S719Y|SELP_ENST00000367788.2_Missense_Mutation_p.S719Y|SELP_ENST00000367791.2_Missense_Mutation_p.S595Y	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	781					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.S781Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	ACCTATCGTAGAAGCCACCGC	0.438																																					p.S781Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2342A	1						.						72.0	69.0	70.0					1																	169562908		2203	4300	6503	167829532	SO:0001583	missense	6403	exon14			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2342C>A	1.37:g.169562908G>T	ENSP00000263686:p.Ser781Tyr		167829532	NM_003005	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.99|11.99	1.802280|1.802280	0.31869|0.31869	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.26810	.|2.2;2.03;1.75;1.71;1.91;2.03;1.75	5.62|5.62	3.62|3.62	0.41486|0.41486	.|.	.|0.517985	.|0.18071	.|N	.|0.152616	T|T	0.23410|0.23410	0.0566|0.0566	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|D;D	.|0.56035	.|0.974;0.974	.|P;P	.|0.53861	.|0.646;0.736	T|T	0.02352|0.02352	-1.1172|-1.1172	5|10	.|0.54805	.|T	.|0.06	-17.0207|-17.0207	11.9293|11.9293	0.52837|0.52837	0.0:0.3382:0.6618:0.0|0.0:0.3382:0.6618:0.0	.|.	.|780;781	.|Q6NUL9;P16109	.|.;LYAM3_HUMAN	L|Y	596|595;781;780;597;781;719;719;597;595;719;719;704	.|ENSP00000263686:S781Y;ENSP00000356767:S719Y;ENSP00000356768:S719Y;ENSP00000356766:S597Y;ENSP00000356765:S595Y;ENSP00000356762:S719Y;ENSP00000356760:S719Y	.|ENSP00000263686:S781Y	F|S	-|-	3|2	2|0	SELP|SELP	167829532|167829532	0.798000|0.798000	0.28890|0.28890	0.568000|0.568000	0.28447|0.28447	0.030000|0.030000	0.12068|0.12068	1.515000|1.515000	0.35845|0.35845	1.355000|1.355000	0.45865|0.45865	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.438	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
SELP	6403	broad.mit.edu	37	1	169580734	169580734	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:169580734A>G	ENST00000263686.6	-	7	1180	c.1143T>C	c.(1141-1143)tgT>tgC	p.C381C	SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367793.2_Silent_p.C319C|SELP_ENST00000367794.2_Intron|SELP_ENST00000367788.2_Silent_p.C319C|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	381	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.C381C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCCTACCCTCACAGGTTGGCA	0.532																																					p.C381C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1143C	1						.						70.0	69.0	69.0					1																	169580734		2203	4300	6503	167847358	SO:0001819	synonymous_variant	6403	exon7			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1143T>C	1.37:g.169580734A>G			167847358	NM_003005	Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	CCDS1282.1																																																																																				0.532	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005	
C1orf112	55732	broad.mit.edu	37	1	169773235	169773235	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:169773235C>A	ENST00000286031.6	+	6	1032	c.332C>A	c.(331-333)tCt>tAt	p.S111Y	C1orf112_ENST00000413811.2_Missense_Mutation_p.S82Y|C1orf112_ENST00000498289.1_Intron|C1orf112_ENST00000456684.1_Missense_Mutation_p.S169Y|C1orf112_ENST00000359326.4_Missense_Mutation_p.S111Y	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	111								p.S111Y(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTGTGTATTCTGGGTGTTTA	0.363																																					p.S111Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C332A	1						.						118.0	112.0	114.0					1																	169773235		2203	4300	6503	168039859	SO:0001583	missense	55732	exon6			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.332C>A	1.37:g.169773235C>A	ENSP00000286031:p.Ser111Tyr		168039859	NM_018186	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	De_novo_Start_OutOfFrame	SNP	ENST00000286031.6	37	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144749	0.37825	.	.	ENSG00000000460	ENST00000413811;ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.67698	0.71;-0.28;0.71	5.41	3.48	0.39840	.	0.246602	0.48767	D	0.000169	T	0.70430	0.3223	M	0.72118	2.19	0.37849	D	0.929312	D;D;D;D	0.76494	0.993;0.999;0.995;0.993	P;D;D;P	0.68621	0.884;0.959;0.934;0.884	T	0.74512	-0.3641	10	0.66056	D	0.02	-11.2257	9.2934	0.37800	0.0:0.5873:0.3315:0.0812	.	82;53;111;169	B4E0A9;B4DGF2;Q9NSG2;B4DRP7	.;.;CA112_HUMAN;.	Y	82;111;169;111	ENSP00000352276:S111Y;ENSP00000415583:S169Y;ENSP00000286031:S111Y	ENSP00000286031:S111Y	S	+	2	0	C1orf112	168039859	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	2.716000	0.47219	1.286000	0.44565	-0.218000	0.12543	TCT		0.363	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186	
SCYL3	57147	broad.mit.edu	37	1	169823675	169823675	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:169823675G>A	ENST00000367770.1	-	12	1952	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	SCYL3_ENST00000367772.4_Silent_p.I635I|SCYL3_ENST00000367771.6_Silent_p.I581I			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	635	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.I581I(1)|p.I635I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGGCGGCTCGATTTGGTCTG	0.443																																					p.I635I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1905T	1						.						107.0	111.0	110.0					1																	169823675		2203	4300	6503	168090299	SO:0001819	synonymous_variant	57147	exon13			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1905C>T	1.37:g.169823675G>A			168090299	NM_181093	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	ENST00000367770.1	37	CCDS1287.1																																																																																				0.443	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	
MROH9	80133	broad.mit.edu	37	1	170916671	170916671	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:170916671G>A	ENST00000367758.3	+	3	128	c.29G>A	c.(28-30)aGt>aAt	p.S10N	MROH9_ENST00000367759.4_Missense_Mutation_p.S10N	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	10								p.S10N(1)									TGGCTAGAGAGTAGTCTCCAG	0.383																																					p.S10N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G29A	1						.						141.0	129.0	133.0					1																	170916671		1868	4109	5977	169183295	SO:0001583	missense	80133	exon3			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.29G>A	1.37:g.170916671G>A	ENSP00000356732:p.Ser10Asn		169183295	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	8.546	0.874474	0.17395	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.17691	3.91;2.26	2.82	-3.32	0.04973	.	3.192640	0.02365	N	0.077284	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	P;P	0.36535	0.557;0.557	B;B	0.33750	0.169;0.169	T	0.32025	-0.9922	10	0.59425	D	0.04	0.0083	9.4028	0.38442	0.1123:0.6735:0.2142:0.0	.	10;10	F5GWX6;Q5TGP6	.;CA129_HUMAN	N	10	ENSP00000356733:S10N;ENSP00000356732:S10N	ENSP00000356732:S10N	S	+	2	0	C1orf129	169183295	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.417000	0.02464	-0.777000	0.04572	-0.985000	0.02557	AGT		0.383	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
MROH9	80133	broad.mit.edu	37	1	170967331	170967331	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:170967331G>T	ENST00000367758.3	+	15	1611	c.1512G>T	c.(1510-1512)gaG>gaT	p.E504D	MROH9_ENST00000367759.4_Missense_Mutation_p.E504D	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	504								p.E504D(1)									AGTTTCCGGAGACCCTGAGTT	0.393																																					p.E504D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1512T	1						.						111.0	100.0	103.0					1																	170967331		1827	4068	5895	169233955	SO:0001583	missense	80133	exon15			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1512G>T	1.37:g.170967331G>T	ENSP00000356732:p.Glu504Asp		169233955	NM_025063	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.59|13.59	2.281756|2.281756	0.40394|0.40394	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000426136|ENST00000367759;ENST00000367758	.|T;T	.|0.15718	.|4.05;2.4	4.99|4.99	0.768|0.768	0.18487|0.18487	.|.	.|0.101554	.|0.43416	.|D	.|0.000572	T|T	0.13500|0.13500	0.0327|0.0327	L|L	0.60455|0.60455	1.87|1.87	0.28136|0.28136	N|N	0.930007|0.930007	.|D;D	.|0.69078	.|0.993;0.997	.|P;D	.|0.66196	.|0.879;0.942	T|T	0.05767|0.05767	-1.0865|-1.0865	5|10	.|0.37606	.|T	.|0.19	-19.1412|-19.1412	4.003|4.003	0.09588|0.09588	0.327:0.1748:0.4982:0.0|0.327:0.1748:0.4982:0.0	.|.	.|504;504	.|F5GWX6;Q5TGP6	.|.;CA129_HUMAN	Y|D	111|504	.|ENSP00000356733:E504D;ENSP00000356732:E504D	.|ENSP00000356732:E504D	D|E	+|+	1|3	0|2	C1orf129|C1orf129	169233955|169233955	1.000000|1.000000	0.71417|0.71417	0.863000|0.863000	0.33907|0.33907	0.147000|0.147000	0.21601|0.21601	0.841000|0.841000	0.27613|0.27613	-0.043000|-0.043000	0.13513|0.13513	0.447000|0.447000	0.29281|0.29281	GAC|GAG		0.393	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	
FMO3	2328	broad.mit.edu	37	1	171076900	171076900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:171076900G>T	ENST00000367755.4	+	4	517	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	FMO3_ENST00000542847.1_Nonsense_Mutation_p.E116*|FMO3_ENST00000538429.1_Nonsense_Mutation_p.E73*|FMO3_ENST00000392085.2_Nonsense_Mutation_p.E136*	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	136					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.E136*(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGTAAAAAAGAATCGGCTGT	0.408																																					p.E136X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G406T	1						.						139.0	140.0	140.0					1																	171076900		2203	4300	6503	169343524	SO:0001587	stop_gained	2328	exon4			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.406G>T	1.37:g.171076900G>T	ENSP00000356729:p.Glu136*		169343524	NM_001002294	B2R816|Q14854|Q8N5N5	Nonsense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769600	0.31320	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	.	.	.	4.84	2.9	0.33743	.	0.106857	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-16.701	9.1731	0.37096	0.0817:0.1487:0.7696:0.0	.	.	.	.	X	136;136;116;73	.	ENSP00000356729:E136X	E	+	1	0	FMO3	169343524	0.218000	0.23608	0.011000	0.14972	0.015000	0.08874	1.488000	0.35551	0.965000	0.38133	0.591000	0.81541	GAA		0.408	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
FMO3	2328	broad.mit.edu	37	1	171083190	171083190	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:171083190A>C	ENST00000367755.4	+	7	982	c.871A>C	c.(871-873)Agc>Cgc	p.S291R	FMO3_ENST00000542847.1_Missense_Mutation_p.S271R|FMO3_ENST00000538429.1_Missense_Mutation_p.S228R|FMO3_ENST00000392085.2_Missense_Mutation_p.S291R	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	291					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.S291R(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCTCCCAGCAAGCATTCTGTG	0.433																																					p.S291R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A871C	1						.						106.0	95.0	99.0					1																	171083190		2203	4300	6503	169349814	SO:0001583	missense	2328	exon7			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.871A>C	1.37:g.171083190A>C	ENSP00000356729:p.Ser291Arg		169349814	NM_001002294	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	a	0.003	-2.448781	0.00175	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.73	-7.3	0.01446	.	0.364338	0.35235	N	0.003341	T	0.01222	0.0040	N	0.00050	-2.405	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.40232	-0.9574	10	0.02654	T	1	0.7642	3.7379	0.08518	0.0894:0.2647:0.1578:0.4881	.	228;271;291	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	R	291;291;271;228	ENSP00000356729:S291R;ENSP00000375935:S291R;ENSP00000444073:S271R;ENSP00000439500:S228R	ENSP00000356729:S291R	S	+	1	0	FMO3	169349814	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.185000	0.01252	-1.299000	0.02344	-2.230000	0.00291	AGC		0.433	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
FMO3	2328	broad.mit.edu	37	1	171086513	171086513	+	Missense_Mutation	SNP	C	C	A	rs28363595	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:171086513C>A	ENST00000367755.4	+	9	1641	c.1530C>A	c.(1528-1530)ttC>ttA	p.F510L	FMO3_ENST00000542847.1_Missense_Mutation_p.F490L|FMO3_ENST00000538429.1_Missense_Mutation_p.F447L|FMO3_ENST00000392085.2_Missense_Mutation_p.F510L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	510					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.F510L(2)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGCCTTGCTTCTTTTTCCATT	0.468																																					p.F510L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1530A	1						.						162.0	149.0	154.0					1																	171086513		2203	4300	6503	169353137	SO:0001583	missense	2328	exon9			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1530C>A	1.37:g.171086513C>A	ENSP00000356729:p.Phe510Leu		169353137	NM_001002294	B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	C	4.809	0.150351	0.09185	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	4.55	-9.11	0.00711	.	1.099820	0.07088	N	0.838315	T	0.04227	0.0117	N	0.01188	-0.97	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.31336	-0.9947	10	0.11182	T	0.66	0.2722	12.843	0.57813	0.3976:0.4944:0.108:0.0	.	447;490;510	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	L	510;510;490;447	ENSP00000356729:F510L;ENSP00000375935:F510L;ENSP00000444073:F490L;ENSP00000439500:F447L	ENSP00000356729:F510L	F	+	3	2	FMO3	169353137	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.627000	0.00874	-2.996000	0.00278	-1.113000	0.02065	TTC		0.468	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894	
FMO2	2327	broad.mit.edu	37	1	171177993	171177993	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:171177993C>T	ENST00000209929.7	+	9	1475	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Silent_p.L439L|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	437					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.L439L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGACGAGCTCGCCTTAGAGA	0.443																																					p.L439L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1317T	1						.						198.0	189.0	192.0					1																	171177993		2203	4300	6503	169444617	SO:0001819	synonymous_variant	2327	exon9			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1317C>T	1.37:g.171177993C>T			169444617	NM_001460	Q53XR0	Silent	SNP	ENST00000209929.7	37	CCDS1293.1																																																																																				0.443	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460	
FMO1	2326	broad.mit.edu	37	1	171250103	171250103	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:171250103A>G	ENST00000354841.4	+	5	937	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	FMO1_ENST00000367750.3_Missense_Mutation_p.Y269C|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.Y206C	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	269					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CATGCAAATTACGGCTTAATA	0.453																																					p.Y269C												.	.	0			c.A806G	1						.						89.0	86.0	87.0					1																	171250103		2203	4300	6503	169516727	SO:0001583	missense	2326	exon6			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.806A>G	1.37:g.171250103A>G	ENSP00000346901:p.Tyr269Cys		169516727	NM_002021	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072511	0.55646	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.61627	0.09;0.09;0.09	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.81174	-0.1053	10	0.66056	D	0.02	-1.3254	15.598	0.76602	1.0:0.0:0.0:0.0	.	206;269;269	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	C	269;206;269	ENSP00000356724:Y269C;ENSP00000385543:Y206C;ENSP00000346901:Y269C	ENSP00000346901:Y269C	Y	+	2	0	FMO1	169516727	1.000000	0.71417	0.978000	0.43139	0.058000	0.15608	8.305000	0.89960	2.315000	0.78130	0.533000	0.62120	TAC		0.453	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021	
PRRC2C	23215	broad.mit.edu	37	1	171510825	171510825	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:171510825G>A	ENST00000338920.4	+	16	4451	c.4214G>A	c.(4213-4215)cGa>cAa	p.R1405Q	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1405Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1407Q|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R1407Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1405	Arg-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R1407Q(1)									GCAGATAAACGACCTCCAAAA	0.483																																					p.R1405Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4214A	1						.						41.0	40.0	40.0					1																	171510825		2203	4300	6503	169777449	SO:0001583	missense	23215	exon16			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4214G>A	1.37:g.171510825G>A	ENSP00000343629:p.Arg1405Gln		169777449	NM_015172	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310348	0.40895	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02177	4.41;4.41;4.41;4.41	4.93	4.93	0.64822	.	0.000000	0.41001	D	0.000976	T	0.06690	0.0171	L	0.54323	1.7	0.48901	D	0.99972	D	0.89917	1.0	D	0.83275	0.996	T	0.31052	-0.9957	10	0.66056	D	0.02	.	18.5894	0.91204	0.0:0.0:1.0:0.0	.	1405	Q9Y520-4	.	Q	1407;1406;1405;1407;1405;1162	ENSP00000375928:R1407Q;ENSP00000410219:R1405Q;ENSP00000356716:R1407Q;ENSP00000343629:R1405Q	ENSP00000343629:R1405Q	R	+	2	0	PRRC2C	169777449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.206000	0.95056	2.436000	0.82500	0.650000	0.86243	CGA		0.483	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172	
VAMP4	8674	broad.mit.edu	37	1	171679880	171679880	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:171679880C>A	ENST00000236192.7	-	5	625	c.239G>T	c.(238-240)aGa>aTa	p.R80I	VAMP4_ENST00000367740.2_Missense_Mutation_p.R79I|VAMP4_ENST00000415773.1_Missense_Mutation_p.R79I|VAMP4_ENST00000482519.1_Intron	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	80	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)		p.R80I(1)		large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTCATCTAGTCTCTCCCCTCT	0.333																																					p.R79I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236T	1						.						238.0	227.0	231.0					1																	171679880		2202	4299	6501	169946503	SO:0001583	missense	8674	exon5			AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.239G>T	1.37:g.171679880C>A	ENSP00000236192:p.Arg80Ile		169946503	NM_001185127	A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	ENST00000236192.7	37	CCDS1298.1	.	.	.	.	.	.	.	.	.	.	C	32	5.170994	0.94807	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	T;T;T	0.50277	0.75;0.75;0.75	6.17	6.17	0.99709	Synaptobrevin (4);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.83603	2.65	0.80722	D	1	D;D	0.71674	0.989;0.998	D;D	0.66847	0.947;0.942	T	0.70687	-0.4803	10	0.87932	D	0	.	20.4745	0.99168	0.0:1.0:0.0:0.0	.	79;80	O75379-2;O75379	.;VAMP4_HUMAN	I	80;79;79	ENSP00000236192:R80I;ENSP00000415627:R79I;ENSP00000356714:R79I	ENSP00000236192:R80I	R	-	2	0	VAMP4	169946503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.775000	0.62346	2.941000	0.99782	0.655000	0.94253	AGA		0.333	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000304033.2	NM_003762	
VAMP4	8674	broad.mit.edu	37	1	171697709	171697709	+	Splice_Site	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:171697709C>A	ENST00000236192.7	-	3	454	c.68G>T	c.(67-69)aGa>aTa	p.R23I	VAMP4_ENST00000367740.2_Splice_Site_p.R23I|VAMP4_ENST00000415773.1_Splice_Site_p.R23I|VAMP4_ENST00000482519.1_5'UTR	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	23					Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)		p.R23I(1)		large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAAAAGATTTCTCTGTCAAAA	0.303																																					p.R23I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68T	1						.						24.0	23.0	23.0					1																	171697709		2179	4282	6461	169964332	SO:0001630	splice_region_variant	8674	exon3			AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"""Vesicle-associated membrane proteins"""	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.67-1G>T	1.37:g.171697709C>A			169964332	NM_001185127	A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	ENST00000236192.7	37	CCDS1298.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417696	0.83449	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	L	0.43152	1.355	0.80722	D	1	P;D	0.54772	0.892;0.968	B;P	0.44518	0.391;0.452	T	0.49643	-0.8918	9	0.54805	T	0.06	.	18.0718	0.89410	0.0:1.0:0.0:0.0	.	23;23	O75379-2;O75379	.;VAMP4_HUMAN	I	23	.	ENSP00000236192:R23I	R	-	2	0	VAMP4	169964332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.040000	0.64191	2.941000	0.99782	0.655000	0.94253	AGA		0.303	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000304033.2	NM_003762	Missense_Mutation
GNB1	2782	broad.mit.edu	37	1	1721936	1721936	+	Silent	SNP	G	G	A	rs538188811		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:1721936G>A	ENST00000378609.4	-	9	928	c.597C>T	c.(595-597)ttC>ttT	p.F199F		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	199					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.F199F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CACCAGAGACGAACAGTCTGG	0.557																																					p.F199F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C597T	1						.						138.0	104.0	115.0					1																	1721936		2203	4300	6503	1711796	SO:0001819	synonymous_variant	2782	exon9			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.597C>T	1.37:g.1721936G>A			1711796	NM_002074	B1AJZ7|P04697|P04901|Q1RMY8	Silent	SNP	ENST00000378609.4	37	CCDS34.1	.	.	.	.	.	.	.	.	.	.	G	9.625	1.134891	0.21123	.	.	ENSG00000078369	ENST00000424622	.	.	.	5.26	1.71	0.24356	.	.	.	.	.	T	0.55242	0.1908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46219	-0.9207	4	.	.	.	-2.9021	7.7565	0.28927	0.6791:0.0:0.3209:0.0	.	.	.	.	L	57	.	.	S	-	2	0	GNB1	1711796	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.146000	0.42216	0.328000	0.23435	-1.004000	0.02495	TCG		0.557	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074	
DNM3	26052	broad.mit.edu	37	1	172007484	172007484	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:172007484C>T	ENST00000355305.5	+	7	1032	c.875C>T	c.(874-876)aCc>aTc	p.T292I	DNM3_ENST00000358155.4_Missense_Mutation_p.T292I|DNM3_ENST00000367733.2_Missense_Mutation_p.T292I|DNM3_ENST00000367731.1_Missense_Mutation_p.T292I|DNM3_ENST00000520906.1_Missense_Mutation_p.T292I			Q9UQ16	DYN3_HUMAN	dynamin 3	292	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T292I(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATTCGGGATACCCTACCAAAC	0.373																																					p.T292I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C875T	1						.						130.0	117.0	121.0					1																	172007484		1844	4094	5938	170274107	SO:0001583	missense	26052	exon7			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.875C>T	1.37:g.172007484C>T	ENSP00000347457:p.Thr292Ile		170274107	NM_015569	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	C	29.1	4.975727	0.92982	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.77406	2.37	0.80722	D	1	B;P;B;B	0.35139	0.071;0.486;0.316;0.17	B;B;B;B	0.32289	0.05;0.143;0.143;0.126	T	0.70353	-0.4895	10	0.41790	T	0.15	.	19.4379	0.94804	0.0:1.0:0.0:0.0	.	292;292;292;292	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	I	292;292;292;292;292;292;182	ENSP00000350876:T292I;ENSP00000356707:T292I;ENSP00000347457:T292I;ENSP00000356705:T292I;ENSP00000429701:T292I;ENSP00000429416:T182I	ENSP00000347457:T292I	T	+	2	0	DNM3	170274107	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	ACC		0.373	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
TNFSF18	8995	broad.mit.edu	37	1	173010807	173010807	+	Silent	SNP	G	G	A	rs375329121		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:173010807G>A	ENST00000404377.3	-	3	300	c.300C>T	c.(298-300)tgC>tgT	p.C100C	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Silent_p.C78C	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	100					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.C78C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						CCTTATTCACGCAAGGAGGTT	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18316	0.0		0.0	False		,,,				2504	0.001				p.C100C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300T	1						.	G		0,4406		0,0,2203	136.0	144.0	141.0		300	-7.9	0.0	1		141	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	TNFSF18	NM_005092.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		100/200	173010807	1,13001	2203	4298	6501	171277430	SO:0001819	synonymous_variant	8995	exon3			AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"""Tumor necrosis factor (ligand) superfamily"""	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.300C>T	1.37:g.173010807G>A			171277430	NM_005092	A9IQG8|O95852|Q6ISV1	Silent	SNP	ENST00000404377.3	37	CCDS1305.2																																																																																				0.368	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092	
PRDX6	9588	broad.mit.edu	37	1	173454561	173454561	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:173454561A>G	ENST00000340385.5	+	3	446	c.314A>G	c.(313-315)gAt>gGt	p.D105G	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	105	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)	p.D105G(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ATCATCGATGATAGGAATCGG	0.458																																					p.D105G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A314G	1						.						143.0	134.0	137.0					1																	173454561		2203	4300	6503	171721184	SO:0001583	missense	9588	exon3			D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.314A>G	1.37:g.173454561A>G	ENSP00000342026:p.Asp105Gly		171721184	NM_004905	A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Missense_Mutation	SNP	ENST00000340385.5	37	CCDS1307.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.592639	0.66219	.	.	ENSG00000117592	ENST00000340385	T	0.63255	-0.03	5.27	5.27	0.74061	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.84297	0.5441	H	0.99074	4.42	0.80722	D	1	D	0.58620	0.983	P	0.61800	0.894	D	0.90627	0.4564	10	0.72032	D	0.01	-23.6445	14.4572	0.67425	1.0:0.0:0.0:0.0	.	105	P30041	PRDX6_HUMAN	G	105	ENSP00000342026:D105G	ENSP00000342026:D105G	D	+	2	0	PRDX6	171721184	1.000000	0.71417	0.988000	0.46212	0.237000	0.25408	6.995000	0.76257	2.112000	0.64535	0.528000	0.53228	GAT		0.458	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084222.1	NM_004905	
SLC9C2	284525	broad.mit.edu	37	1	173499145	173499145	+	Missense_Mutation	SNP	G	G	A	rs201611790		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:173499145G>A	ENST00000367714.3	-	18	2634	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	738					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R738C(1)									AAGCTGAGGCGCTTTTTGATC	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		19864	0.001		0.0	False		,,,				2504	0.0				p.R738C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2212T	1						.						122.0	116.0	118.0					1																	173499145		2202	4300	6502	171765768	SO:0001583	missense	284525	exon18			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2212C>T	1.37:g.173499145G>A	ENSP00000356687:p.Arg738Cys		171765768	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.39	1.335698	0.24253	.	.	ENSG00000162753	ENST00000367714	T	0.04862	3.54	5.08	0.873	0.19118	.	0.543240	0.16612	N	0.206863	T	0.02455	0.0075	L	0.51422	1.61	0.25642	N	0.986193	D	0.58970	0.984	P	0.45232	0.474	T	0.37776	-0.9691	10	0.87932	D	0	0.1277	3.7176	0.08444	0.0877:0.2954:0.4538:0.1631	.	738	Q5TAH2	S9A11_HUMAN	C	738	ENSP00000356687:R738C	ENSP00000356687:R738C	R	-	1	0	SLC9A11	171765768	0.409000	0.25368	0.069000	0.20011	0.043000	0.13939	1.480000	0.35464	-0.088000	0.12506	-0.982000	0.02568	CGC		0.323	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
SLC9C2	284525	broad.mit.edu	37	1	173502853	173502853	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:173502853G>T	ENST00000367714.3	-	17	2480	c.2058C>A	c.(2056-2058)atC>atA	p.I686I	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	686	Ion transport-like. {ECO:0000250}.				sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.I686I(1)									ATACACAAAAGATATCAATGA	0.284																																					p.I686I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2058A	1						.						60.0	67.0	65.0					1																	173502853		2201	4295	6496	171769476	SO:0001819	synonymous_variant	284525	exon17			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2058C>A	1.37:g.173502853G>T			171769476	NM_178527	Q86UF3	Silent	SNP	ENST00000367714.3	37	CCDS1308.1																																																																																				0.284	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
SLC9C2	284525	broad.mit.edu	37	1	173517637	173517637	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:173517637T>C	ENST00000367714.3	-	12	1774	c.1352A>G	c.(1351-1353)cAc>cGc	p.H451R	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.H349R	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	451					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.H451R(1)									CTCCTGTATGTGCTGAGTGGC	0.358																																					p.H451R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1352G	1						.						131.0	124.0	126.0					1																	173517637		2203	4300	6503	171784260	SO:0001583	missense	284525	exon12			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1352A>G	1.37:g.173517637T>C	ENSP00000356687:p.His451Arg		171784260	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413646	0.25465	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.28069	1.63;1.63	4.53	4.53	0.55603	.	0.000000	0.53938	D	0.000050	T	0.14787	0.0357	M	0.62723	1.935	0.27938	N	0.937609	P	0.42692	0.787	B	0.39217	0.294	T	0.06250	-1.0837	10	0.27082	T	0.32	-15.8937	10.5425	0.45041	0.0:0.0:0.0:1.0	.	451	Q5TAH2	S9A11_HUMAN	R	451;349	ENSP00000356687:H451R;ENSP00000445437:H349R	ENSP00000356687:H451R	H	-	2	0	SLC9A11	171784260	1.000000	0.71417	0.999000	0.59377	0.404000	0.30871	3.387000	0.52501	1.806000	0.52798	0.332000	0.21555	CAC		0.358	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
ANKRD45	339416	broad.mit.edu	37	1	173596226	173596226	+	Missense_Mutation	SNP	C	C	T	rs372141282		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:173596226C>T	ENST00000333279.2	-	4	629	c.569G>A	c.(568-570)gGg>gAg	p.G190E		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	206								p.G190E(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AAGGAGTTTCCCTGATCCCTT	0.353																																					p.G190E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G569A	1						.	C	GLU/GLY	1,4405	2.1+/-5.4	0,1,2202	164.0	167.0	166.0		569	3.4	1.0	1		166	0,8600		0,0,4300	no	missense	ANKRD45	NM_198493.2	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	190/267	173596226	1,13005	2203	4300	6503	171862849	SO:0001583	missense	339416	exon4				CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"""Ankyrin repeat domain containing"""	24786	protein-coding gene	gene with protein product	"""cancer/testis antigen 117"""						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.569G>A	1.37:g.173596226C>T	ENSP00000331268:p.Gly190Glu		171862849	NM_198493	A1A4G2|Q6ZST1	Missense_Mutation	SNP	ENST00000333279.2	37	CCDS1309.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369572	0.61624	2.27E-4	0.0	ENSG00000183831	ENST00000333279	T	0.13778	2.56	5.35	3.44	0.39384	.	0.230688	0.34628	N	0.003819	T	0.20659	0.0497	M	0.71581	2.175	0.41687	D	0.989323	D	0.89917	1.0	D	0.85130	0.997	T	0.01283	-1.1396	10	0.54805	T	0.06	-13.7688	8.369	0.32404	0.1756:0.6551:0.1693:0.0	.	206	Q5TZF3	ANR45_HUMAN	E	190	ENSP00000331268:G190E	ENSP00000331268:G190E	G	-	2	0	ANKRD45	171862849	0.924000	0.31332	0.978000	0.43139	0.863000	0.49368	1.294000	0.33365	0.613000	0.30089	0.557000	0.71058	GGG		0.353	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097580.2	NM_198493	
KLHL20	27252	broad.mit.edu	37	1	173726263	173726263	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:173726263C>T	ENST00000209884.4	+	7	1252	c.1116C>T	c.(1114-1116)ggC>ggT	p.G372G	KLHL20_ENST00000546011.1_Silent_p.G183G	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	372					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.G372G(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTAGGAGGCCATGATGGAT	0.383																																					p.G372G	GBM(159;862 2695 6559 23041)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1116T	1						.						223.0	208.0	213.0					1																	173726263		2203	4300	6503	171992886	SO:0001819	synonymous_variant	27252	exon7			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1116C>T	1.37:g.173726263C>T			171992886	NM_014458	B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	CCDS1310.1																																																																																				0.383	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458	
RC3H1	149041	broad.mit.edu	37	1	173930955	173930955	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:173930955A>T	ENST00000367696.2	-	12	2461	c.2110T>A	c.(2110-2112)Tat>Aat	p.Y704N	RC3H1_ENST00000258349.4_Missense_Mutation_p.Y704N|RC3H1_ENST00000367694.2_Missense_Mutation_p.Y704N			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	704	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y704N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCTGGTACATACGATGGTACT	0.483																																					p.Y704N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2110A	1						.						309.0	299.0	302.0					1																	173930955		2203	4300	6503	172197578	SO:0001583	missense	149041	exon11			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2110T>A	1.37:g.173930955A>T	ENSP00000356669:p.Tyr704Asn		172197578	NM_172071	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.221114	0.58560	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.53206	0.63;0.63;0.63	5.78	5.78	0.91487	.	0.112980	0.64402	D	0.000008	T	0.40886	0.1135	L	0.53249	1.67	0.53688	D	0.999977	B;D;B;B	0.56035	0.001;0.974;0.002;0.003	B;P;B;B	0.46585	0.002;0.521;0.005;0.003	T	0.46062	-0.9218	10	0.66056	D	0.02	-11.3928	16.1037	0.81205	1.0:0.0:0.0:0.0	.	704;704;704;704	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	N	704	ENSP00000356669:Y704N;ENSP00000258349:Y704N;ENSP00000356667:Y704N	ENSP00000258349:Y704N	Y	-	1	0	RC3H1	172197578	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.107000	0.77047	2.191000	0.70037	0.528000	0.53228	TAT		0.483	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	
RC3H1	149041	broad.mit.edu	37	1	173952672	173952672	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:173952672C>T	ENST00000367696.2	-	4	827	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	RC3H1_ENST00000367694.2_Missense_Mutation_p.R159Q|RC3H1_ENST00000258349.4_Missense_Mutation_p.R159Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	159					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R159Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ACCTAAAGATCGAGCTGCCCT	0.507																																					p.R159Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G476A	1						.						157.0	130.0	139.0					1																	173952672		2203	4300	6503	172219295	SO:0001583	missense	149041	exon3			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.476G>A	1.37:g.173952672C>T	ENSP00000356669:p.Arg159Gln		172219295	NM_172071	B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	36	5.631139	0.96682	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.95588	-3.75;-3.75;-3.75	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.992;0.992;0.996;0.997	D	0.98516	1.0621	10	0.87932	D	0	-12.6547	19.2792	0.94046	0.0:1.0:0.0:0.0	.	159;159;159;159	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	Q	159	ENSP00000356669:R159Q;ENSP00000258349:R159Q;ENSP00000356667:R159Q	ENSP00000258349:R159Q	R	-	2	0	RC3H1	172219295	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.630000	0.89119	0.557000	0.71058	CGA		0.507	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071	
GPR52	9293	broad.mit.edu	37	1	174418001	174418001	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:174418001C>A	ENST00000367685.2	+	1	790	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	251					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.S251Y(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GAGGTAGATTCTTCCAGAGAG	0.443																																					p.S251Y	Ovarian(92;924 1390 1930 16467 40583)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C752A	1						.						135.0	132.0	133.0					1																	174418001		2203	4300	6503	172684624	SO:0001583	missense	9293	exon1			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.752C>A	1.37:g.174418001C>A	ENSP00000356658:p.Ser251Tyr		172684624	NM_005684	O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201592	0.22121	.	.	ENSG00000203737	ENST00000367685	T	0.73897	-0.79	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.464806	0.20007	N	0.101201	T	0.76579	0.4007	L	0.49126	1.545	0.33721	D	0.616984	B	0.23249	0.082	B	0.33196	0.159	T	0.77598	-0.2528	10	0.87932	D	0	-0.7143	20.8598	0.99761	0.0:1.0:0.0:0.0	.	251	Q9Y2T5	GPR52_HUMAN	Y	251	ENSP00000356658:S251Y	ENSP00000356658:S251Y	S	+	2	0	GPR52	172684624	1.000000	0.71417	0.020000	0.16555	0.116000	0.19942	5.686000	0.68211	2.937000	0.99478	0.650000	0.86243	TCT		0.443	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684	
TNN	63923	broad.mit.edu	37	1	175086176	175086176	+	Missense_Mutation	SNP	C	C	T	rs371486038		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:175086176C>T	ENST00000239462.4	+	10	2334	c.2221C>T	c.(2221-2223)Cgc>Tgc	p.R741C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	741	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R741C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTATGTGGTGCGCTACACCTC	0.622																																					p.R741C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2221T	1						.	C	CYS/ARG	0,4406		0,0,2203	79.0	77.0	78.0		2221	4.4	1.0	1		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNN	NM_022093.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	741/1300	175086176	1,13005	2203	4300	6503	173352799	SO:0001583	missense	63923	exon10			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2221C>T	1.37:g.175086176C>T	ENSP00000239462:p.Arg741Cys		173352799	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380345	0.61845	0.0	1.16E-4	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58652	0.32	5.37	4.44	0.53790	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.324903	0.31041	N	0.008363	T	0.79446	0.4447	M	0.92169	3.28	0.42249	D	0.991965	D	0.76494	0.999	D	0.70487	0.969	D	0.83795	0.0233	10	0.62326	D	0.03	.	11.921	0.52791	0.3776:0.6224:0.0:0.0	.	741	Q9UQP3	TENN_HUMAN	C	741;564	ENSP00000239462:R741C	ENSP00000239462:R741C	R	+	1	0	TNN	173352799	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.675000	0.46875	1.376000	0.46267	0.655000	0.94253	CGC		0.622	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
TNR	7143	broad.mit.edu	37	1	175325554	175325554	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:175325554G>A	ENST00000367674.2	-	16	3727	c.3019C>T	c.(3019-3021)Cgg>Tgg	p.R1007W	TNR_ENST00000263525.2_Missense_Mutation_p.R1007W			Q92752	TENR_HUMAN	tenascin R	1007	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R1007W(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAACAAGCCGAAATTCCTCA	0.473																																					p.R1007W												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C3019T	1						.						189.0	152.0	165.0					1																	175325554		2203	4300	6503	173592177	SO:0001583	missense	7143	exon16			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3019C>T	1.37:g.175325554G>A	ENSP00000356646:p.Arg1007Trp		173592177	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542069	0.85917	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.57752	0.38;0.38	5.67	5.67	0.87782	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063421	0.64402	D	0.000004	T	0.54464	0.1860	L	0.29908	0.895	0.40611	D	0.981677	P	0.45902	0.868	P	0.49301	0.606	T	0.58148	-0.7687	10	0.66056	D	0.02	.	19.3618	0.94442	0.0:0.0:1.0:0.0	.	1007	Q92752	TENR_HUMAN	W	1007;1007;917	ENSP00000356646:R1007W;ENSP00000263525:R1007W	ENSP00000263525:R1007W	R	-	1	2	TNR	173592177	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.387000	0.79785	2.681000	0.91329	0.655000	0.94253	CGG		0.473	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
TNR	7143	broad.mit.edu	37	1	175372292	175372292	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:175372292G>A	ENST00000367674.2	-	4	1668	c.960C>T	c.(958-960)ggC>ggT	p.G320G	TNR_ENST00000263525.2_Silent_p.G320G			Q92752	TENR_HUMAN	tenascin R	320	EGF-like 5.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.G320G(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCAGTCAGGGCCCTGGTAGC	0.597																																					p.G320G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C960T	1						.						81.0	73.0	76.0					1																	175372292		2203	4300	6503	173638915	SO:0001819	synonymous_variant	7143	exon4			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.960C>T	1.37:g.175372292G>A			173638915	NM_003285	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
TNR	7143	broad.mit.edu	37	1	175375397	175375397	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:175375397G>A	ENST00000367674.2	-	3	1162	c.454C>T	c.(454-456)Cga>Tga	p.R152*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R152*			Q92752	TENR_HUMAN	tenascin R	152					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R152*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACTGGTCTCGCAGCACCGAC	0.617																																					p.R152X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C454T	1						.						108.0	98.0	101.0					1																	175375397		2203	4300	6503	173642020	SO:0001587	stop_gained	7143	exon3			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.454C>T	1.37:g.175375397G>A	ENSP00000356646:p.Arg152*		173642020	NM_003285	C9J563|Q15568|Q5R3G0	Nonsense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.39|19.39	3.817964|3.817964	0.71028|0.71028	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|.	.|.	.|.	5.24|5.24	4.33|4.33	0.51752|0.51752	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32882|.	0.0844|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34825|.	-0.9813|.	3|.	.|0.02654	.|T	.|1	.|.	12.8654|12.8654	0.57936|0.57936	0.0:0.0:0.7036:0.2964|0.0:0.0:0.7036:0.2964	.|.	.|.	.|.	.|.	V|X	35|152	.|.	.|ENSP00000263525:R152X	A|R	-|-	2|1	0|2	TNR|TNR	173642020|173642020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.247000|0.247000	0.25773|0.25773	2.789000|2.789000	0.47813|0.47813	1.218000|1.218000	0.43458|0.43458	-0.226000|-0.226000	0.12346|0.12346	GCG|CGA		0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
RFWD2	64326	broad.mit.edu	37	1	176175717	176175717	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:176175717T>C	ENST00000367669.3	-	1	912	c.398A>G	c.(397-399)gAc>gGc	p.D133G	RFWD2_ENST00000308769.8_Missense_Mutation_p.D133G|RP11-195C7.1_ENST00000456125.1_RNA	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	133					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.D133G(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCATACGAAGTCGTTGCTTTT	0.602																																					p.D133G	Ovarian(134;1413 1765 5706 35534 51541)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A398G	1						.						43.0	42.0	42.0					1																	176175717		2200	4288	6488	174442340	SO:0001583	missense	64326	exon1			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.398A>G	1.37:g.176175717T>C	ENSP00000356641:p.Asp133Gly		174442340	NM_022457	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.859285	0.71834	.	.	ENSG00000143207	ENST00000367669;ENST00000308769;ENST00000436424	T;T	0.18016	2.24;2.24	3.68	2.51	0.30379	Zinc finger, RING/FYVE/PHD-type (1);	0.056069	0.64402	D	0.000002	T	0.35307	0.0927	M	0.73319	2.225	0.58432	D	0.999992	D;B	0.89917	1.0;0.41	D;B	0.74674	0.984;0.383	T	0.03662	-1.1015	10	0.54805	T	0.06	-8.0227	8.5695	0.33561	0.1729:0.0:0.0:0.8271	.	133;133	Q8NHY2-2;Q8NHY2	.;RFWD2_HUMAN	G	133	ENSP00000356641:D133G;ENSP00000310943:D133G	ENSP00000310943:D133G	D	-	2	0	RFWD2	174442340	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.317000	0.59184	0.565000	0.29255	0.374000	0.22700	GAC		0.602	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457	
PAPPA2	60676	broad.mit.edu	37	1	176525583	176525583	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:176525583A>C	ENST00000367662.3	+	2	1289	c.125A>C	c.(124-126)cAg>cCg	p.Q42P	PAPPA2_ENST00000367661.3_Missense_Mutation_p.Q42P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	42					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q42P(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCTGAATCAGGTGCTGTTG	0.557																																					p.Q42P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A125C	1						.						91.0	91.0	91.0					1																	176525583		1999	4175	6174	174792206	SO:0001583	missense	60676	exon2			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.125A>C	1.37:g.176525583A>C	ENSP00000356634:p.Gln42Pro		174792206	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414740	0.42817	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.36520	4.5;1.25	4.82	4.82	0.62117	.	0.296117	0.23435	U	0.048213	T	0.40067	0.1102	M	0.67953	2.075	0.21553	N	0.999645	P;P	0.48911	0.856;0.917	B;B	0.44315	0.266;0.446	T	0.42599	-0.9442	10	0.59425	D	0.04	-4.4199	10.7686	0.46308	1.0:0.0:0.0:0.0	.	42;42	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	P	42	ENSP00000356634:Q42P;ENSP00000356633:Q42P	ENSP00000356633:Q42P	Q	+	2	0	PAPPA2	174792206	0.997000	0.39634	0.631000	0.29282	0.976000	0.68499	3.095000	0.50235	1.811000	0.52892	0.459000	0.35465	CAG		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
PAPPA2	60676	broad.mit.edu	37	1	176525739	176525739	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:176525739G>A	ENST00000367662.3	+	2	1445	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R94H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	94					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R94H(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATACAGGACGCAGCAAACCA	0.567																																					p.R94H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G281A	1						.						129.0	122.0	125.0					1																	176525739		1994	4162	6156	174792362	SO:0001583	missense	60676	exon2			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.281G>A	1.37:g.176525739G>A	ENSP00000356634:p.Arg94His		174792362	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	5.354	0.250593	0.10130	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.31510	4.72;1.49	4.33	-2.33	0.06724	.	1.719020	0.03557	N	0.226406	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.22417	-1.0217	10	0.17369	T	0.5	0.0018	9.3066	0.37878	0.575:0.0:0.425:0.0	.	94;94	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	H	94	ENSP00000356634:R94H;ENSP00000356633:R94H	ENSP00000356633:R94H	R	+	2	0	PAPPA2	174792362	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.116000	0.03286	-0.437000	0.07243	0.561000	0.74099	CGC		0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
PAPPA2	60676	broad.mit.edu	37	1	176738806	176738806	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:176738806G>A	ENST00000367662.3	+	16	5551	c.4387G>A	c.(4387-4389)Gac>Aac	p.D1463N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1463	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1463N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTTCCCGTGGACTGCGGTGT	0.488																																					p.D1463N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4387A	1						.						136.0	129.0	131.0					1																	176738806		1932	4137	6069	175005429	SO:0001583	missense	60676	exon16			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4387G>A	1.37:g.176738806G>A	ENSP00000356634:p.Asp1463Asn		175005429	NM_020318	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753926	0.69648	.	.	ENSG00000116183	ENST00000367662	T	0.76448	-1.02	6.17	4.29	0.51040	Complement control module (1);Sushi/SCR/CCP (1);	0.048106	0.85682	N	0.000000	D	0.83381	0.5242	M	0.82823	2.61	0.80722	D	1	P	0.46784	0.884	P	0.50270	0.636	D	0.83966	0.0324	10	0.54805	T	0.06	-23.6306	11.8956	0.52654	0.066:0.1234:0.8106:0.0	.	1463	Q9BXP8	PAPP2_HUMAN	N	1463	ENSP00000356634:D1463N	ENSP00000356634:D1463N	D	+	1	0	PAPPA2	175005429	1.000000	0.71417	0.707000	0.30419	0.163000	0.22366	7.244000	0.78228	0.920000	0.36970	-0.175000	0.13238	GAC		0.488	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
BRINP2	57795	broad.mit.edu	37	1	177249739	177249739	+	Missense_Mutation	SNP	G	G	A	rs143766904	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:177249739G>A	ENST00000361539.4	+	8	1739	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	476					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.R476H(1)									AATAGCACACGCTGTGGGAGC	0.637																																					p.R476H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1427A	1						.	G	HIS/ARG	0,4406		0,0,2203	30.0	31.0	31.0		1427	5.2	1.0	1	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM5B	NM_021165.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	476/784	177249739	1,13005	2203	4300	6503	175516362	SO:0001583	missense	57795	exon8				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1427G>A	1.37:g.177249739G>A	ENSP00000354481:p.Arg476His		175516362	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051663	0.36181	0.0	1.16E-4	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.42900	0.96	5.21	5.21	0.72293	Epidermal growth factor-like (1);	0.057785	0.64402	D	0.000001	T	0.63082	0.2481	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.76494	0.999;0.983	D;P	0.68765	0.96;0.614	T	0.66376	-0.5939	10	0.59425	D	0.04	-20.7044	12.7843	0.57496	0.08:0.0:0.92:0.0	.	371;476	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	H	229;476	ENSP00000354481:R476H	ENSP00000354481:R476H	R	+	2	0	FAM5B	175516362	1.000000	0.71417	0.997000	0.53966	0.225000	0.24961	6.550000	0.73905	2.427000	0.82271	0.313000	0.20887	CGC		0.637	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
SEC16B	89866	broad.mit.edu	37	1	177917064	177917064	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:177917064T>G	ENST00000308284.6	-	13	1648	c.1559A>C	c.(1558-1560)aAg>aCg	p.K520T	SEC16B_ENST00000464631.2_Missense_Mutation_p.K521T|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	520					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.K521T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCCCCACTGCTTTTCTCCACA	0.468																																					p.K520T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1559C	1						.						44.0	46.0	46.0					1																	177917064		1923	4068	5991	176183687	SO:0001583	missense	89866	exon13			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1559A>C	1.37:g.177917064T>G	ENSP00000308339:p.Lys520Thr		176183687	NM_033127	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.81|14.81	2.647015|2.647015	0.47258|0.47258	.|.	.|.	ENSG00000120341|ENSG00000120341	ENST00000527976|ENST00000308284;ENST00000414025;ENST00000239472;ENST00000464631	.|T;T	.|0.45668	.|2.49;0.89	5.51|5.51	1.97|1.97	0.26223|0.26223	.|.	0.365601|0.365601	0.27035|0.27035	N|N	0.021247|0.021247	T|T	0.20981|0.20981	0.0505|0.0505	N|N	0.13043|0.13043	0.29|0.29	0.26340|0.26340	N|N	0.977377|0.977377	.|B;B;B;B;B	.|0.32968	.|0.392;0.078;0.131;0.022;0.078	.|B;B;B;B;B	.|0.30401	.|0.115;0.063;0.063;0.021;0.063	T|T	0.09907|0.09907	-1.0653|-1.0653	6|10	.|0.38643	.|T	.|0.18	-14.3601|-14.3601	5.9181|5.9181	0.19065|0.19065	0.0:0.2233:0.4592:0.3175|0.0:0.2233:0.4592:0.3175	.|.	.|75;521;521;520;217	.|B1AM07;E9PK14;B1AM08;Q96JE7;Q96PW0	.|.;.;.;SC16B_HUMAN;.	N|T	103|520;204;235;521	.|ENSP00000308339:K520T;ENSP00000431727:K521T	.|ENSP00000239472:K235T	K|K	-|-	3|2	2|0	AL359075.1|AL359075.1	176183687|176183687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	1.203000|1.203000	0.32284|0.32284	0.383000|0.383000	0.24910|0.24910	0.455000|0.455000	0.32223|0.32223	AAA|AAG		0.468	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
RASAL2	9462	broad.mit.edu	37	1	178427189	178427189	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:178427189C>T	ENST00000462775.1	+	12	2464	c.2339C>T	c.(2338-2340)tCg>tTg	p.S780L	RASAL2_ENST00000448150.3_Missense_Mutation_p.S910L|RASAL2_ENST00000367649.3_Missense_Mutation_p.S921L	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	780					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.S921L(1)|p.S910L(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGCCCTTGTCGTTCCAGAAC	0.542																																					p.S921L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2762T	1						.						87.0	89.0	89.0					1																	178427189		2203	4300	6503	176693812	SO:0001583	missense	9462	exon14			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2339C>T	1.37:g.178427189C>T	ENSP00000420558:p.Ser780Leu		176693812	NM_170692	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418634	0.83559	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.30981	1.51;1.51;1.51	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.60663	0.2286	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.997;0.999;0.986	T	0.65882	-0.6060	10	0.87932	D	0	.	19.0028	0.92841	0.0:1.0:0.0:0.0	.	910;780;921	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	L	910;921;780	ENSP00000407768:S910L;ENSP00000356621:S921L;ENSP00000420558:S780L	ENSP00000356621:S921L	S	+	2	0	RASAL2	176693812	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	7.155000	0.77445	2.480000	0.83734	0.655000	0.94253	TCG		0.542	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692	
FAM20B	9917	broad.mit.edu	37	1	179033562	179033562	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:179033562G>A	ENST00000263733.4	+	6	1205	c.869G>A	c.(868-870)cGc>cAc	p.R290H		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	290						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.R290H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						AATGCTGACCGCCATCACTAT	0.488																																					p.R290H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G869A	1						.						114.0	102.0	106.0					1																	179033562		2203	4300	6503	177300185	SO:0001583	missense	9917	exon6			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.869G>A	1.37:g.179033562G>A	ENSP00000263733:p.Arg290His		177300185	NM_014864	Q5W0C3|Q5W0C4	Missense_Mutation	SNP	ENST00000263733.4	37	CCDS1328.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545732	0.96488	.	.	ENSG00000116199	ENST00000263733	D	0.82984	-1.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93422	0.6778	10	0.87932	D	0	-14.9849	20.2985	0.98592	0.0:0.0:1.0:0.0	.	290	O75063	XYLK_HUMAN	H	290	ENSP00000263733:R290H	ENSP00000263733:R290H	R	+	2	0	FAM20B	177300185	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	CGC		0.488	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	NM_014864	
ABL2	27	broad.mit.edu	37	1	179078352	179078352	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:179078352C>T	ENST00000502732.1	-	12	2253	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	ABL2_ENST00000367623.4_Missense_Mutation_p.E663K|ABL2_ENST00000507173.1_Missense_Mutation_p.E663K|ABL2_ENST00000511413.1_Missense_Mutation_p.E684K|ABL2_ENST00000512653.1_Missense_Mutation_p.E669K|ABL2_ENST00000344730.3_Missense_Mutation_p.E669K|ABL2_ENST00000408940.3_Missense_Mutation_p.E648K|ABL2_ENST00000504405.1_Missense_Mutation_p.E648K	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	684					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.E648K(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCCGTGAGTTCGTATTTCTTA	0.512			T	ETV6	AML																																p.E648K			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1942A	1						.						189.0	198.0	195.0					1																	179078352		2203	4300	6503	177344975	SO:0001583	missense	27	exon11			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2050G>A	1.37:g.179078352C>T	ENSP00000427562:p.Glu684Lys		177344975	NM_001168239	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988498	0.53934	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.16196	3.0;3.0;2.36;3.0;2.36;3.0;2.36;2.36	5.7	5.7	0.88788	.	0.000000	0.51477	D	0.000097	T	0.37376	0.1001	L	0.48642	1.525	0.80722	D	1	D;D;D;B;P;D;D;D	0.89917	0.997;0.997;0.997;0.069;0.474;1.0;0.979;0.977	P;P;P;B;B;D;P;P	0.79108	0.728;0.654;0.654;0.08;0.056;0.992;0.512;0.481	T	0.01252	-1.1405	10	0.46703	T	0.11	.	18.8208	0.92096	0.0:1.0:0.0:0.0	.	663;663;684;648;684;669;648;669	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	K	684;648;669;669;648;663;663;684	ENSP00000427562:E684K;ENSP00000386152:E648K;ENSP00000339209:E669K;ENSP00000423578:E669K;ENSP00000426831:E648K;ENSP00000356595:E663K;ENSP00000423413:E663K;ENSP00000424697:E684K	ENSP00000339209:E669K	E	-	1	0	ABL2	177344975	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.636000	0.83301	2.686000	0.91538	0.591000	0.81541	GAA		0.512	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
AXDND1	126859	broad.mit.edu	37	1	179380336	179380336	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:179380336G>T	ENST00000367618.3	+	12	1552	c.1165G>T	c.(1165-1167)Gat>Tat	p.D389Y	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D389Y	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	389								p.D389Y(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GATGGAGAATGATATGAAAAA	0.323																																					p.D389Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1165T	1						.						84.0	98.0	94.0					1																	179380336		2203	4300	6503	177646959	SO:0001583	missense	126859	exon12			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1165G>T	1.37:g.179380336G>T	ENSP00000356590:p.Asp389Tyr		177646959	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621425	0.66787	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.45668	2.21;0.89;2.22	5.18	5.18	0.71444	.	0.211470	0.42294	D	0.000728	T	0.56615	0.1997	L	0.44542	1.39	0.31864	N	0.62066	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.952	T	0.63528	-0.6617	10	0.72032	D	0.01	-5.945	14.5509	0.68065	0.0:0.0:1.0:0.0	.	347;389;389	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Y	389;347;389;323	ENSP00000356590:D389Y;ENSP00000416712:D389Y;ENSP00000391716:D323Y	ENSP00000353471:D347Y	D	+	1	0	AXDND1	177646959	0.996000	0.38824	0.983000	0.44433	0.986000	0.74619	3.045000	0.49838	2.552000	0.86080	0.585000	0.79938	GAT		0.323	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	
AXDND1	126859	broad.mit.edu	37	1	179437776	179437776	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:179437776C>T	ENST00000367618.3	+	17	2384	c.1997C>T	c.(1996-1998)tCg>tTg	p.S666L	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	666								p.S666L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GATTCTGTTTCGTAAGTTCCC	0.308																																					p.S666L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1997T	1						.						81.0	83.0	82.0					1																	179437776		2202	4300	6502	177704399	SO:0001630	splice_region_variant	126859	exon17			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1997+1C>T	1.37:g.179437776C>T			177704399	NM_144696	Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	ENST00000367618.3	37	CCDS30948.1	.	.	.	.	.	.	.	.	.	.	C	9.405	1.079007	0.20227	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000434088	T;T	0.21932	1.98;1.98	4.42	-2.43	0.06522	.	1.820580	0.02310	N	0.071991	T	0.11367	0.0277	N	0.05510	-0.035	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.17289	-1.0374	10	0.29301	T	0.29	2.4503	8.4349	0.32780	0.0:0.4807:0.0:0.5193	.	624;666	E9PCJ4;Q5T1B0	.;AXDN1_HUMAN	L	666;624;600	ENSP00000356590:S666L;ENSP00000391716:S600L	ENSP00000353471:S624L	S	+	2	0	AXDND1	177704399	0.068000	0.21057	0.397000	0.26308	0.031000	0.12232	-0.686000	0.05161	-0.275000	0.09219	-0.290000	0.09829	TCG		0.308	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	Missense_Mutation
NPHS2	7827	broad.mit.edu	37	1	179526215	179526215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:179526215G>A	ENST00000367615.4	-	5	753	c.685C>T	c.(685-687)Cga>Tga	p.R229*	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	229			R -> Q (appears to enhance susceptibility to NPHS2 in association with a second mutant allele; disease-associated 3' mutations exert a dominant-negative effect on this mutation but behave as recessive alleles when associated with the wild-type protein). {ECO:0000269|PubMed:12464671, ECO:0000269|PubMed:21722858, ECO:0000269|PubMed:23800802, ECO:0000269|PubMed:24509478}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)		p.R229*(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GTGAGGGATCGATGTGCTAGG	0.413																																					p.R229X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C685T	1						.						111.0	92.0	98.0					1																	179526215		2203	4300	6503	177792838	SO:0001587	stop_gained	7827	exon5			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.685C>T	1.37:g.179526215G>A	ENSP00000356587:p.Arg229*		177792838	NM_014625	B1AM32|B1AM33|Q8N6Q5	Nonsense_Mutation	SNP	ENST00000367615.4	37	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	37	6.308813	0.97462	.	.	ENSG00000116218	ENST00000367615	.	.	.	5.93	5.93	0.95920	.	0.070347	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5416	18.9177	0.92512	0.0:0.0:1.0:0.0	.	.	.	.	X	229	.	ENSP00000356587:R229X	R	-	1	2	NPHS2	177792838	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.689000	0.61723	2.826000	0.97356	0.655000	0.94253	CGA		0.413	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1		
QSOX1	5768	broad.mit.edu	37	1	180165751	180165751	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:180165751A>C	ENST00000367602.3	+	12	1897	c.1823A>C	c.(1822-1824)aAg>aCg	p.K608T	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	608					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)	p.K608T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGACCCCCGAAGCTGCACCCT	0.617																																					p.K608T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1823C	1						.						53.0	53.0	53.0					1																	180165751		2203	4300	6503	178432374	SO:0001583	missense	5768	exon12			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1823A>C	1.37:g.180165751A>C	ENSP00000356574:p.Lys608Thr		178432374	NM_002826	Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	A	8.888	0.953246	0.18431	.	.	ENSG00000116260	ENST00000367602	T	0.04454	3.62	4.48	1.95	0.26073	.	3.396470	0.00481	N	0.000136	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	0.999997	B	0.27068	0.167	B	0.23275	0.045	T	0.38779	-0.9645	10	0.33141	T	0.24	0.4512	6.9887	0.24743	0.6975:0.1545:0.0:0.148	.	608	O00391	QSOX1_HUMAN	T	608	ENSP00000356574:K608T	ENSP00000356574:K608T	K	+	2	0	QSOX1	178432374	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.211000	0.09332	0.251000	0.21505	0.418000	0.28097	AAG		0.617	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826	
ACBD6	84320	broad.mit.edu	37	1	180461442	180461442	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:180461442C>T	ENST00000367595.3	-	3	1033	c.346G>A	c.(346-348)Gca>Aca	p.A116T		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	116	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.					cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.A116T(1)	ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						TTAACTACTGCGATATATTCC	0.358																																					p.A116T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G346A	1						.						112.0	113.0	113.0					1																	180461442		2203	4300	6503	178728065	SO:0001583	missense	84320	exon3			BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.346G>A	1.37:g.180461442C>T	ENSP00000356567:p.Ala116Thr		178728065	NM_032360		Missense_Mutation	SNP	ENST00000367595.3	37	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538698	0.45176	.	.	ENSG00000135847	ENST00000367595	T	0.21734	1.99	5.05	5.05	0.67936	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.229186	0.45361	D	0.000375	T	0.27765	0.0683	N	0.16656	0.425	0.50632	D	0.99988	D	0.69078	0.997	D	0.66084	0.941	T	0.06588	-1.0818	10	0.16420	T	0.52	-13.0841	17.1918	0.86881	0.0:1.0:0.0:0.0	.	116	Q9BR61	ACBD6_HUMAN	T	116	ENSP00000356567:A116T	ENSP00000356567:A116T	A	-	1	0	ACBD6	178728065	0.998000	0.40836	0.956000	0.39512	0.685000	0.39939	3.680000	0.54641	2.347000	0.79759	0.650000	0.86243	GCA		0.358	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360	
XPR1	9213	broad.mit.edu	37	1	180772531	180772531	+	Silent	SNP	C	C	T	rs372023037		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:180772531C>T	ENST00000367590.4	+	4	429	c.231C>T	c.(229-231)ctC>ctT	p.L77L	XPR1_ENST00000367589.3_Silent_p.L77L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	77	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.L77L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TAGAGAAGCTCGCAGAGGCTC	0.418																																					p.L77L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C231T	1						.	C	,	0,4406		0,0,2203	52.0	51.0	51.0		231,231	-4.4	0.9	1		51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	XPR1	NM_001135669.1,NM_004736.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	77/632,77/697	180772531	1,13005	2203	4300	6503	179039154	SO:0001819	synonymous_variant	9213	exon4			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.231C>T	1.37:g.180772531C>T			179039154	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	CCDS1340.1																																																																																				0.418	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
XPR1	9213	broad.mit.edu	37	1	180772622	180772622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:180772622C>T	ENST00000367590.4	+	4	520	c.322C>T	c.(322-324)Cga>Tga	p.R108*	XPR1_ENST00000367589.3_Nonsense_Mutation_p.R108*	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	108	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.R108*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TACTACGCTGCGACAACGCAG	0.478																																					p.R108X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C322T	1						.						156.0	144.0	148.0					1																	180772622		2203	4300	6503	179039245	SO:0001587	stop_gained	9213	exon4			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.322C>T	1.37:g.180772622C>T	ENSP00000356562:p.Arg108*		179039245	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Nonsense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	37	6.436571	0.97564	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	.	.	.	5.93	4.99	0.66335	.	0.137969	0.46145	D	0.000302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-5.7083	13.8661	0.63590	0.274:0.726:0.0:0.0	.	.	.	.	X	108	.	ENSP00000356561:R108X	R	+	1	2	XPR1	179039245	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.830000	0.55768	2.814000	0.96858	0.591000	0.81541	CGA		0.478	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
XPR1	9213	broad.mit.edu	37	1	180853152	180853152	+	Missense_Mutation	SNP	C	C	T	rs571315671		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:180853152C>T	ENST00000367590.4	+	15	2239	c.2041C>T	c.(2041-2043)Cgt>Tgt	p.R681C	XPR1_ENST00000367589.3_Missense_Mutation_p.R616C	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	681					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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.R681C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATCCAAGGCTCGTGACACTAA	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		20372	0.001		0.0	False		,,,				2504	0.0				p.R616C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1846T	1						.						200.0	179.0	186.0					1																	180853152		2203	4300	6503	179119775	SO:0001583	missense	9213	exon14			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.2041C>T	1.37:g.180853152C>T	ENSP00000356562:p.Arg681Cys		179119775	NM_001135669	O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246618	0.59103	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.48836	0.8	5.61	5.61	0.85477	.	0.283971	0.34291	N	0.004083	T	0.45438	0.1342	L	0.38175	1.15	0.30202	N	0.798544	D;D	0.64830	0.994;0.975	P;P	0.50617	0.646;0.528	T	0.53563	-0.8421	10	0.72032	D	0.01	-7.0335	8.8767	0.35350	0.1504:0.7732:0.0:0.0765	.	616;681	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	C	681;616	ENSP00000356562:R681C	ENSP00000356561:R616C	R	+	1	0	XPR1	179119775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.604000	0.54081	2.640000	0.89533	0.655000	0.94253	CGT		0.378	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736	
CACNA1E	777	broad.mit.edu	37	1	181724489	181724489	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:181724489C>A	ENST00000367573.2	+	28	3945	c.3945C>A	c.(3943-3945)ttC>ttA	p.F1315L	CACNA1E_ENST00000367567.4_Missense_Mutation_p.F922L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1296L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1247L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1315L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1266L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.F1296L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1315					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.F1315L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGAAAGTTCTTTTATTGCA	0.448																																					p.F1315L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3945A	1						.						231.0	226.0	228.0					1																	181724489		2073	4225	6298	179991112	SO:0001583	missense	777	exon28			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3945C>A	1.37:g.181724489C>A	ENSP00000356545:p.Phe1315Leu		179991112	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123710	0.56613	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.29	5.29	0.74685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	L	0.57536	1.79	0.80722	D	1	B;D;D	0.65815	0.179;0.995;0.974	P;D;D	0.70487	0.454;0.957;0.969	D	0.98296	1.0516	10	0.62326	D	0.03	.	13.2788	0.60202	0.0:0.9214:0.0:0.0786	.	1296;1315;1315	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1315;1296;1266;1247;922;1296;1315	ENSP00000356542:F1315L;ENSP00000434814:F1296L;ENSP00000350183:F1266L;ENSP00000351101:F1247L;ENSP00000356539:F922L;ENSP00000353222:F1296L;ENSP00000356545:F1315L	ENSP00000350183:F1266L	F	+	3	2	CACNA1E	179991112	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.586000	0.23894	2.468000	0.83385	0.650000	0.86243	TTC		0.448	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
ACTL8	81569	broad.mit.edu	37	1	18152558	18152558	+	Silent	SNP	G	G	A	rs371142860		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:18152558G>A	ENST00000375406.1	+	3	861	c.645G>A	c.(643-645)ccG>ccA	p.P215P		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	215					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P215P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCTACGTGCCGCAGAATCTGG	0.562											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P215P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G645A	1						.	G		0,4406		0,0,2203	45.0	47.0	46.0		645	-8.6	0.0	1		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACTL8	NM_030812.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		215/367	18152558	1,13005	2203	4300	6503	18025145	SO:0001819	synonymous_variant	81569	exon3			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.645G>A	1.37:g.18152558G>A		723	18025145	NM_030812	Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	CCDS183.1																																																																																				0.562	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812	
CACNA1E	777	broad.mit.edu	37	1	181764067	181764067	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:181764067C>T	ENST00000367573.2	+	46	6095	c.6095C>T	c.(6094-6096)tCg>tTg	p.S2032L	CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1596L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2013L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1921L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1989L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1983L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S1970L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2032					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S1989L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAAATTCCTCGTGGTTGGAG	0.527																																					p.S1989L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5966T	1						.						78.0	76.0	77.0					1																	181764067		1912	4131	6043	180030690	SO:0001583	missense	777	exon45			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6095C>T	1.37:g.181764067C>T	ENSP00000356545:p.Ser2032Leu		180030690	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422489	0.43020	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95788	-3.75;-3.75;-3.75;-3.75;-3.81;-3.75;-3.75	5.91	5.91	0.95273	.	0.752924	0.13193	N	0.406526	D	0.90721	0.7088	N	0.14661	0.345	0.48511	D	0.999663	B;B	0.23128	0.08;0.022	B;B	0.17979	0.02;0.005	D	0.84987	0.0892	10	0.12766	T	0.61	.	19.8936	0.96942	0.0:1.0:0.0:0.0	.	1970;1989	Q15878-2;Q15878-3	.;.	L	1989;1970;1983;1921;1596;2013;2032	ENSP00000356542:S1989L;ENSP00000434814:S1970L;ENSP00000350183:S1983L;ENSP00000351101:S1921L;ENSP00000356539:S1596L;ENSP00000353222:S2013L;ENSP00000356545:S2032L	ENSP00000350183:S1983L	S	+	2	0	CACNA1E	180030690	1.000000	0.71417	0.968000	0.41197	0.969000	0.65631	5.073000	0.64395	2.793000	0.96121	0.655000	0.94253	TCG		0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
RNASEL	6041	broad.mit.edu	37	1	182555637	182555637	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:182555637G>A	ENST00000367559.3	-	2	558	c.305C>T	c.(304-306)gCg>gTg	p.A102V	RNASEL_ENST00000444138.1_Missense_Mutation_p.A102V|RNASEL_ENST00000539397.1_Missense_Mutation_p.A102V	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	102					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.A102V(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CACGCTCCCCGCAATCGCTGC	0.498																																					p.A102V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C305T	1						.						60.0	58.0	58.0					1																	182555637		2203	4300	6503	180822260	SO:0001583	missense	6041	exon2			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.305C>T	1.37:g.182555637G>A	ENSP00000356530:p.Ala102Val		180822260	NM_021133	Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	G	6.676	0.493248	0.12702	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.65549	-0.16;-0.16;-0.16	4.71	-9.43	0.00607	Ankyrin repeat-containing domain (3);	2.736470	0.01078	N	0.004928	T	0.36608	0.0973	N	0.20685	0.6	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.06405	0.002;0.0;0.002	T	0.21724	-1.0237	10	0.26408	T	0.33	6.0179	1.1105	0.01703	0.1557:0.2965:0.1875:0.3604	.	102;102;102	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	V	102	ENSP00000356530:A102V;ENSP00000411147:A102V;ENSP00000440844:A102V	ENSP00000356530:A102V	A	-	2	0	RNASEL	180822260	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.663000	0.01968	-2.466000	0.00533	-0.706000	0.03657	GCG		0.498	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133	
RGS16	6004	broad.mit.edu	37	1	182571247	182571247	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:182571247C>T	ENST00000367558.5	-	4	389	c.241G>A	c.(241-243)Gct>Act	p.A81T		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	81	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)	p.A81T(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						TTCAGGAAAGCGTGGAAGGCA	0.532											OREG0014036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A81T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	1						.						68.0	76.0	74.0					1																	182571247		2203	4300	6503	180837870	SO:0001583	missense	6004	exon4			U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.241G>A	1.37:g.182571247C>T	ENSP00000356529:p.Ala81Thr	1977	180837870	NM_002928	B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200594	0.58126	.	.	ENSG00000143333	ENST00000367558	T	0.01918	4.56	5.1	5.1	0.69264	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.099373	0.64402	D	0.000002	T	0.02156	0.0067	N	0.16567	0.415	0.45378	D	0.998362	B;B	0.21147	0.052;0.011	B;B	0.21917	0.037;0.008	T	0.59161	-0.7506	10	0.45353	T	0.12	.	13.2703	0.60157	0.0:0.9205:0.0:0.0795	.	81;81	B4DVW5;O15492	.;RGS16_HUMAN	T	81	ENSP00000356529:A81T	ENSP00000356529:A81T	A	-	1	0	RGS16	180837870	0.048000	0.20356	0.965000	0.40720	0.961000	0.63080	0.503000	0.22610	2.525000	0.85131	0.563000	0.77884	GCT		0.532	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928	
DHX9	1660	broad.mit.edu	37	1	182829165	182829165	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:182829165T>G	ENST00000367549.3	+	12	1288	c.1178T>G	c.(1177-1179)tTt>tGt	p.F393C		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	393					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTGAAGAAATTTGAAAGTGAG	0.413																																					p.F393C	Colon(69;210 1162 3697 13559 39565)											.	.	0			c.T1178G	1						.						136.0	128.0	131.0					1																	182829165		1853	4091	5944	181095788	SO:0001583	missense	1660	exon12			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1178T>G	1.37:g.182829165T>G	ENSP00000356520:p.Phe393Cys		181095788	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.272946	0.80580	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.07800	3.16	5.84	5.84	0.93424	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	L	0.48877	1.53	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.00273	-1.1858	10	0.42905	T	0.14	.	15.8893	0.79279	0.0:0.0:0.0:1.0	.	393	Q08211	DHX9_HUMAN	C	393	ENSP00000356520:F393C	ENSP00000356520:F393C	F	+	2	0	DHX9	181095788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.301000	0.78850	2.243000	0.73865	0.533000	0.62120	TTT		0.413	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
LAMC2	3918	broad.mit.edu	37	1	183190045	183190045	+	Missense_Mutation	SNP	C	C	T	rs184817147	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:183190045C>T	ENST00000264144.4	+	5	654	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	LAMC2_ENST00000493293.1_Missense_Mutation_p.R197C	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	197					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.R197C(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGCCAGCTGCCGCAGCTCTGC	0.468													C|||	7	0.00139776	0.0	0.0	5008	,	,		15448	0.006		0.0	False		,,,				2504	0.001				p.R197C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C589T	1						.						77.0	79.0	78.0					1																	183190045		2203	4300	6503	181456668	SO:0001583	missense	3918	exon5			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.589C>T	1.37:g.183190045C>T	ENSP00000264144:p.Arg197Cys		181456668	NM_018891	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	14.91	2.675543	0.47781	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.18657	2.35;2.2	5.41	4.42	0.53409	Growth factor, receptor (1);	0.908562	0.09424	N	0.804096	T	0.14830	0.0358	L	0.38175	1.15	0.29707	N	0.839684	D;D	0.59357	0.958;0.985	B;P	0.45712	0.255;0.491	T	0.05370	-1.0889	10	0.56958	D	0.05	.	7.7479	0.28879	0.4224:0.4614:0.1162:0.0	.	197;197	Q13753;Q13753-2	LAMC2_HUMAN;.	C	197	ENSP00000432063:R197C;ENSP00000264144:R197C	ENSP00000264144:R197C	R	+	1	0	LAMC2	181456668	0.015000	0.18098	0.974000	0.42286	0.991000	0.79684	0.176000	0.16782	2.529000	0.85273	0.655000	0.94253	CGC		0.468	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
LAMC2	3918	broad.mit.edu	37	1	183212339	183212339	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:183212339G>A	ENST00000264144.4	+	23	3451	c.3386G>A	c.(3385-3387)cGa>cAa	p.R1129Q		NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1129	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.R1129Q(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAGCTTTCCCGAGCCAAGACC	0.522																																					p.R1129Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3386A	1						.						75.0	74.0	75.0					1																	183212339		2203	4300	6503	181478962	SO:0001583	missense	3918	exon23			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3386G>A	1.37:g.183212339G>A	ENSP00000264144:p.Arg1129Gln		181478962	NM_005562	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625679	0.28889	.	.	ENSG00000058085	ENST00000264144	T	0.78246	-1.16	5.02	1.23	0.21249	.	0.984648	0.08283	N	0.969592	T	0.61702	0.2368	L	0.28192	0.835	0.19300	N	0.999974	B	0.13594	0.008	B	0.08055	0.003	T	0.42085	-0.9472	10	0.15952	T	0.53	.	6.5257	0.22299	0.5531:0.0:0.4469:0.0	.	1129	Q13753	LAMC2_HUMAN	Q	1129	ENSP00000264144:R1129Q	ENSP00000264144:R1129Q	R	+	2	0	LAMC2	181478962	0.000000	0.05858	0.939000	0.37840	0.867000	0.49689	0.278000	0.18753	0.306000	0.22856	0.650000	0.86243	CGA		0.522	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
COLGALT2	23127	broad.mit.edu	37	1	183913415	183913415	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:183913415C>T	ENST00000361927.4	-	10	1683	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N	COLGALT2_ENST00000367520.3_Missense_Mutation_p.D175N|COLGALT2_ENST00000546159.1_Missense_Mutation_p.D438N|COLGALT2_ENST00000367521.1_Missense_Mutation_p.D46N	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	438					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.D438N(1)									AAACGCACATCGTCTTCAATT	0.403																																					p.D438N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1312A	1						.						124.0	114.0	117.0					1																	183913415		2203	4300	6503	182180038	SO:0001583	missense	23127	exon10			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1312G>A	1.37:g.183913415C>T	ENSP00000354960:p.Asp438Asn		182180038	NM_015101	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.719274	0.89205	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367521;ENST00000367520	D;D	0.99060	-5.29;-5.38	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.999	D	0.97912	1.0309	10	0.87932	D	0	-13.51	18.3069	0.90185	0.0:1.0:0.0:0.0	.	438;438;175	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	N	438;438;46;175	ENSP00000439112:D438N;ENSP00000354960:D438N	ENSP00000354960:D438N	D	-	1	0	GLT25D2	182180038	1.000000	0.71417	0.626000	0.29213	0.517000	0.34286	7.521000	0.81832	2.326000	0.78906	0.561000	0.74099	GAT		0.403	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
COLGALT2	23127	broad.mit.edu	37	1	183942800	183942800	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:183942800G>A	ENST00000361927.4	-	4	948	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L	COLGALT2_ENST00000546159.1_Silent_p.L193L	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	193					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.L193L(1)									CGAGACTCCAGCATGGGGGCC	0.418																																					p.L193L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C577T	1						.						102.0	116.0	112.0					1																	183942800		2203	4300	6503	182209423	SO:0001819	synonymous_variant	23127	exon4			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.577C>T	1.37:g.183942800G>A			182209423	NM_015101	O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	CCDS1360.1																																																																																				0.418	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
COLGALT2	23127	broad.mit.edu	37	1	183944265	183944265	+	Missense_Mutation	SNP	C	C	T	rs368641256		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:183944265C>T	ENST00000361927.4	-	3	829	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	COLGALT2_ENST00000546159.1_Missense_Mutation_p.R153Q	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	153					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)	p.R153Q(1)									CCTCGCAGTTCGAAGGGCTGC	0.423																																					p.R153Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G458A	1						.	C	GLN/ARG	0,4406		0,0,2203	120.0	114.0	116.0		458	5.2	1.0	1		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLT25D2	NM_015101.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	153/627	183944265	1,13005	2203	4300	6503	182210888	SO:0001583	missense	23127	exon3			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.458G>A	1.37:g.183944265C>T	ENSP00000354960:p.Arg153Gln		182210888	NM_015101	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.038285	0.54896	0.0	1.16E-4	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.60171	0.21;0.21	5.2	5.2	0.72013	.	0.068257	0.56097	D	0.000023	T	0.40145	0.1105	L	0.28115	0.83	0.47511	D	0.999449	P;B	0.50819	0.939;0.191	B;B	0.34489	0.184;0.087	T	0.37079	-0.9721	10	0.12430	T	0.62	.	19.1269	0.93388	0.0:1.0:0.0:0.0	.	153;153	F5H3T5;Q8IYK4	.;GT252_HUMAN	Q	153	ENSP00000439112:R153Q;ENSP00000354960:R153Q	ENSP00000354960:R153Q	R	-	2	0	GLT25D2	182210888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.465000	0.53064	2.583000	0.87209	0.650000	0.86243	CGA		0.423	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
FAM129A	116496	broad.mit.edu	37	1	184853808	184853808	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:184853808A>C	ENST00000367511.3	-	5	753	c.560T>G	c.(559-561)tTt>tGt	p.F187C		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	187					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.F187C(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GAGGGCACTAAACCTCTTCTG	0.602																																					p.F187C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T560G	1						.						96.0	87.0	90.0					1																	184853808		2203	4300	6503	183120431	SO:0001583	missense	116496	exon5			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.560T>G	1.37:g.184853808A>C	ENSP00000356481:p.Phe187Cys		183120431	NM_052966	Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.968605	0.53614	.	.	ENSG00000135842	ENST00000367511	T	0.17054	2.3	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.64997	1.995	0.52501	D	0.999957	D	0.89917	1.0	D	0.87578	0.998	T	0.15896	-1.0421	10	0.87932	D	0	-22.3089	12.2335	0.54500	1.0:0.0:0.0:0.0	.	187	Q9BZQ8	NIBAN_HUMAN	C	187	ENSP00000356481:F187C	ENSP00000356481:F187C	F	-	2	0	FAM129A	183120431	1.000000	0.71417	0.971000	0.41717	0.193000	0.23685	6.230000	0.72301	2.144000	0.66660	0.528000	0.53228	TTT		0.602	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1		
HMCN1	83872	broad.mit.edu	37	1	185878629	185878629	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:185878629G>A	ENST00000271588.4	+	5	1011	c.782G>A	c.(781-783)cGc>cAc	p.R261H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R261H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	261					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R261H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGAAATTCGCAATCCTTTA	0.363																																					p.R261H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G782A	1						.						99.0	93.0	95.0					1																	185878629		2203	4300	6503	184145252	SO:0001583	missense	83872	exon5			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.782G>A	1.37:g.185878629G>A	ENSP00000271588:p.Arg261His		184145252	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	5.295	0.239889	0.10023	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.15;-0.15	6.07	3.25	0.37280	.	0.464178	0.25250	N	0.032040	T	0.51584	0.1683	L	0.56769	1.78	0.43662	D	0.996084	B	0.11235	0.004	B	0.04013	0.001	T	0.35251	-0.9796	10	0.14252	T	0.57	.	7.8459	0.29424	0.4175:0.0:0.5825:0.0	.	261	Q96RW7	HMCN1_HUMAN	H	261	ENSP00000271588:R261H;ENSP00000356462:R261H	ENSP00000271588:R261H	R	+	2	0	HMCN1	184145252	0.295000	0.24389	0.998000	0.56505	0.407000	0.30961	0.552000	0.23376	0.479000	0.27511	-0.203000	0.12734	CGC		0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
PRG4	10216	broad.mit.edu	37	1	186277995	186277995	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:186277995G>A	ENST00000445192.2	+	7	3189	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	PRG4_ENST00000367483.4_Silent_p.T1007T|PRG4_ENST00000367486.3_Silent_p.T1005T|PRG4_ENST00000367485.4_Silent_p.T955T|PRG4_ENST00000367484.3_Silent_p.T577T|RNU6-1240P_ENST00000365155.1_RNA	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1048					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T1048T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACCAAAGACGACACCAACTC	0.453																																					p.T955T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2865A	1						.						169.0	180.0	176.0					1																	186277995		2203	4300	6503	184544618	SO:0001819	synonymous_variant	10216	exon5			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3144G>A	1.37:g.186277995G>A			184544618	NM_001127709	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	CCDS1369.1																																																																																				0.453	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
TPR	7175	broad.mit.edu	37	1	186289548	186289548	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:186289548G>A	ENST00000367478.4	-	46	6760	c.6464C>T	c.(6463-6465)tCg>tTg	p.S2155L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2155					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.S2142L(2)|p.S2155L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AACCTGCGGCGAACTAAATGG	0.388			T	NTRK1	papillary thyroid																																p.S2155L			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C6464T	1						.						60.0	52.0	55.0					1																	186289548		1825	4077	5902	184556171	SO:0001583	missense	7175	exon46			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6464C>T	1.37:g.186289548G>A	ENSP00000356448:p.Ser2155Leu		184556171	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930522	0.73327	.	.	ENSG00000047410	ENST00000367478	T	0.62105	0.05	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.82139	-0.0605	10	0.87932	D	0	.	18.7252	0.91711	0.0:0.0:1.0:0.0	.	2155	P12270	TPR_HUMAN	L	2155	ENSP00000356448:S2155L	ENSP00000356448:S2155L	S	-	2	0	TPR	184556171	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	8.950000	0.93019	2.421000	0.82119	0.563000	0.77884	TCG		0.388	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
TPR	7175	broad.mit.edu	37	1	186320504	186320504	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:186320504T>G	ENST00000367478.4	-	20	2864	c.2568A>C	c.(2566-2568)gaA>gaC	p.E856D	TPR_ENST00000474852.1_5'Flank	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	856					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E857D(1)|p.E856D(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCACCTCATTTTCCAACTTCT	0.383			T	NTRK1	papillary thyroid																																p.E856D			Dom	yes		1	1q25	7175	translocated promoter region		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2568C	1						.						185.0	162.0	169.0					1																	186320504		1836	4085	5921	184587127	SO:0001583	missense	7175	exon20			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2568A>C	1.37:g.186320504T>G	ENSP00000356448:p.Glu856Asp		184587127	NM_003292	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406091	0.83230	.	.	ENSG00000047410	ENST00000367478	T	0.24350	1.86	5.79	-0.468	0.12146	.	0.046236	0.85682	D	0.000000	T	0.19406	0.0466	L	0.59436	1.845	0.42006	D	0.990914	P	0.38020	0.615	B	0.29267	0.1	T	0.04153	-1.0973	10	0.44086	T	0.13	.	10.425	0.44373	0.0:0.3874:0.0:0.6126	.	856	P12270	TPR_HUMAN	D	856	ENSP00000356448:E856D	ENSP00000356448:E856D	E	-	3	2	TPR	184587127	0.931000	0.31567	0.978000	0.43139	0.965000	0.64279	0.007000	0.13174	-0.326000	0.08564	0.455000	0.32223	GAA		0.383	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
TAS1R2	80834	broad.mit.edu	37	1	19181468	19181468	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:19181468C>T	ENST00000375371.3	-	3	517	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	166					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCGCTGATGGCGCTGTAGGTG	0.637																																					p.A166T												.	.	0			c.G496A	1						.						41.0	41.0	41.0					1																	19181468		2200	4299	6499	19054055	SO:0001583	missense	80834	exon3				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.496G>A	1.37:g.19181468C>T	ENSP00000364520:p.Ala166Thr		19054055	NM_152232	Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021908	0.54576	.	.	ENSG00000179002	ENST00000375371	D	0.85556	-2.0	4.9	3.04	0.35103	Extracellular ligand-binding receptor (1);	0.000000	0.45361	D	0.000380	D	0.91600	0.7346	M	0.88512	2.96	0.43372	D	0.99546	D	0.89917	1.0	D	0.91635	0.999	D	0.89933	0.4067	10	0.72032	D	0.01	.	6.2697	0.20947	0.1629:0.7242:0.0:0.1129	.	166	Q8TE23	TS1R2_HUMAN	T	166	ENSP00000364520:A166T	ENSP00000364520:A166T	A	-	1	0	TAS1R2	19054055	0.956000	0.32656	0.987000	0.45799	0.175000	0.22909	2.075000	0.41538	0.685000	0.31468	0.491000	0.48974	GCC		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
BRINP3	339479	broad.mit.edu	37	1	190067849	190067849	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:190067849G>A	ENST00000367462.3	-	8	1831	c.1600C>T	c.(1600-1602)Ctc>Ttc	p.L534F	BRINP3_ENST00000534846.1_Missense_Mutation_p.L432F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	534				L -> F (in Ref. 3; AAD09521). {ECO:0000305}.	cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.L534F(1)									AAGGTGAGGAGCATCCGCTTA	0.453																																					p.L534F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1600T	1						.						114.0	112.0	113.0					1																	190067849		2203	4300	6503	188334472	SO:0001583	missense	339479	exon8			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1600C>T	1.37:g.190067849G>A	ENSP00000356432:p.Leu534Phe		188334472	NM_199051	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790913	0.50102	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.22134	2.22;1.97	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.70275	2.135	0.54753	D	0.999986	D;D	0.76494	0.999;0.995	D;D	0.80764	0.994;0.969	T	0.37009	-0.9724	10	0.54805	T	0.06	.	17.1831	0.86859	0.0:0.0:1.0:0.0	.	432;534	B7Z260;Q76B58	.;FAM5C_HUMAN	F	534;432	ENSP00000356432:L534F;ENSP00000438022:L432F	ENSP00000356432:L534F	L	-	1	0	FAM5C	188334472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.320000	0.72876	2.653000	0.90120	0.591000	0.81541	CTC		0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	
TROVE2	6738	broad.mit.edu	37	1	193051368	193051368	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:193051368T>G	ENST00000367446.3	+	7	1466	c.1256T>G	c.(1255-1257)aTg>aGg	p.M419R	TROVE2_ENST00000367441.1_Missense_Mutation_p.M419R|TROVE2_ENST00000367444.3_Missense_Mutation_p.M419R|TROVE2_ENST00000416058.2_Missense_Mutation_p.M144R|TROVE2_ENST00000432079.1_Missense_Mutation_p.M144R|TROVE2_ENST00000367445.3_Missense_Mutation_p.M419R|TROVE2_ENST00000400968.2_Missense_Mutation_p.M419R|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.M419R	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	419	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)	p.M419R(1)		biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TCCGATGAAATGGTACCATGT	0.348																																					p.M419R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1256G	1						.						140.0	128.0	132.0					1																	193051368		1839	4082	5921	191317991	SO:0001583	missense	6738	exon7			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1256T>G	1.37:g.193051368T>G	ENSP00000356416:p.Met419Arg		191317991	NM_001173524	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814084	0.70912	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	.	.	.	5.47	5.47	0.80525	.	0.175369	0.64402	D	0.000009	T	0.61400	0.2344	L	0.54323	1.7	0.44619	D	0.997596	P;P;P;P	0.50156	0.873;0.661;0.833;0.932	P;P;B;B	0.48425	0.577;0.452;0.287;0.442	T	0.62263	-0.6891	9	0.41790	T	0.15	-26.9358	15.846	0.78890	0.0:0.0:0.0:1.0	.	419;419;419;419	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	R	419;144;419;419;419;419;419	.	ENSP00000356411:M419R	M	+	2	0	TROVE2	191317991	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.740000	0.68629	2.190000	0.69967	0.528000	0.53228	ATG		0.348	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600	
CDC73	79577	broad.mit.edu	37	1	193099338	193099338	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:193099338G>A	ENST00000367435.3	+	3	456	c.272G>A	c.(271-273)cGa>cAa	p.R91Q		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	91			R -> P (found in a patient with isolated hyperparathyroidism and parathyroid adenomas). {ECO:0000269|PubMed:17639062}.		cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R91Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGACCTGATCGAAAAGATCTA	0.294																																					p.R91Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G272A	1	GRCh37	CM072926	CDC73	M		.						140.0	144.0	143.0					1																	193099338		2203	4300	6503	191365961	SO:0001583	missense	79577	exon3			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.272G>A	1.37:g.193099338G>A	ENSP00000356405:p.Arg91Gln		191365961	NM_024529	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351125	0.95830	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.91407	-2.84	5.62	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95648	0.8585	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96226	0.9164	10	0.87932	D	0	-10.3544	14.535	0.67953	0.0704:0.0:0.9296:0.0	.	91	Q6P1J9	CDC73_HUMAN	Q	91	ENSP00000356405:R91Q	ENSP00000356405:R91Q	R	+	2	0	CDC73	191365961	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.743000	0.98849	1.377000	0.46286	0.561000	0.74099	CGA		0.294	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	
B3GALT2	8707	broad.mit.edu	37	1	193150285	193150285	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:193150285G>T	ENST00000367434.4	-	2	1163	c.408C>A	c.(406-408)ttC>ttA	p.F136L	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	136					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.F136L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TAATATATTTGAAATGGTAAG	0.368																																					p.F136L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C408A	1						.						95.0	105.0	102.0					1																	193150285		2202	4299	6501	191416908	SO:0001583	missense	8707	exon2			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.408C>A	1.37:g.193150285G>T	ENSP00000356404:p.Phe136Leu		191416908	NM_003783	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931229	0.34096	.	.	ENSG00000162630	ENST00000367434	T	0.44083	0.93	5.26	3.38	0.38709	.	0.321152	0.35013	N	0.003509	T	0.38188	0.1031	L	0.54323	1.7	0.33709	D	0.615593	B	0.23806	0.091	B	0.29524	0.103	T	0.49341	-0.8950	10	0.62326	D	0.03	.	8.4629	0.32938	0.2988:0.0:0.7012:0.0	.	136	O43825	B3GT2_HUMAN	L	136	ENSP00000356404:F136L	ENSP00000356404:F136L	F	-	3	2	B3GALT2	191416908	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.516000	0.45520	0.704000	0.31869	0.563000	0.77884	TTC		0.368	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783	
B3GALT2	8707	broad.mit.edu	37	1	193150491	193150491	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:193150491G>A	ENST00000367434.4	-	2	957	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	68					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.R68W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TTTGTTGACCGAAATCCTCGG	0.423																																					p.R68W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C202T	1						.						144.0	136.0	139.0					1																	193150491		2203	4299	6502	191417114	SO:0001583	missense	8707	exon2			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.202C>T	1.37:g.193150491G>A	ENSP00000356404:p.Arg68Trp		191417114	NM_003783	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503068	0.26949	.	.	ENSG00000162630	ENST00000367434	T	0.49720	0.77	5.21	4.29	0.51040	.	0.328451	0.31834	N	0.007000	T	0.57227	0.2039	L	0.50333	1.59	0.53688	D	0.999971	D	0.76494	0.999	P	0.59171	0.853	T	0.61128	-0.7125	10	0.87932	D	0	.	12.598	0.56481	0.0:0.0:0.5454:0.4546	.	68	O43825	B3GT2_HUMAN	W	68	ENSP00000356404:R68W	ENSP00000356404:R68W	R	-	1	2	B3GALT2	191417114	1.000000	0.71417	0.999000	0.59377	0.001000	0.01503	4.585000	0.60977	1.299000	0.44798	-0.182000	0.12963	CGG		0.423	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783	
AKR7L	246181	broad.mit.edu	37	1	19593859	19593859	+	RNA	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:19593859C>A	ENST00000429712.1	-	0	1050				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCGTCCACGACAGCCGGCTCC	0.602																																					p.C245F												.	.	0			c.G734T	1						.						53.0	56.0	55.0					1																	19593859		2203	4300	6503	19466446			246181	exon5					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19593859C>A			19466446	NM_001145289	Q5U614	Missense_Mutation	SNP	ENST00000429712.1	37		.	.	.	.	.	.	.	.	.	.	C	14.11	2.437733	0.43224	.	.	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	T	0.25250	1.81	3.32	2.36	0.29203	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	.	.	.	0.25520	N	0.987373	D	0.89917	1.0	D	0.80764	0.994	T	0.30995	-0.9959	9	0.72032	D	0.01	.	11.2003	0.48736	0.0:0.8111:0.1889:0.0	.	311	Q8NHP1	ARK74_HUMAN	F	133;201;311;276	ENSP00000406430:V133F	ENSP00000373538:V276F	V	-	1	0	AKR7L	19466446	0.991000	0.36638	0.004000	0.12327	0.183000	0.23260	3.035000	0.49759	0.683000	0.31428	0.462000	0.41574	GTC		0.602	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252	
KCNT2	343450	broad.mit.edu	37	1	196303054	196303054	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:196303054C>T	ENST00000294725.9	-	17	2835	c.1920G>A	c.(1918-1920)tcG>tcA	p.S640S	KCNT2_ENST00000367431.4_Silent_p.S590S|KCNT2_ENST00000367433.5_Silent_p.S640S|KCNT2_ENST00000451324.2_Silent_p.S251S|KCNT2_ENST00000609185.1_Silent_p.S590S|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	640					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S640S(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTTTGAATCGATGATGTAT	0.408																																					p.S640S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1920A	1						.						161.0	148.0	152.0					1																	196303054		2203	4300	6503	194569677	SO:0001819	synonymous_variant	343450	exon17			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1920G>A	1.37:g.196303054C>T			194569677	NM_198503	Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	CCDS1384.1																																																																																				0.408	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
CFHR2	3080	broad.mit.edu	37	1	196871698	196871698	+	Intron	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:196871698A>G	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.Y69C|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.Y70C			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TACTGGGATTACATTCATTGC	0.398																																					p.Y70C												.	.	0			c.A209G	1						.						128.0	131.0	130.0					1																	196871698		2163	4291	6454	195138321	SO:0001627	intron_variant	10877	exon2			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-46887A>G	1.37:g.196871698A>G			195138321	NM_006684	Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37		.	.	.	.	.	.	.	.	.	.	.	13.53	2.265979	0.40095	.	.	ENSG00000134365	ENST00000367416;ENST00000251424	T;T	0.65364	-0.15;-0.15	3.7	-2.79	0.05841	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.70098	0.3185	M	0.81239	2.535	0.09310	N	1	D;D;D	0.76494	0.994;0.992;0.999	P;P;D	0.71870	0.905;0.908;0.975	T	0.58364	-0.7649	9	0.38643	T	0.18	.	0.705	0.00914	0.3826:0.1736:0.1064:0.3374	.	69;70;70	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	C	69;70	ENSP00000356386:Y69C;ENSP00000251424:Y70C	ENSP00000251424:Y70C	Y	+	2	0	CFHR4	195138321	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-0.015000	0.12634	-0.839000	0.04212	0.358000	0.22013	TAC		0.398	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666	
CFHR2	3080	broad.mit.edu	37	1	196883716	196883716	+	Intron	SNP	C	C	T	rs542124899		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:196883716C>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Silent_p.Y177Y|CFHR4_ENST00000367416.2_Silent_p.Y423Y|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000251424.4_Silent_p.Y177Y			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.Y177Y(1)|p.Y423Y(1)		large_intestine(2)|ovary(1)|skin(3)	6						ACGAATGCTACGATGGATATG	0.398													c|||	1	0.000199681	0.0	0.0	5008	,	,		13928	0.0		0.0	False		,,,				2504	0.001				p.Y177Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C531T	1						.						110.0	100.0	103.0					1																	196883716		1926	4162	6088	195150339	SO:0001627	intron_variant	10877	exon4			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34869C>T	1.37:g.196883716C>T			195150339	NM_006684	Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37																																																																																					0.398	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666	
CFHR5	81494	broad.mit.edu	37	1	196977766	196977766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:196977766C>T	ENST00000256785.4	+	10	1772	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	CFHR5_ENST00000367414.5_Nonsense_Mutation_p.R579*			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	555	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R555*(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCACCATTTCGAGCAATCTG	0.358																																					p.R555X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1663T	1						.						114.0	105.0	108.0					1																	196977766		2203	4300	6503	195244389	SO:0001587	stop_gained	81494	exon10			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1663C>T	1.37:g.196977766C>T	ENSP00000256785:p.Arg555*		195244389	NM_030787	Q2NKK2	Nonsense_Mutation	SNP	ENST00000256785.4	37	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159233	0.78226	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.43698	D	0.996158	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.276	0.60188	0.0:1.0:0.0:0.0	.	.	.	.	X	579;555	.	ENSP00000256785:R555X	R	+	1	2	CFHR5	195244389	0.001000	0.12720	0.213000	0.23690	0.017000	0.09413	0.362000	0.20284	2.267000	0.75376	0.561000	0.74099	CGA		0.358	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787	
ASPM	259266	broad.mit.edu	37	1	197071123	197071123	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:197071123A>G	ENST00000367409.4	-	18	7514	c.7258T>C	c.(7258-7260)Tca>Cca	p.S2420P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2420	IQ 25. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.S2420P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTAATGATCTAAACCTA	0.398																																					p.S2420P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T7258C	1						.						109.0	111.0	111.0					1																	197071123		2203	4299	6502	195337746	SO:0001583	missense	259266	exon18			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7258T>C	1.37:g.197071123A>G	ENSP00000356379:p.Ser2420Pro		195337746	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	a	14.04	2.416509	0.42918	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72167	-0.63	4.02	-0.212	0.13169	.	0.404467	0.20402	N	0.093038	T	0.75049	0.3797	M	0.64170	1.965	0.80722	D	1	D;D	0.69078	0.967;0.997	D;D	0.72338	0.977;0.968	T	0.69781	-0.5052	10	0.35671	T	0.21	.	5.1125	0.14817	0.315:0.4179:0.0:0.267	.	406;2420	E7EQ84;Q8IZT6	.;ASPM_HUMAN	P	2420;406	ENSP00000356379:S2420P	ENSP00000356376:S406P	S	-	1	0	ASPM	195337746	0.000000	0.05858	0.059000	0.19551	0.990000	0.78478	-1.136000	0.03222	0.171000	0.19730	0.456000	0.33151	TCA		0.398	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	broad.mit.edu	37	1	197071969	197071969	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:197071969T>C	ENST00000367409.4	-	18	6668	c.6412A>G	c.(6412-6414)Aca>Gca	p.T2138A	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2138	IQ 17. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.T2138A(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCTCATTGTATGGTAACTT	0.338																																					p.T2138A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6412G	1						.						153.0	150.0	151.0					1																	197071969		2203	4300	6503	195338592	SO:0001583	missense	259266	exon18			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6412A>G	1.37:g.197071969T>C	ENSP00000356379:p.Thr2138Ala		195338592	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	t	1.458	-0.563266	0.03939	.	.	ENSG00000066279	ENST00000367409	T	0.71341	-0.56	5.39	-4.16	0.03869	.	1.185540	0.06107	N	0.666480	T	0.44767	0.1309	N	0.05351	-0.065	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.22208	-1.0223	10	0.23891	T	0.37	.	6.9361	0.24466	0.0:0.4435:0.2736:0.2829	.	2138	Q8IZT6	ASPM_HUMAN	A	2138	ENSP00000356379:T2138A	ENSP00000356379:T2138A	T	-	1	0	ASPM	195338592	0.000000	0.05858	0.000000	0.03702	0.536000	0.34869	-0.761000	0.04751	-0.512000	0.06505	-0.275000	0.10095	ACA		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ASPM	259266	broad.mit.edu	37	1	197073981	197073981	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:197073981G>A	ENST00000367409.4	-	18	4656	c.4400C>T	c.(4399-4401)tCt>tTt	p.S1467F	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1467					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.S1467F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATAATAGCAGAATTTTCTTC	0.299																																					p.S1467F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4400T	1						.						66.0	63.0	64.0					1																	197073981		2200	4294	6494	195340604	SO:0001583	missense	259266	exon18			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4400C>T	1.37:g.197073981G>A	ENSP00000356379:p.Ser1467Phe		195340604	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161959	0.38217	.	.	ENSG00000066279	ENST00000367409	D	0.86694	-2.16	5.27	4.34	0.51931	.	0.428927	0.23206	N	0.050728	D	0.94019	0.8084	M	0.86864	2.845	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.94985	0.8129	10	0.87932	D	0	.	16.0535	0.80777	0.0:0.1346:0.8654:0.0	.	1467	Q8IZT6	ASPM_HUMAN	F	1467	ENSP00000356379:S1467F	ENSP00000356379:S1467F	S	-	2	0	ASPM	195340604	1.000000	0.71417	0.663000	0.29738	0.140000	0.21249	5.864000	0.69575	1.316000	0.45131	0.484000	0.47621	TCT		0.299	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ZBTB41	360023	broad.mit.edu	37	1	197169396	197169396	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:197169396T>G	ENST00000367405.4	-	1	276	c.208A>C	c.(208-210)Aat>Cat	p.N70H	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	70					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N70H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAATTCTTATTATACTGCAAA	0.358																																					p.N70H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A208C	1						.						57.0	62.0	61.0					1																	197169396		2203	4300	6503	195436019	SO:0001583	missense	360023	exon1				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.208A>C	1.37:g.197169396T>G	ENSP00000356375:p.Asn70His		195436019	NM_194314	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.777577	0.49786	.	.	ENSG00000177888	ENST00000367405	T	0.21361	2.01	4.96	4.96	0.65561	BTB/POZ fold (2);	0.000000	0.46145	D	0.000314	T	0.26557	0.0649	L	0.27053	0.805	0.36723	D	0.881279	D	0.61080	0.989	P	0.53912	0.737	T	0.25606	-1.0127	10	0.87932	D	0	.	14.6277	0.68635	0.0:0.0:0.0:1.0	.	70	Q5SVQ8	ZBT41_HUMAN	H	70	ENSP00000356375:N70H	ENSP00000356375:N70H	N	-	1	0	ZBTB41	195436019	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.348000	0.59379	1.838000	0.53458	0.254000	0.18369	AAT		0.358	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314	
CRB1	23418	broad.mit.edu	37	1	197390405	197390405	+	Missense_Mutation	SNP	G	G	A	rs146120995	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:197390405G>A	ENST00000367400.3	+	6	1582	c.1447G>A	c.(1447-1449)Gca>Aca	p.A483T	CRB1_ENST00000543483.1_Missense_Mutation_p.A182T|CRB1_ENST00000367399.2_Missense_Mutation_p.A371T|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.A483T|CRB1_ENST00000535699.1_Missense_Mutation_p.A414T|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000476483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	483					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A483T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGTGAAATCGCAACCACACT	0.498																																					p.A483T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1447A	1						.	G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	103.0	91.0	95.0		1111,1447	1.4	0.0	1	dbSNP_134	95	0,8600		0,0,4300	no	missense,missense	CRB1	NM_001193640.1,NM_201253.2	58,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	371/1295,483/1407	197390405	2,13004	2203	4300	6503	195657028	SO:0001583	missense	23418	exon6				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1447G>A	1.37:g.197390405G>A	ENSP00000356370:p.Ala483Thr		195657028	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	0.547	-0.851282	0.02651	4.54E-4	0.0	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000367401	T;T;T;T;D	0.87809	-1.21;-1.21;-1.21;-1.21;-2.3	5.82	1.4	0.22301	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.69931	0.3166	N	0.22421	0.69	0.09310	N	0.999998	P;P;B;B;P	0.41643	0.758;0.745;0.004;0.371;0.487	B;B;B;B;B	0.27500	0.074;0.08;0.002;0.039;0.037	T	0.58002	-0.7713	9	0.17832	T	0.49	.	7.0314	0.24969	0.3812:0.1201:0.4987:0.0	.	483;414;371;132;483	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	T	414;483;483;371;182;132	ENSP00000438786:A414T;ENSP00000438091:A483T;ENSP00000356370:A483T;ENSP00000356369:A371T;ENSP00000439579:A182T	ENSP00000356369:A371T	A	+	1	0	CRB1	195657028	0.000000	0.05858	0.013000	0.15412	0.000000	0.00434	-0.345000	0.07770	0.393000	0.25203	-0.781000	0.03364	GCA		0.498	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
CRB1	23418	broad.mit.edu	37	1	197390707	197390707	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:197390707C>T	ENST00000367400.3	+	6	1884	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Silent_p.I471I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.I583I|CRB1_ENST00000535699.1_Silent_p.I514I|CRB1_ENST00000544212.1_Silent_p.I64I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	583	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I583I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTACCTTAATCGACGACTCCT	0.448																																					p.I583I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1749T	1						.						117.0	114.0	115.0					1																	197390707		2203	4300	6503	195657330	SO:0001819	synonymous_variant	23418	exon6				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1749C>T	1.37:g.197390707C>T			195657330	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.448	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
CRB1	23418	broad.mit.edu	37	1	197396750	197396750	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:197396750C>T	ENST00000367400.3	+	7	2430	c.2295C>T	c.(2293-2295)gtC>gtT	p.V765V	CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Silent_p.V653V|CRB1_ENST00000367397.1_Silent_p.V146V|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.V696V|CRB1_ENST00000544212.1_Silent_p.V246V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	765	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V765V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATATCCGTGTCTGGCTAGAGC	0.428																																					p.V765V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2295T	1						.						59.0	56.0	57.0					1																	197396750		2203	4300	6503	195663373	SO:0001819	synonymous_variant	23418	exon7				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2295C>T	1.37:g.197396750C>T			195663373	NM_201253	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	CCDS1390.1																																																																																				0.428	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
PTPRC	5788	broad.mit.edu	37	1	198687383	198687383	+	Silent	SNP	C	C	T	rs150704742		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:198687383C>T	ENST00000367376.2	+	14	1776	c.1605C>T	c.(1603-1605)tgC>tgT	p.C535C	PTPRC_ENST00000352140.3_Silent_p.C487C|PTPRC_ENST00000348564.6_Silent_p.C376C|PTPRC_ENST00000442510.2_Silent_p.C537C|PTPRC_ENST00000594404.1_Silent_p.C374C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	535	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.C535C(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATAAGAATTGCGATTTCCGTG	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17603	0.0		0.0	False		,,,				2504	0.0				p.C374C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1122T	1						.	C	,	5,4401	9.9+/-24.2	0,5,2198	72.0	69.0	70.0		1605,1122	-2.9	0.0	1	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PTPRC	NM_002838.3,NM_080921.2	,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,	535/1305,374/1144	198687383	5,13001	2203	4300	6503	196954006	SO:0001819	synonymous_variant	5788	exon11			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1605C>T	1.37:g.198687383C>T			196954006	NM_080921	A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37																																																																																					0.388	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
KIF14	9928	broad.mit.edu	37	1	200573037	200573037	+	Missense_Mutation	SNP	C	C	T	rs373895990		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:200573037C>T	ENST00000367350.4	-	9	2231	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	598	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.R598Q(3)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAGGTTAATTCGACTTGTTAT	0.368																																					p.R598Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1793A	1						.						127.0	119.0	122.0					1																	200573037		2203	4300	6503	198839660	SO:0001583	missense	9928	exon9			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1793G>A	1.37:g.200573037C>T	ENSP00000356319:p.Arg598Gln		198839660	NM_014875	Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473371	0.84640	.	.	ENSG00000118193	ENST00000367350	T	0.74737	-0.87	5.31	5.31	0.75309	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.056634	0.64402	D	0.000001	T	0.78084	0.4228	L	0.31578	0.945	0.50813	D	0.999896	D	0.89917	1.0	D	0.72982	0.979	T	0.79446	-0.1800	10	0.59425	D	0.04	.	12.7829	0.57487	0.0:0.9144:0.0:0.0856	.	598	Q15058	KIF14_HUMAN	Q	598	ENSP00000356319:R598Q	ENSP00000356319:R598Q	R	-	2	0	KIF14	198839660	1.000000	0.71417	0.977000	0.42913	0.497000	0.33675	5.709000	0.68384	2.481000	0.83766	0.585000	0.79938	CGA		0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
CACNA1S	779	broad.mit.edu	37	1	201063132	201063132	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:201063132G>T	ENST00000362061.3	-	3	502	c.276C>A	c.(274-276)ttC>ttA	p.F92L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.F92L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	92					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAATGAGGAAGAAATACTCCA	0.547																																					p.F92L												.	.	0			c.C276A	1						.						87.0	87.0	87.0					1																	201063132		2203	4300	6503	199329755	SO:0001583	missense	779	exon3			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.276C>A	1.37:g.201063132G>T	ENSP00000355192:p.Phe92Leu		199329755	NM_000069	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875301	0.33162	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98280	-4.84;-4.84	4.3	4.3	0.51218	Ion transport (1);	0.197383	0.44285	D	0.000471	D	0.93664	0.7976	N	0.05510	-0.035	0.38096	D	0.937123	B	0.06786	0.001	B	0.10450	0.005	D	0.91479	0.5203	10	0.14252	T	0.57	.	17.0711	0.86573	0.0:0.0:1.0:0.0	.	92	Q13698	CAC1S_HUMAN	L	92	ENSP00000355192:F92L;ENSP00000356307:F92L	ENSP00000355192:F92L	F	-	3	2	CACNA1S	199329755	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.506000	0.66993	2.102000	0.63906	0.561000	0.74099	TTC		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
LAD1	3898	broad.mit.edu	37	1	201353948	201353948	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:201353948C>A	ENST00000391967.2	-	5	1448	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	LAD1_ENST00000367313.3_Nonsense_Mutation_p.E397*|LAD1_ENST00000488842.1_5'Flank	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	383						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)	p.E383*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCCGAGTTTTCTTTCTTGGGT	0.537																																					p.E383X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1147T	1						.						124.0	123.0	123.0					1																	201353948		2203	4300	6503	199620571	SO:0001587	stop_gained	3898	exon5			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.1147G>T	1.37:g.201353948C>A	ENSP00000375829:p.Glu383*		199620571	NM_005558	O95614|Q96GD8	Nonsense_Mutation	SNP	ENST00000391967.2	37	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233235	0.97399	.	.	ENSG00000159166	ENST00000503578;ENST00000391967;ENST00000367313	.	.	.	4.99	4.99	0.66335	.	0.540273	0.19178	N	0.120752	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-11.9876	13.7752	0.63048	0.0:1.0:0.0:0.0	.	.	.	.	X	34;383;397	.	ENSP00000356282:E397X	E	-	1	0	LAD1	199620571	0.995000	0.38212	0.338000	0.25549	0.038000	0.13279	2.099000	0.41767	2.294000	0.77228	0.561000	0.74099	GAA		0.537	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558	
IPO9	55705	broad.mit.edu	37	1	201826283	201826283	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:201826283C>A	ENST00000361565.4	+	11	1251	c.1182C>A	c.(1180-1182)ttC>ttA	p.F394L		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	394					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)	p.F394L(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGATACATTCTCCTATACTG	0.373																																					p.F394L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1182A	1						.						200.0	188.0	192.0					1																	201826283		2203	4300	6503	200092906	SO:0001583	missense	55705	exon11			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1182C>A	1.37:g.201826283C>A	ENSP00000354742:p.Phe394Leu		200092906	NM_018085	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799879	0.50208	.	.	ENSG00000198700	ENST00000361565	T	0.66638	-0.22	5.88	1.3	0.21679	Armadillo-like helical (1);Armadillo-type fold (1);	0.041708	0.85682	D	0.000000	T	0.52158	0.1717	L	0.52573	1.65	0.58432	D	0.999993	B	0.26672	0.156	B	0.24848	0.056	T	0.32587	-0.9901	10	0.10902	T	0.67	-19.6544	8.3977	0.32568	0.0:0.5498:0.0:0.4502	.	394	Q96P70	IPO9_HUMAN	L	394	ENSP00000354742:F394L	ENSP00000354742:F394L	F	+	3	2	IPO9	200092906	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.513000	0.22770	0.363000	0.24346	-0.142000	0.14014	TTC		0.373	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085	
PPP1R12B	4660	broad.mit.edu	37	1	202399863	202399863	+	Missense_Mutation	SNP	G	G	A	rs368051793		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:202399863G>A	ENST00000608999.1	+	7	1079	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.R309Q|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R309Q|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.R309Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	309					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.R309Q(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAGCTTCGAAGTGAAAAG	0.383																																					p.R309Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G926A	1						.	G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	100.0	93.0	95.0		926,926,926	5.6	1.0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PPP1R12B	NM_001167857.1,NM_001167858.1,NM_002481.3	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	309/516,309/387,309/983	202399863	1,13005	2203	4300	6503	200666486	SO:0001583	missense	4660	exon7			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.926G>A	1.37:g.202399863G>A	ENSP00000476755:p.Arg309Gln		200666486	NM_001167857	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186574	0.57909	0.0	1.16E-4	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.72051	0.89;0.91;-0.62;-0.49	5.58	5.58	0.84498	Ankyrin repeat-containing domain (1);	0.138507	0.33127	N	0.005245	T	0.82121	0.4968	M	0.73598	2.24	0.80722	D	1	B;P;D;D	0.89917	0.358;0.642;1.0;0.994	B;B;D;P	0.72625	0.043;0.316;0.978;0.652	T	0.79555	-0.1755	10	0.27785	T	0.31	.	14.4198	0.67175	0.0:0.0:0.8525:0.1475	.	309;309;309;309	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	Q	309	ENSP00000384496:R309Q;ENSP00000337897:R309Q;ENSP00000417159:R309Q;ENSP00000349206:R309Q	ENSP00000337897:R309Q	R	+	2	0	PPP1R12B	200666486	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.640000	0.54350	2.638000	0.89438	0.655000	0.94253	CGA		0.383	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	
SYT2	127833	broad.mit.edu	37	1	202574754	202574754	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:202574754C>A	ENST00000367267.1	-	2	339	c.147G>T	c.(145-147)gaG>gaT	p.E49D	SYT2_ENST00000367268.4_Missense_Mutation_p.E49D|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	49					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.E49D(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TGAATAACTTCTCCTTCAGTT	0.562																																					p.E49D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G147T	1						.						79.0	71.0	74.0					1																	202574754		2203	4300	6503	200841377	SO:0001583	missense	127833	exon2			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.147G>T	1.37:g.202574754C>A	ENSP00000356236:p.Glu49Asp		200841377	NM_177402	Q496K5|Q8NBE5	Missense_Mutation	SNP	ENST00000367267.1	37	CCDS1427.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337110	0.24253	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.37915	1.17;1.17	5.43	-10.9	0.00192	.	0.493659	0.23795	N	0.044499	T	0.18341	0.0440	N	0.21282	0.65	0.26778	N	0.96966	B	0.02656	0.0	B	0.01281	0.0	T	0.04017	-1.0984	10	0.27785	T	0.31	.	17.0896	0.86618	0.0604:0.3451:0.5452:0.0493	.	49	Q8N9I0	SYT2_HUMAN	D	49	ENSP00000356237:E49D;ENSP00000356236:E49D	ENSP00000356236:E49D	E	-	3	2	SYT2	200841377	0.000000	0.05858	0.296000	0.24974	0.551000	0.35334	-2.465000	0.00995	-1.965000	0.01010	-1.727000	0.00703	GAG		0.562	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1	NM_177402	
PPFIA4	8497	broad.mit.edu	37	1	203025587	203025587	+	Missense_Mutation	SNP	C	C	T	rs549873910		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:203025587C>T	ENST00000447715.2	+	23	2566	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W	PPFIA4_ENST00000599966.1_Missense_Mutation_p.R225W|PPFIA4_ENST00000295706.4_Missense_Mutation_p.R225W|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R438W|PPFIA4_ENST00000367240.2_Missense_Mutation_p.R710W|PPFIA4_ENST00000272198.6_Missense_Mutation_p.R225W			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	709					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.R856W(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGGACGCTGCGGCTAGAGAA	0.567													c|||	1	0.000199681	0.0	0.0	5008	,	,		18987	0.001		0.0	False		,,,				2504	0.0				p.R225W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C673T	1						.						37.0	43.0	41.0					1																	203025587		2040	4173	6213	201292210	SO:0001583	missense	8497	exon5			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2125C>T	1.37:g.203025587C>T	ENSP00000402576:p.Arg709Trp		201292210	NM_015053	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37		.	.	.	.	.	.	.	.	.	.	c	22.3	4.270193	0.80469	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	4.78	4.78	0.61160	.	0.172599	0.27531	N	0.018942	T	0.53110	0.1776	M	0.84326	2.69	0.49915	D	0.99983	D;D;D;D	0.76494	0.999;0.999;0.998;0.997	D;D;P;P	0.71184	0.927;0.972;0.858;0.726	T	0.59632	-0.7418	10	0.87932	D	0	-21.6358	14.5015	0.67724	0.1469:0.853:0.0:0.0	.	438;709;225;225	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	W	710;709;225;438;225	ENSP00000356209:R710W;ENSP00000402576:R709W;ENSP00000295706:R225W;ENSP00000400379:R438W;ENSP00000272198:R225W	ENSP00000272198:R225W	R	+	1	2	PPFIA4	201292210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.331000	0.43894	2.489000	0.83994	0.457000	0.33378	CGG		0.567	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
PPFIA4	8497	broad.mit.edu	37	1	203029425	203029425	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:203029425G>T	ENST00000447715.2	+	27	3039	c.2598G>T	c.(2596-2598)tcG>tcT	p.S866S	PPFIA4_ENST00000414050.2_Silent_p.S595S|PPFIA4_ENST00000367240.2_Silent_p.S867S|PPFIA4_ENST00000272198.6_Silent_p.S382S|PPFIA4_ENST00000599966.1_Silent_p.S382S|PPFIA4_ENST00000295706.4_Silent_p.S382S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	866	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.S1021S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCGCTCTGTCGGACACAGAGA	0.632																																					p.S382S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1146T	1						.						72.0	76.0	74.0					1																	203029425		2203	4300	6503	201296048	SO:0001819	synonymous_variant	8497	exon9			AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.2598G>T	1.37:g.203029425G>T			201296048	NM_015053	A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Silent	SNP	ENST00000447715.2	37																																																																																					0.632	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
CHI3L1	1116	broad.mit.edu	37	1	203153736	203153736	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:203153736C>G	ENST00000255409.3	-	4	407	c.282G>C	c.(280-282)ttG>ttC	p.L94F		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	94					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.L94F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTCCGACAGACAAGAGAGTCT	0.582																																					p.L94F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G282C	1						.						101.0	96.0	98.0					1																	203153736		2203	4300	6503	201420359	SO:0001583	missense	1116	exon4			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.282G>C	1.37:g.203153736C>G	ENSP00000255409:p.Leu94Phe		201420359	NM_001276	B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	CCDS1435.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928820	0.73327	.	.	ENSG00000133048	ENST00000255409	T	0.09817	2.94	5.64	4.68	0.58851	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.43919	D	0.000510	T	0.40015	0.1100	M	0.91459	3.21	0.50313	D	0.999863	D	0.89917	1.0	D	0.97110	1.0	T	0.48547	-0.9026	10	0.87932	D	0	-14.7484	11.9224	0.52799	0.0:0.9108:0.0:0.0892	.	94	P36222	CH3L1_HUMAN	F	94	ENSP00000255409:L94F	ENSP00000255409:L94F	L	-	3	2	CHI3L1	201420359	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	1.937000	0.40193	1.257000	0.44085	0.650000	0.86243	TTG		0.582	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276	
SNRPE	6635	broad.mit.edu	37	1	203831347	203831347	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:203831347A>C	ENST00000414487.2	+	2	123	c.78A>C	c.(76-78)caA>caC	p.Q26H	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_5'Flank	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	26					gene expression (GO:0010467)|hair cycle (GO:0042633)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)	p.Q26H(1)		breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATACTTACAAAATGTACGTA	0.383																																					p.Q26H	Ovarian(83;324 1318 17952 32395 39614)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A78C	1						.						138.0	127.0	130.0					1																	203831347		2203	4300	6503	202097970	SO:0001583	missense	6635	exon2			M37716	CCDS30979.1	1q32	2011-10-11			ENSG00000182004	ENSG00000182004			11161	protein-coding gene	gene with protein product		128260				1835977, 2143747	Standard	NM_003094		Approved	Sm-E	uc001hai.3	P62304	OTTHUMG00000035985	ENST00000414487.2:c.78A>C	1.37:g.203831347A>C	ENSP00000400591:p.Gln26His		202097970	NM_003094	B2R5B9|P08578|Q15498|Q5BKT2	Missense_Mutation	SNP	ENST00000414487.2	37	CCDS30979.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914188	0.72983	.	.	ENSG00000182004	ENST00000414487	T	0.48522	0.81	5.25	2.93	0.34026	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.057509	0.64402	D	0.000001	T	0.54598	0.1868	.	.	.	0.80722	D	1	P	0.49307	0.922	P	0.53266	0.722	T	0.54009	-0.8357	9	0.72032	D	0.01	.	8.1269	0.31003	0.712:0.0:0.288:0.0	.	26	P62304	RUXE_HUMAN	H	26	ENSP00000400591:Q26H	ENSP00000400591:Q26H	Q	+	3	2	SNRPE	202097970	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.172000	0.31908	0.403000	0.25479	0.402000	0.26972	CAA		0.383	SNRPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087703.1	NM_003094	
NFASC	23114	broad.mit.edu	37	1	204913521	204913521	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:204913521A>C	ENST00000401399.1	+	2	277	c.78A>C	c.(76-78)gaA>gaC	p.E26D	NFASC_ENST00000513543.1_Missense_Mutation_p.E26D|NFASC_ENST00000404907.1_Missense_Mutation_p.E26D|NFASC_ENST00000367169.4_Missense_Mutation_p.E26D|NFASC_ENST00000539706.1_Missense_Mutation_p.E26D|NFASC_ENST00000338586.6_Missense_Mutation_p.E26D|NFASC_ENST00000360049.4_Missense_Mutation_p.E26D|NFASC_ENST00000367171.4_Missense_Mutation_p.E26D|NFASC_ENST00000367170.4_Missense_Mutation_p.E26D|NFASC_ENST00000404076.1_Missense_Mutation_p.E26D|NFASC_ENST00000339876.6_Missense_Mutation_p.E26D|NFASC_ENST00000338515.6_Missense_Mutation_p.E26D|NFASC_ENST00000367172.4_Missense_Mutation_p.E26D|NFASC_ENST00000403080.1_Missense_Mutation_p.E26D			O94856	NFASC_HUMAN	neurofascin	26					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.E26D(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAGCCATCGAAATTCCTATGG	0.597																																					p.E26D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A78C	1						.						52.0	48.0	50.0					1																	204913521		2203	4300	6503	203180144	SO:0001583	missense	23114	exon1			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.78A>C	1.37:g.204913521A>C	ENSP00000385637:p.Glu26Asp		203180144	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265163	0.40095	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000505079;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;D;T;T;T	0.85629	-0.17;-0.21;-0.15;-0.15;-0.15;-0.15;-0.07;-0.05;-0.12;-0.62;-0.62;-0.18;-0.15;-2.01;-0.07;-0.05;-0.07	5.33	4.42	0.53409	.	0.000000	0.42821	D	0.000656	T	0.68760	0.3036	N	0.08118	0	0.37454	D	0.914955	B;B;B;B;B;B	0.20780	0.002;0.032;0.039;0.048;0.001;0.002	B;B;B;B;B;B	0.22386	0.011;0.006;0.027;0.039;0.009;0.006	T	0.66118	-0.6003	10	0.36615	T	0.2	.	7.4201	0.27067	0.1932:0.0:0.8068:0.0	.	26;26;128;26;26;26	O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.;.;.;.;.;.	D	26;26;26;26;26;26;26;26;26;26;26;26;26;26;26;26;26;2	ENSP00000356140:E26D;ENSP00000356139:E26D;ENSP00000356138:E26D;ENSP00000342128:E26D;ENSP00000344786:E26D;ENSP00000343509:E26D;ENSP00000438614:E26D;ENSP00000353154:E26D;ENSP00000356137:E26D;ENSP00000412161:E26D;ENSP00000384875:E26D;ENSP00000385676:E26D;ENSP00000385637:E26D;ENSP00000427586:E26D;ENSP00000384061:E26D;ENSP00000425908:E26D;ENSP00000415031:E2D	ENSP00000295776:E26D	E	+	3	2	NFASC	203180144	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.529000	0.35996	1.466000	0.48025	-0.366000	0.07423	GAA		0.597	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
NFASC	23114	broad.mit.edu	37	1	204943899	204943899	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:204943899C>T	ENST00000401399.1	+	13	1705	c.1506C>T	c.(1504-1506)gtC>gtT	p.V502V	NFASC_ENST00000513543.1_Silent_p.V513V|NFASC_ENST00000404907.1_Silent_p.V513V|NFASC_ENST00000367169.4_Silent_p.V502V|NFASC_ENST00000539706.1_Silent_p.V513V|NFASC_ENST00000338586.6_Silent_p.V502V|NFASC_ENST00000360049.4_Silent_p.V513V|NFASC_ENST00000367171.4_Silent_p.V502V|NFASC_ENST00000367170.4_Silent_p.V502V|NFASC_ENST00000404076.1_Silent_p.V496V|NFASC_ENST00000339876.6_Silent_p.V502V|NFASC_ENST00000338515.6_Silent_p.V502V|NFASC_ENST00000367172.4_Silent_p.V502V|NFASC_ENST00000403080.1_Silent_p.V502V			O94856	NFASC_HUMAN	neurofascin	502	Ig-like C2-type 5.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)		p.V502V(1)|p.V513V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACACCTGTGTCGCCACCAACA	0.527																																					p.V513V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1539T	1						.						134.0	123.0	127.0					1																	204943899		2203	4300	6503	203210522	SO:0001819	synonymous_variant	23114	exon12			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1506C>T	1.37:g.204943899C>T			203210522	NM_001160331	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456453	0.26161	.	.	ENSG00000163531	ENST00000367173	.	.	.	5.8	-5.28	0.02755	.	.	.	.	.	T	0.51398	0.1672	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53606	-0.8415	4	.	.	.	.	9.6586	0.39941	0.0:0.2397:0.4243:0.336	.	.	.	.	L	472	.	.	S	+	2	0	NFASC	203210522	0.001000	0.12720	0.902000	0.35471	0.992000	0.81027	-1.976000	0.01497	-0.770000	0.04614	0.485000	0.47835	TCG		0.527	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
PLA2G2F	64600	broad.mit.edu	37	1	20470046	20470046	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:20470046C>T	ENST00000375102.3	+	3	379	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	50					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.L93L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CTACTGTGGGCTGGGGGGCCG	0.637																																					p.L93L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C277T	1						.						79.0	70.0	73.0					1																	20470046		2203	4300	6503	20342633	SO:0001819	synonymous_variant	64600	exon3			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.277C>T	1.37:g.20470046C>T			20342633	NM_022819	Q5R385|Q8N217|Q9H506	Silent	SNP	ENST00000375102.3	37	CCDS204.2																																																																																				0.637	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819	
RBBP5	5929	broad.mit.edu	37	1	205074220	205074220	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:205074220C>T	ENST00000264515.6	-	4	436	c.295G>A	c.(295-297)Gac>Aac	p.D99N	RBBP5_ENST00000484379.1_5'UTR|RBBP5_ENST00000367164.1_Missense_Mutation_p.D99N	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	99					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.D99N(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGGTCACAGTCGCCTGAAAGA	0.453																																					p.D99N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G295A	1						.						132.0	131.0	131.0					1																	205074220		2203	4300	6503	203340843	SO:0001583	missense	5929	exon4			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.295G>A	1.37:g.205074220C>T	ENSP00000264515:p.Asp99Asn		203340843	NM_005057	A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044955	0.93685	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.58797	0.31;0.31	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	L	0.54323	1.7	0.80722	D	1	P;P;D	0.56746	0.905;0.839;0.977	B;B;B	0.40134	0.16;0.287;0.32	T	0.59862	-0.7374	10	0.44086	T	0.13	.	19.1694	0.93570	0.0:1.0:0.0:0.0	.	134;99;99	B4DMM7;Q15291-2;Q15291	.;.;RBBP5_HUMAN	N	99	ENSP00000264515:D99N;ENSP00000356132:D99N	ENSP00000264515:D99N	D	-	1	0	RBBP5	203340843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.449000	0.80643	2.689000	0.91719	0.591000	0.81541	GAC		0.453	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	NM_005057	
CDK18	5129	broad.mit.edu	37	1	205492326	205492326	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:205492326C>T	ENST00000360066.2	+	2	332	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	CDK18_ENST00000506784.1_Missense_Mutation_p.R11C|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Missense_Mutation_p.R11C	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	9							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R11C(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GAACTTTAAGCGCCGTTTCTC	0.517																																					p.R11C	Pancreas(180;489 2072 28461 40831 44265)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C31T	1						.						81.0	84.0	83.0					1																	205492326		2203	4300	6503	203758949	SO:0001583	missense	5129	exon2			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.31C>T	1.37:g.205492326C>T	ENSP00000353176:p.Arg11Cys		203758949	NM_212503	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Missense_Mutation	SNP	ENST00000360066.2	37	CCDS44300.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917966	0.73098	.	.	ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066;ENST00000443813;ENST00000419301	T;T;T;T;T	0.75050	-0.81;-0.9;-0.81;0.72;0.72	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.84624	0.5513	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.987	D	0.86075	0.1540	10	0.87932	D	0	-28.5592	12.8271	0.57726	0.1639:0.8361:0.0:0.0	.	11;11	Q07002-3;Q07002-2	.;.	C	11	ENSP00000399082:R11C;ENSP00000423665:R11C;ENSP00000353176:R11C;ENSP00000397831:R11C;ENSP00000391324:R11C	ENSP00000353176:R11C	R	+	1	0	CDK18	203758949	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	1.546000	0.36179	2.578000	0.87016	0.655000	0.94253	CGC		0.517	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596	
ELK4	2005	broad.mit.edu	37	1	205589108	205589108	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:205589108C>T	ENST00000357992.4	-	3	1405	c.1066G>A	c.(1066-1068)Gca>Aca	p.A356T	ELK4_ENST00000289703.4_Missense_Mutation_p.A356T|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	356					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.A356T(2)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GAAAAAAATGCTGGTGTAAGA	0.448			T	SLC45A3	prostate																																p.A356T			Dom	yes		1	1q32	2005	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1066A	1						.						82.0	83.0	83.0					1																	205589108		2203	4300	6503	203855731	SO:0001583	missense	2005	exon3			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.1066G>A	1.37:g.205589108C>T	ENSP00000350681:p.Ala356Thr		203855731	NM_001973	P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837067	0.71373	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.55588	1.31;0.51	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	L	0.42686	1.345	0.80722	D	1	D;D	0.63880	0.986;0.993	P;P	0.58873	0.847;0.831	T	0.61212	-0.7108	10	0.49607	T	0.09	.	18.8601	0.92268	0.0:1.0:0.0:0.0	.	356;356	P28324-2;P28324	.;ELK4_HUMAN	T	446;356;356	ENSP00000350681:A356T;ENSP00000289703:A356T	ENSP00000289703:A356T	A	-	1	0	ELK4	203855731	1.000000	0.71417	0.990000	0.47175	0.384000	0.30261	6.862000	0.75484	2.813000	0.96785	0.655000	0.94253	GCA		0.448	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795	
RAB29	8934	broad.mit.edu	37	1	205740743	205740743	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:205740743G>A	ENST00000367139.3	-	4	538	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RAB7L1_ENST00000446390.2_Missense_Mutation_p.R55W|RAB7L1_ENST00000437324.2_Missense_Mutation_p.R7W|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R79W|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R79W	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		79					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R79W(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAGGCATCCCGATAATACAAT	0.522																																					p.R79W	Pancreas(25;658 872 27763 34889 38531)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C235T	1						.						162.0	144.0	150.0					1																	205740743		2203	4300	6503	204007366	SO:0001583	missense	8934	exon4																														ENST00000367139.3:c.235C>T	1.37:g.205740743G>A	ENSP00000356107:p.Arg79Trp		204007366	NM_001135662	B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615555	0.66672	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000437324;ENST00000446390;ENST00000414729	D;D;T;D;D	0.82526	-1.62;-1.62;-0.71;-1.62;-1.62	5.27	4.33	0.51752	Small GTP-binding protein domain (1);	0.068633	0.56097	D	0.000037	D	0.93242	0.7847	H	0.96518	3.835	0.37089	D	0.899368	D;D	0.89917	0.999;1.0	D;D	0.83275	0.96;0.996	D	0.95394	0.8484	10	0.87932	D	0	-15.5917	11.2968	0.49282	0.0:0.0:0.6007:0.3993	.	55;79	B4E1K3;O14966	.;RAB7L_HUMAN	W	79;79;7;55;79	ENSP00000356107:R79W;ENSP00000235932:R79W;ENSP00000416613:R7W;ENSP00000389899:R55W;ENSP00000402910:R79W	ENSP00000235932:R79W	R	-	1	2	RAB7L1	204007366	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	2.898000	0.48672	1.146000	0.42352	0.305000	0.20034	CGG		0.522	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1		
SLC26A9	115019	broad.mit.edu	37	1	205899084	205899084	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:205899084G>A	ENST00000367135.3	-	6	766	c.653C>T	c.(652-654)tCg>tTg	p.S218L	SLC26A9_ENST00000367134.2_Missense_Mutation_p.S218L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S218L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	218					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.S218L(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTTGAGCACCGAAATCAGGAT	0.582																																					p.S218L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C653T	1						.						77.0	68.0	71.0					1																	205899084		2203	4300	6503	204165707	SO:0001583	missense	115019	exon6			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.653C>T	1.37:g.205899084G>A	ENSP00000356103:p.Ser218Leu		204165707	NM_134325	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331039	0.95733	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93547	-3.24;-3.24;-3.24	5.6	5.6	0.85130	Sulphate transporter (1);	0.000000	0.64402	D	0.000001	D	0.97514	0.9186	M	0.91038	3.17	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.976;0.991	D	0.98093	1.0410	10	0.87932	D	0	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	218;218	Q7LBE3;B1AVM8	S26A9_HUMAN;.	L	218	ENSP00000341682:S218L;ENSP00000356103:S218L;ENSP00000356102:S218L	ENSP00000341682:S218L	S	-	2	0	SLC26A9	204165707	1.000000	0.71417	0.985000	0.45067	0.822000	0.46500	9.773000	0.98989	2.653000	0.90120	0.561000	0.74099	TCG		0.582	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934	
C1orf186	440712	broad.mit.edu	37	1	206241649	206241649	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:206241649G>A	ENST00000331555.5	-	4	778	c.140C>T	c.(139-141)gCg>gTg	p.A47V		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	47						integral component of membrane (GO:0016021)		p.A47E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GAGACTGGCCGCTTTCAGTAT	0.552																																					p.A47V												.	.	1	Substitution - Missense(1)	lung(1)	c.C140T	1						.						59.0	59.0	59.0					1																	206241649		2203	4300	6503	204408272	SO:0001583	missense	440712	exon4			AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.140C>T	1.37:g.206241649G>A	ENSP00000356093:p.Ala47Val		204408272	NM_001007544		Missense_Mutation	SNP	ENST00000331555.5	37	CCDS30995.1	.	.	.	.	.	.	.	.	.	.	G	8.472	0.857664	0.17178	.	.	ENSG00000196533	ENST00000331555	.	.	.	2.91	-3.72	0.04411	.	.	.	.	.	T	0.16854	0.0405	N	0.19112	0.55	0.09310	N	1	B	0.19935	0.04	B	0.13407	0.009	T	0.17745	-1.0359	8	0.37606	T	0.19	-24.4287	1.4066	0.02282	0.1329:0.2523:0.3591:0.2557	.	47	Q6ZWK4	CA186_HUMAN	V	47	.	ENSP00000356093:A47V	A	-	2	0	C1orf186	204408272	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.180000	0.03088	-0.941000	0.03700	-1.097000	0.02148	GCG		0.552	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544	
CTSE	1510	broad.mit.edu	37	1	206317631	206317631	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:206317631G>A	ENST00000358184.2	+	1	173	c.55G>A	c.(55-57)Gga>Aga	p.G19R	CTSE_ENST00000360218.2_Missense_Mutation_p.G19R|CTSE_ENST00000361052.3_Missense_Mutation_p.G19R|CTSE_ENST00000432969.2_5'UTR	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	19					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.G19R(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGAGGCCCAAGGATCCCTTCA	0.587																																					p.G19R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G55A	1						.						135.0	116.0	123.0					1																	206317631		2203	4300	6503	204484254	SO:0001583	missense	1510	exon1			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.55G>A	1.37:g.206317631G>A	ENSP00000350911:p.Gly19Arg		204484254	NM_001910	Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	ENST00000358184.2	37	CCDS1462.1	.	.	.	.	.	.	.	.	.	.	G	7.630	0.678585	0.14841	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218	T;T;T	0.58358	0.34;0.34;0.61	4.79	0.833	0.18875	.	1.968160	0.02050	N	0.049976	T	0.52869	0.1761	M	0.78801	2.425	0.19775	N	0.999952	B;B	0.23891	0.093;0.039	B;B	0.24006	0.05;0.031	T	0.08659	-1.0711	10	0.25751	T	0.34	.	4.1788	0.10365	0.285:0.1706:0.5443:0.0	.	19;19	P14091-2;P14091-1	.;.	R	19	ENSP00000350911:G19R;ENSP00000354337:G19R;ENSP00000353350:G19R	ENSP00000350911:G19R	G	+	1	0	CTSE	204484254	0.018000	0.18449	0.015000	0.15790	0.942000	0.58702	0.757000	0.26433	-0.002000	0.14469	0.650000	0.86243	GGA		0.587	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000087998.1	NM_001910	
DYRK3	8444	broad.mit.edu	37	1	206821627	206821627	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:206821627G>A	ENST00000367109.2	+	3	1252	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.E342K|DYRK3_ENST00000367106.1_Missense_Mutation_p.E342K	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	362	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.E327K(1)|p.E362K(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGCTGTTTCGAGTACCAGAA	0.448																																					p.E362K	Melanoma(164;427 2622 26826 51707)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1084A	1						.						87.0	95.0	93.0					1																	206821627		2203	4300	6503	204888250	SO:0001583	missense	8444	exon3			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1084G>A	1.37:g.206821627G>A	ENSP00000356076:p.Glu362Lys		204888250	NM_003582	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737141	0.69304	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.64991	-0.13;-0.13;-0.13	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096478	0.64402	D	0.000001	T	0.72518	0.3470	L	0.41356	1.27	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.69654	0.965;0.58	T	0.74303	-0.3709	10	0.72032	D	0.01	.	18.1141	0.89545	0.0:0.0:1.0:0.0	.	362;342	O43781;O43781-2	DYRK3_HUMAN;.	K	362;342;342	ENSP00000356076:E362K;ENSP00000356075:E342K;ENSP00000356073:E342K	ENSP00000356073:E342K	E	+	1	0	DYRK3	204888250	1.000000	0.71417	0.990000	0.47175	0.863000	0.49368	9.647000	0.98478	2.760000	0.94817	0.549000	0.68633	GAG		0.448	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582	
MAPKAPK2	9261	broad.mit.edu	37	1	206902749	206902749	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:206902749G>A	ENST00000367103.3	+	4	686	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.E165K	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.E165K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AGAAGCATCCGAAATCATGAA	0.512																																					p.E165K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G493A	1						.						226.0	212.0	217.0					1																	206902749		2203	4300	6503	204969372	SO:0001583	missense	9261	exon4			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.493G>A	1.37:g.206902749G>A	ENSP00000356070:p.Glu165Lys		204969372	NM_032960	Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	ENST00000367103.3	37	CCDS31001.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826534	0.50739	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.63580	-0.05;-0.05	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.39064	0.1064	N	0.04297	-0.235	0.58432	D	0.999999	B;P	0.46457	0.13;0.878	B;B	0.35312	0.026;0.2	T	0.46843	-0.9162	9	0.36615	T	0.2	-15.8355	18.0759	0.89427	0.0:0.0:1.0:0.0	.	165;165	P49137;P49137-2	MAPK2_HUMAN;.	K	165	ENSP00000294981:E165K;ENSP00000356070:E165K	ENSP00000294981:E165K	E	+	1	0	MAPKAPK2	204969372	1.000000	0.71417	0.993000	0.49108	0.329000	0.28539	4.118000	0.57884	2.607000	0.88179	0.655000	0.94253	GAA		0.512	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759	
IL20	50604	broad.mit.edu	37	1	207039324	207039324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:207039324C>T	ENST00000367098.1	+	2	490	c.127C>T	c.(127-129)Cga>Tga	p.R43*	IL20_ENST00000391930.2_Nonsense_Mutation_p.R43*|IL20_ENST00000367096.3_Nonsense_Mutation_p.R43*			Q9UHF5	IL17B_HUMAN	interleukin 20	136					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.R43*(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TCAGGAAATACGAAATGGATT	0.473																																					p.R43X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C127T	1						.						97.0	96.0	97.0					1																	207039324		2203	4300	6503	205105947	SO:0001587	stop_gained	50604	exon1			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.127C>T	1.37:g.207039324C>T	ENSP00000356065:p.Arg43*		205105947	NM_018724	Q14CE5	Nonsense_Mutation	SNP	ENST00000367098.1	37	CCDS1470.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492831	0.84962	.	.	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	.	.	.	4.56	1.3	0.21679	.	0.285624	0.32372	N	0.006199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.3846	6.5322	0.22334	0.3904:0.4397:0.1699:0.0	.	.	.	.	X	43	.	ENSP00000356063:R43X	R	+	1	2	IL20	205105947	0.530000	0.26330	0.043000	0.18650	0.915000	0.54546	0.769000	0.26604	0.529000	0.28599	0.655000	0.94253	CGA		0.473	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724	
CR2	1380	broad.mit.edu	37	1	207642169	207642169	+	Missense_Mutation	SNP	G	G	A	rs147633291		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:207642169G>A	ENST00000367058.3	+	4	848	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	CR2_ENST00000367057.3_Missense_Mutation_p.R220Q|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.R220Q|CR2_ENST00000367059.3_Missense_Mutation_p.R220Q	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	220	Sushi 4. {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)	p.R220Q(1)		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						TCTCTAGGACGATTTCCCAAT	0.393																																					p.R220Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G659A	1						.	G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	93.0	88.0	90.0		659,659	-9.1	0.0	1	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CR2	NM_001006658.2,NM_001877.4	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	220/1093,220/1034	207642169	1,13005	2203	4300	6503	205708792	SO:0001583	missense	1380	exon4			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.659G>A	1.37:g.207642169G>A	ENSP00000356025:p.Arg220Gln		205708792	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	1.167	-0.642087	0.03531	0.0	1.16E-4	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.36	-9.12	0.00707	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.29288	0.0729	N	0.10945	0.07	0.09310	N	1	B;B;B	0.24721	0.017;0.014;0.11	B;B;B	0.17722	0.019;0.007;0.011	T	0.13953	-1.0490	9	0.15066	T	0.55	.	4.7457	0.13036	0.5896:0.2109:0.1132:0.0863	.	220;220;220	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Q	220	ENSP00000356025:R220Q;ENSP00000356024:R220Q;ENSP00000356026:R220Q;ENSP00000404222:R220Q	ENSP00000356024:R220Q	R	+	2	0	CR2	205708792	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.495000	0.06443	-1.739000	0.01347	0.462000	0.41574	CGA		0.393	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
CR2	1380	broad.mit.edu	37	1	207644348	207644348	+	Missense_Mutation	SNP	C	C	T	rs545091003		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:207644348C>T	ENST00000367058.3	+	8	1598	c.1409C>T	c.(1408-1410)gCg>gTg	p.A470V	CR2_ENST00000367057.3_Missense_Mutation_p.A470V|CR2_ENST00000458541.2_Missense_Mutation_p.A470V|CR2_ENST00000367059.3_Missense_Mutation_p.A470V	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	470	Sushi 8. {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)	p.A470V(1)		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						TTAGTGGCAGCGTGTGAAGCT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		21703	0.0		0.0	False		,,,				2504	0.001				p.A470V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1409T	1						.						136.0	134.0	134.0					1																	207644348		2203	4300	6503	205710971	SO:0001583	missense	1380	exon8			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.1409C>T	1.37:g.207644348C>T	ENSP00000356025:p.Ala470Val		205710971	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	5.697	0.313202	0.10789	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.89	0.869	0.19096	Sushi/SCR/CCP (1);	.	.	.	.	T	0.50086	0.1595	N	0.08118	0	0.09310	N	0.999994	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.08055	0.001;0.002;0.003	T	0.36187	-0.9758	9	0.38643	T	0.18	.	5.5182	0.16918	0.4839:0.3429:0.0:0.1732	.	470;470;470	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	V	470	ENSP00000356025:A470V;ENSP00000356024:A470V;ENSP00000356026:A470V;ENSP00000404222:A470V	ENSP00000356024:A470V	A	+	2	0	CR2	205710971	0.436000	0.25586	0.934000	0.37439	0.017000	0.09413	0.416000	0.21198	0.396000	0.25283	-1.466000	0.01016	GCG		0.438	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
CR1L	1379	broad.mit.edu	37	1	207851610	207851610	+	Silent	SNP	C	C	T	rs374070385	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:207851610C>T	ENST00000508064.2	+	3	405	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	115	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.F115F(1)|p.F123F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACATCCAGTTCAGATCCCAAA	0.408													N|||	5	0.000998403	0.0	0.0	5008	,	,		22111	0.003		0.001	False		,,,				2504	0.001				p.F115F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C345T	1						.						157.0	148.0	151.0					1																	207851610		1875	4126	6001	205918233	SO:0001819	synonymous_variant	1379	exon3			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.345C>T	1.37:g.207851610C>T			205918233	NM_175710	Q32MC9|Q8NEU7	Silent	SNP	ENST00000508064.2	37	CCDS44310.1																																																																																				0.408	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	
CR1L	1379	broad.mit.edu	37	1	207890871	207890871	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:207890871G>T	ENST00000508064.2	+	11	1537	c.1477G>T	c.(1477-1479)Gat>Tat	p.D493Y		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	493	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.D493Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCCCTTGGAGATATTCCCTA	0.453																																					p.D493Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1477T	1						.						118.0	109.0	112.0					1																	207890871		1864	4093	5957	205957494	SO:0001583	missense	1379	exon11			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1477G>T	1.37:g.207890871G>T	ENSP00000421736:p.Asp493Tyr		205957494	NM_175710	Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	.	1.003	-0.690179	0.03303	.	.	ENSG00000197721	ENST00000508064	T	0.63913	-0.07	3.01	-6.02	0.02192	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65450	0.2692	M	0.67953	2.075	0.09310	N	1	P	0.48834	0.916	P	0.57152	0.814	T	0.62134	-0.6918	9	0.56958	D	0.05	.	5.735	0.18061	0.5296:0.1438:0.3266:0.0	.	493	Q2VPA4	CR1L_HUMAN	Y	493	ENSP00000421736:D493Y	ENSP00000421736:D493Y	D	+	1	0	CR1L	205957494	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.057000	0.11768	-1.704000	0.01407	0.305000	0.20034	GAT		0.453	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735	
LAMB3	3914	broad.mit.edu	37	1	209803114	209803114	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:209803114C>T	ENST00000356082.4	-	10	1234	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	LAMB3_ENST00000391911.1_Missense_Mutation_p.R367H|LAMB3_ENST00000367030.3_Missense_Mutation_p.R367H	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	367	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R367H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCTCCCGGGCGCCGGTTCCG	0.572																																					p.R367H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1100A	1						.						72.0	76.0	75.0					1																	209803114		2203	4300	6503	207869737	SO:0001583	missense	3914	exon9			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1100G>A	1.37:g.209803114C>T	ENSP00000348384:p.Arg367His		207869737	NM_001017402	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557826	0.65425	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.61980	0.06;0.06;0.06	5.26	4.35	0.52113	EGF-like, laminin (4);	0.106561	0.64402	D	0.000003	T	0.79246	0.4413	M	0.82716	2.605	0.35750	D	0.819371	D	0.89917	1.0	D	0.77557	0.99	D	0.85312	0.1079	10	0.49607	T	0.09	.	13.5171	0.61547	0.0:0.9235:0.0:0.0765	.	367	Q13751	LAMB3_HUMAN	H	367	ENSP00000375778:R367H;ENSP00000348384:R367H;ENSP00000355997:R367H	ENSP00000348384:R367H	R	-	2	0	LAMB3	207869737	0.891000	0.30450	0.936000	0.37596	0.560000	0.35617	1.624000	0.37018	1.237000	0.43756	-0.268000	0.10319	CGC		0.572	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
IRF6	3664	broad.mit.edu	37	1	209969798	209969798	+	Missense_Mutation	SNP	C	C	T	rs121434224		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:209969798C>T	ENST00000367021.3	-	4	446	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	92					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E92K(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGGTTGAATTCTCTGCTCTTA	0.532										HNSCC(57;0.16)																											p.E92K												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.G274A	1	GRCh37	CM022390	IRF6	M	rs121434224	.						118.0	101.0	107.0					1																	209969798		2203	4300	6503	208036421	SO:0001583	missense	3664	exon4			AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.274G>A	1.37:g.209969798C>T	ENSP00000355988:p.Glu92Lys		208036421	NM_006147	B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	C	35	5.490586	0.96339	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.97924	-4.61;-4.61	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.98614	1.0664	9	.	.	.	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	92	O14896	IRF6_HUMAN	K	92	ENSP00000355988:E92K;ENSP00000403855:E92K	.	E	-	1	0	IRF6	208036421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.616000	0.67709	2.652000	0.90054	0.655000	0.94253	GAA		0.532	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	
DIEXF	27042	broad.mit.edu	37	1	210004240	210004240	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:210004240G>A	ENST00000491415.2	+	3	297	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	80					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K80K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTACATTAAAGAATGTTTCTg	0.423																																					p.K80K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G240A	1						.						88.0	83.0	85.0					1																	210004240		2203	4300	6503	208070863	SO:0001819	synonymous_variant	27042	exon3			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.240G>A	1.37:g.210004240G>A			208070863	NM_014388	O75992|Q4VY00|Q63HL9	Silent	SNP	ENST00000491415.2	37	CCDS1493.1																																																																																				0.423	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388	
PINK1	65018	broad.mit.edu	37	1	20972169	20972169	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:20972169C>T	ENST00000321556.4	+	5	1170	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.A359V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGGGCATCGCGCACAGAGAC	0.607																																					p.A359V	Esophageal Squamous(145;853 1803 8146 34412 35011)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1076T	1						.						81.0	69.0	73.0					1																	20972169		2203	4300	6503	20844756	SO:0001583	missense	65018	exon5			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1076C>T	1.37:g.20972169C>T	ENSP00000364204:p.Ala359Val		20844756	NM_032409	Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	CCDS211.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949995	0.92660	.	.	ENSG00000158828	ENST00000321556	T	0.70749	-0.51	6.04	6.04	0.98038	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049037	0.85682	D	0.000000	T	0.74261	0.3693	N	0.25094	0.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69892	-0.5022	10	0.24483	T	0.36	-3.0178	16.0793	0.80989	0.0:1.0:0.0:0.0	.	52;359	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	V	359	ENSP00000364204:A359V	ENSP00000364204:A359V	A	+	2	0	PINK1	20844756	1.000000	0.71417	0.855000	0.33649	0.699000	0.40488	6.771000	0.74996	2.873000	0.98535	0.561000	0.74099	GCG		0.607	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409	
DIEXF	27042	broad.mit.edu	37	1	210010440	210010440	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:210010440A>C	ENST00000491415.2	+	6	1003	c.946A>C	c.(946-948)Aat>Cat	p.N316H		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	316					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.N316H(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GCATGTGATAAATCACATCCT	0.488																																					p.N316H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A946C	1						.						57.0	52.0	54.0					1																	210010440		2203	4300	6503	208077063	SO:0001583	missense	27042	exon6			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.946A>C	1.37:g.210010440A>C	ENSP00000419005:p.Asn316His		208077063	NM_014388	O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027359	0.75390	.	.	ENSG00000117597	ENST00000491415	T	0.60797	0.16	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.82852	0.5127	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87830	0.2644	10	0.87932	D	0	-28.0362	16.1667	0.81768	1.0:0.0:0.0:0.0	.	316	Q68CQ4	DIEXF_HUMAN	H	316	ENSP00000419005:N316H	ENSP00000419005:N316H	N	+	1	0	DIEXF	208077063	1.000000	0.71417	0.244000	0.24202	0.595000	0.36748	8.894000	0.92506	2.210000	0.71456	0.533000	0.62120	AAT		0.488	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388	
SERTAD4	56256	broad.mit.edu	37	1	210415585	210415585	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:210415585G>T	ENST00000367012.3	+	4	1204	c.974G>T	c.(973-975)aGa>aTa	p.R325I		NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	325						nucleus (GO:0005634)		p.R325I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TATAATGAAAGAAACAATGTA	0.418																																					p.R325I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G974T	1						.						60.0	61.0	61.0					1																	210415585		2203	4300	6503	208482208	SO:0001583	missense	56256	exon4			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.974G>T	1.37:g.210415585G>T	ENSP00000355979:p.Arg325Ile		208482208	NM_019605	B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752370	0.31046	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.95	2.52	0.30459	.	0.222745	0.38005	N	0.001852	T	0.34571	0.0902	N	0.19112	0.55	0.47862	D	0.999532	B	0.26258	0.145	B	0.25759	0.063	T	0.12426	-1.0548	9	0.87932	D	0	-7.6596	7.8063	0.29204	0.7454:0.0:0.2546:0.0	.	325	Q9NUC0	SRTD4_HUMAN	I	325	.	ENSP00000355979:R325I	R	+	2	0	SERTAD4	208482208	1.000000	0.71417	0.024000	0.17045	0.952000	0.60782	1.615000	0.36922	0.205000	0.20568	0.655000	0.94253	AGA		0.418	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605	
EIF4G3	8672	broad.mit.edu	37	1	21186970	21186970	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:21186970G>T	ENST00000264211.8	-	18	3178	c.2984C>A	c.(2983-2985)aCt>aAt	p.T995N	EIF4G3_ENST00000536266.1_Missense_Mutation_p.T599N|EIF4G3_ENST00000400422.1_Missense_Mutation_p.T995N|EIF4G3_ENST00000374935.3_Missense_Mutation_p.T715N|EIF4G3_ENST00000537738.1_Missense_Mutation_p.T485N|EIF4G3_ENST00000374937.3_Missense_Mutation_p.T1001N|EIF4G3_ENST00000602326.1_Missense_Mutation_p.T1001N	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	995	eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.T1001N(1)|p.T995N(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTGTTCGATAGTTTTAGGCCC	0.383																																					p.T995N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2984A	1						.						190.0	169.0	176.0					1																	21186970		2203	4300	6503	21059557	SO:0001583	missense	8672	exon19			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2984C>A	1.37:g.21186970G>T	ENSP00000264211:p.Thr995Asn		21059557	NM_003760	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639223	0.87760	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.13901	3.12;3.12;2.96;2.55;3.11;2.79	5.51	4.58	0.56647	.	0.161569	0.56097	D	0.000037	T	0.38054	0.1026	M	0.73430	2.235	0.80722	D	1	D;D;D;D;P	0.76494	0.998;0.999;0.993;0.961;0.885	P;D;D;B;P	0.70016	0.886;0.958;0.967;0.36;0.47	T	0.35226	-0.9797	10	0.87932	D	0	-3.7805	16.2363	0.82377	0.0:0.133:0.867:0.0	.	1190;715;599;1001;995	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	N	995;1191;995;715;485;1001;599	ENSP00000264211:T995N;ENSP00000383274:T995N;ENSP00000364071:T715N;ENSP00000442010:T485N;ENSP00000364073:T1001N;ENSP00000444693:T599N	ENSP00000264211:T995N	T	-	2	0	EIF4G3	21059557	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.828000	0.99408	1.303000	0.44873	0.650000	0.86243	ACT		0.383	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760	
DTL	51514	broad.mit.edu	37	1	212274119	212274119	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:212274119A>C	ENST00000366991.4	+	14	2101	c.1787A>C	c.(1786-1788)gAa>gCa	p.E596A	DTL_ENST00000475419.1_3'UTR|RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000542077.1_Missense_Mutation_p.E554A	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	596					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E596A(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GGTAACCAGGAAGACCTTAGT	0.453																																					p.E596A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1787C	1						.						121.0	118.0	119.0					1																	212274119		2203	4300	6503	210340742	SO:0001583	missense	51514	exon14			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1787A>C	1.37:g.212274119A>C	ENSP00000355958:p.Glu596Ala		210340742	NM_016448	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942545	0.34283	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.72505	-0.6;-0.66	5.43	4.28	0.50868	.	0.257811	0.41001	D	0.000974	T	0.54398	0.1856	N	0.19112	0.55	0.27098	N	0.962684	B;B;B	0.30236	0.274;0.179;0.179	B;B;B	0.33254	0.16;0.084;0.052	T	0.53129	-0.8482	10	0.54805	T	0.06	-16.3406	8.2041	0.31443	0.8055:0.0:0.1945:0.0	.	554;596;554	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	A	596;554;275	ENSP00000355958:E596A;ENSP00000443870:E554A	ENSP00000355958:E596A	E	+	2	0	DTL	210340742	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	2.485000	0.45250	2.279000	0.76181	0.533000	0.62120	GAA		0.453	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1	NM_016448	
FAM71A	149647	broad.mit.edu	37	1	212799468	212799468	+	Missense_Mutation	SNP	G	G	A	rs535062338		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:212799468G>A	ENST00000294829.3	+	1	1680	c.1249G>A	c.(1249-1251)Gct>Act	p.A417T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	417						nucleus (GO:0005634)		p.A417T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCAGGCCAGCGCTGAAGGCTG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19740	0.0		0.0	False		,,,				2504	0.0				p.A417T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1249A	1						.						52.0	59.0	57.0					1																	212799468		2203	4300	6503	210866091	SO:0001583	missense	149647	exon1				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1249G>A	1.37:g.212799468G>A	ENSP00000294829:p.Ala417Thr		210866091	NM_153606	Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	7.485	0.649406	0.14516	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03801	3.8	4.06	-0.714	0.11219	.	.	.	.	.	T	0.02418	0.0074	N	0.20685	0.6	0.09310	N	1	B	0.25850	0.136	B	0.12156	0.007	T	0.47724	-0.9095	9	0.08179	T	0.78	0.0	5.5052	0.16850	0.3033:0.1466:0.5501:0.0	.	417	Q8IYT1	FA71A_HUMAN	T	417;192	ENSP00000294829:A417T	ENSP00000294829:A417T	A	+	1	0	FAM71A	210866091	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.530000	0.02221	0.079000	0.16929	0.655000	0.94253	GCT		0.612	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606	
TATDN3	128387	broad.mit.edu	37	1	212988455	212988455	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:212988455C>T	ENST00000366974.4	+	10	876	c.782C>T	c.(781-783)gCa>gTa	p.A261V	TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.A268V|TATDN3_ENST00000526997.1_3'UTR|TATDN3_ENST00000366973.4_Missense_Mutation_p.A260V|TATDN3_ENST00000531963.1_3'UTR|TATDN3_ENST00000526641.1_Missense_Mutation_p.A240V	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	261					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.A261V(1)		endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		ACACAGAATGCATTAAAACTG	0.413																																					p.A268V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C803T	1						.						110.0	109.0	110.0					1																	212988455		2203	4300	6503	211055078	SO:0001583	missense	128387	exon10			AL832248	CCDS31019.1, CCDS41465.1, CCDS53475.1, CCDS53476.1, CCDS53477.1	1q32.3	2008-02-05			ENSG00000203705	ENSG00000203705			27010	protein-coding gene	gene with protein product							Standard	NM_001042552		Approved		uc001hjo.2	Q17R31	OTTHUMG00000036805	ENST00000366974.4:c.782C>T	1.37:g.212988455C>T	ENSP00000355941:p.Ala261Val		211055078	NM_001146171	A6NGS3|B7Z1C1|B7Z978|B7ZLQ6|E9PJE5|E9PNH3|G3V151|Q4G0L1	Missense_Mutation	SNP	ENST00000366974.4	37	CCDS31019.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005267	0.93287	.	.	ENSG00000203705	ENST00000532324;ENST00000366974;ENST00000526641;ENST00000366973	.	.	.	5.17	5.17	0.71159	.	0.104833	0.64402	D	0.000004	T	0.79650	0.4482	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.997;1.0;0.999;1.0	D;D;D;D;D	0.76071	0.921;0.986;0.978;0.95;0.987	T	0.80812	-0.1215	9	0.49607	T	0.09	-22.2823	17.4761	0.87659	0.0:1.0:0.0:0.0	.	208;240;268;260;261	B7Z2Z9;E9PNH3;G3V151;Q17R31-2;Q17R31	.;.;.;.;TATD3_HUMAN	V	268;261;240;260	.	ENSP00000355940:A260V	A	+	2	0	TATDN3	211055078	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	6.553000	0.73918	2.413000	0.81919	0.467000	0.42956	GCA		0.413	TATDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089396.2	XM_375838	
ANGEL2	90806	broad.mit.edu	37	1	213178594	213178594	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:213178594G>A	ENST00000366962.3	-	5	1069	c.915C>T	c.(913-915)tgC>tgT	p.C305C	ANGEL2_ENST00000544555.1_Silent_p.C136C|ANGEL2_ENST00000535388.1_Silent_p.C136C|ANGEL2_ENST00000540642.1_Silent_p.C179C|ANGEL2_ENST00000360506.2_Silent_p.C136C	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	305								p.C305C(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATTTGCTACGCAGATTGCAG	0.448																																					p.C305C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C915T	1						.						105.0	96.0	99.0					1																	213178594		2203	4300	6503	211245217	SO:0001819	synonymous_variant	90806	exon5			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.915C>T	1.37:g.213178594G>A			211245217	NM_144567	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	CCDS1512.1																																																																																				0.448	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
ANGEL2	90806	broad.mit.edu	37	1	213178703	213178703	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:213178703T>C	ENST00000366962.3	-	5	960	c.806A>G	c.(805-807)aAc>aGc	p.N269S	ANGEL2_ENST00000544555.1_Missense_Mutation_p.N100S|ANGEL2_ENST00000535388.1_Missense_Mutation_p.N100S|ANGEL2_ENST00000540642.1_Missense_Mutation_p.N143S|ANGEL2_ENST00000360506.2_Missense_Mutation_p.N100S	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	269								p.N269S(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTCCACTGGGTTCACTGACAA	0.423																																					p.N269S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A806G	1						.						106.0	111.0	109.0					1																	213178703		2203	4300	6503	211245326	SO:0001583	missense	90806	exon5			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.806A>G	1.37:g.213178703T>C	ENSP00000355929:p.Asn269Ser		211245326	NM_144567	B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	T	3.029	-0.200069	0.06219	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	T;D;D;T;D	0.94966	-1.38;-3.57;-3.57;-1.38;-3.57	5.31	3.02	0.34903	Endonuclease/exonuclease/phosphatase (2);	0.136248	0.64402	N	0.000004	D	0.84920	0.5579	N	0.21373	0.66	0.40607	D	0.981639	B;B	0.22683	0.004;0.073	B;B	0.20577	0.016;0.03	T	0.73773	-0.3877	10	0.02654	T	1	-16.1078	4.9192	0.13862	0.0:0.2263:0.147:0.6267	.	143;269	F5H476;Q5VTE6	.;ANGE2_HUMAN	S	269;100;100;143;100	ENSP00000355929:N269S;ENSP00000353696:N100S;ENSP00000443193:N100S;ENSP00000446124:N143S;ENSP00000438141:N100S	ENSP00000353696:N100S	N	-	2	0	ANGEL2	211245326	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.215000	0.42862	0.437000	0.26423	0.454000	0.30748	AAC		0.423	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567	
CENPF	1063	broad.mit.edu	37	1	214794140	214794140	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:214794140G>A	ENST00000366955.3	+	6	884	c.716G>A	c.(715-717)aGa>aAa	p.R239K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.R239K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CCAATTAGGAGAGATTTCTCT	0.428																																					p.R239K	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G716A	1						.						92.0	103.0	99.0					1																	214794140		2203	4300	6503	212860763	SO:0001583	missense	1063	exon6			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.716G>A	1.37:g.214794140G>A	ENSP00000355922:p.Arg239Lys		212860763	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163267	0.94727	.	.	ENSG00000117724	ENST00000366955	T	0.38077	1.16	6.0	5.08	0.68730	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.41605	D	0.000845	T	0.55210	0.1906	.	.	.	0.42809	D	0.993952	D	0.69078	0.997	D	0.69824	0.966	T	0.52388	-0.8582	9	0.19590	T	0.45	.	16.5972	0.84799	0.0:0.0:0.8686:0.1313	.	239	P49454	CENPF_HUMAN	K	239	ENSP00000355922:R239K	ENSP00000355922:R239K	R	+	2	0	CENPF	212860763	1.000000	0.71417	0.994000	0.49952	0.958000	0.62258	6.949000	0.75971	1.520000	0.48965	0.603000	0.83216	AGA		0.428	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214819034	214819034	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:214819034G>A	ENST00000366955.3	+	13	6289	c.6121G>A	c.(6121-6123)Gaa>Aaa	p.E2041K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2137					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.E2041K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCAGAGTTTGGAAAAGGACTC	0.413																																					p.E2041K	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6121A	1						.						67.0	70.0	69.0					1																	214819034		2202	4300	6502	212885657	SO:0001583	missense	1063	exon13			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6121G>A	1.37:g.214819034G>A	ENSP00000355922:p.Glu2041Lys		212885657	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174608	0.78452	.	.	ENSG00000117724	ENST00000366955	T	0.03920	3.76	5.45	4.49	0.54785	.	0.198618	0.24967	N	0.034165	T	0.10165	0.0249	M	0.66939	2.045	0.31518	N	0.662728	P	0.48294	0.908	P	0.44422	0.449	T	0.03008	-1.1083	10	0.46703	T	0.11	.	15.539	0.76027	0.0:0.1825:0.8175:0.0	.	2137	P49454	CENPF_HUMAN	K	2041	ENSP00000355922:E2041K	ENSP00000355922:E2041K	E	+	1	0	CENPF	212885657	1.000000	0.71417	0.184000	0.23157	0.955000	0.61496	3.825000	0.55730	1.162000	0.42619	0.603000	0.83216	GAA		0.413	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
CENPF	1063	broad.mit.edu	37	1	214820720	214820720	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:214820720G>A	ENST00000366955.3	+	13	7975	c.7807G>A	c.(7807-7809)Gac>Aac	p.D2603N		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2699	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.D2603N(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GACAAAAATGGACAAAATGTC	0.358																																					p.D2603N	Colon(80;575 1284 11000 14801 43496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7807A	1						.						28.0	29.0	28.0					1																	214820720		2202	4299	6501	212887343	SO:0001583	missense	1063	exon13			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7807G>A	1.37:g.214820720G>A	ENSP00000355922:p.Asp2603Asn		212887343	NM_016343	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298255	0.23650	.	.	ENSG00000117724	ENST00000366955	T	0.03035	4.07	5.61	3.73	0.42828	.	0.222836	0.22784	N	0.055684	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42849	-0.9427	10	0.54805	T	0.06	.	9.6261	0.39752	0.0747:0.1407:0.7846:0.0	.	2699	P49454	CENPF_HUMAN	N	2603	ENSP00000355922:D2603N	ENSP00000355922:D2603N	D	+	1	0	CENPF	212887343	0.937000	0.31787	0.016000	0.15963	0.452000	0.32318	1.414000	0.34736	0.838000	0.34948	-0.166000	0.13349	GAC		0.358	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
KCTD3	51133	broad.mit.edu	37	1	215759845	215759845	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:215759845G>T	ENST00000259154.4	+	9	928	c.634G>T	c.(634-636)Gaa>Taa	p.E212*		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	212					protein homooligomerization (GO:0051260)			p.E212*(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CAGAATCAAAGAATCTTCAGG	0.418																																					p.E212X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G634T	1						.						113.0	109.0	111.0					1																	215759845		2203	4300	6503	213826468	SO:0001587	stop_gained	51133	exon9			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.634G>T	1.37:g.215759845G>T	ENSP00000259154:p.Glu212*		213826468	NM_016121	A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	ENST00000259154.4	37	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	40	8.391605	0.98791	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-35.1683	18.6315	0.91361	0.0:0.0:1.0:0.0	.	.	.	.	X	212	.	ENSP00000259154:E212X	E	+	1	0	KCTD3	213826468	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.458000	0.97634	2.642000	0.89623	0.543000	0.68304	GAA		0.418	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	
USH2A	7399	broad.mit.edu	37	1	215901723	215901723	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:215901723G>A	ENST00000307340.3	-	61	12101	c.11715C>T	c.(11713-11715)cgC>cgT	p.R3905R	USH2A_ENST00000366943.2_Silent_p.R3905R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3905	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R3905R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGCCAGCAGGGCGTCTGAAAG	0.423										HNSCC(13;0.011)																											p.R3905R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11715T	1						.						41.0	41.0	41.0					1																	215901723		2202	4300	6502	213968346	SO:0001819	synonymous_variant	7399	exon61			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11715C>T	1.37:g.215901723G>A			213968346	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216040485	216040485	+	Silent	SNP	G	G	A	rs397518040		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:216040485G>A	ENST00000307340.3	-	44	9095	c.8709C>T	c.(8707-8709)ttC>ttT	p.F2903F	USH2A_ENST00000366943.2_Silent_p.F2903F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2903	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.F2903F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTGTGTACGAAGAGCATAT	0.363										HNSCC(13;0.011)																											p.F2903F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8709T	1						.						85.0	79.0	81.0					1																	216040485		2203	4300	6503	214107108	SO:0001819	synonymous_variant	7399	exon44			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8709C>T	1.37:g.216040485G>A			214107108	NM_206933	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
USH2A	7399	broad.mit.edu	37	1	216138672	216138672	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:216138672G>T	ENST00000307340.3	-	37	7493	c.7107C>A	c.(7105-7107)ttC>ttA	p.F2369L	USH2A_ENST00000366943.2_Missense_Mutation_p.F2369L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2369	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.F2369L(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTCTACATAGAATATCCCAG	0.358										HNSCC(13;0.011)																											p.F2369L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7107A	1						.						104.0	104.0	104.0					1																	216138672		2203	4300	6503	214205295	SO:0001583	missense	7399	exon37			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7107C>A	1.37:g.216138672G>T	ENSP00000305941:p.Phe2369Leu		214205295	NM_206933	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429809	0.43122	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.51071	0.72;0.72	5.56	5.56	0.83823	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.47455	D	0.000228	T	0.63462	0.2513	M	0.74258	2.255	0.35907	D	0.830799	D	0.69078	0.997	D	0.75020	0.985	T	0.65948	-0.6044	10	0.21014	T	0.42	.	10.3588	0.43980	0.1461:0.0:0.8539:0.0	.	2369	O75445	USH2A_HUMAN	L	2369	ENSP00000305941:F2369L;ENSP00000355910:F2369L	ENSP00000305941:F2369L	F	-	3	2	USH2A	214205295	1.000000	0.71417	0.997000	0.53966	0.046000	0.14306	3.059000	0.49947	2.778000	0.95560	0.655000	0.94253	TTC		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
SPATA17	128153	broad.mit.edu	37	1	217947848	217947848	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:217947848T>G	ENST00000366933.4	+	7	747	c.692T>G	c.(691-693)aTt>aGt	p.I231S		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	231						cytoplasm (GO:0005737)		p.I231S(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CGGTCTGAAATTCTACCACCT	0.373																																					p.I231S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T692G	1						.						57.0	55.0	56.0					1																	217947848		2203	4300	6503	216014471	SO:0001583	missense	128153	exon7			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.692T>G	1.37:g.217947848T>G	ENSP00000355900:p.Ile231Ser		216014471	NM_138796	A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402792	0.42613	.	.	ENSG00000162814	ENST00000366933	T	0.42131	0.98	5.45	-1.41	0.08941	.	0.848452	0.10703	N	0.643827	T	0.23688	0.0573	L	0.31294	0.92	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31364	-0.9946	10	0.09338	T	0.73	-5.674	6.9447	0.24512	0.0:0.4965:0.2116:0.2919	.	231	Q96L03	SPT17_HUMAN	S	231	ENSP00000355900:I231S	ENSP00000355900:I231S	I	+	2	0	SPATA17	216014471	0.001000	0.12720	0.001000	0.08648	0.870000	0.49936	0.507000	0.22675	-0.172000	0.10779	0.460000	0.39030	ATT		0.373	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796	
TGFB2	7042	broad.mit.edu	37	1	218578617	218578617	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:218578617C>A	ENST00000366930.4	+	2	920	c.453C>A	c.(451-453)gtC>gtA	p.V151V	TGFB2_ENST00000366929.4_Silent_p.V179V	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	151					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.V179V(1)|p.V151V(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGTTCAGAGTCTTTCGTTTGC	0.423																																					p.V151V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C453A	1						.						209.0	202.0	204.0					1																	218578617		2203	4300	6503	216645240	SO:0001819	synonymous_variant	7042	exon2			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.453C>A	1.37:g.218578617C>A			216645240	NM_003238	B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	CCDS1521.1																																																																																				0.423	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238	
EPRS	2058	broad.mit.edu	37	1	220170515	220170515	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:220170515A>C	ENST00000366923.3	-	18	2620	c.2351T>G	c.(2350-2352)cTt>cGt	p.L784R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	784	3 X 57 AA approximate repeats.|WHEP-TRS 1.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.L784R(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CAAAGACAAAAGCTGTTTTAC	0.393																																					p.L784R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2351G	1						.						98.0	95.0	96.0					1																	220170515		2203	4300	6503	218237138	SO:0001583	missense	2058	exon18			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2351T>G	1.37:g.220170515A>C	ENSP00000355890:p.Leu784Arg		218237138	NM_004446	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436168	0.83885	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	D	0.86627	-2.15	5.62	5.62	0.85841	WHEP-TRS (3);S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.95695	0.8600	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97083	0.9785	10	0.87932	D	0	-24.4713	15.8389	0.78824	1.0:0.0:0.0:0.0	.	808;791;784	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	R	784;791;808	ENSP00000355890:L784R	ENSP00000355890:L784R	L	-	2	0	EPRS	218237138	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.769000	0.74985	2.150000	0.67090	0.533000	0.62120	CTT		0.393	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
RAB3GAP2	25782	broad.mit.edu	37	1	220326745	220326745	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:220326745A>C	ENST00000358951.2	-	33	3765	c.3649T>G	c.(3649-3651)Tta>Gta	p.L1217V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1217					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.L1217V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACTTTCAATAAGAACTTGAAA	0.408																																					p.L1217V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3649G	1						.						115.0	115.0	115.0					1																	220326745		2203	4300	6503	218393368	SO:0001583	missense	25782	exon33			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3649T>G	1.37:g.220326745A>C	ENSP00000351832:p.Leu1217Val		218393368	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816980	0.70912	.	.	ENSG00000118873	ENST00000358951	T	0.61627	0.09	5.69	3.39	0.38822	.	0.080791	0.49916	D	0.000135	T	0.64249	0.2581	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63510	-0.6621	10	0.66056	D	0.02	.	9.892	0.41296	0.8627:0.0:0.1373:0.0	.	1217;1217	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1217	ENSP00000351832:L1217V	ENSP00000351832:L1217V	L	-	1	2	RAB3GAP2	218393368	1.000000	0.71417	0.938000	0.37757	0.963000	0.63663	0.975000	0.29449	0.538000	0.28769	0.529000	0.55759	TTA		0.408	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
RAB3GAP2	25782	broad.mit.edu	37	1	220383752	220383752	+	Missense_Mutation	SNP	C	C	T	rs535153124		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:220383752C>T	ENST00000358951.2	-	7	706	c.590G>A	c.(589-591)cGa>cAa	p.R197Q		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	197					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.R197Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCCGGGATGTCGTGGTATTTC	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		18545	0.0		0.001	False		,,,				2504	0.0				p.R197Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590A	1						.						213.0	208.0	210.0					1																	220383752		2203	4300	6503	218450375	SO:0001583	missense	25782	exon7			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.590G>A	1.37:g.220383752C>T	ENSP00000351832:p.Arg197Gln		218450375	NM_012414	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345470	0.95807	.	.	ENSG00000118873	ENST00000358951	T	0.33438	1.41	5.59	5.59	0.84812	.	0.051316	0.64402	D	0.000001	T	0.50548	0.1622	L	0.43923	1.385	0.46874	D	0.999233	D;D	0.89917	1.0;0.993	D;P	0.77004	0.989;0.808	T	0.43686	-0.9376	10	0.59425	D	0.04	.	19.5545	0.95338	0.0:1.0:0.0:0.0	.	197;197	Q9H2M9-2;Q9H2M9	.;RBGPR_HUMAN	Q	197	ENSP00000351832:R197Q	ENSP00000351832:R197Q	R	-	2	0	RAB3GAP2	218450375	0.995000	0.38212	0.923000	0.36655	0.987000	0.75469	5.411000	0.66386	2.797000	0.96272	0.563000	0.77884	CGA		0.423	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414	
USP48	84196	broad.mit.edu	37	1	22056265	22056265	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:22056265C>T	ENST00000308271.9	-	10	1880	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	USP48_ENST00000529637.1_Missense_Mutation_p.R410Q|USP48_ENST00000421625.2_Missense_Mutation_p.R411Q|USP48_ENST00000400301.1_Missense_Mutation_p.R411Q	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	411	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R411Q(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATATGCATTTCGAGAGCAATG	0.408																																					p.R411Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232A	1						.						202.0	183.0	189.0					1																	22056265		2203	4300	6503	21928852	SO:0001583	missense	84196	exon10			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1232G>A	1.37:g.22056265C>T	ENSP00000309262:p.Arg411Gln		21928852	NM_001032730	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086628	0.76642	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000534705;ENST00000421625	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.59	5.59	0.84812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.38175	1.15	0.80722	D	1	P;P;B;B;B;P	0.41848	0.763;0.513;0.03;0.036;0.282;0.757	B;B;B;B;B;B	0.27796	0.081;0.069;0.005;0.011;0.021;0.083	T	0.06197	-1.0840	10	0.52906	T	0.07	.	18.9536	0.92649	0.0:1.0:0.0:0.0	.	410;411;411;411;411;411	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	Q	411;411;410;33;411	ENSP00000383157:R411Q;ENSP00000309262:R411Q;ENSP00000431949:R410Q;ENSP00000406256:R411Q	ENSP00000309262:R411Q	R	-	2	0	USP48	21928852	1.000000	0.71417	0.985000	0.45067	0.908000	0.53690	7.303000	0.78871	2.782000	0.95742	0.557000	0.71058	CGA		0.408	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	
USP48	84196	broad.mit.edu	37	1	22084255	22084255	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:22084255C>T	ENST00000308271.9	-	2	804	c.156G>A	c.(154-156)ccG>ccA	p.P52P	USP48_ENST00000529637.1_Silent_p.P52P|USP48_ENST00000421625.2_Silent_p.P52P|USP48_ENST00000400301.1_Silent_p.P52P	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	52					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.P52P(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CCAAGCAATTCGGATTTCCTT	0.328																																					p.P52P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G156A	1						.						97.0	89.0	92.0					1																	22084255		2203	4300	6503	21956842	SO:0001819	synonymous_variant	84196	exon2			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.156G>A	1.37:g.22084255C>T			21956842	NM_001032730	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	CCDS30623.1																																																																																				0.328	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236	
HLX	3142	broad.mit.edu	37	1	221054616	221054616	+	Missense_Mutation	SNP	G	G	A	rs370989205		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:221054616G>A	ENST00000366903.6	+	2	2174	c.673G>A	c.(673-675)Gca>Aca	p.A225T	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'UTR	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	225					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A225T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCAGTTCTTCGCATCTCTAGA	0.567																																					p.A225T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G673A	1						.						101.0	104.0	103.0					1																	221054616		2203	4300	6503	219121239	SO:0001583	missense	3142	exon2			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.673G>A	1.37:g.221054616G>A	ENSP00000355870:p.Ala225Thr		219121239	NM_021958	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474238	0.43942	.	.	ENSG00000136630	ENST00000366903	D	0.90620	-2.7	5.82	3.95	0.45737	.	0.096238	0.43260	N	0.000598	T	0.77377	0.4121	N	0.17082	0.46	0.80722	D	1	P	0.41475	0.751	B	0.22601	0.04	T	0.74275	-0.3718	10	0.25106	T	0.35	-6.8998	12.1408	0.53996	0.1401:0.0:0.8599:0.0	.	225	Q14774	HLX_HUMAN	T	225	ENSP00000355870:A225T	ENSP00000355870:A225T	A	+	1	0	HLX	219121239	1.000000	0.71417	0.972000	0.41901	0.230000	0.25150	4.983000	0.63832	0.807000	0.34208	-0.258000	0.10820	GCA		0.567	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958	
HHIPL2	79802	broad.mit.edu	37	1	222705355	222705355	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:222705355A>G	ENST00000343410.6	-	6	1734	c.1676T>C	c.(1675-1677)aTc>aCc	p.I559T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	559					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.I559T(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATGGGTGCTGATCAGCCCTGG	0.448																																					p.I559T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1676C	1						.						95.0	93.0	94.0					1																	222705355		2203	4300	6503	220771978	SO:0001583	missense	79802	exon6			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1676T>C	1.37:g.222705355A>G	ENSP00000342118:p.Ile559Thr		220771978	NM_024746	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	A	17.06	3.291604	0.59976	.	.	ENSG00000143512	ENST00000343410	T	0.13307	2.6	5.0	3.88	0.44766	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.171432	0.48767	N	0.000180	T	0.15392	0.0371	L	0.46670	1.46	0.46131	D	0.998884	P	0.36438	0.553	B	0.40782	0.34	T	0.02411	-1.1163	10	0.44086	T	0.13	-10.0796	10.1956	0.43051	0.9209:0.0:0.0791:0.0	.	559	Q6UWX4	HIPL2_HUMAN	T	559	ENSP00000342118:I559T	ENSP00000342118:I559T	I	-	2	0	HHIPL2	220771978	1.000000	0.71417	0.983000	0.44433	0.961000	0.63080	7.038000	0.76537	0.757000	0.33036	-0.326000	0.08463	ATC		0.448	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
MIA3	375056	broad.mit.edu	37	1	222801630	222801630	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:222801630G>T	ENST00000344922.5	+	4	1093	c.1068G>T	c.(1066-1068)caG>caT	p.Q356H	MIA3_ENST00000344441.6_Missense_Mutation_p.Q356H|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Missense_Mutation_p.Q356H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	356					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.Q356H(2)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATAAAGAGCAGAATTCAAATG	0.398																																					p.Q356H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1068T	1						.						79.0	74.0	76.0					1																	222801630		1836	4096	5932	220868253	SO:0001583	missense	375056	exon4				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1068G>T	1.37:g.222801630G>T	ENSP00000340900:p.Gln356His		220868253	NM_198551	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210395	0.39003	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.43294	0.95;0.95;1.46	5.19	3.32	0.38043	.	.	.	.	.	T	0.43590	0.1254	L	0.53249	1.67	0.09310	N	1	P;P	0.50528	0.936;0.845	P;P	0.50378	0.639;0.459	T	0.28427	-1.0044	9	0.49607	T	0.09	.	4.6794	0.12727	0.2434:0.0:0.5679:0.1887	.	356;356	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	H	356	ENSP00000340900:Q356H;ENSP00000340587:Q356H;ENSP00000341348:Q356H	ENSP00000325973:Q356H	Q	+	3	2	MIA3	220868253	0.022000	0.18835	0.005000	0.12908	0.137000	0.21094	0.681000	0.25320	0.683000	0.31428	-0.459000	0.05422	CAG		0.398	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551	
DISP1	84976	broad.mit.edu	37	1	223116506	223116506	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:223116506C>T	ENST00000284476.6	+	2	505	c.341C>T	c.(340-342)tCg>tTg	p.S114L	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.S114L	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	114					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.S114L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCTTTGGCCTCGTGTTGCATG	0.542																																					p.S114L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C341T	1						.						140.0	113.0	122.0					1																	223116506		2203	4300	6503	221183129	SO:0001583	missense	84976	exon2			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.341C>T	1.37:g.223116506C>T	ENSP00000284476:p.Ser114Leu		221183129	NM_032890	Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773444	0.69992	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.93019	0.22;-3.15	5.62	5.62	0.85841	.	0.462710	0.21498	N	0.073575	D	0.92485	0.7614	M	0.62723	1.935	0.39955	D	0.974594	B	0.18968	0.032	B	0.08055	0.003	D	0.89078	0.3474	10	0.45353	T	0.12	-9.0437	19.6445	0.95771	0.0:1.0:0.0:0.0	.	114	Q96F81	DISP1_HUMAN	L	114	ENSP00000355848:S114L;ENSP00000284476:S114L	ENSP00000284476:S114L	S	+	2	0	DISP1	221183129	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.596000	0.67570	2.652000	0.90054	0.650000	0.86243	TCG		0.542	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890	
SUSD4	55061	broad.mit.edu	37	1	223438124	223438124	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:223438124A>G	ENST00000343846.3	-	4	1205	c.572T>C	c.(571-573)gTa>gCa	p.V191A	SUSD4_ENST00000344029.6_Missense_Mutation_p.V191A|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000484758.2_Missense_Mutation_p.V120A|SUSD4_ENST00000454695.2_Missense_Mutation_p.V31A|SUSD4_ENST00000366878.4_Missense_Mutation_p.V191A|SUSD4_ENST00000494793.2_Missense_Mutation_p.V191A			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	191	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.V191A(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGAGATGTTTACATAGCCATT	0.488																																					p.V191A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T572C	1						.						67.0	73.0	71.0					1																	223438124		2203	4300	6503	221504747	SO:0001583	missense	55061	exon5			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.572T>C	1.37:g.223438124A>G	ENSP00000344219:p.Val191Ala		221504747	NM_001037175	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	ENST00000343846.3	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965497	0.34659	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695;ENST00000344029	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.45	3.08	0.35506	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.42821	D	0.000659	T	0.76793	0.4037	M	0.69823	2.125	0.80722	D	1	B;D;B	0.58268	0.004;0.982;0.004	B;D;B	0.70227	0.022;0.968;0.01	T	0.72283	-0.4339	10	0.20519	T	0.43	-9.0871	11.8642	0.52484	0.7224:0.2776:0.0:0.0	.	120;191;191	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	A	191;191;120;31;191	ENSP00000344219:V191A;ENSP00000355843:V191A;ENSP00000399288:V31A;ENSP00000339926:V191A	ENSP00000344219:V191A	V	-	2	0	SUSD4	221504747	1.000000	0.71417	0.999000	0.59377	0.014000	0.08584	3.333000	0.52090	0.479000	0.27511	-0.438000	0.05819	GTA		0.488	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982	
DNAH14	127602	broad.mit.edu	37	1	225152254	225152254	+	Silent	SNP	G	G	A	rs371936326		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:225152254G>A	ENST00000445597.2	+	6	822	c.822G>A	c.(820-822)ccG>ccA	p.P274P	DNAH14_ENST00000366848.1_Silent_p.P147P|DNAH14_ENST00000439375.2_Silent_p.P147P|DNAH14_ENST00000430092.1_Silent_p.P147P|DNAH14_ENST00000366850.3_Silent_p.P147P|DNAH14_ENST00000400952.3_Silent_p.P147P|DNAH14_ENST00000366849.1_Silent_p.P147P			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	274			P -> L (in dbSNP:rs41267349). {ECO:0000269|PubMed:15489334}.		microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P147P(2)|p.P274P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						CTATATTACCGCAGCACAGTT	0.294																																					p.P147P												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G441A	1						.	G	,,	0,3584		0,0,1792	95.0	94.0	94.0		441,441,441	-10.7	0.0	1		94	1,8125		0,1,4062	no	coding-synonymous,coding-synonymous,coding-synonymous	DNAH14	NM_001145154.1,NM_001373.1,NM_144989.2	,,	0,1,5854	AA,AG,GG		0.0123,0.0,0.0085	,,	147/454,147/4516,147/229	225152254	1,11709	1792	4063	5855	223218877	SO:0001819	synonymous_variant	127602	exon5			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.822G>A	1.37:g.225152254G>A			223218877	NM_144989	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Silent	SNP	ENST00000445597.2	37		.	.	.	.	.	.	.	.	.	.	G	4.932	0.173168	0.09391	0.0	1.23E-4	ENSG00000185842	ENST00000433124	.	.	.	5.33	-10.7	0.00240	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13072	-1.0523	4	.	.	.	.	3.9847	0.09511	0.2121:0.2861:0.403:0.0987	.	.	.	.	H	45	.	.	R	+	2	0	DNAH14	223218877	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.577000	0.00909	-1.561000	0.01684	-0.456000	0.05471	CGC		0.294	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
LBR	3930	broad.mit.edu	37	1	225607070	225607070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:225607070C>A	ENST00000338179.2	-	5	660	c.535G>T	c.(535-537)Gaa>Taa	p.E179*	LBR_ENST00000487054.1_5'Flank|LBR_ENST00000272163.4_Nonsense_Mutation_p.E179*	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	179					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.E179*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GAATCTATTTCTTTTAATTTG	0.378																																					p.E179X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G535T	1						.						95.0	95.0	95.0					1																	225607070		2203	4300	6503	223673693	SO:0001587	stop_gained	3930	exon5			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.535G>T	1.37:g.225607070C>A	ENSP00000339883:p.Glu179*		223673693	NM_194442	B2R5P3|Q14740|Q53GU7|Q59FE6	Nonsense_Mutation	SNP	ENST00000338179.2	37	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403025	0.83230	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080	.	.	.	5.54	3.63	0.41609	.	0.523028	0.22695	N	0.056772	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-4.2003	8.5156	0.33244	0.0:0.7635:0.1538:0.0827	.	.	.	.	X	179	.	ENSP00000272163:E179X	E	-	1	0	LBR	223673693	0.992000	0.36948	0.043000	0.18650	0.250000	0.25880	1.604000	0.36804	0.679000	0.31345	0.561000	0.74099	GAA		0.378	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296	
ACBD3	64746	broad.mit.edu	37	1	226353615	226353615	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:226353615T>G	ENST00000366812.5	-	2	427	c.373A>C	c.(373-375)Aat>Cat	p.N125H		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	125	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)	p.N125H(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GTGTCTGGATTATATGGGCCC	0.368																																					p.N125H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A373C	1						.						122.0	117.0	118.0					1																	226353615		2203	4300	6503	224420238	SO:0001583	missense	64746	exon2			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.373A>C	1.37:g.226353615T>G	ENSP00000355777:p.Asn125His		224420238	NM_022735	B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	T	30	5.050625	0.93740	.	.	ENSG00000182827	ENST00000366812	T	0.24538	1.85	5.78	5.78	0.91487	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.59547	-0.7434	10	0.72032	D	0.01	-21.1377	16.1205	0.81351	0.0:0.0:0.0:1.0	.	125	Q9H3P7	GCP60_HUMAN	H	125	ENSP00000355777:N125H	ENSP00000355777:N125H	N	-	1	0	ACBD3	224420238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.977000	0.88081	2.205000	0.71048	0.533000	0.62120	AAT		0.368	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	
PARP1	142	broad.mit.edu	37	1	226549184	226549184	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:226549184T>A	ENST00000366794.5	-	23	3165	c.3022A>T	c.(3022-3024)Aat>Tat	p.N1008Y	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	1008	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTCTTAAAATTGAATTTCAGT	0.473								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																													p.N1008Y												.	.	0			c.A3022T	1						.						74.0	66.0	69.0					1																	226549184		2203	4300	6503	224615807	SO:0001583	missense	142	exon23			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.3022A>T	1.37:g.226549184T>A	ENSP00000355759:p.Asn1008Tyr		224615807	NM_001618	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	T	33	5.278842	0.95489	.	.	ENSG00000143799	ENST00000366794	T	0.15372	2.43	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	M	0.74647	2.275	0.80722	D	1	D	0.67145	0.996	P	0.53035	0.716	T	0.11767	-1.0574	10	0.66056	D	0.02	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1008	P09874	PARP1_HUMAN	Y	1008	ENSP00000355759:N1008Y	ENSP00000355759:N1008Y	N	-	1	0	PARP1	224615807	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.988000	0.88194	2.371000	0.80710	0.533000	0.62120	AAT		0.473	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618	
CDC42BPA	8476	broad.mit.edu	37	1	227504741	227504741	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:227504741C>T	ENST00000366769.3	-	1	1434	c.143G>A	c.(142-144)aGa>aAa	p.R48K	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R48K|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R48K|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R48K|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R48K|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R48K|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R48K	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.R48K(3)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTCTCTCTTCTCAATGGAGA	0.383																																					p.R48K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G143A	1						.						98.0	93.0	95.0					1																	227504741		2203	4300	6503	225571364	SO:0001583	missense	8476	exon1			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.143G>A	1.37:g.227504741C>T	ENSP00000355731:p.Arg48Lys		225571364	NM_014826		Missense_Mutation	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.531011	0.64972	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65916	-0.12;-0.18;-0.13;-0.15;-0.14;-0.12;-0.15	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	L	0.50847	1.595	0.51012	D	0.999903	P;D;B;B	0.62365	0.86;0.991;0.036;0.112	P;D;B;B	0.70487	0.613;0.969;0.066;0.076	T	0.70684	-0.4804	10	0.30854	T	0.27	.	18.798	0.92003	0.0:1.0:0.0:0.0	.	48;48;48;48	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	K	48	ENSP00000355731:R48K;ENSP00000355729:R48K;ENSP00000335341:R48K;ENSP00000355728:R48K;ENSP00000355726:R48K;ENSP00000443275:R48K;ENSP00000355727:R48K	ENSP00000335341:R48K	R	-	2	0	CDC42BPA	225571364	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.645000	0.67909	2.502000	0.84385	0.563000	0.77884	AGA		0.383	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
ZNF678	339500	broad.mit.edu	37	1	227842674	227842674	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:227842674A>C	ENST00000343776.5	+	4	1068	c.723A>C	c.(721-723)gaA>gaC	p.E241D	ZNF678_ENST00000397097.3_Missense_Mutation_p.E296D|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E241D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AATGCAAAGAATGTTGCAAAG	0.378																																					p.E296D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A888C	1						.						56.0	64.0	61.0					1																	227842674		2203	4298	6501	225909297	SO:0001583	missense	339500	exon4			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.723A>C	1.37:g.227842674A>C	ENSP00000344828:p.Glu241Asp		225909297	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	A	11.76	1.733629	0.30684	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.35973	1.28;1.43	1.62	0.296	0.15757	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28134	0.0694	L	0.33339	1.005	0.24866	N	0.992312	B	0.25719	0.132	B	0.35550	0.205	T	0.38045	-0.9679	9	0.51188	T	0.08	.	5.0271	0.14391	0.8056:0.0:0.1944:0.0	.	241	Q5SXM1	ZN678_HUMAN	D	241;296	ENSP00000344828:E241D;ENSP00000440403:E296D	ENSP00000344828:E241D	E	+	3	2	ZNF678	225909297	0.000000	0.05858	0.627000	0.29227	0.393000	0.30537	-3.682000	0.00394	-0.134000	0.11516	-0.322000	0.08575	GAA		0.378	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
ZNF678	339500	broad.mit.edu	37	1	227842935	227842935	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:227842935A>C	ENST00000343776.5	+	4	1329	c.984A>C	c.(982-984)aaA>aaC	p.K328N	ZNF678_ENST00000397097.3_Missense_Mutation_p.K383N|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K328N(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AATGTGGCAAAACTTTTAATC	0.388																																					p.K383N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1149C	1						.						34.0	40.0	38.0					1																	227842935		2201	4292	6493	225909558	SO:0001583	missense	339500	exon4			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.984A>C	1.37:g.227842935A>C	ENSP00000344828:p.Lys328Asn		225909558	NM_178549	Q8IVQ9	Missense_Mutation	SNP	ENST00000343776.5	37		.	.	.	.	.	.	.	.	.	.	A	13.36	2.215419	0.39102	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.35973	1.28;1.28	1.62	0.457	0.16661	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59998	0.2235	M	0.91196	3.185	0.24328	N	0.995018	D	0.67145	0.996	D	0.74023	0.982	T	0.45205	-0.9277	9	0.72032	D	0.01	.	4.2146	0.10528	0.7738:0.0:0.2262:0.0	.	328	Q5SXM1	ZN678_HUMAN	N	328;383	ENSP00000344828:K328N;ENSP00000440403:K383N	ENSP00000344828:K328N	K	+	3	2	ZNF678	225909558	0.000000	0.05858	0.096000	0.21009	0.090000	0.18270	-0.747000	0.04823	0.656000	0.30886	0.491000	0.48974	AAA		0.388	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549	
OBSCN	84033	broad.mit.edu	37	1	228437675	228437675	+	Missense_Mutation	SNP	C	C	T	rs199655077		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:228437675C>T	ENST00000422127.1	+	14	4087	c.4043C>T	c.(4042-4044)gCg>gTg	p.A1348V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A1348V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1440V|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1348	Ig-like 14.			A -> V (in Ref. 1; CAC85746). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A1348V(2)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCCCAAGGCGGTGTTTGCA	0.647																																					p.A1348V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4043T	1						.	C	VAL/ALA,VAL/ALA	0,4188		0,0,2094	69.0	72.0	71.0		4043,4043	-1.7	0.0	1		71	2,8434		0,2,4216	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	64,64	0,2,6310	TT,TC,CC		0.0237,0.0,0.0158	benign,benign	1348/7969,1348/6621	228437675	2,12622	2094	4218	6312	226504298	SO:0001583	missense	84033	exon14			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4043C>T	1.37:g.228437675C>T	ENSP00000409493:p.Ala1348Val		226504298	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	2.528	-0.309099	0.05458	0.0	2.37E-4	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04049	3.72;3.72	5.31	-1.66	0.08265	Immunoglobulin-like (1);	1.591470	0.03661	N	0.242523	T	0.01695	0.0054	N	0.02247	-0.625	0.09310	N	0.999999	B;B	0.31227	0.038;0.314	B;B	0.19148	0.007;0.024	T	0.39292	-0.9621	10	0.12766	T	0.61	.	4.0836	0.09937	0.2304:0.2721:0.0:0.4975	.	1348;1348	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	1348	ENSP00000284548:A1348V;ENSP00000409493:A1348V	ENSP00000284548:A1348V	A	+	2	0	OBSCN	226504298	0.000000	0.05858	0.029000	0.17559	0.003000	0.03518	-2.492000	0.00973	-0.205000	0.10219	-1.004000	0.02495	GCG		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ZBTB40	9923	broad.mit.edu	37	1	22838609	22838609	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:22838609G>A	ENST00000375647.4	+	11	2650	c.2443G>A	c.(2443-2445)Gaa>Aaa	p.E815K	ZBTB40_ENST00000374651.4_Missense_Mutation_p.E703K|ZBTB40_ENST00000404138.1_Missense_Mutation_p.E815K	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	815					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E815K(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTGTGGCAGAGAATTTGCCCA	0.502																																					p.E815K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2443A	1						.						46.0	49.0	48.0					1																	22838609		2203	4300	6503	22711196	SO:0001583	missense	9923	exon11			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2443G>A	1.37:g.22838609G>A	ENSP00000364798:p.Glu815Lys		22711196	NM_014870	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224972	0.58668	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.76060	-0.99;-0.99;-0.99	5.73	5.73	0.89815	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000030	T	0.73102	0.3544	N	0.05306	-0.075	0.43317	D	0.995337	D;D	0.69078	0.996;0.997	P;D	0.65573	0.895;0.936	T	0.78074	-0.2346	10	0.46703	T	0.11	-19.138	18.4702	0.90771	0.0:0.0:1.0:0.0	.	703;815	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	K	815;815;703	ENSP00000384527:E815K;ENSP00000364798:E815K;ENSP00000363782:E703K	ENSP00000363782:E703K	E	+	1	0	ZBTB40	22711196	1.000000	0.71417	0.490000	0.27465	0.706000	0.40770	5.609000	0.67661	2.693000	0.91896	0.655000	0.94253	GAA		0.502	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870	
OBSCN	84033	broad.mit.edu	37	1	228505424	228505425	+	Missense_Mutation	DNP	GG	GG	TT	rs368964682		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	GG	GG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:228505424_228505425GG>TT	ENST00000422127.1	+	52	13865_13866	c.13821_13822GG>TT	c.(13819-13824)ccGGtt>ccTTtt	p.V4608F	OBSCN_ENST00000366709.4_Missense_Mutation_p.V1727F|OBSCN_ENST00000570156.2_Missense_Mutation_p.V5565F|OBSCN_ENST00000284548.11_Missense_Mutation_p.V4608F|OBSCN_ENST00000366707.4_Missense_Mutation_p.V2242F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4608	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.P5189>?(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGGGAACCGGTTCACCTGCC	0.668																																					.												.	.	1	Complex(1)	large_intestine(1)	c.13821_13822TT	1						.																																			226572048	SO:0001583	missense	84033	exon52			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	Exception_encountered	1.37:g.228505424_228505425delinsTT	ENSP00000409493:p.Val4608Phe		226572047	NM_052843	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	DNP	ENST00000422127.1	37	CCDS58065.1																																																																																				0.668	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
NUP133	55746	broad.mit.edu	37	1	229600583	229600583	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:229600583C>T	ENST00000261396.3	-	18	2430	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H	NUP133_ENST00000537506.1_Missense_Mutation_p.R764H	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTCATGCTGGCGTATTATTAC	0.473																																					p.R780H												.	.	0			c.G2339A	1						.						128.0	103.0	112.0					1																	229600583		2203	4300	6503	227667206	SO:0001583	missense	55746	exon18				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2339G>A	1.37:g.229600583C>T	ENSP00000261396:p.Arg780His		227667206	NM_018230	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012340	0.75046	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.26223	1.82;1.75;1.82	6.03	4.14	0.48551	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.045868	0.85682	N	0.000000	T	0.38268	0.1034	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.08722	-1.0708	10	0.51188	T	0.08	-3.2086	8.3151	0.32095	0.129:0.7384:0.0:0.1326	.	780	Q8WUM0	NU133_HUMAN	H	780;780;780;764	ENSP00000261396:R780H;ENSP00000355640:R780H;ENSP00000443496:R764H	ENSP00000261396:R780H	R	-	2	0	NUP133	227667206	0.981000	0.34729	0.896000	0.35187	0.644000	0.38419	2.228000	0.42981	0.857000	0.35407	0.655000	0.94253	CGC		0.473	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	
URB2	9816	broad.mit.edu	37	1	229763421	229763421	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:229763421G>A	ENST00000258243.2	+	2	177	c.41G>A	c.(40-42)aGc>aAc	p.S14N	TAF5L_ENST00000366674.1_5'Flank|TAF5L_ENST00000477957.1_5'Flank|TAF5L_ENST00000366675.3_5'Flank|TAF5L_ENST00000258281.2_5'Flank	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	14						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S14N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAGCTTAAAAGCAAGACAACT	0.338																																					p.S14N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G41A	1						.						96.0	105.0	102.0					1																	229763421		2203	4300	6503	227830044	SO:0001583	missense	9816	exon2			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.41G>A	1.37:g.229763421G>A	ENSP00000258243:p.Ser14Asn		227830044	NM_014777	Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697341	0.48202	.	.	ENSG00000135763	ENST00000258243	T	0.32023	1.47	5.24	5.24	0.73138	.	0.149266	0.85682	D	0.000000	T	0.14570	0.0352	N	0.08118	0	0.36564	D	0.872604	P	0.37636	0.603	B	0.32762	0.152	T	0.22382	-1.0218	9	.	.	.	-20.0454	12.5436	0.56186	0.0769:0.0:0.9231:0.0	.	14	Q14146	URB2_HUMAN	N	14	ENSP00000258243:S14N	.	S	+	2	0	URB2	227830044	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.768000	0.55295	2.613000	0.88420	0.561000	0.74099	AGC		0.338	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
TTC13	79573	broad.mit.edu	37	1	231061388	231061388	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:231061388A>C	ENST00000366661.4	-	13	1470	c.1463T>G	c.(1462-1464)gTg>gGg	p.V488G	TTC13_ENST00000366662.4_Missense_Mutation_p.V435G|TTC13_ENST00000414259.1_Missense_Mutation_p.V435G	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	488								p.V488G(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTGATGTAACACATCTCTGGA	0.413																																					p.V488G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1463G	1						.						141.0	131.0	134.0					1																	231061388		2203	4300	6503	229128011	SO:0001583	missense	79573	exon13				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1463T>G	1.37:g.231061388A>C	ENSP00000355621:p.Val488Gly		229128011	NM_024525	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623750	0.87460	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.33216	1.42;1.42;1.42	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	0.989;0.999;0.997;1.0	P;D;D;D	0.87578	0.891;0.991;0.913;0.998	T	0.45614	-0.9249	10	0.87932	D	0	-16.0386	16.0203	0.80478	1.0:0.0:0.0:0.0	.	413;435;435;488	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	G	488;435;435	ENSP00000355621:V488G;ENSP00000355622:V435G;ENSP00000416631:V435G	ENSP00000355621:V488G	V	-	2	0	TTC13	229128011	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.339000	0.96797	2.186000	0.69663	0.523000	0.50628	GTG		0.413	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
TTC13	79573	broad.mit.edu	37	1	231076283	231076283	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:231076283C>T	ENST00000366661.4	-	7	699	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	TTC13_ENST00000366662.4_Missense_Mutation_p.R178Q|TTC13_ENST00000414259.1_Missense_Mutation_p.R178Q	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	231								p.R231Q(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTCATTAATTCGTCCCAGAGG	0.448																																					p.R231Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G692A	1						.						98.0	90.0	93.0					1																	231076283		2203	4300	6503	229142906	SO:0001583	missense	79573	exon7				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.692G>A	1.37:g.231076283C>T	ENSP00000355621:p.Arg231Gln		229142906	NM_024525	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231031	0.95207	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000522399	T;T;T;T	0.73897	1.13;0.32;0.32;-0.79	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.81399	0.4814	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.89917	0.984;0.998;1.0;1.0	P;D;D;D	0.85130	0.63;0.992;0.997;0.959	T	0.79754	-0.1670	10	0.36615	T	0.2	-6.8977	19.1143	0.93331	0.0:1.0:0.0:0.0	.	156;178;178;231	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	Q	231;178;178;121	ENSP00000355621:R231Q;ENSP00000355622:R178Q;ENSP00000416631:R178Q;ENSP00000428622:R121Q	ENSP00000355621:R231Q	R	-	2	0	TTC13	229142906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.456000	0.80751	2.520000	0.84964	0.655000	0.94253	CGA		0.448	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	
SPRTN	83932	broad.mit.edu	37	1	231487264	231487264	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:231487264G>A	ENST00000295050.7	+	4	1001	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SPRTN_ENST00000008440.9_Missense_Mutation_p.G179D|SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000391858.4_Missense_Mutation_p.G222D	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	222					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)	p.G222D(1)									TCAAAAAAAGGCAAAGGAAAG	0.418																																					p.G222D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G665A	1						.						98.0	96.0	96.0					1																	231487264		2203	4300	6503	229553887	SO:0001583	missense	83932	exon4			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.665G>A	1.37:g.231487264G>A	ENSP00000295050:p.Gly222Asp		229553887	NM_001010984	B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599009	0.66332	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000366644	T	0.44881	0.91	5.59	5.59	0.84812	.	0.197390	0.56097	D	0.000035	T	0.39627	0.1085	M	0.67953	2.075	0.41717	D	0.989487	B;B;B	0.23490	0.028;0.026;0.086	B;B;B	0.20767	0.018;0.027;0.031	T	0.19745	-1.0296	10	0.27785	T	0.31	-22.5403	10.4289	0.44395	0.0746:0.146:0.7794:0.0	.	179;222;222	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	D	222;222;179;118	ENSP00000295050:G222D	ENSP00000008440:G179D	G	+	2	0	C1orf124	229553887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.866000	0.56040	2.793000	0.96121	0.643000	0.83706	GGC		0.418	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018	
SIPA1L2	57568	broad.mit.edu	37	1	232596815	232596815	+	Silent	SNP	G	G	A	rs201836404		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:232596815G>A	ENST00000366630.1	-	9	3271	c.2913C>T	c.(2911-2913)gtC>gtT	p.V971V	SIPA1L2_ENST00000262861.4_Silent_p.V971V|SIPA1L2_ENST00000308942.4_Silent_p.V45V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	971	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.V971V(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCACATCTGCGACAATTCCTT	0.572																																					p.V971V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2913T	1						.						114.0	124.0	121.0					1																	232596815		2174	4286	6460	230663438	SO:0001819	synonymous_variant	57568	exon8			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2913C>T	1.37:g.232596815G>A			230663438	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	CCDS41474.1																																																																																				0.572	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
MAP10	54627	broad.mit.edu	37	1	232941958	232941958	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:232941958G>A	ENST00000418460.1	+	1	1316	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	255					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.E397K(2)									AAGTAAGGCCGAATGTGATAA	0.463																																					p.E397K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1189A	1						.						302.0	308.0	306.0					1																	232941958		1972	4156	6128	231008581	SO:0001583	missense	54627	exon1			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1189G>A	1.37:g.232941958G>A	ENSP00000403208:p.Glu397Lys		231008581	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	4.792	0.147267	0.09134	.	.	ENSG00000212916	ENST00000418460	.	.	.	4.76	-0.0947	0.13643	.	1.566800	0.04530	U	0.386211	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.27559	0.181	B	0.16289	0.015	T	0.15065	-1.0450	9	0.09338	T	0.73	1.894	8.6319	0.33924	0.5381:0.0:0.4619:0.0	.	255	Q9P2G4	K1383_HUMAN	K	397	.	ENSP00000403208:E397K	E	+	1	0	KIAA1383	231008581	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.034000	0.13776	-0.108000	0.12066	-0.367000	0.07326	GAA		0.463	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090	
MAP10	54627	broad.mit.edu	37	1	232942596	232942596	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:232942596G>T	ENST00000418460.1	+	1	1954	c.1827G>T	c.(1825-1827)aaG>aaT	p.K609N		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	467					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.K609N(2)									AGTATAAAAAGAACCAAATTG	0.418																																					p.K609N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1827T	1						.						27.0	27.0	27.0					1																	232942596		1850	4099	5949	231009219	SO:0001583	missense	54627	exon1			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1827G>T	1.37:g.232942596G>T	ENSP00000403208:p.Lys609Asn		231009219	NM_019090	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778544	0.49786	.	.	ENSG00000212916	ENST00000418460	.	.	.	6.08	1.97	0.26223	.	0.644555	0.12685	U	0.447656	T	0.58991	0.2161	M	0.62723	1.935	0.31502	N	0.664621	D	0.76494	0.999	D	0.74023	0.982	T	0.57481	-0.7804	9	0.32370	T	0.25	-3.1954	6.3902	0.21583	0.3198:0.1226:0.5576:0.0	.	467	Q9P2G4	K1383_HUMAN	N	609	.	ENSP00000403208:K609N	K	+	3	2	KIAA1383	231009219	0.984000	0.35163	0.882000	0.34594	0.399000	0.30720	2.128000	0.42045	0.445000	0.26639	0.655000	0.94253	AAG		0.418	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090	
PCNXL2	80003	broad.mit.edu	37	1	233160902	233160902	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:233160902T>C	ENST00000258229.9	-	26	4829	c.4595A>G	c.(4594-4596)tAc>tGc	p.Y1532C	PCNXL2_ENST00000344698.2_Missense_Mutation_p.Y184C	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1532						integral component of membrane (GO:0016021)		p.Y1532C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTGATGTAGTAGCGGATGAG	0.507																																					p.Y1532C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4595G	1						.						106.0	108.0	107.0					1																	233160902		2093	4241	6334	231227525	SO:0001583	missense	80003	exon26			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4595A>G	1.37:g.233160902T>C	ENSP00000258229:p.Tyr1532Cys		231227525	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857282	0.71834	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.26660	1.72;2.82	5.67	3.18	0.36537	.	0.109140	0.64402	D	0.000004	T	0.44993	0.1320	M	0.69463	2.115	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.68353	0.886;0.957	T	0.44050	-0.9353	10	0.87932	D	0	.	10.8862	0.46968	0.2507:0.0:0.0:0.7493	.	1532;184	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	C	184;1532	ENSP00000340759:Y184C;ENSP00000258229:Y1532C	ENSP00000258229:Y1532C	Y	-	2	0	PCNXL2	231227525	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	3.873000	0.56093	1.060000	0.40578	0.533000	0.62120	TAC		0.507	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
PCNXL2	80003	broad.mit.edu	37	1	233397867	233397867	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:233397867C>T	ENST00000258229.9	-	3	638	c.404G>A	c.(403-405)cGa>cAa	p.R135Q	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	135						integral component of membrane (GO:0016021)		p.R135Q(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAGAGGTTTCGACTGGCCTC	0.483																																					p.R135Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G404A	1						.						206.0	222.0	217.0					1																	233397867		1985	4156	6141	231464490	SO:0001583	missense	80003	exon3			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.404G>A	1.37:g.233397867C>T	ENSP00000258229:p.Arg135Gln		231464490	NM_014801	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312359	0.23908	.	.	ENSG00000135749	ENST00000258229	T	0.44881	0.91	5.2	1.09	0.20402	.	.	.	.	.	T	0.19685	0.0473	N	0.11255	0.115	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.23368	-1.0190	9	0.22109	T	0.4	.	4.8812	0.13681	0.0:0.4521:0.2916:0.2563	.	135	A6NKB5	PCX2_HUMAN	Q	135	ENSP00000258229:R135Q	ENSP00000258229:R135Q	R	-	2	0	PCNXL2	231464490	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.308000	0.08156	0.016000	0.14998	-0.136000	0.14681	CGA		0.483	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801	
ARID4B	51742	broad.mit.edu	37	1	235345171	235345171	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:235345171A>C	ENST00000264183.3	-	20	3560	c.3063T>G	c.(3061-3063)aaT>aaG	p.N1021K	ARID4B_ENST00000349213.3_Missense_Mutation_p.N935K|ARID4B_ENST00000366603.2_Missense_Mutation_p.N1021K|ARID4B_ENST00000494543.1_5'UTR	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1021					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N1021K(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TAGGAGGGGTATTTAGCACTG	0.448																																					p.N935K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2805G	1						.						109.0	108.0	108.0					1																	235345171		2203	4300	6503	233411794	SO:0001583	missense	51742	exon19			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3063T>G	1.37:g.235345171A>C	ENSP00000264183:p.Asn1021Lys		233411794	NM_031371	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.68|15.68	2.904308|2.904308	0.52333|0.52333	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|T;T;T	.|0.33438	.|1.41;1.54;1.54	5.18|5.18	0.0744|0.0744	0.14395|0.14395	.|.	.|0.138928	.|0.64402	.|D	.|0.000005	T|T	0.35913|0.35913	0.0948|0.0948	N|N	0.24115|0.24115	0.695|0.695	0.52099|0.52099	D|D	0.999949|0.999949	.|D;D;D;D	.|0.71674	.|0.998;0.996;0.996;0.993	.|D;D;D;D	.|0.80764	.|0.994;0.986;0.974;0.968	T|T	0.06862|0.06862	-1.0803|-1.0803	5|10	.|0.66056	.|D	.|0.02	-27.9266|-27.9266	10.6468|10.6468	0.45626|0.45626	0.6794:0.0:0.3206:0.0|0.6794:0.0:0.3206:0.0	.|.	.|702;1021;935;1021	.|Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.|.;.;.;ARI4B_HUMAN	R|K	421|1021;935;1021;1021	.|ENSP00000264184:N935K;ENSP00000355562:N1021K;ENSP00000264183:N1021K	.|ENSP00000264183:N1021K	I|N	-|-	2|3	0|2	ARID4B|ARID4B	233411794|233411794	0.977000|0.977000	0.34250|0.34250	0.960000|0.960000	0.40013|0.40013	0.996000|0.996000	0.88848|0.88848	0.616000|0.616000	0.24344|0.24344	-0.139000|-0.139000	0.11414|0.11414	0.477000|0.477000	0.44152|0.44152	ATA|AAT		0.448	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
B3GALNT2	148789	broad.mit.edu	37	1	235621958	235621958	+	Silent	SNP	G	G	A	rs368371048		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:235621958G>A	ENST00000366600.3	-	8	1206	c.978C>T	c.(976-978)gtC>gtT	p.V326V		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	326					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)	p.V326V(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GATAAGTGTCGACAACATCCA	0.338																																					p.V326V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C978T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	116.0	102.0	107.0		978	-11.1	0.0	1		107	0,8600		0,0,4300	no	coding-synonymous	B3GALNT2	NM_152490.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		326/501	235621958	1,13005	2203	4300	6503	233688581	SO:0001819	synonymous_variant	148789	exon8			BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.978C>T	1.37:g.235621958G>A			233688581	NM_152490	Q59GR3|Q5TCI3|Q96AL7	Silent	SNP	ENST00000366600.3	37	CCDS1606.1																																																																																				0.338	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490	
LYST	1130	broad.mit.edu	37	1	235969412	235969412	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:235969412C>A	ENST00000389794.3	-	6	3198	c.3024G>T	c.(3022-3024)gaG>gaT	p.E1008D	LYST_ENST00000389793.2_Missense_Mutation_p.E1008D|LYST_ENST00000536965.1_Missense_Mutation_p.E1008D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1008					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.E1008D(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTTCCTTGCTCCTCTTTGT	0.348																																					p.E1008D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3024T	1						.						84.0	93.0	90.0					1																	235969412		2203	4300	6503	234036035	SO:0001583	missense	1130	exon6			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3024G>T	1.37:g.235969412C>A	ENSP00000374444:p.Glu1008Asp		234036035	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	7.700	0.692874	0.15039	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.61742	0.08;0.08;1.22	5.04	-1.0	0.10196	.	0.700702	0.14786	N	0.298518	T	0.28830	0.0715	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.10451	-1.0629	10	0.29301	T	0.29	.	4.4817	0.11771	0.1475:0.4744:0.0:0.3781	.	1008;1008	Q99698-3;Q99698	.;LYST_HUMAN	D	1008	ENSP00000374444:E1008D;ENSP00000374443:E1008D;ENSP00000438315:E1008D	ENSP00000374443:E1008D	E	-	3	2	LYST	234036035	0.000000	0.05858	0.002000	0.10522	0.952000	0.60782	-1.412000	0.02476	-0.350000	0.08262	0.563000	0.77884	GAG		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
LYST	1130	broad.mit.edu	37	1	235972015	235972015	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:235972015A>G	ENST00000389794.3	-	5	2277	c.2103T>C	c.(2101-2103)ttT>ttC	p.F701F	LYST_ENST00000389793.2_Silent_p.F701F|LYST_ENST00000536965.1_Silent_p.F701F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	701					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.F701F(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTCTTCTTCAAAAACAAAGT	0.348																																					p.F701F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2103C	1						.						52.0	56.0	55.0					1																	235972015		2197	4296	6493	234038638	SO:0001819	synonymous_variant	1130	exon5			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2103T>C	1.37:g.235972015A>G			234038638	NM_000081	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	CCDS31062.1																																																																																				0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
NID1	4811	broad.mit.edu	37	1	236144974	236144974	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:236144974C>T	ENST00000264187.6	-	16	3246	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H	NID1_ENST00000366595.3_Missense_Mutation_p.R922H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1055					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R1055H(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GAGCACCCGGCGCTGCGTGCC	0.502																																					p.R1055H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3164A	1						.						84.0	82.0	82.0					1																	236144974		2203	4300	6503	234211597	SO:0001583	missense	4811	exon16			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3164G>A	1.37:g.236144974C>T	ENSP00000264187:p.Arg1055His		234211597	NM_002508	Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345956	0.95807	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.97553	-4.43;-4.43	5.88	5.88	0.94601	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98915	0.9632	M	0.93016	3.37	0.49299	D	0.999777	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99316	1.0905	10	0.87932	D	0	.	20.2266	0.98341	0.0:1.0:0.0:0.0	.	922;1055	P14543-2;P14543	.;NID1_HUMAN	H	1055;922	ENSP00000264187:R1055H;ENSP00000355554:R922H	ENSP00000264187:R1055H	R	-	2	0	NID1	234211597	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	6.040000	0.70980	2.769000	0.95229	0.655000	0.94253	CGC		0.502	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508	
EDARADD	128178	broad.mit.edu	37	1	236645716	236645716	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:236645716T>C	ENST00000334232.4	+	6	582	c.415T>C	c.(415-417)Tgg>Cgg	p.W139R	EDARADD_ENST00000359362.5_Missense_Mutation_p.W129R	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	139	Death.				cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)		p.W139R(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTGAAAAACTGGAGGAATTT	0.522																																					p.W139R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T415C	1						.						89.0	89.0	89.0					1																	236645716		2203	4300	6503	234712339	SO:0001583	missense	128178	exon6			AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.415T>C	1.37:g.236645716T>C	ENSP00000335076:p.Trp139Arg		234712339	NM_145861	A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Missense_Mutation	SNP	ENST00000334232.4	37	CCDS1610.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424672	0.83667	.	.	ENSG00000186197	ENST00000334232;ENST00000359362	D;D	0.91996	-2.95;-2.95	5.22	5.22	0.72569	Death (1);DEATH-like (2);	0.000000	0.64402	U	0.000002	D	0.93187	0.7830	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92495	0.6003	9	.	.	.	.	15.2696	0.73689	0.0:0.0:0.0:1.0	.	129;139	A8K7B5;Q8WWZ3	.;EDAD_HUMAN	R	139;129	ENSP00000335076:W139R;ENSP00000352320:W129R	.	W	+	1	0	EDARADD	234712339	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.519000	0.81809	2.196000	0.70406	0.533000	0.62120	TGG		0.522	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861	
LGALS8	3964	broad.mit.edu	37	1	236702220	236702220	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:236702220G>A	ENST00000366584.4	+	4	742	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	LGALS8_ENST00000526634.1_Missense_Mutation_p.R59Q|LGALS8_ENST00000526589.1_Missense_Mutation_p.R59Q|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000323938.6_Intron|LGALS8_ENST00000527974.1_Missense_Mutation_p.R59Q|LGALS8_ENST00000352231.2_Missense_Mutation_p.R59Q|LGALS8_ENST00000416919.2_Missense_Mutation_p.R59Q|LGALS8_ENST00000341872.6_Missense_Mutation_p.R59Q|LGALS8_ENST00000525042.1_Missense_Mutation_p.R59Q|LGALS8_ENST00000450372.2_Missense_Mutation_p.R59Q|RP11-385F5.5_ENST00000608547.1_RNA	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	59	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.	Critical for binding to sialylated and sulfated oligosaccharides.			plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.R59Q(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGAAACCTCGAGCCGATGTG	0.483																																					p.R59Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G176A	1						.						74.0	68.0	70.0					1																	236702220		2203	4300	6503	234768843	SO:0001583	missense	3964	exon4			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.176G>A	1.37:g.236702220G>A	ENSP00000355543:p.Arg59Gln		234768843	NM_201544	O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	Missense_Mutation	SNP	ENST00000366584.4	37	CCDS1612.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117797	0.94385	.	.	ENSG00000116977	ENST00000481485;ENST00000454943;ENST00000527974;ENST00000430527;ENST00000352231;ENST00000406509;ENST00000526589;ENST00000341872;ENST00000450372;ENST00000366584;ENST00000238181;ENST00000356238;ENST00000416919;ENST00000526634;ENST00000525042	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.01	5.01	0.66863	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.063690	0.64402	D	0.000005	T	0.34454	0.0898	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.985	T	0.04242	-1.0966	10	0.62326	D	0.03	.	18.4977	0.90870	0.0:0.0:1.0:0.0	.	59;59;59	F6V2D4;O00214;O00214-2	.;LEG8_HUMAN;.	Q	59	ENSP00000435632:R59Q;ENSP00000405504:R59Q;ENSP00000431398:R59Q;ENSP00000398630:R59Q;ENSP00000309576:R59Q;ENSP00000385999:R59Q;ENSP00000435460:R59Q;ENSP00000342139:R59Q;ENSP00000408657:R59Q;ENSP00000355543:R59Q;ENSP00000238181:R59Q;ENSP00000410843:R59Q;ENSP00000437040:R59Q;ENSP00000431884:R59Q	ENSP00000238181:R59Q	R	+	2	0	LGALS8	234768843	1.000000	0.71417	0.037000	0.18230	0.887000	0.51463	9.263000	0.95617	2.600000	0.87896	0.655000	0.94253	CGA		0.483	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000096365.2	NM_006499	
HEATR1	55127	broad.mit.edu	37	1	236735752	236735752	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:236735752A>G	ENST00000366582.3	-	26	3780	c.3666T>C	c.(3664-3666)agT>agC	p.S1222S	HEATR1_ENST00000366581.2_Silent_p.S1141S	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1222					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.S1222S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATATCTGAGGACTTCTGAGCT	0.398																																					p.S1222S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3666C	1						.						154.0	143.0	146.0					1																	236735752		2203	4300	6503	234802375	SO:0001819	synonymous_variant	55127	exon26			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3666T>C	1.37:g.236735752A>G			234802375	NM_018072	Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	CCDS31066.1																																																																																				0.398	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	
ACTN2	88	broad.mit.edu	37	1	236912555	236912555	+	Silent	SNP	G	G	A	rs368984334		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:236912555G>A	ENST00000366578.4	+	14	1813	c.1647G>A	c.(1645-1647)gaG>gaA	p.E549E	ACTN2_ENST00000546208.1_Silent_p.E43E|ACTN2_ENST00000542672.1_Silent_p.E549E	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	549					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.E549E(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACAGCATTGAGGAGATCCAGG	0.438																																					p.E549E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1647A	1						.	G		0,4406		0,0,2203	100.0	89.0	93.0		1647	1.6	1.0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACTN2	NM_001103.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		549/895	236912555	1,13005	2203	4300	6503	234979178	SO:0001819	synonymous_variant	88	exon14			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1647G>A	1.37:g.236912555G>A			234979178	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																				0.438	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
ACTN2	88	broad.mit.edu	37	1	236918326	236918326	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:236918326C>T	ENST00000366578.4	+	17	2148	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	ACTN2_ENST00000546208.1_Missense_Mutation_p.A155V|ACTN2_ENST00000542672.1_Missense_Mutation_p.A661V	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	661					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.A661V(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CAGGAGATTGCCCGGAGCTCC	0.557																																					p.A661V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1982T	1						.						99.0	100.0	99.0					1																	236918326		2203	4300	6503	234984949	SO:0001583	missense	88	exon17			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1982C>T	1.37:g.236918326C>T	ENSP00000355537:p.Ala661Val		234984949	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397501	0.42512	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.52754	0.65;0.65;0.65	4.62	4.62	0.57501	.	0.337088	0.33534	N	0.004807	T	0.29223	0.0727	N	0.11000	0.08	0.47949	D	0.99955	P;B;P;P	0.44139	0.59;0.004;0.827;0.739	B;B;B;B	0.40256	0.324;0.003;0.324;0.153	T	0.11397	-1.0589	10	0.34782	T	0.22	.	13.2533	0.60064	0.0:0.8405:0.1595:0.0	.	446;661;431;661	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	V	661;661;155;430	ENSP00000443495:A661V;ENSP00000355537:A661V;ENSP00000438384:A155V	ENSP00000355537:A661V	A	+	2	0	ACTN2	234984949	0.996000	0.38824	1.000000	0.80357	0.910000	0.53928	2.852000	0.48310	2.100000	0.63781	0.557000	0.71058	GCC		0.557	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
ZNF436	80818	broad.mit.edu	37	1	23689581	23689581	+	Silent	SNP	G	G	A	rs113736308	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:23689581G>A	ENST00000314011.4	-	4	430	c.294C>T	c.(292-294)agC>agT	p.S98S	ZNF436_ENST00000374608.3_Silent_p.S98S	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S98S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACCTATCTCCGCTTTCAAAGC	0.443													g|||	6	0.00119808	0.0045	0.0	5008	,	,		19577	0.0		0.0	False		,,,				2504	0.0				p.S98S												.	.	1	Substitution - coding silent(1)	endometrium(1)	c.C294T	1						.	A	,	14,4392	21.2+/-45.6	0,14,2189	186.0	189.0	188.0		294,294	-6.5	0.0	1	dbSNP_132	188	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF436	NM_001077195.1,NM_030634.2	,	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	,	98/471,98/471	23689581	14,12992	2203	4300	6503	23562168	SO:0001819	synonymous_variant	80818	exon3			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.294C>T	1.37:g.23689581G>A			23562168	NM_030634	Q658I9	Silent	SNP	ENST00000314011.4	37	CCDS233.1																																																																																				0.443	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634	
ACTN2	88	broad.mit.edu	37	1	236920872	236920872	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:236920872G>A	ENST00000366578.4	+	18	2407	c.2241G>A	c.(2239-2241)gcG>gcA	p.A747A	ACTN2_ENST00000546208.1_Silent_p.A241A|ACTN2_ENST00000542672.1_Silent_p.A747A	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	747					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.A747A(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGAGAGATGCGAAGGGCATCA	0.502																																					p.A747A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2241A	1						.						144.0	123.0	130.0					1																	236920872		2203	4300	6503	234987495	SO:0001819	synonymous_variant	88	exon18			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2241G>A	1.37:g.236920872G>A			234987495	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	CCDS1613.1																																																																																				0.502	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
RYR2	6262	broad.mit.edu	37	1	237711856	237711856	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:237711856G>A	ENST00000366574.2	+	26	3349	c.3032G>A	c.(3031-3033)cGa>cAa	p.R1011Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R1009Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R995Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1011	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R1009Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCGCGGGATCGAATCCGGCAG	0.473																																					p.R1011Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3032A	1						.						60.0	57.0	58.0					1																	237711856		1936	4145	6081	235778479	SO:0001583	missense	6262	exon26			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3032G>A	1.37:g.237711856G>A	ENSP00000355533:p.Arg1011Gln		235778479	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.753761	0.96890	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92348	-3.02;-3.02;-3.02	5.73	5.73	0.89815	Ryanodine receptor Ryr (1);	0.000000	0.56097	D	0.000028	D	0.95965	0.8686	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	P	0.58130	0.833	D	0.95883	0.8900	10	0.72032	D	0.01	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	1011	Q92736	RYR2_HUMAN	Q	1011;1009;995	ENSP00000355533:R1011Q;ENSP00000353174:R1009Q;ENSP00000443798:R995Q	ENSP00000353174:R1009Q	R	+	2	0	RYR2	235778479	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.643000	0.98464	2.854000	0.98071	0.655000	0.94253	CGA		0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237806638	237806638	+	Silent	SNP	C	C	T	rs367994477	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:237806638C>T	ENST00000366574.2	+	48	7550	c.7233C>T	c.(7231-7233)gcC>gcT	p.A2411A	RYR2_ENST00000360064.6_Silent_p.A2409A|RYR2_ENST00000542537.1_Silent_p.A2395A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2411	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A2409A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGATTCATGCCGGGAAGGGAG	0.413													T|||	3	0.000599042	0.0023	0.0	5008	,	,		15319	0.0		0.0	False		,,,				2504	0.0				p.A2411A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7233T	1						.	T		5,3711		0,5,1853	179.0	168.0	171.0		7233	3.3	1.0	1		171	1,8179		0,1,4089	no	coding-synonymous	RYR2	NM_001035.2		0,6,5942	TT,TC,CC		0.0122,0.1346,0.0504		2411/4968	237806638	6,11890	1858	4090	5948	235873261	SO:0001819	synonymous_variant	6262	exon48			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7233C>T	1.37:g.237806638C>T			235873261	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237865313	237865313	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:237865313A>G	ENST00000366574.2	+	66	9720	c.9403A>G	c.(9403-9405)Act>Gct	p.T3135A	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.T3133A|RYR2_ENST00000542537.1_Missense_Mutation_p.T3119A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3135					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T3133A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGAATTCTGACTAGCTTATA	0.343																																					p.T3135A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9403G	1						.						132.0	120.0	124.0					1																	237865313		1814	4079	5893	235931936	SO:0001583	missense	6262	exon66			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9403A>G	1.37:g.237865313A>G	ENSP00000355533:p.Thr3135Ala		235931936	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	9.994	1.231630	0.22626	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	T;T;T	0.29655	1.56;1.56;1.56	4.83	4.83	0.62350	.	0.306413	0.25299	U	0.031662	T	0.16557	0.0398	L	0.28274	0.84	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15435	-1.0437	10	0.16420	T	0.52	.	3.3528	0.07158	0.5529:0.0:0.1267:0.3203	.	3135	Q92736	RYR2_HUMAN	A	3135;3133;3119;90;130	ENSP00000355533:T3135A;ENSP00000353174:T3133A;ENSP00000443798:T3119A	ENSP00000353174:T3133A	T	+	1	0	RYR2	235931936	0.883000	0.30277	1.000000	0.80357	0.988000	0.76386	1.824000	0.39072	1.920000	0.55613	0.467000	0.42956	ACT		0.343	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237949284	237949284	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:237949284G>T	ENST00000366574.2	+	91	13593	c.13276G>T	c.(13276-13278)Gaa>Taa	p.E4426*	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4432*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4410*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4426	Glu-rich (acidic).				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E4424*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGGCAAaagaagaagaaaa	0.378																																					p.E4426X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G13276T	1						.						90.0	91.0	91.0					1																	237949284		1835	4084	5919	236015907	SO:0001587	stop_gained	6262	exon91			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13276G>T	1.37:g.237949284G>T	ENSP00000355533:p.Glu4426*		236015907	NM_001035	Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	54	21.707404	0.99942	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	3.74	2.72	0.32119	.	0.466156	0.19601	N	0.110394	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-3.9582	9.9164	0.41436	0.0:0.2084:0.7916:0.0	.	.	.	.	X	4426;4432;4410;1400	.	ENSP00000353174:E4432X	E	+	1	0	RYR2	236015907	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.383000	0.52471	1.797000	0.52628	0.655000	0.94253	GAA		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237954797	237954797	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:237954797C>A	ENST00000366574.2	+	93	13862	c.13545C>A	c.(13543-13545)ttC>ttA	p.F4515L	RYR2_ENST00000360064.6_Missense_Mutation_p.F4521L|RYR2_ENST00000542537.1_Missense_Mutation_p.F4499L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4515					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F4513L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATCAATTTCATCTTGCTCT	0.323																																					p.F4515L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13545A	1						.						198.0	171.0	180.0					1																	237954797		1841	4086	5927	236021420	SO:0001583	missense	6262	exon93			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13545C>A	1.37:g.237954797C>A	ENSP00000355533:p.Phe4515Leu		236021420	NM_001035	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001951	0.54254	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95788	-3.81;-3.81;-3.81	4.9	2.99	0.34606	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000006	D	0.96476	0.8850	M	0.69358	2.11	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	D	0.95827	0.8855	10	0.66056	D	0.02	.	9.4483	0.38710	0.0:0.769:0.0:0.231	.	4515	Q92736	RYR2_HUMAN	L	4515;4521;4499	ENSP00000355533:F4515L;ENSP00000353174:F4521L;ENSP00000443798:F4499L	ENSP00000353174:F4521L	F	+	3	2	RYR2	236021420	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	0.720000	0.25896	1.197000	0.43143	0.555000	0.69702	TTC		0.323	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
RYR2	6262	broad.mit.edu	37	1	237982395	237982395	+	Silent	SNP	C	C	T	rs375456172		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:237982395C>T	ENST00000366574.2	+	101	14810	c.14493C>T	c.(14491-14493)atC>atT	p.I4831I	RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4831					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I4829I(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATGAAATCGAAGACCCAG	0.413																																					p.I4831I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C14493T	1						.	C		1,3871		0,1,1935	214.0	214.0	214.0		14493	-4.7	0.9	1		214	0,8270		0,0,4135	no	coding-synonymous	RYR2	NM_001035.2		0,1,6070	TT,TC,CC		0.0,0.0258,0.0082		4831/4968	237982395	1,12141	1936	4135	6071	236049018	SO:0001819	synonymous_variant	6262	exon101			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14493C>T	1.37:g.237982395C>T			236049018	NM_001035	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
CHRM3	1131	broad.mit.edu	37	1	240071378	240071378	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:240071378C>A	ENST00000255380.4	+	5	1406	c.627C>A	c.(625-627)taC>taA	p.Y209*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	209					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.Y209*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCTGGCAATACTTTGTTGGAA	0.502																																					p.Y209X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C627A	1						.						182.0	187.0	186.0					1																	240071378		2203	4300	6503	238138001	SO:0001587	stop_gained	1131	exon5			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.627C>A	1.37:g.240071378C>A	ENSP00000255380:p.Tyr209*		238138001	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Nonsense_Mutation	SNP	ENST00000255380.4	37	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	40	8.387346	0.98789	.	.	ENSG00000133019	ENST00000255380	.	.	.	5.79	2.96	0.34315	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.3484	8.5847	0.33651	0.0:0.6415:0.0:0.3585	.	.	.	.	X	209	.	ENSP00000255380:Y209X	Y	+	3	2	CHRM3	238138001	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	0.754000	0.26390	0.386000	0.24997	-0.142000	0.14014	TAC		0.502	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740	
FMN2	56776	broad.mit.edu	37	1	240341335	240341335	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:240341335G>A	ENST00000319653.9	+	3	2127	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	633					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.D776N(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAACCTCCCGATGAGGAACA	0.483																																					p.D633N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1897A	1						.						99.0	95.0	96.0					1																	240341335		2203	4300	6503	238407958	SO:0001583	missense	56776	exon3			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1897G>A	1.37:g.240341335G>A	ENSP00000318884:p.Asp633Asn		238407958	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	8.146	0.786347	0.16189	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T;T	0.80566	-1.39;-1.39	5.37	3.48	0.39840	.	0.611616	0.16020	N	0.233367	T	0.73071	0.3540	M	0.66939	2.045	0.80722	D	1	P	0.40681	0.727	B	0.27262	0.078	T	0.73110	-0.4086	10	0.87932	D	0	.	9.5207	0.39133	0.0753:0.1425:0.7822:0.0	.	633	Q9NZ56	FMN2_HUMAN	N	66;633	ENSP00000409308:D66N;ENSP00000318884:D633N	ENSP00000318884:D633N	D	+	1	0	FMN2	238407958	0.997000	0.39634	0.497000	0.27552	0.014000	0.08584	2.790000	0.47821	0.812000	0.34326	0.650000	0.86243	GAT		0.483	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
RGS7	6000	broad.mit.edu	37	1	240975222	240975222	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:240975222A>C	ENST00000407727.1	-	13	1077	c.1078T>G	c.(1078-1080)Tta>Gta	p.L360V	RGS7_ENST00000366565.1_Missense_Mutation_p.L360V|RGS7_ENST00000446183.2_Missense_Mutation_p.L276V|RGS7_ENST00000366563.1_Missense_Mutation_p.L360V|RGS7_ENST00000401882.1_Missense_Mutation_p.L307V|RGS7_ENST00000366564.1_Missense_Mutation_p.L360V|RGS7_ENST00000348120.2_Missense_Mutation_p.L307V|RGS7_ENST00000331110.7_Missense_Mutation_p.L334V|RGS7_ENST00000366562.4_Missense_Mutation_p.L360V			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	360	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.L360V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTACCTTAAATTTTCCGAG	0.388																																					p.L360V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1078G	1						.						66.0	71.0	69.0					1																	240975222		2203	4299	6502	239041845	SO:0001583	missense	6000	exon14			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1078T>G	1.37:g.240975222A>C	ENSP00000384428:p.Leu360Val		239041845	NM_002924	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37		.	.	.	.	.	.	.	.	.	.	A	19.46	3.830904	0.71258	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.8	5.8	0.92144	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.58836	0.2150	M	0.73598	2.24	0.53688	D	0.999971	P;B;P;D;P;D;P	0.63880	0.88;0.37;0.455;0.983;0.625;0.993;0.707	P;P;B;P;B;P;P	0.60949	0.881;0.448;0.413;0.88;0.413;0.88;0.672	T	0.63897	-0.6533	10	0.87932	D	0	.	9.7587	0.40519	0.9239:0.0:0.0761:0.0	.	276;334;307;360;360;360;360	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	V	334;360;360;360;191;307;276;360;360;307	ENSP00000331485:L334V;ENSP00000355523:L360V;ENSP00000355522:L360V;ENSP00000355521:L360V;ENSP00000404399:L191V;ENSP00000341242:L307V;ENSP00000390138:L276V;ENSP00000355520:L360V;ENSP00000384428:L360V;ENSP00000385508:L307V	ENSP00000331485:L334V	L	-	1	2	RGS7	239041845	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.635000	0.54309	2.226000	0.72624	0.459000	0.35465	TTA		0.388	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924	
KMO	8564	broad.mit.edu	37	1	241729877	241729877	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:241729877G>T	ENST00000366559.4	+	9	1085	c.774G>T	c.(772-774)caG>caT	p.Q258H	KMO_ENST00000366558.3_Missense_Mutation_p.Q258H|KMO_ENST00000366557.4_Missense_Mutation_p.Q258H	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.Q258H(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATTTCTTCCAGAAATACTTTC	0.348																																					p.Q258H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G774T	1						.						110.0	108.0	109.0					1																	241729877		2203	4300	6503	239796500	SO:0001583	missense	8564	exon9			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.774G>T	1.37:g.241729877G>T	ENSP00000355517:p.Gln258His		239796500	NM_003679		Missense_Mutation	SNP	ENST00000366559.4	37	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949371	0.34377	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.52295	0.67;0.67;0.67	5.92	3.04	0.35103	Monooxygenase, FAD-binding (1);	0.316151	0.40144	N	0.001179	T	0.34774	0.0909	L	0.38953	1.18	0.38945	D	0.958224	B;B;B	0.13594	0.008;0.005;0.007	B;B;B	0.11329	0.006;0.006;0.004	T	0.14200	-1.0481	10	0.48119	T	0.1	.	7.7803	0.29062	0.1474:0.1474:0.7051:0.0	.	258;258;258	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	H	258	ENSP00000355517:Q258H;ENSP00000355516:Q258H;ENSP00000355515:Q258H	ENSP00000355515:Q258H	Q	+	3	2	KMO	239796500	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	0.752000	0.26362	0.399000	0.25367	0.650000	0.86243	CAG		0.348	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679	
OPN3	23596	broad.mit.edu	37	1	241767831	241767831	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:241767831G>A	ENST00000366554.2	-	2	530	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	142					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)	p.R142C(1)		endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGGACCACGCGAATGTAACGT	0.542																																					p.R142C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424T	1						.						74.0	72.0	73.0					1																	241767831		2203	4300	6503	239834454	SO:0001583	missense	23596	exon2			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.424C>T	1.37:g.241767831G>A	ENSP00000355512:p.Arg142Cys		239834454	NM_014322	Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399641	0.62177	.	.	ENSG00000054277	ENST00000366554	T	0.36878	1.23	5.24	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.29058	-1.0024	10	0.48119	T	0.1	.	5.4616	0.16619	0.07:0.1229:0.555:0.2521	.	142	Q9H1Y3	OPN3_HUMAN	C	142	ENSP00000355512:R142C	ENSP00000355512:R142C	R	-	1	0	OPN3	239834454	1.000000	0.71417	0.442000	0.26870	0.996000	0.88848	3.325000	0.52030	0.602000	0.29896	0.650000	0.86243	CGC		0.542	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322	
CEP170	9859	broad.mit.edu	37	1	243303262	243303262	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:243303262G>A	ENST00000366542.1	-	16	4258	c.4207C>T	c.(4207-4209)Cgg>Tgg	p.R1403W	CEP170_ENST00000366543.1_Missense_Mutation_p.R1279W|CEP170_ENST00000366544.1_Missense_Mutation_p.R1305W|CEP170_ENST00000481987.1_Missense_Mutation_p.R139W|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Missense_Mutation_p.R112W|RP11-261C10.5_ENST00000439562.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1403	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.R1403W(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CAGGTTCTCCGCCTTGTAATT	0.428																																					p.R1279W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3835T	1						.						43.0	42.0	42.0					1																	243303262		1831	4079	5910	241369885	SO:0001583	missense	9859	exon15			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4207C>T	1.37:g.243303262G>A	ENSP00000355500:p.Arg1403Trp		241369885	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361382	0.61403	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813;ENST00000413359;ENST00000464936	T;T;T	0.51325	0.73;0.71;0.75	5.27	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.58101	1.795	0.51233	D	0.999914	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.995;0.995;0.996	T	0.65319	-0.6197	10	0.87932	D	0	-9.9077	12.9602	0.58453	0.0:0.0:0.4435:0.5565	.	1376;1305;1279;1403	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	W	1403;1305;1279;139;338;112;195;112	ENSP00000355500:R1403W;ENSP00000355502:R1305W;ENSP00000355501:R1279W	ENSP00000355500:R1403W	R	-	1	2	CEP170	241369885	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.441000	0.44864	0.669000	0.31146	0.557000	0.71058	CGG		0.428	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
CEP170	9859	broad.mit.edu	37	1	243363825	243363825	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:243363825G>T	ENST00000366542.1	-	6	542	c.491C>A	c.(490-492)gCc>gAc	p.A164D	CEP170_ENST00000366543.1_Missense_Mutation_p.A164D|CEP170_ENST00000366544.1_Missense_Mutation_p.A164D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	164						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.A164D(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTTACCCATGGCTTTTTCCTC	0.423																																					p.A164D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C491A	1						.						11.0	10.0	10.0					1																	243363825		1788	4017	5805	241430448	SO:0001583	missense	9859	exon6			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.491C>A	1.37:g.243363825G>T	ENSP00000355500:p.Ala164Asp		241430448	NM_001042405	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.900|7.900	0.734184|0.734184	0.15574|0.15574	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.30182|.	1.54;1.54;1.54|.	4.96|4.96	4.05|4.05	0.47172|0.47172	.|.	0.761271|.	0.12407|.	N|.	0.471598|.	T|T	0.43700|0.43700	0.1259|0.1259	L|L	0.27053|0.27053	0.805|0.805	0.35033|0.35033	D|D	0.759002|0.759002	B;B;B|.	0.22480|.	0.039;0.06;0.07|.	B;B;B|.	0.23419|.	0.043;0.029;0.046|.	T|T	0.52260|0.52260	-0.8599|-0.8599	10|5	0.29301|.	T|.	0.29|.	-0.475|-0.475	9.9283|9.9283	0.41505|0.41505	0.1564:0.0:0.8436:0.0|0.1564:0.0:0.8436:0.0	.|.	164;164;164|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	D|T	164;164;164;62|66	ENSP00000355500:A164D;ENSP00000355502:A164D;ENSP00000355501:A164D|.	ENSP00000355500:A164D|.	A|P	-|-	2|1	0|0	CEP170|CEP170	241430448|241430448	0.031000|0.031000	0.19500|0.19500	0.236000|0.236000	0.24074|0.24074	0.747000|0.747000	0.42532|0.42532	1.773000|1.773000	0.38563|0.38563	1.233000|1.233000	0.43693|0.43693	0.555000|0.555000	0.69702|0.69702	GCC|CCA		0.423	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
C1orf100	200159	broad.mit.edu	37	1	244541909	244541909	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:244541909G>A	ENST00000308105.4	+	4	406	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	C1orf100_ENST00000470211.1_3'UTR|RP11-518L10.5_ENST00000417765.1_RNA|C1orf100_ENST00000366537.1_Missense_Mutation_p.R66Q	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	98								p.R98Q(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			ACCACTTACCGACGAGACTAT	0.433																																					p.R98Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G293A	1						.						96.0	88.0	91.0					1																	244541909		2203	4300	6503	242608532	SO:0001583	missense	200159	exon4			BC054479	CCDS31079.1, CCDS60465.1	1q44	2008-02-05			ENSG00000173728	ENSG00000173728			30435	protein-coding gene	gene with protein product							Standard	NM_001276348		Approved		uc001iah.4	Q5SVJ3	OTTHUMG00000040104	ENST00000308105.4:c.293G>A	1.37:g.244541909G>A	ENSP00000311218:p.Arg98Gln		242608532	NM_001012970	Q5SVJ4	Missense_Mutation	SNP	ENST00000308105.4	37	CCDS31079.1	.	.	.	.	.	.	.	.	.	.	G	0.757	-0.770623	0.02974	.	.	ENSG00000173728	ENST00000366537;ENST00000308105	.	.	.	4.94	3.81	0.43845	.	0.413252	0.23165	N	0.051186	T	0.05410	0.0143	N	0.00170	-1.935	0.19775	N	0.999955	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37174	-0.9717	9	0.02654	T	1	-0.0022	7.1975	0.25862	0.9006:0.0:0.0994:0.0	.	66;98	Q5SVJ3-2;Q5SVJ3	.;CA100_HUMAN	Q	66;98	.	ENSP00000311218:R98Q	R	+	2	0	C1orf100	242608532	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	2.510000	0.45468	0.919000	0.36945	-0.238000	0.12139	CGA		0.433	C1orf100-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096712.1	NM_001012970	
ADSS	159	broad.mit.edu	37	1	244574619	244574619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:244574619G>A	ENST00000366535.3	-	12	1604	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.R430*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TCAATAAATCGAACATAGTTT	0.313																																					p.R430X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1288T	1						.						142.0	137.0	139.0					1																	244574619		2203	4299	6502	242641242	SO:0001587	stop_gained	159	exon12			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1288C>T	1.37:g.244574619G>A	ENSP00000355493:p.Arg430*		242641242	NM_001126		Nonsense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	G	40	7.963506	0.98585	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	.	.	.	5.81	5.81	0.92471	.	0.222912	0.47852	D	0.000210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9745	20.0896	0.97814	0.0:0.0:1.0:0.0	.	.	.	.	X	430;409	.	ENSP00000355493:R430X	R	-	1	2	ADSS	242641242	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.426000	0.73374	2.741000	0.93983	0.650000	0.86243	CGA		0.313	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126	
KIF26B	55083	broad.mit.edu	37	1	245704112	245704112	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:245704112C>T	ENST00000407071.2	+	5	1650	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	KIF26B_ENST00000366518.4_Missense_Mutation_p.R23W	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	404					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R404W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAAGAAACATCGGCCTTCCAC	0.517																																					p.R404W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1210T	1						.						98.0	99.0	98.0					1																	245704112		1867	4100	5967	243770735	SO:0001583	missense	55083	exon5			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1210C>T	1.37:g.245704112C>T	ENSP00000385545:p.Arg404Trp		243770735	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	9.241	1.038287	0.19669	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.79554	-1.18;-1.28	5.44	3.53	0.40419	.	.	.	.	.	D	0.85725	0.5763	L	0.51422	1.61	0.26170	N	0.979871	D;D	0.89917	1.0;0.999	D;D	0.66497	0.944;0.944	T	0.77877	-0.2424	9	0.66056	D	0.02	.	13.6032	0.62031	0.5825:0.4175:0.0:0.0	.	23;404	B7WPD9;Q2KJY2	.;KI26B_HUMAN	W	404;23;20	ENSP00000385545:R404W;ENSP00000355475:R23W	ENSP00000355475:R23W	R	+	1	2	KIF26B	243770735	0.906000	0.30813	0.030000	0.17652	0.110000	0.19582	1.893000	0.39758	0.629000	0.30376	-0.122000	0.15005	CGG		0.517	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
KIF26B	55083	broad.mit.edu	37	1	245862260	245862260	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:245862260G>A	ENST00000407071.2	+	14	6539	c.6099G>A	c.(6097-6099)gcG>gcA	p.A2033A	KIF26B_ENST00000366518.4_Silent_p.A1652A	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2033					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A2033A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGTCCGCGCGAAGTACGAGT	0.567																																					p.A2033A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G6099A	1						.						73.0	81.0	78.0					1																	245862260		2106	4225	6331	243928883	SO:0001819	synonymous_variant	55083	exon14			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6099G>A	1.37:g.245862260G>A			243928883	NM_018012	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																				0.567	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354	
SMYD3	64754	broad.mit.edu	37	1	246493832	246493832	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:246493832C>A	ENST00000388985.4	-	4	343	c.344G>T	c.(343-345)gGa>gTa	p.G115V	SMYD3_ENST00000403792.3_Missense_Mutation_p.G115V|SMYD3_ENST00000490107.1_Missense_Mutation_p.G56V|SMYD3_ENST00000541742.1_Missense_Mutation_p.G56V			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	115	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)	p.G56V(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TGAAGGTGCTCCATCCATCTG	0.318																																					p.G56V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167T	1						.						69.0	73.0	71.0					1																	246493832		2203	4300	6503	244560455	SO:0001583	missense	64754	exon4			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.344G>T	1.37:g.246493832C>A	ENSP00000373637:p.Gly115Val		244560455	NM_022743	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Missense_Mutation	SNP	ENST00000388985.4	37	CCDS53486.1	.	.	.	.	.	.	.	.	.	.	C	5.963	0.361676	0.11296	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000388985;ENST00000453676;ENST00000403792;ENST00000455277	T;T;T;T;T	0.50001	1.77;1.77;1.79;1.37;0.76	5.33	2.82	0.32997	SET domain (2);	1.302520	0.05239	N	0.511737	T	0.40473	0.1118	L	0.39898	1.24	0.45621	D	0.998558	B	0.21309	0.054	B	0.20577	0.03	T	0.05419	-1.0886	10	0.30078	T	0.28	-20.4382	7.4805	0.27402	0.0:0.1964:0.0:0.8036	.	115	Q9H7B4	SMYD3_HUMAN	V	56;56;115;56;115;56	ENSP00000444184:G56V;ENSP00000419184:G56V;ENSP00000373637:G115V;ENSP00000408122:G56V;ENSP00000385380:G115V	ENSP00000373637:G115V	G	-	2	0	SMYD3	244560455	1.000000	0.71417	0.947000	0.38551	0.020000	0.10135	1.573000	0.36472	0.342000	0.23796	-0.355000	0.07637	GGA		0.318	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022743	
ZNF670	93474	broad.mit.edu	37	1	247200863	247200863	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:247200863C>T	ENST00000366503.2	-	4	1216	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R353Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTCATGGCTTCGAAGGGCACT	0.413																																					p.R353Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1058A	1						.						105.0	101.0	103.0					1																	247200863		2203	4300	6503	245267486	SO:0001583	missense	93474	exon4				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.1058G>A	1.37:g.247200863C>T	ENSP00000355459:p.Arg353Gln		245267486	NM_033213		Missense_Mutation	SNP	ENST00000366503.2	37	CCDS31087.1	.	.	.	.	.	.	.	.	.	.	C	2.594	-0.294611	0.05568	.	.	ENSG00000135747	ENST00000366503	T	0.07444	3.19	0.641	-0.455	0.12193	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	N	0.17872	0.535	0.09310	N	1	B	0.27229	0.172	B	0.13407	0.009	T	0.43032	-0.9416	9	0.05351	T	0.99	.	3.8472	0.08940	0.0:0.4369:0.0:0.5631	.	353	Q9BS34	ZN670_HUMAN	Q	353	ENSP00000355459:R353Q	ENSP00000355459:R353Q	R	-	2	0	ZNF670	245267486	0.000000	0.05858	0.006000	0.13384	0.024000	0.10985	-1.132000	0.03235	-0.219000	0.10003	-0.373000	0.07131	CGA		0.413	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213	
ZNF670	93474	broad.mit.edu	37	1	247201653	247201653	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:247201653A>G	ENST00000366503.2	-	4	426	c.268T>C	c.(268-270)Ttg>Ctg	p.L90L		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L90L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TTCAGATTCAAATTTGAATCC	0.373																																					p.L90L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T268C	1						.						78.0	81.0	80.0					1																	247201653		2203	4299	6502	245268276	SO:0001819	synonymous_variant	93474	exon4				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"""Zinc fingers, C2H2-type"", ""-"""	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.268T>C	1.37:g.247201653A>G			245268276	NM_033213		Silent	SNP	ENST00000366503.2	37	CCDS31087.1																																																																																				0.373	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098183.3	NM_033213	
ZNF124	7678	broad.mit.edu	37	1	247320008	247320008	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:247320008G>A	ENST00000543802.2	-	4	1005	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	ZNF124_ENST00000491848.1_5'Flank|ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000340684.6_Missense_Mutation_p.R244C|ZNF124_ENST00000472531.1_Intron			Q15973	ZN124_HUMAN	zinc finger protein 124	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R244C(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCATGGTCACGAAGGGAACTG	0.418																																					p.R244C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730T	1						.						132.0	126.0	128.0					1																	247320008		2203	4300	6503	245386631	SO:0001583	missense	7678	exon4			S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.916C>T	1.37:g.247320008G>A	ENSP00000440365:p.Arg306Cys		245386631	NM_003431	B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Missense_Mutation	SNP	ENST00000543802.2	37		.	.	.	.	.	.	.	.	.	.	G	10.16	1.272908	0.23221	.	.	ENSG00000196418	ENST00000366499;ENST00000340684;ENST00000543802	T	0.03004	4.08	0.864	0.864	0.19068	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11367	0.0277	M	0.74467	2.265	0.09310	N	1	D;D	0.89917	1.0;0.999	P;B	0.60415	0.874;0.33	T	0.14144	-1.0483	9	0.36615	T	0.2	.	7.5457	0.27766	0.0:0.0:1.0:0.0	.	306;244	Q15973;Q15973-4	ZN124_HUMAN;.	C	267;244;250	ENSP00000340749:R244C	ENSP00000340749:R244C	R	-	1	0	ZNF124	245386631	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-1.996000	0.01471	0.746000	0.32786	0.467000	0.42956	CGT		0.418	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1	NM_003431	
VN1R5	317705	broad.mit.edu	37	1	247419477	247419477	+	IGR	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:247419477A>C								RP11-488L18.8 (14352 upstream) : Y_RNA (38659 downstream)																							TTTCCTTCTAAGATGATCAAA	0.333																																					p.K35T												.	.	0			c.A104C	1						.						119.0	120.0	120.0					1																	247419477		1826	4081	5907	245486100	SO:0001628	intergenic_variant	317705	exon1																															1.37:g.247419477A>C			245486100	NM_173858		Missense_Mutation	SNP		37																																																																																				0	0.333								
NLRP3	114548	broad.mit.edu	37	1	247588026	247588026	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:247588026G>A	ENST00000336119.3	+	3	2027	c.1281G>A	c.(1279-1281)gaG>gaA	p.E427E	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.E427E|NLRP3_ENST00000391827.2_Silent_p.E427E|NLRP3_ENST00000391828.3_Silent_p.E427E|NLRP3_ENST00000366497.2_Silent_p.E427E|NLRP3_ENST00000366496.2_Silent_p.E427E	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	427	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.E427E(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGCAGATGGAGAGTGGCAAGA	0.582																																					p.E427E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1281A	1						.						106.0	86.0	93.0					1																	247588026		2203	4300	6503	245654649	SO:0001819	synonymous_variant	114548	exon3			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1281G>A	1.37:g.247588026G>A			245654649	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	CCDS1632.1																																																																																				0.582	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
NLRP3	114548	broad.mit.edu	37	1	247588582	247588582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:247588582G>T	ENST00000336119.3	+	3	2583	c.1837G>T	c.(1837-1839)Gaa>Taa	p.E613*	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.E613*|NLRP3_ENST00000391827.2_Nonsense_Mutation_p.E613*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.E613*|NLRP3_ENST00000366497.2_Nonsense_Mutation_p.E613*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.E613*	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	613					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.E613*(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAATGGATTGAAGTGAAAGC	0.488																																					p.E613X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1837T	1						.						51.0	52.0	52.0					1																	247588582		2203	4300	6503	245655205	SO:0001587	stop_gained	114548	exon3			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1837G>T	1.37:g.247588582G>T	ENSP00000337383:p.Glu613*		245655205	NM_004895	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Nonsense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	40	8.301100	0.98750	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	.	.	.	3.96	2.02	0.26589	.	0.465039	0.19440	N	0.114217	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	5.3383	0.15969	0.112:0.2076:0.6804:0.0	.	.	.	.	X	613	.	ENSP00000337383:E613X	E	+	1	0	NLRP3	245655205	0.004000	0.15560	0.002000	0.10522	0.279000	0.26890	0.782000	0.26788	0.605000	0.29947	0.655000	0.94253	GAA		0.488	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895	
OR2B11	127623	broad.mit.edu	37	1	247614508	247614508	+	Silent	SNP	C	C	T	rs368167912		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:247614508C>T	ENST00000318749.6	-	1	800	c.777G>A	c.(775-777)gcG>gcA	p.A259A		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A259A(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACATGTAAATCGCAGGTAGGT	0.527																																					p.A259A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G777A	1						.	G		1,4405		0,1,2202	154.0	154.0	154.0		777	3.2	1.0	1		154	0,8600		0,0,4300	no	coding-synonymous	OR2B11	NM_001004492.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		259/318	247614508	1,13005	2203	4300	6503	245681131	SO:0001819	synonymous_variant	127623	exon1				CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.777G>A	1.37:g.247614508C>T			245681131	NM_001004492	B2RP03	Silent	SNP	ENST00000318749.6	37	CCDS31090.1																																																																																				0.527	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492	
OR2T8	343172	broad.mit.edu	37	1	248085079	248085079	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:248085079A>G	ENST00000319968.4	+	1	760	c.760A>G	c.(760-762)Att>Gtt	p.I254V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I254V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGAGCTGCCATTTTTACCTA	0.502																																					p.I254V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A760G	1						.						32.0	32.0	32.0					1																	248085079		2196	4287	6483	246151702	SO:0001583	missense	343172	exon1				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.760A>G	1.37:g.248085079A>G	ENSP00000326225:p.Ile254Val		246151702	NM_001005522		Missense_Mutation	SNP	ENST00000319968.4	37	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	A	4.371	0.068469	0.08436	.	.	ENSG00000177462	ENST00000319968	T	0.38887	1.11	3.56	-0.846	0.10734	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33496	U	0.004849	T	0.29223	0.0727	L	0.39085	1.19	0.09310	N	1	B	0.29627	0.252	B	0.37833	0.259	T	0.25502	-1.0130	10	0.18276	T	0.48	.	6.3304	0.21266	0.5424:0.3089:0.0:0.1487	.	254	A6NH00	OR2T8_HUMAN	V	254	ENSP00000326225:I254V	ENSP00000326225:I254V	I	+	1	0	OR2T8	246151702	0.000000	0.05858	0.033000	0.17914	0.578000	0.36192	-2.009000	0.01455	0.013000	0.14918	0.332000	0.21555	ATT		0.502	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522	
OR2L8	391190	broad.mit.edu	37	1	248113076	248113076	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:248113076G>T	ENST00000357191.3	+	1	917	c.917G>T	c.(916-918)aGa>aTa	p.R306I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R306I(2)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTGAGTCAGAGAATCTGCTCT	0.458																																					p.R306I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G917T	1						.						33.0	31.0	32.0					1																	248113076		2203	4297	6500	246179699	SO:0001583	missense	391190	exon1			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.917G>T	1.37:g.248113076G>T	ENSP00000349719:p.Arg306Ile		246179699	NM_001001963	Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	7.209	0.595063	0.13875	.	.	ENSG00000196936	ENST00000357191	T	0.39229	1.09	1.8	0.828	0.18841	.	.	.	.	.	T	0.43612	0.1255	M	0.74546	2.27	0.09310	N	1	P	0.34587	0.458	B	0.41619	0.361	T	0.46816	-0.9164	9	0.56958	D	0.05	.	3.2102	0.06680	0.4132:0.0:0.5868:0.0	.	306	Q8NGY9	OR2L8_HUMAN	I	306	ENSP00000349719:R306I	ENSP00000349719:R306I	R	+	2	0	OR2L8	246179699	0.391000	0.25221	0.835000	0.33067	0.598000	0.36846	1.018000	0.30002	1.010000	0.39314	0.485000	0.47835	AGA		0.458	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		
OR2AK2	391191	broad.mit.edu	37	1	248129403	248129403	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:248129403C>A	ENST00000366480.3	+	1	869	c.770C>A	c.(769-771)tCc>tAc	p.S257Y	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S257Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCCACTTGTTCCTCCCACCTG	0.507																																					p.S257Y	Melanoma(45;390 1181 23848 28461 41504)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C770A	1						.						177.0	140.0	153.0					1																	248129403		2203	4300	6503	246196026	SO:0001583	missense	391191	exon1			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.770C>A	1.37:g.248129403C>A	ENSP00000355436:p.Ser257Tyr		246196026	NM_001004491	B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	12.61	1.991058	0.35131	.	.	ENSG00000187080	ENST00000366480	T	0.38401	1.14	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.66665	0.2812	H	0.97240	3.965	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.56529	-0.7964	9	0.87932	D	0	.	3.0793	0.06256	0.0:0.4523:0.2261:0.3216	.	257	Q8NG84	O2AK2_HUMAN	Y	257	ENSP00000355436:S257Y	ENSP00000355436:S257Y	S	+	2	0	OR2AK2	246196026	0.000000	0.05858	0.006000	0.13384	0.161000	0.22273	-2.874000	0.00718	0.589000	0.29677	0.462000	0.41574	TCC		0.507	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491	
OR2L3	391192	broad.mit.edu	37	1	248224684	248224684	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:248224684A>C	ENST00000359959.3	+	1	701	c.701A>C	c.(700-702)aAg>aCg	p.K234T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K234T(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAAGGGAGGAAGAAAGCCTAC	0.478																																					p.K234T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A701C	1						.						180.0	161.0	168.0					1																	248224684		2203	4300	6503	246291307	SO:0001583	missense	391192	exon1			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.701A>C	1.37:g.248224684A>C	ENSP00000353044:p.Lys234Thr		246291307	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	A	0.293	-0.978836	0.02197	.	.	ENSG00000198128	ENST00000359959	T	0.00130	8.69	2.05	0.787	0.18596	GPCR, rhodopsin-like superfamily (1);	0.255386	0.20200	N	0.097110	T	0.00271	0.0008	L	0.46819	1.47	0.09310	N	1	D	0.59767	0.986	D	0.67548	0.952	T	0.50750	-0.8791	10	0.72032	D	0.01	.	7.5483	0.27781	0.7808:0.2192:0.0:0.0	.	234	Q8NG85	OR2L3_HUMAN	T	234	ENSP00000353044:K234T	ENSP00000353044:K234T	K	+	2	0	OR2L3	246291307	0.000000	0.05858	0.211000	0.23655	0.005000	0.04900	-2.878000	0.00716	0.041000	0.15688	-0.648000	0.03929	AAG		0.478	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
OR2L3	391192	broad.mit.edu	37	1	248224777	248224777	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:248224777G>A	ENST00000359959.3	+	1	794	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R265Q(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGATCCCTGCGATCTCCAACA	0.507																																					p.R265Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G794A	1						.						108.0	100.0	103.0					1																	248224777		2203	4298	6501	246291400	SO:0001583	missense	391192	exon1			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.794G>A	1.37:g.248224777G>A	ENSP00000353044:p.Arg265Gln		246291400	NM_001004687	B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	G	7.768	0.706794	0.15239	.	.	ENSG00000198128	ENST00000359959	T	0.00063	8.78	2.01	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27636	U	0.018492	T	0.00073	0.0002	N	0.25890	0.77	0.09310	N	1	B	0.25521	0.128	B	0.18871	0.023	T	0.34551	-0.9824	10	0.54805	T	0.06	.	3.0289	0.06099	0.3047:0.235:0.4604:0.0	.	265	Q8NG85	OR2L3_HUMAN	Q	265	ENSP00000353044:R265Q	ENSP00000353044:R265Q	R	+	2	0	OR2L3	246291400	0.000000	0.05858	0.242000	0.24170	0.633000	0.38033	-1.306000	0.02735	0.188000	0.20168	-0.380000	0.06706	CGA		0.507	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687	
OR2M2	391194	broad.mit.edu	37	1	248343371	248343371	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:248343371C>A	ENST00000359682.2	+	1	84	c.84C>A	c.(82-84)ttC>ttA	p.F28L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGTTCCTCTTCTTTCTGGTCC	0.493																																					p.F28L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C84A	1						.						261.0	253.0	256.0					1																	248343371		2203	4300	6503	246409994	SO:0001583	missense	391194	exon1			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.84C>A	1.37:g.248343371C>A	ENSP00000352710:p.Phe28Leu		246409994	NM_001004688	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	12.01	1.810386	0.32053	.	.	ENSG00000198601	ENST00000359682	T	0.17054	2.3	1.72	-0.473	0.12112	.	0.000000	0.31884	U	0.006912	T	0.22551	0.0544	M	0.87547	2.89	0.09310	N	1	B	0.27679	0.185	B	0.32342	0.144	T	0.21381	-1.0247	10	0.54805	T	0.06	.	6.3553	0.21398	0.0:0.5815:0.0:0.4185	.	28	Q96R28	OR2M2_HUMAN	L	28	ENSP00000352710:F28L	ENSP00000352710:F28L	F	+	3	2	OR2M2	246409994	0.062000	0.20869	0.029000	0.17559	0.211000	0.24417	0.099000	0.15210	0.059000	0.16252	0.298000	0.19748	TTC		0.493	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
OR2M2	391194	broad.mit.edu	37	1	248344185	248344185	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:248344185G>A	ENST00000359682.2	+	1	898	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A300T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGTGACTAGAGCATTCATGAA	0.438																																					p.A300T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G898A	1						.						212.0	204.0	206.0					1																	248344185		2203	4300	6503	246410808	SO:0001583	missense	391194	exon1			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.898G>A	1.37:g.248344185G>A	ENSP00000352710:p.Ala300Thr		246410808	NM_001004688	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	g	13.03	2.116608	0.37339	.	.	ENSG00000198601	ENST00000359682	T	0.42131	0.98	2.03	2.03	0.26663	.	.	.	.	.	T	0.55146	0.1902	L	0.60455	1.87	0.09310	N	1	D	0.62365	0.991	P	0.60949	0.881	T	0.45585	-0.9251	9	0.72032	D	0.01	.	11.9796	0.53113	0.0:0.0:1.0:0.0	.	300	Q96R28	OR2M2_HUMAN	T	300	ENSP00000352710:A300T	ENSP00000352710:A300T	A	+	1	0	OR2M2	246410808	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.652000	0.01988	1.152000	0.42452	0.454000	0.30748	GCA		0.438	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
OR2G6	391211	broad.mit.edu	37	1	248685833	248685833	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:248685833G>T	ENST00000343414.4	+	1	918	c.886G>T	c.(886-888)Gat>Tat	p.D296Y		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D296Y(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGAAACAAAGATGTGAAAGG	0.448																																					p.D296Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G886T	1						.						56.0	57.0	57.0					1																	248685833		2203	4300	6503	246752456	SO:0001583	missense	391211	exon1				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.886G>T	1.37:g.248685833G>T	ENSP00000341291:p.Asp296Tyr		246752456	NM_001013355	B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	16.16	3.043963	0.55110	.	.	ENSG00000188558	ENST00000343414	T	0.40476	1.03	3.83	3.83	0.44106	.	0.146158	0.30901	U	0.008651	T	0.65688	0.2715	M	0.85462	2.755	0.34465	D	0.702217	D	0.76494	0.999	D	0.65443	0.935	T	0.80422	-0.1389	10	0.87932	D	0	.	14.6536	0.68817	0.0:0.0:1.0:0.0	.	296	Q5TZ20	OR2G6_HUMAN	Y	296	ENSP00000341291:D296Y	ENSP00000341291:D296Y	D	+	1	0	OR2G6	246752456	1.000000	0.71417	0.973000	0.42090	0.814000	0.46013	4.618000	0.61211	1.964000	0.57103	0.400000	0.26472	GAT		0.448	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842	
DFFB	1677	broad.mit.edu	37	1	3800179	3800179	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:3800179G>T	ENST00000378209.3	+	7	1214	c.891G>T	c.(889-891)gaG>gaT	p.E297D	AL691523.1_ENST00000579705.1_RNA	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	297					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E297D(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTACCTCAGAGAACCTAAAAC	0.448																																					p.E297D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G891T	1						.						188.0	183.0	185.0					1																	3800179		2203	4300	6503	3790039	SO:0001583	missense	1677	exon7				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.891G>T	1.37:g.3800179G>T	ENSP00000367454:p.Glu297Asp		3790039	NM_004402	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000378209.3	37	CCDS52.1	.	.	.	.	.	.	.	.	.	.	G	4.573	0.106406	0.08780	.	.	ENSG00000169598	ENST00000378209;ENST00000339350;ENST00000378206	T	0.32988	1.43	5.3	0.742	0.18341	Apoptosis, DNA fragmentation factor 40kDa (1);	0.733936	0.13481	N	0.384706	T	0.19805	0.0476	L	0.45698	1.435	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.11329	0.006;0.004;0.004	T	0.11842	-1.0571	10	0.18276	T	0.48	-23.0136	1.8815	0.03229	0.2553:0.111:0.4588:0.1748	.	321;233;297	B4DZS0;Q5SR21;O76075	.;.;DFFB_HUMAN	D	297;233;233	ENSP00000367454:E297D	ENSP00000343218:E233D	E	+	3	2	DFFB	3790039	0.035000	0.19736	0.364000	0.25888	0.583000	0.36354	-0.606000	0.05654	0.230000	0.21059	0.655000	0.94253	GAG		0.448	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009821.2	NM_001282669	
C1orf174	339448	broad.mit.edu	37	1	3807148	3807148	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:3807148G>A	ENST00000361605.3	-	3	701	c.603C>T	c.(601-603)aaC>aaT	p.N201N	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	201						nucleus (GO:0005634)		p.N201N(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TGAGCTCAACGTTTCCAAAGA	0.552																																					p.N201N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	1						.						81.0	77.0	79.0					1																	3807148		2203	4300	6503	3797008	SO:0001819	synonymous_variant	339448	exon3			BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.603C>T	1.37:g.3807148G>A			3797008	NM_207356	A8K0C8|A8MUG9|Q5SR20|Q6NX36	Silent	SNP	ENST00000361605.3	37	CCDS53.1																																																																																				0.552	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356	
TAS1R1	80835	broad.mit.edu	37	1	6638810	6638810	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:6638810G>A	ENST00000333172.6	+	6	1885	c.1692G>A	c.(1690-1692)gaG>gaA	p.E564E	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Silent_p.E310E|TAS1R1_ENST00000328191.4_Missense_Mutation_p.S453N	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	564					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.E564E(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTTTGCGTGAGCACACCTCTT	0.597																																					p.E310E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G930A	1						.						60.0	56.0	58.0					1																	6638810		2203	4300	6503	6561397	SO:0001819	synonymous_variant	80835	exon5				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1692G>A	1.37:g.6638810G>A			6561397	NM_177540	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.963|9.963	1.223284|1.223284	0.22457|0.22457	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000411823|ENST00000328191	.|D	.|0.91686	.|-2.89	5.04|5.04	-2.96|-2.96	0.05547|0.05547	.|.	.|.	.|.	.|.	.|.	D|D	0.82522|0.82522	0.5055|0.5055	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.14438	.|0.01	.|B	.|0.11329	.|0.006	T|T	0.67845|0.67845	-0.5565|-0.5565	4|8	.|0.44086	.|T	.|0.13	.|.	1.7155|1.7155	0.02901|0.02901	0.2923:0.0864:0.3684:0.2529|0.2923:0.0864:0.3684:0.2529	.|.	.|453	.|Q7RTX1-3	.|.	T|N	379|453	.|ENSP00000327705:S453N	.|ENSP00000327705:S453N	A|S	+|+	1|2	0|0	TAS1R1|TAS1R1	6561397|6561397	0.004000|0.004000	0.15560|0.15560	0.003000|0.003000	0.11579|0.11579	0.018000|0.018000	0.09664|0.09664	-0.601000|-0.601000	0.05687|0.05687	-0.370000|-0.370000	0.08016|0.08016	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.597	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1		
CAMTA1	23261	broad.mit.edu	37	1	7309599	7309599	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:7309599C>T	ENST00000303635.7	+	5	558	c.351C>T	c.(349-351)taC>taT	p.Y117Y	CAMTA1_ENST00000439411.2_Silent_p.Y117Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AAGTGAAATACAGGAAAGATG	0.413			T	WWTR1	epitheliod hemangioendothelioma																																p.Y117Y			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	.	0			c.C351T	1						.						127.0	121.0	123.0					1																	7309599		2203	4300	6503	7232186	SO:0001819	synonymous_variant	23261	exon5			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.351C>T	1.37:g.7309599C>T			7232186	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1																																																																																				0.413	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
CAMTA1	23261	broad.mit.edu	37	1	7700552	7700552	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:7700552C>T	ENST00000303635.7	+	7	810	c.603C>T	c.(601-603)acC>acT	p.T201T	CAMTA1_ENST00000439411.2_Silent_p.T201T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T201T(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCATCAACACCGACAAGAAGG	0.632			T	WWTR1	epitheliod hemangioendothelioma																																p.T201T			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	1						.						148.0	120.0	130.0					1																	7700552		2203	4300	6503	7623139	SO:0001819	synonymous_variant	23261	exon7			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.603C>T	1.37:g.7700552C>T			7623139	NM_015215	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	CCDS30576.1																																																																																				0.632	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
PER3	8863	broad.mit.edu	37	1	7848198	7848198	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:7848198C>A	ENST00000361923.2	+	4	659	c.484C>A	c.(484-486)Ctg>Atg	p.L162M	PER3_ENST00000377532.3_Missense_Mutation_p.L162M|PER3_ENST00000377541.1_Missense_Mutation_p.L162M	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	162	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.L162M(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGATGTCCTGGCGTCTTC	0.463																																					p.L162M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C484A	1						.						141.0	140.0	141.0					1																	7848198		2203	4300	6503	7770785	SO:0001583	missense	8863	exon4			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.484C>A	1.37:g.7848198C>A	ENSP00000355031:p.Leu162Met		7770785	NM_016831	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546953	0.27652	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.38077	1.16;2.54;2.51	4.43	-4.98	0.03019	PAS (1);	0.000000	0.64402	D	0.000011	T	0.55146	0.1902	M	0.81497	2.545	0.33760	D	0.621777	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;0.998	T	0.65500	-0.6153	10	0.66056	D	0.02	.	13.9727	0.64252	0.0:0.6005:0.0:0.3995	.	162;162;162;162	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	M	162	ENSP00000366764:L162M;ENSP00000366755:L162M;ENSP00000355031:L162M	ENSP00000355031:L162M	L	+	1	2	PER3	7770785	0.830000	0.29337	0.013000	0.15412	0.085000	0.17905	0.215000	0.17562	-0.833000	0.04245	-1.128000	0.01989	CTG		0.463	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
ERRFI1	54206	broad.mit.edu	37	1	8073398	8073398	+	Missense_Mutation	SNP	C	C	T	rs201286989		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:8073398C>T	ENST00000377482.5	-	4	1484	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	421					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)	p.A421T(2)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TGGATTTGGGCGCCTCCATTT	0.433																																					p.A421T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1261A	1						.	C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	140.0	132.0	135.0		1261	-6.7	0.0	1		135	0,8600		0,0,4300	yes	missense	ERRFI1	NM_018948.3	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	421/463	8073398	2,13004	2203	4300	6503	7995985	SO:0001583	missense	54206	exon4			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1261G>A	1.37:g.8073398C>T	ENSP00000366702:p.Ala421Thr		7995985	NM_018948	B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	CCDS94.1	.	.	.	.	.	.	.	.	.	.	C	3.759	-0.049939	0.07407	4.54E-4	0.0	ENSG00000116285	ENST00000377482	T	0.17213	2.29	5.79	-6.66	0.01789	.	0.813256	0.11098	N	0.600036	T	0.03220	0.0094	N	0.01109	-1.01	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.41822	-0.9487	10	0.02654	T	1	-2.8828	8.1764	0.31285	0.0:0.4265:0.2935:0.28	.	421	Q9UJM3	ERRFI_HUMAN	T	421	ENSP00000366702:A421T	ENSP00000366702:A421T	A	-	1	0	ERRFI1	7995985	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.852000	0.01667	-0.791000	0.04486	-0.894000	0.02916	GCC		0.433	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948	
CLSTN1	22883	broad.mit.edu	37	1	9795218	9795218	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:9795218G>C	ENST00000377298.4	-	14	2690	c.1898C>G	c.(1897-1899)gCc>gGc	p.A633G	CLSTN1_ENST00000361311.4_Missense_Mutation_p.A623G|CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000377288.3_Missense_Mutation_p.A614G	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	633					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AATGCAGGTGGCCTCGTTAAA	0.577																																					p.A623G												.	.	0			c.C1868G	1						.						67.0	72.0	71.0					1																	9795218		2203	4300	6503	9717805	SO:0001583	missense	22883	exon13			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1898C>G	1.37:g.9795218G>C	ENSP00000366513:p.Ala633Gly		9717805	NM_014944	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191004	0.58017	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.91	4.93	0.64822	.	0.155477	0.56097	D	0.000024	T	0.25306	0.0615	L	0.36672	1.1	0.45822	D	0.99869	B;B;B	0.32188	0.245;0.359;0.245	B;B;B	0.33620	0.08;0.167;0.08	T	0.02983	-1.1086	10	0.39692	T	0.17	-48.978	11.6402	0.51228	0.0:0.0:0.6194:0.3806	.	614;623;633	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	G	633;623;434;614;614	ENSP00000366513:A633G;ENSP00000354997:A623G;ENSP00000401934:A434G;ENSP00000366502:A614G	ENSP00000354997:A623G	A	-	2	0	CLSTN1	9717805	1.000000	0.71417	0.954000	0.39281	0.980000	0.70556	6.862000	0.75484	2.793000	0.96121	0.655000	0.94253	GCC		0.577	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1		
NMNAT1	64802	broad.mit.edu	37	1	10035759	10035759	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:10035759G>T	ENST00000377205.1	+	3	369	c.225G>T	c.(223-225)aaG>aaT	p.K75N	NMNAT1_ENST00000403197.1_Missense_Mutation_p.K75N	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	75					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.K75N(1)		large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCTACCAAGAATTCTAAAT	0.438																																					p.K75N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G225T	1						.						139.0	127.0	131.0					1																	10035759		2203	4300	6503	9958346	SO:0001583	missense	64802	exon3			AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.225G>T	1.37:g.10035759G>T	ENSP00000366410:p.Lys75Asn		9958346	NM_022787	B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	CCDS108.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.436067	0.43224	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.98075	-4.7;-4.7	4.93	4.93	0.64822	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.253257	0.39020	N	0.001495	D	0.95436	0.8518	L	0.54965	1.715	0.44562	D	0.997522	B	0.11235	0.004	B	0.16722	0.016	D	0.92231	0.5792	10	0.33141	T	0.24	-3.7706	10.2612	0.43427	0.0762:0.1376:0.7862:0.0	.	75	Q9HAN9	NMNA1_HUMAN	N	75	ENSP00000385131:K75N;ENSP00000366410:K75N	ENSP00000366410:K75N	K	+	3	2	NMNAT1	9958346	1.000000	0.71417	0.925000	0.36789	0.611000	0.37282	2.529000	0.45632	2.439000	0.82584	0.643000	0.83706	AAG		0.438	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1		
CLIC4	25932	broad.mit.edu	37	1	25140618	25140618	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:25140618G>A	ENST00000374379.4	+	3	413	c.216G>A	c.(214-216)ggG>ggA	p.G72G	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	72	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.G72G(1)		large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TGGCTCCCGGGACCCACCCAC	0.383																																					p.G72G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G216A	1						.						77.0	82.0	80.0					1																	25140618		2203	4300	6503	25013205	SO:0001819	synonymous_variant	25932	exon3			AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.216G>A	1.37:g.25140618G>A			25013205	NM_013943	Q9UFW9|Q9UQJ6	Silent	SNP	ENST00000374379.4	37	CCDS256.1																																																																																				0.383	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943	
RHCE	6006	broad.mit.edu	37	1	25729214	25729215	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:25729214_25729215GC>AT	ENST00000294413.7	-	3	416_417	c.358_359GC>AT	c.(358-360)GCt>ATt	p.A120I	RHCE_ENST00000413854.1_Missense_Mutation_p.A120I|RHCE_ENST00000349438.4_Missense_Mutation_p.A120I|RHCE_ENST00000455194.1_Missense_Mutation_p.A120I|RHCE_ENST00000340849.4_Missense_Mutation_p.A120I|RHCE_ENST00000425135.1_Missense_Mutation_p.A120I|RHCE_ENST00000349320.3_Missense_Mutation_p.A104I|RHCE_ENST00000346452.4_Missense_Mutation_p.A120I|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000374352.2_Missense_Mutation_p.A104I|RHCE_ENST00000243186.6_Missense_Mutation_p.A120I	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	120						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.A120>?(1)		endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CACCGACATAGCACTCATGGTG	0.54																																					.												.	.	1	Complex(1)	large_intestine(1)	c.358_359AT	1	GRCh37	CD011874	RHCE	D		.																																			25601802	SO:0001583	missense	6006	exon3			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.358_359delinsAT	1.37:g.25729214_25729215delinsAT	ENSP00000294413:p.Ala120Ile		25601801	NM_138617	A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	DNP	ENST00000294413.7	37	CCDS30635.1																																																																																				0.540	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485	
RPS6KA1	6195	broad.mit.edu	37	1	26900594	26900594	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:26900594G>A	ENST00000374168.2	+	22	2264	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.A612T|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.A693T|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.A713T|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.A688T|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.A612T	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	704					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.A713T(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CACGTACTCCGCACTCAACAG	0.622																																					p.A713T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2137A	1						.						119.0	100.0	106.0					1																	26900594		2203	4300	6503	26773181	SO:0001583	missense	6195	exon21			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.2110G>A	1.37:g.26900594G>A	ENSP00000363283:p.Ala704Thr		26773181	NM_001006665	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280086	0.59758	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382;ENST00000438977	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.973	T	0.77480	-0.2572	10	0.87932	D	0	.	19.2501	0.93921	0.0:0.0:1.0:0.0	.	713;704	Q15418-2;Q15418	.;KS6A1_HUMAN	T	704;693;612;612;688;713;63	ENSP00000363283:A704T;ENSP00000363281:A693T;ENSP00000431651:A612T;ENSP00000363277:A612T;ENSP00000432281:A688T;ENSP00000435412:A713T;ENSP00000403548:A63T	ENSP00000363277:A612T	A	+	1	0	RPS6KA1	26773181	1.000000	0.71417	0.629000	0.29254	0.217000	0.24651	9.476000	0.97823	2.548000	0.85928	0.313000	0.20887	GCA		0.622	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953	
SLC9A1	6548	broad.mit.edu	37	1	27480569	27480569	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:27480569C>T	ENST00000263980.3	-	1	832	c.257G>A	c.(256-258)cGc>cAc	p.R86H	SLC9A1_ENST00000374086.3_Missense_Mutation_p.R86H|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	86					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.R86H(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AAAGGCCTTGCGCGGCTTCAT	0.587																																					p.R86H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G257A	1						.						109.0	110.0	109.0					1																	27480569		2203	4300	6503	27353156	SO:0001583	missense	6548	exon1			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.257G>A	1.37:g.27480569C>T	ENSP00000263980:p.Arg86His		27353156	NM_003047	B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	CCDS295.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424703	0.62733	.	.	ENSG00000090020	ENST00000263980;ENST00000374086;ENST00000374084	T;T	0.64803	0.88;-0.12	4.9	4.9	0.64082	.	0.183867	0.30840	N	0.008771	T	0.48040	0.1478	L	0.27053	0.805	0.80722	D	1	B;B	0.27316	0.175;0.006	B;B	0.17722	0.019;0.003	T	0.48681	-0.9014	10	0.49607	T	0.09	.	13.452	0.61176	0.0:1.0:0.0:0.0	.	86;86	P19634-2;P19634	.;SL9A1_HUMAN	H	86	ENSP00000263980:R86H;ENSP00000363199:R86H	ENSP00000263980:R86H	R	-	2	0	SLC9A1	27353156	0.962000	0.33011	0.953000	0.39169	0.906000	0.53458	3.014000	0.49590	2.564000	0.86499	0.655000	0.94253	CGC		0.587	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047	
AHDC1	27245	broad.mit.edu	37	1	27876725	27876725	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:27876725C>T	ENST00000247087.5	-	5	2498	c.1902G>A	c.(1900-1902)ccG>ccA	p.P634P	AHDC1_ENST00000374011.2_Silent_p.P634P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	634							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		AGCAGCGGGGCGGTGAGCACC	0.672																																					p.P634P												.	.	0			c.G1902A	1						.						71.0	70.0	71.0					1																	27876725		2203	4300	6503	27749312	SO:0001819	synonymous_variant	27245	exon6			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1902G>A	1.37:g.27876725C>T			27749312	NM_001029882	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	CCDS30652.1																																																																																				0.672	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3		
STX12	23673	broad.mit.edu	37	1	28128225	28128225	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:28128225G>T	ENST00000373943.4	+	4	450	c.325G>T	c.(325-327)Gac>Tac	p.D109Y	STX12_ENST00000468761.1_3'UTR	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	109					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.D109Y(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCATGAATGACTTCTCTGC	0.428																																					p.D109Y	Ovarian(5;5 342 2097 9488 34083)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G325T	1						.						61.0	60.0	60.0					1																	28128225		2203	4300	6503	28000812	SO:0001583	missense	23673	exon4			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.325G>T	1.37:g.28128225G>T	ENSP00000363054:p.Asp109Tyr		28000812	NM_177424	B1AJQ7|O95564	Missense_Mutation	SNP	ENST00000373943.4	37	CCDS310.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722829	0.89298	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	T	0.38401	1.14	5.4	5.4	0.78164	t-SNARE (1);Syntaxin, N-terminal (2);	0.040253	0.85682	D	0.000000	T	0.64983	0.2648	M	0.81497	2.545	0.48185	D	0.999606	D	0.89917	1.0	D	0.83275	0.996	T	0.69401	-0.5155	10	0.87932	D	0	-5.0431	19.1741	0.93597	0.0:0.0:1.0:0.0	.	109	Q86Y82	STX12_HUMAN	Y	109	ENSP00000363054:D109Y	ENSP00000363054:D109Y	D	+	1	0	STX12	28000812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.537000	0.85549	0.491000	0.48974	GAC		0.428	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424	
GMEB1	10691	broad.mit.edu	37	1	29037130	29037130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:29037130G>T	ENST00000294409.2	+	9	1087	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	GMEB1_ENST00000361872.4_Nonsense_Mutation_p.E323*|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000373816.1_Nonsense_Mutation_p.E323*	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	333					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.E323*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGGAGAAGAACAGTTTCT	0.398																																					p.E333X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G997T	1						.						183.0	162.0	169.0					1																	29037130		2203	4300	6503	28909717	SO:0001587	stop_gained	10691	exon9			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.997G>T	1.37:g.29037130G>T	ENSP00000294409:p.Glu333*		28909717	NM_006582	B1AT48|Q9NWH1|Q9UKD0	Nonsense_Mutation	SNP	ENST00000294409.2	37	CCDS327.1	.	.	.	.	.	.	.	.	.	.	G	37	6.176370	0.97348	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	.	.	.	5.52	5.52	0.82312	.	0.169738	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-37.0258	18.278	0.90089	0.0:0.0:1.0:0.0	.	.	.	.	X	323;299;323;333	.	ENSP00000294409:E333X	E	+	1	0	GMEB1	28909717	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.322000	0.90000	2.609000	0.88269	0.650000	0.86243	GAA		0.398	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582	
EPB41	2035	broad.mit.edu	37	1	29359622	29359622	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:29359622T>C	ENST00000343067.4	+	9	1357	c.1230T>C	c.(1228-1230)gaT>gaC	p.D410D	EPB41_ENST00000349460.4_Silent_p.D201D|EPB41_ENST00000373800.3_Silent_p.D201D|EPB41_ENST00000398863.2_Silent_p.D410D|EPB41_ENST00000373797.1_Silent_p.D410D|EPB41_ENST00000356093.2_Silent_p.D410D|EPB41_ENST00000347529.3_Silent_p.D375D|EPB41_ENST00000373798.1_Silent_p.D410D	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	410	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D201D(1)|p.D410D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGGAGTAGATATCATCCTAG	0.383																																					p.D201D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T603C	1						.						107.0	105.0	106.0					1																	29359622		2203	4300	6503	29232209	SO:0001819	synonymous_variant	2035	exon10			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1230T>C	1.37:g.29359622T>C			29232209	NM_203342	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	CCDS53288.1																																																																																				0.383	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342	
EPB41	2035	broad.mit.edu	37	1	29379626	29379626	+	Silent	SNP	C	C	T	rs145888614	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:29379626C>T	ENST00000343067.4	+	12	1774	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V	EPB41_ENST00000349460.4_Silent_p.V340V|EPB41_ENST00000373800.3_Silent_p.V340V|EPB41_ENST00000398863.2_Silent_p.V549V|EPB41_ENST00000373797.1_Silent_p.V549V|EPB41_ENST00000356093.2_Silent_p.V549V|EPB41_ENST00000347529.3_Silent_p.V514V|EPB41_ENST00000373798.1_Silent_p.V549V	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	549	Hydrophilic.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V340V(1)|p.V549V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGCAGCTGTCGATTCGGCAG	0.483																																					p.V340V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1020T	1						.	C	,,,,,	0,4406		0,0,2203	40.0	43.0	42.0		1647,1647,1020,1020,1020,1542	-11.8	0.0	1	dbSNP_134	42	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EPB41	NM_001166005.1,NM_001166006.1,NM_001166007.1,NM_004437.3,NM_203342.2,NM_203343.2	,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,	549/865,549/721,340/602,340/589,340/642,514/776	29379626	2,13004	2203	4300	6503	29252213	SO:0001819	synonymous_variant	2035	exon13			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1647C>T	1.37:g.29379626C>T			29252213	NM_203342	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Silent	SNP	ENST00000343067.4	37	CCDS53288.1																																																																																				0.483	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342	
PTPRU	10076	broad.mit.edu	37	1	29585062	29585062	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:29585062G>A	ENST00000345512.3	+	3	380	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	PTPRU_ENST00000323874.8_Missense_Mutation_p.R84Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R84Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R84Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R84Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R84Q	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	84	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCAGGCCAGCGAGCCCATGTC	0.602																																					p.R84Q												.	.	0			c.G251A	1						.						185.0	203.0	197.0					1																	29585062		2203	4300	6503	29457649	SO:0001583	missense	10076	exon3			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.251G>A	1.37:g.29585062G>A	ENSP00000334941:p.Arg84Gln		29457649	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090451	0.94149	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42;4.42	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.000000	0.64402	D	0.000001	T	0.08358	0.0208	M	0.73598	2.24	0.50171	D	0.999855	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	P;P;P;P;P	0.54026	0.623;0.623;0.623;0.74;0.74	T	0.01834	-1.1264	9	.	.	.	.	14.0961	0.65023	0.074:0.0:0.926:0.0	.	84;84;84;84;84	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Q	84	ENSP00000334941:R84Q;ENSP00000362884:R84Q;ENSP00000349333:R84Q;ENSP00000314987:R84Q;ENSP00000392332:R84Q;ENSP00000432906:R84Q	.	R	+	2	0	PTPRU	29457649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.719000	0.61937	2.699000	0.92147	0.591000	0.81541	CGA		0.602	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
PTPRU	10076	broad.mit.edu	37	1	29652132	29652132	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:29652132G>A	ENST00000345512.3	+	31	4429	c.4300G>A	c.(4300-4302)Gat>Aat	p.D1434N	PTPRU_ENST00000323874.8_Missense_Mutation_p.D1430N|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1421N|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1424N|PTPRU_ENST00000356870.3_Missense_Mutation_p.D1430N|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1428N	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1434	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D1430N(2)|p.D1434N(2)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTTTTGCTACGATGTGGCCCT	0.612																																					p.D1434N												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G4300A	1						.						170.0	147.0	155.0					1																	29652132		2203	4300	6503	29524719	SO:0001583	missense	10076	exon31			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.4300G>A	1.37:g.29652132G>A	ENSP00000334941:p.Asp1434Asn		29524719	NM_005704	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739262	0.89573	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.05	4.05	0.47172	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.148484	0.43416	U	0.000575	D	0.88775	0.6528	M	0.73319	2.225	0.52099	D	0.999947	D;D;D;D;D	0.67145	0.989;0.989;0.989;0.991;0.996	P;P;P;P;P	0.62184	0.784;0.784;0.784;0.863;0.899	D	0.89234	0.3579	9	.	.	.	.	15.4071	0.74887	0.0:0.0:1.0:0.0	.	1421;1428;1424;1430;1434	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	N	1434;1424;1430;1430;1421;1428	ENSP00000334941:D1434N;ENSP00000362884:D1424N;ENSP00000349333:D1430N;ENSP00000314987:D1430N;ENSP00000392332:D1421N;ENSP00000432906:D1428N	.	D	+	1	0	PTPRU	29524719	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.367000	0.73099	2.087000	0.62958	0.561000	0.74099	GAT		0.612	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
KPNA6	23633	broad.mit.edu	37	1	32636370	32636370	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:32636370G>A	ENST00000373625.3	+	14	1579	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N	RP4-622L5.2_ENST00000515055.1_RNA|KPNA6_ENST00000537234.1_Missense_Mutation_p.D493N|KPNA6_ENST00000545542.1_Missense_Mutation_p.D501N	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	496					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.D496N(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GAAGGCCTTCGACCTCATTGA	0.502																																					p.D496N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1486A	1						.						137.0	119.0	125.0					1																	32636370		2203	4300	6503	32408957	SO:0001583	missense	23633	exon14			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.1486G>A	1.37:g.32636370G>A	ENSP00000362728:p.Asp496Asn		32408957	NM_012316	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	CCDS352.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960424	0.34565	.	.	ENSG00000025800	ENST00000373625;ENST00000537234;ENST00000545542	T;T;T	0.29655	1.56;1.56;1.56	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.042203	0.85682	D	0.000000	T	0.27241	0.0668	L	0.41236	1.265	0.80722	D	1	B;B;B	0.18166	0.026;0.003;0.001	B;B;B	0.20767	0.031;0.008;0.001	T	0.11084	-1.0602	10	0.07482	T	0.82	-15.6283	19.9403	0.97159	0.0:0.0:1.0:0.0	.	501;501;496	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	N	496;493;501	ENSP00000362728:D496N;ENSP00000444930:D493N;ENSP00000440609:D501N	ENSP00000362728:D496N	D	+	1	0	KPNA6	32408957	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	9.420000	0.97426	2.885000	0.99019	0.650000	0.86243	GAC		0.502	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316	
SYNC	81493	broad.mit.edu	37	1	33160611	33160611	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:33160611C>A	ENST00000409190.3	-	2	1546	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I	SYNC_ENST00000373484.3_Missense_Mutation_p.R363I	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	363	Coil 2.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCTGGGTTCTCTGCAGAGC	0.587																																					p.R363I												.	.	0			c.G1088T	1						.						91.0	92.0	91.0					1																	33160611		2203	4300	6503	32933198	SO:0001583	missense	81493	exon2			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"""Intermediate filaments type III"""	28897	protein-coding gene	gene with protein product		611750	"""syncoilin, intermediate filament 1"""	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.1088G>T	1.37:g.33160611C>A	ENSP00000386439:p.Arg363Ile		32933198	NM_001161708	B4DNK8|B4DY58|C9IY41	Missense_Mutation	SNP	ENST00000409190.3	37	CCDS367.2	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709376	0.30322	.	.	ENSG00000162520	ENST00000373484;ENST00000409190	D;D	0.88896	-2.44;-2.44	4.19	1.84	0.25277	Filament (1);	0.404433	0.26895	N	0.021955	T	0.74869	0.3773	N	0.08118	0	0.34834	D	0.739982	B;B	0.13145	0.007;0.006	B;B	0.08055	0.003;0.002	T	0.71636	-0.4533	10	0.62326	D	0.03	-1.3179	7.7381	0.28825	0.0:0.1799:0.0:0.8201	.	363;363	Q9H7C4-2;Q9H7C4	.;SYNCI_HUMAN	I	363	ENSP00000362583:R363I;ENSP00000386439:R363I	ENSP00000362583:R363I	R	-	2	0	SYNC	32933198	0.995000	0.38212	0.996000	0.52242	0.729000	0.41735	1.185000	0.32065	0.586000	0.29626	-0.599000	0.04106	AGA		0.587	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022129.3	NM_030786	
CSMD2	114784	broad.mit.edu	37	1	34090742	34090742	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:34090742G>A	ENST00000373380.1	-	13	2248	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.S1803S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1763	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1763S(1)		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)				GGGCATAGCCGGAGTTGCATT	0.647																																					p.S1763S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5289T	1						.						79.0	72.0	74.0					1																	34090742		2203	4300	6503	33863329	SO:0001819	synonymous_variant	114784	exon34			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.2028C>T	1.37:g.34090742G>A			33863329	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37																																																																																					0.647	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
CSMD2	114784	broad.mit.edu	37	1	34128632	34128632	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:34128632C>T	ENST00000373380.1	-	5	952	c.732G>A	c.(730-732)ggG>ggA	p.G244G	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.G1371G			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1331	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1331G(1)		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)				TCTCCACAGGCCCATCCCAGA	0.607																																					p.G1331G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3993A	1						.						90.0	83.0	85.0					1																	34128632		2203	4300	6503	33901219	SO:0001819	synonymous_variant	114784	exon26			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.732G>A	1.37:g.34128632C>T			33901219	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37																																																																																					0.607	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
CSMD2	114784	broad.mit.edu	37	1	34254275	34254275	+	Missense_Mutation	SNP	G	G	A	rs375598825		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:34254275G>A	ENST00000338325.1	-	6	825	c.413C>T	c.(412-414)aCc>aTc	p.T138I	CSMD2_ENST00000373381.4_Missense_Mutation_p.T530I			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	490	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T490I(1)		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)				TTGATGATTGGTGCTGACAAT	0.498																																					p.T490I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1469T	1						.						127.0	110.0	116.0					1																	34254275		2203	4300	6503	34026862	SO:0001583	missense	114784	exon12			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	ENST00000338325.1:c.413C>T	1.37:g.34254275G>A	ENSP00000340311:p.Thr138Ile		34026862	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37		.	.	.	.	.	.	.	.	.	.	G	26.9	4.785574	0.90282	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.19669	2.13;2.13	5.57	5.57	0.84162	CUB (5);	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	M	0.68952	2.095	0.80722	D	1	P;P	0.46987	0.815;0.888	P;P	0.55508	0.542;0.777	T	0.09164	-1.0687	10	0.52906	T	0.07	.	17.0563	0.86534	0.0:0.0:1.0:0.0	.	490;530	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	530;138	ENSP00000362479:T530I;ENSP00000340311:T138I	ENSP00000241312:T490I	T	-	2	0	CSMD2	34026862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.462000	0.80851	2.620000	0.88729	0.563000	0.77884	ACC		0.498	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896	
CSMD2	114784	broad.mit.edu	37	1	34285335	34285335	+	Missense_Mutation	SNP	C	C	T	rs201126321		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:34285335C>T	ENST00000373381.4	-	9	1479	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	395	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D395N(1)		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)				GGCCTGTGGTCGCTCCAGGCC	0.627																																					p.D395N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1183A	1						.	C	ASN/ASP	0,4406		0,0,2203	62.0	54.0	57.0		1183	6.0	1.0	1		57	3,8597	3.0+/-9.4	0,3,4297	no	missense	CSMD2	NM_052896.3	23	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	395/3488	34285335	3,13003	2203	4300	6503	34057922	SO:0001583	missense	114784	exon9			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1303G>A	1.37:g.34285335C>T	ENSP00000362479:p.Asp435Asn		34057922	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37		.	.	.	.	.	.	.	.	.	.	C	29.4	4.999905	0.93227	0.0	3.49E-4	ENSG00000121904	ENST00000373381	T	0.23754	1.89	5.96	5.96	0.96718	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	L	0.41124	1.26	0.80722	D	1	D;D	0.65815	0.99;0.995	P;P	0.60949	0.881;0.844	T	0.02064	-1.1220	10	0.40728	T	0.16	.	19.4005	0.94627	0.0:1.0:0.0:0.0	.	395;435	Q7Z408;E7EUA6	CSMD2_HUMAN;.	N	435	ENSP00000362479:D435N	ENSP00000241312:D395N	D	-	1	0	CSMD2	34057922	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.793000	0.85851	2.824000	0.97209	0.655000	0.94253	GAC		0.627	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
ZMYM6	9204	broad.mit.edu	37	1	35453244	35453244	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:35453244A>C	ENST00000357182.4	-	16	3666	c.3439T>G	c.(3439-3441)Ttt>Gtt	p.F1147V	ZMYM6NB_ENST00000373337.3_5'Flank|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|RP11-244H3.1_ENST00000417456.1_RNA	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1147					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.F1147V(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				tttctcttaaatacatcaatt	0.289																																					p.F1147V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3439G	1						.						23.0	22.0	22.0					1																	35453244		1811	4060	5871	35225831	SO:0001583	missense	9204	exon16			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3439T>G	1.37:g.35453244A>C	ENSP00000349708:p.Phe1147Val		35225831	NM_007167	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	A	11.03	1.518530	0.27211	.	.	ENSG00000163867	ENST00000357182	T	0.18016	2.24	4.88	1.25	0.21368	Ribonuclease H-like (1);	0.547984	0.20583	N	0.089497	T	0.18215	0.0437	M	0.75615	2.305	0.50632	D	0.999889	B	0.27823	0.19	B	0.24155	0.051	T	0.03597	-1.1021	10	0.87932	D	0	-7.8949	6.8126	0.23812	0.7572:0.0:0.2428:0.0	.	1147	O95789	ZMYM6_HUMAN	V	1147	ENSP00000349708:F1147V	ENSP00000349708:F1147V	F	-	1	0	ZMYM6	35225831	0.740000	0.28207	0.209000	0.23619	0.974000	0.67602	1.230000	0.32612	0.110000	0.17919	0.528000	0.53228	TTT		0.289	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167	
SFPQ	6421	broad.mit.edu	37	1	35652836	35652836	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:35652836C>T	ENST00000357214.5	-	8	1930	c.1832G>A	c.(1831-1833)cGa>cAa	p.R611Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	611					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R611Q(2)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GCCACCCATTCGCATGTCTCT	0.383			T	TFE3	papillary renal cell																																p.R611Q			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1832A	1						.						128.0	130.0	129.0					1																	35652836		2203	4300	6503	35425423	SO:0001583	missense	6421	exon8			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1832G>A	1.37:g.35652836C>T	ENSP00000349748:p.Arg611Gln		35425423	NM_005066	P30808|Q5SZ71	Missense_Mutation	SNP	ENST00000357214.5	37	CCDS388.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.950150	0.92660	.	.	ENSG00000116560	ENST00000357214	T	0.28454	1.61	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.57286	0.2043	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.54180	-0.8332	10	0.62326	D	0.03	-17.5112	20.5662	0.99343	0.0:1.0:0.0:0.0	.	611	P23246	SFPQ_HUMAN	Q	611	ENSP00000349748:R611Q	ENSP00000349748:R611Q	R	-	2	0	SFPQ	35425423	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.874000	0.63064	2.868000	0.98415	0.603000	0.83216	CGA		0.383	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011984.4	NM_005066	
ZMYM4	9202	broad.mit.edu	37	1	35847150	35847150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:35847150C>T	ENST00000314607.6	+	9	1440	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.R454*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	454					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R454*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTCTAGATTCGACATGAAGT	0.393																																					p.R454X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1360T	1						.						126.0	119.0	121.0					1																	35847150		2203	4300	6503	35619737	SO:0001587	stop_gained	9202	exon9			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1360C>T	1.37:g.35847150C>T	ENSP00000322915:p.Arg454*		35619737	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.647577|4.647577	0.87958|0.87958	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	.|.	.|.	.|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.148421|.	0.43110|.	D|.	0.000615|.	.|T	.|0.65417	.|0.2689	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70364	.|-0.4892	.|3	0.05525|.	T|.	0.97|.	-0.4783|-0.4783	14.5081|14.5081	0.67767|0.67767	0.156:0.844:0.0:0.0|0.156:0.844:0.0:0.0	.|.	.|.	.|.	.|.	X|L	454|202	.|.	ENSP00000322915:R454X|.	R|S	+|+	1|2	2|0	ZMYM4|ZMYM4	35619737|35619737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.173000|3.173000	0.50839|0.50839	2.487000|2.487000	0.83934|0.83934	0.591000|0.591000	0.81541|0.81541	CGA|TCG		0.393	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
ZMYM4	9202	broad.mit.edu	37	1	35854672	35854672	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:35854672T>G	ENST00000314607.6	+	14	2505	c.2425T>G	c.(2425-2427)Ttg>Gtg	p.L809V	ZMYM4_ENST00000373297.2_Missense_Mutation_p.L720V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	809					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L809V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATATACAGTTTTGTTCTATCA	0.323																																					p.L809V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2425G	1						.						115.0	116.0	115.0					1																	35854672		2203	4300	6503	35627259	SO:0001583	missense	9202	exon14			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2425T>G	1.37:g.35854672T>G	ENSP00000322915:p.Leu809Val		35627259	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.07|16.07	3.017279|3.017279	0.54576|0.54576	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|T;T	.|0.32753	.|1.44;1.73	4.87|4.87	-0.384|-0.384	0.12474|0.12474	.|TRASH (1);	.|0.084250	.|0.48767	.|N	.|0.000167	T|T	0.45196|0.45196	0.1330|0.1330	M|M	0.68593|0.68593	2.085|2.085	0.39409|0.39409	D|D	0.966721|0.966721	.|D	.|0.71674	.|0.998	.|D	.|0.69654	.|0.965	T|T	0.27331|0.27331	-1.0077|-1.0077	5|10	.|0.39692	.|T	.|0.17	-4.976|-4.976	9.2269|9.2269	0.37412|0.37412	0.0:0.2674:0.0:0.7326|0.0:0.2674:0.0:0.7326	.|.	.|809	.|Q5VZL5	.|ZMYM4_HUMAN	C|V	468|809;720	.|ENSP00000322915:L809V;ENSP00000362394:L720V	.|ENSP00000322915:L809V	F|L	+|+	2|1	0|2	ZMYM4|ZMYM4	35627259|35627259	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.866000|0.866000	0.49608|0.49608	1.140000|1.140000	0.31516|0.31516	-0.377000|-0.377000	0.07930|0.07930	0.477000|0.477000	0.44152|0.44152	TTT|TTG		0.323	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
MAP7D1	55700	broad.mit.edu	37	1	36640564	36640564	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:36640564C>T	ENST00000373151.2	+	6	1021	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000316156.4_Intron|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R269W	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	269					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.R269W(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AATCAACAAGCGGCTCTCAAA	0.597																																					p.R269W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C805T	1						.						71.0	71.0	71.0					1																	36640564		2203	4300	6503	36413151	SO:0001583	missense	55700	exon6			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.805C>T	1.37:g.36640564C>T	ENSP00000362244:p.Arg269Trp		36413151	NM_018067	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	CCDS30673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.71|19.71	3.878069|3.878069	0.72294|0.72294	.|.	.|.	ENSG00000116871|ENSG00000116871	ENST00000373153|ENST00000429533;ENST00000373150;ENST00000373151	.|T;T;T	.|0.07567	.|3.18;3.18;3.18	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.37809	.|N	.|0.001924	.|T	.|0.32436	.|0.0829	M|M	0.78344|0.78344	2.41|2.41	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	.|T	.|0.02121	.|-1.1210	.|10	.|0.87932	.|D	.|0	.|-19.7601	18.162|18.162	0.89710|0.89710	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|269;269	.|Q3KQU3-4;Q3KQU3	.|.;MA7D1_HUMAN	.|W	-1|230;269;269	.|ENSP00000390091:R230W;ENSP00000362243:R269W;ENSP00000362244:R269W	.|ENSP00000362243:R269W	.|R	+|+	.|1	.|2	MAP7D1|MAP7D1	36413151|36413151	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.601000|1.601000	0.36773|0.36773	2.649000|2.649000	0.89929|0.89929	0.558000|0.558000	0.71614|0.71614	.|CGG		0.597	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067	
THRAP3	9967	broad.mit.edu	37	1	36752016	36752016	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:36752016G>A	ENST00000354618.5	+	4	409	c.185G>A	c.(184-186)aGa>aAa	p.R62K	THRAP3_ENST00000469141.2_Missense_Mutation_p.R62K	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	62	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R62K(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACAGAGAAAGAAACCACCCA	0.413			T	USP6	aneurysmal bone cysts																																p.R62K	Pancreas(129;785 1795 20938 23278 32581)		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G185A	1						.						90.0	93.0	92.0					1																	36752016		2203	4300	6503	36524603	SO:0001583	missense	9967	exon4			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.185G>A	1.37:g.36752016G>A	ENSP00000346634:p.Arg62Lys		36524603	NM_005119	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678139	0.47886	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.13538	2.58;2.58	5.61	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.17577	0.0422	M	0.66939	2.045	0.41700	D	0.989392	B	0.28178	0.202	B	0.22386	0.039	T	0.02238	-1.1190	10	0.54805	T	0.06	-15.6277	14.2185	0.65809	0.0718:0.0:0.9282:0.0	.	62	Q9Y2W1	TR150_HUMAN	K	62	ENSP00000346634:R62K;ENSP00000433825:R62K	ENSP00000346634:R62K	R	+	2	0	THRAP3	36524603	1.000000	0.71417	0.990000	0.47175	0.916000	0.54674	4.988000	0.63863	1.520000	0.48965	-0.126000	0.14955	AGA		0.413	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119	
CSF3R	1441	broad.mit.edu	37	1	36938156	36938156	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:36938156G>A	ENST00000373106.1	-	7	1352	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	CSF3R_ENST00000373103.1_Missense_Mutation_p.R269C|CSF3R_ENST00000361632.4_Missense_Mutation_p.R269C|CSF3R_ENST00000440588.2_Missense_Mutation_p.R269C|CSF3R_ENST00000418048.2_Missense_Mutation_p.R269C|CSF3R_ENST00000338937.5_Missense_Mutation_p.R269C|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000331941.5_Missense_Mutation_p.R269C|CSF3R_ENST00000373104.1_Missense_Mutation_p.R269C	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	269	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R269C(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGCTTGTGGCGCAGCTCACAC	0.672																																					p.R269C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C805T	1						.						35.0	36.0	35.0					1																	36938156		2195	4287	6482	36710743	SO:0001583	missense	1441	exon7			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.805C>T	1.37:g.36938156G>A	ENSP00000362198:p.Arg269Cys		36710743	NM_172313		Missense_Mutation	SNP	ENST00000373106.1	37	CCDS413.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047820	0.55110	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	4.88	4.88	0.63580	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.555420	0.19006	N	0.125202	T	0.74581	0.3735	M	0.81802	2.56	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.997;1.0	T	0.78132	-0.2323	10	0.87932	D	0	-26.8968	16.7622	0.85515	0.0:0.0:1.0:0.0	.	269;269;269;269	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	C	269	ENSP00000362198:R269C;ENSP00000362196:R269C;ENSP00000362195:R269C;ENSP00000355406:R269C;ENSP00000332180:R269C;ENSP00000401588:R269C;ENSP00000345013:R269C;ENSP00000397568:R269C	ENSP00000332180:R269C	R	-	1	0	CSF3R	36710743	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	5.876000	0.69667	2.531000	0.85337	0.655000	0.94253	CGC		0.672	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
GRIK3	2899	broad.mit.edu	37	1	37346268	37346268	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:37346268G>A	ENST00000373091.3	-	3	533	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	GRIK3_ENST00000373093.4_Missense_Mutation_p.R173W	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	173					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R173W(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTGGCTGACCGCCACTTGAGG	0.632																																					p.R173W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C517T	1						.						295.0	271.0	279.0					1																	37346268		2203	4300	6503	37118855	SO:0001583	missense	2899	exon3			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.517C>T	1.37:g.37346268G>A	ENSP00000362183:p.Arg173Trp		37118855	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580175	0.46006	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.84223	-1.82;-1.82	4.88	2.9	0.33743	Extracellular ligand-binding receptor (1);	0.066543	0.64402	D	0.000018	D	0.86822	0.6025	L	0.54323	1.7	0.46356	D	0.999	D;D	0.63880	0.993;0.993	P;P	0.54346	0.749;0.749	D	0.86801	0.1992	10	0.87932	D	0	.	12.969	0.58501	0.0:0.0:0.4148:0.5852	.	173;173	A9Z1Z8;Q13003	.;GRIK3_HUMAN	W	173	ENSP00000362183:R173W;ENSP00000362185:R173W	ENSP00000362183:R173W	R	-	1	2	GRIK3	37118855	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.476000	0.66793	0.518000	0.28383	0.561000	0.74099	CGG		0.632	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
CDCA8	55143	broad.mit.edu	37	1	38172657	38172657	+	Missense_Mutation	SNP	G	G	A	rs187658080		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:38172657G>A	ENST00000373055.1	+	9	992	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	CDCA8_ENST00000327331.2_Missense_Mutation_p.R240Q	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	240					chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R240Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGAGCCTGCGATTATTGGCC	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20705	0.0		0.0	False		,,,				2504	0.0				p.R240Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G719A	1						.						139.0	128.0	132.0					1																	38172657		2203	4300	6503	37945244	SO:0001583	missense	55143	exon10			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.719G>A	1.37:g.38172657G>A	ENSP00000362146:p.Arg240Gln		37945244	NM_018101	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Missense_Mutation	SNP	ENST00000373055.1	37	CCDS424.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	16.57	3.160502	0.57368	.	.	ENSG00000134690	ENST00000373055;ENST00000327331	T;T	0.42900	0.96;0.96	5.36	5.36	0.76844	.	0.060730	0.64402	D	0.000002	T	0.53367	0.1792	L	0.35487	1.065	0.50632	D	0.999886	D	0.89917	1.0	D	0.87578	0.998	T	0.42032	-0.9475	10	0.27785	T	0.31	-11.6435	16.9405	0.86216	0.0:0.0:1.0:0.0	.	240	Q53HL2	BOREA_HUMAN	Q	240	ENSP00000362146:R240Q;ENSP00000316121:R240Q	ENSP00000316121:R240Q	R	+	2	0	CDCA8	37945244	1.000000	0.71417	0.964000	0.40570	0.331000	0.28603	5.363000	0.66104	2.668000	0.90789	0.655000	0.94253	CGA		0.522	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101	
UTP11L	51118	broad.mit.edu	37	1	38489248	38489248	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:38489248A>C	ENST00000373014.4	+	8	771	c.710A>C	c.(709-711)gAa>gCa	p.E237A	UTP11L_ENST00000537711.1_3'UTR|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	237					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E237A(1)		NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTGAAGAAAGAAACGGTGAAC	0.343																																					p.E237A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A710C	1						.						79.0	80.0	80.0					1																	38489248		2203	4300	6503	38261835	SO:0001583	missense	51118	exon8			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.710A>C	1.37:g.38489248A>C	ENSP00000362105:p.Glu237Ala		38261835	NM_016037	A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	CCDS429.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926110	0.34002	.	.	ENSG00000183520	ENST00000373014	.	.	.	5.95	3.69	0.42338	.	0.167207	0.51477	N	0.000084	T	0.41236	0.1150	L	0.33093	0.98	0.80722	D	1	B	0.16166	0.016	B	0.16722	0.016	T	0.12344	-1.0551	9	0.13853	T	0.58	-27.4354	8.6188	0.33849	0.787:0.1447:0.0683:0.0	.	237	Q9Y3A2	UTP11_HUMAN	A	237	.	ENSP00000362105:E237A	E	+	2	0	UTP11L	38261835	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.072000	0.64389	0.533000	0.28675	-0.250000	0.11733	GAA		0.343	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037	
MACF1	23499	broad.mit.edu	37	1	39798902	39798902	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:39798902G>A	ENST00000372915.3	+	36	6744	c.6657G>A	c.(6655-6657)aaG>aaA	p.K2219K	MACF1_ENST00000564288.1_Silent_p.K2214K|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.K2251K|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.K654K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2219					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.K654K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAGAACTAAAGTCTGAAACTG	0.343																																					p.K654K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1962A	1						.						46.0	50.0	49.0					1																	39798902		2203	4300	6503	39571489	SO:0001819	synonymous_variant	23499	exon1			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6657G>A	1.37:g.39798902G>A			39571489	NM_033044	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37																																																																																					0.343	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
KIAA0754	643314	broad.mit.edu	37	1	39876853	39876853	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:39876853C>T	ENST00000530275.1	+	1	703	c.508C>T	c.(508-510)Ctc>Ttc	p.L170F	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	170										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTGCATGTTCTCATAACCCC	0.522											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L306F												.	.	0			c.C916T	1						.						53.0	51.0	52.0					1																	39876853		1947	4149	6096	39649440	SO:0001583	missense	643314	exon1					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.508C>T	1.37:g.39876853C>T	ENSP00000431179:p.Leu170Phe	889	39649440	NM_015038	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	C	15.22	2.767536	0.49574	.	.	ENSG00000255103	ENST00000530275	T	0.49432	0.78	4.93	3.99	0.46301	.	.	.	.	.	T	0.56529	0.1991	L	0.27053	0.805	0.18873	N	0.999985	D	0.89917	1.0	D	0.74674	0.984	T	0.54289	-0.8316	9	0.87932	D	0	.	15.0	0.71464	0.0:0.8567:0.1433:0.0	.	170	O94854	K0754_HUMAN	F	170	ENSP00000431179:L170F	ENSP00000431179:L170F	L	+	1	0	RP4-562N20.1	39649440	1.000000	0.71417	0.857000	0.33713	0.922000	0.55478	2.523000	0.45580	1.029000	0.39812	0.655000	0.94253	CTC		0.522	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038	
MACF1	23499	broad.mit.edu	37	1	39919469	39919469	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:39919469T>C	ENST00000372915.3	+	87	20617	c.20530T>C	c.(20530-20532)Tgc>Cgc	p.C6844R	MACF1_ENST00000564288.1_Missense_Mutation_p.C6945R|MACF1_ENST00000317713.7_Missense_Mutation_p.C4886R|MACF1_ENST00000539005.1_Missense_Mutation_p.C4756R|MACF1_ENST00000567887.1_Missense_Mutation_p.C6982R|MACF1_ENST00000545844.1_Missense_Mutation_p.C4886R|MACF1_ENST00000361689.2_Missense_Mutation_p.C4886R|MACF1_ENST00000289893.4_Missense_Mutation_p.C5388R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6844					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.C5388R(1)|p.C4886R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCACCCCGATTGCATCACAAC	0.498																																					p.C4886R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T14656C	1						.						252.0	237.0	242.0					1																	39919469		2203	4300	6503	39692056	SO:0001583	missense	23499	exon85			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20530T>C	1.37:g.39919469T>C	ENSP00000362006:p.Cys6844Arg		39692056	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.651482|4.651482	0.88056|0.88056	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8;0.8;0.8|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.59046|0.59046	0.2165|0.2165	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.99|.	D;D|.	0.71414|.	0.973;0.923|.	T|T	0.55444|0.55444	-0.8140|-0.8140	10|5	0.54805|.	T|.	0.06|.	.|.	15.9896|15.9896	0.80193|0.80193	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	6844;4886|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	R|S	4886;6844;4886;4886;4756;5388|3889	ENSP00000439537:C4886R;ENSP00000362006:C6844R;ENSP00000354573:C4886R;ENSP00000313438:C4886R;ENSP00000444364:C4756R;ENSP00000289893:C5388R|.	ENSP00000289893:C5388R|.	C|L	+|+	1|2	0|0	MACF1|MACF1	39692056|39692056	1.000000|1.000000	0.71417|0.71417	0.937000|0.937000	0.37676|0.37676	0.984000|0.984000	0.73092|0.73092	8.040000|8.040000	0.89188|0.89188	2.184000|2.184000	0.69523|0.69523	0.459000|0.459000	0.35465|0.35465	TGC|TTG		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
RLF	6018	broad.mit.edu	37	1	40688257	40688257	+	Silent	SNP	C	C	T	rs146717003	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:40688257C>T	ENST00000372771.4	+	6	849	c.822C>T	c.(820-822)gtC>gtT	p.V274V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	274					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V274V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTGCAAAGGTCGACTGCAAGG	0.378													C|||	4	0.000798722	0.003	0.0	5008	,	,		17832	0.0		0.0	False		,,,				2504	0.0				p.V274V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C822T	1						.						124.0	110.0	114.0					1																	40688257		2203	4300	6503	40460844	SO:0001819	synonymous_variant	6018	exon6				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.822C>T	1.37:g.40688257C>T			40460844	NM_012421	Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	CCDS448.1																																																																																				0.378	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
RLF	6018	broad.mit.edu	37	1	40702225	40702225	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:40702225G>T	ENST00000372771.4	+	8	1878	c.1851G>T	c.(1849-1851)aaG>aaT	p.K617N		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	617					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K617N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCTCTAAAAAGAAATTACTGT	0.393																																					p.K617N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1851T	1						.						49.0	52.0	51.0					1																	40702225		2203	4299	6502	40474812	SO:0001583	missense	6018	exon8				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.1851G>T	1.37:g.40702225G>T	ENSP00000361857:p.Lys617Asn		40474812	NM_012421	Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882009	0.51908	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.40225	1.04	6.17	5.26	0.73747	.	0.405610	0.31589	N	0.007389	T	0.36386	0.0965	L	0.29908	0.895	0.54753	D	0.999987	P;P	0.39601	0.68;0.664	B;B	0.40009	0.316;0.168	T	0.25572	-1.0128	10	0.72032	D	0.01	-9.294	15.8758	0.79159	0.0652:0.0:0.9348:0.0	.	310;617	F5H2M5;Q13129	.;RLF_HUMAN	N	617;310	ENSP00000361857:K617N	ENSP00000361857:K617N	K	+	3	2	RLF	40474812	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.979000	0.63806	2.941000	0.99782	0.655000	0.94253	AAG		0.393	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421	
TMCO2	127391	broad.mit.edu	37	1	40717052	40717052	+	Missense_Mutation	SNP	G	G	A	rs200048000		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:40717052G>A	ENST00000372766.3	+	2	428	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	112						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R112Q(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AGTGGTCTCCGAATTCAAGAC	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17495	0.0		0.0	False		,,,				2504	0.0				p.R112Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G335A	1						.						83.0	86.0	85.0					1																	40717052		2203	4300	6503	40489639	SO:0001583	missense	127391	exon2			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.335G>A	1.37:g.40717052G>A	ENSP00000361852:p.Arg112Gln		40489639	NM_001008740		Missense_Mutation	SNP	ENST00000372766.3	37	CCDS30684.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.983	-0.433700	0.04669	.	.	ENSG00000188800	ENST00000372766	.	.	.	4.81	0.0836	0.14434	.	1.131500	0.06539	N	0.742880	T	0.13500	0.0327	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28650	-1.0037	9	0.13108	T	0.6	-8.0E-4	6.1082	0.20086	0.5586:0.3058:0.1357:0.0	.	112	Q7Z6W1	TMCO2_HUMAN	Q	112	.	ENSP00000361852:R112Q	R	+	2	0	TMCO2	40489639	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	0.023000	0.13533	0.558000	0.29135	-0.451000	0.05528	CGA		0.368	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1	NM_001008740	
ZMPSTE24	10269	broad.mit.edu	37	1	40734136	40734136	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:40734136G>A	ENST00000372759.3	+	4	568	c.403G>A	c.(403-405)Gca>Aca	p.A135T		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	135					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.A135T(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ACTTTTCAGTGCATTGACTGG	0.338																																					p.A135T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G403A	1						.						138.0	135.0	136.0					1																	40734136		2203	4300	6503	40506723	SO:0001583	missense	10269	exon4			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.403G>A	1.37:g.40734136G>A	ENSP00000361845:p.Ala135Thr		40506723	NM_005857	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	CCDS449.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048129	0.36181	.	.	ENSG00000084073	ENST00000372759	T	0.01084	5.36	5.1	5.1	0.69264	.	0.096366	0.64402	D	0.000001	T	0.00637	0.0021	N	0.01284	-0.91	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.54180	-0.8332	10	0.02654	T	1	-18.5644	18.7017	0.91623	0.0:0.0:1.0:0.0	.	135	O75844	FACE1_HUMAN	T	135	ENSP00000361845:A135T	ENSP00000361845:A135T	A	+	1	0	ZMPSTE24	40506723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.049000	0.93837	2.644000	0.89710	0.549000	0.68633	GCA		0.338	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1		
ZFP69B	65243	broad.mit.edu	37	1	40928144	40928144	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:40928144C>T	ENST00000411995.2	+	6	863	c.488C>T	c.(487-489)tCg>tTg	p.S163L	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.S61L|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	163					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S61L(2)									AATGATATTTCGTGGGAAGAA	0.338																																					p.S163L												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C488T	1						.						119.0	131.0	127.0					1																	40928144		2203	4300	6503	40700731	SO:0001583	missense	65243	exon5			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.488C>T	1.37:g.40928144C>T	ENSP00000399664:p.Ser163Leu		40700731	NM_023070	Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	9.942	1.217703	0.22373	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.10005	3.38;2.92	3.39	2.48	0.30137	.	.	.	.	.	T	0.05640	0.0148	N	0.19112	0.55	0.19300	N	0.999979	B	0.15473	0.013	B	0.14578	0.011	T	0.44019	-0.9355	9	0.11794	T	0.64	.	4.3839	0.11307	0.2206:0.6613:0.0:0.1181	.	163	Q9UJL9	ZN643_HUMAN	L	94;163;61	ENSP00000399664:S163L;ENSP00000354547:S61L	ENSP00000354547:S61L	S	+	2	0	ZNF643	40700731	0.173000	0.23056	0.009000	0.14445	0.014000	0.08584	0.815000	0.27253	0.999000	0.39023	0.650000	0.86243	TCG		0.338	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070	
ZFP69B	65243	broad.mit.edu	37	1	40929140	40929140	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:40929140G>T	ENST00000411995.2	+	6	1859	c.1484G>T	c.(1483-1485)aGa>aTa	p.R495I	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.R393I|RP1-228H13.5_ENST00000565390.1_RNA	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	495					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R393I(1)									AAACATCAGAGAATTCATACT	0.373																																					p.R495I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1484T	1						.						67.0	66.0	66.0					1																	40929140		2203	4300	6503	40701727	SO:0001583	missense	65243	exon5			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.1484G>T	1.37:g.40929140G>T	ENSP00000399664:p.Arg495Ile		40701727	NM_023070	Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	16.72	3.200872	0.58234	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.24908	1.83;1.83	3.33	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50343	0.1610	M	0.84511	2.7	0.42039	D	0.991069	D	0.89917	1.0	D	0.91635	0.999	T	0.54437	-0.8294	9	0.87932	D	0	.	8.6835	0.34223	0.1176:0.0:0.8824:0.0	.	495	Q9UJL9	ZN643_HUMAN	I	426;495;393	ENSP00000399664:R495I;ENSP00000354547:R393I	ENSP00000354547:R393I	R	+	2	0	ZNF643	40701727	0.001000	0.12720	0.977000	0.42913	0.990000	0.78478	0.770000	0.26618	0.974000	0.38366	0.655000	0.94253	AGA		0.373	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070	
ZFP69	339559	broad.mit.edu	37	1	40961559	40961559	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:40961559A>G	ENST00000372706.1	+	6	2415	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.N470S			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N470S(1)									TATGAATGCAACCGCTGTGGA	0.398																																					p.N470S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1409G	1						.						78.0	75.0	76.0					1																	40961559		2203	4300	6503	40734146	SO:0001583	missense	339559	exon6			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1409A>G	1.37:g.40961559A>G	ENSP00000361791:p.Asn470Ser		40734146	NM_198494	Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	A	6.681	0.494237	0.12702	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.14640	2.49;2.49	4.51	3.39	0.38822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.479552	0.17685	N	0.165472	T	0.06917	0.0176	N	0.17838	0.53	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39210	-0.9625	10	0.13108	T	0.6	-3.5666	4.8259	0.13416	0.7144:0.1897:0.0959:0.0	.	470	Q49AA0	ZN642_HUMAN	S	470	ENSP00000361791:N470S;ENSP00000361790:N470S	ENSP00000361790:N470S	N	+	2	0	ZNF642	40734146	0.000000	0.05858	0.977000	0.42913	0.966000	0.64601	-1.091000	0.03369	1.059000	0.40554	0.459000	0.35465	AAC		0.398	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494	
CCDC30	728621	broad.mit.edu	37	1	43055039	43055039	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:43055039C>T	ENST00000340612.4	+	8	1268	c.1268C>T	c.(1267-1269)aCc>aTc	p.T423I	CCDC30_ENST00000428554.2_Missense_Mutation_p.T423I|CCDC30_ENST00000507855.1_Missense_Mutation_p.T212I|CCDC30_ENST00000390640.4_Missense_Mutation_p.T212I|CCDC30_ENST00000342022.4_Missense_Mutation_p.T423I			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	423						extracellular vesicular exosome (GO:0070062)		p.T423I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						CAAGTGAGAACCTTACAAGAT	0.358																																					p.T423I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1268T	1						.						98.0	98.0	98.0					1																	43055039		2203	4300	6503	42827626	SO:0001583	missense	728621	exon9			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1268C>T	1.37:g.43055039C>T	ENSP00000340378:p.Thr423Ile		42827626	NM_001080850	Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	5.831	0.337618	0.11013	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.08	1.5	0.22942	.	1.127090	0.06338	N	0.707437	T	0.16811	0.0404	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.17667	0.001;0.0;0.023	B;B;B	0.11329	0.002;0.001;0.006	T	0.25117	-1.0141	10	0.17369	T	0.5	.	2.5247	0.04689	0.2213:0.3555:0.0:0.4232	.	423;207;212	Q5VVM6;Q6N081;Q5VVM6-2	CCD30_HUMAN;.;.	I	423;212;423;423;212	ENSP00000397035:T423I;ENSP00000426711:T212I;ENSP00000340378:T423I;ENSP00000339280:T423I;ENSP00000375051:T212I	ENSP00000340378:T423I	T	+	2	0	CCDC30	42827626	0.017000	0.18338	0.022000	0.16811	0.844000	0.47949	0.137000	0.15995	0.469000	0.27268	0.491000	0.48974	ACC		0.358	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030	
PPIH	10465	broad.mit.edu	37	1	43131686	43131686	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:43131686C>A	ENST00000304979.3	+	7	394	c.372C>A	c.(370-372)ttC>ttA	p.F124L	PPIH_ENST00000455203.2_Missense_Mutation_p.F81L|PPIH_ENST00000372550.1_Missense_Mutation_p.F81L	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	124	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|ribonucleoprotein complex binding (GO:0043021)	p.F124L(1)		endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GCTGTCAGTTCTTTATCACCT	0.498																																					p.F124L	NSCLC(73;23 1942 10718 46854)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C372A	1						.						258.0	221.0	234.0					1																	43131686		2203	4300	6503	42904273	SO:0001583	missense	10465	exon7			AF016371	CCDS469.1	1p34.1	2012-06-07	2006-01-12		ENSG00000171960	ENSG00000171960			14651	protein-coding gene	gene with protein product	"""USA-CyP SnuCyp-20"", ""cyclophilin H"", ""U-snRNP-associated cyclophilin SunCyp-20"", ""small nuclear ribonucleoprotein particle-specific cyclophilin H"", ""rotamase H"", ""peptidyl-prolyl cis-trans isomerase H"", ""PPIase h"""	606095	"""peptidyl prolyl isomerase H (cyclophilin H)"""			9404889, 9570313	Standard	NM_006347		Approved	USA-CYP, CYP-20, SnuCyp-20, CYPH, MGC5016	uc001chq.3	O43447	OTTHUMG00000007520	ENST00000304979.3:c.372C>A	1.37:g.43131686C>A	ENSP00000306614:p.Phe124Leu		42904273	NM_006347	A6NNE7	Missense_Mutation	SNP	ENST00000304979.3	37	CCDS469.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570207	0.86542	.	.	ENSG00000171960	ENST00000304979;ENST00000372550;ENST00000440068;ENST00000455203	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.81	3.92	0.45320	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.087668	0.85682	D	0.000000	T	0.82061	0.4955	H	0.99042	4.41	0.80722	D	1	D;D	0.69078	0.997;0.987	D;P	0.64410	0.925;0.883	T	0.83041	-0.0157	10	0.87932	D	0	.	7.1531	0.25622	0.0:0.7204:0.0:0.2796	.	81;124	A6NNE7;O43447	.;PPIH_HUMAN	L	124;81;98;81	ENSP00000306614:F124L;ENSP00000361630:F81L;ENSP00000402836:F98L;ENSP00000416361:F81L	ENSP00000306614:F124L	F	+	3	2	PPIH	42904273	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.039000	0.30266	0.763000	0.33175	0.563000	0.77884	TTC		0.498	PPIH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019778.1	NM_006347	
YBX1	4904	broad.mit.edu	37	1	43166649	43166649	+	Missense_Mutation	SNP	C	C	T	rs141968223		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:43166649C>T	ENST00000321358.7	+	7	1077	c.938C>T	c.(937-939)tCg>tTg	p.S313L		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	313					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)	p.S313L(1)		large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTGAGAATTCGTCCGCTCCC	0.552																																					p.S313L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C938T	1						.	C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	53.0	54.0	54.0		938	4.5	1.0	1	dbSNP_134	54	0,8598		0,0,4299	no	missense	YBX1	NM_004559.3	145	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	313/325	43166649	1,13003	2203	4299	6502	42939236	SO:0001583	missense	4904	exon7			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.938C>T	1.37:g.43166649C>T	ENSP00000361626:p.Ser313Leu		42939236	NM_004559	P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	CCDS470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.14|18.14	3.556655|3.556655	0.65425|0.65425	2.27E-4|2.27E-4	0.0|0.0	ENSG00000065978|ENSG00000065978	ENST00000436427|ENST00000321358;ENST00000318612	.|T	.|0.32023	.|1.47	5.39|5.39	4.47|4.47	0.54385|0.54385	.|.	.|0.207364	.|0.49916	.|N	.|0.000130	T|T	0.29190|0.29190	0.0726|0.0726	L|L	0.55213|0.55213	1.73|1.73	0.45822|0.45822	D|D	0.998697|0.998697	.|B	.|0.22211	.|0.066	.|B	.|0.09377	.|0.004	T|T	0.11792|0.11792	-1.0573|-1.0573	5|10	.|0.62326	.|D	.|0.03	-0.9055|-0.9055	12.3783|12.3783	0.55293|0.55293	0.0:0.9152:0.0:0.0848|0.0:0.9152:0.0:0.0848	.|.	.|313	.|P67809	.|YBOX1_HUMAN	C|L	363|313;303	.|ENSP00000361626:S313L	.|ENSP00000361621:S303L	R|S	+|+	1|2	0|0	YBX1|YBX1	42939236|42939236	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.129000|7.129000	0.77225|0.77225	2.505000|2.505000	0.84491|0.84491	0.557000|0.557000	0.71058|0.71058	CGT|TCG		0.552	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559	
CCDC23	374969	broad.mit.edu	37	1	43282187	43282187	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:43282187G>T	ENST00000372521.4	-	2	127	c.29C>A	c.(28-30)aCc>aAc	p.T10N	CCDC23_ENST00000537227.1_Missense_Mutation_p.T10N|ERMAP_ENST00000372517.2_5'Flank|CCDC23_ENST00000497437.1_5'UTR|CCDC23_ENST00000372522.1_Missense_Mutation_p.T10N	NM_199342.3	NP_955374.1	Q8N300	CCD23_HUMAN	coiled-coil domain containing 23	10					negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein ubiquitination (GO:0031397)|protein secretion (GO:0009306)	apical part of cell (GO:0045177)		p.T10N(1)		large_intestine(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTAACTTTGGTTTTTTCTTT	0.458																																					p.T10N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C29A	1						.						214.0	199.0	204.0					1																	43282187		2203	4300	6503	43054774	SO:0001583	missense	374969	exon2			AL512353, CAH72714	CCDS474.1	1p34.2	2008-02-05			ENSG00000177868	ENSG00000177868			29204	protein-coding gene	gene with protein product							Standard	NM_199342		Approved	MGC45441	uc001cib.2	Q8N300	OTTHUMG00000007566	ENST00000372521.4:c.29C>A	1.37:g.43282187G>T	ENSP00000361599:p.Thr10Asn		43054774	NM_199342	A8K5P1|D3DPW7	Missense_Mutation	SNP	ENST00000372521.4	37	CCDS474.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880676	0.33255	.	.	ENSG00000177868	ENST00000372522;ENST00000372521;ENST00000537227	.	.	.	5.56	5.56	0.83823	.	1.086530	0.07108	N	0.841662	T	0.42988	0.1227	.	.	.	0.25714	N	0.98545	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	8	0.51188	T	0.08	.	15.031	0.71708	0.0:0.0:1.0:0.0	.	10	Q8N300	CCD23_HUMAN	N	10	.	ENSP00000361599:T10N	T	-	2	0	CCDC23	43054774	1.000000	0.71417	0.967000	0.41034	0.754000	0.42855	3.319000	0.51983	2.605000	0.88082	0.585000	0.79938	ACC		0.458	CCDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019997.1	NM_199342	
SZT2	23334	broad.mit.edu	37	1	43902867	43902867	+	Silent	SNP	G	G	A	rs141635115		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:43902867G>A	ENST00000562955.1	+	42	5889	c.5889G>A	c.(5887-5889)gcG>gcA	p.A1963A	SZT2_ENST00000372442.1_Silent_p.A1121A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2020					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.A1121A(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGAGCTGTGCGCCCCGTGGGT	0.562																																					p.A1121A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3363A	1						.	G		0,4406		0,0,2203	116.0	113.0	114.0		5889	-5.6	0.9	1	dbSNP_134	114	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	SZT2	NM_015284.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		1963/3376	43902867	2,13004	2203	4300	6503	43675454	SO:0001819	synonymous_variant	23334	exon28			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5889G>A	1.37:g.43902867G>A			43675454	NM_015284	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	CCDS30694.2																																																																																				0.562	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284	
RPS8	6202	broad.mit.edu	37	1	45241776	45241776	+	Silent	SNP	G	G	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:45241776G>C	ENST00000396651.3	+	2	235	c.75G>C	c.(73-75)cgG>cgC	p.R25R	RPS8_ENST00000485390.1_3'UTR|RP11-269F19.2_ENST00000428791.1_RNA|RPS8_ENST00000372209.3_Silent_p.R25R|SNORD55_ENST00000581525.1_RNA|SNORD38A_ENST00000365161.1_RNA|SNORD38B_ENST00000384690.1_RNA|SNORD46_ENST00000364043.1_RNA			P62241	RS8_HUMAN	ribosomal protein S8	25					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R25R(1)		central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					ACAAGAAGCGGAAGTATGAGT	0.642																																					p.R25R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G75C	1						.						27.0	26.0	26.0					1																	45241776		2203	4300	6503	45014363	SO:0001819	synonymous_variant	6202	exon2			BC070875	CCDS513.1	1p34.1-p32	2011-04-05			ENSG00000142937	ENSG00000142937		"""S ribosomal proteins"""	10441	protein-coding gene	gene with protein product		600357				8432552	Standard	NM_001012		Approved	S8	uc001cmi.3	P62241	OTTHUMG00000008494	ENST00000396651.3:c.75G>C	1.37:g.45241776G>C			45014363	NM_001012	P09058|Q6IRL7	Silent	SNP	ENST00000396651.3	37	CCDS513.1																																																																																				0.642	RPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023439.1	NM_001012	
MKNK1	8569	broad.mit.edu	37	1	47027228	47027228	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:47027228G>T	ENST00000371946.4	-	12	1213	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Silent_p.L214L|MKNK1_ENST00000428112.2_Silent_p.L309L|MKNK1_ENST00000371945.4_Silent_p.L309L|MKNK1_ENST00000341183.5_Silent_p.L309L	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L350L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GCTTGGAGATGAGGTCTTTGG	0.537																																					p.L309L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C927A	1						.						153.0	125.0	135.0					1																	47027228		2203	4300	6503	46799815	SO:0001819	synonymous_variant	8569	exon11			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1050C>A	1.37:g.47027228G>T			46799815	NM_198973	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Silent	SNP	ENST00000371946.4	37	CCDS538.1																																																																																				0.537	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021897.2	NM_003684	
EFCAB14	9813	broad.mit.edu	37	1	47183607	47183607	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:47183607G>A	ENST00000371933.3	-	1	1129	c.153C>T	c.(151-153)ttC>ttT	p.F51F	EFCAB14_ENST00000544071.1_Silent_p.F51F	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	51							calcium ion binding (GO:0005509)										CAACCACACCGAATTCCTCTT	0.547																																					p.F51F												.	.	0			c.C153T	1						.						73.0	67.0	69.0					1																	47183607		2203	4300	6503	46956194	SO:0001819	synonymous_variant	9813	exon1			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.153C>T	1.37:g.47183607G>A			46956194	NM_014774	D3DQ23|Q5SXB8	Silent	SNP	ENST00000371933.3	37	CCDS30706.1																																																																																				0.547	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774	
CYP4B1	1580	broad.mit.edu	37	1	47283819	47283819	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:47283819G>A	ENST00000271153.4	+	11	1322	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H	CYP4B1_ENST00000452782.2_Missense_Mutation_p.R267H|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R430H|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R415H			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	429					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.R429H(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GACTCTCTGCGCTTTTCCACT	0.572																																					p.R430H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1289A	1						.						150.0	138.0	142.0					1																	47283819		2203	4300	6503	47056406	SO:0001583	missense	1580	exon11			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1286G>A	1.37:g.47283819G>A	ENSP00000271153:p.Arg429His		47056406	NM_001099772	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201879	0.58234	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	D;D;D;D	0.94000	-3.33;-3.33;-2.64;-3.33	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	M	0.87328	2.875	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.994;0.997	D	0.97845	1.0271	10	0.87932	D	0	.	17.4466	0.87579	0.0:0.1243:0.8757:0.0	.	415;430;429	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	H	430;429;415;267	ENSP00000360991:R430H;ENSP00000271153:R429H;ENSP00000360987:R415H;ENSP00000400413:R267H	ENSP00000271153:R429H	R	+	2	0	CYP4B1	47056406	1.000000	0.71417	0.997000	0.53966	0.010000	0.07245	6.351000	0.73022	1.623000	0.50342	0.655000	0.94253	CGC		0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
STIL	6491	broad.mit.edu	37	1	47767909	47767909	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:47767909C>T	ENST00000360380.3	-	5	625	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	STIL_ENST00000396221.2_Missense_Mutation_p.E88K|STIL_ENST00000337817.5_Missense_Mutation_p.E88K|STIL_ENST00000371877.3_Missense_Mutation_p.E88K|STIL_ENST00000243182.6_Missense_Mutation_p.E88K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	88					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E88K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTATTACCTTCGTCTGCTGTC	0.448																																					p.E88K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G262A	1						.						88.0	93.0	91.0					1																	47767909		2203	4300	6503	47540496	SO:0001583	missense	6491	exon4			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.262G>A	1.37:g.47767909C>T	ENSP00000353544:p.Glu88Lys		47540496	NM_001048166	Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676532	0.67928	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475;ENST00000413565	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.42	4.49	0.54785	.	0.322809	0.34268	N	0.004108	T	0.56455	0.1986	L	0.57536	1.79	0.38203	D	0.940231	D;D;D;D;D	0.71674	0.996;0.991;0.996;0.998;0.998	P;P;P;P;P	0.53102	0.643;0.549;0.643;0.718;0.718	T	0.65340	-0.6192	10	0.72032	D	0.01	.	14.2991	0.66334	0.0:0.8514:0.1486:0.0	.	88;88;88;88;88	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	K	88;88;88;88;88;88;92	ENSP00000353544:E88K;ENSP00000337367:E88K;ENSP00000360944:E88K;ENSP00000379523:E88K;ENSP00000243182:E88K;ENSP00000411664:E88K;ENSP00000412019:E92K	ENSP00000243182:E88K	E	-	1	0	STIL	47540496	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.757000	0.68766	1.240000	0.43803	0.455000	0.32223	GAA		0.448	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035	
CMPK1	51727	broad.mit.edu	37	1	47840643	47840643	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:47840643G>A	ENST00000371873.5	+	4	683	c.534G>A	c.(532-534)gaG>gaA	p.E178E	CMPK1_ENST00000450808.2_Silent_p.E129E	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1			cytidine monophosphate (UMP-CMP) kinase 1, cytosolic									p.E178E(1)		endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8						ACAACAGAGAGAGCTTGGAAA	0.358																																					p.E129E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G387A	1						.						88.0	87.0	87.0					1																	47840643		2203	4300	6503	47613230	SO:0001819	synonymous_variant	51727	exon3			AF070416	CCDS549.1, CCDS44135.1	1p34.1-p33	2008-02-05	2008-01-25	2008-01-25	ENSG00000162368	ENSG00000162368	2.7.4.14		18170	protein-coding gene	gene with protein product	"""UMP-CMP kinase"", ""Cytidine monophosphate kinase"""	191710	"""cytidylate kinase"""	CMPK		10462544	Standard	NM_016308		Approved	UMP-CMPK	uc001cri.3	P30085	OTTHUMG00000007849	ENST00000371873.5:c.534G>A	1.37:g.47840643G>A			47613230	NM_001136140		Silent	SNP	ENST00000371873.5	37	CCDS549.1																																																																																				0.358	CMPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021646.2	NM_016308	
SPATA6	54558	broad.mit.edu	37	1	48825413	48825413	+	Silent	SNP	G	G	A	rs138421307		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:48825413G>A	ENST00000371847.3	-	10	1103	c.939C>T	c.(937-939)ttC>ttT	p.F313F	SPATA6_ENST00000371843.3_Silent_p.F313F|SPATA6_ENST00000396199.3_Silent_p.F241F	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	313					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.F313F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AAGAGTCATCGAAGTCTCTCC	0.373																																					p.F313F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C939T	1						.	G		1,4405	2.1+/-5.4	0,1,2202	51.0	49.0	50.0		939	-10.7	0.2	1	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous	SPATA6	NM_019073.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		313/489	48825413	1,13005	2203	4300	6503	48598000	SO:0001819	synonymous_variant	54558	exon10			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.939C>T	1.37:g.48825413G>A			48598000	NM_019073	Q5T3N7|Q8WUE6	Silent	SNP	ENST00000371847.3	37	CCDS551.1																																																																																				0.373	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073	
SPATA6	54558	broad.mit.edu	37	1	48918741	48918741	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:48918741A>G	ENST00000371847.3	-	2	278	c.114T>C	c.(112-114)ttT>ttC	p.F38F	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_5'UTR|SPATA6_ENST00000371843.3_Silent_p.F38F	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	38					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.F38F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGTATTGGCCAAACACACAGA	0.393																																					p.F38F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T114C	1						.						147.0	138.0	141.0					1																	48918741		2203	4300	6503	48691328	SO:0001819	synonymous_variant	54558	exon2			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.114T>C	1.37:g.48918741A>G			48691328	NM_019073	Q5T3N7|Q8WUE6	Silent	SNP	ENST00000371847.3	37	CCDS551.1																																																																																				0.393	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073	
AGBL4	84871	broad.mit.edu	37	1	49056587	49056587	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:49056587T>C	ENST00000371839.1	-	10	1138	c.1022A>G	c.(1021-1023)aAc>aGc	p.N341S	AGBL4_ENST00000334103.7_Missense_Mutation_p.N74S	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	341					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.N341S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CTCAAAGATGTTGCCATACAT	0.458																																					p.N341S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1022G	1						.						66.0	66.0	66.0					1																	49056587		1948	4136	6084	48829174	SO:0001583	missense	84871	exon10			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.1022A>G	1.37:g.49056587T>C	ENSP00000360905:p.Asn341Ser		48829174	NM_032785	B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	CCDS44137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.364359|4.364359	0.82463|0.82463	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103|ENST00000416121	T;T|.	0.09723|.	2.95;2.95|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Peptidase M14, carboxypeptidase A (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73776|0.73776	0.3630|0.3630	M|M	0.71871|0.71871	2.18|2.18	0.58432|0.58432	D|D	0.99999|0.99999	D;D;D;D;D|.	0.89917|.	1.0;0.998;1.0;0.995;0.995|.	D;D;D;D;D|.	0.97110|.	0.998;0.994;1.0;0.936;0.936|.	T|T	0.73760|0.73760	-0.3881|-0.3881	9|5	.|.	.|.	.|.	-41.8049|-41.8049	15.3033|15.3033	0.73972|0.73972	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	156;353;74;186;341|.	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57|.	.;.;.;.;CBPC6_HUMAN|.	S|A	341;335;74|187	ENSP00000360905:N341S;ENSP00000335516:N74S|.	.|.	N|T	-|-	2|1	0|0	AGBL4|AGBL4	48829174|48829174	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.585000|7.585000	0.82584|0.82584	2.215000|2.215000	0.71742|0.71742	0.528000|0.528000	0.53228|0.53228	AAC|ACA		0.458	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785	
TTC39A	22996	broad.mit.edu	37	1	51753908	51753908	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:51753908C>T	ENST00000447632.2	-	18	1811	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q	TTC39A_ENST00000530004.1_Missense_Mutation_p.R196Q|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000262675.7_Missense_Mutation_p.R525Q|TTC39A_ENST00000413473.2_Missense_Mutation_p.R556Q|TTC39A_ENST00000371750.5_Missense_Mutation_p.R553Q|TTC39A_ENST00000451380.1_Missense_Mutation_p.R552Q			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	588								p.0?(2)|p.R525Q(1)|p.R588Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGCCTGGATTCGAAAGTGTGT	0.507																																					p.R556Q												.	.	4	Substitution - Missense(2)|Whole gene deletion(2)	large_intestine(2)|thyroid(1)|central_nervous_system(1)	c.G1667A	1						.						204.0	211.0	208.0					1																	51753908		2088	4223	6311	51526496	SO:0001583	missense	22996	exon18			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1763G>A	1.37:g.51753908C>T	ENSP00000393952:p.Arg588Gln		51526496	NM_001144832	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37		.	.	.	.	.	.	.	.	.	.	C	36	5.642749	0.96704	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750	T;T;T;T;T	0.61392	0.11;0.12;0.17;0.12;0.13	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81278	0.4789	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.977;0.95;0.999;0.95;1.0	D	0.83886	0.0282	10	0.87932	D	0	-7.8593	19.6522	0.95822	0.0:1.0:0.0:0.0	.	556;552;525;588;553	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9;G3XAF8	.;.;.;TT39A_HUMAN;.	Q	196;588;556;525;552;553	ENSP00000393952:R588Q;ENSP00000406144:R556Q;ENSP00000262675:R525Q;ENSP00000397207:R552Q;ENSP00000360815:R553Q	ENSP00000262675:R525Q	R	-	2	0	TTC39A	51526496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.095000	0.76952	2.826000	0.97356	0.655000	0.94253	CGA		0.507	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2		
NRD1	4898	broad.mit.edu	37	1	52263977	52263977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:52263977C>A	ENST00000354831.7	-	24	2941	c.2752G>T	c.(2752-2754)Gaa>Taa	p.E918*	NRD1_ENST00000539524.1_Nonsense_Mutation_p.E786*|NRD1_ENST00000352171.7_Nonsense_Mutation_p.E850*|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.6_ENST00000607338.1_RNA|NRD1_ENST00000544028.1_Nonsense_Mutation_p.E718*	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	849					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E918*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						GATTTGAATTCTTTGACGAAG	0.488																																					p.E918X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2752T	1						.						96.0	92.0	93.0					1																	52263977		2203	4300	6503	52036565	SO:0001587	stop_gained	4898	exon24			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2752G>T	1.37:g.52263977C>A	ENSP00000346890:p.Glu918*		52036565	NM_002525	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Nonsense_Mutation	SNP	ENST00000354831.7	37	CCDS559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.729301|10.729301	0.99458|0.99458	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028|ENST00000440943	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.396704|.	0.27831|.	N|.	0.017661|.	.|T	.|0.79913	.|0.4528	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77088	.|-0.2717	.|3	0.20046|.	T|.	0.44|.	-10.1106|-10.1106	19.8946|19.8946	0.96949|0.96949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	850;918;786;280;850;718|264	.|.	ENSP00000262679:E850X|.	E|R	-|-	1|2	0|0	NRD1|NRD1	52036565|52036565	0.079000|0.079000	0.21365|0.21365	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.903000|0.903000	0.28475|0.28475	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.488	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	
ZCCHC11	23318	broad.mit.edu	37	1	52891133	52891133	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:52891133T>C	ENST00000371544.3	-	29	5017	c.4755A>G	c.(4753-4755)gcA>gcG	p.A1585A	ZCCHC11_ENST00000257177.4_Silent_p.A1586A	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1585	Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.A1586A(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGGGACGCGGTGCATGTTCCC	0.468																																					p.A1586A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4758G	1						.						76.0	76.0	76.0					1																	52891133		2203	4300	6503	52663721	SO:0001819	synonymous_variant	23318	exon29			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4755A>G	1.37:g.52891133T>C			52663721	NM_001009881	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.22|10.22	1.289083|1.289083	0.23478|0.23478	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000494469;ENST00000471623|ENST00000528457	.|.	.|.	.|.	4.61|4.61	2.19|2.19	0.27852|0.27852	.|.	.|.	.|.	.|.	.|.	T|T	0.42787|0.42787	0.1218|0.1218	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31724|0.31724	-0.9933|-0.9933	4|4	.|.	.|.	.|.	.|.	1.2246|1.2246	0.01931|0.01931	0.1762:0.1276:0.1815:0.5146|0.1762:0.1276:0.1815:0.5146	.|.	.|.	.|.	.|.	R|A	92;39|88	.|.	.|.	H|T	-|-	2|1	0|0	ZCCHC11|ZCCHC11	52663721|52663721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	1.627000|1.627000	0.37050|0.37050	0.776000|0.776000	0.33473|0.33473	0.254000|0.254000	0.18369|0.18369	CAC|ACC		0.468	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
ZCCHC11	23318	broad.mit.edu	37	1	52954595	52954595	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:52954595G>A	ENST00000371544.3	-	9	1763	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R501C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	501					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.R501C(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCCCAGTAGCGAAAGGCTAAC	0.368																																					p.R501C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1501T	1						.						87.0	82.0	84.0					1																	52954595		2203	4300	6503	52727183	SO:0001583	missense	23318	exon9			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1501C>T	1.37:g.52954595G>A	ENSP00000360599:p.Arg501Cys		52727183	NM_001009881	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331893	0.81801	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80581	0.4650	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.997	D	0.83628	0.0143	10	0.87932	D	0	.	19.0877	0.93212	0.0:0.0:1.0:0.0	.	260;501;501	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	C	501;501;501;260	ENSP00000257177:R501C;ENSP00000360599:R501C;ENSP00000433486:R501C;ENSP00000435256:R260C	ENSP00000257177:R501C	R	-	1	0	ZCCHC11	52727183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.611000	0.88343	0.585000	0.79938	CGC		0.368	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
PODN	127435	broad.mit.edu	37	1	53546471	53546471	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:53546471C>G	ENST00000312553.5	+	9	1735	c.1728C>G	c.(1726-1728)taC>taG	p.Y576*	PODN_ENST00000371500.3_Nonsense_Mutation_p.Y557*|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Nonsense_Mutation_p.Y434*	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	528					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGTACCTGTACCTGCAGAACA	0.612																																					p.Y557X												.	.	0			c.C1671G	1						.						77.0	73.0	74.0					1																	53546471		2203	4300	6503	53319059	SO:0001587	stop_gained	127435	exon11			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1728C>G	1.37:g.53546471C>G	ENSP00000308315:p.Tyr576*		53319059	NM_001199080	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Nonsense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	36	5.777125	0.96929	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	.	.	.	4.57	3.66	0.41972	.	0.132659	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0883	0.42432	0.0:0.8213:0.0:0.1787	.	.	.	.	X	557;434;576	.	ENSP00000308315:Y576X	Y	+	3	2	PODN	53319059	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.587000	0.36622	1.272000	0.44329	-0.140000	0.14226	TAC		0.612	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703	
DMRTB1	63948	broad.mit.edu	37	1	53930387	53930387	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:53930387G>A	ENST00000371445.3	+	3	883	c.828G>A	c.(826-828)ccG>ccA	p.P276P		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	276	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						cCCTTCCACCGCTTCCACCGC	0.662																																					p.P276P												.	.	0			c.G828A	1						.						47.0	52.0	50.0					1																	53930387		2203	4300	6503	53702975	SO:0001819	synonymous_variant	63948	exon3			AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.828G>A	1.37:g.53930387G>A			53702975	NM_033067	Q96SD2	Silent	SNP	ENST00000371445.3	37	CCDS581.1																																																																																				0.662	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1		
LRRC42	115353	broad.mit.edu	37	1	54423860	54423860	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:54423860C>A	ENST00000371370.3	+	4	1033	c.512C>A	c.(511-513)tCt>tAt	p.S171Y	LRRC42_ENST00000319223.4_Missense_Mutation_p.S171Y	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	171										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GAGATTAAGTCTTTCCGGGAG	0.458																																					p.S171Y												.	.	0			c.C512A	1						.						134.0	117.0	123.0					1																	54423860		2203	4300	6503	54196448	SO:0001583	missense	115353	exon3			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.512C>A	1.37:g.54423860C>A	ENSP00000360421:p.Ser171Tyr		54196448	NM_052940	D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	CCDS585.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164790	0.78339	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	T;T;T;T	0.32515	5.4;2.14;5.4;1.45	5.32	5.32	0.75619	.	0.193005	0.49305	D	0.000158	T	0.41213	0.1149	N	0.19112	0.55	0.52099	D	0.999941	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.73380	0.961;0.98;0.915	T	0.09292	-1.0681	10	0.24483	T	0.36	-15.294	19.5787	0.95455	0.0:1.0:0.0:0.0	.	171;171;171	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	Y	171	ENSP00000360421:S171Y;ENSP00000360419:S171Y;ENSP00000318185:S171Y;ENSP00000389368:S171Y	ENSP00000318185:S171Y	S	+	2	0	LRRC42	54196448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.206000	0.51098	2.941000	0.99782	0.655000	0.94253	TCT		0.458	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940	
CYB5RL	606495	broad.mit.edu	37	1	54640384	54640384	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:54640384C>T	ENST00000534324.1	-	6	855	c.856G>A	c.(856-858)Gca>Aca	p.A286T	RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Missense_Mutation_p.A218T|CYB5RL_ENST00000419823.2_Missense_Mutation_p.A286T|CYB5RL_ENST00000537208.1_Missense_Mutation_p.A218T|CYB5RL_ENST00000542737.1_Missense_Mutation_p.A286T|CYB5RL_ENST00000401046.3_Missense_Mutation_p.A138T|RP11-446E24.4_ENST00000525949.1_5'Flank|AL357673.1_ENST00000536061.1_5'Flank			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	286							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.A286T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CAGACCAGTGCGAATGGCTTT	0.552																																					p.A286T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G856A	1						.						39.0	41.0	40.0					1																	54640384		1956	4175	6131	54412972	SO:0001583	missense	606495	exon8				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.856G>A	1.37:g.54640384C>T	ENSP00000434343:p.Ala286Thr		54412972	NM_001031672	B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721192	0.30503	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-1.97;-2.25;-1.97	5.14	4.22	0.49857	Oxidoreductase FAD/NAD(P)-binding (1);	0.406939	0.17610	N	0.168135	T	0.75421	0.3847	N	0.13003	0.285	0.26081	N	0.981084	B;B	0.22211	0.066;0.048	B;B	0.17098	0.013;0.017	T	0.62358	-0.6871	10	0.25751	T	0.34	-25.7752	11.1905	0.48681	0.0:0.9143:0.0:0.0857	.	286;138	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	T	286;138;286;218;286;218	ENSP00000409075:A286T;ENSP00000383825:A138T;ENSP00000434343:A286T;ENSP00000287899:A218T;ENSP00000438151:A286T;ENSP00000443797:A218T	ENSP00000287899:A218T	A	-	1	0	CYB5RL	54412972	1.000000	0.71417	0.479000	0.27329	0.534000	0.34807	3.607000	0.54102	1.369000	0.46134	0.555000	0.69702	GCA		0.552	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672	
USP24	23358	broad.mit.edu	37	1	55590163	55590163	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:55590163G>A	ENST00000294383.6	-	35	4098	c.4099C>T	c.(4099-4101)Cga>Tga	p.R1367*	USP24_ENST00000407756.1_Nonsense_Mutation_p.R1207*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1367					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R1284*(1)|p.R1367*(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGTCTGTTTCGAATTCCAGCA	0.443																																					p.R1367X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C4099T	1						.						61.0	57.0	58.0					1																	55590163		1889	4112	6001	55362751	SO:0001587	stop_gained	23358	exon35			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4099C>T	1.37:g.55590163G>A	ENSP00000294383:p.Arg1367*		55362751	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	42	9.369578	0.99150	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	5.02	4.08	0.47627	.	0.082428	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5455	0.61702	0.0:0.0:0.7095:0.2905	.	.	.	.	X	1367;1207	.	ENSP00000294383:R1367X	R	-	1	2	USP24	55362751	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.401000	0.59716	1.045000	0.40225	0.455000	0.32223	CGA		0.443	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
USP24	23358	broad.mit.edu	37	1	55622702	55622702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:55622702G>T	ENST00000294383.6	-	12	1364	c.1365C>A	c.(1363-1365)taC>taA	p.Y455*	USP24_ENST00000407756.1_Nonsense_Mutation_p.Y343*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	455					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.Y455*(1)|p.Y424*(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TACGGTCACAGTATTGTGCTT	0.333																																					p.Y455X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1365A	1						.						172.0	169.0	170.0					1																	55622702		1838	4084	5922	55395290	SO:0001587	stop_gained	23358	exon12			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1365C>A	1.37:g.55622702G>T	ENSP00000294383:p.Tyr455*		55395290	NM_015306	Q6ZSY2|Q8N2Y4|Q9NXD1	Nonsense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	36	5.765328	0.96906	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	6.02	4.14	0.48551	.	0.137586	0.50627	D	0.000109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6757	0.62451	0.1867:0.0:0.8133:0.0	.	.	.	.	X	455;343	.	ENSP00000294383:Y455X	Y	-	3	2	USP24	55395290	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.959000	0.49153	0.448000	0.26722	-0.813000	0.03139	TAC		0.333	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
PPAP2B	8613	broad.mit.edu	37	1	56962345	56962345	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:56962345A>G	ENST00000371250.3	-	6	1365	c.814T>C	c.(814-816)Ttc>Ctc	p.F272L	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	272					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.F272L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GACACGAAGAAAACCTAGAAG	0.498																																					p.F272L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T814C	1						.						80.0	75.0	77.0					1																	56962345		2203	4300	6503	56734933	SO:0001583	missense	8613	exon6			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.814T>C	1.37:g.56962345A>G	ENSP00000360296:p.Phe272Leu		56734933	NM_003713	B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	ENST00000371250.3	37	CCDS604.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.825384	0.32237	.	.	ENSG00000162407	ENST00000371250	T	0.73258	-0.73	4.52	4.52	0.55395	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.312691	0.36778	N	0.002410	T	0.49321	0.1550	N	0.12831	0.26	0.80722	D	1	B	0.17465	0.022	B	0.24974	0.057	T	0.45991	-0.9223	10	0.02654	T	1	.	13.4949	0.61419	1.0:0.0:0.0:0.0	.	272	O14495	LPP3_HUMAN	L	272	ENSP00000360296:F272L	ENSP00000360296:F272L	F	-	1	0	PPAP2B	56734933	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.095000	0.89535	2.047000	0.60756	0.533000	0.62120	TTC		0.498	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022334.2	NM_003713	
PRKAA2	5563	broad.mit.edu	37	1	57140095	57140095	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:57140095A>C	ENST00000371244.4	+	2	202	c.136A>C	c.(136-138)Atc>Ctc	p.I46L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.I46L(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	GGCAGTTAAAATCTTAAATAG	0.284																																					p.I46L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A136C	1						.						70.0	78.0	75.0					1																	57140095		2202	4293	6495	56912683	SO:0001583	missense	5563	exon2			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.136A>C	1.37:g.57140095A>C	ENSP00000360290:p.Ile46Leu		56912683	NM_006252	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.981790	0.93044	.	.	ENSG00000162409	ENST00000371244	T	0.25250	1.81	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	L	0.42744	1.35	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.39035	-0.9633	10	0.87932	D	0	-21.6844	15.8369	0.78805	1.0:0.0:0.0:0.0	.	46	P54646	AAPK2_HUMAN	L	46	ENSP00000360290:I46L	ENSP00000360290:I46L	I	+	1	0	PRKAA2	56912683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.883000	0.92426	2.200000	0.70718	0.529000	0.55759	ATC		0.284	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
PRKAA2	5563	broad.mit.edu	37	1	57170075	57170075	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:57170075G>A	ENST00000371244.4	+	7	1286	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	407			R -> Q (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R407Q(2)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	CTTGGAATCCGAAGTCAGAGC	0.413																																					p.R407Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1220A	1						.						87.0	89.0	88.0					1																	57170075		2203	4300	6503	56942663	SO:0001583	missense	5563	exon7			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1220G>A	1.37:g.57170075G>A	ENSP00000360290:p.Arg407Gln		56942663	NM_006252	Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	CCDS605.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152140	0.78001	.	.	ENSG00000162409	ENST00000371244	T	0.80909	-1.43	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81629	-0.0846	10	0.14656	T	0.56	-11.3992	20.8794	0.99867	0.0:0.0:1.0:0.0	.	407	P54646	AAPK2_HUMAN	Q	407	ENSP00000360290:R407Q	ENSP00000360290:R407Q	R	+	2	0	PRKAA2	56942663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	CGA		0.413	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252	
C1orf168	199920	broad.mit.edu	37	1	57185941	57185941	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:57185941C>A	ENST00000343433.6	-	18	2116	c.2036G>T	c.(2035-2037)gGa>gTa	p.G679V		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	679								p.G679V(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ATCAAATATTCCATTTCTTGA	0.348																																					p.G679V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2036T	1						.						70.0	68.0	68.0					1																	57185941		2203	4294	6497	56958529	SO:0001583	missense	199920	exon18			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.2036G>T	1.37:g.57185941C>A	ENSP00000345972:p.Gly679Val		56958529	NM_001004303	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885631	0.72410	.	.	ENSG00000187889	ENST00000343433	T	0.61859	0.07	4.85	4.85	0.62838	Src homology-3 domain (2);	0.112829	0.39407	N	0.001371	T	0.77598	0.4154	M	0.79926	2.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.80612	-0.1305	10	0.72032	D	0.01	-24.9554	17.2486	0.87035	0.0:1.0:0.0:0.0	.	679	Q5VWT5	CA168_HUMAN	V	679	ENSP00000345972:G679V	ENSP00000345972:G679V	G	-	2	0	C1orf168	56958529	0.996000	0.38824	0.999000	0.59377	0.893000	0.52053	4.360000	0.59455	2.675000	0.91044	0.655000	0.94253	GGA		0.348	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
C1orf168	199920	broad.mit.edu	37	1	57189301	57189301	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:57189301C>T	ENST00000343433.6	-	17	2014	c.1934G>A	c.(1933-1935)aGa>aAa	p.R645K	C1orf168_ENST00000484327.1_5'Flank	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	645								p.R645K(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTTTTCATTCTGTTCTTTTC	0.308																																					p.R645K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1934A	1						.						59.0	55.0	56.0					1																	57189301		2200	4296	6496	56961889	SO:0001583	missense	199920	exon17			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1934G>A	1.37:g.57189301C>T	ENSP00000345972:p.Arg645Lys		56961889	NM_001004303	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	9.940	1.217322	0.22373	.	.	ENSG00000187889	ENST00000343433	T	0.26660	1.72	3.87	1.94	0.25998	.	0.330455	0.25319	N	0.031521	T	0.12263	0.0298	N	0.17248	0.465	0.23510	N	0.997529	B	0.15930	0.015	B	0.20184	0.028	T	0.27938	-1.0059	10	0.17369	T	0.5	-7.1492	5.3512	0.16036	0.0:0.6367:0.0:0.3633	.	645	Q5VWT5	CA168_HUMAN	K	645	ENSP00000345972:R645K	ENSP00000345972:R645K	R	-	2	0	C1orf168	56961889	0.950000	0.32346	0.584000	0.28653	0.991000	0.79684	1.243000	0.32767	0.578000	0.29487	0.655000	0.94253	AGA		0.308	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	
NFIA	4774	broad.mit.edu	37	1	61869896	61869896	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:61869896T>G	ENST00000403491.3	+	8	1680	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	NFIA_ENST00000371185.2_Missense_Mutation_p.F377C|NFIA_ENST00000485903.2_Missense_Mutation_p.F356C|NFIA_ENST00000371184.2_Missense_Mutation_p.F270C|NFIA_ENST00000371187.3_Missense_Mutation_p.F399C|NFIA_ENST00000407417.3_Missense_Mutation_p.F391C|NFIA_ENST00000371191.1_Missense_Mutation_p.F422C|NFIA_ENST00000371189.4_Missense_Mutation_p.F444C|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000357977.5_Missense_Mutation_p.F47C	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	399					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F399C(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTGAAAGAATTTGTCCAACTT	0.493																																					p.F444C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1331G	1						.						89.0	80.0	83.0					1																	61869896		2203	4300	6503	61642484	SO:0001583	missense	4774	exon9			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1196T>G	1.37:g.61869896T>G	ENSP00000384523:p.Phe399Cys		61642484	NM_001145512	B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756743	0.69648	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.79258	2.445	0.80722	D	1	D;B;D;D;D	0.76494	0.999;0.012;0.981;0.989;0.976	D;B;P;P;P	0.79108	0.992;0.01;0.749;0.866;0.633	T	0.69316	-0.5177	10	0.38643	T	0.18	-11.6107	16.1197	0.81342	0.0:0.0:0.0:1.0	.	444;422;377;399;399	F8W8W3;B1AKN8;B1AKN5;Q12857;Q12857-2	.;.;.;NFIA_HUMAN;.	C	422;391;444;399;399;377;270;356	ENSP00000360233:F422C;ENSP00000384680:F391C;ENSP00000360231:F444C;ENSP00000384523:F399C;ENSP00000360227:F377C;ENSP00000360226:F270C	ENSP00000360226:F270C	F	+	2	0	NFIA	61642484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.623000	0.83113	2.257000	0.74773	0.455000	0.32223	TTT		0.493	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	
TM2D1	83941	broad.mit.edu	37	1	62175038	62175038	+	Missense_Mutation	SNP	C	C	T	rs373304497		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:62175038C>T	ENST00000606498.1	-	3	330	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	TM2D1_ENST00000371180.2_Missense_Mutation_p.E166K|TM2D1_ENST00000294613.5_Missense_Mutation_p.E104K|TM2D1_ENST00000472989.1_5'UTR|TM2D1_ENST00000371177.2_Missense_Mutation_p.E104K			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	104					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)	p.E166K(1)		large_intestine(2)|lung(3)|ovary(1)	6						AAACCAACTTCGTTCCCAGTA	0.358																																					p.E104K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	1						.	C	LYS/GLU	0,3678		0,0,1839	92.0	88.0	89.0		310	5.5	1.0	1		89	1,8181		0,1,4090	no	missense	TM2D1	NM_032027.2	56	0,1,5929	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	104/208	62175038	1,11859	1839	4091	5930	61947626	SO:0001583	missense	83941	exon3			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.310G>A	1.37:g.62175038C>T	ENSP00000475700:p.Glu104Lys		61947626	NM_032027	A6NDA8	Missense_Mutation	SNP	ENST00000606498.1	37		.	.	.	.	.	.	.	.	.	.	C	27.8	4.861025	0.91433	0.0	1.22E-4	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	L	0.59436	1.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.73708	0.981	T	0.65459	-0.6163	9	0.10111	T	0.7	-3.277	18.396	0.90499	0.0:1.0:0.0:0.0	.	104	Q9BX74	TM2D1_HUMAN	K	166;104;104;104	.	ENSP00000294613:E104K	E	-	1	0	TM2D1	61947626	1.000000	0.71417	0.971000	0.41717	0.772000	0.43724	5.467000	0.66737	2.882000	0.98803	0.655000	0.94253	GAA		0.358	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470779.2	NM_032027	
L1TD1	54596	broad.mit.edu	37	1	62672805	62672805	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:62672805G>A	ENST00000498273.1	+	3	800	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	169								p.E169K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						acgaagttacgaagtcatggg	0.358																																					p.E169K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G505A	1						.						21.0	21.0	21.0					1																	62672805		2187	4286	6473	62445393	SO:0001583	missense	54596	exon3			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.505G>A	1.37:g.62672805G>A	ENSP00000419901:p.Glu169Lys		62445393	NM_019079	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.834054	0.00579	.	.	ENSG00000240563	ENST00000498273	T	0.13307	2.6	1.51	-0.0222	0.13948	.	.	.	.	.	T	0.03827	0.0108	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	3.3804	0.07252	0.7519:0.0:0.2481:0.0	.	169	Q5T7N2	LITD1_HUMAN	K	169	ENSP00000419901:E169K	ENSP00000419901:E169K	E	+	1	0	L1TD1	62445393	0.013000	0.17824	0.003000	0.11579	0.024000	0.10985	-0.016000	0.12613	0.072000	0.16694	-0.657000	0.03884	GAA		0.358	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
DOCK7	85440	broad.mit.edu	37	1	62954662	62954662	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:62954662C>A	ENST00000340370.5	-	41	5360	c.5343G>T	c.(5341-5343)aaG>aaT	p.K1781N	DOCK7_ENST00000251157.5_Missense_Mutation_p.K1803N	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1812	DHR-2.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.K1781N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGGATAGTTTCTTTGCATCCC	0.323																																					p.K1781N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5343T	1						.						139.0	140.0	140.0					1																	62954662		2203	4300	6503	62727250	SO:0001583	missense	85440	exon41				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5343G>T	1.37:g.62954662C>A	ENSP00000340742:p.Lys1781Asn		62727250	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.166836|4.166836	0.78339|0.78339	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.05855	.|3.38;3.38	5.93|5.93	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.22360	.|0.0539	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	.|P;D;D;D;P;P	.|0.65815	.|0.949;0.968;0.995;0.971;0.936;0.934	.|P;P;D;P;P;P	.|0.65233	.|0.694;0.794;0.933;0.818;0.669;0.794	.|T	.|0.00575	.|-1.1663	.|10	.|0.72032	.|D	.|0.01	.|.	11.0727|11.0727	0.48012|0.48012	0.0:0.8592:0.0:0.1408|0.0:0.8592:0.0:0.1408	.|.	.|1812;1803;1781;1772;1772;1803	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	X|N	975|1812;1803;1781;542	.|ENSP00000251157:K1803N;ENSP00000340742:K1781N	.|ENSP00000251157:K1803N	E|K	-|-	1|3	0|2	DOCK7|DOCK7	62727250|62727250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.680000|4.680000	0.61656|0.61656	1.517000|1.517000	0.48917|0.48917	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.323	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DOCK7	85440	broad.mit.edu	37	1	62961293	62961293	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:62961293T>C	ENST00000340370.5	-	38	4907	c.4890A>G	c.(4888-4890)gaA>gaG	p.E1630E	DOCK7_ENST00000251157.5_Silent_p.E1652E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1661					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.E1630E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCTCCTGGTGTTCCTTCATTT	0.343																																					p.E1630E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4890G	1						.						90.0	92.0	91.0					1																	62961293		2203	4298	6501	62733881	SO:0001819	synonymous_variant	85440	exon38				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4890A>G	1.37:g.62961293T>C			62733881	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	9.953	1.220555	0.22457	.	.	ENSG00000116641	ENST00000454575	.	.	.	6.02	-6.01	0.02199	.	.	.	.	.	T	0.68458	0.3003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71619	-0.4538	4	.	.	.	.	19.5642	0.95386	0.0:0.7742:0.0:0.2258	.	.	.	.	A	824	.	.	T	-	1	0	DOCK7	62733881	0.525000	0.26290	0.962000	0.40283	0.989000	0.77384	-0.190000	0.09615	-0.859000	0.04105	-0.263000	0.10527	ACA		0.343	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
DOCK7	85440	broad.mit.edu	37	1	63100491	63100491	+	Missense_Mutation	SNP	T	T	G	rs143611920		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:63100491T>G	ENST00000340370.5	-	9	1005	c.988A>C	c.(988-990)Att>Ctt	p.I330L	DOCK7_ENST00000251157.5_Missense_Mutation_p.I330L|DOCK7_ENST00000404627.2_Missense_Mutation_p.I330L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	330					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.I330F(1)|p.I330L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATAGAAAAAATTGCTGATCTT	0.338																																					p.I330L												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.A988C	1						.						116.0	125.0	122.0					1																	63100491		2203	4300	6503	62873079	SO:0001583	missense	85440	exon9				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.988A>C	1.37:g.63100491T>G	ENSP00000340742:p.Ile330Leu		62873079	NM_033407	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.720484	0.68959	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.33438	1.41;1.41;1.41	5.02	5.02	0.67125	.	0.050845	0.85682	D	0.000000	T	0.21841	0.0526	L	0.58354	1.805	0.51233	D	0.999911	P;B;B;B;P	0.42357	0.777;0.126;0.046;0.101;0.571	B;B;B;B;B	0.42138	0.303;0.201;0.084;0.148;0.377	T	0.02238	-1.1190	10	0.32370	T	0.25	.	14.9092	0.70743	0.0:0.0:0.0:1.0	.	330;330;330;330;330	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	L	330	ENSP00000251157:I330L;ENSP00000340742:I330L;ENSP00000384446:I330L	ENSP00000251157:I330L	I	-	1	0	DOCK7	62873079	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.769000	0.68865	2.097000	0.63578	0.477000	0.44152	ATT		0.338	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407	
ATG4C	84938	broad.mit.edu	37	1	63284789	63284789	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:63284789G>T	ENST00000317868.4	+	5	715	c.508G>T	c.(508-510)Gaa>Taa	p.E170*	ATG4C_ENST00000371120.3_Nonsense_Mutation_p.E170*	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	170					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.E170*(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						AGGGGAAAGAGAATTCAAAAC	0.343																																					p.E170X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G508T	1						.						87.0	91.0	90.0					1																	63284789		2203	4299	6502	63057377	SO:0001587	stop_gained	84938	exon5			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.508G>T	1.37:g.63284789G>T	ENSP00000322159:p.Glu170*		63057377	NM_178221	A6NLR8|D3DQ58|Q96K04	Nonsense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901966	0.92035	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025;ENST00000371118	.	.	.	5.92	4.0	0.46444	.	0.411149	0.30584	N	0.009320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-23.4564	11.9749	0.53085	0.0661:0.1213:0.8127:0.0	.	.	.	.	X	170	.	ENSP00000322159:E170X	E	+	1	0	ATG4C	63057377	0.995000	0.38212	1.000000	0.80357	0.927000	0.56198	5.042000	0.64202	1.460000	0.47911	0.650000	0.86243	GAA		0.343	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852	
ATG4C	84938	broad.mit.edu	37	1	63284947	63284947	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:63284947G>T	ENST00000317868.4	+	5	873	c.666G>T	c.(664-666)aaG>aaT	p.K222N	ATG4C_ENST00000371120.3_Missense_Mutation_p.K222N	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	222					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.K222N(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						AATATGGAAAGAAGTCTGGGA	0.373																																					p.K222N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G666T	1						.						89.0	90.0	90.0					1																	63284947		2203	4300	6503	63057535	SO:0001583	missense	84938	exon5			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"""AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog C (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog C (S. cerevisiae)"""	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.666G>T	1.37:g.63284947G>T	ENSP00000322159:p.Lys222Asn		63057535	NM_178221	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	ENST00000317868.4	37	CCDS623.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470210	0.43839	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025	T;T	0.43688	0.94;0.94	5.92	5.0	0.66597	.	0.142445	0.64402	D	0.000010	T	0.22360	0.0539	M	0.64567	1.98	0.46336	D	0.998995	B	0.12630	0.006	B	0.21151	0.033	T	0.07635	-1.0762	10	0.22109	T	0.4	-10.3312	8.1211	0.30971	0.1361:0.1308:0.7331:0.0	.	222	Q96DT6	ATG4C_HUMAN	N	222	ENSP00000322159:K222N;ENSP00000360161:K222N	ENSP00000322159:K222N	K	+	3	2	ATG4C	63057535	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.443000	0.52907	2.794000	0.96219	0.650000	0.86243	AAG		0.373	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025332.2	NM_032852	
EFCAB7	84455	broad.mit.edu	37	1	63991425	63991425	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:63991425A>G	ENST00000371088.4	+	2	428	c.182A>G	c.(181-183)tAc>tGc	p.Y61C	ITGB3BP_ENST00000283568.8_5'Flank|ITGB3BP_ENST00000271002.10_5'Flank|ITGB3BP_ENST00000371092.3_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	61							calcium ion binding (GO:0005509)	p.Y61C(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GATCAACTTTACTTAGGtaaa	0.284																																					p.Y61C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A182G	1						.						17.0	19.0	18.0					1																	63991425		2186	4292	6478	63764013	SO:0001583	missense	84455	exon2			BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.182A>G	1.37:g.63991425A>G	ENSP00000360129:p.Tyr61Cys		63764013	NM_032437	Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.265481	0.23136	.	.	ENSG00000203965	ENST00000371088	T	0.42900	0.96	5.01	-0.32	0.12721	EF-hand-like domain (1);	0.320649	0.37530	N	0.002054	T	0.05181	0.0138	N	0.02142	-0.665	0.34880	D	0.744514	B	0.02656	0.0	B	0.04013	0.001	T	0.18085	-1.0348	10	0.38643	T	0.18	-0.0253	5.524	0.16947	0.3429:0.2766:0.3806:0.0	.	61	A8K855	EFCB7_HUMAN	C	61	ENSP00000360129:Y61C	ENSP00000360129:Y61C	Y	+	2	0	EFCAB7	63764013	0.993000	0.37304	0.995000	0.50966	0.946000	0.59487	0.739000	0.26173	-0.033000	0.13736	0.454000	0.30748	TAC		0.284	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437	
CACHD1	57685	broad.mit.edu	37	1	65107578	65107578	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:65107578C>A	ENST00000371073.2	+	8	1082	c.1082C>A	c.(1081-1083)aCt>aAt	p.T361N	CACHD1_ENST00000290039.5_Missense_Mutation_p.T310N|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	361	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.T310N(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAAAAAGCGACTCTCCAAGTC	0.368																																					p.T310N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C929A	1						.						135.0	130.0	131.0					1																	65107578		2203	4300	6503	64880166	SO:0001583	missense	57685	exon8			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1082C>A	1.37:g.65107578C>A	ENSP00000360113:p.Thr361Asn		64880166	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	C	28.4	4.915612	0.92178	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24151	1.87;1.87	5.77	5.77	0.91146	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	N	0.19112	0.55	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.06232	-1.0838	10	0.42905	T	0.14	-23.1415	19.9906	0.97362	0.0:1.0:0.0:0.0	.	361	Q5VU97	CAHD1_HUMAN	N	361;310	ENSP00000360113:T361N;ENSP00000290039:T310N	ENSP00000290039:T310N	T	+	2	0	CACHD1	64880166	1.000000	0.71417	0.950000	0.38849	0.972000	0.66771	7.481000	0.81124	2.729000	0.93468	0.609000	0.83330	ACT		0.368	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
CACHD1	57685	broad.mit.edu	37	1	65119548	65119548	+	Missense_Mutation	SNP	C	C	T	rs146843239		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:65119548C>T	ENST00000371073.2	+	11	1648	c.1648C>T	c.(1648-1650)Cgg>Tgg	p.R550W	CACHD1_ENST00000290039.5_Missense_Mutation_p.R499W|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	550					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.R499W(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGAATTAGTTCGGCAAAATAT	0.388																																					p.R499W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1495T	1						.	C	TRP/ARG	0,4406		0,0,2203	99.0	97.0	97.0		1495	5.4	1.0	1	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	missense	CACHD1	NM_020925.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	499/1224	65119548	1,13005	2203	4300	6503	64892136	SO:0001583	missense	57685	exon11			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1648C>T	1.37:g.65119548C>T	ENSP00000360113:p.Arg550Trp		64892136	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	C	22.4	4.287113	0.80803	0.0	1.16E-4	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.27557	1.66;1.67	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.26326	-1.0106	10	0.87932	D	0	-20.7696	19.4929	0.95059	0.0:1.0:0.0:0.0	.	550	Q5VU97	CAHD1_HUMAN	W	550;499	ENSP00000360113:R550W;ENSP00000290039:R499W	ENSP00000290039:R499W	R	+	1	2	CACHD1	64892136	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.584000	0.67490	2.835000	0.97688	0.650000	0.86243	CGG		0.388	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
JAK1	3716	broad.mit.edu	37	1	65309804	65309804	+	Silent	SNP	C	C	T	rs537477751		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:65309804C>T	ENST00000342505.4	-	17	2594	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	782	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.T782T(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTTCCCAGAGCGTGGTTCCAA	0.527			Mis		ALL								C|||	1	0.000199681	0.0	0.0	5008	,	,		20212	0.0		0.0	False		,,,				2504	0.001				p.T782T			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2346A	1						.						145.0	146.0	146.0					1																	65309804		2021	4207	6228	65082392	SO:0001819	synonymous_variant	3716	exon17			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2346G>A	1.37:g.65309804C>T			65082392	NM_002227	Q59GQ2|Q9UD26	Silent	SNP	ENST00000342505.4	37	CCDS41346.1																																																																																				0.527	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
LEPR	3953	broad.mit.edu	37	1	66085655	66085655	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:66085655A>C	ENST00000349533.6	+	17	2625	c.2440A>C	c.(2440-2442)Ata>Cta	p.I814L	LEPR_ENST00000371060.3_Missense_Mutation_p.I814L|LEPR_ENST00000344610.8_Missense_Mutation_p.I814L|LEPR_ENST00000371058.1_Missense_Mutation_p.I814L|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371059.3_Missense_Mutation_p.I814L	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.I814L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCTTTACCCAATATTTATGGA	0.313																																					p.I814L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2440C	1						.						69.0	69.0	69.0					1																	66085655		2203	4297	6500	65858243	SO:0001583	missense	3953	exon17			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2440A>C	1.37:g.66085655A>C	ENSP00000330393:p.Ile814Leu		65858243	NM_001003679	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.014423	0.54468	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.32	-2.59	0.06209	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.335125	0.31092	N	0.008266	T	0.22322	0.0538	L	0.51422	1.61	0.80722	D	1	B;B;B	0.25235	0.074;0.121;0.08	B;B;B	0.23419	0.021;0.046;0.046	T	0.09509	-1.0671	10	0.25751	T	0.34	-3.8287	16.1859	0.81950	0.226:0.0:0.774:0.0	.	814;814;814	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	L	814	ENSP00000340884:I814L;ENSP00000330393:I814L;ENSP00000360099:I814L;ENSP00000360098:I814L;ENSP00000360097:I814L	ENSP00000340884:I814L	I	+	1	0	LEPR	65858243	0.147000	0.22687	0.972000	0.41901	0.978000	0.69477	-0.328000	0.07945	-0.574000	0.05990	0.528000	0.53228	ATA		0.313	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
SGIP1	84251	broad.mit.edu	37	1	67194974	67194974	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:67194974G>T	ENST00000371037.4	+	20	1847	c.1770G>T	c.(1768-1770)atG>atT	p.M590I	AL354978.1_ENST00000408728.2_RNA|SGIP1_ENST00000435165.2_Missense_Mutation_p.M95I|SGIP1_ENST00000371035.3_Missense_Mutation_p.M380I|SGIP1_ENST00000237247.6_Missense_Mutation_p.M621I|SGIP1_ENST00000371039.1_Missense_Mutation_p.M393I|SGIP1_ENST00000371036.3_Missense_Mutation_p.M392I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	590	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)	p.M393I(1)|p.M590I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCGGAGAAATGGTGTTGTCAT	0.438																																					p.M590I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1770T	1						.						128.0	119.0	122.0					1																	67194974		2203	4300	6503	66967562	SO:0001583	missense	84251	exon20			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1770G>T	1.37:g.67194974G>T	ENSP00000360076:p.Met590Ile		66967562	NM_032291	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599858	0.66332	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22	5.37	5.37	0.77165	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	L	0.42487	1.325	0.80722	D	1	B;B;B;B;B	0.23128	0.014;0.08;0.008;0.021;0.007	B;B;B;B;B	0.24701	0.042;0.055;0.015;0.015;0.019	T	0.03034	-1.1080	10	0.34782	T	0.22	-16.4108	19.1016	0.93276	0.0:0.0:1.0:0.0	.	620;95;192;380;590	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	I	621;393;380;620;593;392;590;95	ENSP00000237247:M621I;ENSP00000360078:M393I;ENSP00000360074:M380I;ENSP00000360075:M392I;ENSP00000360076:M590I;ENSP00000395525:M95I	ENSP00000237247:M621I	M	+	3	0	SGIP1	66967562	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.530000	0.81962	2.533000	0.85409	0.491000	0.48974	ATG		0.438	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
TCTEX1D1	200132	broad.mit.edu	37	1	67241977	67241977	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:67241977T>G	ENST00000282670.2	+	4	355	c.227T>G	c.(226-228)tTt>tGt	p.F76C		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	76								p.F76C(1)		large_intestine(2)|lung(10)|skin(1)	13						CCCAAACATTTTCCTGTGGTC	0.363																																					p.F76C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T227G	1						.						87.0	86.0	86.0					1																	67241977		2203	4300	6503	67014565	SO:0001583	missense	200132	exon4			AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.227T>G	1.37:g.67241977T>G	ENSP00000282670:p.Phe76Cys		67014565	NM_152665	Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	CCDS633.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.080361	0.76528	.	.	ENSG00000152760	ENST00000282670	T	0.24350	1.86	5.92	5.92	0.95590	.	0.046748	0.85682	D	0.000000	T	0.44371	0.1290	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48163	-0.9059	10	0.87932	D	0	-12.5003	15.3456	0.74334	0.0:0.0:0.0:1.0	.	76	Q8N7M0	TC1D1_HUMAN	C	76	ENSP00000282670:F76C	ENSP00000282670:F76C	F	+	2	0	TCTEX1D1	67014565	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.841000	0.75374	2.266000	0.75297	0.533000	0.62120	TTT		0.363	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665	
RPE65	6121	broad.mit.edu	37	1	68904889	68904889	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:68904889G>T	ENST00000262340.5	-	8	896	c.843C>A	c.(841-843)tcC>tcA	p.S281S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	281					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.S281S(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TGGTTTCATTGGACTCAAAAC	0.353																																					p.S281S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C843A	1						.						82.0	86.0	84.0					1																	68904889		2202	4300	6502	68677477	SO:0001819	synonymous_variant	6121	exon8			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.843C>A	1.37:g.68904889G>T			68677477	NM_000329	A8K1L0|Q5T9U3	Silent	SNP	ENST00000262340.5	37	CCDS643.1																																																																																				0.353	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
LRRC7	57554	broad.mit.edu	37	1	70504819	70504819	+	Silent	SNP	C	C	T	rs373995293		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:70504819C>T	ENST00000035383.5	+	19	3228	c.3198C>T	c.(3196-3198)atC>atT	p.I1066I	LRRC7_ENST00000415775.2_Silent_p.I350I|LRRC7_ENST00000310961.5_Silent_p.I1071I	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1066						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.I1066I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCAAAAACATCGCCAAGGATT	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20053	0.0		0.0	False		,,,				2504	0.0				p.I1066I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3198T	1						.	C		0,4406		0,0,2203	68.0	72.0	71.0		3198	-6.7	0.0	1		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRRC7	NM_020794.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1066/1538	70504819	1,13005	2203	4300	6503	70277407	SO:0001819	synonymous_variant	57554	exon19				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3198C>T	1.37:g.70504819C>T			70277407	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	CCDS645.1																																																																																				0.468	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC7	57554	broad.mit.edu	37	1	70541808	70541808	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:70541808C>T	ENST00000035383.5	+	22	4195	c.4165C>T	c.(4165-4167)Cgc>Tgc	p.R1389C	LRRC7_ENST00000415775.2_Missense_Mutation_p.R673C|LRRC7_ENST00000310961.5_Missense_Mutation_p.R1347C	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1389						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.R1389C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTTCAGCATCGCAGCCGGGA	0.507																																					p.R1389C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4165T	1						.						62.0	58.0	60.0					1																	70541808		2203	4300	6503	70314396	SO:0001583	missense	57554	exon22				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.4165C>T	1.37:g.70541808C>T	ENSP00000035383:p.Arg1389Cys		70314396	NM_020794	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118967	0.77323	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.38722	1.12;1.19;2.28	5.86	4.89	0.63831	.	0.061993	0.64402	D	0.000007	T	0.36826	0.0981	L	0.27053	0.805	0.48452	D	0.999654	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.63113	0.827;0.911;0.683	T	0.08391	-1.0724	10	0.40728	T	0.16	.	12.8894	0.58064	0.2787:0.7213:0.0:0.0	.	673;1342;1389	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	C	1347;1389;673;1165	ENSP00000309245:R1347C;ENSP00000035383:R1389C;ENSP00000394867:R673C	ENSP00000035383:R1389C	R	+	1	0	LRRC7	70314396	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.135000	0.50546	2.771000	0.95319	0.650000	0.86243	CGC		0.507	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
LRRC40	55631	broad.mit.edu	37	1	70621421	70621421	+	Missense_Mutation	SNP	C	C	T	rs143151020		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:70621421C>T	ENST00000370952.3	-	11	1358	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	427						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						ATAGAAGTGACGATGTTGCTT	0.328																																					p.V427I												.	.	0			c.G1279A	1						.	T	ILE/VAL	0,4406		0,0,2203	155.0	151.0	152.0		1279	-2.1	0.0	1	dbSNP_134	152	1,8595	817.2+/-406.9	0,1,4297	no	missense	LRRC40	NM_017768.4	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	427/603	70621421	1,13001	2203	4298	6501	70394009	SO:0001583	missense	55631	exon11				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1279G>A	1.37:g.70621421C>T	ENSP00000359990:p.Val427Ile		70394009	NM_017768	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	CCDS646.1	.	.	.	.	.	.	.	.	.	.	T	7.700	0.692809	0.15039	0.0	1.16E-4	ENSG00000066557	ENST00000370952	T	0.50001	0.76	5.8	-2.12	0.07165	.	0.357042	0.33515	N	0.004830	T	0.11024	0.0269	N	0.15975	0.35	0.09310	N	0.999998	B	0.19817	0.039	B	0.09377	0.004	T	0.21484	-1.0244	10	0.27082	T	0.32	.	14.5545	0.68091	0.0:0.5714:0.0:0.4286	.	427	Q9H9A6	LRC40_HUMAN	I	427	ENSP00000359990:V427I	ENSP00000359990:V427I	V	-	1	0	LRRC40	70394009	0.008000	0.16893	0.021000	0.16686	0.734000	0.41952	-0.370000	0.07523	-0.723000	0.04915	-0.269000	0.10298	GTC		0.328	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	
ANKRD13C	81573	broad.mit.edu	37	1	70781192	70781192	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:70781192C>T	ENST00000370944.4	-	4	948	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.R177Q	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	212					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.R212Q(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TAATCGAGGTCGTTTTTCTTC	0.289																																					p.R212Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G635A	1						.						79.0	86.0	84.0					1																	70781192		2203	4298	6501	70553780	SO:0001583	missense	81573	exon4				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.635G>A	1.37:g.70781192C>T	ENSP00000359982:p.Arg212Gln		70553780	NM_030816	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	CCDS648.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242107	0.79912	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.46063	0.89;0.88	4.83	3.89	0.44902	Ankyrin repeat-containing domain (1);	0.117832	0.56097	D	0.000032	T	0.44664	0.1304	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.67382	0.951;0.895	T	0.34601	-0.9822	10	0.33141	T	0.24	.	13.7853	0.63105	0.0:0.8445:0.1555:0.0	.	177;212	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	Q	212;177	ENSP00000359982:R212Q;ENSP00000262346:R177Q	ENSP00000262346:R177Q	R	-	2	0	ANKRD13C	70553780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.618000	0.83043	0.967000	0.38186	0.467000	0.42956	CGA		0.289	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816	
ZRANB2	9406	broad.mit.edu	37	1	71532579	71532579	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:71532579C>T	ENST00000370920.3	-	9	1110	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	ZRANB2_ENST00000477096.1_5'UTR|ZRANB2-AS1_ENST00000450461.1_RNA|MIR186_ENST00000384988.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.R270Q|ZRANB2-AS1_ENST00000426999.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	270	Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R270Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AGATCTTTTTCGTGGGGAAGA	0.378																																					p.R270Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G809A	1						.						79.0	80.0	80.0					1																	71532579		2203	4300	6503	71305167	SO:0001583	missense	9406	exon9			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.809G>A	1.37:g.71532579C>T	ENSP00000359958:p.Arg270Gln		71305167	NM_005455	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973163	0.53614	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.65732	-0.17;-0.14	5.6	5.6	0.85130	.	.	.	.	.	T	0.31857	0.0810	N	0.14661	0.345	0.43559	D	0.995875	B;B	0.23490	0.052;0.086	B;B	0.13407	0.002;0.009	T	0.15954	-1.0419	9	0.20519	T	0.43	.	19.6183	0.95645	0.0:1.0:0.0:0.0	.	270;270	O95218;O95218-2	ZRAB2_HUMAN;.	Q	270	ENSP00000359958:R270Q;ENSP00000254821:R270Q	ENSP00000254821:R270Q	R	-	2	0	ZRANB2	71305167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.002000	0.49496	2.653000	0.90120	0.650000	0.86243	CGA		0.378	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350	
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74808561	74808561	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:74808561C>A	ENST00000370899.3	+	10	1058	c.1021C>A	c.(1021-1023)Cat>Aat	p.H341N	TNNI3K_ENST00000326637.3_Missense_Mutation_p.H240N|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.H341N|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.H354N|TNNI3K_ENST00000370891.2_Missense_Mutation_p.H341N|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.H240N(1)									TGTCCCACTCCATTTCTGTTC	0.358																																					p.H341N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1021A	1						.						195.0	180.0	185.0					1																	74808561		2203	4300	6503	74581149	SO:0001583	missense	51086	exon10					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1021C>A	1.37:g.74808561C>A	ENSP00000359936:p.His341Asn		74581149	NM_001199327		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	C	22.3	4.272895	0.80580	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.71698	-0.56;-0.56;-0.59;-0.59;-0.56	5.02	5.02	0.67125	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.86310	0.5902	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.989	D;D;D;D	0.97110	1.0;0.995;0.995;0.978	D	0.88808	0.3290	10	0.72032	D	0.01	.	18.5449	0.91043	0.0:1.0:0.0:0.0	.	240;341;341;341	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	N	341;341;341;341;240	ENSP00000359936:H341N;ENSP00000359932:H341N;ENSP00000450895:H341N;ENSP00000359928:H341N;ENSP00000322251:H240N	ENSP00000322251:H240N	H	+	1	0	RP11-653A5.2;AC093158.1	74581149	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.173000	0.77612	2.632000	0.89209	0.650000	0.86243	CAT		0.358	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819697	74819697	+	Missense_Mutation	SNP	G	G	A	rs201470572		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:74819697G>A	ENST00000370899.3	+	13	1401	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	TNNI3K_ENST00000326637.3_Missense_Mutation_p.R354H|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R455H|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R468H|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R455H|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.R354H(2)									GGTCACATTCGCCTGGTTCAG	0.403																																					p.R455H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1364A	1						.						155.0	135.0	142.0					1																	74819697		2203	4300	6503	74592285	SO:0001583	missense	51086	exon13					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1364G>A	1.37:g.74819697G>A	ENSP00000359936:p.Arg455His		74592285	NM_001199327		Missense_Mutation	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	G	18.04	3.534936	0.64972	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.22	0.237	0.15475	Ankyrin repeat-containing domain (4);	0.104545	0.64402	N	0.000002	T	0.53916	0.1826	L	0.41124	1.26	0.52099	D	0.999941	B;P;P;D	0.89917	0.35;0.765;0.874;1.0	B;B;B;D	0.83275	0.141;0.125;0.165;0.996	T	0.52064	-0.8625	10	0.29301	T	0.29	.	9.8896	0.41283	0.3339:0.0:0.6661:0.0	.	354;455;455;455	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	H	455;455;455;455;354	ENSP00000359936:R455H;ENSP00000359932:R455H;ENSP00000450895:R455H;ENSP00000359928:R455H;ENSP00000322251:R354H	ENSP00000322251:R354H	R	+	2	0	RP11-653A5.2;AC093158.1	74592285	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.113000	0.50376	-0.095000	0.12351	-0.126000	0.14955	CGC		0.403	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835096	74835096	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:74835096C>T	ENST00000370899.3	+	18	1834	c.1797C>T	c.(1795-1797)tgC>tgT	p.C599C	TNNI3K_ENST00000326637.3_Silent_p.C498C|FPGT-TNNI3K_ENST00000370895.1_Silent_p.C599C|FPGT-TNNI3K_ENST00000557284.2_Silent_p.C612C|TNNI3K_ENST00000370891.2_Silent_p.C599C|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.C498C(1)									ATACCTACTGCTCCAAGTCAG	0.458																																					p.C599C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1797T	1						.						158.0	141.0	147.0					1																	74835096		2203	4299	6502	74607684	SO:0001819	synonymous_variant	51086	exon18					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1797C>T	1.37:g.74835096C>T			74607684	NM_001199327		Silent	SNP	ENST00000370899.3	37		.	.	.	.	.	.	.	.	.	.	C	9.732	1.162409	0.21538	.	.	ENSG00000116783	ENST00000526236;ENST00000525480	.	.	.	5.27	4.36	0.52297	.	.	.	.	.	T	0.49236	0.1545	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50346	-0.8839	4	.	.	.	.	10.3714	0.44055	0.0:0.8488:0.0:0.1512	.	.	.	.	V	45;18	.	.	A	+	2	0	AC093158.1	74607684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.476000	0.35420	1.208000	0.43306	0.561000	0.74099	GCT		0.458	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3		
ERICH3	127254	broad.mit.edu	37	1	75086429	75086429	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:75086429A>G	ENST00000326665.5	-	8	1207	c.989T>C	c.(988-990)cTa>cCa	p.L330P	C1orf173_ENST00000420661.2_Missense_Mutation_p.L133P|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		330								p.L330P(1)		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						TTTTTCAAGTAGTTTGCCTTT	0.348																																					p.L330P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T989C	1						.						100.0	97.0	98.0					1																	75086429		2203	4300	6503	74859017	SO:0001583	missense	127254	exon8																														ENST00000326665.5:c.989T>C	1.37:g.75086429A>G	ENSP00000322609:p.Leu330Pro		74859017	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138875	0.77775	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.37411	1.61;1.2	5.88	5.88	0.94601	.	.	.	.	.	T	0.55226	0.1907	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	T	0.61907	-0.6966	9	0.87932	D	0	-6.7844	15.9623	0.79939	1.0:0.0:0.0:0.0	.	133;330	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	P	330;133	ENSP00000322609:L330P;ENSP00000398581:L133P	ENSP00000322609:L330P	L	-	2	0	C1orf173	74859017	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	8.473000	0.90410	2.246000	0.74042	0.533000	0.62120	CTA		0.348	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ERICH3	127254	broad.mit.edu	37	1	75097428	75097428	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:75097428G>A	ENST00000326665.5	-	7	1006	c.788C>T	c.(787-789)gCt>gTt	p.A263V	C1orf173_ENST00000420661.2_Missense_Mutation_p.A66V	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		263								p.A263V(1)		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						GCCATTTGGAGCAGTGGTTGG	0.368																																					p.A263V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C788T	1						.						174.0	157.0	163.0					1																	75097428		2203	4300	6503	74870016	SO:0001583	missense	127254	exon7																														ENST00000326665.5:c.788C>T	1.37:g.75097428G>A	ENSP00000322609:p.Ala263Val		74870016	NM_001002912	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467083	0.63625	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.35973	1.68;1.28	5.39	5.39	0.77823	.	.	.	.	.	T	0.55657	0.1934	M	0.73598	2.24	0.50039	D	0.999841	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.57057	-0.7876	9	0.52906	T	0.07	-14.3549	18.7652	0.91869	0.0:0.0:1.0:0.0	.	66;263	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	V	263;66	ENSP00000322609:A263V;ENSP00000398581:A66V	ENSP00000322609:A263V	A	-	2	0	C1orf173	74870016	1.000000	0.71417	1.000000	0.80357	0.144000	0.21451	2.477000	0.45180	2.543000	0.85770	0.650000	0.86243	GCT		0.368	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
ST6GALNAC3	256435	broad.mit.edu	37	1	76779647	76779647	+	Missense_Mutation	SNP	G	G	A	rs142835503		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:76779647G>A	ENST00000328299.3	+	2	324	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	59					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.R59L(1)|p.R59Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CGGCCCCTTCGAACTCACTAT	0.433																																					p.R59Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G176A	1						.						121.0	109.0	113.0					1																	76779647		2203	4300	6503	76552235	SO:0001583	missense	256435	exon2				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.176G>A	1.37:g.76779647G>A	ENSP00000329214:p.Arg59Gln		76552235	NM_152996	Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919673	0.33908	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.30182	1.54	5.12	4.19	0.49359	.	0.301976	0.34700	N	0.003744	T	0.09686	0.0238	L	0.47716	1.5	0.31381	N	0.679024	B;B	0.19445	0.036;0.009	B;B	0.15052	0.012;0.002	T	0.18085	-1.0348	10	0.22109	T	0.4	-21.4972	7.0694	0.25169	0.1599:0.142:0.698:0.0	.	59;59	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	Q	59;59;58	ENSP00000329214:R59Q	ENSP00000329214:R59Q	R	+	2	0	ST6GALNAC3	76552235	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.871000	0.48459	1.117000	0.41842	0.491000	0.48974	CGA		0.433	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	
ST6GALNAC3	256435	broad.mit.edu	37	1	76877855	76877855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:76877855C>T	ENST00000328299.3	+	3	524	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	126					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.R126*(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GACCATGATTCGAGTTGTGTC	0.433																																					p.R126X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.C376T	1						.						131.0	123.0	125.0					1																	76877855		2203	4300	6503	76650443	SO:0001587	stop_gained	256435	exon3				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.376C>T	1.37:g.76877855C>T	ENSP00000329214:p.Arg126*		76650443	NM_152996	Q6PCE0|Q6UX29|Q8N259	Nonsense_Mutation	SNP	ENST00000328299.3	37	CCDS672.1	.	.	.	.	.	.	.	.	.	.	C	37	6.613898	0.97705	.	.	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993;ENST00000415813	.	.	.	6.17	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4154	14.4089	0.67101	0.2078:0.7922:0.0:0.0	.	.	.	.	X	126;126;125;60	.	ENSP00000329214:R126X	R	+	1	2	ST6GALNAC3	76650443	0.614000	0.27017	1.000000	0.80357	0.968000	0.65278	1.051000	0.30417	2.941000	0.99782	0.655000	0.94253	CGA		0.433	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	
AK5	26289	broad.mit.edu	37	1	77984384	77984384	+	Missense_Mutation	SNP	T	T	G	rs143683857		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:77984384T>G	ENST00000354567.2	+	11	1546	c.1283T>G	c.(1282-1284)aTt>aGt	p.I428S	AK5_ENST00000344720.5_Missense_Mutation_p.I402S	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	428	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.I428S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATCAGAGACATTATGGAACGT	0.468																																					p.I402S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1205G	1						.						113.0	101.0	105.0					1																	77984384		2203	4300	6503	77756972	SO:0001583	missense	26289	exon11			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1283T>G	1.37:g.77984384T>G	ENSP00000346577:p.Ile428Ser		77756972	NM_012093	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886423	0.33348	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.77620	-1.11;-1.11	5.21	1.38	0.22167	.	0.344266	0.27198	N	0.020463	T	0.56673	0.2001	M	0.74467	2.265	0.80722	D	1	B	0.10296	0.003	B	0.17979	0.02	T	0.59177	-0.7503	10	0.48119	T	0.1	25.4988	1.5925	0.02657	0.1581:0.129:0.1636:0.5493	.	428	Q9Y6K8	KAD5_HUMAN	S	428;402	ENSP00000346577:I428S;ENSP00000341430:I402S	ENSP00000341430:I402S	I	+	2	0	AK5	77756972	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	1.130000	0.31393	0.899000	0.36444	0.533000	0.62120	ATT		0.468	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	
USP33	23032	broad.mit.edu	37	1	78194070	78194070	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:78194070C>T	ENST00000370793.1	-	11	1484	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	USP33_ENST00000370794.3_Missense_Mutation_p.E349K|USP33_ENST00000370792.3_Missense_Mutation_p.E380K|USP33_ENST00000357428.1_Missense_Mutation_p.E380K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	380	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E380K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTATCAAATTCGCCTTCAGAA	0.333																																					p.E380K	Melanoma(152;72 1870 11110 26780 42647)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1138A	1						.						100.0	102.0	101.0					1																	78194070		2203	4299	6502	77966658	SO:0001583	missense	23032	exon11			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1138G>A	1.37:g.78194070C>T	ENSP00000359829:p.Glu380Lys		77966658	NM_015017	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334728	0.41297	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.09911	2.94;2.94;2.94;2.93	5.3	5.3	0.74995	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.946325	0.08995	N	0.863819	T	0.04407	0.0121	N	0.19112	0.55	0.45580	D	0.998525	P;B;P	0.35745	0.462;0.335;0.518	B;B;B	0.37239	0.103;0.065;0.244	T	0.40757	-0.9546	10	0.33940	T	0.23	.	13.6355	0.62221	0.0:0.9254:0.0:0.0746	.	380;349;380	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	K	349;380;380;380	ENSP00000359830:E349K;ENSP00000359829:E380K;ENSP00000350009:E380K;ENSP00000359828:E380K	ENSP00000350009:E380K	E	-	1	0	USP33	77966658	1.000000	0.71417	0.999000	0.59377	0.242000	0.25591	2.982000	0.49337	2.657000	0.90304	0.591000	0.81541	GAA		0.333	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
NEXN	91624	broad.mit.edu	37	1	78383682	78383682	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:78383682T>C	ENST00000334785.7	+	4	441	c.257T>C	c.(256-258)gTa>gCa	p.V86A	NEXN_ENST00000457030.1_Missense_Mutation_p.V86A|NEXN_ENST00000330010.8_Missense_Mutation_p.V22A|NEXN_ENST00000294624.8_Missense_Mutation_p.V86A	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.V86A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAGGAAGATGTATCTTCTAAA	0.294																																					p.V86A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T257C	1						.						108.0	108.0	108.0					1																	78383682		1813	4069	5882	78156270	SO:0001583	missense	91624	exon4			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.257T>C	1.37:g.78383682T>C	ENSP00000333938:p.Val86Ala		78156270	NM_144573		Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.	.	.	.	.	.	.	.	.	.	T	0.919	-0.716464	0.03206	.	.	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T;T;T	0.64438	-0.1;0.32;0.27;-0.09;0.32;-0.09	5.75	-4.73	0.03259	.	1.649140	0.03620	N	0.236246	T	0.10508	0.0257	N	0.08118	0	0.09310	N	1	B;B;B;B	0.20052	0.014;0.041;0.0;0.0	B;B;B;B	0.20184	0.013;0.028;0.0;0.0	T	0.03566	-1.1024	10	0.05959	T	0.93	-0.0032	2.1331	0.03754	0.1983:0.1238:0.3702:0.3077	.	22;86;86;22	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;.;NEXN_HUMAN;.	A	22;86;22;86;86;86	ENSP00000383814:V22A;ENSP00000388048:V86A;ENSP00000327363:V22A;ENSP00000294624:V86A;ENSP00000333938:V86A;ENSP00000411902:V86A	ENSP00000294624:V86A	V	+	2	0	NEXN	78156270	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.711000	0.05019	-0.727000	0.04888	0.528000	0.53228	GTA		0.294	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
DNAJB4	11080	broad.mit.edu	37	1	78478867	78478867	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:78478867G>A	ENST00000370763.5	+	2	601	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	115					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.R115Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTGGAAGACGAATGGGTGGT	0.438																																					p.R115Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G344A	1						.						148.0	152.0	151.0					1																	78478867		2203	4300	6503	78251455	SO:0001583	missense	11080	exon2			U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.344G>A	1.37:g.78478867G>A	ENSP00000359799:p.Arg115Gln		78251455	NM_007034	B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	CCDS684.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767366	0.49574	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.73047	-0.71;-0.71	5.26	5.26	0.73747	.	0.163302	0.53938	D	0.000047	T	0.43809	0.1264	L	0.31476	0.935	0.80722	D	1	B	0.25809	0.135	B	0.15484	0.013	T	0.46721	-0.9171	10	0.13470	T	0.59	.	18.928	0.92553	0.0:0.0:1.0:0.0	.	115	Q9UDY4	DNJB4_HUMAN	Q	115	ENSP00000399494:R115Q;ENSP00000359799:R115Q	ENSP00000359799:R115Q	R	+	2	0	DNAJB4	78251455	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.588000	0.98232	2.439000	0.82584	0.644000	0.83932	CGA		0.438	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3		
PTGFR	5737	broad.mit.edu	37	1	79002310	79002310	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:79002310A>C	ENST00000370757.3	+	3	1255	c.1018A>C	c.(1018-1020)Aat>Cat	p.N340H	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.N340H	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	340					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.N340H(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TTCCATTAAAAATTCCTTAAA	0.413																																					p.N340H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1018C	1						.						73.0	71.0	71.0					1																	79002310		2203	4299	6502	78774898	SO:0001583	missense	5737	exon3			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.1018A>C	1.37:g.79002310A>C	ENSP00000359793:p.Asn340His		78774898	NM_000959	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	CCDS686.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644348	0.67244	.	.	ENSG00000122420	ENST00000370758;ENST00000370757	D;D	0.90004	-2.6;-2.6	5.85	5.85	0.93711	.	0.437579	0.25425	N	0.030774	D	0.85944	0.5815	L	0.59436	1.845	0.80722	D	1	P	0.37955	0.612	B	0.41088	0.347	D	0.87947	0.2721	10	0.66056	D	0.02	-8.0821	16.5479	0.84454	1.0:0.0:0.0:0.0	.	340	P43088	PF2R_HUMAN	H	340	ENSP00000359794:N340H;ENSP00000359793:N340H	ENSP00000359793:N340H	N	+	1	0	PTGFR	78774898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.849000	0.55910	2.371000	0.80710	0.533000	0.62120	AAT		0.413	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959	
LPHN2	23266	broad.mit.edu	37	1	82450967	82450967	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:82450967G>T	ENST00000370728.1	+	23	4069	c.3424G>T	c.(3424-3426)Gat>Tat	p.D1142Y	LPHN2_ENST00000319517.6_Missense_Mutation_p.D1129Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1142Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1142Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1144Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1157Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.D1067Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.D1129Y|LPHN2_ENST00000370715.1_Missense_Mutation_p.D1129Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1157Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1157Y|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1157Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.D1144Y			O95490	LPHN2_HUMAN	latrophilin 2	1142					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.D1157Y(1)|p.D1129Y(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGTGGAATGATACTGTGAG	0.318																																					p.D1129Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3385T	1						.						96.0	99.0	98.0					1																	82450967		2203	4295	6498	82223555	SO:0001583	missense	23266	exon19			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3424G>T	1.37:g.82450967G>T	ENSP00000359763:p.Asp1142Tyr		82223555	NM_012302	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.3|21.3|21.3	4.133763|4.133763|4.133763	0.77662|0.77662|0.77662	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.76968|.|.	-0.97;-1.03;-0.93;-0.93;-1.06;-1.01;-0.9;-0.8;-0.9;-1.06;-1.01;-0.93;-0.93|.|.	5.01|5.01|5.01	4.1|4.1|4.1	0.47936|0.47936|0.47936	.|.|.	0.104530|.|.	0.64402|.|.	D|.|.	0.000005|.|.	T|T|.	0.64692|0.64692|.	0.2621|0.2621|.	M|M|M	0.76574|0.76574|0.76574	2.34|2.34|2.34	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.97110|.|.	1.0;1.0|.|.	T|T|.	0.67166|0.67166|.	-0.5739|-0.5739|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	13.7485|13.7485|13.7485	0.62890|0.62890|0.62890	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.|.	1129;1129|.|.	O95490-4;O95490-2|.|.	.;.|.|.	Y|I|L	1067;1142;1142;1157;1157;1144;1129;1129;1129;1157;1144;1157;1142|1033|147	ENSP00000359756:D1067Y;ENSP00000359763:D1142Y;ENSP00000359765:D1142Y;ENSP00000359762:D1157Y;ENSP00000359760:D1157Y;ENSP00000359758:D1144Y;ENSP00000353006:D1129Y;ENSP00000359750:D1129Y;ENSP00000322270:D1129Y;ENSP00000359752:D1157Y;ENSP00000378344:D1144Y;ENSP00000271029:D1157Y;ENSP00000337306:D1142Y|.|.	ENSP00000271029:D1157Y|.|.	D|M|X	+|+|+	1|3|2	0|0|2	LPHN2|LPHN2|LPHN2	82223555|82223555|82223555	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	9.813000|9.813000|9.813000	0.99286|0.99286|0.99286	1.252000|1.252000|1.252000	0.44001|0.44001|0.44001	0.484000|0.484000|0.484000	0.47621|0.47621|0.47621	GAT|ATG|TGA		0.318	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
SPATA1	100505741	broad.mit.edu	37	1	84981996	84981996	+	RNA	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:84981996G>T	ENST00000370638.2	+	0	219							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1									p.R7I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		GATAAAAAAAGAAACAAAATT	0.284																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	1						.						16.0	16.0	16.0					1																	84981996		2178	4239	6417	84754584			64173	.			AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84981996G>T			84754584	.	A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	Missense_Mutation	SNP	ENST00000370638.2	37																																																																																					0.284	SPATA1-007	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000314701.1	NM_022354	
WDR63	126820	broad.mit.edu	37	1	85594403	85594403	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:85594403T>G	ENST00000294664.6	+	21	2510	c.2330T>G	c.(2329-2331)tTt>tGt	p.F777C	WDR63_ENST00000370596.1_Missense_Mutation_p.F738C|WDR63_ENST00000326813.8_Missense_Mutation_p.F738C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	777								p.F777C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAACAGCAATTTATAGCCACA	0.323																																					p.F777C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2330G	1						.						66.0	65.0	65.0					1																	85594403		2203	4300	6503	85366991	SO:0001583	missense	126820	exon21				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2330T>G	1.37:g.85594403T>G	ENSP00000294664:p.Phe777Cys		85366991	NM_145172	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	CCDS702.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.355543	0.61293	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.046981	0.85682	D	0.000000	T	0.54319	0.1851	M	0.69358	2.11	0.49299	D	0.999776	D;D	0.71674	0.998;0.994	D;P	0.68353	0.957;0.867	T	0.56715	-0.7933	10	0.51188	T	0.08	-16.344	16.1647	0.81745	0.0:0.0:0.0:1.0	.	738;777	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	C	738;738;777;59	ENSP00000359628:F738C;ENSP00000317463:F738C;ENSP00000294664:F777C;ENSP00000435544:F59C	ENSP00000294664:F777C	F	+	2	0	WDR63	85366991	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.752000	0.62176	2.226000	0.72624	0.377000	0.23210	TTT		0.323	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
SYDE2	84144	broad.mit.edu	37	1	85624530	85624530	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:85624530C>T	ENST00000341460.5	-	7	3537	c.3488G>A	c.(3487-3489)cGa>cAa	p.R1163Q		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	1163					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R1163Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTGTTTTTTCGATCCACTGT	0.363																																					p.R1163Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3488A	1						.						81.0	72.0	75.0					1																	85624530		1844	4087	5931	85397118	SO:0001583	missense	84144	exon7			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.3488G>A	1.37:g.85624530C>T	ENSP00000340594:p.Arg1163Gln		85397118	NM_032184	Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730928	0.30684	.	.	ENSG00000097096	ENST00000341460	T	0.41400	1.0	6.17	0.515	0.17013	.	0.415793	0.26723	N	0.022827	T	0.09730	0.0239	N	0.22421	0.69	0.27179	N	0.960724	B	0.21452	0.056	B	0.10450	0.005	T	0.33954	-0.9848	10	0.22706	T	0.39	.	10.6562	0.45675	0.0:0.3658:0.0:0.6342	.	1163	Q5VT97	SYDE2_HUMAN	Q	1163	ENSP00000340594:R1163Q	ENSP00000340594:R1163Q	R	-	2	0	SYDE2	85397118	1.000000	0.71417	0.650000	0.29550	0.961000	0.63080	1.230000	0.32612	-0.141000	0.11374	0.655000	0.94253	CGA		0.363	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2		
ZNHIT6	54680	broad.mit.edu	37	1	86173682	86173682	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:86173682A>T	ENST00000370574.3	-	1	419	c.286T>A	c.(286-288)Tgg>Agg	p.W96R	ZNHIT6_ENST00000431532.2_Intron			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	96	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.W96R(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TGTTCTACCCACTGGCCAGCC	0.512																																					p.W96R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T286A	1						.						185.0	160.0	169.0					1																	86173682		2203	4300	6503	85946270	SO:0001583	missense	54680	exon1			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.286T>A	1.37:g.86173682A>T	ENSP00000359606:p.Trp96Arg		85946270	NM_017953	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	CCDS707.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.777488	0.49786	.	.	ENSG00000117174	ENST00000370574	T	0.52983	0.64	4.24	-1.66	0.08265	.	0.940206	0.08801	N	0.891727	T	0.12902	0.0313	L	0.27053	0.805	0.32882	D	0.510618	B	0.17465	0.022	B	0.09377	0.004	T	0.21415	-1.0246	10	0.23891	T	0.37	0.092	7.7089	0.28667	0.3184:0.5848:0.0968:0.0	.	96	Q9NWK9	BCD1_HUMAN	R	96	ENSP00000359606:W96R	ENSP00000359606:W96R	W	-	1	0	ZNHIT6	85946270	0.001000	0.12720	0.307000	0.25127	0.837000	0.47467	0.107000	0.15375	-0.049000	0.13379	0.402000	0.26972	TGG		0.512	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
CLCA1	1179	broad.mit.edu	37	1	86952426	86952426	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:86952426C>T	ENST00000234701.3	+	8	1523	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	CLCA1_ENST00000394711.1_Missense_Mutation_p.S391L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	391	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.S391L(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGGCTTCGATCGGCATTTACT	0.443																																					p.S391L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1172T	1						.						91.0	89.0	89.0					1																	86952426		2203	4300	6503	86725014	SO:0001583	missense	1179	exon7				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1172C>T	1.37:g.86952426C>T	ENSP00000234701:p.Ser391Leu		86725014	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	.	.	.	.	.	.	.	.	.	.	c	2.185	-0.386741	0.04966	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.11495	2.77;2.77	5.65	2.76	0.32466	von Willebrand factor, type A (3);	1.362600	0.04628	N	0.403159	T	0.01627	0.0052	N	0.11131	0.1	0.09310	N	1	B;B	0.15719	0.001;0.014	B;B	0.22753	0.005;0.041	T	0.45644	-0.9247	10	0.21014	T	0.42	-0.2257	4.4438	0.11588	0.2367:0.5338:0.0:0.2295	.	391;154	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	L	391;391;104	ENSP00000234701:S391L;ENSP00000378200:S391L	ENSP00000234701:S391L	S	+	2	0	CLCA1	86725014	0.001000	0.12720	0.184000	0.23157	0.015000	0.08874	1.134000	0.31442	0.324000	0.23333	-0.119000	0.15052	TCG		0.443	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
CLCA4	22802	broad.mit.edu	37	1	87033232	87033232	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:87033232C>T	ENST00000370563.3	+	7	1122	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	CLCA4_ENST00000263723.5_Silent_p.I73I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	360	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.I360I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATAAGCTAATCCAAATAAAAA	0.403																																					p.I360I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1080T	1						.						96.0	97.0	97.0					1																	87033232		1905	4134	6039	86805820	SO:0001819	synonymous_variant	22802	exon7			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.1080C>T	1.37:g.87033232C>T			86805820	NM_012128	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	CCDS41355.1																																																																																				0.403	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128	
HS2ST1	9653	broad.mit.edu	37	1	87538852	87538852	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:87538852T>C	ENST00000370550.5	+	2	723	c.360T>C	c.(358-360)gaT>gaC	p.D120D	HS2ST1_ENST00000370551.4_Silent_p.D120D|RP5-1052I5.2_ENST00000370548.2_Silent_p.D94D|HS2ST1_ENST00000356813.4_Silent_p.D94D	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	120					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)	p.D120D(1)|p.D94D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CATTGCAAGATCAGGTAATTA	0.353																																					p.D120D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T360C	1						.						118.0	109.0	112.0					1																	87538852		2203	4300	6503	87311440	SO:0001819	synonymous_variant	9653	exon2			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.360T>C	1.37:g.87538852T>C			87311440	NM_001134492	D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Silent	SNP	ENST00000370550.5	37	CCDS711.1																																																																																				0.353	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2	NM_012262	
CCBL2	56267	broad.mit.edu	37	1	89414893	89414893	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:89414893G>T	ENST00000260508.4	-	11	1359	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.S307Y	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	341					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.S341Y(1)|p.S307Y(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		TTTTGGCAAAGAATTAAAGTA	0.388																																					p.S307Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C920A	1						.						95.0	88.0	90.0					1																	89414893		2203	4300	6503	89187481	SO:0001583	missense	56267	exon10			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.1022C>A	1.37:g.89414893G>T	ENSP00000260508:p.Ser341Tyr		89187481	NM_001008662	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316686	0.81469	.	.	ENSG00000137944	ENST00000370491;ENST00000260508	D;D	0.90788	-2.73;-2.73	5.34	5.34	0.76211	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.227363	0.46758	D	0.000262	D	0.93848	0.8032	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	D	0.94145	0.7400	10	0.72032	D	0.01	-25.137	19.0364	0.92980	0.0:0.0:1.0:0.0	.	341	Q6YP21	KAT3_HUMAN	Y	307;341	ENSP00000359522:S307Y;ENSP00000260508:S341Y	ENSP00000260508:S341Y	S	-	2	0	CCBL2	89187481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.045000	0.57368	2.515000	0.84797	0.467000	0.42956	TCT		0.388	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661	
GBP1	2633	broad.mit.edu	37	1	89528859	89528859	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:89528859C>T	ENST00000370473.4	-	2	278	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	20	GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.R20Q(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CGCCATCAGTCGCCCATTAGT	0.512																																					p.R20Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G59A	1						.						130.0	119.0	123.0					1																	89528859		2203	4298	6501	89301447	SO:0001583	missense	2633	exon2			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.59G>A	1.37:g.89528859C>T	ENSP00000359504:p.Arg20Gln		89301447	NM_002053	D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	1.480	-0.557575	0.03967	.	.	ENSG00000117228	ENST00000370473	T	0.73258	-0.73	4.32	-2.86	0.05717	Guanylate-binding protein, N-terminal (1);	1.269890	0.05461	N	0.551184	T	0.12944	0.0314	N	0.01284	-0.91	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21280	-1.0250	10	0.02654	T	1	.	9.9851	0.41837	0.0:0.2336:0.0:0.7664	.	20	P32455	GBP1_HUMAN	Q	20	ENSP00000359504:R20Q	ENSP00000359504:R20Q	R	-	2	0	GBP1	89301447	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.366000	0.20365	-1.006000	0.03412	-0.671000	0.03813	CGA		0.512	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053	
GBP2	2634	broad.mit.edu	37	1	89575548	89575548	+	Missense_Mutation	SNP	G	G	A	rs143545626		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:89575548G>A	ENST00000370466.3	-	10	1739	c.1471C>T	c.(1471-1473)Cgt>Tgt	p.R491C	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	491					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R491C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GCCTTTATACGTTCCACTGTG	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20294	0.0		0.0	False		,,,				2504	0.0				p.R491C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1471T	1						.	G	CYS/ARG	5,4401	9.9+/-24.2	0,5,2198	78.0	67.0	70.0		1471	-1.5	0.0	1	dbSNP_134	70	0,8600		0,0,4300	yes	missense	GBP2	NM_004120.3	180	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	491/592	89575548	5,13001	2203	4300	6503	89348136	SO:0001583	missense	2634	exon10			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.1471C>T	1.37:g.89575548G>A	ENSP00000359497:p.Arg491Cys		89348136	NM_004120	Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	CCDS719.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.998	1.232793	0.22626	0.001135	0.0	ENSG00000162645	ENST00000370466	T	0.02323	4.34	3.96	-1.45	0.08828	Guanylate-binding protein, C-terminal (3);	0.685383	0.12426	U	0.469966	T	0.00906	0.0030	M	0.68317	2.08	0.09310	N	1	P	0.39737	0.685	B	0.29598	0.104	T	0.44081	-0.9351	10	0.45353	T	0.12	-4.0799	3.3974	0.07311	0.325:0.0:0.3883:0.2866	.	491	P32456	GBP2_HUMAN	C	491	ENSP00000359497:R491C	ENSP00000359497:R491C	R	-	1	0	GBP2	89348136	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.604000	0.05667	-0.426000	0.07360	-0.142000	0.14014	CGT		0.363	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120	
GBP6	163351	broad.mit.edu	37	1	89849690	89849690	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:89849690G>A	ENST00000370456.4	+	10	1600	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	GBP6_ENST00000535065.1_Missense_Mutation_p.E373K	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	503					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E503K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GAAGGAACAGGAACTTTTAAA	0.438																																					p.E503K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1507A	1						.						67.0	61.0	63.0					1																	89849690		2203	4300	6503	89622278	SO:0001583	missense	163351	exon10			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1507G>A	1.37:g.89849690G>A	ENSP00000359485:p.Glu503Lys		89622278	NM_198460	A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	ENST00000370456.4	37	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334943	0.24253	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.53857	0.6;0.6	5.43	1.35	0.21983	Guanylate-binding protein, C-terminal (3);	0.610963	0.16485	N	0.212378	T	0.15609	0.0376	L	0.31664	0.95	0.09310	N	1	B	0.30889	0.299	B	0.36186	0.219	T	0.27191	-1.0081	10	0.11794	T	0.64	-4.0654	4.8973	0.13757	0.2454:0.165:0.5895:0.0	.	503	Q6ZN66	GBP6_HUMAN	K	474;503;373	ENSP00000359485:E503K;ENSP00000442530:E373K	ENSP00000359485:E503K	E	+	1	0	GBP6	89622278	0.173000	0.23056	0.005000	0.12908	0.463000	0.32649	0.383000	0.20651	0.635000	0.30488	0.591000	0.81541	GAA		0.438	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460	
LRRC8B	23507	broad.mit.edu	37	1	90049517	90049517	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:90049517C>A	ENST00000330947.2	+	5	1668	c.1308C>A	c.(1306-1308)gtC>gtA	p.V436V	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Silent_p.V436V|LRRC8B_ENST00000439853.1_Silent_p.V436V	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	436					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V436V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CAGACAATGTCTTTGAGTTAA	0.453																																					p.V436V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1308A	1						.						63.0	66.0	65.0					1																	90049517		2203	4300	6503	89822105	SO:0001819	synonymous_variant	23507	exon5			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1308C>A	1.37:g.90049517C>A			89822105	NM_015350	D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	ENST00000330947.2	37	CCDS724.1																																																																																				0.453	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350	
LRRC8D	55144	broad.mit.edu	37	1	90399378	90399378	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:90399378A>G	ENST00000337338.5	+	3	1158	c.751A>G	c.(751-753)Aca>Gca	p.T251A	LRRC8D_ENST00000394593.3_Missense_Mutation_p.T251A	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	251					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T251A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CAGTGCCAGTACACCAATGAT	0.458																																					p.T251A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A751G	1						.						53.0	51.0	52.0					1																	90399378		2203	4300	6503	90171966	SO:0001583	missense	55144	exon3			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.751A>G	1.37:g.90399378A>G	ENSP00000338887:p.Thr251Ala		90171966	NM_001134479	D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	CCDS726.1	.	.	.	.	.	.	.	.	.	.	A	5.160	0.215035	0.09810	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.44482	1.56;1.56;0.92	5.88	5.88	0.94601	.	0.058490	0.64402	D	0.000002	T	0.16342	0.0393	N	0.22421	0.69	0.58432	D	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.07751	-1.0756	9	.	.	.	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	251	Q7L1W4	LRC8D_HUMAN	A	251	ENSP00000338887:T251A;ENSP00000378093:T251A;ENSP00000405784:T251A	.	T	+	1	0	LRRC8D	90171966	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.337000	0.79256	2.246000	0.74042	0.533000	0.62120	ACA		0.458	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103	
ZNF326	284695	broad.mit.edu	37	1	90487882	90487882	+	Missense_Mutation	SNP	C	C	T	rs572409353		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:90487882C>T	ENST00000340281.4	+	11	1522	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	ZNF326_ENST00000455342.2_Missense_Mutation_p.A254V|ZNF326_ENST00000370447.3_Missense_Mutation_p.A371V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	460					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.A460V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		ATAGTGAAGGCGCGATATGAA	0.323																																					p.A460V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1379T	1						.						198.0	219.0	212.0					1																	90487882		2203	4299	6502	90260470	SO:0001583	missense	284695	exon11			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1379C>T	1.37:g.90487882C>T	ENSP00000340796:p.Ala460Val		90260470	NM_182976	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603313	0.66445	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.23147	1.92;1.92;1.92	5.26	4.35	0.52113	.	0.126175	0.52532	D	0.000067	T	0.12347	0.0300	L	0.44542	1.39	0.42777	D	0.993859	B;B	0.17268	0.021;0.008	B;B	0.12156	0.007;0.007	T	0.03545	-1.1026	10	0.51188	T	0.08	-2.7662	14.1345	0.65279	0.0:0.9269:0.0:0.073	.	460;460	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	V	460;460;371;254	ENSP00000340796:A460V;ENSP00000359476:A371V;ENSP00000403470:A254V	ENSP00000340796:A460V	A	+	2	0	ZNF326	90260470	0.995000	0.38212	0.736000	0.30914	0.911000	0.54048	3.350000	0.52224	1.347000	0.45714	-0.229000	0.12294	GCG		0.323	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781	
BRDT	676	broad.mit.edu	37	1	92446934	92446934	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:92446934A>C	ENST00000362005.3	+	12	2278	c.1860A>C	c.(1858-1860)acA>acC	p.T620T	BRDT_ENST00000394530.3_Silent_p.T574T|BRDT_ENST00000370389.2_Silent_p.T547T|BRDT_ENST00000402388.1_Silent_p.T620T|BRDT_ENST00000399546.2_Silent_p.T620T	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	620					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.T620T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AACGTCAAACAAAATGTAGGT	0.373																																					p.T620T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1860C	1						.						62.0	61.0	61.0					1																	92446934		2203	4300	6503	92219522	SO:0001819	synonymous_variant	676	exon11			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1860A>C	1.37:g.92446934A>C			92219522	NM_207189	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	CCDS735.1																																																																																				0.373	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189	
EPHX4	253152	broad.mit.edu	37	1	92518155	92518155	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:92518155A>G	ENST00000370383.4	+	6	895	c.797A>G	c.(796-798)tAt>tGt	p.Y266C		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	266						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.Y266C(1)		central_nervous_system(1)|large_intestine(3)|lung(8)	12						GCTTATATTTATGTCTTTTCT	0.333																																					p.Y266C	GBM(140;473 1857 5172 22066 49719)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A797G	1						.						77.0	71.0	73.0					1																	92518155		2203	4300	6503	92290743	SO:0001583	missense	253152	exon6			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.797A>G	1.37:g.92518155A>G	ENSP00000359410:p.Tyr266Cys		92290743	NM_173567	Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	CCDS736.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914381	0.72983	.	.	ENSG00000172031	ENST00000370383	T	0.66815	-0.23	5.06	5.06	0.68205	.	0.056917	0.64402	D	0.000001	T	0.81014	0.4735	M	0.89601	3.045	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.84981	0.0888	10	0.56958	D	0.05	.	14.8024	0.69926	1.0:0.0:0.0:0.0	.	266	Q8IUS5	EPHX4_HUMAN	C	266	ENSP00000359410:Y266C	ENSP00000359410:Y266C	Y	+	2	0	EPHX4	92290743	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	8.870000	0.92336	1.897000	0.54924	0.383000	0.25322	TAT		0.333	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	
C1orf146	388649	broad.mit.edu	37	1	92709824	92709824	+	Nonsense_Mutation	SNP	G	G	T	rs61732740	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:92709824G>T	ENST00000370375.3	+	4	359	c.211G>T	c.(211-213)Gaa>Taa	p.E71*	C1orf146_ENST00000370373.2_Nonsense_Mutation_p.E12*	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	71								p.E71*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GTCAACTGAAGAAATATTTCT	0.323																																					p.E71X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G211T	1						.						43.0	47.0	45.0					1																	92709824		2201	4298	6499	92482412	SO:0001587	stop_gained	388649	exon4				CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.211G>T	1.37:g.92709824G>T	ENSP00000359401:p.Glu71*		92482412	NM_001012425	Q5VVC4	Nonsense_Mutation	SNP	ENST00000370375.3	37	CCDS30772.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843232	0.71488	.	.	ENSG00000203910	ENST00000370375;ENST00000370373	.	.	.	5.64	5.64	0.86602	.	0.131649	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.2215	19.8946	0.96949	0.0:0.0:1.0:0.0	.	.	.	.	X	71;50	.	ENSP00000359399:E50X	E	+	1	0	C1orf146	92482412	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	6.776000	0.75023	2.937000	0.99478	0.650000	0.86243	GAA		0.323	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1	NM_001012425	
EVI5	7813	broad.mit.edu	37	1	93142745	93142745	+	Silent	SNP	C	C	T	rs199503198		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:93142745C>T	ENST00000370331.1	-	10	1269	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	EVI5_ENST00000543509.1_Silent_p.T420T|EVI5_ENST00000540033.1_Silent_p.T420T	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	420	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.T420T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCATTTCTTTCGTTTTTATTG	0.274																																					p.T420T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1260A	1						.						151.0	145.0	147.0					1																	93142745		2200	4300	6500	92915333	SO:0001819	synonymous_variant	7813	exon10			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1260G>A	1.37:g.93142745C>T			92915333	NM_005665	A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	ENST00000370331.1	37	CCDS30774.1																																																																																				0.274	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
MTF2	22823	broad.mit.edu	37	1	93594885	93594885	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:93594885G>A	ENST00000370298.4	+	11	1329	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.R245Q|MTF2_ENST00000370303.4_Intron|MTF2_ENST00000545708.1_Missense_Mutation_p.R245Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	347					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R347Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TTTGGGTTGCGAATTCGTGTT	0.333																																					p.R347Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040A	1						.						98.0	102.0	101.0					1																	93594885		2203	4300	6503	93367473	SO:0001583	missense	22823	exon11			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1040G>A	1.37:g.93594885G>A	ENSP00000359321:p.Arg347Gln		93367473	NM_007358	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	32	5.182978	0.94885	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953	T;T;T	0.39406	1.08;1.08;1.42	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.40272	0.1110	L	0.49571	1.57	0.80722	D	1	D;D	0.60160	0.987;0.971	P;P	0.48795	0.59;0.588	T	0.24835	-1.0149	10	0.52906	T	0.07	-3.6505	19.8683	0.96840	0.0:0.0:1.0:0.0	.	347;245	Q9Y483;B4DZG1	MTF2_HUMAN;.	Q	245;245;347;245	ENSP00000444962:R245Q;ENSP00000443295:R245Q;ENSP00000359321:R347Q	ENSP00000359321:R347Q	R	+	2	0	MTF2	93367473	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.724000	0.91462	2.753000	0.94483	0.655000	0.94253	CGA		0.333	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358	
FNBP1L	54874	broad.mit.edu	37	1	93965033	93965033	+	Silent	SNP	C	C	T	rs371807631		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:93965033C>T	ENST00000271234.7	+	2	184	c.33C>T	c.(31-33)ttC>ttT	p.F11F	FNBP1L_ENST00000370253.2_Silent_p.F11F|FNBP1L_ENST00000370256.4_Silent_p.F11F|FNBP1L_ENST00000604705.1_Silent_p.F11F|FNBP1L_ENST00000260506.8_Silent_p.F11F	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	11	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.F11F(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGGATCAGTTCGACAGCTTAG	0.338																																					p.F11F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C33T	1						.	C	,,	1,3631		0,1,1815	48.0	44.0	45.0		33,33,33	-0.3	1.0	1		45	0,8166		0,0,4083	no	coding-synonymous,coding-synonymous,coding-synonymous	FNBP1L	NM_001024948.2,NM_001164473.2,NM_017737.4	,,	0,1,5898	TT,TC,CC		0.0,0.0275,0.0085	,,	11/552,11/606,11/548	93965033	1,11797	1816	4083	5899	93737621	SO:0001819	synonymous_variant	54874	exon2				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.33C>T	1.37:g.93965033C>T			93737621	NM_001024948	J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Silent	SNP	ENST00000271234.7	37	CCDS53343.1																																																																																				0.338	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737	
ABCA4	24	broad.mit.edu	37	1	94471003	94471003	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:94471003G>A	ENST00000370225.3	-	44	6227	c.6141C>T	c.(6139-6141)atC>atT	p.I2047I	ABCA4_ENST00000535881.1_Silent_p.I166I|ABCA4_ENST00000536513.1_Silent_p.I317I|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2047	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		I -> N (in ARMD2). {ECO:0000269|PubMed:19028736}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.I2047I(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCACCTTTTCGATTTCTTCTG	0.448																																					p.I2047I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6141T	1						.						113.0	111.0	112.0					1																	94471003		2203	4300	6503	94243591	SO:0001819	synonymous_variant	24	exon44			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6141C>T	1.37:g.94471003G>A			94243591	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	CCDS747.1																																																																																				0.448	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	
ABCD3	5825	broad.mit.edu	37	1	94955291	94955291	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:94955291C>T	ENST00000370214.4	+	14	1192	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.R280W|ABCD3_ENST00000454898.2_Missense_Mutation_p.R414W|ABCD3_ENST00000536817.1_Missense_Mutation_p.R317W	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	390					ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.R390W(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTTTACTGCTCGGATTACAGA	0.318																																					p.R390W												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C1168T	1						.						60.0	60.0	60.0					1																	94955291		2203	4300	6503	94727879	SO:0001583	missense	5825	exon14			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1168C>T	1.37:g.94955291C>T	ENSP00000359233:p.Arg390Trp		94727879	NM_002858	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140429	0.77775	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99014	-3.76;-5.33;-5.33;-5.33	5.74	4.83	0.62350	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99399	0.9788	H	0.96142	3.775	0.80722	D	1	D;B;D	0.89917	1.0;0.007;1.0	D;B;D	0.85130	0.997;0.004;0.997	D	0.99060	1.0830	10	0.87932	D	0	-9.2525	9.6425	0.39848	0.1404:0.7891:0.0:0.0705	.	414;280;390	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	W	280;414;317;390	ENSP00000377780:R280W;ENSP00000403357:R414W;ENSP00000440692:R317W;ENSP00000359233:R390W	ENSP00000359233:R390W	R	+	1	2	ABCD3	94727879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.621000	0.67743	1.438000	0.47492	0.650000	0.86243	CGG		0.318	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	
CNN3	1266	broad.mit.edu	37	1	95367749	95367749	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:95367749G>A	ENST00000370206.4	-	4	695	c.312C>T	c.(310-312)ttC>ttT	p.F104F	CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000545882.1_Silent_p.F63F|CNN3_ENST00000538964.1_Silent_p.F104F|CNN3_ENST00000394202.4_Intron	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	104	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)		p.F104F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CATTTGCTTCGAATATGTCAT	0.383																																					p.F104F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C312T	1						.						128.0	116.0	120.0					1																	95367749		2203	4300	6503	95140337	SO:0001819	synonymous_variant	1266	exon4			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.312C>T	1.37:g.95367749G>A			95140337	NM_001839	B4DFK6|B4DP09|F8WA86|Q6FHA7	Silent	SNP	ENST00000370206.4	37	CCDS30775.1																																																																																				0.383	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839	
RWDD3	25950	broad.mit.edu	37	1	95710080	95710080	+	Silent	SNP	G	G	A	rs557203291	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:95710080G>A	ENST00000370202.4	+	2	475	c.399G>A	c.(397-399)acG>acA	p.T133T	RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000429514.2_Silent_p.T118T|RWDD3_ENST00000263893.6_Silent_p.T133T|RP11-57H12.5_ENST00000444665.1_RNA|RP11-57H12.6_ENST00000604534.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	133					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T133T(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		CAACAAGCACGACCATGGATG	0.413													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20939	0.0		0.0	False		,,,				2504	0.0				p.T133T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G399A	1						.						127.0	120.0	122.0					1																	95710080		1950	4125	6075	95482668	SO:0001819	synonymous_variant	25950	exon2			BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.399G>A	1.37:g.95710080G>A			95482668	NM_001199682	A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Silent	SNP	ENST00000370202.4	37	CCDS41357.1																																																																																				0.413	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485	
DPYD	1806	broad.mit.edu	37	1	97981341	97981341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:97981341G>A	ENST00000370192.3	-	13	1781	c.1681C>T	c.(1681-1683)Cga>Tga	p.R561*		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	561					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.R561*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AAAGCTCTTCGAATCATTGAT	0.388																																					p.R561X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1681T	1						.						61.0	59.0	60.0					1																	97981341		2203	4300	6503	97753929	SO:0001587	stop_gained	1806	exon13			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1681C>T	1.37:g.97981341G>A	ENSP00000359211:p.Arg561*		97753929	NM_000110	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Nonsense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	40	7.944959	0.98574	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.2	4.26	0.50523	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9946	15.1674	0.72840	0.0:0.0:0.8576:0.1424	.	.	.	.	X	561	.	ENSP00000359211:R561X	R	-	1	2	DPYD	97753929	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.794000	0.62482	1.286000	0.44565	0.585000	0.79938	CGA		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
PLPPR5	163404	broad.mit.edu	37	1	99358629	99358629	+	Nonstop_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:99358629C>A	ENST00000263177.4	-	6	1186	c.965G>T	c.(964-966)tGa>tTa	p.*322L	LPPR5_ENST00000370188.3_Nonstop_Mutation_p.*317L	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		0						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.*322L(1)									GCTTCGATATCATGTGACTTC	0.378																																					p.X322L												.	.	1	Nonstop extension(1)	large_intestine(1)	c.G965T	1						.						119.0	112.0	114.0					1																	99358629		2203	4300	6503	99131217	SO:0001578	stop_lost	163404	exon6																														ENST00000263177.4:c.965G>T	1.37:g.99358629C>A			99131217	NM_001037317	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Nonstop_Mutation	SNP	ENST00000263177.4	37	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926193	0.52759	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6289	0.91352	0.0:1.0:0.0:0.0	.	.	.	.	L	317;322	.	.	X	-	2	2	AL161744.1	99131217	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.661000	0.68025	2.623000	0.88846	0.557000	0.71058	TGA		0.378	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1		
OR2T11	127077	broad.mit.edu	37	1	248789924	248789924	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr1:248789924C>T	ENST00000330803.2	-	1	567	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R169Q(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTTGATACTTCGGGAGCCACA	0.507																																					p.R169Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G506A	1						.						54.0	60.0	58.0					1																	248789924		2047	4233	6280	246856547	SO:0001583	missense	127077	exon1			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.506G>A	1.37:g.248789924C>T	ENSP00000328934:p.Arg169Gln		246856547	NM_001001964	Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	8.429	0.848082	0.17034	.	.	ENSG00000183130	ENST00000330803	T	0.00044	8.83	4.38	0.12	0.14691	GPCR, rhodopsin-like superfamily (1);	0.777423	0.10998	N	0.610864	T	0.00144	0.0004	L	0.45137	1.4	0.09310	N	1	B	0.25105	0.118	B	0.29077	0.098	T	0.10989	-1.0606	10	0.54805	T	0.06	.	8.1251	0.30995	0.0:0.5212:0.0:0.4788	.	169	Q8NH01	O2T11_HUMAN	Q	169	ENSP00000328934:R169Q	ENSP00000328934:R169Q	R	-	2	0	OR2T11	246856547	0.000000	0.05858	0.002000	0.10522	0.253000	0.25986	-0.663000	0.05299	0.086000	0.17137	0.655000	0.94253	CGA		0.507	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964	
SLX4IP	128710	broad.mit.edu	37	20	10438866	10438866	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:10438866A>C	ENST00000334534.5	+	2	194	c.14A>C	c.(13-15)aAa>aCa	p.K5T		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	5								p.K5T(1)									GCATCTAAGAAATTTGCTGTT	0.274																																					p.K5T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A14C	20						.						75.0	85.0	82.0					20																	10438866		2203	4300	6503	10386866	SO:0001583	missense	128710	exon2			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.14A>C	20.37:g.10438866A>C	ENSP00000335557:p.Lys5Thr		10386866	NM_001009608	Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.885167	0.72410	.	.	ENSG00000149346	ENST00000334534	T	0.23950	1.88	5.46	5.46	0.80206	.	0.410373	0.22962	N	0.053527	T	0.39410	0.1077	L	0.34521	1.04	0.35761	D	0.820169	D	0.89917	1.0	D	0.87578	0.998	T	0.50381	-0.8835	10	0.72032	D	0.01	0.4009	12.2142	0.54396	1.0:0.0:0.0:0.0	.	5	Q5VYV7	CT094_HUMAN	T	5	ENSP00000335557:K5T	ENSP00000335557:K5T	K	+	2	0	C20orf94	10386866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.039000	0.57325	2.192000	0.70111	0.460000	0.39030	AAA		0.274	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608	
JAG1	182	broad.mit.edu	37	20	10626067	10626067	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:10626067C>T	ENST00000254958.5	-	16	2565	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Missense_Mutation_p.D525N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	684	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.D684N(2)|p.D684Y(1)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTGACCAGGTCGCGACACGTG	0.507									Alagille Syndrome																												p.D684N												JAG1,lung,NS,Substitution - Missense,0 	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.G2050A	20						.						135.0	129.0	131.0					20																	10626067		2203	4300	6503	10574067	SO:0001583	missense	182	exon16	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2050G>A	20.37:g.10626067C>T	ENSP00000254958:p.Asp684Asn		10574067	NM_000214	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755276	0.89843	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	T;T	0.66280	-0.2;-0.2	5.63	5.63	0.86233	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	L	0.28694	0.88	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	T	0.73418	-0.3989	10	0.59425	D	0.04	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	684	P78504	JAG1_HUMAN	N	684;525	ENSP00000254958:D684N;ENSP00000389519:D525N	ENSP00000254958:D684N	D	-	1	0	JAG1	10574067	1.000000	0.71417	0.971000	0.41717	0.914000	0.54420	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	GAC		0.507	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
BTBD3	22903	broad.mit.edu	37	20	11899074	11899074	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:11899074G>A	ENST00000405977.1	+	2	776	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	BTBD3_ENST00000254977.3_5'UTR|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_Missense_Mutation_p.E51K|BTBD3_ENST00000399006.2_5'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	51					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.E51K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AGTTTGTTATGAAATAATTAC	0.458																																					p.E51K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G151A	20						.						148.0	163.0	158.0					20																	11899074		2203	4300	6503	11847074	SO:0001583	missense	22903	exon1			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.151G>A	20.37:g.11899074G>A	ENSP00000384545:p.Glu51Lys		11847074	NM_014962	D3DW19|Q5JY73	Missense_Mutation	SNP	ENST00000405977.1	37	CCDS13113.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191552	0.58017	.	.	ENSG00000132640	ENST00000405977;ENST00000378226	D;D	0.81579	-1.51;-1.51	6.17	6.17	0.99709	.	0.046950	0.85682	D	0.000000	T	0.77805	0.4185	L	0.46157	1.445	0.80722	D	1	B	0.20887	0.049	B	0.10450	0.005	T	0.70077	-0.4971	10	0.39692	T	0.17	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	51	Q9Y2F9	BTBD3_HUMAN	K	51	ENSP00000384545:E51K;ENSP00000367471:E51K	ENSP00000367471:E51K	E	+	1	0	BTBD3	11847074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAA		0.458	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3		
SPTLC3	55304	broad.mit.edu	37	20	13107243	13107243	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:13107243C>T	ENST00000399002.2	+	9	1432	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.S313L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	386					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.L386L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TTAAGGACCTCGTGGATTATT	0.423																																					p.L386L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1158T	20						.						282.0	258.0	266.0					20																	13107243		1862	4093	5955	13055243	SO:0001819	synonymous_variant	55304	exon9			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1158C>T	20.37:g.13107243C>T			13055243	NM_018327	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Silent	SNP	ENST00000399002.2	37	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660759	0.47572	.	.	ENSG00000172296	ENST00000378194	D	0.94828	-3.53	6.17	-4.37	0.03633	.	.	.	.	.	D	0.90868	0.7131	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	D	0.84392	0.0555	6	0.87932	D	0	-15.1221	4.2651	0.10759	0.0825:0.3636:0.1806:0.3733	.	.	.	.	L	313	ENSP00000367436:S313L	ENSP00000367436:S313L	S	+	2	0	SPTLC3	13055243	0.942000	0.31987	0.713000	0.30519	0.926000	0.56050	-0.055000	0.11807	-0.348000	0.08286	-1.004000	0.02495	TCG		0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327	
ISM1	140862	broad.mit.edu	37	20	13260403	13260403	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:13260403C>A	ENST00000262487.4	+	3	507	c.501C>A	c.(499-501)tcC>tcA	p.S167S	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	167						extracellular region (GO:0005576)		p.S167S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGTCCCTGTCCTTGGCCAGGG	0.607																																					p.S167S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C501A	20						.						49.0	58.0	55.0					20																	13260403		1916	4109	6025	13208403	SO:0001819	synonymous_variant	140862	exon3			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.501C>A	20.37:g.13260403C>A			13208403	NM_080826	Q8WVH9	Silent	SNP	ENST00000262487.4	37	CCDS46579.1																																																																																				0.607	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		
ISM1	140862	broad.mit.edu	37	20	13279767	13279767	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:13279767C>T	ENST00000262487.4	+	6	1062	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	352	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)		p.S352S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AGGACGCCAGCGGGCCCAAGG	0.647																																					p.S352S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1056T	20						.						37.0	43.0	41.0					20																	13279767		2144	4236	6380	13227767	SO:0001819	synonymous_variant	140862	exon6			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1056C>T	20.37:g.13279767C>T			13227767	NM_080826	Q8WVH9	Silent	SNP	ENST00000262487.4	37	CCDS46579.1																																																																																				0.647	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2		
ESF1	51575	broad.mit.edu	37	20	13698019	13698019	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:13698019A>G	ENST00000202816.1	-	13	2365	c.2258T>C	c.(2257-2259)tTt>tCt	p.F753S		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	753	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F753S(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GGTTACCTCAAAGTCATCCTC	0.378																																					p.F753S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2258C	20						.						242.0	212.0	222.0					20																	13698019		2203	4300	6503	13646019	SO:0001583	missense	51575	exon13				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2258T>C	20.37:g.13698019A>G	ENSP00000202816:p.Phe753Ser		13646019	NM_016649	Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580661	0.86748	.	.	ENSG00000089048	ENST00000202816	T	0.38722	1.12	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76416	-0.2967	10	0.66056	D	0.02	0.3166	16.2496	0.82475	1.0:0.0:0.0:0.0	.	753	Q9H501	ESF1_HUMAN	S	753	ENSP00000202816:F753S	ENSP00000202816:F753S	F	-	2	0	ESF1	13646019	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.095000	0.89535	2.371000	0.80710	0.533000	0.62120	TTT		0.378	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649	
SEL1L2	80343	broad.mit.edu	37	20	13899763	13899763	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:13899763T>G	ENST00000284951.5	-	4	364	c.290A>C	c.(289-291)aAg>aCg	p.K97T	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.K97T			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	97						integral component of membrane (GO:0016021)		p.K97T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTCTGCTTGCTTTTGTACTAT	0.299																																					p.K97T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A290C	20						.						134.0	116.0	122.0					20																	13899763		1803	4069	5872	13847763	SO:0001583	missense	80343	exon4			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.290A>C	20.37:g.13899763T>G	ENSP00000284951:p.Lys97Thr		13847763	NM_025229	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	T	7.595	0.671544	0.14776	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.25749	1.78;2.11	5.4	3.09	0.35607	Tetratricopeptide-like helical (1);	1.651740	0.03296	N	0.188236	T	0.18383	0.0441	N	0.24115	0.695	0.09310	N	1	B;B	0.20887	0.049;0.041	B;B	0.19391	0.016;0.025	T	0.23691	-1.0181	10	0.15952	T	0.53	0.3627	6.4567	0.21934	0.0:0.2202:0.0:0.7798	.	97;97	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	T	97	ENSP00000367312:K97T;ENSP00000284951:K97T	ENSP00000284951:K97T	K	-	2	0	SEL1L2	13847763	0.005000	0.15991	0.052000	0.19188	0.773000	0.43773	0.057000	0.14279	1.003000	0.39130	0.377000	0.23210	AAG		0.299	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
SIRPB2	284759	broad.mit.edu	37	20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A	rs374055663		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	134					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478																																					p.S141L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C422T	20						.	G	LEU/SER,	2,3134		0,2,1566	181.0	156.0	164.0		422,	-0.9	0.0	20		164	0,7164		0,0,3582	no	missense,intron	SIRPB2	NM_001122962.1,NM_001134836.1	145,	0,2,5148	AA,AG,GG		0.0,0.0638,0.0194	benign,	141/343,	1460374	2,10298	1568	3582	5150	1408374	SO:0001583	missense	284759	exon2			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.422C>T	20.37:g.1460374G>A	ENSP00000352849:p.Ser141Leu		1408374	NM_001122962	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	5.872	0.344962	0.11126	6.38E-4	0.0	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.39406	1.08;4.32	4.03	-0.905	0.10527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.051780	0.02728	N	0.114791	T	0.17152	0.0412	N	0.01874	-0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.18808	-1.0325	10	0.11485	T	0.65	-16.8466	7.1865	0.25803	0.55:0.0:0.45:0.0	.	3;141	F5H204;Q5JXA9	.;SIRB2_HUMAN	L	141;3	ENSP00000352849:S141L;ENSP00000445632:S3L	ENSP00000352849:S141L	S	-	2	0	SIRPB2	1408374	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.125000	0.31332	-0.048000	0.13401	-0.140000	0.14226	TCG		0.478	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459	
SIRPD	128646	broad.mit.edu	37	20	1532361	1532361	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:1532361G>A	ENST00000381623.3	-	2	1586	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	SIRPD_ENST00000381621.1_Missense_Mutation_p.R133W			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	133	Ig-like V-type.					extracellular region (GO:0005576)		p.R133W(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGAGTGCCCCGACCTGATTGG	0.448																																					p.R133W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C397T	20						.						132.0	125.0	128.0					20																	1532361		2203	4300	6503	1480361	SO:0001583	missense	128646	exon2			AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.397C>T	20.37:g.1532361G>A	ENSP00000371036:p.Arg133Trp		1480361	NM_178460	B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	37	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523008	0.44866	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.66280	-0.2;0.93	3.68	0.196	0.15159	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	3.180680	0.01980	U	0.044736	T	0.54351	0.1853	L	0.43923	1.385	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43798	-0.9369	10	0.66056	D	0.02	.	5.3158	0.15854	0.121:0.4093:0.4697:0.0	.	133	Q9H106	SIRPD_HUMAN	W	133	ENSP00000371036:R133W;ENSP00000371034:R133W	ENSP00000371034:R133W	R	-	1	2	SIRPD	1480361	0.000000	0.05858	0.003000	0.11579	0.035000	0.12851	-0.407000	0.07178	0.330000	0.23485	0.557000	0.71058	CGG		0.448	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460	
SIRPG	55423	broad.mit.edu	37	20	1629804	1629804	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:1629804G>A	ENST00000303415.3	-	2	388	c.324C>T	c.(322-324)agC>agT	p.S108S	SIRPG_ENST00000381580.1_Silent_p.S75S|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Silent_p.S108S|SIRPG_ENST00000381583.2_Silent_p.S108S|SIRPG_ENST00000216927.4_Silent_p.S108S	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	108	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S108S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGGGGTGATGCTACTGATGC	0.463																																					p.S108S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C324T	20						.						308.0	252.0	271.0					20																	1629804		2203	4300	6503	1577804	SO:0001819	synonymous_variant	55423	exon2			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.324C>T	20.37:g.1629804G>A			1577804	NM_001039508	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000303415.3	37	CCDS13020.2																																																																																				0.463	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	
SEL1L2	80343	broad.mit.edu	37	20	13912368	13912368	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:13912368C>A	ENST00000284951.5	-	3	238	c.164G>T	c.(163-165)aGa>aTa	p.R55I	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.R55I			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	55						integral component of membrane (GO:0016021)		p.R55I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ACTAGATGTTCTTTGTTCCAA	0.279																																					p.R55I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164T	20						.						81.0	75.0	77.0					20																	13912368		1792	4055	5847	13860368	SO:0001583	missense	80343	exon3			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.164G>T	20.37:g.13912368C>A	ENSP00000284951:p.Arg55Ile		13860368	NM_025229	B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37		.	.	.	.	.	.	.	.	.	.	C	9.765	1.171205	0.21621	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.26373	1.74;2.09	5.34	2.2	0.27929	.	0.094376	0.46758	D	0.000280	T	0.12220	0.0297	N	0.24115	0.695	0.33157	D	0.546411	P;P	0.43169	0.8;0.612	B;B	0.35353	0.201;0.201	T	0.24584	-1.0156	10	0.21014	T	0.42	-6.3378	7.5477	0.27777	0.0:0.6931:0.0:0.3069	.	55;55	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	I	55	ENSP00000367312:R55I;ENSP00000284951:R55I	ENSP00000284951:R55I	R	-	2	0	SEL1L2	13860368	0.986000	0.35501	0.937000	0.37676	0.163000	0.22366	0.107000	0.15375	0.680000	0.31366	0.655000	0.94253	AGA		0.279	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229	
KIF16B	55614	broad.mit.edu	37	20	16348206	16348206	+	Intron	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:16348206A>G	ENST00000354981.2	-	22	3656				KIF16B_ENST00000408042.1_Missense_Mutation_p.V1255A|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.V1255A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTCACCCATGACTTTCACTGT	0.458																																					p.V1255A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3764C	20						.						75.0	69.0	71.0					20																	16348206		876	1991	2867	16296206	SO:0001627	intron_variant	55614	exon23			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3498+3024T>C	20.37:g.16348206A>G			16296206	NM_001199866	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351299	0.24512	.	.	ENSG00000089177	ENST00000408042	T	0.74002	-0.8	5.38	5.38	0.77491	.	0.474023	0.21941	N	0.066866	T	0.66703	0.2816	.	.	.	0.80722	D	1	P	0.46395	0.877	B	0.37943	0.261	T	0.70749	-0.4787	9	0.52906	T	0.07	.	13.3322	0.60495	1.0:0.0:0.0:0.0	.	1255	Q96L93-2	.	A	1255	ENSP00000384164:V1255A	ENSP00000384164:V1255A	V	-	2	0	KIF16B	16296206	0.421000	0.25465	0.163000	0.22734	0.009000	0.06853	4.370000	0.59517	2.040000	0.60383	0.445000	0.29226	GTC		0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
KIF16B	55614	broad.mit.edu	37	20	16493483	16493483	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:16493483C>T	ENST00000354981.2	-	5	591	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	KIF16B_ENST00000408042.1_Missense_Mutation_p.R145Q|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R145Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	145	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.R145Q(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GACTTCAGTTCGAAAAGAAGC	0.483																																					p.R145Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G434A	20						.						107.0	93.0	98.0					20																	16493483		2203	4300	6503	16441483	SO:0001583	missense	55614	exon5			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.434G>A	20.37:g.16493483C>T	ENSP00000347076:p.Arg145Gln		16441483	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	35	5.593849	0.96602	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74737	-0.87;-0.87;-0.87	5.79	5.79	0.91817	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.77505	0.4140	N	0.13327	0.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77557	0.978;0.978;0.983;0.99	T	0.81118	-0.1078	10	0.72032	D	0.01	.	18.2217	0.89904	0.0:1.0:0.0:0.0	.	145;145;145;145	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	Q	145	ENSP00000347076:R145Q;ENSP00000347995:R145Q;ENSP00000384164:R145Q	ENSP00000347076:R145Q	R	-	2	0	KIF16B	16441483	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	7.482000	0.81143	2.739000	0.93911	0.655000	0.94253	CGA		0.483	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
CSRP2BP	57325	broad.mit.edu	37	20	18142572	18142572	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:18142572G>A	ENST00000435364.3	+	5	1132	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.R263Q|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.R136Q	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	264					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.R264Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AAAAGGTCTCGAACTCAGGAA	0.453																																					p.R264Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G791A	20						.						124.0	144.0	137.0					20																	18142572		2203	4300	6503	18090572	SO:0001583	missense	57325	exon5			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.791G>A	20.37:g.18142572G>A	ENSP00000392318:p.Arg264Gln		18090572	NM_020536	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563785	0.86335	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.15952	2.38;2.38;2.38;2.39	5.84	5.84	0.93424	.	0.188137	0.47852	D	0.000211	T	0.27765	0.0683	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.995	P;P	0.58266	0.836;0.559	T	0.00405	-1.1760	10	0.25106	T	0.35	-6.7325	20.563	0.99327	0.0:0.0:1.0:0.0	.	136;264	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	Q	264;263;264;136	ENSP00000278816:R264Q;ENSP00000366909:R263Q;ENSP00000392318:R264Q;ENSP00000425909:R136Q	ENSP00000278816:R264Q	R	+	2	0	CSRP2BP	18090572	1.000000	0.71417	0.956000	0.39512	0.982000	0.71751	9.071000	0.93980	2.937000	0.99478	0.650000	0.86243	CGA		0.453	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536	
CSRP2BP	57325	broad.mit.edu	37	20	18165371	18165371	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:18165371C>A	ENST00000435364.3	+	9	2451	c.2110C>A	c.(2110-2112)Ctg>Atg	p.L704M	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.L703M|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.L576M	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	704	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)	p.L704M(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CATTTCATTTCTGTTCGTCCA	0.378																																					p.L704M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2110A	20						.						210.0	176.0	188.0					20																	18165371		2203	4300	6503	18113371	SO:0001583	missense	57325	exon9			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2110C>A	20.37:g.18165371C>A	ENSP00000392318:p.Leu704Met		18113371	NM_020536	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365066	0.61513	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.99	5.05	0.67936	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.076681	0.56097	D	0.000034	T	0.54951	0.1890	L	0.42487	1.325	0.58432	D	0.999998	P;P	0.45902	0.84;0.868	P;P	0.59643	0.724;0.861	T	0.50668	-0.8801	10	0.30854	T	0.27	-11.1321	11.143	0.48413	0.0:0.8605:0.0:0.1395	.	576;704	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	M	704;703;704;576	ENSP00000278816:L704M;ENSP00000366909:L703M;ENSP00000392318:L704M;ENSP00000425909:L576M	ENSP00000278816:L704M	L	+	1	2	CSRP2BP	18113371	1.000000	0.71417	0.956000	0.39512	0.958000	0.62258	4.022000	0.57203	1.540000	0.49301	0.655000	0.94253	CTG		0.378	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536	
ZNF133	7692	broad.mit.edu	37	20	18295739	18295739	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:18295739G>A	ENST00000316358.4	+	4	341	c.244G>A	c.(244-246)Gat>Aat	p.D82N	ZNF133_ENST00000535822.1_5'UTR|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000402618.2_Missense_Mutation_p.D19N|ZNF133_ENST00000538547.1_5'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.D85N|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000377671.3_Missense_Mutation_p.D81N|ZNF133_ENST00000401790.1_Missense_Mutation_p.D82N	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	82					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D81N(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCTCTACCTCGATCCTTTCTG	0.532																																					p.D81N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G241A	20						.						91.0	86.0	88.0					20																	18295739		2203	4300	6503	18243739	SO:0001583	missense	7692	exon7			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.244G>A	20.37:g.18295739G>A	ENSP00000346090:p.Asp82Asn		18243739	NM_003434	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37		.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158649	0.01686	.	.	ENSG00000125846	ENST00000377671;ENST00000360010;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000434018;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T;T	0.06449	3.47;5.59;3.43;3.3;3.43;5.67;3.43;5.67	3.98	0.685	0.18009	.	0.393098	0.22175	N	0.063593	T	0.03608	0.0103	L	0.29908	0.895	0.20307	N	0.999916	B;B;B;B	0.29671	0.254;0.089;0.089;0.145	B;B;B;B	0.24006	0.011;0.023;0.023;0.05	T	0.45440	-0.9261	10	0.15952	T	0.53	2.0943	5.492	0.16781	0.1362:0.0:0.5448:0.319	.	19;85;82;81	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	N	81;96;85;19;82;82;82;82	ENSP00000366899:D81N;ENSP00000353105:D96N;ENSP00000400897:D85N;ENSP00000385279:D19N;ENSP00000383945:D82N;ENSP00000403835:D82N;ENSP00000346090:D82N;ENSP00000406638:D82N	ENSP00000346090:D82N	D	+	1	0	ZNF133	18243739	0.001000	0.12720	0.026000	0.17262	0.050000	0.14768	-0.465000	0.06680	0.129000	0.18514	0.561000	0.74099	GAT		0.532	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434	
RBBP9	10741	broad.mit.edu	37	20	18470541	18470541	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:18470541C>G	ENST00000337227.4	-	5	503	c.428G>C	c.(427-429)tGg>tCg	p.W143S	RBBP9_ENST00000493184.1_5'UTR	NM_006606.2	NP_006597.2	O75884	RBBP9_HUMAN	retinoblastoma binding protein 9	143					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						TTGTTCCTTCCAGGGAAGGAA	0.493																																					p.W143S												.	.	0			c.G428C	20						.						83.0	83.0	83.0					20																	18470541		2203	4300	6503	18418541	SO:0001583	missense	10741	exon5			AF039564	CCDS13136.1	20p11.2	2008-08-01	2001-11-28		ENSG00000089050	ENSG00000089050			9892	protein-coding gene	gene with protein product		602908	"""retinoblastoma-binding protein 9"""			9697699, 10449909	Standard	NM_006606		Approved	Bog	uc002wqy.3	O75884	OTTHUMG00000031972	ENST00000337227.4:c.428G>C	20.37:g.18470541C>G	ENSP00000336866:p.Trp143Ser		18418541	NM_006606	D3DW31|Q5JPH9|Q9H1D8	Missense_Mutation	SNP	ENST00000337227.4	37	CCDS13136.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793842	0.70452	.	.	ENSG00000089050	ENST00000337227;ENST00000339848	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.73678	-0.3907	9	0.21014	T	0.42	-8.395	15.7934	0.78384	0.0:1.0:0.0:0.0	.	143	O75884	RBBP9_HUMAN	S	143	.	ENSP00000336866:W143S	W	-	2	0	RBBP9	18418541	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.510000	0.67018	2.599000	0.87857	0.655000	0.94253	TGG		0.493	RBBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078175.1	NM_006606	
DTD1	92675	broad.mit.edu	37	20	18576815	18576815	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:18576815G>A	ENST00000377452.3	+	3	480	c.300G>A	c.(298-300)gaG>gaA	p.E100E	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	100					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.E100E(2)		large_intestine(4)|lung(1)|ovary(2)	7						TGCCCACGGAGCAGGCAGAGG	0.527																																					p.E100E												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.G300A	20						.						80.0	70.0	73.0					20																	18576815		2203	4300	6503	18524815	SO:0001819	synonymous_variant	92675	exon3			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.300G>A	20.37:g.18576815G>A			18524815	NM_080820	A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	ENST00000377452.3	37	CCDS13138.1																																																																																				0.527	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820	
CFAP61	26074	broad.mit.edu	37	20	20056250	20056250	+	Missense_Mutation	SNP	G	G	A	rs200143211		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:20056250G>A	ENST00000245957.5	+	6	633	c.557G>A	c.(556-558)cGc>cAc	p.R186H	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.R186H|C20orf26_ENST00000451767.2_Missense_Mutation_p.R186H|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		186								p.R186H(1)		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)		CTGCACGTTCGCAAAGCCAGG	0.478																																					p.R186H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557A	20						.						139.0	129.0	132.0					20																	20056250		2203	4300	6503	20004250	SO:0001583	missense	26074	exon6																														ENST00000245957.5:c.557G>A	20.37:g.20056250G>A	ENSP00000245957:p.Arg186His		20004250	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468518	0.63625	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000451767;ENST00000472660	T;T;T;T;T;T	0.60920	1.1;0.15;1.1;1.1;1.1;0.15	5.9	5.9	0.94986	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.997	T	0.78748	-0.2083	10	0.87932	D	0	.	15.7627	0.78101	0.0:0.0:1.0:0.0	.	186;186;140;186	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	H	140;186;186;186;186;186;186;82	ENSP00000345553:R140H;ENSP00000245957:R186H;ENSP00000366521:R186H;ENSP00000366518:R186H;ENSP00000414537:R186H;ENSP00000420498:R82H	ENSP00000245957:R186H	R	+	2	0	C20orf26	20004250	1.000000	0.71417	0.435000	0.26784	0.167000	0.22549	5.627000	0.67784	2.802000	0.96397	0.650000	0.86243	CGC		0.478	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
CFAP61	26074	broad.mit.edu	37	20	20278871	20278871	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:20278871G>A	ENST00000245957.5	+	25	3339	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1088								p.R1088Q(3)|p.R1088P(1)		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)		ACTTACTTCCGAATTCATATT	0.458																																					p.R1088Q												.	.	4	Substitution - Missense(4)	large_intestine(3)|lung(1)	c.G3263A	20						.						78.0	75.0	76.0					20																	20278871		2203	4300	6503	20226871	SO:0001583	missense	26074	exon25																														ENST00000245957.5:c.3263G>A	20.37:g.20278871G>A	ENSP00000245957:p.Arg1088Gln		20226871	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678484	0.88542	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.47528	0.84	5.27	5.27	0.74061	.	0.300219	0.31922	N	0.006857	T	0.61211	0.2329	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	P	0.51701	0.677	T	0.65784	-0.6084	10	0.62326	D	0.03	.	19.2438	0.93893	0.0:0.0:1.0:0.0	.	1088	Q8NHU2	CT026_HUMAN	Q	1028;1054;1088	ENSP00000245957:R1088Q	ENSP00000245957:R1088Q	R	+	2	0	C20orf26	20226871	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	6.069000	0.71209	2.628000	0.89032	0.655000	0.94253	CGA		0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
RALGAPA2	57186	broad.mit.edu	37	20	20620527	20620527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:20620527C>A	ENST00000202677.7	-	7	575	c.568G>T	c.(568-570)Gaa>Taa	p.E190*		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	190					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.E190*(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGAGTGATTTCTTCTGGATAT	0.353																																					p.E190X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G568T	20						.						105.0	99.0	100.0					20																	20620527		1814	4089	5903	20568527	SO:0001587	stop_gained	57186	exon7			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.568G>T	20.37:g.20620527C>A	ENSP00000202677:p.Glu190*		20568527	NM_020343	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Nonsense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	38|38|38	7.284168|7.284168|7.284168	0.98186|0.98186|0.98186	.|.|.	.|.|.	ENSG00000188559|ENSG00000188559|ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161|ENST00000430436|ENST00000432524	.|.|.	.|.|.	.|.|.	5.68|5.68|5.68	5.68|5.68|5.68	0.88126|0.88126|0.88126	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|T	.|0.76528|0.76528	.|0.4000|0.4000	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.74609|0.74609	.|-0.3608|-0.3608	.|3|3	0.44086|.|.	T|.|.	0.13|.|.	.|.|.	19.4091|19.4091|19.4091	0.94662|0.94662|0.94662	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	190;42;42;190|6|41	.|.|.	ENSP00000202677:E190X|.|.	E|K|R	-|-|-	1|3|2	0|2|0	RALGAPA2|RALGAPA2|RALGAPA2	20568527|20568527|20568527	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.645000|0.645000|0.645000	0.38454|0.38454|0.38454	7.232000|7.232000|7.232000	0.78116|0.78116|0.78116	2.687000|2.687000|2.687000	0.91594|0.91594|0.91594	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAA|AAG|AGA		0.353	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
KIZ	55857	broad.mit.edu	37	20	21213426	21213426	+	RNA	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:21213426C>T	ENST00000457464.1	+	0	1435																											AAAATTGCTTCGGAAGCTAGT	0.428																																					p.R510W												.	.	0			c.C1528T	20						.						67.0	66.0	67.0					20																	21213426		1898	4135	6033	21161426			55857	exon10																															20.37:g.21213426C>T			21161426	NM_001163022		Missense_Mutation	SNP	ENST00000457464.1	37																																																																																					0.428	PLK1S1-003	KNOWN	not_organism_supported|sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000078262.2		
XRN2	22803	broad.mit.edu	37	20	21319706	21319706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:21319706G>T	ENST00000377191.3	+	14	1353	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	XRN2_ENST00000430571.2_Nonsense_Mutation_p.E344*|XRN2_ENST00000539513.1_Nonsense_Mutation_p.E366*	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	420					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)	p.E420*(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ACGACAGAAAGAAAAAAGAAA	0.294																																					p.E420X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1258T	20						.						97.0	111.0	106.0					20																	21319706		2203	4300	6503	21267706	SO:0001587	stop_gained	22803	exon14			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.1258G>T	20.37:g.21319706G>T	ENSP00000366396:p.Glu420*		21267706	NM_012255	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Nonsense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	38	7.018419	0.98006	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	.	.	.	4.85	4.85	0.62838	.	0.099931	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-21.9502	16.89	0.86084	0.0:0.0:1.0:0.0	.	.	.	.	X	420;344;366	.	ENSP00000366396:E420X	E	+	1	0	XRN2	21267706	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.427000	0.73378	2.416000	0.81992	0.655000	0.94253	GAA		0.294	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
DEFB125	245938	broad.mit.edu	37	20	76778	76778	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:76778A>G	ENST00000382410.2	+	2	191	c.191A>G	c.(190-192)tAt>tGt	p.Y64C	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	64					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.Y64C(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TCACATGAATATACTCGACGA	0.368																																					p.Y64C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A191G	20						.						189.0	177.0	181.0					20																	76778		2203	4300	6503	24778	SO:0001583	missense	245938	exon2			AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.191A>G	20.37:g.76778A>G	ENSP00000371847:p.Tyr64Cys		24778	NM_153325	A1A502|Q7Z7B9	Missense_Mutation	SNP	ENST00000382410.2	37	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	11.48	1.651828	0.29336	.	.	ENSG00000178591	ENST00000382410	T	0.10573	2.86	3.49	-6.18	0.02085	.	3.334350	0.00991	N	0.003526	T	0.10035	0.0246	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	P	0.52881	0.712	T	0.28586	-1.0039	10	0.72032	D	0.01	-0.0254	2.1412	0.03776	0.2119:0.1414:0.099:0.5477	.	64	Q8N687	DB125_HUMAN	C	64	ENSP00000371847:Y64C	ENSP00000371847:Y64C	Y	+	2	0	DEFB125	24778	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.154000	0.03166	-1.363000	0.02164	-0.336000	0.08194	TAT		0.368	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325	
CST1	1469	broad.mit.edu	37	20	23728511	23728511	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:23728511T>C	ENST00000304749.2	-	3	438	c.368A>G	c.(367-369)tAc>tGc	p.Y123C	CST1_ENST00000398402.1_Missense_Mutation_p.Y123C	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	123					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.Y123C(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GGGAACTTCGTAGATCTCGAA	0.527																																					p.Y123C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A368G	20						.						98.0	85.0	89.0					20																	23728511		2203	4300	6503	23676511	SO:0001583	missense	1469	exon3			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.368A>G	20.37:g.23728511T>C	ENSP00000305731:p.Tyr123Cys		23676511	NM_001898	Q96LE6|Q9UCQ6	Missense_Mutation	SNP	ENST00000304749.2	37	CCDS13160.1	.	.	.	.	.	.	.	.	.	.	T	8.137	0.784344	0.16189	.	.	ENSG00000170373	ENST00000304749;ENST00000398402	T;T	0.15718	2.4;2.4	1.64	0.49	0.16861	Proteinase inhibitor I25, cystatin (2);	0.395765	0.27280	U	0.020088	T	0.29620	0.0739	M	0.88450	2.955	0.09310	N	1	P	0.37207	0.587	P	0.47603	0.551	T	0.16394	-1.0404	10	0.52906	T	0.07	.	3.6392	0.08161	0.0:0.2136:0.0:0.7864	.	123	P01037	CYTN_HUMAN	C	123	ENSP00000305731:Y123C;ENSP00000381439:Y123C	ENSP00000305731:Y123C	Y	-	2	0	CST1	23676511	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.124000	0.15728	0.114000	0.18032	-0.956000	0.02647	TAC		0.527	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898	
NOP56	10528	broad.mit.edu	37	20	2636275	2636275	+	Silent	SNP	C	C	T	rs147425088	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:2636275C>T	ENST00000329276.5	+	7	1308	c.792C>T	c.(790-792)atC>atT	p.I264I	SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORA51_ENST00000606420.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD56_ENST00000413522.1_RNA|SNORD86_ENST00000391196.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	264					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.I264I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGATAAACATCGAGAGCTTCT	0.498																																					p.I264I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C792T	20						.	C		4,4402	8.1+/-20.4	0,4,2199	157.0	151.0	153.0		792	-0.6	1.0	20	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous	NOP56	NM_006392.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		264/595	2636275	4,13002	2203	4300	6503	2584275	SO:0001819	synonymous_variant	10528	exon7			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.792C>T	20.37:g.2636275C>T			2584275	NM_006392	Q2M3T6|Q9NQ05	Silent	SNP	ENST00000329276.5	37	CCDS13030.1	.	.	.	.	.	.	.	.	.	.	C	7.425	0.637467	0.14386	9.08E-4	0.0	ENSG00000101361	ENST00000415272	.	.	.	4.9	-0.592	0.11671	.	.	.	.	.	T	0.44008	0.1273	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	-15.8854	4.1248	0.10123	0.1696:0.339:0.0:0.4913	.	.	.	.	L	5	.	.	S	+	2	0	NOP56	2584275	0.809000	0.29036	0.998000	0.56505	0.992000	0.81027	-0.068000	0.11561	0.024000	0.15214	-0.258000	0.10820	TCG		0.498	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392	
CPXM1	56265	broad.mit.edu	37	20	2774888	2774888	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:2774888A>G	ENST00000380605.2	-	14	2217	c.2153T>C	c.(2152-2154)gTg>gCg	p.V718A		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	718					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTCCGGGGGCACCTTGGCCCC	0.627																																					p.V644A												.	.	0			c.T1931C	20						.						38.0	42.0	41.0					20																	2774888		2203	4300	6503	2722888	SO:0001583	missense	56265	exon14			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.2153T>C	20.37:g.2774888A>G	ENSP00000369979:p.Val718Ala		2722888	NM_001184699	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.630281	0.28978	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.15139	2.45	5.65	5.65	0.86999	Carboxypeptidase-like, regulatory domain (1);	0.773311	0.12303	N	0.480966	T	0.12390	0.0301	N	0.22421	0.69	0.32258	N	0.570506	B	0.27791	0.189	B	0.27380	0.079	T	0.07083	-1.0791	10	0.08179	T	0.78	-2.1354	14.1163	0.65156	1.0:0.0:0.0:0.0	.	718	Q96SM3	CPXM1_HUMAN	A	718;414	ENSP00000369979:V718A	ENSP00000369979:V718A	V	-	2	0	CPXM1	2722888	1.000000	0.71417	0.945000	0.38365	0.859000	0.49053	8.045000	0.89436	2.279000	0.76181	0.533000	0.62120	GTG		0.627	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
VPS16	64601	broad.mit.edu	37	20	2845219	2845219	+	Silent	SNP	G	G	A	rs147342829		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:2845219G>A	ENST00000380445.3	+	19	1917	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	VPS16_ENST00000380443.3_Silent_p.T301T|VPS16_ENST00000380469.3_Silent_p.T471T|PTPRA_ENST00000380393.3_De_novo_Start_OutOfFrame	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	615					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.T615T(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCTAGAGACGCTGAAGGACC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17731	0.0		0.0	False		,,,				2504	0.0				p.T471T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1413A	20						.	G	,,	5,4401	9.9+/-24.2	0,5,2198	196.0	191.0	193.0		,1845,1413	-9.0	0.7	20	dbSNP_134	193	0,8600		0,0,4300	no	utr-5,coding-synonymous,coding-synonymous	PTPRA,VPS16	NM_002836.3,NM_022575.2,NM_080413.1	,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,	,615/840,471/696	2845219	5,13001	2203	4300	6503	2793219	SO:0001819	synonymous_variant	64601	exon15			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1845G>A	20.37:g.2845219G>A			2793219	NM_080413	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	CCDS13036.1																																																																																				0.547	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575	
NINL	22981	broad.mit.edu	37	20	25472121	25472121	+	Missense_Mutation	SNP	G	G	A	rs375539708		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:25472121G>A	ENST00000278886.6	-	11	1424	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	NINL_ENST00000422516.1_Missense_Mutation_p.R451W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	451					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R451W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCTCAGACCGCAGGAGGCTC	0.662																																					p.R451W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1351T	20						.						82.0	78.0	79.0					20																	25472121		2203	4300	6503	25420121	SO:0001583	missense	22981	exon11				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1351C>T	20.37:g.25472121G>A	ENSP00000278886:p.Arg451Trp		25420121	NM_025176	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619779	0.66787	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.34472	1.58;1.36	4.6	3.64	0.41730	.	0.000000	0.64402	D	0.000003	T	0.55705	0.1937	M	0.69823	2.125	0.43617	D	0.995999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.58137	-0.7689	10	0.72032	D	0.01	-32.5617	9.993	0.41883	0.0:0.0:0.7984:0.2016	.	451;451	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	W	451	ENSP00000278886:R451W;ENSP00000410431:R451W	ENSP00000278886:R451W	R	-	1	2	NINL	25420121	0.127000	0.22367	0.998000	0.56505	0.763000	0.43281	0.826000	0.27407	1.150000	0.42419	0.306000	0.20318	CGG		0.662	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
DEFB119	245932	broad.mit.edu	37	20	29965236	29965236	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:29965236C>T	ENST00000376321.3	-	2	187	c.68G>A	c.(67-69)cGc>cAc	p.R23H	DEFB119_ENST00000339144.3_Silent_p.T36T|SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000492344.1_5'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	23					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.T36T(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGATGTGGCGTTTGCCTGC	0.433																																					p.R23H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G68A	20						.						135.0	127.0	130.0					20																	29965236		2203	4300	6503	29428897	SO:0001583	missense	245932	exon2			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.68G>A	20.37:g.29965236C>T	ENSP00000365499:p.Arg23His		29428897	NM_153289	Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	4.463	0.085801	0.08583	.	.	ENSG00000180483	ENST00000376321	T	0.29917	1.55	4.23	-5.42	0.02640	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.26503	-1.0101	8	0.27082	T	0.32	.	7.9032	0.29746	0.0:0.1838:0.1351:0.681	.	23	Q8N690	DB119_HUMAN	H	23	ENSP00000365499:R23H	ENSP00000365499:R23H	R	-	2	0	DEFB119	29428897	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.238000	0.01199	-1.088000	0.03077	-0.136000	0.14681	CGC		0.433	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289	
DEFB121	245934	broad.mit.edu	37	20	29992830	29992830	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:29992830T>G	ENST00000376314.2	-	2	230	c.117A>C	c.(115-117)gtA>gtC	p.V39V	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	39					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.V39V(1)		large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATATATAGTATACTTCACTTT	0.373																																					p.V39V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A117C	20						.						198.0	185.0	189.0					20																	29992830		2203	4300	6503	29456491	SO:0001819	synonymous_variant	245934	exon2			AI476463	CCDS33456.1	20q11.1	2008-07-17			ENSG00000204548	ENSG00000204548		"""Defensins, beta"""	18101	protein-coding gene	gene with protein product	"""defensin, beta 21"""					11854508	Standard	NM_001011878		Approved	DEFB-21	uc021wbq.1	Q5J5C9	OTTHUMG00000032171	ENST00000376314.2:c.117A>C	20.37:g.29992830T>G			29456491	NM_001011878	A1L4N1	Silent	SNP	ENST00000376314.2	37	CCDS33456.1																																																																																				0.373	DEFB121-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354404.1	NM_001011878	
TPX2	22974	broad.mit.edu	37	20	30358206	30358206	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:30358206A>C	ENST00000300403.6	+	6	945	c.417A>C	c.(415-417)aaA>aaC	p.K139N	TPX2_ENST00000340513.4_Missense_Mutation_p.K139N	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	139					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.K139N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATCATGTAAAAATGAAAGCCA	0.358																																					p.K139N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A417C	20						.						88.0	90.0	89.0					20																	30358206		2203	4300	6503	29821867	SO:0001583	missense	22974	exon6			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.417A>C	20.37:g.30358206A>C	ENSP00000300403:p.Lys139Asn		29821867	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	A	10.32	1.318084	0.23994	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.35605	1.3	5.39	1.72	0.24424	.	0.331298	0.29133	N	0.013052	T	0.20941	0.0504	N	0.14661	0.345	0.20196	N	0.999923	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.17410	-1.0370	10	0.51188	T	0.08	-1.0E-4	10.8238	0.46620	0.5193:0.4807:0.0:0.0	.	139;139	Q96RR5;Q9ULW0	.;TPX2_HUMAN	N	139	ENSP00000341145:K139N	ENSP00000300403:K139N	K	+	3	2	TPX2	29821867	0.949000	0.32298	0.130000	0.21974	0.564000	0.35744	1.082000	0.30803	0.092000	0.17331	-0.313000	0.08912	AAA		0.358	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
TPX2	22974	broad.mit.edu	37	20	30381810	30381810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:30381810G>T	ENST00000300403.6	+	14	2197	c.1669G>T	c.(1669-1671)Gaa>Taa	p.E557*	TPX2_ENST00000340513.4_Nonsense_Mutation_p.E593*	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	557					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.E557*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAAAATAAAAGAACTGCAGAA	0.393																																					p.E557X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1669T	20						.						102.0	102.0	102.0					20																	30381810		2203	4300	6503	29845471	SO:0001587	stop_gained	22974	exon14			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1669G>T	20.37:g.30381810G>T	ENSP00000300403:p.Glu557*		29845471	NM_012112	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Nonsense_Mutation	SNP	ENST00000300403.6	37	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	43	10.107301	0.99338	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	.	.	.	5.82	5.82	0.92795	.	0.106561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-21.2174	19.0872	0.93209	0.0:0.0:1.0:0.0	.	.	.	.	X	557;593	.	ENSP00000300403:E557X	E	+	1	0	TPX2	29845471	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.825000	0.75293	2.752000	0.94435	0.655000	0.94253	GAA		0.393	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2		
TTLL9	164395	broad.mit.edu	37	20	30525260	30525260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:30525260C>T	ENST00000375938.4	+	13	1319	c.1066C>T	c.(1066-1068)Ctc>Ttc	p.L356F	TTLL9_ENST00000535842.1_Missense_Mutation_p.L356F|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375922.4_Missense_Mutation_p.L298F|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000310998.4_Missense_Mutation_p.L321F			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	356	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.L345F(1)|p.L356F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGACTATGAGCTCAAGACCTG	0.562																																					p.L356F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1066T	20						.						78.0	83.0	82.0					20																	30525260		2116	4233	6349	29988921	SO:0001583	missense	164395	exon13			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1066C>T	20.37:g.30525260C>T	ENSP00000365105:p.Leu356Phe		29988921	NM_001008409	A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315903	0.81469	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375935;ENST00000375922	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	5.91	5.91	0.95273	.	0.059785	0.64402	D	0.000002	T	0.43055	0.1230	M	0.91196	3.185	0.80722	D	1	D;D	0.69078	0.997;0.965	D;P	0.76575	0.988;0.861	T	0.47873	-0.9083	10	0.59425	D	0.04	.	17.0178	0.86424	0.0:1.0:0.0:0.0	.	356;258	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	F	356;356;321;345;298	ENSP00000365105:L356F;ENSP00000442515:L356F;ENSP00000308980:L321F;ENSP00000365088:L298F	ENSP00000308980:L321F	L	+	1	0	TTLL9	29988921	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.941000	0.56607	2.793000	0.96121	0.655000	0.94253	CTC		0.562	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409	
CCM2L	140706	broad.mit.edu	37	20	30616834	30616834	+	Silent	SNP	C	C	T	rs139147006	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:30616834C>T	ENST00000300415.8	+	8	1183	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	CCM2L_ENST00000262659.8_Missense_Mutation_p.A369V|RP1-310O13.7_ENST00000449519.1_RNA			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	390								p.A369V(1)|p.A369G(1)|p.S390R(1)|p.S390S(1)									CATGTTACAGCGGCACGTCCA	0.602																																					p.A369V												.	.	4	Substitution - Missense(3)|Substitution - coding silent(1)	large_intestine(2)|lung(2)	c.C1106T	20						.	C	VAL/ALA	0,4406		0,0,2203	161.0	137.0	145.0		1106	-8.2	0.7	20	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	missense	C20orf160	NM_080625.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	369/434	30616834	1,13005	2203	4300	6503	30080495	SO:0001819	synonymous_variant	140706	exon7			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.1170C>T	20.37:g.30616834C>T			30080495	NM_080625	Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37		.	.	.	.	.	.	.	.	.	.	C	11.11	1.541031	0.27563	0.0	1.16E-4	ENSG00000101331	ENST00000262659	T	0.62788	0.0	5.21	-8.24	0.01029	.	.	.	.	.	T	0.49490	0.1560	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.06862	-1.0803	8	0.37606	T	0.19	-6.633	18.114	0.89545	0.0:0.184:0.0:0.816	.	369	Q9NUG4-2	.	V	369	ENSP00000262659:A369V	ENSP00000262659:A369V	A	+	2	0	C20orf160	30080495	0.024000	0.19004	0.708000	0.30435	0.925000	0.55904	-1.179000	0.03090	-1.663000	0.01481	-0.448000	0.05591	GCG		0.602	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625	
BPIFB6	128859	broad.mit.edu	37	20	31620812	31620812	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:31620812G>A	ENST00000349552.1	+	2	120	c.120G>A	c.(118-120)gaG>gaA	p.E40E		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	40						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.E40E(1)									CCATGGATGAGAGTCATATCC	0.552																																					p.E40E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G120A	20						.						102.0	95.0	97.0					20																	31620812		2203	4300	6503	31084473	SO:0001819	synonymous_variant	128859	exon2			AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.120G>A	20.37:g.31620812G>A			31084473	NM_174897		Silent	SNP	ENST00000349552.1	37	CCDS13211.1																																																																																				0.552	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897	
BPIFB3	359710	broad.mit.edu	37	20	31657744	31657744	+	Silent	SNP	C	C	A	rs142822628		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:31657744C>A	ENST00000375494.3	+	11	1200	c.1200C>A	c.(1198-1200)atC>atA	p.I400I		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	400					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.I400I(1)									AGCTGCACATCTCCCTGTCCC	0.567																																					p.I400I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1200A	20						.						205.0	183.0	190.0					20																	31657744		2203	4300	6503	31121405	SO:0001819	synonymous_variant	359710	exon11			AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1200C>A	20.37:g.31657744C>A			31121405	NM_182658	Q5TDX7	Silent	SNP	ENST00000375494.3	37	CCDS13212.1																																																																																				0.567	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658	
BPIFB1	92747	broad.mit.edu	37	20	31879774	31879774	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:31879774C>A	ENST00000253354.1	+	6	738	c.577C>A	c.(577-579)Ccc>Acc	p.P193T		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	193					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.P193T(1)									GCCATCCCTGCCCAATCTAGT	0.557											OREG0025868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P193T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577A	20						.						154.0	126.0	136.0					20																	31879774		2203	4300	6503	31343435	SO:0001583	missense	92747	exon6			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.577C>A	20.37:g.31879774C>A	ENSP00000253354:p.Pro193Thr	828	31343435	NM_033197	A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517553	0.44763	.	.	ENSG00000125999	ENST00000253354	T	0.04360	3.64	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000006	T	0.20536	0.0494	M	0.80847	2.515	0.38470	D	0.947431	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02437	-1.1159	10	0.25106	T	0.35	-35.2127	13.8188	0.63308	0.0:1.0:0.0:0.0	.	193;193	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	T	193	ENSP00000253354:P193T	ENSP00000253354:P193T	P	+	1	0	BPIFB1	31343435	1.000000	0.71417	0.995000	0.50966	0.021000	0.10359	3.256000	0.51492	2.629000	0.89072	0.561000	0.74099	CCC		0.557	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197	
CHMP4B	128866	broad.mit.edu	37	20	32438839	32438839	+	Silent	SNP	G	G	A	rs146262818	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:32438839G>A	ENST00000217402.2	+	3	615	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	150					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.S150S(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						CAGCAATTTCGAAACCTGTAG	0.438													g|||	2	0.000399361	0.0008	0.0014	5008	,	,		21217	0.0		0.0	False		,,,				2504	0.0				p.S150S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G450A	20						.	G		1,4405	2.1+/-5.4	0,1,2202	120.0	111.0	114.0		450	-2.3	1.0	20	dbSNP_134	114	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	CHMP4B	NM_176812.4		0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384		150/225	32438839	5,13001	2203	4300	6503	31902500	SO:0001819	synonymous_variant	128866	exon3			AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.450G>A	20.37:g.32438839G>A			31902500	NM_176812	E1P5N4|Q53ZD6	Silent	SNP	ENST00000217402.2	37	CCDS13228.1																																																																																				0.438	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2		
C20orf194	25943	broad.mit.edu	37	20	3311307	3311307	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:3311307C>T	ENST00000252032.9	-	12	1153	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	C20orf194_ENST00000453730.2_Silent_p.K101K	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	362								p.K362K(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GTTCAGTTTTCTTGGGCAGCT	0.388																																					p.K362K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1086A	20						.						67.0	64.0	65.0					20																	3311307		1886	4125	6011	3259307	SO:0001819	synonymous_variant	25943	exon12			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1086G>A	20.37:g.3311307C>T			3259307	NM_001009984	Q66K86|Q6P2R9|Q9UFX9	Silent	SNP	ENST00000252032.9	37	CCDS42851.1																																																																																				0.388	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	
DYNLRB1	83658	broad.mit.edu	37	20	33122566	33122566	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:33122566C>T	ENST00000357156.2	+	3	264	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	DYNLRB1_ENST00000417166.2_Missense_Mutation_p.R72C|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.R124C	NM_001281727.1|NM_001281728.1|NM_014183.2|NM_177953.2	NP_001268656.1|NP_001268657.1|NP_054902.1|NP_808852.1	Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	72					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|transport (GO:0006810)|visual behavior (GO:0007632)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)	p.R72C(1)		endometrium(1)|large_intestine(1)|lung(1)	3						CCTTCGAATTCGCTCCAAGAA	0.527																																					p.R72C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C214T	20						.						103.0	84.0	91.0					20																	33122566		2203	4300	6503	32586227	SO:0001583	missense	83658	exon3			AF132750	CCDS13235.1	20q11.21	2008-01-18	2005-11-25	2005-11-25	ENSG00000125971	ENSG00000125971		"""Cytoplasmic dyneins"""	15468	protein-coding gene	gene with protein product	"""roadblock domain containing 1"""	607167	"""dynein, cytoplasmic, light polypeptide 2A"""	DNCL2A		11750132, 16260502	Standard	NM_177953		Approved	DNLC2A, ROBLD1	uc002xal.3	Q9NP97	OTTHUMG00000032302	ENST00000357156.2:c.214C>T	20.37:g.33122566C>T	ENSP00000349679:p.Arg72Cys		32586227	NM_014183	B1AKR5|Q5TC72|Q96IV3|Q9NQM2	Missense_Mutation	SNP	ENST00000357156.2	37	CCDS13235.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.648437	0.87958	.	.	ENSG00000125971	ENST00000357156;ENST00000417166;ENST00000374846	T;T;T	0.34859	1.34;1.34;1.34	5.06	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	.	.	.	0.80722	D	1	D;D	0.69078	0.997;0.982	D;P	0.63113	0.911;0.803	T	0.61778	-0.6993	9	0.87932	D	0	-9.0125	12.5373	0.56147	0.3026:0.6974:0.0:0.0	.	72;72	B4DFR2;Q9NP97	.;DLRB1_HUMAN	C	72;72;124	ENSP00000349679:R72C;ENSP00000409090:R72C;ENSP00000363979:R124C	ENSP00000349679:R72C	R	+	1	0	DYNLRB1	32586227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.760000	0.68793	1.351000	0.45789	0.655000	0.94253	CGC		0.527	DYNLRB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078791.1	NM_014183	
NCOA6	23054	broad.mit.edu	37	20	33303143	33303143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:33303143G>A	ENST00000374796.2	-	16	8745	c.6175C>T	c.(6175-6177)Cga>Tga	p.R2059*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.R2059*|NCOA6_ENST00000593786.1_5'Flank			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2059	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.R2059*(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GATTTTCTTCGCTTGGATTGC	0.413																																					p.R2059X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6175T	20						.						215.0	193.0	200.0					20																	33303143		2203	4300	6503	32766804	SO:0001587	stop_gained	23054	exon15			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.6175C>T	20.37:g.33303143G>A	ENSP00000363929:p.Arg2059*		32766804	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	58	30.321730	0.99977	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	6.02	2.86	0.33363	.	0.283085	0.25244	N	0.032068	.	.	.	.	.	.	0.27517	N	0.951504	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.4495	7.5364	0.27712	0.0772:0.0:0.5181:0.4047	.	.	.	.	X	2059	.	ENSP00000351894:R2059X	R	-	1	2	NCOA6	32766804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.751000	0.47508	0.871000	0.35750	0.650000	0.86243	CGA		0.413	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
NCOA6	23054	broad.mit.edu	37	20	33315155	33315155	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:33315155C>T	ENST00000374796.2	-	15	8626	c.6056G>A	c.(6055-6057)cGa>cAa	p.R2019Q	NCOA6_ENST00000359003.2_Missense_Mutation_p.R2019Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	2019	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.R2019Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CTCTTCAGTTCGGGAGTTTCT	0.488																																					p.R2019Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6056A	20						.						161.0	148.0	152.0					20																	33315155		2203	4300	6503	32778816	SO:0001583	missense	23054	exon14			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.6056G>A	20.37:g.33315155C>T	ENSP00000363929:p.Arg2019Gln		32778816	NM_014071	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324299	0.95708	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.36699	1.24;1.24	4.88	4.88	0.63580	.	0.117992	0.37483	N	0.002071	T	0.45357	0.1338	N	0.24115	0.695	0.50632	D	0.999888	D	0.69078	0.997	D	0.70227	0.968	T	0.38802	-0.9644	10	0.44086	T	0.13	-2.2574	15.9934	0.80223	0.0:1.0:0.0:0.0	.	2019	Q14686	NCOA6_HUMAN	Q	2019	ENSP00000363929:R2019Q;ENSP00000351894:R2019Q	ENSP00000351894:R2019Q	R	-	2	0	NCOA6	32778816	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.168000	0.58216	2.537000	0.85549	0.561000	0.74099	CGA		0.488	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
ACSS2	55902	broad.mit.edu	37	20	33470747	33470747	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:33470747G>A	ENST00000360596.2	+	2	540	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000253382.5_Missense_Mutation_p.R110Q|ACSS2_ENST00000336325.4_Missense_Mutation_p.R60Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	110					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.R110Q(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTACTGGATCGAAATGTCCAT	0.368																																					p.R110Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G329A	20						.						107.0	100.0	102.0					20																	33470747		2203	4300	6503	32934408	SO:0001583	missense	55902	exon2			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.329G>A	20.37:g.33470747G>A	ENSP00000353804:p.Arg110Gln		32934408	NM_018677	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554056	0.96501	.	.	ENSG00000131069	ENST00000488172;ENST00000336325;ENST00000360596;ENST00000374693;ENST00000484354;ENST00000493805;ENST00000473172;ENST00000253382	T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.97	5.97	0.96955	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	0.988;1.0;0.988	P;D;P	0.79108	0.746;0.992;0.746	T	0.81037	-0.1114	10	0.87932	D	0	-16.8786	19.1953	0.93686	0.0:0.0:1.0:0.0	.	110;110;110	Q5QPH3;B4DEH9;Q9NR19	.;.;ACSA_HUMAN	Q	60;60;110;110;102;110;110;110	ENSP00000417783:R60Q;ENSP00000337190:R60Q;ENSP00000353804:R110Q;ENSP00000419167:R102Q;ENSP00000418812:R110Q;ENSP00000419925:R110Q;ENSP00000253382:R110Q	ENSP00000253382:R110Q	R	+	2	0	ACSS2	32934408	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.412000	0.97347	2.834000	0.97654	0.650000	0.86243	CGA		0.368	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3	NM_018677	
GSS	2937	broad.mit.edu	37	20	33519831	33519831	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:33519831G>A	ENST00000216951.2	-	10	1038	c.940C>T	c.(940-942)Ccg>Tcg	p.P314S	GSS_ENST00000451957.2_Missense_Mutation_p.P203S|GSS_ENST00000541098.1_Missense_Mutation_p.P186S	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	314					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.P314S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	AGCATGCCCGGCCTGCTTAGC	0.627																																					p.P314S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C940T	20						.						79.0	75.0	76.0					20																	33519831		2203	4300	6503	32983492	SO:0001583	missense	2937	exon10				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.940C>T	20.37:g.33519831G>A	ENSP00000216951:p.Pro314Ser		32983492	NM_000178	B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772678	0.49680	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.90788	-2.73;-2.73;-2.73	5.5	-0.93	0.10441	Glutathione synthase, alpha-helical, eukaryotic (1);	0.562524	0.20966	N	0.082466	D	0.89354	0.6691	M	0.85710	2.77	0.43930	D	0.996589	B;P	0.34699	0.201;0.464	B;B	0.39738	0.209;0.308	D	0.83520	0.0085	10	0.72032	D	0.01	1.8534	3.6106	0.08058	0.0978:0.2238:0.472:0.2064	.	203;314	B6F210;P48637	.;GSHB_HUMAN	S	314;186;203	ENSP00000216951:P314S;ENSP00000439744:P186S;ENSP00000407517:P203S	ENSP00000216951:P314S	P	-	1	0	GSS	32983492	0.832000	0.29368	0.118000	0.21660	0.953000	0.61014	2.957000	0.49137	-0.056000	0.13221	-0.153000	0.13522	CCG		0.627	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2		
MYL9	10398	broad.mit.edu	37	20	35173356	35173356	+	Silent	SNP	C	C	T	rs199568309		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:35173356C>T	ENST00000279022.2	+	2	173	c.69C>T	c.(67-69)ttC>ttT	p.F23F	MYL9_ENST00000346786.2_Silent_p.F23F|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	23					axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.F23F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAATGTCTTCGCAATGTTTG	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16749	0.0		0.0	False		,,,				2504	0.0				p.F23F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C69T	20						.						116.0	96.0	102.0					20																	35173356		2203	4300	6503	34606770	SO:0001819	synonymous_variant	10398	exon2			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.69C>T	20.37:g.35173356C>T			34606770	NM_006097	E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	ENST00000279022.2	37	CCDS13276.1																																																																																				0.552	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097	
NDRG3	57446	broad.mit.edu	37	20	35293702	35293702	+	Missense_Mutation	SNP	C	C	T	rs199601205		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:35293702C>T	ENST00000349004.1	-	11	776	c.695G>A	c.(694-696)cGc>cAc	p.R232H	NDRG3_ENST00000373803.2_Missense_Mutation_p.R232H|NDRG3_ENST00000540765.1_Missense_Mutation_p.R128H|NDRG3_ENST00000359675.2_Missense_Mutation_p.R220H|NDRG3_ENST00000373773.3_Missense_Mutation_p.R137H	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	232					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R232H(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CAGGTCTCTGCGTCTAGAAAA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		22222	0.0		0.001	False		,,,				2504	0.0				p.R232H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G695A	20						.	C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	171.0	175.0	174.0		659,695	3.9	1.0	20		174	0,8600		0,0,4300	no	missense,missense	NDRG3	NM_022477.3,NM_032013.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	220/364,232/376	35293702	1,13005	2203	4300	6503	34727116	SO:0001583	missense	57446	exon11			AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.695G>A	20.37:g.35293702C>T	ENSP00000345292:p.Arg232His		34727116	NM_032013	A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	CCDS13285.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	22.6	4.316933	0.81469	2.27E-4	0.0	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	4.87	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75679	-0.3234	10	0.87932	D	0	.	11.234	0.48929	0.0:0.9103:0.0:0.0897	.	137;220;232	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	H	232;232;220;137;128	ENSP00000345292:R232H;ENSP00000362909:R232H;ENSP00000352703:R220H;ENSP00000362878:R137H;ENSP00000442813:R128H	ENSP00000345292:R232H	R	-	2	0	NDRG3	34727116	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.856000	0.75450	1.413000	0.46997	0.555000	0.69702	CGC		0.388	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2		
RBL1	5933	broad.mit.edu	37	20	35675569	35675569	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:35675569G>T	ENST00000373664.3	-	12	1558	c.1492C>A	c.(1492-1494)Cat>Aat	p.H498N	RBL1_ENST00000344359.3_Missense_Mutation_p.H498N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	498	Domain A.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)	p.H498N(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AAGGAACGATGAAATATATCT	0.368																																					p.H498N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1492A	20						.						98.0	86.0	90.0					20																	35675569		2203	4300	6503	35108983	SO:0001583	missense	5933	exon12			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1492C>A	20.37:g.35675569G>T	ENSP00000362768:p.His498Asn		35108983	NM_002895	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675098	0.88445	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.89196	-2.48;-2.48	4.84	4.84	0.62591	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.105210	0.64402	D	0.000004	D	0.93396	0.7894	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.979;0.994	D	0.92811	0.6264	10	0.45353	T	0.12	-24.2723	18.4937	0.90856	0.0:0.0:1.0:0.0	.	498;498	P28749-2;P28749	.;RBL1_HUMAN	N	498	ENSP00000362768:H498N;ENSP00000343646:H498N	ENSP00000343646:H498N	H	-	1	0	RBL1	35108983	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	7.576000	0.82467	2.670000	0.90874	0.650000	0.86243	CAT		0.368	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
MROH8	140699	broad.mit.edu	37	20	35742486	35742486	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:35742486T>G	ENST00000400441.3	-	20	2597	c.2598A>C	c.(2596-2598)aaA>aaC	p.K866N	MROH8_ENST00000217333.8_Missense_Mutation_p.K695N|MROH8_ENST00000441008.2_Missense_Mutation_p.K852N			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	TATCTGGGTTTTTTACAGACT	0.458																																					p.K867Q												.	.	0			c.A2599C	20						.						98.0	93.0	95.0					20																	35742486		1862	4089	5951	35175900	SO:0001583	missense	140699	exon19			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2598A>C	20.37:g.35742486T>G	ENSP00000383291:p.Lys866Asn		35175900	NM_152503	Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	11.62|11.62|11.62	1.691745|1.691745|1.691745	0.30052|0.30052|0.30052	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000417458|ENST00000343811	T;T;T|T|T	0.66460|0.65178|0.65178	-0.21;1.45;-0.13|-0.14|-0.14	5.74|5.74|5.74	0.758|0.758|0.758	0.18432|0.18432|0.18432	.|.|.	0.230306|0.230306|0.230306	0.38778|0.38778|0.38778	N|N|N	0.001562|0.001562|0.001562	T|T|T	0.52386|0.52386|0.52386	0.1731|0.1731|0.1731	L|L|L	0.56769|0.56769|0.56769	1.78|1.78|1.78	0.22737|0.22737|0.22737	N|N|N	0.998796|0.998796|0.998796	D;D|.|.	0.89917|.|.	1.0;0.999|.|.	D;D|.|.	0.80764|.|.	0.991;0.994|.|.	T|T|T	0.39333|0.39333|0.39333	-0.9619|-0.9619|-0.9619	10|8|8	0.18710|0.17832|0.15499	T|T|T	0.47|0.49|0.54	-11.8539|-11.8539|-11.8539	4.7555|4.7555|4.7555	0.13082|0.13082|0.13082	0.0:0.2444:0.1512:0.6045|0.0:0.2444:0.1512:0.6045|0.0:0.2444:0.1512:0.6045	.|.|.	866;700|.|.	E7ETR9;Q9H579-2|.|.	.;.|.|.	N|Q|T	852;866;695|494|893	ENSP00000392144:K852N;ENSP00000383291:K866N;ENSP00000217333:K695N|ENSP00000415930:K494Q|ENSP00000339971:K893T	ENSP00000217333:K695N|ENSP00000415930:K494Q|ENSP00000339971:K893T	K|K|K	-|-|-	3|1|2	2|0|0	C20orf132|C20orf132|C20orf132	35175900|35175900|35175900	0.577000|0.577000|0.577000	0.26708|0.26708|0.26708	0.090000|0.090000|0.090000	0.20809|0.20809|0.20809	0.042000|0.042000|0.042000	0.13812|0.13812|0.13812	0.557000|0.557000|0.557000	0.23454|0.23454|0.23454	-0.134000|-0.134000|-0.134000	0.11516|0.11516|0.11516	-0.314000|-0.314000|-0.314000	0.08810|0.08810|0.08810	AAA|AAA|AAA		0.458	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
MROH8	140699	broad.mit.edu	37	20	35757456	35757456	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:35757456C>A	ENST00000400441.3	-	14	1763	c.1764G>T	c.(1762-1764)aaG>aaT	p.K588N	MROH8_ENST00000217333.8_Missense_Mutation_p.K417N|MROH8_ENST00000441008.2_Missense_Mutation_p.K574N			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	473								p.K588N(1)									CATATGCCATCTTCTCCTGTG	0.562																																					p.D554Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1660T	20						.						81.0	80.0	81.0					20																	35757456		1969	4170	6139	35190870	SO:0001583	missense	140699	exon12			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1764G>T	20.37:g.35757456C>A	ENSP00000383291:p.Lys588Asn		35190870	NM_213632	Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.19|19.19|19.19	3.778753|3.778753|3.778753	0.70107|0.70107|0.70107	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000417458;ENST00000421643|ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811;ENST00000400440	.|T;T;T|.	.|0.34472|.	.|3.95;4.22;1.36|.	5.35|5.35|5.35	5.35|5.35|5.35	0.76521|0.76521|0.76521	.|.|.	.|0.183433|.	.|0.38492|.	.|N|.	.|0.001665|.	T|T|T	0.65913|0.65913|0.65913	0.2737|0.2737|0.2737	L|L|L	0.60455|0.60455|0.60455	1.87|1.87|1.87	0.38430|0.38430|0.38430	D|D|D	0.946425|0.946425|0.946425	.|D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;1.0|.	.|D;D;D;D|.	.|0.91635|.	.|0.997;0.999;0.999;0.998|.	T|T|T	0.66921|0.66921|0.66921	-0.5801|-0.5801|-0.5801	5|10|5	.|0.26408|.	.|T|.	.|0.33|.	-19.3618|-19.3618|-19.3618	14.5518|14.5518|14.5518	0.68073|0.68073|0.68073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|588;473;598;422|.	.|E7ETR9;Q9H579;Q6PF12;Q9H579-2|.	.|.;CT132_HUMAN;.;.|.	Y|N|I	216;590|574;588;417|615;619	.|ENSP00000392144:K574N;ENSP00000383291:K588N;ENSP00000217333:K417N|.	.|ENSP00000217333:K417N|.	D|K|R	-|-|-	1|3|2	0|2|0	C20orf132|C20orf132|C20orf132	35190870|35190870|35190870	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.726000|0.726000|0.726000	0.41606|0.41606|0.41606	3.432000|3.432000|3.432000	0.52824|0.52824|0.52824	2.511000|2.511000|2.511000	0.84671|0.84671|0.84671	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|AAG|AGA		0.562	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503	
RPRD1B	58490	broad.mit.edu	37	20	36685947	36685947	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:36685947G>T	ENST00000373433.4	+	4	831	c.429G>T	c.(427-429)aaG>aaT	p.K143N		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	143					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.K143N(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CAGAAGAGAAGAAATCTCTGA	0.438											OREG0025919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K143N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G429T	20						.						66.0	65.0	65.0					20																	36685947		2203	4300	6503	36119361	SO:0001583	missense	58490	exon4			AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.429G>T	20.37:g.36685947G>T	ENSP00000362532:p.Lys143Asn	864	36119361	NM_021215	Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606559	0.87157	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.16	4.21	0.49690	.	0.271200	0.47093	D	0.000248	T	0.59142	0.2172	L	0.60455	1.87	0.43766	D	0.996289	B	0.30511	0.282	B	0.33196	0.159	T	0.59616	-0.7421	9	0.41790	T	0.15	-13.4272	12.8404	0.57800	0.0779:0.0:0.9221:0.0	.	143	Q9NQG5	RPR1B_HUMAN	N	143;25	.	ENSP00000362532:K143N	K	+	3	2	RPRD1B	36119361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.543000	0.45752	1.408000	0.46895	0.655000	0.94253	AAG		0.438	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215	
TGM2	7052	broad.mit.edu	37	20	36768027	36768027	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:36768027G>A	ENST00000361475.2	-	9	1302	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	TGM2_ENST00000536701.1_Missense_Mutation_p.R296C|TGM2_ENST00000536724.1_Missense_Mutation_p.R317C	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	377					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TTGATGGCACGAACTGGAACT	0.587																																					p.R377C												.	.	0			c.C1129T	20						.						80.0	60.0	67.0					20																	36768027		2203	4300	6503	36201441	SO:0001583	missense	7052	exon9			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1129C>T	20.37:g.36768027G>A	ENSP00000355330:p.Arg377Cys		36201441	NM_198951	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580328	0.86645	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.24151	1.87;1.87;1.87	4.91	3.9	0.45041	.	0.502419	0.22194	N	0.063339	T	0.50701	0.1631	M	0.87180	2.865	0.44643	D	0.997625	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	P;P;D;P;P	0.65010	0.899;0.772;0.931;0.795;0.837	T	0.56347	-0.7994	10	0.72032	D	0.01	-12.4499	10.3051	0.43676	0.0:0.0:0.6571:0.3429	.	317;296;377;317;377	F5H6P0;B4DIT7;P21980-2;B4DTN7;P21980	.;.;.;.;TGM2_HUMAN	C	377;296;317	ENSP00000355330:R377C;ENSP00000444701:R296C;ENSP00000437479:R317C	ENSP00000355330:R377C	R	-	1	0	TGM2	36201441	0.706000	0.27856	0.252000	0.24328	0.947000	0.59692	3.894000	0.56250	2.558000	0.86282	0.591000	0.81541	CGT		0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	
SPEF1	25876	broad.mit.edu	37	20	3759443	3759443	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:3759443C>A	ENST00000379756.3	-	5	589	c.429G>T	c.(427-429)caG>caT	p.Q143H	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	143						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)		p.Q143H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CTCGGGCCTTCTGGGATACAC	0.572																																					p.Q143H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G429T	20						.						43.0	45.0	44.0					20																	3759443		1951	4151	6102	3707443	SO:0001583	missense	25876	exon5			AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"""chromosome 20 open reading frame 28"""	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.429G>T	20.37:g.3759443C>A	ENSP00000369080:p.Gln143His		3707443	NM_015417	A5YM71|D3DVY0|Q5JX78	Missense_Mutation	SNP	ENST00000379756.3	37	CCDS13063.2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877921	0.51801	.	.	ENSG00000101222	ENST00000379756	T	0.24151	1.87	4.82	3.88	0.44766	.	0.646430	0.14272	N	0.330120	T	0.35595	0.0937	L	0.46157	1.445	0.39882	D	0.973656	P	0.36789	0.57	P	0.51266	0.664	T	0.14615	-1.0466	10	0.46703	T	0.11	-9.9952	9.1398	0.36897	0.0:0.9006:0.0:0.0994	.	143	Q9Y4P9	SPEF1_HUMAN	H	143	ENSP00000369080:Q143H	ENSP00000369080:Q143H	Q	-	3	2	SPEF1	3707443	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	1.373000	0.34272	1.397000	0.46682	0.655000	0.94253	CAG		0.572	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077760.2		
PPP1R16B	26051	broad.mit.edu	37	20	37546833	37546833	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:37546833G>A	ENST00000299824.1	+	11	1417	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E368K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	410					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.E410K(2)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GCTACTCTCCGAATTTCCTAC	0.567																																					p.E368K												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G1102A	20						.						121.0	128.0	126.0					20																	37546833		2203	4300	6503	36980247	SO:0001583	missense	26051	exon10			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1228G>A	20.37:g.37546833G>A	ENSP00000299824:p.Glu410Lys		36980247	NM_001172735	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126680	0.37533	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.70869	-0.31;-0.52	5.44	5.44	0.79542	.	0.227351	0.44902	D	0.000414	T	0.56601	0.1996	L	0.40543	1.245	0.37825	D	0.928511	P;B	0.35628	0.513;0.342	B;B	0.20384	0.029;0.016	T	0.60209	-0.7308	10	0.10377	T	0.69	.	17.4517	0.87594	0.0:0.0:1.0:0.0	.	368;410	E9PFS8;Q96T49	.;PP16B_HUMAN	K	410;368	ENSP00000299824:E410K;ENSP00000362428:E368K	ENSP00000299824:E410K	E	+	1	0	PPP1R16B	36980247	1.000000	0.71417	0.922000	0.36590	0.542000	0.35054	4.352000	0.59404	2.555000	0.86185	0.655000	0.94253	GAA		0.567	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
PTPRT	11122	broad.mit.edu	37	20	40730799	40730799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:40730799C>A	ENST00000373187.1	-	26	3678	c.3679G>T	c.(3679-3681)Gaa>Taa	p.E1227*	PTPRT_ENST00000356100.2_Nonsense_Mutation_p.E1236*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.E1217*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.E1246*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.E1226*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.E1237*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.E1230*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1227	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.E1249*(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTGCTGGATTCTCCGTCCACT	0.547																																					p.E1246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3736T	20						.						81.0	82.0	82.0					20																	40730799		2136	4269	6405	40164213	SO:0001587	stop_gained	11122	exon27			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3679G>T	20.37:g.40730799C>A	ENSP00000362283:p.Glu1227*		40164213	NM_133170	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	45	11.275280	0.99540	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.48	5.48	0.80851	.	0.056219	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.354	0.94404	0.0:1.0:0.0:0.0	.	.	.	.	X	1226;1227;1230;1236;1249;1237;1217	.	ENSP00000348408:E1236X	E	-	1	0	PTPRT	40164213	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	7.818000	0.86416	2.588000	0.87417	0.650000	0.86243	GAA		0.547	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
SRSF6	6431	broad.mit.edu	37	20	42089365	42089365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:42089365C>T	ENST00000244020.3	+	6	803	c.697C>T	c.(697-699)Cga>Tga	p.R233*		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	233	Arg/Ser-rich (RS domain).				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.R233*(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GAGCAAAGGTCGATCACGTTC	0.433																																					p.R233X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C697T	20						.						57.0	52.0	54.0					20																	42089365		2203	4300	6503	41522779	SO:0001587	stop_gained	6431	exon6			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.697C>T	20.37:g.42089365C>T	ENSP00000244020:p.Arg233*		41522779	NM_006275	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Nonsense_Mutation	SNP	ENST00000244020.3	37	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.714380	0.96830	.	.	ENSG00000124193	ENST00000244020	.	.	.	5.97	5.97	0.96955	.	0.192641	0.41938	D	0.000782	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2039	0.93722	0.0:1.0:0.0:0.0	.	.	.	.	X	233	.	ENSP00000244020:R233X	R	+	1	2	SRSF6	41522779	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.672000	0.68102	2.833000	0.97629	0.585000	0.79938	CGA		0.433	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275	
RIMS4	140730	broad.mit.edu	37	20	43385614	43385614	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:43385614G>A	ENST00000372851.3	-	5	582	c.516C>T	c.(514-516)gtC>gtT	p.V172V	RIMS4_ENST00000541604.2_Silent_p.V173V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	172	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.V172V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ACTTGCGAGCGACTTTGGTCT	0.562																																					p.V172V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C516T	20						.						292.0	266.0	275.0					20																	43385614		2203	4300	6503	42819028	SO:0001819	synonymous_variant	140730	exon5				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546	ENST00000372851.3:c.516C>T	20.37:g.43385614G>A			42819028	NM_182970	A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	ENST00000372851.3	37	CCDS13338.1																																																																																				0.562	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970	
MATN4	8785	broad.mit.edu	37	20	43929858	43929858	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:43929858T>A	ENST00000372754.1	-	5	904	c.896A>T	c.(895-897)gAc>gTc	p.D299V	MATN4_ENST00000360607.6_Missense_Mutation_p.D217V|MATN4_ENST00000372756.1_Missense_Mutation_p.D258V|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372751.4_Missense_Mutation_p.D109V|MATN4_ENST00000342716.4_Missense_Mutation_p.D258V|MATN4_ENST00000537548.1_Missense_Mutation_p.D258V			O95460	MATN4_HUMAN	matrilin 4	299	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.D258V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCTGCAGTAGTCAATGGCTGG	0.592											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D258V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A773T	20						.						82.0	84.0	83.0					20																	43929858		2203	4300	6503	43363272	SO:0001583	missense	8785	exon5			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.896A>T	20.37:g.43929858T>A	ENSP00000361840:p.Asp299Val	920	43363272	NM_003833	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37		.	.	.	.	.	.	.	.	.	.	T	21.0	4.085117	0.76642	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;T;D;D;D	0.97232	-2.42;-2.42;-4.3;-0.5;-4.3;-4.3;-2.42	5.25	4.15	0.48705	.	0.145914	0.31358	N	0.007799	D	0.98826	0.9604	H	0.97265	3.97	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.71184	0.943;0.972	D	0.98662	1.0684	10	0.87932	D	0	.	10.1415	0.42738	0.0:0.0774:0.0:0.9226	.	217;258	O95460-4;O95460-2	.;.	V	109;299;258;217;258;258;299;109	ENSP00000361839:D109V;ENSP00000361840:D299V;ENSP00000361842:D258V;ENSP00000353819:D217V;ENSP00000343164:D258V;ENSP00000440328:D258V;ENSP00000361837:D109V	ENSP00000255132:D299V	D	-	2	0	MATN4	43363272	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	3.254000	0.51477	1.036000	0.39998	0.529000	0.55759	GAC		0.592	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		
EPPIN	57119	broad.mit.edu	37	20	44170792	44170792	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:44170792G>A	ENST00000354280.4	-	4	459	c.393C>T	c.(391-393)cgC>cgT	p.R131R	EPPIN_ENST00000555685.1_Intron|WFDC6_ENST00000600168.1_5'Flank|WFDC6_ENST00000372670.3_5'Flank|EPPIN_ENST00000409554.1_3'UTR|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000336443.3_Splice_Site_p.R115R	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor	131	Interaction with LTF.|Interaction with SEMG1.				defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R115R(2)									ATCAGGGAAAGCCTGCAGAGA	0.473																																					p.R115R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C345T	20						.						143.0	118.0	126.0					20																	44170792		2203	4300	6503	43604206	SO:0001630	splice_region_variant	57119	exon3			AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.392-1C>T	20.37:g.44170792G>A			43604206	NM_181502	A6PVD6|Q86TP9|Q96SD7|Q9HD30	Silent	SNP	ENST00000354280.4	37	CCDS13359.1																																																																																				0.473	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4		Silent
WFDC3	140686	broad.mit.edu	37	20	44403082	44403082	+	Splice_Site	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:44403082C>A	ENST00000243938.4	-	7	764	c.681G>T	c.(679-681)gaG>gaT	p.E227D	WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Splice_Site_p.E133D|WFDC3_ENST00000372630.2_Splice_Site_p.E90D	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	227						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E227D(1)		endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GCACCGGGATCTctgcaagta	0.502																																					p.E227D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G681T	20						.						121.0	110.0	114.0					20																	44403082		2203	4300	6503	43836489	SO:0001630	splice_region_variant	140686	exon7			AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.680-1G>T	20.37:g.44403082C>A			43836489	NM_080614	A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	CCDS33478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.117164|3.117164	0.56505|0.56505	.|.	.|.	ENSG00000124116|ENSG00000124116	ENST00000243938;ENST00000372630;ENST00000372632|ENST00000337205	T;T;T|.	0.25749|.	1.79;1.78;1.83|.	3.39|3.39	2.42|2.42	0.29668|0.29668	.|.	0.206198|.	0.24254|.	N|.	0.040145|.	T|T	0.33818|0.33818	0.0876|0.0876	L|L	0.34521|0.34521	1.04|1.04	0.29317|0.29317	N|N	0.867623|0.867623	B|.	0.10296|.	0.003|.	B|.	0.08055|.	0.003|.	T|T	0.25117|0.25117	-1.0141|-1.0141	10|5	0.19147|.	T|.	0.46|.	.|.	7.9273|7.9273	0.29883|0.29883	0.2453:0.7547:0.0:0.0|0.2453:0.7547:0.0:0.0	.|.	227|.	Q8IUB2|.	WFDC3_HUMAN|.	D|I	227;90;133|221	ENSP00000243938:E227D;ENSP00000361713:E90D;ENSP00000361715:E133D|.	ENSP00000243938:E227D|.	E|R	-|-	3|2	2|0	WFDC3|WFDC3	43836489|43836489	0.344000|0.344000	0.24827|0.24827	0.771000|0.771000	0.31576|0.31576	0.879000|0.879000	0.50718|0.50718	0.317000|0.317000	0.19487|0.19487	0.968000|0.968000	0.38212|0.38212	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.502	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1		Missense_Mutation
ZNF335	63925	broad.mit.edu	37	20	44586496	44586496	+	Silent	SNP	G	G	A	rs138057456		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:44586496G>A	ENST00000322927.2	-	16	2425	c.2325C>T	c.(2323-2325)ggC>ggT	p.G775G	ZNF335_ENST00000426788.1_Silent_p.G620G	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	775					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.G775G(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGATGGTGGCGCCGCCCAGGG	0.597																																					p.G775G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2325T	20						.	A		1,4405	2.1+/-5.4	0,1,2202	93.0	92.0	92.0		2325	-7.8	0.4	20	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	ZNF335	NM_022095.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		775/1343	44586496	1,13005	2203	4300	6503	44019903	SO:0001819	synonymous_variant	63925	exon16			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2325C>T	20.37:g.44586496G>A			44019903	NM_022095	B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	CCDS13389.1																																																																																				0.597	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095	
NCOA5	57727	broad.mit.edu	37	20	44699120	44699120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:44699120G>A	ENST00000290231.6	-	3	258	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	32	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R32*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGACTTCCTCGAATTGGGGAT	0.532																																					p.R32X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C94T	20						.						101.0	100.0	100.0					20																	44699120		2203	4300	6503	44132527	SO:0001587	stop_gained	57727	exon3				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.94C>T	20.37:g.44699120G>A	ENSP00000290231:p.Arg32*		44132527	NM_020967	B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Nonsense_Mutation	SNP	ENST00000290231.6	37	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998698	0.97189	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.39	5.39	0.77823	.	0.145205	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0361	18.3288	0.90262	0.0:0.0:1.0:0.0	.	.	.	.	X	32	.	ENSP00000290231:R32X	R	-	1	2	NCOA5	44132527	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.473000	0.53122	2.801000	0.96364	0.650000	0.86243	CGA		0.532	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967	
CDH22	64405	broad.mit.edu	37	20	44845507	44845507	+	Missense_Mutation	SNP	C	C	T	rs372135667		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:44845507C>T	ENST00000372262.3	-	4	1196	c.796G>A	c.(796-798)Gta>Ata	p.V266I	CDH22_ENST00000537909.1_Missense_Mutation_p.V266I|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	266	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGGTGACTACGATGGTGACG	0.627																																					p.V266I												.	.	0			c.G796A	20						.		ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	93.0	98.0		796	4.2	1.0	20		98	0,8600		0,0,4300	no	missense	CDH22	NM_021248.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	266/829	44845507	1,13005	2203	4300	6503	44278914	SO:0001583	missense	64405	exon4			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.796G>A	20.37:g.44845507C>T	ENSP00000361336:p.Val266Ile		44278914	NM_021248	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	c	15.51	2.854750	0.51376	2.27E-4	0.0	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.51574	0.7;0.7	4.17	4.17	0.49024	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.333388	0.28247	N	0.016055	T	0.30355	0.0762	N	0.04805	-0.155	0.27586	N	0.949435	B	0.22800	0.075	B	0.23852	0.049	T	0.38824	-0.9643	10	0.72032	D	0.01	.	16.2392	0.82399	0.0:1.0:0.0:0.0	.	266	Q9UJ99	CAD22_HUMAN	I	266	ENSP00000361336:V266I;ENSP00000437790:V266I	ENSP00000361336:V266I	V	-	1	0	CDH22	44278914	0.022000	0.18835	1.000000	0.80357	0.988000	0.76386	1.356000	0.34079	2.379000	0.81126	0.525000	0.51046	GTA		0.627	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
SLC35C2	51006	broad.mit.edu	37	20	44986401	44986401	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:44986401G>A	ENST00000372227.1	-	3	672	c.132C>T	c.(130-132)ttC>ttT	p.F44F	SLC35C2_ENST00000372230.5_Silent_p.F44F|SLC35C2_ENST00000317734.8_Silent_p.F44F|SLC35C2_ENST00000243896.2_Silent_p.F44F|SLC35C2_ENST00000543605.1_Silent_p.F73F|SLC35C2_ENST00000372229.1_Intron	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	44					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.F44F(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TGAAGAGGGGGAAATGGAAGC	0.632																																					p.F44F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C132T	20						.						70.0	70.0	70.0					20																	44986401		2203	4300	6503	44419808	SO:0001819	synonymous_variant	51006	exon3				CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.132C>T	20.37:g.44986401G>A			44419808	NM_173073	B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Silent	SNP	ENST00000372227.1	37	CCDS13396.1																																																																																				0.632	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1	NM_015945	
SLC13A3	64849	broad.mit.edu	37	20	45212273	45212273	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:45212273A>G	ENST00000279027.4	-	9	1175	c.1157T>C	c.(1156-1158)gTc>gCc	p.V386A	SLC13A3_ENST00000413164.2_Missense_Mutation_p.V336A|SLC13A3_ENST00000290317.5_Missense_Mutation_p.V339A|SLC13A3_ENST00000396360.1_Missense_Mutation_p.V304A|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000435032.1_Missense_Mutation_p.S9P|SLC13A3_ENST00000495082.1_Missense_Mutation_p.V339A|SLC13A3_ENST00000472148.1_Missense_Mutation_p.V304A	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	386					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.V386A(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAAGATGGTGACAATAGCCAC	0.542																																					p.V336A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1007C	20						.						128.0	108.0	115.0					20																	45212273		2203	4300	6503	44645680	SO:0001583	missense	64849	exon8			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1157T>C	20.37:g.45212273A>G	ENSP00000279027:p.Val386Ala		44645680	NM_001193339	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.897|5.897	0.349553|0.349553	0.11182|0.11182	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000435032|ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915	T|T;T;T;T;T;T;T	0.33438|0.03094	1.41|4.05;4.09;4.05;4.09;4.05;4.05;4.05	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.323258	.|0.32416	.|N	.|0.006125	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.04203|0.04203	-0.255|-0.255	0.80722|0.80722	D|D	1|1	D|B;B;B;B	0.62365|0.25048	0.991|0.117;0.016;0.036;0.078	P|B;B;B;B	0.44597|0.31101	0.454|0.074;0.076;0.023;0.124	T|T	0.40720|0.40720	-0.9548|-0.9548	9|10	0.66056|0.02654	D|T	0.02|1	-63.0827|-63.0827	11.9402|11.9402	0.52896|0.52896	0.855:0.1449:0.0:0.0|0.855:0.1449:0.0:0.0	.|.	9|336;304;339;386	B4E181|B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.|.;.;.;S13A3_HUMAN	P|A	9|339;304;386;304;336;339;339	ENSP00000403394:S9P|ENSP00000290317:V339A;ENSP00000379648:V304A;ENSP00000279027:V386A;ENSP00000420177:V304A;ENSP00000415852:V336A;ENSP00000419621:V339A;ENSP00000417784:V339A	ENSP00000403394:S9P|ENSP00000279027:V386A	S|V	-|-	1|2	0|0	SLC13A3|SLC13A3	44645680|44645680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	5.068000|5.068000	0.64364|0.64364	2.180000|2.180000	0.69256|0.69256	0.533000|0.533000	0.62120|0.62120	TCA|GTC		0.542	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
TP53RK	112858	broad.mit.edu	37	20	45315700	45315700	+	3'UTR	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:45315700G>A	ENST00000372102.3	-	0	484				RP1-28H20.3_ENST00000606362.1_lincRNA			Q96S44	PRPK_HUMAN	TP53 regulating kinase						lipopolysaccharide biosynthetic process (GO:0009103)|protein phosphorylation (GO:0006468)|tRNA processing (GO:0008033)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.R152*(1)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TCGTGCATTCGAGCCAAAACC	0.483																																					p.R152X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C454T	20						.						139.0	151.0	147.0					20																	45315700		2203	4300	6503	44749107	SO:0001624	3_prime_UTR_variant	112858	exon2				CCDS13401.1	20q13.2	2014-05-14	2004-05-10	2004-05-12	ENSG00000172315	ENSG00000172315			16197	protein-coding gene	gene with protein product		608679	"""chromosome 20 open reading frame 64"""	C20orf64		11546806, 12914926	Standard	NM_033550		Approved	dJ101A2.2, prpk, Nori-2p, BUD32	uc002xsk.3	Q96S44	OTTHUMG00000085887	ENST00000372102.3:c.*93C>T	20.37:g.45315700G>A			44749107	NM_033550	B3KU44|Q3T977|Q5JZ01|Q6NZ60|Q96FM7|Q9NQE6	Nonsense_Mutation	SNP	ENST00000372102.3	37		.	.	.	.	.	.	.	.	.	.	G	37	6.252549	0.97412	.	.	ENSG00000172315	ENST00000372114	.	.	.	5.27	2.17	0.27698	.	0.399137	0.27782	N	0.017861	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-0.319	10.644	0.45608	0.0:0.1145:0.4994:0.3861	.	.	.	.	X	152	.	ENSP00000361186:R152X	R	-	1	2	TP53RK	44749107	0.197000	0.23362	0.975000	0.42487	0.439000	0.31926	1.366000	0.34193	0.328000	0.23435	0.655000	0.94253	CGA		0.483	TP53RK-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000193688.1	NM_033550	
EYA2	2139	broad.mit.edu	37	20	45725763	45725763	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:45725763T>G	ENST00000327619.5	+	9	1218	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V	EYA2_ENST00000357410.3_Missense_Mutation_p.F282V|EYA2_ENST00000317304.6_Missense_Mutation_p.F282V	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	282					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.F282V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AATAATTATTTTTCACTCCTT	0.408																																					p.F282V	Pancreas(120;56 1725 18501 25218 43520)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T844G	20						.						275.0	251.0	259.0					20																	45725763		2203	4300	6503	45159170	SO:0001583	missense	2139	exon9				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.844T>G	20.37:g.45725763T>G	ENSP00000333640:p.Phe282Val		45159170	NM_172110	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814743	0.90790	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.91	5.91	0.95273	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92260	0.7545	M	0.87971	2.92	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.997;1.0;1.0	D	0.93438	0.6791	10	0.87932	D	0	-4.9571	16.3483	0.83171	0.0:0.0:0.0:1.0	.	282;282;282;282	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	V	282;282;282;282;153	ENSP00000333640:F282V;ENSP00000349986:F282V;ENSP00000321590:F282V;ENSP00000395427:F153V	ENSP00000321590:F282V	F	+	1	0	EYA2	45159170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.244000	0.78228	2.254000	0.74563	0.533000	0.62120	TTT		0.408	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
ZMYND8	23613	broad.mit.edu	37	20	45874842	45874842	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:45874842C>T	ENST00000311275.7	-	14	2387	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	ZMYND8_ENST00000396281.4_Missense_Mutation_p.E712K|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E732K|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E649K|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E707K|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E712K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E739K|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E707K|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E660K|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E732K|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E712K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E732K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E707K	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	712					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.E732K(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATGACAAGTTCGCTCTCTGAA	0.463																																					p.E732K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2194A	20						.						144.0	140.0	141.0					20																	45874842		2203	4300	6503	45308249	SO:0001583	missense	23613	exon14			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.2134G>A	20.37:g.45874842C>T	ENSP00000312237:p.Glu712Lys		45308249	NM_012408	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.728173|5.728173	0.96856|0.96856	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T|.	0.58358|.	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77980|0.77980	0.4212|0.4212	M|M	0.75264|0.75264	2.295|2.295	0.54753|0.54753	D|D	0.999988|0.999988	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.999;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;0.999|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.87578|.	0.994;0.998;0.995;0.995;0.994;0.995;0.998;0.998;0.997;0.998;0.998;0.995;0.995;0.995;0.995;0.994;0.994;0.995|.	T|T	0.75912|0.75912	-0.3150|-0.3150	10|5	0.32370|.	T|.	0.25|.	-16.5942|-16.5942	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	707;739;707;707;687;706;732;712;707;732;732;712;649;707;660;732;660;712|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	K|Q	707;712;707;713;733;732;712;739;712;649;732;707;660|639	ENSP00000354166:E707K;ENSP00000312237:E712K;ENSP00000392964:E707K;ENSP00000335537:E732K;ENSP00000379577:E712K;ENSP00000439800:E739K;ENSP00000348246:E712K;ENSP00000396725:E649K;ENSP00000418210:E732K;ENSP00000361093:E707K;ENSP00000443086:E660K|.	ENSP00000262975:E713K|.	E|R	-|-	1|2	0|0	ZMYND8|ZMYND8	45308249|45308249	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.989000|0.989000	0.77384|0.77384	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.463	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
NCOA3	8202	broad.mit.edu	37	20	46275836	46275836	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:46275836A>C	ENST00000371998.3	+	18	3463	c.3272A>C	c.(3271-3273)aAa>aCa	p.K1091T	NCOA3_ENST00000371997.3_Missense_Mutation_p.K1086T|NCOA3_ENST00000341724.6_Missense_Mutation_p.K1021T|NCOA3_ENST00000372004.3_Missense_Mutation_p.K1091T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1091	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.K1091T(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTAGAGCCCAAACAGGATGCT	0.433																																					p.K1091T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3272C	20						.						121.0	100.0	107.0					20																	46275836		2203	4300	6503	45709243	SO:0001583	missense	8202	exon18			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3272A>C	20.37:g.46275836A>C	ENSP00000361066:p.Lys1091Thr		45709243	NM_001174087	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812683	0.50527	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02140	4.44;4.62;4.62;4.43	5.61	5.61	0.85477	Nuclear receptor coactivator, interlocking (1);Nuclear receptor coactivator, Ncoa-type, interlocking (1);	0.065139	0.64402	D	0.000006	T	0.02688	0.0081	N	0.22421	0.69	0.38150	D	0.938716	B;P;B;B;P;P	0.47762	0.1;0.9;0.1;0.1;0.486;0.542	B;B;B;B;B;B	0.43082	0.063;0.407;0.063;0.063;0.205;0.309	T	0.68036	-0.5515	10	0.27785	T	0.31	-29.0821	15.7966	0.78416	1.0:0.0:0.0:0.0	.	1091;1086;1095;1091;1091;1091	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	T	1091;1021;1091;1091;1086	ENSP00000342123:K1021T;ENSP00000361073:K1091T;ENSP00000361066:K1091T;ENSP00000361065:K1086T	ENSP00000345671:K1091T	K	+	2	0	NCOA3	45709243	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.423000	0.59861	2.144000	0.66660	0.482000	0.46254	AAA		0.433	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
RASSF2	9770	broad.mit.edu	37	20	4766954	4766954	+	Silent	SNP	G	G	A	rs200418178	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:4766954G>A	ENST00000379400.3	-	11	1029	c.834C>T	c.(832-834)ttC>ttT	p.F278F	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.F278F	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	278	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F278F(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CCGGCATCTCGAACTTTATAT	0.468													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20066	0.0		0.0	False		,,,				2504	0.0				p.F278F	Melanoma(158;1891 3343 50738)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C834T	20						.						146.0	161.0	156.0					20																	4766954		2203	4300	6503	4714954	SO:0001819	synonymous_variant	9770	exon10			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.834C>T	20.37:g.4766954G>A			4714954	NM_170774	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	ENST00000379400.3	37	CCDS13083.1																																																																																				0.468	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737	
ARFGEF2	10564	broad.mit.edu	37	20	47621724	47621724	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:47621724C>A	ENST00000371917.4	+	26	3550	c.3550C>A	c.(3550-3552)Ctg>Atg	p.L1184M		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1184					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.L1184M(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAAAGATTTTCTGAGGCCCTT	0.443																																					p.L1184M	Esophageal Squamous(176;1738 1974 26285 33069 35354)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3550A	20						.						127.0	125.0	126.0					20																	47621724		2203	4300	6503	47055131	SO:0001583	missense	10564	exon26			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3550C>A	20.37:g.47621724C>A	ENSP00000360985:p.Leu1184Met		47055131	NM_006420	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555865	0.65425	.	.	ENSG00000124198	ENST00000371917	T	0.70282	-0.47	5.95	4.04	0.47022	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83248	0.5213	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83035	-0.0160	10	0.54805	T	0.06	.	9.1463	0.36935	0.0:0.6715:0.0:0.3285	.	1184	Q9Y6D5	BIG2_HUMAN	M	1184	ENSP00000360985:L1184M	ENSP00000360985:L1184M	L	+	1	2	ARFGEF2	47055131	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.786000	0.38694	0.871000	0.35750	0.609000	0.83330	CTG		0.443	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
DDX27	55661	broad.mit.edu	37	20	47849867	47849867	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:47849867G>A	ENST00000371764.4	+	10	1158	c.1149G>A	c.(1147-1149)gaG>gaA	p.E383E	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	383	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.E383E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTTTGAGGAGCAGATGAAGG	0.557																																					p.E383E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1149A	20						.						87.0	68.0	75.0					20																	47849867		2203	4300	6503	47283274	SO:0001819	synonymous_variant	55661	exon10			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1149G>A	20.37:g.47849867G>A			47283274	NM_017895	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Silent	SNP	ENST00000371764.4	37	CCDS13416.1																																																																																				0.557	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1		
B4GALT5	9334	broad.mit.edu	37	20	48256324	48256324	+	Missense_Mutation	SNP	C	C	T	rs369508203		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:48256324C>T	ENST00000371711.4	-	7	995	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	270					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)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.E270K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CCAAAGAACTCGGTATAAGGA	0.453																																					p.E270K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G808A	20						.	C	LYS/GLU	0,4406		0,0,2203	119.0	112.0	114.0		808	5.2	0.9	20		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	B4GALT5	NM_004776.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	270/389	48256324	1,13005	2203	4300	6503	47689731	SO:0001583	missense	9334	exon7			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.808G>A	20.37:g.48256324C>T	ENSP00000360776:p.Glu270Lys		47689731	NM_004776	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555113	0.45487	0.0	1.16E-4	ENSG00000158470	ENST00000371711	D	0.81821	-1.54	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	N	0.25094	0.71	0.80722	D	1	P	0.43287	0.802	B	0.40782	0.34	T	0.68938	-0.5277	10	0.16420	T	0.52	-27.1965	18.7568	0.91836	0.0:1.0:0.0:0.0	.	270	O43286	B4GT5_HUMAN	K	270	ENSP00000360776:E270K	ENSP00000360776:E270K	E	-	1	0	B4GALT5	47689731	1.000000	0.71417	0.943000	0.38184	0.011000	0.07611	7.818000	0.86416	2.438000	0.82558	0.561000	0.74099	GAG		0.453	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776	
ADNP	23394	broad.mit.edu	37	20	49509472	49509472	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:49509472T>C	ENST00000396029.3	-	5	2346	c.1779A>G	c.(1777-1779)ccA>ccG	p.P593P	ADNP_ENST00000396032.3_Silent_p.P593P|ADNP_ENST00000371602.4_Silent_p.P593P|ADNP_ENST00000349014.3_Silent_p.P593P	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	593					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P593P(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCTTTGGCTGTGGCTTTGGAG	0.448																																					p.P593P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1779G	20						.						164.0	169.0	167.0					20																	49509472		2203	4300	6503	48942879	SO:0001819	synonymous_variant	23394	exon5			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1779A>G	20.37:g.49509472T>C			48942879	NM_015339	E1P5Y2|O94881|Q5BKU2|Q9UG34	Silent	SNP	ENST00000396029.3	37	CCDS13433.1																																																																																				0.448	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442	
DPM1	8813	broad.mit.edu	37	20	49552759	49552759	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:49552759A>C	ENST00000371588.5	-	8	630	c.604T>G	c.(604-606)Tgt>Ggt	p.C202G	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371583.5_Missense_Mutation_p.C197G|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371582.4_Missense_Mutation_p.C229G|AL034553.1_ENST00000584882.1_RNA	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	202					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.C202G(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TTAGAAACACATTTTTCTATT	0.338																																					p.C202G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T604G	20						.						86.0	82.0	83.0					20																	49552759		2203	4300	6503	48986166	SO:0001583	missense	8813	exon8			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.604T>G	20.37:g.49552759A>C	ENSP00000360644:p.Cys202Gly		48986166	NM_003859	O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.40|18.40	3.614705|3.614705	0.66672|0.66672	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.041341|.	0.85682|.	D|.	0.000000|.	T|T	0.80330|0.80330	0.4603|0.4603	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	P;P|.	0.38745|.	0.645;0.645|.	B;B|.	0.32583|.	0.065;0.148|.	T|T	0.83050|0.83050	-0.0153|-0.0153	9|5	.|.	.|.	.|.	-15.7308|-15.7308	15.9494|15.9494	0.79820|0.79820	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	202;237|.	O60762;E9PBD4|.	DPM1_HUMAN;.|.	G|R	202;229;237;197;197|236	ENSP00000360644:C202G;ENSP00000360638:C229G;ENSP00000360639:C197G;ENSP00000394921:C197G|.	.|.	C|M	-|-	1|2	0|0	DPM1|DPM1	48986166|48986166	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.998000|0.998000	0.95712|0.95712	8.781000|8.781000	0.91805|0.91805	2.242000|2.242000	0.73789|0.73789	0.533000|0.533000	0.62120|0.62120	TGT|ATG		0.338	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859	
TSHZ2	128553	broad.mit.edu	37	20	51870971	51870971	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:51870971T>C	ENST00000371497.5	+	2	1861	c.974T>C	c.(973-975)tTt>tCt	p.F325S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.F322S|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.F322S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	325					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAACGCGTTTTTGATGTCAAT	0.453																																					p.F325S												.	.	0			c.T974C	20						.						77.0	84.0	82.0					20																	51870971		2203	4300	6503	51304378	SO:0001583	missense	128553	exon2			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.974T>C	20.37:g.51870971T>C	ENSP00000360552:p.Phe325Ser		51304378	NM_173485	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.050119	0.55218	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.13657	2.57;2.57	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01195	-1.1422	10	0.51188	T	0.08	-4.5315	16.1354	0.81481	0.0:0.0:0.0:1.0	.	325	Q9NRE2	TSH2_HUMAN	S	325;322	ENSP00000360552:F325S;ENSP00000333114:F322S	ENSP00000333114:F322S	F	+	2	0	TSHZ2	51304378	1.000000	0.71417	0.180000	0.23079	0.558000	0.35554	5.852000	0.69488	2.206000	0.71126	0.523000	0.50628	TTT		0.453	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
ZNF217	7764	broad.mit.edu	37	20	52192435	52192435	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:52192435C>T	ENST00000371471.2	-	4	3293	c.2868G>A	c.(2866-2868)ccG>ccA	p.P956P	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.P956P			O75362	ZN217_HUMAN	zinc finger protein 217	956					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P956P(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACAGTCCTGCGGTAACAGTG	0.557																																					p.P956P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G2868A	20						.						150.0	118.0	129.0					20																	52192435		2203	4300	6503	51625842	SO:0001819	synonymous_variant	7764	exon3			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2868G>A	20.37:g.52192435C>T			51625842	NM_006526	E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	CCDS13443.1																																																																																				0.557	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
ZNF217	7764	broad.mit.edu	37	20	52193292	52193292	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:52193292C>T	ENST00000371471.2	-	4	2436	c.2011G>A	c.(2011-2013)Gca>Aca	p.A671T	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.A671T			O75362	ZN217_HUMAN	zinc finger protein 217	671					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A671T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGTCAGCTGCGGTCTCCGTT	0.483																																					p.A671T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2011A	20						.						155.0	159.0	157.0					20																	52193292		2203	4300	6503	51626699	SO:0001583	missense	7764	exon3			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2011G>A	20.37:g.52193292C>T	ENSP00000360526:p.Ala671Thr		51626699	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	1.784	-0.481154	0.04383	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08008	3.14;3.14	5.03	0.742	0.18341	.	1.092080	0.06895	N	0.804926	T	0.05868	0.0153	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46205	-0.9208	10	0.11182	T	0.66	-3.4205	5.7814	0.18308	0.1265:0.5884:0.0:0.2851	.	671	O75362	ZN217_HUMAN	T	671	ENSP00000360526:A671T;ENSP00000304308:A671T	ENSP00000304308:A671T	A	-	1	0	ZNF217	51626699	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.383000	0.07398	0.229000	0.21039	0.555000	0.69702	GCA		0.483	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
ZNF217	7764	broad.mit.edu	37	20	52198912	52198912	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:52198912C>T	ENST00000371471.2	-	2	879	c.454G>A	c.(454-456)Gat>Aat	p.D152N	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.D152N			O75362	ZN217_HUMAN	zinc finger protein 217	152					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTGAAAGAATCTTTGTGTGTT	0.423																																					p.D152N												.	.	0			c.G454A	20						.						151.0	144.0	146.0					20																	52198912		2203	4300	6503	51632319	SO:0001583	missense	7764	exon1			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.454G>A	20.37:g.52198912C>T	ENSP00000360526:p.Asp152Asn		51632319	NM_006526	E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704665	0.88924	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.27890	1.64;1.64	5.79	4.85	0.62838	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.052726	0.64402	D	0.000001	T	0.34454	0.0898	N	0.04787	-0.16	0.52099	D	0.999949	D	0.89917	1.0	D	0.91635	0.999	T	0.47071	-0.9145	10	0.56958	D	0.05	-41.5266	14.469	0.67504	0.0:0.9291:0.0:0.0709	.	152	O75362	ZN217_HUMAN	N	152	ENSP00000360526:D152N;ENSP00000304308:D152N	ENSP00000304308:D152N	D	-	1	0	ZNF217	51632319	1.000000	0.71417	0.906000	0.35671	0.945000	0.59286	6.060000	0.71141	1.457000	0.47850	0.655000	0.94253	GAT		0.423	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526	
CYP24A1	1591	broad.mit.edu	37	20	52786136	52786136	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:52786136A>C	ENST00000216862.3	-	4	1028	c.635T>G	c.(634-636)tTt>tGt	p.F212C	CYP24A1_ENST00000395955.3_Missense_Mutation_p.F212C|CYP24A1_ENST00000395954.3_Missense_Mutation_p.F70C	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	212					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.F212C(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CTTACTTTCAAACGACCATTT	0.413																																					p.F212C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T635G	20						.						133.0	107.0	116.0					20																	52786136		2203	4300	6503	52219543	SO:0001583	missense	1591	exon4			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.635T>G	20.37:g.52786136A>C	ENSP00000216862:p.Phe212Cys		52219543	NM_000782	Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	ENST00000216862.3	37	CCDS33491.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.171569	0.78452	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.69040	-0.37;-0.37;-0.37	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.82213	0.4988	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.79784	0.971;0.993;0.99	D	0.84970	0.0882	10	0.87932	D	0	-10.8729	13.2161	0.59861	1.0:0.0:0.0:0.0	.	212;212;70	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	C	212;212;70	ENSP00000216862:F212C;ENSP00000379285:F212C;ENSP00000379284:F70C	ENSP00000216862:F212C	F	-	2	0	CYP24A1	52219543	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.905000	0.92613	2.148000	0.66965	0.460000	0.39030	TTT		0.413	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2		
FAM209A	200232	broad.mit.edu	37	20	55099955	55099955	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:55099955G>A	ENST00000371328.3	+	1	414	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_Intron	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	31						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E31K(1)									GAAAACTAGCGAACCCCAGGG	0.537																																					p.E31K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G91A	20						.						123.0	113.0	116.0					20																	55099955		2203	4300	6503	54533362	SO:0001583	missense	388799	exon1			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.91G>A	20.37:g.55099955G>A	ENSP00000360379:p.Glu31Lys		54533362	NM_001012971	Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	G	8.128	0.782500	0.16189	.	.	ENSG00000124103	ENST00000371328	T	0.13196	2.61	5.51	4.56	0.56223	.	0.253502	0.27043	N	0.021215	T	0.16128	0.0388	M	0.64404	1.975	0.09310	N	1	B	0.21753	0.06	B	0.17433	0.018	T	0.14090	-1.0485	10	0.62326	D	0.03	-16.2839	10.5701	0.45196	0.0896:0.0:0.9104:0.0	.	31	Q5JX71	CT106_HUMAN	K	31	ENSP00000360379:E31K	ENSP00000360379:E31K	E	+	1	0	C20orf106	54533362	0.120000	0.22244	0.006000	0.13384	0.001000	0.01503	1.386000	0.34419	1.328000	0.45358	-0.363000	0.07495	GAA		0.537	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2		
FAM209A	200232	broad.mit.edu	37	20	55100054	55100054	+	Missense_Mutation	SNP	C	C	A	rs2019515		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:55100054C>A	ENST00000371328.3	+	1	513	c.190C>A	c.(190-192)Ctt>Att	p.L64I	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_Intron	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	64						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L64I(1)									GCTCTGGCTTCTTTTTGTTGT	0.468																																					p.L64I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C190A	20						.						152.0	139.0	143.0					20																	55100054		2203	4300	6503	54533461	SO:0001583	missense	388799	exon1			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.190C>A	20.37:g.55100054C>A	ENSP00000360379:p.Leu64Ile		54533461	NM_001012971	Q05C43	Missense_Mutation	SNP	ENST00000371328.3	37	CCDS33493.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462504	0.43736	.	.	ENSG00000124103	ENST00000371328	T	0.08720	3.06	5.51	-3.08	0.05347	.	1.580940	0.04026	N	0.300512	T	0.05823	0.0152	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.37056	-0.9722	10	0.35671	T	0.21	0.1847	0.4716	0.00533	0.3755:0.2307:0.1287:0.2652	.	64	Q5JX71	CT106_HUMAN	I	64	ENSP00000360379:L64I	ENSP00000360379:L64I	L	+	1	0	C20orf106	54533461	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.316000	0.01123	-0.884000	0.03976	-0.516000	0.04426	CTT		0.468	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2		
FAM209B	388799	broad.mit.edu	37	20	55111265	55111265	+	Missense_Mutation	SNP	G	G	A	rs374650237		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:55111265G>A	ENST00000371325.1	+	2	383	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	96						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R96H(1)									TTCCCATTTCGCACTCCACTA	0.398																																					p.R96H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G287A	20						.	G	HIS/ARG	0,4406		0,0,2203	92.0	93.0	92.0		287	2.2	0.0	20		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	C20orf107	NM_001013646.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	96/172	55111265	1,13005	2203	4300	6503	54544672	SO:0001583	missense	388799	exon2			AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	ENST00000371325.1:c.287G>A	20.37:g.55111265G>A	ENSP00000360376:p.Arg96His		54544672	NM_001013646	Q3KRB5	Missense_Mutation	SNP	ENST00000371325.1	37	CCDS33494.1	.	.	.	.	.	.	.	.	.	.	G	6.238	0.412070	0.11812	0.0	1.16E-4	ENSG00000213714	ENST00000371325	T	0.10192	2.9	3.12	2.16	0.27623	.	0.000000	0.43747	U	0.000533	T	0.15392	0.0371	L	0.28400	0.85	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.05550	-1.0878	10	0.36615	T	0.2	-18.9629	6.4203	0.21740	0.1423:0.0:0.8577:0.0	.	96	Q5JX69	CT107_HUMAN	H	96	ENSP00000360376:R96H	ENSP00000360376:R96H	R	+	2	0	C20orf107	54544672	0.379000	0.25123	0.010000	0.14722	0.007000	0.05969	2.378000	0.44309	0.651000	0.30788	-0.424000	0.05967	CGC		0.398	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1		
SPO11	23626	broad.mit.edu	37	20	55908298	55908298	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:55908298C>A	ENST00000371263.3	+	3	409	c.300C>A	c.(298-300)atC>atA	p.I100I	SPO11_ENST00000345868.4_Silent_p.I62I|SPO11_ENST00000371260.4_Silent_p.I62I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	100					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)	p.I100I(1)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CCAGAAAGATCAAAAGTGATT	0.303								Editing and processing nucleases																													p.I100I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C300A	20						.						78.0	83.0	81.0					20																	55908298		2203	4299	6502	55341705	SO:0001819	synonymous_variant	23626	exon3			AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.300C>A	20.37:g.55908298C>A			55341705	NM_012444	Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Silent	SNP	ENST00000371263.3	37	CCDS13456.1																																																																																				0.303	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444	
CTCFL	140690	broad.mit.edu	37	20	56089711	56089711	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:56089711C>T	ENST00000608263.1	-	6	1928	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000608425.1_Missense_Mutation_p.E423K|CTCFL_ENST00000608903.1_Missense_Mutation_p.E161K|CTCFL_ENST00000371196.2_Missense_Mutation_p.E423K|CTCFL_ENST00000422869.2_Missense_Mutation_p.E423K|CTCFL_ENST00000609232.1_Missense_Mutation_p.E423K|CTCFL_ENST00000433949.3_Missense_Mutation_p.E218K|CTCFL_ENST00000243914.3_Missense_Mutation_p.E423K|CTCFL_ENST00000423479.3_Missense_Mutation_p.E423K|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000539382.1_Missense_Mutation_p.E218K|CTCFL_ENST00000502686.2_Missense_Mutation_p.E161K|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608440.1_Missense_Mutation_p.E423K	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	423					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.E423K(2)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGGACATTTTCGCCGTGTTTC	0.488											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E423K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1267A	20						.						250.0	230.0	237.0					20																	56089711		2203	4300	6503	55523117	SO:0001583	missense	140690	exon7				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1267G>A	20.37:g.56089711C>T	ENSP00000476783:p.Glu423Lys	1012	55523117	NM_080618	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698387	0.48307	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000433949;ENST00000502686;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T	0.63913	2.74;2.77;2.77;2.79;2.86;-0.07;2.85;2.79	5.14	4.2	0.49525	Zinc finger, C2H2 (1);	0.150630	0.30464	N	0.009576	T	0.57695	0.2071	L	0.37897	1.145	0.38008	D	0.934456	P;P;P;P;P	0.51653	0.898;0.911;0.947;0.911;0.783	B;B;P;B;B	0.48795	0.356;0.138;0.59;0.138;0.084	T	0.65311	-0.6199	10	0.87932	D	0	-29.0499	10.1308	0.42678	0.0:0.8353:0.0:0.1647	.	423;423;423;423;423	A6XGM9;A6XGM2;A1L4C6;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	K	423;423;423;423;161;423;218;423	ENSP00000415579:E423K;ENSP00000243914:E423K;ENSP00000360239:E423K;ENSP00000392034:E423K;ENSP00000437999:E161K;ENSP00000403369:E423K;ENSP00000439998:E218K;ENSP00000399061:E423K	ENSP00000243914:E423K	E	-	1	0	CTCFL	55523117	0.992000	0.36948	1.000000	0.80357	0.037000	0.13140	2.083000	0.41615	1.296000	0.44742	0.655000	0.94253	GAA		0.488	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618	
PHACTR3	116154	broad.mit.edu	37	20	58318178	58318178	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:58318178G>A	ENST00000371015.1	+	2	602	c.135G>A	c.(133-135)acG>acA	p.T45T	PHACTR3_ENST00000395636.2_Silent_p.T4T|PHACTR3_ENST00000541461.1_Silent_p.T4T|PHACTR3_ENST00000355648.4_Silent_p.T4T|PHACTR3_ENST00000395639.4_Silent_p.T4T|PHACTR3_ENST00000361300.4_Silent_p.T4T|PHACTR3_ENST00000359926.3_Silent_p.T42T	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	45						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.T45T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGGACCAAACGCCCCCGGCGC	0.582																																					p.T45T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.G135A	20						.						90.0	101.0	97.0					20																	58318178		2203	4300	6503	57751573	SO:0001819	synonymous_variant	116154	exon2			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.135G>A	20.37:g.58318178G>A			57751573	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	CCDS13480.1																																																																																				0.582	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
SYCP2	10388	broad.mit.edu	37	20	58495414	58495414	+	Splice_Site	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:58495414C>A	ENST00000357552.3	-	5	522	c.297G>T	c.(295-297)aaG>aaT	p.K99N	SYCP2_ENST00000476314.1_5'UTR|SYCP2_ENST00000371001.2_Splice_Site_p.K99N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	99					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.K99N(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTATACTTATCTTTTGTATTA	0.289																																					p.K99N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G297T	20						.						56.0	48.0	51.0					20																	58495414		2201	4297	6498	57928809	SO:0001630	splice_region_variant	10388	exon4			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.297+1G>T	20.37:g.58495414C>A			57928809	NM_014258	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064488	0.76187	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.58506	3.59;3.59;3.59;0.33	5.74	5.74	0.90152	.	0.079556	0.53938	D	0.000052	T	0.79464	0.4450	M	0.82323	2.585	0.46416	D	0.999035	D	0.89917	1.0	D	0.87578	0.998	T	0.79541	-0.1761	9	.	.	.	-6.9733	19.9336	0.97129	0.0:1.0:0.0:0.0	.	99	Q9BX26	SYCP2_HUMAN	N	99;99;99;98	ENSP00000360040:K99N;ENSP00000350162:K99N;ENSP00000402456:K99N;ENSP00000399300:K98N	.	K	-	3	2	SYCP2	57928809	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	6.211000	0.72182	2.717000	0.92951	0.563000	0.77884	AAG		0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	Missense_Mutation
CHGB	1114	broad.mit.edu	37	20	5903275	5903275	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:5903275G>T	ENST00000378961.4	+	4	689	c.485G>T	c.(484-486)aGa>aTa	p.R162I		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	162						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.R162I(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAGAGCCAGAGAGAGGATGAG	0.547																																					p.R162I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G485T	20						.						53.0	55.0	54.0					20																	5903275		2203	4300	6503	5851275	SO:0001583	missense	1114	exon4				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.485G>T	20.37:g.5903275G>T	ENSP00000368244:p.Arg162Ile		5851275	NM_001819	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.242901	0.22796	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.01665	4.7;4.7	5.04	-0.223	0.13118	.	1.234350	0.05500	N	0.558239	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	B	0.30439	0.279	B	0.35813	0.211	T	0.51513	-0.8696	10	0.48119	T	0.1	-3.9379	9.0805	0.36550	0.5787:0.0:0.4213:0.0	.	162	P05060	SCG1_HUMAN	I	162;142	ENSP00000368244:R162I;ENSP00000416643:R142I	ENSP00000368244:R162I	R	+	2	0	CHGB	5851275	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.445000	0.21677	-0.047000	0.13423	0.563000	0.77884	AGA		0.547	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
MCM8	84515	broad.mit.edu	37	20	5948091	5948091	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:5948091A>G	ENST00000378896.3	+	9	1262	c.885A>G	c.(883-885)gaA>gaG	p.E295E	Y_RNA_ENST00000384650.1_RNA|MCM8_ENST00000378883.1_Silent_p.E295E|MCM8_ENST00000378886.2_Silent_p.E295E|MCM8_ENST00000265187.4_Silent_p.E295E	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	295					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E295E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAATCCAGGAATTGATGTCTG	0.398																																					p.E295E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A885G	20						.						118.0	111.0	114.0					20																	5948091		2203	4300	6503	5896091	SO:0001819	synonymous_variant	84515	exon9			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.885A>G	20.37:g.5948091A>G			5896091	NM_032485	B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	ENST00000378896.3	37	CCDS13094.1																																																																																				0.398	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485	
FAM217B	63939	broad.mit.edu	37	20	58519303	58519303	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:58519303G>T	ENST00000358293.3	+	5	720	c.305G>T	c.(304-306)aGa>aTa	p.R102I	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.R102I	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	102								p.R102I(1)									GATTCGGAAAGAATTCCCATT	0.433																																					p.R102I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G305T	20						.						80.0	78.0	79.0					20																	58519303		2203	4300	6503	57952698	SO:0001583	missense	63939	exon5			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.305G>T	20.37:g.58519303G>T	ENSP00000351040:p.Arg102Ile		57952698	NM_001190826	B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082276	0.94050	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.34472	1.36;1.36	5.66	5.66	0.87406	.	0.063980	0.64402	D	0.000020	T	0.61751	0.2372	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63193	-0.6692	10	0.87932	D	0	-14.3181	19.7503	0.96265	0.0:0.0:1.0:0.0	.	102	Q9NTX9	CT177_HUMAN	I	102	ENSP00000351040:R102I;ENSP00000354056:R102I	ENSP00000351040:R102I	R	+	2	0	C20orf177	57952698	1.000000	0.71417	0.011000	0.14972	0.863000	0.49368	9.106000	0.94253	2.648000	0.89879	0.655000	0.94253	AGA		0.433	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106	
SLC52A3	113278	broad.mit.edu	37	20	745858	745858	+	Silent	SNP	G	G	A	rs546271483		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:745858G>A	ENST00000217254.7	-	2	802	c.561C>T	c.(559-561)atC>atT	p.I187I	SLC52A3_ENST00000381944.3_Silent_p.I187I|SLC52A3_ENST00000473664.1_5'UTR	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	187					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)	p.I187I(1)									GTACCTGTGCGATGTCAGTCT	0.542																																					p.I187I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C561T	20						.						72.0	65.0	67.0					20																	745858		2202	4299	6501	693858	SO:0001819	synonymous_variant	113278	exon2			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.561C>T	20.37:g.745858G>A			693858	NM_033409	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	ENST00000217254.7	37	CCDS13007.1																																																																																				0.542	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409	
HAO1	54363	broad.mit.edu	37	20	7864275	7864275	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:7864275C>T	ENST00000378789.3	-	8	1129	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	360	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.V360M(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTTTCCTCACCAATGTCTTG	0.353																																					p.V360M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1078A	20						.						158.0	144.0	149.0					20																	7864275		2203	4300	6503	7812275	SO:0001583	missense	54363	exon8			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.1078G>A	20.37:g.7864275C>T	ENSP00000368066:p.Val360Met		7812275	NM_017545	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168899	0.57584	.	.	ENSG00000101323	ENST00000378789	T	0.35605	1.3	5.64	5.64	0.86602	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.395957	0.27912	N	0.017348	T	0.57227	0.2039	M	0.71296	2.17	0.45914	D	0.99875	D	0.76494	0.999	D	0.72338	0.977	T	0.59804	-0.7385	10	0.87932	D	0	0.8665	11.6342	0.51194	0.0:0.9116:0.0:0.0884	.	360	Q9UJM8	HAOX1_HUMAN	M	360	ENSP00000368066:V360M	ENSP00000368066:V360M	V	-	1	0	HAO1	7812275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.903000	0.39858	2.652000	0.90054	0.591000	0.81541	GTG		0.353	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2		
PLCB1	23236	broad.mit.edu	37	20	8352096	8352096	+	Splice_Site	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:8352096A>C	ENST00000338037.6	+	3	272	c.245A>C	c.(244-246)aAg>aCg	p.K82T	PLCB1_ENST00000378637.2_Splice_Site_p.K82T|PLCB1_ENST00000378641.3_Splice_Site_p.K82T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	82					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.K82T(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAAGCTCCCAAGGTAGGAGGT	0.448																																					p.K82T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A245C	20						.						157.0	127.0	137.0					20																	8352096		2203	4300	6503	8300096	SO:0001630	splice_region_variant	23236	exon3			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.246+1A>C	20.37:g.8352096A>C			8300096	NM_182734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337731	0.81911	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.52	5.52	0.82312	.	0.058303	0.64402	D	0.000004	T	0.75774	0.3895	M	0.88979	2.995	0.80722	D	1	B;D;D	0.63880	0.048;0.993;0.993	B;P;D	0.74023	0.034;0.849;0.982	T	0.80830	-0.1207	10	0.87932	D	0	.	13.4657	0.61251	1.0:0.0:0.0:0.0	.	82;82;81	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	T	82;82;82;81	ENSP00000367908:K82T;ENSP00000338185:K82T;ENSP00000367904:K82T;ENSP00000384001:K81T	ENSP00000338185:K82T	K	+	2	0	PLCB1	8300096	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.240000	0.65378	2.216000	0.71823	0.533000	0.62120	AAG		0.448	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		Missense_Mutation
PLCB4	5332	broad.mit.edu	37	20	9434067	9434067	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:9434067C>T	ENST00000378493.1	+	29	2933	c.2918C>T	c.(2917-2919)tCg>tTg	p.S973L	PLCB4_ENST00000378501.2_Missense_Mutation_p.S973L|PLCB4_ENST00000278655.4_Missense_Mutation_p.S973L|PLCB4_ENST00000334005.3_Missense_Mutation_p.S973L|PLCB4_ENST00000414679.2_Missense_Mutation_p.S985L|PLCB4_ENST00000378473.3_Missense_Mutation_p.S985L|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	973					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S973L(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAAGAGAAGTCGACTCATGAG	0.383																																					p.S973L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2918T	20						.						142.0	132.0	135.0					20																	9434067		2203	4300	6503	9382067	SO:0001583	missense	5332	exon29				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2918C>T	20.37:g.9434067C>T	ENSP00000367754:p.Ser973Leu		9382067	NM_000933	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	4.903	0.167811	0.09339	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.22134	2.18;2.18;1.97;1.97;2.18;1.99	5.75	2.37	0.29283	.	1.019910	0.07783	N	0.953680	T	0.05547	0.0146	N	0.00729	-1.24	0.19575	N	0.999969	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.34179	-0.9839	10	0.06494	T	0.89	.	7.1837	0.25786	0.0:0.5663:0.0:0.4337	.	985;820;973;973	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	L	973;985;973;973;973;821	ENSP00000334105:S973L;ENSP00000367734:S985L;ENSP00000278655:S973L;ENSP00000367754:S973L;ENSP00000367762:S973L;ENSP00000390616:S821L	ENSP00000278655:S973L	S	+	2	0	PLCB4	9382067	0.575000	0.26692	0.911000	0.35937	0.981000	0.71138	1.115000	0.31209	0.796000	0.33947	-0.133000	0.14855	TCG		0.383	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
PLCB4	5332	broad.mit.edu	37	20	9459604	9459604	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:9459604G>A	ENST00000378493.1	+	35	3511	c.3496G>A	c.(3496-3498)Gag>Aag	p.E1166K	PLCB4_ENST00000378501.2_Missense_Mutation_p.R1178Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.E1166K|PLCB4_ENST00000334005.3_Missense_Mutation_p.R1178Q|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1178K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1178K|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1166					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R1178Q(1)|p.R1178P(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTGGAAGCCGAGATGGACCG	0.443																																					p.R1178Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G3533A	20						.						165.0	135.0	145.0					20																	9459604		2203	4300	6503	9407604	SO:0001583	missense	5332	exon36				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3496G>A	20.37:g.9459604G>A	ENSP00000367754:p.Glu1166Lys		9407604	NM_000933	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.517836|3.517836	0.64634|0.64634	.|.	.|.	ENSG00000101333|ENSG00000101333	ENST00000378473;ENST00000278655;ENST00000378493;ENST00000414679|ENST00000334005;ENST00000378501	T;T;T;T|T;T	0.22743|0.19250	2.13;2.13;2.13;1.94|2.16;2.16	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.41396	.|D	.|0.000897	T|T	0.19927|0.19927	0.0479|0.0479	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999998|0.999998	B;P;P|D	0.51351|0.56968	0.177;0.944;0.783|0.978	B;B;B|B	0.42462|0.41412	0.012;0.388;0.079|0.356	T|T	0.02161|0.02161	-1.1203|-1.1203	8|9	0.23302|0.21540	T|T	0.38|0.41	.|.	19.5796|19.5796	0.95461|0.95461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1178;1013;1166|1178	E2QRH8;Q15147-2;Q15147|Q15147-4	.;.;PLCB4_HUMAN|.	K|Q	1178;1166;1166;1014|1178	ENSP00000367734:E1178K;ENSP00000278655:E1166K;ENSP00000367754:E1166K;ENSP00000390616:E1014K|ENSP00000334105:R1178Q;ENSP00000367762:R1178Q	ENSP00000278655:E1166K|ENSP00000334105:R1178Q	E|R	+|+	1|2	0|0	PLCB4|PLCB4	9407604|9407604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.272000|8.272000	0.89885|0.89885	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.443	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
PAK7	57144	broad.mit.edu	37	20	9561352	9561352	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:9561352C>T	ENST00000378429.3	-	5	976	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PAK7_ENST00000353224.5_Missense_Mutation_p.E144K|PAK7_ENST00000378423.1_Missense_Mutation_p.E144K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	144	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E144K(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGTACTTTTCGGTCGTGTAG	0.512																																					p.E144K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G430A	20						.						192.0	188.0	189.0					20																	9561352		2203	4300	6503	9509352	SO:0001583	missense	57144	exon4			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.430G>A	20.37:g.9561352C>T	ENSP00000367686:p.Glu144Lys		9509352	NM_177990	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	6.478	0.456446	0.12283	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.45276	0.9;0.9;0.9	5.31	5.31	0.75309	.	0.406531	0.27176	N	0.020562	T	0.32734	0.0839	L	0.40543	1.245	0.39820	D	0.972828	B;P	0.36438	0.102;0.553	B;B	0.23018	0.028;0.043	T	0.16247	-1.0409	9	.	.	.	.	18.987	0.92775	0.0:1.0:0.0:0.0	.	144;144	B0AZM9;Q9P286	.;PAK7_HUMAN	K	144;144;144;92	ENSP00000367686:E144K;ENSP00000322957:E144K;ENSP00000367679:E144K	.	E	-	1	0	PAK7	9509352	1.000000	0.71417	0.201000	0.23476	0.048000	0.14542	6.874000	0.75546	2.503000	0.84419	0.544000	0.68410	GAA		0.512	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
SLCO4A1	28231	broad.mit.edu	37	20	61299433	61299433	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr20:61299433T>G	ENST00000370507.1	+	8	1804	c.1708T>G	c.(1708-1710)Tgc>Ggc	p.C570G	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.C570G|RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	570					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGCAGGGAAATGCACTTCAAC	0.463											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.C570G	Pancreas(168;741 2006 10379 40139 45334)											.	.	0			c.T1708G	20						.						187.0	178.0	181.0					20																	61299433		2203	4300	6503	60769878	SO:0001583	missense	28231	exon9			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1708T>G	20.37:g.61299433T>G	ENSP00000359538:p.Cys570Gly	1052	60769878	NM_016354	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093796	0.76870	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674	T;T	0.60424	0.19;0.19	4.97	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89316	0.3636	10	0.87932	D	0	.	14.6308	0.68655	0.0:0.0:0.0:1.0	.	570	Q96BD0	SO4A1_HUMAN	G	570;570;570;422	ENSP00000217159:C570G;ENSP00000359538:C570G	ENSP00000217159:C570G	C	+	1	0	SLCO4A1	60769878	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.016000	0.76393	1.850000	0.53721	0.482000	0.46254	TGC		0.463	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354	
LIPI	149998	broad.mit.edu	37	21	15481367	15481367	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:15481367C>A	ENST00000536861.1	-	10	1329	c.1330G>T	c.(1330-1332)Gac>Tac	p.D444Y	AP001347.6_ENST00000428809.1_RNA|AP001347.6_ENST00000432621.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.D465Y			Q6XZB0	LIPI_HUMAN	lipase, member I	444			D -> E (in dbSNP:rs7278737). {ECO:0000269|PubMed:12719377}.		lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.D465Y(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCCTCTCTGTCTTTAAGTACA	0.343																																					p.D465Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1393T	21						.						157.0	165.0	163.0					21																	15481367		2203	4299	6502	14403238	SO:0001583	missense	149998	exon10			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1330G>T	21.37:g.15481367C>A	ENSP00000440381:p.Asp444Tyr		14403238	NM_198996	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	c	8.231	0.804662	0.16467	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.89050	-2.46;-2.41	3.7	3.7	0.42460	.	0.058071	0.64402	D	0.000003	T	0.79028	0.4377	N	0.08118	0	0.20074	N	0.999933	B	0.31040	0.305	B	0.35899	0.213	T	0.74166	-0.3753	10	0.72032	D	0.01	.	11.2548	0.49048	0.0:1.0:0.0:0.0	.	465	Q6XZB0-2	.	Y	465;444	ENSP00000343331:D465Y;ENSP00000440381:D444Y	ENSP00000343331:D465Y	D	-	1	0	LIPI	14403238	0.515000	0.26210	0.942000	0.38095	0.181000	0.23173	0.516000	0.22817	2.357000	0.79964	0.655000	0.94253	GAC		0.343	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996	
USP25	29761	broad.mit.edu	37	21	17236744	17236744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:17236744G>A	ENST00000285679.6	+	19	2864	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	USP25_ENST00000285681.2_Missense_Mutation_p.R864K|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.R902K	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	832					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.R832K(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTTGGAGATAGAAATTTGAGT	0.308																																					p.R832K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2495A	21						.						45.0	48.0	47.0					21																	17236744		2203	4299	6502	16158615	SO:0001583	missense	29761	exon19			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2495G>A	21.37:g.17236744G>A	ENSP00000285679:p.Arg832Lys		16158615	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.985207|1.985207	0.35036|0.35036	.|.	.|.	ENSG00000155313|ENSG00000155313	ENST00000449491|ENST00000285681;ENST00000285679;ENST00000400183	.|T;T;T	.|0.22743	.|1.94;1.96;1.96	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.045149	.|0.85682	.|D	.|0.000000	T|T	0.15003|0.15003	0.0362|0.0362	L|L	0.37630|0.37630	1.12|1.12	0.40891|0.40891	D|D	0.984073|0.984073	.|B;B;B	.|0.27791	.|0.043;0.009;0.189	.|B;B;B	.|0.27380	.|0.025;0.025;0.079	T|T	0.06162|0.06162	-1.0842|-1.0842	5|10	.|0.09338	.|T	.|0.73	.|.	10.7433|10.7433	0.46166|0.46166	0.1169:0.0:0.8831:0.0|0.1169:0.0:0.8831:0.0	.|.	.|902;864;832	.|Q9UHP3-3;Q9UHP3-1;Q9UHP3	.|.;.;UBP25_HUMAN	K|K	131|864;832;902	.|ENSP00000285681:R864K;ENSP00000285679:R832K;ENSP00000383044:R902K	.|ENSP00000285679:R832K	E|R	+|+	1|2	0|0	USP25|USP25	16158615|16158615	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	6.117000|6.117000	0.71577|0.71577	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.308	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
USP25	29761	broad.mit.edu	37	21	17250772	17250772	+	Missense_Mutation	SNP	G	G	A	rs549945211	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:17250772G>A	ENST00000285679.6	+	24	3515	c.3146G>A	c.(3145-3147)cGa>cAa	p.R1049Q	USP25_ENST00000285681.2_Missense_Mutation_p.R1081Q|USP25_ENST00000351097.5_Missense_Mutation_p.R444Q|USP25_ENST00000400183.2_Missense_Mutation_p.R1119Q	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	1049					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.R1049Q(2)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCCCTCAGTCGAACTCCTGCT	0.438													G|||	2	0.000399361	0.0	0.0	5008	,	,		17817	0.0		0.0	False		,,,				2504	0.002				p.R1049Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3146A	21						.						110.0	100.0	103.0					21																	17250772		2203	4300	6503	16172643	SO:0001583	missense	29761	exon24			AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.3146G>A	21.37:g.17250772G>A	ENSP00000285679:p.Arg1049Gln		16172643	NM_013396	C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560817	0.65538	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.33216	1.82;1.83;1.42;1.82	5.92	5.92	0.95590	.	0.233302	0.42821	D	0.000646	T	0.43722	0.1260	L	0.41236	1.265	0.38800	D	0.955174	D;D;D;P	0.71674	0.998;0.996;0.979;0.955	P;P;P;B	0.56563	0.759;0.801;0.638;0.357	T	0.10245	-1.0638	10	0.36615	T	0.2	-10.4026	20.3172	0.98658	0.0:0.0:1.0:0.0	.	1119;444;1081;1049	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	Q	1081;1049;444;1119	ENSP00000285681:R1081Q;ENSP00000285679:R1049Q;ENSP00000299574:R444Q;ENSP00000383044:R1119Q	ENSP00000285679:R1049Q	R	+	2	0	USP25	16172643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.325000	0.65869	2.801000	0.96364	0.650000	0.86243	CGA		0.438	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
TMPRSS15	5651	broad.mit.edu	37	21	19732147	19732147	+	Silent	SNP	G	G	A	rs145871860		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:19732147G>A	ENST00000284885.3	-	8	840	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	269	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.F269F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TAAAATCATCGAAGCTCAGTT	0.259													G|||	1	0.000199681	0.0	0.0	5008	,	,		15566	0.0		0.0	False		,,,				2504	0.001				p.F269F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807T	21						.	G		2,4352		0,2,2175	30.0	35.0	33.0		807	-3.4	0.0	21	dbSNP_134	33	1,8507		0,1,4253	no	coding-synonymous	TMPRSS15	NM_002772.2		0,3,6428	AA,AG,GG		0.0118,0.0459,0.0233		269/1020	19732147	3,12859	2177	4254	6431	18654018	SO:0001819	synonymous_variant	5651	exon8				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.807C>T	21.37:g.19732147G>A			18654018	NM_002772	Q2NKL7	Silent	SNP	ENST00000284885.3	37	CCDS13571.1																																																																																				0.259	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
NCAM2	4685	broad.mit.edu	37	21	22804553	22804553	+	Nonsense_Mutation	SNP	G	G	T	rs373091914		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:22804553G>T	ENST00000400546.1	+	12	1855	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.E394*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	536	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E536*(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGATGTCAAAGAAGTAGCGTC	0.433																																					p.E536X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1606T	21						.						90.0	87.0	88.0					21																	22804553		1879	4102	5981	21726424	SO:0001587	stop_gained	4685	exon12				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1606G>T	21.37:g.22804553G>T	ENSP00000383392:p.Glu536*		21726424	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Nonsense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	41	9.105420	0.99068	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	.	.	.	5.58	5.58	0.84498	.	0.093499	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-21.6667	18.1381	0.89627	0.0:0.0:1.0:0.0	.	.	.	.	X	536;394	.	ENSP00000284894:E394X	E	+	1	0	NCAM2	21726424	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.868000	0.87116	2.611000	0.88343	0.655000	0.94253	GAA		0.433	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
NCAM2	4685	broad.mit.edu	37	21	22849746	22849746	+	Silent	SNP	G	G	A	rs539723004		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:22849746G>A	ENST00000400546.1	+	15	2280	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	NCAM2_ENST00000284894.7_Silent_p.P535P	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	677	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P677P(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATTCTGAACCGACAGTTTATG	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16101	0.0		0.0	False		,,,				2504	0.0				p.P677P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2031A	21						.						88.0	83.0	84.0					21																	22849746		1872	4114	5986	21771617	SO:0001819	synonymous_variant	4685	exon15				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2031G>A	21.37:g.22849746G>A			21771617	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	CCDS42910.1																																																																																				0.373	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
MRPL39	54148	broad.mit.edu	37	21	26978910	26978910	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:26978910C>T	ENST00000352957.4	-	2	172	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	MRPL39_ENST00000307301.7_Missense_Mutation_p.R44Q	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	44						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R44Q(4)		endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						GAGATCATTCCGCATTTCTGT	0.393																																					p.R44Q												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G131A	21						.						84.0	81.0	82.0					21																	26978910		2203	4300	6503	25900781	SO:0001583	missense	54148	exon2			AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.131G>A	21.37:g.26978910C>T	ENSP00000284967:p.Arg44Gln		25900781	NM_017446	C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	37	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061977	0.55432	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.41758	0.99;0.99;0.99	5.46	1.29	0.21616	.	0.274046	0.37219	N	0.002196	T	0.34658	0.0905	L	0.52206	1.635	0.45946	D	0.998779	B;P	0.40875	0.375;0.731	B;B	0.37943	0.177;0.261	T	0.13791	-1.0496	10	0.62326	D	0.03	-14.6922	10.7364	0.46128	0.0:0.7137:0.0:0.2863	.	44;44	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	Q	44	ENSP00000284967:R44Q;ENSP00000305682:R44Q;ENSP00000404426:R44Q	ENSP00000305682:R44Q	R	-	2	0	MRPL39	25900781	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.177000	0.31969	0.034000	0.15491	0.591000	0.81541	CGG		0.393	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446	
GABPA	2551	broad.mit.edu	37	21	27130485	27130485	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:27130485C>A	ENST00000354828.3	+	6	1245	c.718C>A	c.(718-720)Ctc>Atc	p.L240I	GABPA_ENST00000400075.3_Missense_Mutation_p.L240I	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	240	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|in utero embryonic development (GO:0001701)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.L240I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GGGAGAAATTCTCTGGAGTCA	0.363																																					p.L240I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C718A	21						.						55.0	55.0	55.0					21																	27130485		2203	4300	6503	26052356	SO:0001583	missense	2551	exon6				CCDS13575.1	21q21-q22.1	2008-07-31	2002-08-29		ENSG00000154727	ENSG00000154727			4071	protein-coding gene	gene with protein product	"""human nuclear respiratory factor-2 subunit alpha"", ""nuclear respiratory factor 2 alpha subunit"""	600609	"""GA-binding protein transcription factor, alpha subunit (60kD)"""			8441384	Standard	NM_002040		Approved	E4TF1A, NFT2, NRF2, E4TF1-60, NRF2A	uc002yly.4	Q06546	OTTHUMG00000078443	ENST00000354828.3:c.718C>A	21.37:g.27130485C>A	ENSP00000346886:p.Leu240Ile		26052356	NM_001197297	Q12939	Missense_Mutation	SNP	ENST00000354828.3	37	CCDS13575.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634092	0.87660	.	.	ENSG00000154727	ENST00000354828;ENST00000400075	T;T	0.61040	0.14;0.14	5.29	5.29	0.74685	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.000000	0.85682	D	0.000000	T	0.77294	0.4109	M	0.90814	3.15	0.58432	D	0.999999	D	0.59357	0.985	D	0.63192	0.912	T	0.80982	-0.1139	10	0.66056	D	0.02	.	12.1164	0.53868	0.0:0.9212:0.0:0.0788	.	240	Q06546	GABPA_HUMAN	I	240	ENSP00000346886:L240I;ENSP00000382948:L240I	ENSP00000346886:L240I	L	+	1	0	GABPA	26052356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.475000	0.60210	2.762000	0.94881	0.467000	0.42956	CTC		0.363	GABPA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171365.1	NM_002040	
ADAMTS1	9510	broad.mit.edu	37	21	28212814	28212814	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:28212814G>A	ENST00000284984.3	-	5	1900	c.1446C>T	c.(1444-1446)taC>taT	p.Y482Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	482	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y482Y(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GGTTGGCATCGTACGAGGTGC	0.542																																					p.Y482Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1446T	21						.						72.0	65.0	67.0					21																	28212814		2203	4300	6503	27134685	SO:0001819	synonymous_variant	9510	exon5			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1446C>T	21.37:g.28212814G>A			27134685	NM_006988	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	CCDS33524.1																																																																																				0.542	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
ADAMTS5	11096	broad.mit.edu	37	21	28315794	28315794	+	Missense_Mutation	SNP	C	C	T	rs367992476		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:28315794C>T	ENST00000284987.5	-	3	1431	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	437	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R437H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AGACATTAAGCGCTTATCTTC	0.458																																					p.R437H	Esophageal Squamous(53;683 1080 10100 14424 45938)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1310A	21						.						118.0	102.0	108.0					21																	28315794		2203	4300	6503	27237665	SO:0001583	missense	11096	exon3			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1310G>A	21.37:g.28315794C>T	ENSP00000284987:p.Arg437His		27237665	NM_007038	Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973683	0.34848	.	.	ENSG00000154736	ENST00000284987	T	0.62941	-0.01	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.17109	0.0411	N	0.00023	-2.715	0.58432	D	0.999996	P	0.51791	0.948	B	0.37989	0.262	T	0.60845	-0.7182	10	0.02654	T	1	.	19.4373	0.94801	0.0:1.0:0.0:0.0	.	437	Q9UNA0	ATS5_HUMAN	H	437	ENSP00000284987:R437H	ENSP00000284987:R437H	R	-	2	0	ADAMTS5	27237665	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.564000	0.67359	2.828000	0.97474	0.650000	0.86243	CGC		0.458	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1		
LTN1	26046	broad.mit.edu	37	21	30318238	30318238	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:30318238A>G	ENST00000361371.5	-	21	3738	c.3659T>C	c.(3658-3660)gTa>gCa	p.V1220A	LTN1_ENST00000389194.2_Missense_Mutation_p.V1266A			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1220					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V1220A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTCTATATTTACACCCAGTAC	0.363																																					p.V1266A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3797C	21						.						94.0	102.0	100.0					21																	30318238		2203	4300	6503	29240109	SO:0001583	missense	26046	exon21			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3659T>C	21.37:g.30318238A>G	ENSP00000354977:p.Val1220Ala		29240109	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	A	16.64	3.180177	0.57800	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.18657	2.2;2.21	5.0	5.0	0.66597	.	0.472295	0.20564	N	0.089855	T	0.12603	0.0306	N	0.08118	0	0.28593	N	0.909521	B	0.23937	0.094	B	0.14023	0.01	T	0.12319	-1.0552	10	0.59425	D	0.04	.	14.8695	0.70444	1.0:0.0:0.0:0.0	.	1220	O94822	LTN1_HUMAN	A	1266;1220	ENSP00000373846:V1266A;ENSP00000354977:V1220A	ENSP00000354977:V1220A	V	-	2	0	LTN1	29240109	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	8.187000	0.89708	2.099000	0.63709	0.482000	0.46254	GTA		0.363	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
LTN1	26046	broad.mit.edu	37	21	30338724	30338724	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:30338724C>T	ENST00000361371.5	-	10	2168	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	LTN1_ENST00000389195.2_Missense_Mutation_p.E743K|LTN1_ENST00000389194.2_Missense_Mutation_p.E743K			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	697					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E697K(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTTTTTCTTTCCATATCATTG	0.368																																					p.E743K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2227A	21						.						89.0	91.0	90.0					21																	30338724		2203	4300	6503	29260595	SO:0001583	missense	26046	exon10			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2089G>A	21.37:g.30338724C>T	ENSP00000354977:p.Glu697Lys		29260595	NM_015565	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37		.	.	.	.	.	.	.	.	.	.	C	33	5.258947	0.95368	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	T;T;T	0.68624	2.06;2.07;-0.34	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	L	0.34521	1.04	0.58432	D	0.999998	D	0.67145	0.996	P	0.60541	0.876	T	0.74432	-0.3667	10	0.59425	D	0.04	.	19.1372	0.93433	0.0:1.0:0.0:0.0	.	697	O94822	LTN1_HUMAN	K	743;697;743	ENSP00000373846:E743K;ENSP00000354977:E697K;ENSP00000373847:E743K	ENSP00000354977:E697K	E	-	1	0	LTN1	29260595	0.999000	0.42202	0.973000	0.42090	0.967000	0.64934	4.622000	0.61240	2.827000	0.97445	0.650000	0.86243	GAA		0.368	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
USP16	10600	broad.mit.edu	37	21	30411452	30411452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:30411452G>T	ENST00000334352.4	+	9	1069	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	USP16_ENST00000399976.2_Nonsense_Mutation_p.E280*|USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Nonsense_Mutation_p.E279*	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.E280*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GACACCGAAAGAACTCTTTTC	0.388																																					p.E279X	Melanoma(92;625 1444 27493 34101 44971)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G835T	21						.						69.0	72.0	71.0					21																	30411452		2203	4300	6503	29333323	SO:0001587	stop_gained	10600	exon8			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.838G>T	21.37:g.30411452G>T	ENSP00000334808:p.Glu280*		29333323	NM_001001992		Nonsense_Mutation	SNP	ENST00000334352.4	37	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	38	7.008794	0.97998	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	.	.	.	5.82	4.88	0.63580	.	0.044310	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	15.7234	0.77732	0.0:0.0:0.8628:0.1372	.	.	.	.	X	279;280;280	.	ENSP00000334808:E280X	E	+	1	0	USP16	29333323	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.267000	0.65530	2.759000	0.94783	0.555000	0.69702	GAA		0.388	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1		
GRIK1	2897	broad.mit.edu	37	21	30949360	30949360	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:30949360G>A	ENST00000399907.1	-	14	2465	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	GRIK1_ENST00000327783.4_Missense_Mutation_p.S685L|GRIK1_ENST00000535441.1_Missense_Mutation_p.S687L|GRIK1_ENST00000389124.2_Missense_Mutation_p.S685L|GRIK1_ENST00000399909.1_Missense_Mutation_p.S670L|GRIK1_ENST00000399914.1_Missense_Mutation_p.S670L|GRIK1_ENST00000399913.1_Missense_Mutation_p.S685L|GRIK1_ENST00000309434.7_Missense_Mutation_p.S687L|GRIK1_ENST00000389125.3_Missense_Mutation_p.S670L	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	685					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.S670L(1)|p.S685L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	ATCATCTGCCGAATCTATGGG	0.453																																					p.S670L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2009T	21						.						117.0	113.0	114.0					21																	30949360		2203	4300	6503	29871231	SO:0001583	missense	2897	exon13				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2054C>T	21.37:g.30949360G>A	ENSP00000382791:p.Ser685Leu		29871231	NM_175611	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160040	0.94727	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44;2.44	5.3	5.3	0.74995	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	H	0.94620	3.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.982;0.982;0.982;0.97	T	0.68247	-0.5459	10	0.87932	D	0	.	18.7417	0.91775	0.0:0.0:1.0:0.0	.	670;685;685;670	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	L	685;670;685;670;687;546;685;685;670;687	ENSP00000327687:S685L;ENSP00000373777:S670L;ENSP00000382797:S685L;ENSP00000382798:S670L;ENSP00000446326:S687L;ENSP00000373776:S685L;ENSP00000382791:S685L;ENSP00000382793:S670L;ENSP00000311646:S687L	ENSP00000311646:S687L	S	-	2	0	GRIK1	29871231	1.000000	0.71417	0.949000	0.38748	0.970000	0.65996	9.583000	0.98217	2.765000	0.95021	0.650000	0.86243	TCG		0.453	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1		
CLDN17	26285	broad.mit.edu	37	21	31538769	31538769	+	Missense_Mutation	SNP	C	C	T	rs139360624	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:31538769C>T	ENST00000286808.3	-	1	202	c.167G>A	c.(166-168)cGa>cAa	p.R56Q		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	56					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.R56Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CCTGGCTTGTCGGATGCAATT	0.547													C|||	2	0.000399361	0.0	0.0	5008	,	,		18275	0.002		0.0	False		,,,				2504	0.0				p.R56Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	21						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	83.0	81.0		167	1.9	0.6	21	dbSNP_134	81	0,8600		0,0,4300	yes	missense	CLDN17	NM_012131.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	56/225	31538769	1,13005	2203	4300	6503	30460640	SO:0001583	missense	26285	exon1			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.167G>A	21.37:g.31538769C>T	ENSP00000286808:p.Arg56Gln		30460640	NM_012131	Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	CCDS13586.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	C	11.20	1.568098	0.28003	2.27E-4	0.0	ENSG00000156282	ENST00000286808	D	0.88509	-2.39	5.22	1.92	0.25849	Claudin, conserved site (1);	0.114460	0.56097	N	0.000029	T	0.80555	0.4645	L	0.31664	0.95	0.28904	N	0.893114	B	0.16396	0.017	B	0.19946	0.027	T	0.69011	-0.5258	10	0.28530	T	0.3	.	10.0527	0.42225	0.0:0.7238:0.0:0.2762	.	56	P56750	CLD17_HUMAN	Q	56	ENSP00000286808:R56Q	ENSP00000286808:R56Q	R	-	2	0	CLDN17	30460640	0.000000	0.05858	0.588000	0.28705	0.979000	0.70002	-0.539000	0.06113	0.645000	0.30675	-0.137000	0.14449	CGA		0.547	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	NM_012131	
KRTAP15-1	254950	broad.mit.edu	37	21	31812882	31812882	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:31812882G>T	ENST00000334067.3	+	1	286	c.237G>T	c.(235-237)aaG>aaT	p.K79N		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	79						intermediate filament (GO:0005882)		p.K79N(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ACTGCCCAAAGAATTCCATCT	0.517																																					p.K79N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	21						.						136.0	127.0	130.0					21																	31812882		2203	4300	6503	30734753	SO:0001583	missense	254950	exon1			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.237G>T	21.37:g.31812882G>T	ENSP00000334866:p.Lys79Asn		30734753	NM_181623	Q2M3F4	Missense_Mutation	SNP	ENST00000334067.3	37	CCDS13593.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.643953	0.29246	.	.	ENSG00000186970	ENST00000334067	T	0.03212	4.01	4.55	0.596	0.17496	.	1.044190	0.07575	N	0.919251	T	0.04272	0.0118	L	0.47716	1.5	0.09310	N	1	B	0.21225	0.053	B	0.25291	0.059	T	0.47509	-0.9112	10	0.72032	D	0.01	-2.0721	1.7554	0.02981	0.1815:0.1601:0.4932:0.1651	.	79	Q3LI76	KR151_HUMAN	N	79	ENSP00000334866:K79N	ENSP00000334866:K79N	K	+	3	2	KRTAP15-1	30734753	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.096000	0.15147	0.096000	0.17463	-0.175000	0.13238	AAG		0.517	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128236.1		
KRTAP19-1	337882	broad.mit.edu	37	21	31852583	31852583	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:31852583G>A	ENST00000390689.2	-	1	80	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	18	26 X 2 AA repeats of G-[YCGS].					intermediate filament (GO:0005882)		p.F18F(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CCAGGCCACCGAAGCCTCCAC	0.572																																					p.F18F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C54T	21						.						149.0	150.0	150.0					21																	31852583		2203	4300	6503	30774454	SO:0001819	synonymous_variant	337882	exon1			AJ457067	CCDS13594.1	21q22.1	2010-03-10			ENSG00000184351	ENSG00000184351		"""Keratin associated proteins"""	18936	protein-coding gene	gene with protein product						12359730	Standard	NM_181607		Approved	KAP19.1	uc011acx.2	Q8IUB9	OTTHUMG00000057768	ENST00000390689.2:c.54C>T	21.37:g.31852583G>A			30774454	NM_181607	A4QN27|Q3LI75	Silent	SNP	ENST00000390689.2	37	CCDS13594.1																																																																																				0.572	KRTAP19-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128220.2		
KRTAP19-3	337970	broad.mit.edu	37	21	31864229	31864229	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:31864229C>G	ENST00000334063.4	-	1	46	c.47G>C	c.(46-48)gGa>gCa	p.G16A		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	16						intermediate filament (GO:0005882)		p.G16A(1)		large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						ACCAAAGCCTCCACAGCCATA	0.577																																					p.G16A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G47C	21						.						154.0	150.0	151.0					21																	31864229		2203	4300	6503	30786100	SO:0001583	missense	337970	exon1			AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.47G>C	21.37:g.31864229C>G	ENSP00000386376:p.Gly16Ala		30786100	NM_181609		Missense_Mutation	SNP	ENST00000334063.4	37	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564882	0.27915	.	.	ENSG00000244025	ENST00000334063	T	0.13657	2.57	4.68	3.77	0.43336	.	.	.	.	.	T	0.32406	0.0828	.	.	.	0.33314	D	0.566502	D	0.61697	0.99	D	0.63793	0.918	T	0.49661	-0.8916	8	0.87932	D	0	.	11.283	0.49206	0.0:0.8145:0.1855:0.0	.	16	Q7Z4W3	KR193_HUMAN	A	16	ENSP00000386376:G16A	ENSP00000386376:G16A	G	-	2	0	KRTAP19-3	30786100	0.008000	0.16893	0.701000	0.30321	0.033000	0.12548	0.536000	0.23129	1.245000	0.43885	0.591000	0.81541	GGA		0.577	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2		
KRTAP19-4	337971	broad.mit.edu	37	21	31869357	31869357	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:31869357G>T	ENST00000334058.2	-	1	94	c.72C>A	c.(70-72)ggC>ggA	p.G24G		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	24						intermediate filament (GO:0005882)		p.G24G(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CACAGCCATAGCCATAGCCTA	0.557																																					p.G24G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C72A	21						.						138.0	140.0	139.0					21																	31869357		2203	4300	6503	30791228	SO:0001819	synonymous_variant	337971	exon1			AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.72C>A	21.37:g.31869357G>T			30791228	NM_181610	Q17RT4|Q17RT6	Silent	SNP	ENST00000334058.2	37	CCDS33534.1																																																																																				0.557	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2		
TIAM1	7074	broad.mit.edu	37	21	32508252	32508252	+	Splice_Site	SNP	G	G	A	rs567504389		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:32508252G>A	ENST00000286827.3	-	24	4353	c.3882C>T	c.(3880-3882)ttC>ttT	p.F1294F	TIAM1_ENST00000541036.1_Splice_Site_p.F1234F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1294	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F1294F(4)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GATACACACCGAATGCTGCCA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16872	0.0		0.0	False		,,,				2504	0.0				p.F1294F												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C3882T	21						.						106.0	100.0	102.0					21																	32508252		2203	4300	6503	31430123	SO:0001630	splice_region_variant	7074	exon24				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3883+1C>T	21.37:g.32508252G>A			31430123	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.448	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	Silent
TIAM1	7074	broad.mit.edu	37	21	32567612	32567612	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:32567612C>A	ENST00000286827.3	-	14	2974	c.2503G>T	c.(2503-2505)Gaa>Taa	p.E835*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.E775*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	835					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E835*(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATTTCAATTTCTTTGTACAGC	0.299																																					p.E835X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2503T	21						.						107.0	98.0	101.0					21																	32567612		2203	4300	6503	31489483	SO:0001587	stop_gained	7074	exon14				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2503G>T	21.37:g.32567612C>A	ENSP00000286827:p.Glu835*		31489483	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Nonsense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	46	12.136386	0.99639	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.166	0.93557	0.0:1.0:0.0:0.0	.	.	.	.	X	835;676;775	.	ENSP00000286827:E835X	E	-	1	0	TIAM1	31489483	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.319000	0.65835	2.709000	0.92574	0.655000	0.94253	GAA		0.299	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
TIAM1	7074	broad.mit.edu	37	21	32624316	32624316	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:32624316C>T	ENST00000286827.3	-	6	1624	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.E385K	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	385					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E385K(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGGAAGTTCTCGTACACCCCC	0.677																																					p.E385K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1153A	21						.						48.0	56.0	53.0					21																	32624316		2203	4299	6502	31546187	SO:0001583	missense	7074	exon6				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1153G>A	21.37:g.32624316C>T	ENSP00000286827:p.Glu385Lys		31546187	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452354	0.96223	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.52295	0.67;0.67	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.986;0.986	T	0.70371	-0.4890	10	0.72032	D	0.01	.	18.1782	0.89768	0.0:1.0:0.0:0.0	.	385;385;385	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	K	385;226;385	ENSP00000286827:E385K;ENSP00000441570:E385K	ENSP00000286827:E385K	E	-	1	0	TIAM1	31546187	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.186000	0.77722	2.497000	0.84241	0.655000	0.94253	GAG		0.677	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
SYNJ1	8867	broad.mit.edu	37	21	34012087	34012087	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:34012087C>T	ENST00000322229.7	-	29	3590	c.3591G>A	c.(3589-3591)acG>acA	p.T1197T	SYNJ1_ENST00000382491.3_Silent_p.T1150T|SYNJ1_ENST00000382499.2_Silent_p.T1236T|SYNJ1_ENST00000433931.2_Silent_p.T1236T|SYNJ1_ENST00000357345.3_Silent_p.T1181T			O43426	SYNJ1_HUMAN	synaptojanin 1	1197	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.T1197T(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GAGGAGGAATCGTCTACAGAT	0.438																																					p.T1236T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3708A	21						.						80.0	68.0	72.0					21																	34012087		2203	4300	6503	32933958	SO:0001819	synonymous_variant	8867	exon30			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3591G>A	21.37:g.34012087C>T			32933958	NM_003895	O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.018|1.018	-0.685618|-0.685618	0.03328|0.03328	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000438952;ENST00000416083|ENST00000418301	.|.	.|.	.|.	5.27|5.27	-10.5|-10.5	0.00291|0.00291	.|.	.|.	.|.	.|.	.|.	T|T	0.31482|0.31482	0.0798|0.0798	.|.	.|.	.|.	0.45354|0.45354	D|D	0.998343|0.998343	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39354|0.39354	-0.9618|-0.9618	4|4	.|.	.|.	.|.	.|.	1.4074|1.4074	0.02283|0.02283	0.2124:0.3107:0.2839:0.193|0.2124:0.3107:0.2839:0.193	.|.	.|.	.|.	.|.	N|Q	73;50|18	.|.	.|.	D|R	-|-	1|2	0|0	SYNJ1|SYNJ1	32933958|32933958	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.090000|0.090000	0.18270|0.18270	-0.676000|-0.676000	0.05221|0.05221	-1.940000|-1.940000	0.01043|0.01043	-0.355000|-0.355000	0.07637|0.07637	GAT|CGA		0.438	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
PAXBP1	94104	broad.mit.edu	37	21	34142146	34142146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:34142146C>A	ENST00000331923.4	-	2	640	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Nonsense_Mutation_p.E151*|C21orf49_ENST00000382375.4_5'Flank|C21orf49_ENST00000453404.1_5'Flank|C21orf49_ENST00000382378.1_5'Flank|C21orf49_ENST00000477513.1_5'Flank	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	151					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E151*(1)									GAGTTGAGTTCTGTCTTAATC	0.299																																					p.E151X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G451T	21						.						164.0	145.0	151.0					21																	34142146		2202	4297	6499	33064017	SO:0001587	stop_gained	94104	exon2			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.451G>T	21.37:g.34142146C>A	ENSP00000328992:p.Glu151*		33064017	NM_013329	D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259154	0.95368	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	.	.	.	5.28	5.28	0.74379	.	0.252044	0.40064	N	0.001182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-17.3933	13.5062	0.61485	0.1561:0.8439:0.0:0.0	.	.	.	.	X	151	.	ENSP00000290178:E151X	E	-	1	0	GCFC1	33064017	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.711000	0.54868	2.475000	0.83589	0.650000	0.86243	GAA		0.299	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	
IL10RB	3588	broad.mit.edu	37	21	34655492	34655492	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:34655492C>T	ENST00000290200.2	+	5	700	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	AP000295.9_ENST00000433395.2_Silent_p.I325I	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	198	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R198W(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TCTTCCTGATCGGAACAAAGC	0.468																																					p.R198W	Melanoma(67;315 1275 21667 21943 44564)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C592T	21						.						141.0	126.0	131.0					21																	34655492		2203	4300	6503	33577362	SO:0001583	missense	3588	exon5			U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.592C>T	21.37:g.34655492C>T	ENSP00000290200:p.Arg198Trp		33577362	NM_000628	Q9BUU4	Missense_Mutation	SNP	ENST00000290200.2	37	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316480	0.23908	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.46063	0.88	5.39	-3.79	0.04320	Fibronectin, type III (2);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	1.085690	0.06992	N	0.821821	T	0.25531	0.0621	N	0.25890	0.77	0.09310	N	1	B;B;B;B	0.24483	0.104;0.051;0.051;0.03	B;B;B;B	0.15484	0.011;0.013;0.008;0.006	T	0.22977	-1.0201	10	0.37606	T	0.19	-10.6272	7.2999	0.26413	0.5472:0.3082:0.0:0.1446	.	200;198;198;198	Q6ZVU9;Q08334;B4DSX5;F5H766	.;I10R2_HUMAN;.;.	W	198	ENSP00000290200:R198W	ENSP00000290200:R198W	R	+	1	2	IL10RB	33577362	0.004000	0.15560	0.001000	0.08648	0.653000	0.38743	0.006000	0.13152	-0.525000	0.06391	-1.157000	0.01802	CGG		0.468	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3		
IFNGR2	3460	broad.mit.edu	37	21	34793927	34793927	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:34793927G>A	ENST00000290219.6	+	3	995	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	IFNGR2_ENST00000405436.1_Missense_Mutation_p.R37Q|IFNGR2_ENST00000381995.1_Missense_Mutation_p.R135Q	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	116	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	interferon-gamma receptor activity (GO:0004906)	p.R116Q(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTACGCCTTCGAGCTGAGCTG	0.488																																					p.R116Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347A	21						.						169.0	142.0	151.0					21																	34793927		2203	4300	6503	33715797	SO:0001583	missense	3460	exon3				CCDS33544.1	21q22.1	2014-09-17			ENSG00000159128	ENSG00000159128		"""Interferons"", ""Fibronectin type III domain containing"""	5440	protein-coding gene	gene with protein product		147569		IFNGT1		3136170	Standard	NM_005534		Approved	AF-1	uc002yrp.4	P38484	OTTHUMG00000065188	ENST00000290219.6:c.347G>A	21.37:g.34793927G>A	ENSP00000290219:p.Arg116Gln		33715797	NM_005534	Q9BTL5	Missense_Mutation	SNP	ENST00000290219.6	37	CCDS33544.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381711	0.61845	.	.	ENSG00000159128	ENST00000290219;ENST00000381995;ENST00000405436	T;T;T	0.76448	-1.02;-1.02;-1.02	4.53	0.46	0.16684	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.229373	0.34088	N	0.004274	T	0.76842	0.4044	M	0.68952	2.095	0.09310	N	0.999997	D;P	0.57571	0.98;0.955	P;P	0.52343	0.696;0.506	T	0.66681	-0.5862	10	0.32370	T	0.25	-1.5606	6.5792	0.22583	0.4681:0.0:0.5319:0.0	.	135;116	E7EUY1;P38484	.;INGR2_HUMAN	Q	116;135;37	ENSP00000290219:R116Q;ENSP00000371425:R135Q;ENSP00000385044:R37Q	ENSP00000290219:R116Q	R	+	2	0	IFNGR2	33715797	0.004000	0.15560	0.003000	0.11579	0.174000	0.22865	0.152000	0.16302	-0.023000	0.13963	-0.140000	0.14226	CGA		0.488	IFNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139916.1		
DNAJC28	54943	broad.mit.edu	37	21	34861392	34861392	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:34861392G>T	ENST00000314399.3	-	2	747	c.309C>A	c.(307-309)ctC>ctA	p.L103L	DNAJC28_ENST00000381947.3_Silent_p.L103L|DNAJC28_ENST00000402202.1_Silent_p.L103L	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	103	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.							p.L103L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						TCACATGGGAGAGCACCTTTC	0.363																																					p.L103L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C309A	21						.						125.0	113.0	117.0					21																	34861392		2203	4300	6503	33783262	SO:0001819	synonymous_variant	54943	exon2			AK000468	CCDS13626.1	21q22.11	2011-09-02	2008-06-17	2008-06-17	ENSG00000177692	ENSG00000177692		"""Heat shock proteins / DNAJ (HSP40)"""	1297	protein-coding gene	gene with protein product	"""Orf28"""		"""chromosome 21 open reading frame 55"""	C21orf55			Standard	NM_017833		Approved	C21orf78	uc002yrw.3	Q9NX36	OTTHUMG00000065531	ENST00000314399.3:c.309C>A	21.37:g.34861392G>T			33783262	NM_001040192	D3DSF2	Silent	SNP	ENST00000314399.3	37	CCDS13626.1																																																																																				0.363	DNAJC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140454.3		
ITSN1	6453	broad.mit.edu	37	21	35138281	35138281	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:35138281T>G	ENST00000381318.3	+	10	1179	c.891T>G	c.(889-891)ccT>ccG	p.P297P	ITSN1_ENST00000399338.4_Silent_p.P297P|ITSN1_ENST00000399353.1_Silent_p.P260P|ITSN1_ENST00000399349.1_Silent_p.P297P|ITSN1_ENST00000437442.2_Silent_p.P297P|ITSN1_ENST00000379960.5_Silent_p.P297P|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399367.3_Silent_p.P297P|ITSN1_ENST00000381285.4_Silent_p.P297P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Silent_p.P297P|ITSN1_ENST00000399355.2_Silent_p.P297P|ITSN1_ENST00000399352.1_Silent_p.P297P|ITSN1_ENST00000399326.3_Silent_p.P297P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	297	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P297P(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CACTGCCACCTGTCCTGCCTC	0.428																																					p.P297P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T891G	21						.						106.0	85.0	92.0					21																	35138281		2203	4300	6503	34060151	SO:0001819	synonymous_variant	6453	exon10			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.891T>G	21.37:g.35138281T>G			34060151	NM_001001132	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	CCDS33545.1																																																																																				0.428	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
MRPS6	64968	broad.mit.edu	37	21	35497666	35497666	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:35497666G>A	ENST00000399312.2	+	2	249	c.71G>A	c.(70-72)cGt>cAt	p.R24H	MRPS6_ENST00000482679.1_3'UTR|AP000320.7_ENST00000362077.4_RNA	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	24					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.R24H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						ACTTTGAAACGTACGATAGAG	0.418																																					p.R24H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G71A	21						.						140.0	146.0	144.0					21																	35497666		2203	4300	6503	34419536	SO:0001583	missense	64968	exon2			AB051347	CCDS33548.1	21q22.11	2012-09-13	2002-06-20		ENSG00000243927	ENSG00000243927		"""Mitochondrial ribosomal proteins / small subunits"""	14051	protein-coding gene	gene with protein product		611973	"""chromosome 21 open reading frame 101"""	C21orf101			Standard	NM_032476		Approved	MRP-S6, RPMS6	uc002ytp.2	P82932	OTTHUMG00000065820	ENST00000399312.2:c.71G>A	21.37:g.35497666G>A	ENSP00000382250:p.Arg24His		34419536	NM_032476	B2R573|Q96Q64|Q9BSK8|Q9BW89	Missense_Mutation	SNP	ENST00000399312.2	37	CCDS33548.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074859	0.94000	.	.	ENSG00000243927	ENST00000399312	.	.	.	5.19	5.19	0.71726	Translation elongation factor EF1B/ribosomal protein S6 (1);	0.000000	0.64402	U	0.000017	D	0.85212	0.5645	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87454	0.2403	9	0.59425	D	0.04	.	17.6524	0.88168	0.0:0.0:1.0:0.0	.	24	P82932	RT06_HUMAN	H	24	.	ENSP00000382250:R24H	R	+	2	0	MRPS6	34419536	1.000000	0.71417	0.957000	0.39632	0.978000	0.69477	8.496000	0.90485	2.686000	0.91538	0.650000	0.86243	CGT		0.418	MRPS6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141033.1	NM_032476	
KCNE1	3753	broad.mit.edu	37	21	35821910	35821910	+	Missense_Mutation	SNP	G	G	A	rs199473348		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:35821910G>A	ENST00000337385.3	-	3	398	c.23C>T	c.(22-24)gCg>gTg	p.A8V	KCNE1_ENST00000399286.2_Missense_Mutation_p.A8V|KCNE1_ENST00000399284.1_Missense_Mutation_p.A8V|KCNE1_ENST00000432085.1_Missense_Mutation_p.A8V|KCNE1_ENST00000416357.2_Missense_Mutation_p.A8V|KCNE1_ENST00000399289.3_Missense_Mutation_p.A8V	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	8					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)	p.A8V(1)		large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	GGGCGTCACCGCTGTGGTGTT	0.572																																					p.A8V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C23T	21	GRCh37	CM074909	KCNE1	M		.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	43.0	41.0	42.0		23,23,23,23	0.9	0.0	21		42	0,8600		0,0,4300	no	missense,missense,missense,missense	KCNE1	NM_001127670.1,NM_001127669.1,NM_001127668.1,NM_000219.3	64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	8/130,8/130,8/130,8/130	35821910	1,13005	2203	4300	6503	34743780	SO:0001583	missense	3753	exon3			L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.23C>T	21.37:g.35821910G>A	ENSP00000337255:p.Ala8Val		34743780	NM_001127668	A5H1P2|Q8N709|Q91Z94	Missense_Mutation	SNP	ENST00000337385.3	37	CCDS13636.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049377	0.36181	2.27E-4	0.0	ENSG00000180509	ENST00000399289;ENST00000337385;ENST00000432085;ENST00000399286;ENST00000416357;ENST00000399284	D;D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26;-3.26	4.82	0.937	0.19494	.	0.414694	0.25050	N	0.033539	D	0.90212	0.6940	M	0.73598	2.24	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.81790	-0.0771	10	0.54805	T	0.06	-3.0841	5.2163	0.15344	0.2317:0.0:0.627:0.1413	.	8	P15382	KCNE1_HUMAN	V	8	ENSP00000382228:A8V;ENSP00000337255:A8V;ENSP00000412498:A8V;ENSP00000382226:A8V;ENSP00000416258:A8V;ENSP00000382225:A8V	ENSP00000337255:A8V	A	-	2	0	KCNE1	34743780	0.011000	0.17503	0.000000	0.03702	0.003000	0.03518	1.360000	0.34125	-0.035000	0.13691	-0.971000	0.02607	GCG		0.572	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1		
CBR3	874	broad.mit.edu	37	21	37510214	37510214	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:37510214G>A	ENST00000290354.5	+	2	662	c.381G>A	c.(379-381)ccG>ccA	p.P127P	CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608641.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	127					cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)	p.P127P(1)		kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	AGTTACTGCCGATAATGAAAC	0.473																																					p.P127P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G381A	21						.						133.0	124.0	127.0					21																	37510214		2203	4300	6503	36432084	SO:0001819	synonymous_variant	874	exon2			AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617	ENST00000290354.5:c.381G>A	21.37:g.37510214G>A			36432084	NM_001236	Q6FHP2	Silent	SNP	ENST00000290354.5	37	CCDS13642.1																																																																																				0.473	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194632.1		
DOPEY2	9980	broad.mit.edu	37	21	37623478	37623478	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:37623478T>G	ENST00000399151.3	+	22	5102	c.5017T>G	c.(5017-5019)Tta>Gta	p.L1673V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1673					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.L1673V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACAAAAAATTTTAGACTTCTT	0.443																																					p.L1673V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5017G	21						.						71.0	79.0	76.0					21																	37623478		2203	4300	6503	36545348	SO:0001583	missense	9980	exon22			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.5017T>G	21.37:g.37623478T>G	ENSP00000382104:p.Leu1673Val		36545348	NM_005128	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	T	18.11	3.551435	0.65311	.	.	ENSG00000142197	ENST00000399151	T	0.24723	1.84	5.95	2.36	0.29203	.	0.000000	0.64402	D	0.000001	T	0.51024	0.1650	M	0.85542	2.76	0.47547	D	0.999454	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.50541	-0.8816	10	0.66056	D	0.02	-13.3472	9.9269	0.41498	0.0:0.4442:0.0:0.5558	.	1673;1673	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	V	1673	ENSP00000382104:L1673V	ENSP00000382104:L1673V	L	+	1	2	DOPEY2	36545348	0.946000	0.32159	0.808000	0.32385	0.977000	0.68977	0.908000	0.28545	0.173000	0.19788	0.533000	0.62120	TTA		0.443	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1	NM_005128	
MORC3	23515	broad.mit.edu	37	21	37711184	37711184	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:37711184G>T	ENST00000400485.1	+	5	649	c.573G>T	c.(571-573)aaG>aaT	p.K191N	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	191					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.K191N(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTATAGGCAAGAAGGGGACGA	0.438																																					p.K191N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G573T	21						.						190.0	168.0	175.0					21																	37711184		1952	4145	6097	36633054	SO:0001583	missense	23515	exon5			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.573G>T	21.37:g.37711184G>T	ENSP00000383333:p.Lys191Asn		36633054	NM_015358	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910468	0.52439	.	.	ENSG00000159256	ENST00000400485	T	0.73363	-0.74	5.55	4.55	0.56014	ATPase-like, ATP-binding domain (2);	0.233890	0.43579	D	0.000541	T	0.62109	0.2401	L	0.49640	1.575	0.44424	D	0.99734	B	0.13145	0.007	B	0.12837	0.008	T	0.58103	-0.7695	9	.	.	.	-15.5701	3.8469	0.08939	0.3352:0.0:0.6648:0.0	.	191	Q14149	MORC3_HUMAN	N	191	ENSP00000383333:K191N	.	K	+	3	2	MORC3	36633054	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.325000	0.33724	2.606000	0.88127	0.591000	0.81541	AAG		0.438	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	
MORC3	23515	broad.mit.edu	37	21	37742118	37742118	+	Missense_Mutation	SNP	G	G	A	rs371024073		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:37742118G>A	ENST00000400485.1	+	15	2528	c.2452G>A	c.(2452-2454)Gat>Aat	p.D818N	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	818					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.D818N(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GCAGCTTGACGATGTGTTTAG	0.418																																					p.D818N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2452A	21						.	G	ASN/ASP	1,4069		0,1,2034	141.0	133.0	136.0		2452	4.7	0.1	21		136	0,8386		0,0,4193	no	missense	MORC3	NM_015358.2	23	0,1,6227	AA,AG,GG		0.0,0.0246,0.0080	possibly-damaging	818/940	37742118	1,12455	2035	4193	6228	36663988	SO:0001583	missense	23515	exon15			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2452G>A	21.37:g.37742118G>A	ENSP00000383333:p.Asp818Asn		36663988	NM_015358	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939282	0.52972	2.46E-4	0.0	ENSG00000159256	ENST00000400485	T	0.14266	2.52	5.56	4.66	0.58398	.	0.445708	0.26373	N	0.024754	T	0.11153	0.0272	L	0.59436	1.845	0.24583	N	0.993861	P	0.43607	0.812	B	0.36567	0.228	T	0.11446	-1.0587	10	0.06891	T	0.86	-15.5934	9.7286	0.40348	0.0732:0.142:0.7848:0.0	.	818	Q14149	MORC3_HUMAN	N	818	ENSP00000383333:D818N	ENSP00000383333:D818N	D	+	1	0	MORC3	36663988	0.607000	0.26958	0.080000	0.20451	0.951000	0.60555	2.011000	0.40922	1.295000	0.44724	0.655000	0.94253	GAT		0.418	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	
TTC3	7267	broad.mit.edu	37	21	38536358	38536358	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:38536358G>A	ENST00000399017.2	+	32	5923	c.3176G>A	c.(3175-3177)cGa>cAa	p.R1059Q	TTC3_ENST00000354749.2_Missense_Mutation_p.R1059Q|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.R1059Q	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1059					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1059Q(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ACCAGCAATCGAAATTCAGAT	0.363																																					p.R1059Q	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3176A	21						.						113.0	107.0	109.0					21																	38536358		2203	4300	6503	37458228	SO:0001583	missense	7267	exon32			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3176G>A	21.37:g.38536358G>A	ENSP00000381981:p.Arg1059Gln		37458228	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.07|12.07	1.828692|1.828692	0.32329|0.32329	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000411496|ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	.|T;T;T;T;T	.|0.13778	.|2.56;2.56;2.87;2.87;2.87	4.92|4.92	1.91|1.91	0.25777|0.25777	.|.	.|0.614990	.|0.14406	.|N	.|0.321541	T|T	0.12135|0.12135	0.0295|0.0295	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18968	.|0.032;0.004	.|B;B	.|0.16722	.|0.016;0.001	T|T	0.27226|0.27226	-1.0080|-1.0080	5|10	.|0.18710	.|T	.|0.47	-0.8027|-0.8027	4.8719|4.8719	0.13637|0.13637	0.0874:0.1451:0.6187:0.1487|0.0874:0.1451:0.6187:0.1487	rs1133018;rs3194415|rs1133018;rs3194415	.|117;1059	.|Q5GIT6;P53804	.|.;TTC3_HUMAN	K|Q	215|1059;1041;1059;1059;1059	.|ENSP00000403943:R1059Q;ENSP00000391891:R1041Q;ENSP00000347889:R1059Q;ENSP00000381981:R1059Q;ENSP00000346791:R1059Q	.|ENSP00000346791:R1059Q	E|R	+|+	1|2	0|0	TTC3|TTC3	37458228|37458228	0.012000|0.012000	0.17670|0.17670	0.390000|0.390000	0.26220|0.26220	0.738000|0.738000	0.42128|0.42128	0.137000|0.137000	0.15995|0.15995	1.212000|1.212000	0.43366|0.43366	-0.229000|-0.229000	0.12294|0.12294	GAA|CGA		0.363	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
TTC3	7267	broad.mit.edu	37	21	38538153	38538153	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:38538153G>A	ENST00000399017.2	+	33	6384	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	TTC3_ENST00000354749.2_Missense_Mutation_p.E1213K|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.E1213K	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1213					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E1213K(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGCTGCTAGGGAATTTAAACC	0.363																																					p.E1213K	Ovarian(38;194 1649 35661)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3637A	21						.						76.0	81.0	79.0					21																	38538153		2203	4300	6503	37460023	SO:0001583	missense	7267	exon33			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3637G>A	21.37:g.38538153G>A	ENSP00000381981:p.Glu1213Lys		37460023	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473673	0.84640	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.10763	2.84;2.84;2.84	4.69	4.69	0.59074	.	0.210357	0.33199	N	0.005169	T	0.21186	0.0510	M	0.64997	1.995	0.80722	D	1	P;P	0.52316	0.952;0.919	P;B	0.50860	0.652;0.395	T	0.00888	-1.1526	9	.	.	.	-11.4943	16.138	0.81502	0.0:0.0:1.0:0.0	.	271;1213	Q5GIT6;P53804	.;TTC3_HUMAN	K	1213	ENSP00000347889:E1213K;ENSP00000381981:E1213K;ENSP00000346791:E1213K	.	E	+	1	0	TTC3	37460023	1.000000	0.71417	0.746000	0.31095	0.736000	0.42039	6.510000	0.73729	2.318000	0.78349	0.655000	0.94253	GAA		0.363	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
DYRK1A	1859	broad.mit.edu	37	21	38853090	38853090	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:38853090G>A	ENST00000398960.2	+	4	553	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	DYRK1A_ENST00000451934.1_Missense_Mutation_p.E160K|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E160K|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E160K|DYRK1A_ENST00000339659.4_Missense_Mutation_p.E151K|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E160K|DYRK1A_ENST00000462274.1_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.E160K(2)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGATCGTTACGAAATTGACTC	0.333																																					p.E151K	Melanoma(114;464 1602 31203 43785 45765)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G451A	21						.						115.0	116.0	116.0					21																	38853090		2203	4300	6503	37774960	SO:0001583	missense	1859	exon4			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.478G>A	21.37:g.38853090G>A	ENSP00000381932:p.Glu160Lys		37774960	NM_130436	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680390	0.96774	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	L	0.27053	0.805	0.80722	D	1	D;D;P;P;D	0.89917	1.0;1.0;0.806;0.769;1.0	D;D;B;B;D	0.87578	0.998;0.998;0.363;0.248;0.998	T	0.73164	-0.4069	10	0.56958	D	0.05	.	19.1981	0.93698	0.0:0.0:1.0:0.0	.	160;160;160;151;160	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	K	160;151;160;160;160;160	ENSP00000342690:E160K;ENSP00000340373:E151K;ENSP00000319032:E160K;ENSP00000416089:E160K;ENSP00000381932:E160K;ENSP00000381929:E160K	ENSP00000319032:E160K	E	+	1	0	DYRK1A	37774960	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.803000	0.99136	2.615000	0.88500	0.655000	0.94253	GAA		0.333	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396	
ETS2	2114	broad.mit.edu	37	21	40186831	40186831	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:40186831A>C	ENST00000360214.3	+	6	891	c.431A>C	c.(430-432)aAg>aCg	p.K144T	ETS2_ENST00000360938.3_Missense_Mutation_p.K144T	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	144	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K144T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				AACCTTGGCAAGGAACGCTTT	0.512																																					p.K144T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A431C	21						.						206.0	202.0	204.0					21																	40186831		2203	4300	6503	39108701	SO:0001583	missense	2114	exon5				CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.431A>C	21.37:g.40186831A>C	ENSP00000353344:p.Lys144Thr		39108701	NM_005239	A6NM68|D3DSH6|Q53Y89	Missense_Mutation	SNP	ENST00000360214.3	37	CCDS13659.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266991	0.80469	.	.	ENSG00000157557	ENST00000360214;ENST00000360938;ENST00000432278;ENST00000456966	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.08	5.08	0.68730	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.045455	0.85682	D	0.000000	T	0.65386	0.2686	M	0.87547	2.89	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.988;1.0	T	0.72978	-0.4127	10	0.87932	D	0	.	15.174	0.72896	1.0:0.0:0.0:0.0	.	144;144	P15036;C9JAG2	ETS2_HUMAN;.	T	144	ENSP00000353344:K144T;ENSP00000354194:K144T;ENSP00000401273:K144T;ENSP00000411086:K144T	ENSP00000353344:K144T	K	+	2	0	ETS2	39108701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.361000	0.79497	2.030000	0.59900	0.533000	0.62120	AAG		0.512	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1		
BRWD1	54014	broad.mit.edu	37	21	40601356	40601356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:40601356C>A	ENST00000333229.2	-	26	3334	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	BRWD1_ENST00000342449.3_Nonsense_Mutation_p.E1003*|BRWD1_ENST00000380800.3_Nonsense_Mutation_p.E1003*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1003					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E1003*(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTAACCAATTCTTGATCCTTT	0.303																																					p.E1003X	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G3007T	21						.						70.0	72.0	71.0					21																	40601356		2202	4300	6502	39523226	SO:0001587	stop_gained	54014	exon26			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3007G>T	21.37:g.40601356C>A	ENSP00000330753:p.Glu1003*		39523226	NM_033656	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	44	10.979994	0.99498	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.1132	19.8892	0.96923	0.0:1.0:0.0:0.0	.	.	.	.	X	1003;1003;1003;7	.	ENSP00000330753:E1003X	E	-	1	0	BRWD1	39523226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.334000	0.79224	2.777000	0.95525	0.591000	0.81541	GAA		0.303	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
BRWD1	54014	broad.mit.edu	37	21	40670402	40670402	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:40670402G>T	ENST00000333229.2	-	5	632	c.305C>A	c.(304-306)tCt>tAt	p.S102Y	BRWD1_ENST00000342449.3_Missense_Mutation_p.S102Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.S102Y|BRWD1_ENST00000341322.4_Missense_Mutation_p.S102Y|BRWD1_ENST00000470108.1_5'UTR	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	102					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S102Y(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACCAAGTAAAGAAGTGACTCT	0.388																																					p.S102Y	Melanoma(170;988 1986 4794 16843 39731)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C305A	21						.						123.0	131.0	129.0					21																	40670402		2203	4300	6503	39592272	SO:0001583	missense	54014	exon5			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.305C>A	21.37:g.40670402G>T	ENSP00000330753:p.Ser102Tyr		39592272	NM_001007246	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422114	0.83559	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.51550	0.1681	M	0.81497	2.545	0.50313	D	0.999862	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.74023	0.964;0.982;0.972	T	0.55354	-0.8154	10	0.87932	D	0	-10.0094	19.4966	0.95075	0.0:0.0:1.0:0.0	.	102;102;102	Q6P2D1;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	Y	102	ENSP00000330753:S102Y;ENSP00000344333:S102Y;ENSP00000370178:S102Y;ENSP00000342106:S102Y	ENSP00000330753:S102Y	S	-	2	0	BRWD1	39592272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.464000	0.80887	2.623000	0.88846	0.467000	0.42956	TCT		0.388	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656	
SH3BGR	6450	broad.mit.edu	37	21	40834347	40834347	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:40834347A>C	ENST00000333634.4	+	2	359	c.281A>C	c.(280-282)aAa>aCa	p.K94T	SH3BGR_ENST00000458295.1_5'UTR|SH3BGR_ENST00000380634.1_5'UTR|SH3BGR_ENST00000380631.1_5'UTR|SH3BGR_ENST00000380637.3_5'UTR	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	94					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GAAGCGAATAAAATCGACTTT	0.363																																					p.K94T												.	.	0			c.A281C	21						.						99.0	106.0	104.0					21																	40834347		2203	4300	6503	39756217	SO:0001583	missense	6450	exon2				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.281A>C	21.37:g.40834347A>C	ENSP00000332513:p.Lys94Thr		39756217	NM_007341	A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	CCDS13666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.14|19.14	3.770418|3.770418	0.69992|0.69992	.|.	.|.	ENSG00000185437|ENSG00000185437	ENST00000333634|ENST00000452550	T|.	0.77489|.	-1.1|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Thioredoxin-like fold (2);|.	0.097407|.	0.64402|.	N|.	0.000002|.	T|.	0.78149|.	0.4238|.	M|M	0.89715|0.89715	3.055|3.055	0.37043|0.37043	D|D	0.897232|0.897232	D|.	0.76494|.	0.999|.	D|.	0.79784|.	0.993|.	D|.	0.84350|.	0.0532|.	10|.	0.66056|.	D|.	0.02|.	.|.	9.6808|9.6808	0.40070|0.40070	0.9224:0.0:0.0776:0.0|0.9224:0.0:0.0776:0.0	.|.	94|.	P55822|.	SH3BG_HUMAN|.	T|Y	94|22	ENSP00000332513:K94T|.	ENSP00000332513:K94T|.	K|X	+|+	2|3	0|2	SH3BGR|SH3BGR	39756217|39756217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.021000|7.021000	0.76425|0.76425	2.054000|2.054000	0.61138|0.61138	0.533000|0.533000	0.62120|0.62120	AAA|TAA		0.363	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341	
IGSF5	150084	broad.mit.edu	37	21	41143130	41143130	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:41143130C>T	ENST00000380588.4	+	4	809	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	236					single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R236W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CACTGTGATTCGGTGTCCCCA	0.468																																					p.R236W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C706T	21						.						70.0	71.0	71.0					21																	41143130		2203	4300	6503	40065000	SO:0001583	missense	150084	exon4				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.706C>T	21.37:g.41143130C>T	ENSP00000369962:p.Arg236Trp		40065000	NM_001080444		Missense_Mutation	SNP	ENST00000380588.4	37	CCDS33562.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724611	0.30593	.	.	ENSG00000183067	ENST00000380588	T	0.09538	2.97	5.0	3.0	0.34707	.	1.117700	0.06543	N	0.743558	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	P	0.58577	0.841	T	0.38023	-0.9680	10	0.37606	T	0.19	-0.7271	6.9174	0.24367	0.243:0.5837:0.1734:0.0	.	236	Q9NSI5	IGSF5_HUMAN	W	236	ENSP00000369962:R236W	ENSP00000369962:R236W	R	+	1	2	IGSF5	40065000	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.406000	0.21032	1.406000	0.46857	0.655000	0.94253	CGG		0.468	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		
DSCAM	1826	broad.mit.edu	37	21	42064770	42064770	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:42064770G>T	ENST00000400454.1	-	3	951	c.474C>A	c.(472-474)gtC>gtA	p.V158V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	158	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V158V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTCCCATGAGACGACAGTGA	0.512																																					p.V158V	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C474A	21						.						133.0	133.0	133.0					21																	42064770		2043	4187	6230	40986640	SO:0001819	synonymous_variant	1826	exon3			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.474C>A	21.37:g.42064770G>T			40986640	NM_001389	O60468	Silent	SNP	ENST00000400454.1	37	CCDS42929.1																																																																																				0.512	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
PDE9A	5152	broad.mit.edu	37	21	44153528	44153528	+	Missense_Mutation	SNP	G	G	A	rs372762445		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:44153528G>A	ENST00000291539.6	+	7	620	c.560G>A	c.(559-561)cGc>cAc	p.R187H	PDE9A_ENST00000328862.6_Missense_Mutation_p.R161H|PDE9A_ENST00000335512.4_Missense_Mutation_p.R127H|PDE9A_ENST00000539837.1_Missense_Mutation_p.R59H|PDE9A_ENST00000380328.2_Missense_Mutation_p.R134H|PDE9A_ENST00000349112.3_Missense_Mutation_p.R59H|PDE9A_ENST00000470987.1_3'UTR|AP001627.1_ENST00000437426.1_RNA|PDE9A_ENST00000398229.3_Missense_Mutation_p.R53H|PDE9A_ENST00000398232.3_Missense_Mutation_p.R120H|PDE9A_ENST00000398225.3_Missense_Mutation_p.R146H|PDE9A_ENST00000398236.3_Missense_Mutation_p.R101H|PDE9A_ENST00000398234.3_Missense_Mutation_p.R86H|PDE9A_ENST00000335440.6_Missense_Mutation_p.R85H|PDE9A_ENST00000398227.3_Missense_Mutation_p.R27H|PDE9A_ENST00000398224.3_Missense_Mutation_p.R60H	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	187					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)	p.R187H(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	CTAGAGAAACGCGTGGAATGT	0.413																																					p.R101H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G302A	21						.	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,,HIS/ARG,HIS/ARG,,HIS/ARG,HIS/ARG,,,HIS/ARG,HIS/ARG,HIS/ARG,,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	127.0	106.0	113.0		380,179,176,401,257,,,302,80,,158,254,,,359,437,482,,,560	5.6	0.1	21		113	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,utr-5,utr-5,missense,missense,utr-5,missense,missense,utr-5,utr-5,missense,missense,missense,utr-5,utr-5,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	29,29,29,29,29,,,29,29,,29,29,,,29,29,29,,,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging,probably-damaging,,probably-damaging,probably-damaging,,,probably-damaging,probably-damaging,probably-damaging,,,probably-damaging	127/534,60/467,59/466,134/541,86/493,,,101/508,27/434,,53/460,85/492,,,120/527,146/553,161/568,,,187/594	44153528	1,13005	2203	4300	6503	43026597	SO:0001583	missense	5152	exon5			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.560G>A	21.37:g.44153528G>A	ENSP00000291539:p.Arg187His		43026597	NM_001001574	B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251304	0.39797	2.27E-4	0.0	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73681	-0.51;-0.61;-0.72;-0.71;-0.77;-0.67;-0.62;-0.73;-0.64;-0.72;-0.62;-0.61;-0.57;-0.64	5.61	5.61	0.85477	.	0.680727	0.14557	N	0.312293	T	0.78059	0.4224	L	0.32530	0.975	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.996;1.0;1.0;1.0;0.998;1.0;0.999;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.74348	0.983;0.955;0.934;0.96;0.983;0.963;0.955;0.963;0.941;0.963;0.975;0.919;0.963;0.912	T	0.68239	-0.5461	10	0.56958	D	0.05	.	9.0867	0.36586	0.129:0.0:0.871:0.0	.	120;101;86;161;146;79;127;27;53;59;85;134;60;187	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	H	127;59;187;134;120;86;101;161;85;146;53;27;59;60	ENSP00000335242:R127H;ENSP00000441899:R59H;ENSP00000291539:R187H;ENSP00000369685:R134H;ENSP00000381287:R120H;ENSP00000381289:R86H;ENSP00000381291:R101H;ENSP00000328699:R161H;ENSP00000335365:R85H;ENSP00000381281:R146H;ENSP00000381285:R53H;ENSP00000381283:R27H;ENSP00000344730:R59H;ENSP00000381280:R60H	ENSP00000291539:R187H	R	+	2	0	PDE9A	43026597	0.963000	0.33076	0.127000	0.21898	0.087000	0.18053	3.751000	0.55165	2.627000	0.88993	0.591000	0.81541	CGC		0.413	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1		
PKNOX1	5316	broad.mit.edu	37	21	44430205	44430205	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:44430205T>C	ENST00000291547.5	+	4	433	c.222T>C	c.(220-222)tgT>tgC	p.C74C	PKNOX1_ENST00000432907.2_Intron	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	74					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)	p.C74C(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TTGAAAAATGTGAACAATCTA	0.373																																					p.C74C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T222C	21						.						82.0	83.0	83.0					21																	44430205		2203	4300	6503	43303274	SO:0001819	synonymous_variant	5316	exon4				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.222T>C	21.37:g.44430205T>C			43303274	NM_004571	O00528|Q8IWT7	Silent	SNP	ENST00000291547.5	37	CCDS13692.1																																																																																				0.373	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3		
RRP1B	23076	broad.mit.edu	37	21	45096691	45096691	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:45096691C>T	ENST00000340648.4	+	8	809	c.692C>T	c.(691-693)aCg>aTg	p.T231M		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	231					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)	p.T231M(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCTGAAGAGACGATGGAGGAA	0.498																																					p.T231M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C692T	21						.						152.0	130.0	138.0					21																	45096691		2203	4300	6503	43921119	SO:0001583	missense	23076	exon8			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.692C>T	21.37:g.45096691C>T	ENSP00000339145:p.Thr231Met		43921119	NM_015056	Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278353	0.40294	.	.	ENSG00000160208	ENST00000340648	T	0.30981	1.51	5.5	1.08	0.20341	.	0.806743	0.11525	N	0.555298	T	0.24661	0.0598	L	0.60455	1.87	0.09310	N	1	B	0.28258	0.205	B	0.16289	0.015	T	0.27331	-1.0077	10	0.87932	D	0	-2.7018	3.9199	0.09239	0.0:0.4276:0.1944:0.3779	.	231	Q14684	RRP1B_HUMAN	M	231	ENSP00000339145:T231M	ENSP00000339145:T231M	T	+	2	0	RRP1B	43921119	0.001000	0.12720	0.000000	0.03702	0.488000	0.33401	1.085000	0.30840	0.193000	0.20303	0.563000	0.77884	ACG		0.498	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	
TRPM2	7226	broad.mit.edu	37	21	45833804	45833804	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:45833804C>A	ENST00000397928.1	+	20	3438	c.2993C>A	c.(2992-2994)cCc>cAc	p.P998H	TRPM2_ENST00000397932.2_Missense_Mutation_p.P998H|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.P998H|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.P978H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	998					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.P998H(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CACTGCAGCCCCAATGGCACC	0.627																																					p.P998H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2993A	21						.						176.0	182.0	180.0					21																	45833804		2203	4300	6503	44658232	SO:0001583	missense	7226	exon20			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2993C>A	21.37:g.45833804C>A	ENSP00000381023:p.Pro998His		44658232	NM_003307	D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967002	0.53507	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	4.78	3.89	0.44902	Ion transport (1);	0.301734	0.32719	N	0.005724	T	0.79753	0.4500	M	0.79475	2.455	0.37282	D	0.907862	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.975;0.975	T	0.79072	-0.1953	10	0.15499	T	0.54	-31.6294	9.5406	0.39248	0.0:0.8371:0.0:0.1629	.	998;784;998	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	998;998;978;998	ENSP00000300482:P998H;ENSP00000381023:P998H;ENSP00000300481:P978H;ENSP00000381026:P998H	ENSP00000300481:P978H	P	+	2	0	TRPM2	44658232	0.966000	0.33281	1.000000	0.80357	0.970000	0.65996	2.611000	0.46334	1.135000	0.42183	0.591000	0.81541	CCC		0.627	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307	
DIP2A	23181	broad.mit.edu	37	21	47959810	47959810	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:47959810G>A	ENST00000417564.2	+	17	1963	c.1942G>A	c.(1942-1944)Gcc>Acc	p.A648T	DIP2A_ENST00000435722.3_Missense_Mutation_p.A648T|DIP2A_ENST00000400274.1_Missense_Mutation_p.A644T|DIP2A_ENST00000318711.7_Missense_Mutation_p.A649T|DIP2A_ENST00000466639.1_Missense_Mutation_p.A605T|DIP2A_ENST00000427143.2_Missense_Mutation_p.A584T|DIP2A_ENST00000457905.3_Missense_Mutation_p.A648T			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	648					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A648T(1)|p.A649T(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCCTGTGACGCCTTCCTCAA	0.587																																					p.A584T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1750A	21						.						147.0	154.0	152.0					21																	47959810		2129	4224	6353	46784238	SO:0001583	missense	23181	exon15			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1942G>A	21.37:g.47959810G>A	ENSP00000392066:p.Ala648Thr		46784238	NM_001146114	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369872	0.82573	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.64	4.64	0.57946	AMP-dependent synthetase/ligase (1);	0.063680	0.64402	N	0.000007	T	0.64583	0.2611	M	0.80982	2.52	0.80722	D	1	D;P;D;D;D;P;D	0.89917	1.0;0.905;1.0;0.995;0.995;0.943;0.977	D;B;D;D;D;P;P	0.87578	0.997;0.402;0.998;0.917;0.94;0.742;0.567	T	0.63616	-0.6597	10	0.18710	T	0.47	-25.8292	16.495	0.84237	0.0:0.0:1.0:0.0	.	649;584;605;584;648;648;648	E9PER1;E7EMA5;Q14689-3;B4E0F0;Q14689;Q14689-4;Q14689-2	.;.;.;.;DIP2A_HUMAN;.;.	T	644;584;649;605;648;605;648;648	ENSP00000383133:A644T;ENSP00000400528:A584T;ENSP00000323633:A649T;ENSP00000393434:A648T;ENSP00000430249:A605T;ENSP00000415089:A648T;ENSP00000392066:A648T	ENSP00000323633:A649T	A	+	1	0	DIP2A	46784238	1.000000	0.71417	0.918000	0.36340	0.567000	0.35839	9.603000	0.98315	2.121000	0.65114	0.655000	0.94253	GCC		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151	
TPTE	7179	broad.mit.edu	37	21	10916378	10916378	+	Missense_Mutation	SNP	G	G	A	rs570468666		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:10916378G>A	ENST00000361285.4	-	20	1597	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Missense_Mutation_p.S385L|TPTE_ENST00000298232.7_Missense_Mutation_p.S405L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	423	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S405L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACGAGGAATCGAATAAATAAT	0.388													.|||	1	0.000199681	0.0008	0.0	5008	,	,		47548	0.0		0.0	False		,,,				2504	0.0				p.S405L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1214T	21						.																																			9938249	SO:0001583	missense	7179	exon19			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1268C>T	21.37:g.10916378G>A	ENSP00000355208:p.Ser423Leu		9938249	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374557	0.42105	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.86562	-2.14;-2.14;-2.14	1.79	1.79	0.24919	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062472	0.64402	D	0.000003	D	0.90892	0.7138	M	0.81942	2.565	0.46028	D	0.998829	D;D;D	0.71674	0.998;0.998;0.978	D;D;P	0.65323	0.934;0.934;0.739	D	0.89728	0.3924	10	0.62326	D	0.03	-4.5869	7.1115	0.25392	0.0:0.0:1.0:0.0	.	385;405;423	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	405;423;385	ENSP00000298232:S405L;ENSP00000355208:S423L;ENSP00000344441:S385L	ENSP00000298232:S405L	S	-	2	0	TPTE	9938249	0.992000	0.36948	0.708000	0.30435	0.064000	0.16182	2.621000	0.46418	1.313000	0.45069	0.184000	0.17185	TCG		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
TPTE	7179	broad.mit.edu	37	21	10934966	10934966	+	Missense_Mutation	SNP	C	C	T	rs200020621		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:10934966C>T	ENST00000361285.4	-	15	1156	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R238Q|TPTE_ENST00000298232.7_Missense_Mutation_p.R258Q	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	276	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R258Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAGTGGTTTCGGTGTTTCTT	0.363																																					p.R258Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G773A	21						.						255.0	227.0	236.0					21																	10934966		2203	4300	6503	9956837	SO:0001583	missense	7179	exon14			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.827G>A	21.37:g.10934966C>T	ENSP00000355208:p.Arg276Gln		9956837	NM_199259	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.360	-0.939804	0.02322	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.28666	1.6;1.6;1.6	2.25	-4.5	0.03493	Phosphatase tensin type (1);	0.874116	0.10137	N	0.711356	T	0.10637	0.0260	N	0.04260	-0.245	0.09310	N	1	B;B;B	0.19583	0.03;0.03;0.037	B;B;B	0.20184	0.016;0.016;0.028	T	0.32107	-0.9919	10	0.15952	T	0.53	-0.2719	5.8332	0.18593	0.0:0.3712:0.3367:0.2922	.	238;258;276	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Q	258;276;238	ENSP00000298232:R258Q;ENSP00000355208:R276Q;ENSP00000344441:R238Q	ENSP00000298232:R258Q	R	-	2	0	TPTE	9956837	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-2.618000	0.00880	-1.604000	0.01595	-1.247000	0.01520	CGA		0.363	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
S100B	6285	broad.mit.edu	37	21	48022197	48022197	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr21:48022197G>T	ENST00000291700.4	-	2	328	c.132C>A	c.(130-132)ttC>ttA	p.F44L	S100B_ENST00000367071.4_Missense_Mutation_p.F44L|S100B_ENST00000397648.1_Missense_Mutation_p.F44L	NM_006272.2	NP_006263.1	P04271	S100B_HUMAN	S100 calcium binding protein B	44	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				astrocyte differentiation (GO:0048708)|axonogenesis (GO:0007409)|cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|regulation of neuronal synaptic plasticity (GO:0048168)|response to glucocorticoid (GO:0051384)|response to methylmercury (GO:0051597)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|S100 protein binding (GO:0044548)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)	p.F44L(1)		endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5	Breast(49;0.247)	Lung NSC(3;0.245)		OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241)	Olopatadine(DB00768)	TCACCTCTAAGAAATGGGAAA	0.433																																					p.F44L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C132A	21						.						124.0	104.0	111.0					21																	48022197		2203	4300	6503	46846625	SO:0001583	missense	6285	exon2			M59488	CCDS13736.1	21q22.3	2013-01-10	2006-09-11		ENSG00000160307	ENSG00000160307		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10500	protein-coding gene	gene with protein product		176990	"""S100 calcium binding protein, beta (neural)"""			2394738, 1998503	Standard	NM_006272		Approved	S100beta	uc002zju.1	P04271	OTTHUMG00000090715	ENST00000291700.4:c.132C>A	21.37:g.48022197G>T	ENSP00000291700:p.Phe44Leu		46846625	NM_006272	D3DSN6	Missense_Mutation	SNP	ENST00000291700.4	37	CCDS13736.1	.	.	.	.	.	.	.	.	.	.	G	7.414	0.635428	0.14322	.	.	ENSG00000160307	ENST00000291700;ENST00000367071;ENST00000397648	T;T;T	0.14266	2.52;2.52;2.52	5.48	-3.31	0.04988	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.105877	0.64402	N	0.000003	T	0.11623	0.0283	.	.	.	0.24148	N	0.995707	P;B	0.42296	0.775;0.372	B;B	0.39660	0.306;0.26	T	0.16837	-1.0389	9	0.51188	T	0.08	0.0611	14.7164	0.69272	0.365:0.0:0.635:0.0	.	44;44	A8MRB1;P04271	.;S100B_HUMAN	L	44	ENSP00000291700:F44L;ENSP00000356038:F44L;ENSP00000380769:F44L	ENSP00000291700:F44L	F	-	3	2	S100B	46846625	0.031000	0.19500	0.003000	0.11579	0.008000	0.06430	-0.234000	0.09028	-0.455000	0.07054	-0.345000	0.07892	TTC		0.433	S100B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207427.1	NM_006272	
GAB4	128954	broad.mit.edu	37	22	17472793	17472793	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:17472793T>G	ENST00000400588.1	-	2	555	c.448A>C	c.(448-450)Atc>Ctc	p.I150L	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	150	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.I150L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AAGCCACAGATCTGACAGATG	0.552																																					p.I150L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A448C	22						.						246.0	249.0	248.0					22																	17472793		2203	4300	6503	15852793	SO:0001583	missense	128954	exon2			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.448A>C	22.37:g.17472793T>G	ENSP00000383431:p.Ile150Leu		15852793	NM_001037814		Missense_Mutation	SNP	ENST00000400588.1	37	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553663	0.27739	.	.	ENSG00000215568	ENST00000400588	T	0.11821	2.74	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.370975	0.25732	N	0.028670	T	0.10380	0.0254	L	0.33668	1.02	0.36033	D	0.839569	B	0.24132	0.098	B	0.28916	0.096	T	0.13415	-1.0510	10	0.45353	T	0.12	.	7.5812	0.27965	0.0:0.0:0.0:1.0	.	150	Q2WGN9	GAB4_HUMAN	L	150	ENSP00000383431:I150L	ENSP00000383431:I150L	I	-	1	0	GAB4	15852793	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	4.492000	0.60334	1.071000	0.40834	0.482000	0.46254	ATC		0.552	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882	
BCL2L13	23786	broad.mit.edu	37	22	18166077	18166077	+	Missense_Mutation	SNP	A	A	C	rs568678964		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:18166077A>C	ENST00000317582.5	+	3	566	c.219A>C	c.(217-219)gaA>gaC	p.E73D	BCL2L13_ENST00000418951.2_Missense_Mutation_p.E73D|BCL2L13_ENST00000493680.1_Missense_Mutation_p.E73D|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000355028.3_Missense_Mutation_p.E73D|BCL2L13_ENST00000399782.1_Missense_Mutation_p.E73D|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Intron	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	73					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.E73D(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TGGACAAAGAAATTTCTGAAG	0.299																																					p.E73D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A219C	22						.						30.0	32.0	31.0					22																	18166077		2182	4279	6461	16546077	SO:0001583	missense	23786	exon3			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.219A>C	22.37:g.18166077A>C	ENSP00000318883:p.Glu73Asp		16546077	NM_015367	B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439910	0.43326	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028;ENST00000418951	T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6	5.56	3.37	0.38596	.	0.102724	0.64402	D	0.000004	T	0.03477	0.0100	N	0.20986	0.625	0.80722	D	1	B;B;B	0.24186	0.099;0.058;0.011	B;B;B	0.22753	0.041;0.038;0.01	T	0.45977	-0.9224	10	0.54805	T	0.06	-15.5183	5.309	0.15819	0.7248:0.0:0.145:0.1301	.	73;73;73	E9PDD6;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	D	73	ENSP00000382682:E73D;ENSP00000318883:E73D;ENSP00000434764:E73D;ENSP00000347133:E73D;ENSP00000410019:E73D	ENSP00000318883:E73D	E	+	3	2	BCL2L13	16546077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.914000	0.28624	0.956000	0.37904	0.524000	0.50904	GAA		0.299	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367	
CLTCL1	8218	broad.mit.edu	37	22	19220769	19220769	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:19220769G>A	ENST00000263200.10	-	9	1513	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R481W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R481W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	481	Flexible linker.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.R481W(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATTTGCCCGAAGGTACACA	0.498			T	?	ALCL																																p.R481W			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1441T	22						.						143.0	140.0	141.0					22																	19220769		1960	4163	6123	17600769	SO:0001583	missense	8218	exon9				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1441C>T	22.37:g.19220769G>A	ENSP00000445677:p.Arg481Trp		17600769	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276926	0.59758	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.52295	0.67;0.67;0.67	3.92	2.89	0.33648	Armadillo-type fold (2);	0.000000	0.64402	D	0.000002	T	0.72724	0.3496	M	0.93106	3.38	0.58432	D	0.999991	D;D	0.76494	0.997;0.999	D;D	0.74674	0.984;0.947	T	0.79072	-0.1953	10	0.87932	D	0	-21.811	11.9849	0.53142	0.0867:0.0:0.9133:0.0	.	481;481	P53675-2;P53675	.;CLH2_HUMAN	W	481	ENSP00000439662:R481W;ENSP00000445677:R481W;ENSP00000441158:R481W	ENSP00000445677:R481W	R	-	1	2	CLTCL1	17600769	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.512000	0.45485	0.982000	0.38575	0.591000	0.81541	CGG		0.498	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
HIRA	7290	broad.mit.edu	37	22	19398255	19398255	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:19398255G>A	ENST00000263208.5	-	2	340	c.84C>T	c.(82-84)ttC>ttT	p.F28F	HIRA_ENST00000541063.1_5'UTR|HIRA_ENST00000546308.1_5'UTR|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000340170.4_Silent_p.F28F	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	28					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.F28F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTCCAGTTGCGAACTTGGTCC	0.413																																					p.F28F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C84T	22						.						234.0	237.0	236.0					22																	19398255		2203	4300	6503	17778255	SO:0001819	synonymous_variant	7290	exon2			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.84C>T	22.37:g.19398255G>A			17778255	NM_003325	Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	CCDS13759.1																																																																																				0.413	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	
TBX1	6899	broad.mit.edu	37	22	19752503	19752503	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:19752503G>T	ENST00000329705.7	+	6	836	c.707G>T	c.(706-708)aGa>aTa	p.R236I	TBX1_ENST00000332710.4_Missense_Mutation_p.R236I|TBX1_ENST00000359500.3_Missense_Mutation_p.R236I	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	236					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|aorta morphogenesis (GO:0035909)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|blood vessel morphogenesis (GO:0048514)|blood vessel remodeling (GO:0001974)|cell fate specification (GO:0001708)|cell proliferation (GO:0008283)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|coronary artery morphogenesis (GO:0060982)|determination of left/right symmetry (GO:0007368)|ear morphogenesis (GO:0042471)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic viscerocranium morphogenesis (GO:0048703)|enamel mineralization (GO:0070166)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|lymph vessel development (GO:0001945)|mesenchymal cell apoptotic process (GO:0097152)|mesoderm development (GO:0007498)|middle ear morphogenesis (GO:0042474)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle organ morphogenesis (GO:0048644)|muscle tissue morphogenesis (GO:0060415)|negative regulation of cell differentiation (GO:0045596)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|parathyroid gland development (GO:0060017)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of tongue muscle cell differentiation (GO:2001037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of organ morphogenesis (GO:2000027)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retinoic acid receptor signaling pathway (GO:0048384)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|social behavior (GO:0035176)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tongue morphogenesis (GO:0043587)|transcription, DNA-templated (GO:0006351)|vagus nerve morphogenesis (GO:0021644)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TCCATGCACAGATACCAGCCC	0.542																																					p.R236I												.	.	0			c.G707T	22						.						94.0	92.0	93.0					22																	19752503		2203	4300	6503	18132503	SO:0001583	missense	6899	exon6			AF012131	CCDS13765.1, CCDS13766.1, CCDS13767.1	22q11.21	2014-09-17			ENSG00000184058	ENSG00000184058		"""T-boxes"""	11592	protein-coding gene	gene with protein product		602054	"""velocardiofacial syndrome"""	VCF		9268629, 23000736	Standard	NM_080646		Approved	CATCH22	uc002zqa.1	O43435	OTTHUMG00000150421	ENST00000329705.7:c.707G>T	22.37:g.19752503G>T	ENSP00000331176:p.Arg236Ile		18132503	NM_080647	C6G493|C6G494|O43436|Q96RJ2	Missense_Mutation	SNP	ENST00000329705.7	37	CCDS13766.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732814	0.89482	.	.	ENSG00000184058	ENST00000332710;ENST00000329705;ENST00000359500	D;D;D	0.89875	-2.58;-2.58;-2.58	4.18	4.18	0.49190	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	M	0.90595	3.13	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.77557	0.99;0.981;0.974	D	0.96373	0.9275	10	0.87932	D	0	.	16.2707	0.82616	0.0:0.0:1.0:0.0	.	236;236;236	Q152R5;O43435;D9ZGG0	.;TBX1_HUMAN;.	I	236	ENSP00000331791:R236I;ENSP00000331176:R236I;ENSP00000352483:R236I	ENSP00000331176:R236I	R	+	2	0	TBX1	18132503	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.514000	0.73746	2.174000	0.68829	0.491000	0.48974	AGA		0.542	TBX1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318033.1	NM_080647	
RANBP1	5902	broad.mit.edu	37	22	20114575	20114575	+	Nonstop_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:20114575A>C	ENST00000331821.3	+	6	708	c.606A>C	c.(604-606)taA>taC	p.*202Y	RANBP1_ENST00000402752.1_Nonstop_Mutation_p.*201Y|SNORA77_ENST00000578179.1_RNA|RANBP1_ENST00000430524.1_3'UTR	NM_002882.2	NP_002873.1	P43487	RANG_HUMAN	RAN binding protein 1	0					intracellular transport (GO:0046907)|positive regulation of mitotic centrosome separation (GO:0046604)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|spindle organization (GO:0007051)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Ran GTPase binding (GO:0008536)	p.*202Y(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					AGAAGCAATAAATCGTCTTAt	0.378																																					p.X202Y												.	.	1	Nonstop extension(1)	large_intestine(1)	c.A606C	22						.						46.0	46.0	46.0					22																	20114575		2203	4295	6498	18494575	SO:0001578	stop_lost	5902	exon6			D38076	CCDS13775.1, CCDS63408.1, CCDS74823.1	22q11.21	2008-06-16			ENSG00000099901	ENSG00000099901			9847	protein-coding gene	gene with protein product		601180				7616957, 10330396	Standard	NM_001278639		Approved	HTF9A	uc002zro.1	P43487	OTTHUMG00000150490	ENST00000331821.3:c.606A>C	22.37:g.20114575A>C	ENSP00000327583:p.*202Tyrext*16		18494575	NM_002882	Q53EY3	Nonstop_Mutation	SNP	ENST00000331821.3	37	CCDS13775.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642313	0.67244	.	.	ENSG00000099901	ENST00000402752;ENST00000331821;ENST00000448394	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0368	0.80635	1.0:0.0:0.0:0.0	.	.	.	.	Y	201;202;129	.	.	X	+	3	2	RANBP1	18494575	1.000000	0.71417	0.792000	0.32020	0.765000	0.43378	7.923000	0.87546	2.183000	0.69458	0.533000	0.62120	TAA		0.378	RANBP1-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343733.1	NM_002882	
CRKL	1399	broad.mit.edu	37	22	21288189	21288189	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:21288189A>C	ENST00000354336.3	+	2	943	c.434A>C	c.(433-435)aAa>aCa	p.K145T		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	145	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.K145T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|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;0.176)			CTGCCCTTTAAAAAGGGTGAG	0.493																																					p.K145T	Pancreas(85;3 1441 23889 42519 42763)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A434C	22						.						124.0	127.0	126.0					22																	21288189		2203	4300	6503	19618189	SO:0001583	missense	1399	exon2				CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.434A>C	22.37:g.21288189A>C	ENSP00000346300:p.Lys145Thr		19618189	NM_005207	A8KA44|D3DX35	Missense_Mutation	SNP	ENST00000354336.3	37	CCDS13785.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349594	0.82132	.	.	ENSG00000099942	ENST00000354336	T	0.54479	0.57	5.33	5.33	0.75918	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.67791	-0.5579	10	0.30854	T	0.27	.	13.248	0.60033	1.0:0.0:0.0:0.0	.	145	P46109	CRKL_HUMAN	T	145	ENSP00000346300:K145T	ENSP00000346300:K145T	K	+	2	0	CRKL	19618189	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.235000	0.65348	2.025000	0.59659	0.533000	0.62120	AAA		0.493	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207	
ZNF280A	129025	broad.mit.edu	37	22	22869292	22869292	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:22869292C>T	ENST00000302097.3	-	2	915	c.663G>A	c.(661-663)caG>caA	p.Q221Q	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q221Q(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTACTCCATTCTGAACATGGT	0.448																																					p.Q221Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G663A	22						.						144.0	134.0	137.0					22																	22869292		2203	4300	6503	21199292	SO:0001819	synonymous_variant	129025	exon2			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.663G>A	22.37:g.22869292C>T			21199292	NM_080740		Silent	SNP	ENST00000302097.3	37	CCDS13800.1																																																																																				0.448	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740	
PIWIL3	440822	broad.mit.edu	37	22	25120970	25120970	+	Silent	SNP	C	C	T	rs148843024		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:25120970C>T	ENST00000332271.5	-	18	2558	c.2142G>A	c.(2140-2142)tcG>tcA	p.S714S	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.S596S|PIWIL3_ENST00000533313.1_Silent_p.S596S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	714	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.S714S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AATGTGGCATCGATGATTCGT	0.413																																					p.S714S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2142A	22						.	C		0,4406		0,0,2203	125.0	106.0	112.0		2142	-6.2	0.0	22	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PIWIL3	NM_001008496.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		714/883	25120970	1,13005	2203	4300	6503	23450970	SO:0001819	synonymous_variant	440822	exon18			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2142G>A	22.37:g.25120970C>T			23450970	NM_001008496		Silent	SNP	ENST00000332271.5	37	CCDS33623.1																																																																																				0.413	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
PIWIL3	440822	broad.mit.edu	37	22	25150044	25150044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:25150044G>A	ENST00000332271.5	-	8	1330	c.914C>T	c.(913-915)gCc>gTc	p.A305V	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.A196V|PIWIL3_ENST00000533313.1_Missense_Mutation_p.A196V	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	305	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.A305V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCTGTCTGGGCCTGGGCAGA	0.388																																					p.A305V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C914T	22						.						128.0	128.0	128.0					22																	25150044		2203	4300	6503	23480044	SO:0001583	missense	440822	exon8			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.914C>T	22.37:g.25150044G>A	ENSP00000330031:p.Ala305Val		23480044	NM_001008496		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	G	3.393	-0.123894	0.06795	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.14266	2.52;2.52;2.52	2.04	-1.08	0.09936	Argonaute/Dicer protein, PAZ (3);	0.998402	0.08109	U	0.996521	T	0.08802	0.0218	L	0.33189	0.99	0.09310	N	1	B;B;B	0.22683	0.014;0.012;0.073	B;B;B	0.22152	0.03;0.038;0.03	T	0.41233	-0.9520	10	0.29301	T	0.29	5.7998	2.4826	0.04591	0.2247:0.0:0.3326:0.4428	.	196;305;305	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	V	305;196;196	ENSP00000330031:A305V;ENSP00000431843:A196V;ENSP00000435718:A196V	ENSP00000330031:A305V	A	-	2	0	PIWIL3	23480044	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.463000	0.06696	-0.168000	0.10853	0.462000	0.41574	GCC		0.388	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	
SGSM1	129049	broad.mit.edu	37	22	25315953	25315953	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:25315953C>A	ENST00000400359.4	+	25	3358	c.3351C>A	c.(3349-3351)ttC>ttA	p.F1117L	SGSM1_ENST00000400358.4_Missense_Mutation_p.F1062L	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1117						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.F1062L(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCATCAAATTCTTTAATGGTA	0.512																																					p.F1062L												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C3186A	22						.						59.0	53.0	55.0					22																	25315953		1968	4164	6132	23645953	SO:0001583	missense	129049	exon24			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.3351C>A	22.37:g.25315953C>A	ENSP00000383212:p.Phe1117Leu		23645953	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	c	18.01	3.528042	0.64860	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.22336	1.96;1.96	5.53	3.43	0.39272	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.85197	2.74	0.52501	D	0.999958	B;B;P;D	0.76494	0.296;0.337;0.946;0.999	P;B;P;D	0.79784	0.541;0.437;0.881;0.993	T	0.45483	-0.9258	10	0.72032	D	0.01	-37.1812	8.7309	0.34498	0.0:0.7353:0.0:0.2647	.	1062;1117;1134;1117	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	L	1117;1062;1117	ENSP00000383211:F1062L;ENSP00000383212:F1117L	ENSP00000383211:F1062L	F	+	3	2	SGSM1	23645953	1.000000	0.71417	0.987000	0.45799	0.718000	0.41266	1.025000	0.30090	0.795000	0.33922	0.655000	0.94253	TTC		0.512	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
MYO18B	84700	broad.mit.edu	37	22	26164985	26164985	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:26164985G>A	ENST00000407587.2	+	4	1271	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	MYO18B_ENST00000335473.7_Missense_Mutation_p.D368N|MYO18B_ENST00000536101.1_Missense_Mutation_p.D368N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	368						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D368N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GTTGGGGGACGATCTGAGAAT	0.552																																					p.D368N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1102A	22						.						36.0	40.0	38.0					22																	26164985		2095	4206	6301	24494985	SO:0001583	missense	84700	exon4			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1102G>A	22.37:g.26164985G>A	ENSP00000386096:p.Asp368Asn		24494985	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	g	11.95	1.793038	0.31685	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86432	-2.1;-2.1;-2.12	3.98	0.318	0.15867	.	1.705140	0.04097	N	0.312179	T	0.72309	0.3444	N	0.14661	0.345	0.09310	N	1	B;P;P	0.34412	0.324;0.453;0.453	B;B;B	0.26310	0.031;0.068;0.068	T	0.62412	-0.6860	10	0.13108	T	0.6	.	6.4609	0.21956	0.1491:0.3954:0.4555:0.0	.	368;368;368	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	N	368	ENSP00000441229:D368N;ENSP00000334563:D368N;ENSP00000386096:D368N	ENSP00000334563:D368N	D	+	1	0	MYO18B	24494985	0.001000	0.12720	0.003000	0.11579	0.090000	0.18270	0.915000	0.28638	0.388000	0.25054	0.306000	0.20318	GAT		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
MYO18B	84700	broad.mit.edu	37	22	26348311	26348311	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:26348311C>T	ENST00000407587.2	+	38	6064	c.5895C>T	c.(5893-5895)atC>atT	p.I1965I	MYO18B_ENST00000335473.7_Silent_p.I1964I|MYO18B_ENST00000536101.1_Silent_p.I1964I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1964	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I1965I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATCGAGCCATCGTCAGCAGGC	0.493																																					p.I1964I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5892T	22						.						63.0	68.0	66.0					22																	26348311		2053	4204	6257	24678311	SO:0001819	synonymous_variant	84700	exon38			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5895C>T	22.37:g.26348311C>T			24678311	NM_032608	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																					0.493	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SEZ6L	23544	broad.mit.edu	37	22	26706726	26706726	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:26706726C>T	ENST00000248933.6	+	7	1700	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	SEZ6L_ENST00000402979.1_Silent_p.S308S|SEZ6L_ENST00000403121.1_Silent_p.S308S|SEZ6L_ENST00000404234.3_Silent_p.S535S|SEZ6L_ENST00000360929.3_Silent_p.S535S|SEZ6L_ENST00000529632.2_Silent_p.S535S|SEZ6L_ENST00000343706.4_Silent_p.S535S			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	535	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.S535S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCTGCTGAGCGAAGGCAACA	0.597																																					p.S535S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1605T	22						.						150.0	117.0	128.0					22																	26706726		2203	4300	6503	25036726	SO:0001819	synonymous_variant	23544	exon7			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1605C>T	22.37:g.26706726C>T			25036726	NM_001184776	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	ENST00000248933.6	37	CCDS13833.1																																																																																				0.597	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
TFIP11	24144	broad.mit.edu	37	22	26902803	26902803	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:26902803C>T	ENST00000407690.1	-	5	584	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	TFIP11_ENST00000407148.1_Missense_Mutation_p.E101K|TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407431.1_Missense_Mutation_p.E101K|TFIP11_ENST00000405938.1_Missense_Mutation_p.E101K	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	101					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)	p.E101K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GGTTTCTCTTCGTCATCAGAA	0.507																																					p.E101K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	22						.						123.0	113.0	116.0					22																	26902803		2203	4300	6503	25232803	SO:0001583	missense	24144	exon5			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.301G>A	22.37:g.26902803C>T	ENSP00000384421:p.Glu101Lys		25232803	NM_012143	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363939	0.61513	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000405938;ENST00000455080	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.79	4.76	0.60689	.	0.226336	0.47852	D	0.000207	T	0.24928	0.0605	N	0.08118	0	0.58432	D	0.99999	P	0.35612	0.512	B	0.22601	0.04	T	0.06006	-1.0851	10	0.25106	T	0.35	-24.7952	15.7656	0.78123	0.0:0.8634:0.1366:0.0	.	101	Q9UBB9	TFP11_HUMAN	K	101	ENSP00000384421:E101K;ENSP00000383892:E101K;ENSP00000385861:E101K;ENSP00000384297:E101K	ENSP00000384297:E101K	E	-	1	0	TFIP11	25232803	0.993000	0.37304	0.645000	0.29479	0.933000	0.57130	3.492000	0.53259	1.398000	0.46701	0.655000	0.94253	GAA		0.507	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697	
MN1	4330	broad.mit.edu	37	22	28146921	28146921	+	Silent	SNP	G	G	A	rs371255254		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:28146921G>A	ENST00000302326.4	-	2	4899	c.3945C>T	c.(3943-3945)ttC>ttT	p.F1315F	MN1_ENST00000497225.1_5'UTR	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1315					intramembranous ossification (GO:0001957)			p.F1315F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGGCAGCCACGAATGTCCCAA	0.587			T	ETV6	"""AML, meningioma"""								G|||	1	0.000199681	0.0	0.0014	5008	,	,		17281	0.0		0.0	False		,,,				2504	0.0				p.F1315F			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3945T	22						.	G		0,4016		0,0,2008	71.0	78.0	75.0		3945	-6.5	0.6	22		75	1,8357		0,1,4178	no	coding-synonymous	MN1	NM_002430.2		0,1,6186	AA,AG,GG		0.012,0.0,0.0081		1315/1321	28146921	1,12373	2008	4179	6187	26476921	SO:0001819	synonymous_variant	4330	exon2			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.3945C>T	22.37:g.28146921G>A			26476921	NM_002430	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				0.587	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
PITPNB	23760	broad.mit.edu	37	22	28292579	28292579	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:28292579G>A	ENST00000335272.5	-	6	409	c.333C>T	c.(331-333)atC>atT	p.I111I	PITPNB_ENST00000320996.10_Silent_p.I111I|PITPNB_ENST00000455418.3_Silent_p.I113I	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	111					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)	p.I111I(1)		large_intestine(4)|lung(3)|skin(1)	8						GCCATGTTTCGATTTTAATGA	0.373																																					p.I111I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333T	22						.						96.0	88.0	91.0					22																	28292579		2203	4297	6500	26622579	SO:0001819	synonymous_variant	23760	exon6			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.333C>T	22.37:g.28292579G>A			26622579	NM_012399	B3KYB8|B7Z7Q0|Q8N5W1	Silent	SNP	ENST00000335272.5	37	CCDS13842.1																																																																																				0.373	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1		
THOC5	8563	broad.mit.edu	37	22	29935452	29935452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:29935452C>A	ENST00000490103.1	-	6	588	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	THOC5_ENST00000397871.1_Nonsense_Mutation_p.E156*|THOC5_ENST00000397872.1_Nonsense_Mutation_p.E156*|THOC5_ENST00000397873.2_Nonsense_Mutation_p.E156*	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	156	Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)	p.E156*(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGATCAATTTCTTCATGCTTT	0.453																																					p.E156X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G466T	22						.						85.0	81.0	82.0					22																	29935452		2203	4300	6503	28265452	SO:0001587	stop_gained	8563	exon6			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.466G>T	22.37:g.29935452C>A	ENSP00000420306:p.Glu156*		28265452	NM_003678	O60839|Q9UPZ5	Nonsense_Mutation	SNP	ENST00000490103.1	37	CCDS13859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.700672|6.700672	0.97772|0.97772	.|.	.|.	ENSG00000100296|ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374|ENST00000443089	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79587	.|0.4471	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77795	.|-0.2454	.|3	0.28530|.	T|.	0.3|.	-4.374|-4.374	19.6484|19.6484	0.95791|0.95791	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	156;156;156;156;156;152;156|15	.|.	ENSP00000380969:E156X|.	E|R	-|-	1|2	0|0	THOC5|THOC5	28265452|28265452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	7.615000|7.615000	0.83006|0.83006	2.646000|2.646000	0.89796|0.89796	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.453	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	
NIPSNAP1	8508	broad.mit.edu	37	22	29954909	29954909	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:29954909C>T	ENST00000216121.7	-	9	994	c.740G>A	c.(739-741)cGa>cAa	p.R247Q		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	247					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.R247Q(1)		large_intestine(2)|lung(2)|skin(1)	5						GGCAGCGTTTCGAGTCTCCTC	0.547																																					p.R247Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G740A	22						.						114.0	101.0	105.0					22																	29954909		2203	4300	6503	28284909	SO:0001583	missense	8508	exon9			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.740G>A	22.37:g.29954909C>T	ENSP00000216121:p.Arg247Gln		28284909	NM_003634	B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	C	35	5.439937	0.96168	.	.	ENSG00000184117	ENST00000216121	T	0.67698	-0.28	4.62	4.62	0.57501	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	M	0.87097	2.86	0.80722	D	1	P;D	0.53151	0.814;0.958	B;P	0.50049	0.409;0.629	D	0.84133	0.0413	10	0.87932	D	0	-17.0585	17.5999	0.88023	0.0:1.0:0.0:0.0	.	227;247	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	Q	247	ENSP00000216121:R247Q	ENSP00000216121:R247Q	R	-	2	0	NIPSNAP1	28284909	0.998000	0.40836	0.998000	0.56505	0.992000	0.81027	7.288000	0.78691	2.574000	0.86865	0.561000	0.74099	CGA		0.547	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1		
SEC14L3	266629	broad.mit.edu	37	22	30864665	30864665	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:30864665G>A	ENST00000215812.4	-	5	343	c.253C>T	c.(253-255)Cct>Tct	p.P85S	SEC14L3_ENST00000415957.2_Missense_Mutation_p.P26S|SEC14L3_ENST00000539629.1_Missense_Mutation_p.P26S|SEC14L3_ENST00000540910.1_Missense_Mutation_p.P8S|SEC14L3_ENST00000402286.1_Missense_Mutation_p.P8S|SEC14L3_ENST00000403066.1_Missense_Mutation_p.P26S|SEC14L3_ENST00000401751.1_Missense_Mutation_p.P26S	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	85	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGGCCCCCAGGCATGTACTTC	0.567																																					p.P85S	Esophageal Squamous(108;290 1516 3584 23771 37333)											.	.	0			c.C253T	22						.						123.0	111.0	115.0					22																	30864665		2203	4300	6503	29194665	SO:0001583	missense	266629	exon5			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.253C>T	22.37:g.30864665G>A	ENSP00000215812:p.Pro85Ser		29194665	NM_174975	E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	G	1.210	-0.630094	0.03610	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	4.55	2.45	0.29901	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.191707	0.47455	N	0.000238	T	0.48447	0.1500	N	0.16037	0.36	0.80722	D	1	B;B	0.24186	0.025;0.099	B;B	0.30251	0.034;0.113	T	0.38672	-0.9650	10	0.02654	T	1	-2.6926	3.8892	0.09111	0.2674:0.0:0.5224:0.2102	.	8;85	E9PE57;Q9UDX4	.;S14L3_HUMAN	S	26;26;85;8;26;26;8	ENSP00000385941:P26S;ENSP00000401864:P26S;ENSP00000215812:P85S;ENSP00000385004:P8S;ENSP00000383896:P26S;ENSP00000444691:P26S;ENSP00000439752:P8S	ENSP00000215812:P85S	P	-	1	0	SEC14L3	29194665	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.017000	0.49615	0.471000	0.27319	0.637000	0.83480	CCT		0.567	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975	
EIF4ENIF1	56478	broad.mit.edu	37	22	31854494	31854494	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:31854494G>T	ENST00000397525.1	-	7	1153	c.930C>A	c.(928-930)ttC>ttA	p.F310L	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.F147L|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.F310L|EIF4ENIF1_ENST00000382180.2_5'Flank|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.F310L|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	310						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.F310L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGGTTAAAGAACTCATTAA	0.468																																					p.F310L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C930A	22						.						77.0	68.0	71.0					22																	31854494		2203	4300	6503	30184494	SO:0001583	missense	56478	exon7			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.930C>A	22.37:g.31854494G>T	ENSP00000380659:p.Phe310Leu		30184494	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612160	0.87258	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.74	5.74	0.90152	.	0.047117	0.85682	D	0.000000	T	0.71169	0.3308	M	0.69823	2.125	0.80722	D	1	D;B	0.63046	0.992;0.068	D;B	0.76071	0.987;0.062	T	0.67906	-0.5549	9	0.27082	T	0.32	-7.64	10.446	0.44495	0.1481:0.0:0.8519:0.0	.	147;310	B1AKL3;Q9NRA8	.;4ET_HUMAN	L	147;310;310;310;310	.	ENSP00000328103:F310L	F	-	3	2	EIF4ENIF1	30184494	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.021000	0.64072	2.723000	0.93209	0.655000	0.94253	TTC		0.468	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
EIF4ENIF1	56478	broad.mit.edu	37	22	31859810	31859810	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:31859810G>A	ENST00000397525.1	-	5	665	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R148C|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R148C|RP11-247I13.11_ENST00000464523.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	148	Arg-rich.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.R148C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCAAGCAGACGAAGCCCATCA	0.572																																					p.R148C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C442T	22						.						123.0	107.0	112.0					22																	31859810		2203	4300	6503	30189810	SO:0001583	missense	56478	exon5			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.442C>T	22.37:g.31859810G>A	ENSP00000380659:p.Arg148Cys		30189810	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150675	0.94645	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81247	-0.1019	9	0.59425	D	0.04	-11.0661	18.8921	0.92408	0.0:0.0:1.0:0.0	.	148	Q9NRA8	4ET_HUMAN	C	148	.	ENSP00000328103:R148C	R	-	1	0	EIF4ENIF1	30189810	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.075000	0.94004	2.792000	0.96026	0.557000	0.71058	CGT		0.572	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
SFI1	9814	broad.mit.edu	37	22	31981079	31981079	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:31981079G>A	ENST00000400288.2	+	14	1477	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	SFI1_ENST00000400289.1_Missense_Mutation_p.E376K|SFI1_ENST00000540643.1_Missense_Mutation_p.E403K|SFI1_ENST00000414585.1_Missense_Mutation_p.E305K|SFI1_ENST00000432498.1_Missense_Mutation_p.E427K|SFI1_ENST00000443326.1_Missense_Mutation_p.E376K|SFI1_ENST00000443011.1_Missense_Mutation_p.E305K	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	458					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.E458K(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAAATGTATCGAATTGTGGCT	0.398																																					p.E427K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1279A	22						.						108.0	99.0	102.0					22																	31981079		1846	4089	5935	30311079	SO:0001583	missense	9814	exon13			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1372G>A	22.37:g.31981079G>A	ENSP00000383145:p.Glu458Lys		30311079	NM_014775	A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	2.286	-0.363668	0.05103	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.13089	3.17;3.17;3.01;3.0;3.02;3.01;3.18;2.62	5.49	-0.723	0.11181	.	1.062570	0.07163	N	0.851000	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0;0.001	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0;0.001	T	0.39333	-0.9619	10	0.02654	T	1	.	5.6565	0.17644	0.3242:0.4302:0.2456:0.0	.	403;376;376;427;458;434	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	K	427;403;376;434;305;305;376;458;73	ENSP00000402679:E427K;ENSP00000443025:E403K;ENSP00000416469:E376K;ENSP00000397148:E305K;ENSP00000401199:E305K;ENSP00000383146:E376K;ENSP00000383145:E458K;ENSP00000398871:E73K	ENSP00000383145:E458K	E	+	1	0	SFI1	30311079	0.002000	0.14202	0.006000	0.13384	0.006000	0.05464	0.003000	0.13083	-0.122000	0.11766	-1.022000	0.02435	GAA		0.398	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775	
DEPDC5	9681	broad.mit.edu	37	22	32215074	32215074	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:32215074G>T	ENST00000382112.3	+	21	1803	c.1733G>T	c.(1732-1734)gGc>gTc	p.G578V	DEPDC5_ENST00000535622.1_Missense_Mutation_p.G578V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.G550V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G578V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G578V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G578V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G578V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.G578V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G578V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	578					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.G578V(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTTCACGTTGGCAGTGCAGAA	0.537																																					p.G578V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1733T	22						.						134.0	140.0	138.0					22																	32215074		2126	4223	6349	30545074	SO:0001583	missense	9681	exon22			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1733G>T	22.37:g.32215074G>T	ENSP00000371546:p.Gly578Val		30545074	NM_014662	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423949	0.83667	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T	0.37411	1.29;1.21;1.57;1.55;1.52;1.2;1.55;1.52;1.55	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.992;1.0;0.997;1.0;0.96;0.999	T	0.43686	-0.9376	10	0.41790	T	0.15	.	18.7742	0.91904	0.0:0.0:1.0:0.0	.	578;550;578;578;578;578	B9EGN9;F5GYZ8;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	V	578;550;578;578;578;578;578;578;578;578	ENSP00000440210:G578V;ENSP00000441358:G550V;ENSP00000266091:G578V;ENSP00000383108:G578V;ENSP00000383105:G578V;ENSP00000371539:G578V;ENSP00000371546:G578V;ENSP00000371545:G578V;ENSP00000383107:G578V	ENSP00000266091:G578V	G	+	2	0	DEPDC5	30545074	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.726000	0.98782	2.676000	0.91093	0.563000	0.77884	GGC		0.537	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662	
BPIFC	254240	broad.mit.edu	37	22	32811962	32811962	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:32811962T>C	ENST00000397452.1	-	15	1451	c.1341A>G	c.(1339-1341)ggA>ggG	p.G447G	BPIFC_ENST00000432451.2_Silent_p.G204G|BPIFC_ENST00000534972.1_Silent_p.G171G|BPIFC_ENST00000300399.3_Silent_p.G447G			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	447						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.G447G(1)									ACAGAGGAAATCCTTGCTGCA	0.373																																					p.G447G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1341G	22						.						74.0	74.0	74.0					22																	32811962		2203	4300	6503	31141962	SO:0001819	synonymous_variant	254240	exon14			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1341A>G	22.37:g.32811962T>C			31141962	NM_174932	A2RRF1	Silent	SNP	ENST00000397452.1	37	CCDS13906.1																																																																																				0.373	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	
MYH9	4627	broad.mit.edu	37	22	36722640	36722640	+	Silent	SNP	C	C	T	rs374395918		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:36722640C>T	ENST00000216181.5	-	5	815	c.585G>A	c.(583-585)gcG>gcA	p.A195A	MYH9_ENST00000401701.1_Silent_p.A195A	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	195	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.A195A(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGTGCGAGGACGCCACGTACG	0.577			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																												p.A195A			Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G585A	22						.	C		1,4405	2.1+/-5.4	0,1,2202	230.0	182.0	199.0		585	-3.5	1.0	22		199	0,8600		0,0,4300	no	coding-synonymous	MYH9	NM_002473.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		195/1961	36722640	1,13005	2203	4300	6503	35052586	SO:0001819	synonymous_variant	4627	exon5	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.585G>A	22.37:g.36722640C>T			35052586	NM_002473	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	CCDS13927.1																																																																																				0.577	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473	
TRIOBP	11078	broad.mit.edu	37	22	38119603	38119603	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:38119603G>A	ENST00000406386.3	+	7	1295	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	347					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.R347Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCTCCCTCACGAAGCACCCAA	0.577																																					p.R347Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040A	22						.						131.0	144.0	140.0					22																	38119603		1912	4112	6024	36449549	SO:0001583	missense	11078	exon7			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1040G>A	22.37:g.38119603G>A	ENSP00000384312:p.Arg347Gln		36449549	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670008	0.29693	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.27402	1.67	4.83	3.82	0.43975	.	.	.	.	.	T	0.16041	0.0386	N	0.16478	0.41	0.21325	N	0.999729	D	0.58268	0.982	B	0.38921	0.285	T	0.04427	-1.0952	9	0.21540	T	0.41	.	9.1586	0.37007	0.1022:0.0:0.8978:0.0	.	347	Q9H2D6	TARA_HUMAN	Q	347	ENSP00000384312:R347Q	ENSP00000384312:R347Q	R	+	2	0	TRIOBP	36449549	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.877000	0.28106	1.057000	0.40506	0.456000	0.33151	CGA		0.577	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
TRIOBP	11078	broad.mit.edu	37	22	38155502	38155502	+	Intron	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:38155502A>G	ENST00000406386.3	+	17	6579				TRIOBP_ENST00000403663.2_Intron|TRIOBP_ENST00000407319.2_Missense_Mutation_p.T422A	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein						actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.T422P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					gcccaaggtcaccccgcctgc	0.572																																					p.T422A												.	.	1	Substitution - Missense(1)	prostate(1)	c.A1264G	22						.						65.0	63.0	64.0					22																	38155502		2203	4300	6503	36485448	SO:0001627	intron_variant	11078	exon8			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6324+231A>G	22.37:g.38155502A>G			36485448	NM_138632	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	0.573	-0.840460	0.02692	.	.	ENSG00000100106	ENST00000407319	.	.	.	4.98	-1.87	0.07737	.	.	.	.	.	T	0.11750	0.0286	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.28106	-1.0054	8	0.06099	T	0.92	.	1.3255	0.02124	0.393:0.3:0.1767:0.1303	.	422	F2Z2W0	.	A	422	.	ENSP00000383913:T422A	T	+	1	0	TRIOBP	36485448	0.034000	0.19679	0.001000	0.08648	0.310000	0.27922	0.008000	0.13197	-0.509000	0.06532	0.523000	0.50628	ACC		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
PLA2G6	8398	broad.mit.edu	37	22	38565252	38565252	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:38565252T>C	ENST00000332509.3	-	2	365	c.182A>G	c.(181-183)aAc>aGc	p.N61S	PLA2G6_ENST00000402064.1_Missense_Mutation_p.N61S|PLA2G6_ENST00000335539.3_Missense_Mutation_p.N61S|PLA2G6_ENST00000447598.2_Missense_Mutation_p.N61S|PLA2G6_ENST00000417303.2_Missense_Mutation_p.N61S|PLA2G6_ENST00000436218.1_Missense_Mutation_p.N61S|PLA2G6_ENST00000435484.1_Missense_Mutation_p.N61S	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	61					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.N61S(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GTTCCTGGGGTTGACCAGGAC	0.582																																					p.N61S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A182G	22						.						83.0	77.0	79.0					22																	38565252		2203	4300	6503	36895198	SO:0001583	missense	8398	exon2			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.182A>G	22.37:g.38565252T>C	ENSP00000333142:p.Asn61Ser		36895198	NM_001199562	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	T	7.582	0.668869	0.14776	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461;ENST00000430886;ENST00000455341	T;T;T;T;T	0.72615	0.1;0.14;0.14;1.41;-0.67	4.81	2.66	0.31614	.	0.194463	0.56097	N	0.000040	T	0.50701	0.1631	L	0.27053	0.805	0.25304	N	0.989254	B;B;B	0.22800	0.075;0.0;0.0	B;B;B	0.18263	0.021;0.002;0.004	T	0.28713	-1.0035	10	0.19590	T	0.45	-19.4627	6.6529	0.22971	0.0:0.2025:0.0:0.7975	.	61;61;61	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	S	61	ENSP00000333142:N61S;ENSP00000335149:N61S;ENSP00000386100:N61S;ENSP00000395464:N61S;ENSP00000393761:N61S	ENSP00000333142:N61S	N	-	2	0	PLA2G6	36895198	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	0.864000	0.27926	0.230000	0.21059	0.454000	0.30748	AAC		0.582	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	
DDX17	10521	broad.mit.edu	37	22	38890735	38890735	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:38890735G>A	ENST00000396821.3	-	8	1213	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.R293C	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	372	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.R372C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GTGTAATCACGAAGGAAATCC	0.453																																					p.R372C	Ovarian(55;1085 1454 6392 21425)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1114T	22						.						184.0	159.0	168.0					22																	38890735		2203	4300	6503	37220681	SO:0001583	missense	10521	exon8			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1114C>T	22.37:g.38890735G>A	ENSP00000380033:p.Arg372Cys		37220681	NM_001098504	B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693872	0.88735	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.05319	3.46;3.46;3.46	5.83	5.83	0.93111	DEAD-like helicase (2);	0.307373	0.41097	D	0.000956	T	0.31734	0.0806	M	0.87617	2.895	0.80722	D	1	D;D;D	0.65815	0.995;0.992;0.995	P;P;D	0.67231	0.462;0.806;0.95	T	0.03184	-1.1063	10	0.59425	D	0.04	-10.3936	20.1338	0.98010	0.0:0.0:1.0:0.0	.	293;374;372	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	C	372;293;372;374	ENSP00000380033:R372C;ENSP00000371046:R293C;ENSP00000385536:R372C	ENSP00000371046:R293C	R	-	1	0	DDX17	37220681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.875000	0.69660	2.770000	0.95276	0.655000	0.94253	CGT		0.453	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881	
MGAT3	4248	broad.mit.edu	37	22	39883396	39883396	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:39883396C>T	ENST00000341184.6	+	2	259	c.44C>T	c.(43-45)gCc>gTc	p.A15V		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	15					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.A15V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TTCTGTATGGCCGGCCTGTGC	0.567																																					p.A15V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C44T	22						.						201.0	192.0	195.0					22																	39883396		2203	4300	6503	38213342	SO:0001583	missense	4248	exon1			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.44C>T	22.37:g.39883396C>T	ENSP00000345270:p.Ala15Val		38213342	NM_001098270	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348682	0.61183	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	5.15	5.15	0.70609	.	0.068697	0.56097	D	0.000022	T	0.43897	0.1268	N	0.17082	0.46	0.43203	D	0.995059	B	0.21753	0.06	B	0.17098	0.017	T	0.26155	-1.0111	9	0.25751	T	0.34	.	18.6374	0.91383	0.0:1.0:0.0:0.0	.	15	Q09327	MGAT3_HUMAN	V	15;15;43	.	ENSP00000345270:A15V	A	+	2	0	MGAT3	38213342	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.354000	0.59417	2.397000	0.81536	0.467000	0.42956	GCC		0.567	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409	
MGAT3	4248	broad.mit.edu	37	22	39884006	39884006	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:39884006C>T	ENST00000341184.6	+	2	869	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	218					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)	p.F218F(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACCACGAGTTCGACCTGCTGG	0.652																																					p.F218F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C654T	22						.						48.0	37.0	41.0					22																	39884006		2203	4300	6503	38213952	SO:0001819	synonymous_variant	4248	exon1			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.654C>T	22.37:g.39884006C>T			38213952	NM_001098270	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	CCDS13994.2																																																																																				0.652	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409	
ADSL	158	broad.mit.edu	37	22	40745899	40745899	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:40745899G>A	ENST00000216194.7	+	2	273	c.217G>A	c.(217-219)Gac>Aac	p.D73N	ADSL_ENST00000342312.6_Missense_Mutation_p.D73N|ADSL_ENST00000454266.2_Missense_Mutation_p.D73N	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	73					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.D73N(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GGAGAACATCGACTTCAAGAT	0.428																																					p.D73N	Colon(4;65 130 1097 1516)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G217A	22						.						122.0	96.0	105.0					22																	40745899		2203	4300	6503	39075845	SO:0001583	missense	158	exon2			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.217G>A	22.37:g.40745899G>A	ENSP00000216194:p.Asp73Asn		39075845	NM_000026	B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790404	0.70337	.	.	ENSG00000239900	ENST00000216194;ENST00000544206;ENST00000425605;ENST00000454266;ENST00000342312	D;D;D	0.96011	-3.79;-3.79;-3.88	5.59	4.58	0.56647	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	L	0.41356	1.27	0.80722	D	1	D;B;P;D	0.56968	0.977;0.357;0.951;0.978	P;B;P;P	0.50617	0.604;0.268;0.527;0.646	D	0.91554	0.5259	10	0.16896	T	0.51	-26.1015	14.3866	0.66949	0.0704:0.0:0.9296:0.0	.	73;73;73;73	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	N	73	ENSP00000216194:D73N;ENSP00000390107:D73N;ENSP00000341429:D73N	ENSP00000216194:D73N	D	+	1	0	ADSL	39075845	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.613000	0.82986	1.378000	0.46305	0.650000	0.86243	GAC		0.428	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026	
SLC25A17	10478	broad.mit.edu	37	22	41173096	41173096	+	Missense_Mutation	SNP	G	G	A	rs371543259		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:41173096G>A	ENST00000435456.2	-	7	774	c.641C>T	c.(640-642)gCg>gTg	p.A214V	SLC25A17_ENST00000402844.3_Missense_Mutation_p.A132V|SLC25A17_ENST00000544408.1_Missense_Mutation_p.A177V|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.A141V	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	214					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)	p.A214V(1)		central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GGTGGCAATCGCTTTGGCTAC	0.463																																					p.A214V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C641T	22						.	G	VAL/ALA	3,4403	6.2+/-15.9	0,3,2200	96.0	80.0	85.0		641	5.7	1.0	22		85	0,8600		0,0,4300	no	missense	SLC25A17	NM_006358.2	64	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	214/308	41173096	3,13003	2203	4300	6503	39503042	SO:0001583	missense	10478	exon7			Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"""Solute carriers"""	10987	protein-coding gene	gene with protein product	"""peroxisomal membrane protein (34kD)"""	606795	"""solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"""			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.641C>T	22.37:g.41173096G>A	ENSP00000390722:p.Ala214Val		39503042	NM_006358	A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Missense_Mutation	SNP	ENST00000435456.2	37	CCDS14005.1	.	.	.	.	.	.	.	.	.	.	G	37	6.053083	0.97241	6.81E-4	0.0	ENSG00000100372	ENST00000435456;ENST00000402844;ENST00000544408;ENST00000542412	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.65	5.65	0.86999	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	L	0.56340	1.77	0.80722	D	1	D;D;D	0.69078	0.986;0.997;0.978	P;P;P	0.57720	0.761;0.826;0.746	T	0.81134	-0.1071	10	0.23302	T	0.38	-8.876	20.1057	0.97893	0.0:0.0:1.0:0.0	.	141;177;214	F5GYD1;B4DU97;O43808	.;.;PM34_HUMAN	V	214;132;177;141	ENSP00000390722:A214V;ENSP00000385303:A132V;ENSP00000438355:A177V;ENSP00000446471:A141V	ENSP00000385303:A132V	A	-	2	0	SLC25A17	39503042	1.000000	0.71417	0.973000	0.42090	0.961000	0.63080	7.660000	0.83776	2.827000	0.97445	0.650000	0.86243	GCG		0.463	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321487.1	NM_006358	
EP300	2033	broad.mit.edu	37	22	41533773	41533773	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:41533773G>A	ENST00000263253.7	+	8	2958	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	580	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.R580Q(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAGGATCTTCGAAATCATCTT	0.433			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.R580Q			Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1739A	22						.						106.0	88.0	94.0					22																	41533773		2203	4300	6503	39863719	SO:0001583	missense	2033	exon8	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1739G>A	22.37:g.41533773G>A	ENSP00000263253:p.Arg580Gln		39863719	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	37	6.264951	0.97426	.	.	ENSG00000100393	ENST00000263253	D	0.93604	-3.25	5.85	5.85	0.93711	Coactivator CBP, KIX (4);	0.000000	0.37577	N	0.002027	D	0.97420	0.9156	M	0.88979	2.995	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.97590	1.0116	10	0.87932	D	0	-9.0799	20.1736	0.98170	0.0:0.0:1.0:0.0	.	580	Q09472	EP300_HUMAN	Q	580	ENSP00000263253:R580Q	ENSP00000263253:R580Q	R	+	2	0	EP300	39863719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.767000	0.95098	0.557000	0.71058	CGA		0.433	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
SREBF2	6721	broad.mit.edu	37	22	42263037	42263037	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:42263037A>G	ENST00000361204.4	+	2	457	c.291A>G	c.(289-291)ttA>ttG	p.L97L		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	97	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L97L(2)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGGTCACATTACCTTCCTTCT	0.612																																					p.L97L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A291G	22						.						148.0	125.0	133.0					22																	42263037		2203	4300	6503	40592983	SO:0001819	synonymous_variant	6721	exon2			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.291A>G	22.37:g.42263037A>G			40592983	NM_004599	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	CCDS14023.1																																																																																				0.612	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599	
CENPM	79019	broad.mit.edu	37	22	42341283	42341283	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:42341283G>A	ENST00000215980.5	-	4	343	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	CENPM_ENST00000402338.1_Missense_Mutation_p.R52C|CENPM_ENST00000402420.1_Missense_Mutation_p.A80V|CENPM_ENST00000404067.1_Missense_Mutation_p.R52C|CENPM_ENST00000407253.3_Missense_Mutation_p.R86C	NM_024053.3	NP_076958.1	Q9NSP4	CENPM_HUMAN	centromere protein M	86					mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.R86C(1)		kidney(1)|large_intestine(1)|prostate(1)	3						TCCACATGGCGCAGGGACTCC	0.552																																					p.R86C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C256T	22						.						89.0	72.0	78.0					22																	42341283		2203	4300	6503	40671229	SO:0001583	missense	79019	exon4			BC000705	CCDS14025.1, CCDS46719.1, CCDS46720.1	22q13.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000100162	ENSG00000100162			18352	protein-coding gene	gene with protein product		610152	"""chromosome 22 open reading frame 18"""	C22orf18		16622420, 16622419	Standard	NM_001110215		Approved	Pane1, CENP-M, MGC861	uc003bbn.3	Q9NSP4	OTTHUMG00000151277	ENST00000215980.5:c.256C>T	22.37:g.42341283G>A	ENSP00000215980:p.Arg86Cys		40671229	NM_024053	A7LM22|B1AHQ9|Q6I9W3	Missense_Mutation	SNP	ENST00000215980.5	37	CCDS14025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.33|12.33	1.905063|1.905063	0.33628|0.33628	.|.	.|.	ENSG00000100162|ENSG00000100162	ENST00000402420|ENST00000215980;ENST00000404067;ENST00000402338;ENST00000407253	.|.	.|.	.|.	5.71|5.71	-7.01|-7.01	0.01594|0.01594	.|.	.|1.629850	.|0.03215	.|N	.|0.176654	T|T	0.17109|0.17109	0.0411|0.0411	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.0;0.0	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.18871|0.18871	-1.0323|-1.0323	6|9	0.66056|0.52906	D|T	0.02|0.07	-21.7514|-21.7514	3.1857|3.1857	0.06599|0.06599	0.4636:0.1419:0.2961:0.0985|0.4636:0.1419:0.2961:0.0985	.|.	.|86;86;86	.|Q9NSP4-2;B1AHQ9;Q9NSP4	.|.;.;CENPM_HUMAN	V|C	80|86;52;52;86	.|.	ENSP00000384132:A80V|ENSP00000215980:R86C	A|R	-|-	2|1	0|0	CENPM|CENPM	40671229|40671229	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.091000|0.091000	0.18340|0.18340	-0.935000|-0.935000	0.03950|0.03950	-0.903000|-0.903000	0.03881|0.03881	-0.123000|-0.123000	0.14984|0.14984	GCG|CGC		0.552	CENPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322058.1	NM_024053	
SEPT3	55964	broad.mit.edu	37	22	42390329	42390329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:42390329C>T	ENST00000396426.3	+	9	1156	c.901C>T	c.(901-903)Cga>Tga	p.R301*	SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Nonsense_Mutation_p.R237*|SEPT3_ENST00000291236.11_Nonsense_Mutation_p.R237*|SEPT3_ENST00000396425.3_Nonsense_Mutation_p.R301*	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	301	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.R301*(1)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						TGCCCTGCTTCGAGACTTTGT	0.458																																					p.R301X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C901T	22						.						129.0	107.0	115.0					22																	42390329		2203	4300	6503	40720275	SO:0001587	stop_gained	55964	exon9			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.901C>T	22.37:g.42390329C>T	ENSP00000379704:p.Arg301*		40720275	NM_145733	B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Nonsense_Mutation	SNP	ENST00000396426.3	37	CCDS14026.2	.	.	.	.	.	.	.	.	.	.	C	35	5.461809	0.96240	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	.	.	.	5.56	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3989	0.49858	0.1257:0.8064:0.0:0.0679	.	.	.	.	X	301;237;301;237	.	ENSP00000291236:R237X	R	+	1	2	SEPT3	40720275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.029000	0.57253	1.502000	0.48669	0.557000	0.71058	CGA		0.458	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322051.1	NM_145734	
NAGA	4668	broad.mit.edu	37	22	42457067	42457067	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:42457067T>G	ENST00000396398.3	-	8	1494	c.962A>C	c.(961-963)aAa>aCa	p.K321T	NAGA_ENST00000403363.1_Missense_Mutation_p.K321T|NAGA_ENST00000402937.1_Missense_Mutation_p.K321T	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	321					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)	p.K321T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GATGAGAGATTTTTCCTGGGC	0.572																																					p.K321T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A962C	22						.						90.0	74.0	79.0					22																	42457067		2203	4300	6503	40787013	SO:0001583	missense	4668	exon8				CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.962A>C	22.37:g.42457067T>G	ENSP00000379680:p.Lys321Thr		40787013	NM_000262		Missense_Mutation	SNP	ENST00000396398.3	37	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	T	6.789	0.514610	0.12944	.	.	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.88354	-2.37;-2.37;-2.37	5.68	3.51	0.40186	Glycosyl hydrolase, family 13, all-beta (1);	0.512549	0.22540	N	0.058732	T	0.80696	0.4672	L	0.37466	1.105	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.65957	-0.6042	10	0.30854	T	0.27	-8.4576	5.8943	0.18931	0.0:0.1392:0.1451:0.7157	.	321	P17050	NAGAB_HUMAN	T	321	ENSP00000379680:K321T;ENSP00000385283:K321T;ENSP00000384603:K321T	ENSP00000379680:K321T	K	-	2	0	NAGA	40787013	0.997000	0.39634	0.011000	0.14972	0.035000	0.12851	3.237000	0.51344	0.933000	0.37291	0.496000	0.49642	AAA		0.572	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1		
TCF20	6942	broad.mit.edu	37	22	42606555	42606555	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:42606555C>A	ENST00000359486.3	-	1	4893	c.4757G>T	c.(4756-4758)aGa>aTa	p.R1586I	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.R1586I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGGCTTCCTTCTCTCCCTCCT	0.547																																					p.R1586I												.	.	0			c.G4757T	22						.						124.0	121.0	122.0					22																	42606555		2203	4300	6503	40936499	SO:0001583	missense	6942	exon1			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4757G>T	22.37:g.42606555C>A	ENSP00000352463:p.Arg1586Ile		40936499	NM_005650	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424955	0.62733	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.63417	-0.04;-0.04	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.76575	0.988;0.911	T	0.73636	-0.3920	10	0.72032	D	0.01	-19.0698	20.1577	0.98120	0.0:1.0:0.0:0.0	.	1586;1586	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	I	1586	ENSP00000352463:R1586I;ENSP00000335561:R1586I	ENSP00000335561:R1586I	R	-	2	0	TCF20	40936499	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	2.567000	0.45956	2.767000	0.95098	0.655000	0.94253	AGA		0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
ARFGAP3	26286	broad.mit.edu	37	22	43206915	43206915	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:43206915G>T	ENST00000263245.5	-	12	1319	c.1100C>A	c.(1099-1101)tCt>tAt	p.S367Y	ARFGAP3_ENST00000429508.2_Missense_Mutation_p.S295Y|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.S323Y	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	367	Ser-rich.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.S367Y(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						GCTAGAGAAAGAACTGCTCCT	0.453																																					p.S367Y	GBM(58;544 1030 21460 27159 48838)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1100A	22						.						115.0	111.0	112.0					22																	43206915		2203	4300	6503	41536859	SO:0001583	missense	26286	exon12			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1100C>A	22.37:g.43206915G>T	ENSP00000263245:p.Ser367Tyr		41536859	NM_014570	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	CCDS14042.1	.	.	.	.	.	.	.	.	.	.	G	9.513	1.106266	0.20632	.	.	ENSG00000242247	ENST00000263245;ENST00000429508;ENST00000437119	T;T;T	0.06608	3.42;3.28;3.4	4.92	3.89	0.44902	.	0.509864	0.21050	N	0.081010	T	0.07234	0.0183	L	0.50919	1.6	0.09310	N	0.999998	B;P	0.44281	0.263;0.831	B;B	0.43251	0.14;0.413	T	0.08576	-1.0715	10	0.02654	T	1	-24.3607	12.4067	0.55443	0.0:0.1703:0.8296:0.0	.	323;367	E9PB03;Q9NP61	.;ARFG3_HUMAN	Y	367;295;323	ENSP00000263245:S367Y;ENSP00000393959:S295Y;ENSP00000388791:S323Y	ENSP00000263245:S367Y	S	-	2	0	ARFGAP3	41536859	0.950000	0.32346	0.106000	0.21319	0.378000	0.30076	2.784000	0.47774	1.011000	0.39340	0.655000	0.94253	TCT		0.453	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	
EFCAB6	64800	broad.mit.edu	37	22	43972309	43972309	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:43972309T>C	ENST00000262726.7	-	26	3541	c.3288A>G	c.(3286-3288)caA>caG	p.Q1096Q	EFCAB6_ENST00000396231.2_Silent_p.Q944Q	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1096	EF-hand 12. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.Q1096Q(1)		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)				CCTTAAGAACTTGTCCGAATT	0.318																																					p.Q944Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2832G	22						.						66.0	70.0	69.0					22																	43972309		2203	4299	6502	42303642	SO:0001819	synonymous_variant	64800	exon24			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.3288A>G	22.37:g.43972309T>C			42303642	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	CCDS14049.1																																																																																				0.318	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	44022549	44022549	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:44022549G>T	ENST00000262726.7	-	20	2496	c.2243C>A	c.(2242-2244)tCt>tAt	p.S748Y	EFCAB6_ENST00000396231.2_Missense_Mutation_p.S596Y	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	748	EF-hand 8. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S748F(1)|p.S748Y(1)		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)				AAAGAAGGCAGAGTAGGGGTC	0.512																																					p.S596Y												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.C1787A	22						.						60.0	60.0	60.0					22																	44022549		2202	4288	6490	42353882	SO:0001583	missense	64800	exon18			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.2243C>A	22.37:g.44022549G>T	ENSP00000262726:p.Ser748Tyr		42353882	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252407	0.39797	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.08282	3.11;3.11	4.84	4.84	0.62591	EF-hand-like domain (1);	0.471931	0.20158	N	0.098012	T	0.20047	0.0482	L	0.53249	1.67	0.47214	D	0.999354	D;D	0.76494	0.983;0.999	P;D	0.65443	0.874;0.935	T	0.00130	-1.2014	10	0.72032	D	0.01	-8.4492	8.9632	0.35860	0.0987:0.0:0.9013:0.0	.	596;748	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	Y	596;748	ENSP00000379533:S596Y;ENSP00000262726:S748Y	ENSP00000262726:S748Y	S	-	2	0	EFCAB6	42353882	0.969000	0.33509	0.295000	0.24960	0.288000	0.27193	4.700000	0.61803	2.497000	0.84241	0.563000	0.77884	TCT		0.512	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	44074010	44074010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:44074010G>A	ENST00000262726.7	-	13	1538	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	EFCAB6_ENST00000358439.4_3'UTR|EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.R277*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	429	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R429*(2)		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)				AGAATATATCGAAATTCTTCT	0.363																																					p.R277X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C829T	22						.						90.0	90.0	90.0					22																	44074010		2203	4300	6503	42405343	SO:0001587	stop_gained	64800	exon11			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.1285C>T	22.37:g.44074010G>A	ENSP00000262726:p.Arg429*		42405343	NM_198856	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873062	0.91664	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	4.96	2.83	0.33086	.	0.632034	0.14820	N	0.296533	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-2.8467	6.0296	0.19673	0.0952:0.0:0.7174:0.1874	.	.	.	.	X	277;429	.	ENSP00000262726:R429X	R	-	1	2	EFCAB6	42405343	0.069000	0.21087	0.025000	0.17156	0.044000	0.14063	1.192000	0.32150	0.766000	0.33244	0.650000	0.86243	CGA		0.363	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EFCAB6	64800	broad.mit.edu	37	22	44178128	44178128	+	Missense_Mutation	SNP	C	C	A	rs147913121	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:44178128C>A	ENST00000262726.7	-	3	324	c.71G>T	c.(70-72)aGa>aTa	p.R24I	EFCAB6_ENST00000358439.4_5'UTR|EFCAB6_ENST00000356087.4_5'UTR|EFCAB6_ENST00000396231.2_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R24I(1)		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)				AGAATGGGGTCTTGAATGTGT	0.373																																					p.R24I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G71T	22						.						229.0	209.0	216.0					22																	44178128		2203	4300	6503	42509461	SO:0001583	missense	64800	exon3			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.71G>T	22.37:g.44178128C>A	ENSP00000262726:p.Arg24Ile		42509461	NM_022785	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735628	0.69189	.	.	ENSG00000186976	ENST00000262726	T	0.24908	1.83	4.47	4.47	0.54385	.	0.000000	0.41294	D	0.000908	T	0.47284	0.1437	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.40175	-0.9577	10	0.49607	T	0.09	-30.3476	12.8407	0.57800	0.0:1.0:0.0:0.0	.	24;24	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	I	24	ENSP00000262726:R24I	ENSP00000262726:R24I	R	-	2	0	EFCAB6	42509461	0.700000	0.27796	0.472000	0.27241	0.719000	0.41307	1.616000	0.36933	2.485000	0.83878	0.655000	0.94253	AGA		0.373	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
PNPLA3	80339	broad.mit.edu	37	22	44342036	44342036	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:44342036C>T	ENST00000216180.3	+	9	1393	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	PNPLA3_ENST00000423180.2_Missense_Mutation_p.S403F	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	407					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.S407F(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TGTTTCAGGTCCCAAATGCCA	0.622											OREG0026623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S407F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1220T	22						.						126.0	124.0	125.0					22																	44342036		2203	4300	6503	42673369	SO:0001583	missense	80339	exon9				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1220C>T	22.37:g.44342036C>T	ENSP00000216180:p.Ser407Phe	923	42673369	NM_025225	B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780343	0.49891	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.37915	1.17;1.18	3.43	2.39	0.29439	.	0.204785	0.24678	N	0.036488	T	0.49115	0.1538	L	0.49778	1.585	0.19300	N	0.999973	D	0.89917	1.0	D	0.83275	0.996	T	0.22173	-1.0224	10	0.66056	D	0.02	.	8.8401	0.35137	0.0:0.7699:0.2301:0.0	.	407	Q9NST1	PLPL3_HUMAN	F	407;403	ENSP00000216180:S407F;ENSP00000397987:S403F	ENSP00000216180:S407F	S	+	2	0	PNPLA3	42673369	0.024000	0.19004	0.199000	0.23439	0.033000	0.12548	0.000000	0.12993	0.987000	0.38709	0.650000	0.86243	TCC		0.622	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225	
FBLN1	2192	broad.mit.edu	37	22	45931121	45931121	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:45931121G>A	ENST00000327858.6	+	8	921	c.826G>A	c.(826-828)Gat>Aat	p.D276N	FBLN1_ENST00000442170.2_Missense_Mutation_p.D276N|FBLN1_ENST00000402984.3_Missense_Mutation_p.D314N|FBLN1_ENST00000348697.2_Missense_Mutation_p.D276N|FBLN1_ENST00000262722.7_Missense_Mutation_p.D276N|FBLN1_ENST00000340923.5_Missense_Mutation_p.D276N	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	276	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.D276N(3)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTGCCTCCCCGATTTTATCTG	0.433																																					p.D276N												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G826A	22						.						145.0	129.0	134.0					22																	45931121		2203	4300	6503	44309785	SO:0001583	missense	2192	exon8				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.826G>A	22.37:g.45931121G>A	ENSP00000331544:p.Asp276Asn		44309785	NM_006487	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	g	12.26	1.885810	0.33348	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	T;D;D;D;D;D	0.91577	-1.49;-2.87;-2.87;-2.87;-2.87;-2.87	5.56	4.35	0.52113	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.315991	0.37483	N	0.002080	T	0.71467	0.3343	N	0.01535	-0.81	0.34439	D	0.699449	B;B;B;B	0.33857	0.429;0.126;0.057;0.252	B;B;B;B	0.28305	0.088;0.044;0.059;0.053	T	0.76561	-0.2914	10	0.13108	T	0.6	.	11.8531	0.52422	0.1497:0.0:0.8503:0.0	.	314;276;276;276	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	N	276;314;276;276;276;276	ENSP00000262723:D276N;ENSP00000385521:D314N;ENSP00000262722:D276N;ENSP00000331544:D276N;ENSP00000393812:D276N;ENSP00000342212:D276N	ENSP00000262722:D276N	D	+	1	0	FBLN1	44309785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.753000	0.55180	2.647000	0.89833	0.544000	0.68410	GAT		0.433	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	
PKDREJ	10343	broad.mit.edu	37	22	46652465	46652465	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:46652465A>C	ENST00000253255.5	-	1	6754	c.6755T>G	c.(6754-6756)gTt>gGt	p.V2252G		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2252					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.V2252G(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCATCAAACAACAAGGTAAAC	0.468																																					p.V2252G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6755G	22						.						144.0	132.0	136.0					22																	46652465		2203	4300	6503	45031129	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6755T>G	22.37:g.46652465A>C	ENSP00000253255:p.Val2252Gly		45031129	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655146	0.67472	.	.	ENSG00000130943	ENST00000253255	T	0.40756	1.02	5.71	5.71	0.89125	.	0.534639	0.16926	N	0.193872	T	0.53238	0.1784	L	0.32530	0.975	0.44745	D	0.997743	D	0.89917	1.0	D	0.74674	0.984	T	0.50466	-0.8825	10	0.49607	T	0.09	-28.3413	13.6687	0.62412	1.0:0.0:0.0:0.0	.	2252	Q9NTG1	PKDRE_HUMAN	G	2252	ENSP00000253255:V2252G	ENSP00000253255:V2252G	V	-	2	0	PKDREJ	45031129	0.345000	0.24835	0.093000	0.20910	0.755000	0.42902	2.883000	0.48554	2.313000	0.78055	0.455000	0.32223	GTT		0.468	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
PKDREJ	10343	broad.mit.edu	37	22	46657202	46657202	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:46657202T>A	ENST00000253255.5	-	1	2017	c.2018A>T	c.(2017-2019)aAa>aTa	p.K673I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	673	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.K673I(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGATGAATTTTTGTCAGTGGG	0.423																																					p.K673I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2018T	22						.						72.0	80.0	77.0					22																	46657202		2202	4300	6502	45035866	SO:0001583	missense	10343	exon1			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2018A>T	22.37:g.46657202T>A	ENSP00000253255:p.Lys673Ile		45035866	NM_006071	B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	11.26	1.586542	0.28268	.	.	ENSG00000130943	ENST00000253255	T	0.69926	-0.44	5.27	-2.03	0.07365	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.515150	0.03736	N	0.254181	T	0.52191	0.1719	L	0.36672	1.1	0.09310	N	1	B	0.17667	0.023	B	0.15052	0.012	T	0.24404	-1.0161	10	0.39692	T	0.17	-0.007	2.9036	0.05713	0.26:0.4329:0.1202:0.1868	.	673	Q9NTG1	PKDRE_HUMAN	I	673	ENSP00000253255:K673I	ENSP00000253255:K673I	K	-	2	0	PKDREJ	45035866	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.285000	0.02791	-0.414000	0.07495	0.533000	0.62120	AAA		0.423	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071	
BRD1	23774	broad.mit.edu	37	22	50217433	50217433	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:50217433A>G	ENST00000216267.8	-	1	1019	c.533T>C	c.(532-534)gTc>gCc	p.V178A	BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.V178A|BRD1_ENST00000457780.2_Missense_Mutation_p.V178A|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404034.1_Missense_Mutation_p.V178A|BRD1_ENST00000542442.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	178					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACGGCGGGGACGCAGTCGCC	0.587																																					p.V178A												.	.	0			c.T533C	22						.						85.0	66.0	72.0					22																	50217433		2203	4300	6503	48603437	SO:0001583	missense	23774	exon1			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.533T>C	22.37:g.50217433A>G	ENSP00000216267:p.Val178Ala		48603437	NM_014577	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	A	9.091	1.001630	0.19121	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.72	3.68	0.42216	Enhancer of polycomb-like, N-terminal (1);	0.335675	0.31461	N	0.007608	T	0.29882	0.0747	L	0.38953	1.18	0.19775	N	0.999957	B;B;B	0.16802	0.019;0.005;0.015	B;B;B	0.16289	0.015;0.015;0.009	T	0.11717	-1.0576	9	.	.	.	.	9.6397	0.39831	0.9169:0.0:0.0831:0.0	.	178;178;178	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	A	178	ENSP00000216267:V178A;ENSP00000384076:V178A;ENSP00000385858:V178A;ENSP00000410042:V178A	.	V	-	2	0	BRD1	48603437	0.385000	0.25172	0.042000	0.18584	0.885000	0.51271	4.737000	0.62066	1.756000	0.51951	0.372000	0.22366	GTC		0.587	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	
MOV10L1	54456	broad.mit.edu	37	22	50599253	50599253	+	Splice_Site	SNP	G	G	A	rs149143559		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr22:50599253G>A	ENST00000262794.5	+	25	3544	c.3461G>A	c.(3460-3462)cGa>cAa	p.R1154Q	MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000540615.1_Splice_Site_p.R1134Q|MOV10L1_ENST00000395852.1_Splice_Site_p.R281Q|MOV10L1_ENST00000545383.1_Splice_Site_p.R1154Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1154					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.R1154Q(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTTCTCGTTCGAGTGAGTTTT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		16211	0.0		0.001	False		,,,				2504	0.0				p.R1134Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3401A	22						.	G	,GLN/ARG,GLN/ARG,GLN/ARG	1,4405		0,1,2202	101.0	105.0	104.0		,3401,842,3461	-0.2	0.1	22	dbSNP_134	104	5,8595		0,5,4295	yes	intron,missense-near-splice,missense-near-splice,missense-near-splice	MOV10L1	NM_001164104.1,NM_001164105.1,NM_001164106.1,NM_018995.2	,43,43,43	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	,benign,benign,benign	,1134/1166,281/339,1154/1212	50599253	6,13000	2203	4300	6503	48941380	SO:0001630	splice_region_variant	54456	exon25			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3462+1G>A	22.37:g.50599253G>A			48941380	NM_001164105	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	12.71	2.020864	0.35606	2.27E-4	5.81E-4	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000540615;ENST00000395852	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.68	-0.25	0.13007	.	0.335472	0.33938	N	0.004414	T	0.53465	0.1798	N	0.14661	0.345	0.38637	D	0.951511	D;B;B	0.53312	0.959;0.018;0.133	B;B;B	0.34652	0.187;0.007;0.015	T	0.55661	-0.8106	10	0.13470	T	0.59	-7.2934	8.9452	0.35753	0.7162:0.0:0.2838:0.0	.	1134;281;1154	F5H403;Q9BXT6-2;Q9BXT6	.;.;M10L1_HUMAN	Q	1154;1154;1134;281	ENSP00000438978:R1154Q;ENSP00000262794:R1154Q;ENSP00000438542:R1134Q;ENSP00000379193:R281Q	ENSP00000262794:R1154Q	R	+	2	0	MOV10L1	48941380	1.000000	0.71417	0.095000	0.20976	0.346000	0.29079	2.885000	0.48570	0.023000	0.15187	-0.148000	0.13756	CGA		0.507	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	Missense_Mutation
MAP4K4	9448	broad.mit.edu	37	2	102482895	102482895	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:102482895T>G	ENST00000347699.4	+	18	1976	c.1976T>G	c.(1975-1977)aTt>aGt	p.I659S	MAP4K4_ENST00000302217.5_Missense_Mutation_p.I459S|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I575S|MAP4K4_ENST00000413150.2_Missense_Mutation_p.I574S|MAP4K4_ENST00000324219.4_Missense_Mutation_p.I737S|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I628S|MAP4K4_ENST00000456652.1_Missense_Mutation_p.I458S|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I632S	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	659					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.I737S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AACAGCAGTATTGAGCCCAGG	0.527																																					p.I629S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1886G	2						.						57.0	58.0	57.0					2																	102482895		1912	4141	6053	101849327	SO:0001583	missense	9448	exon18			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1976T>G	2.37:g.102482895T>G	ENSP00000314363:p.Ile659Ser		101849327	NM_145687	O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.558|7.558	0.664174|0.664174	0.14710|0.14710	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.10960|.	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.135279|.	0.50627|.	D|.	0.000117|.	T|.	0.41351|.	0.1155|.	N|N	0.11313|0.11313	0.125|0.125	0.58432|0.58432	D|D	0.999992|0.999992	B;B;B;B;B;P;D;B;P;P|.	0.56968|.	0.063;0.063;0.063;0.063;0.103;0.944;0.978;0.103;0.842;0.745|.	B;B;B;B;B;B;D;B;B;B|.	0.66196|.	0.039;0.039;0.039;0.039;0.059;0.374;0.942;0.059;0.359;0.425|.	T|.	0.35375|.	-0.9791|.	10|.	0.06891|.	T|.	0.86|.	.|.	15.6523|15.6523	0.77108|0.77108	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	632;652;458;459;574;659;628;575;628;737|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	S|X	628;737;575;459;574;458;659;590;632|475	ENSP00000392830:I628S;ENSP00000313644:I737S;ENSP00000281111:I575S;ENSP00000303600:I459S;ENSP00000389752:I574S;ENSP00000387370:I458S;ENSP00000314363:I659S;ENSP00000409720:I590S;ENSP00000343658:I632S|.	ENSP00000303600:I459S|.	I|Y	+|+	2|3	0|2	MAP4K4|MAP4K4	101849327|101849327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	4.225000|4.225000	0.58600|0.58600	2.086000|2.086000	0.62901|0.62901	0.459000|0.459000	0.35465|0.35465	ATT|TAT		0.527	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834	
RRM2	6241	broad.mit.edu	37	2	10268989	10268989	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:10268989T>G	ENST00000304567.5	+	8	882	c.813T>G	c.(811-813)gaT>gaG	p.D271E	RRM2_ENST00000360566.2_Missense_Mutation_p.D331E	NM_001034.3	NP_001025.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	271					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)	Cladribine(DB00242)|Gallium nitrate(DB05260)	TACACTGTGATTTTGCTTGCC	0.373																																					p.D331E												.	.	0			c.T993G	2						.						104.0	99.0	100.0					2																	10268989		2203	4300	6503	10186440	SO:0001583	missense	6241	exon8				CCDS1669.1, CCDS54334.1	2p25-p24	2012-10-02	2009-07-10		ENSG00000171848	ENSG00000171848	1.17.4.1		10452	protein-coding gene	gene with protein product		180390	"""ribonucleotide reductase M2 polypeptide"""				Standard	NM_001034		Approved		uc021vdr.1	P31350	OTTHUMG00000090449	ENST00000304567.5:c.813T>G	2.37:g.10268989T>G	ENSP00000302955:p.Asp271Glu		10186440	NM_001165931	B2R9B5|J3KP43|Q5WRU7	Missense_Mutation	SNP	ENST00000304567.5	37	CCDS1669.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785952	0.49997	.	.	ENSG00000171848	ENST00000360566;ENST00000304567;ENST00000474701	D;D;D	0.97186	-4.28;-4.28;-4.28	5.8	2.57	0.30868	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.64630	1.985	0.50467	D	0.99987	B	0.23990	0.095	B	0.24701	0.055	D	0.92840	0.6288	10	0.59425	D	0.04	-26.4978	11.1164	0.48262	0.0:0.696:0.0:0.304	.	271	P31350	RIR2_HUMAN	E	331;271;221	ENSP00000353770:D331E;ENSP00000302955:D271E;ENSP00000419177:D221E	ENSP00000302955:D271E	D	+	3	2	RRM2	10186440	0.997000	0.39634	1.000000	0.80357	0.991000	0.79684	0.539000	0.23175	0.796000	0.33947	-0.248000	0.11899	GAT		0.373	RRM2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364902.2		
MAP4K4	9448	broad.mit.edu	37	2	102490663	102490663	+	Missense_Mutation	SNP	C	C	T	rs375228116		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:102490663C>T	ENST00000347699.4	+	23	2755	c.2755C>T	c.(2755-2757)Cgt>Tgt	p.R919C	MAP4K4_ENST00000302217.5_Missense_Mutation_p.R722C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.R838C|MAP4K4_ENST00000413150.2_Missense_Mutation_p.R834C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R1000C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R952C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R718C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R959C	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	919	Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R1000C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCGGAGATTCGTAAATACAA	0.473																																					p.R892C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2674T	2						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3888		0,0,1944	117.0	115.0	116.0		2755,2743,2509,2857,2674	5.5	1.0	2		116	1,8279		0,1,4139	no	missense,missense,missense,missense,missense	MAP4K4	NM_001242559.1,NM_001242560.1,NM_004834.4,NM_145686.3,NM_145687.3	180,180,180,180,180	0,1,6083	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	919/1240,915/1236,837/1166,953/1274,892/1213	102490663	1,12167	1944	4140	6084	101857095	SO:0001583	missense	9448	exon24			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2755C>T	2.37:g.102490663C>T	ENSP00000314363:p.Arg919Cys		101857095	NM_145687	O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.142239|5.142239	0.94560|0.94560	0.0|0.0	1.21E-4|1.21E-4	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.80824|.	-1.32;-1.25;-1.22;-0.77;-1.25;-0.77;-1.28;-1.42;-1.33|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79185|0.79185	0.4403|0.4403	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|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|.	0.982;0.982;0.995;0.996;0.992;0.998;0.991;0.992;1.0;0.998|.	T|T	0.79514|0.79514	-0.1772|-0.1772	10|5	0.87932|.	D|.	0|.	.|.	19.3044|19.3044	0.94155|0.94155	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	959;915;718;722;837;919;952;838;891;1000|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	C|L	952;1000;838;722;834;718;919;850;959|735	ENSP00000392830:R952C;ENSP00000313644:R1000C;ENSP00000281111:R838C;ENSP00000303600:R722C;ENSP00000389752:R834C;ENSP00000387370:R718C;ENSP00000314363:R919C;ENSP00000409720:R850C;ENSP00000343658:R959C|.	ENSP00000303600:R722C|.	R|S	+|+	1|2	0|0	MAP4K4|MAP4K4	101857095|101857095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.551000|2.551000	0.86045|0.86045	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.473	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834	
SLC9A4	389015	broad.mit.edu	37	2	103124627	103124627	+	Nonsense_Mutation	SNP	C	C	T	rs571221714		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:103124627C>T	ENST00000295269.4	+	5	1745	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	430					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGTGGTGTTCGAGGAGCTGG	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		18494	0.0		0.0	False		,,,				2504	0.001				p.R430X												.	.	0			c.C1288T	2						.						166.0	155.0	159.0					2																	103124627		2203	4300	6503	102491059	SO:0001587	stop_gained	389015	exon5				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1288C>T	2.37:g.103124627C>T	ENSP00000295269:p.Arg430*		102491059	NM_001011552	Q69YK0	Nonsense_Mutation	SNP	ENST00000295269.4	37	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	42	9.316215	0.99135	.	.	ENSG00000180251	ENST00000295269	.	.	.	5.47	2.38	0.29361	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6743	0.68967	0.3843:0.6157:0.0:0.0	.	.	.	.	X	430	.	ENSP00000295269:R430X	R	+	1	2	SLC9A4	102491059	0.994000	0.37717	0.995000	0.50966	0.996000	0.88848	1.227000	0.32576	0.715000	0.32103	0.655000	0.94253	CGA		0.413	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
TGFBRAP1	9392	broad.mit.edu	37	2	105892127	105892127	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:105892127C>T	ENST00000393359.2	-	8	1981	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.D519N			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	519					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.D519N(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGTGTGGAGTCCTGGACATCG	0.413																																					p.D519N	Esophageal Squamous(183;794 2019 9730 21801 48859)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1555A	2						.						130.0	122.0	125.0					2																	105892127		2203	4300	6503	105258559	SO:0001583	missense	9392	exon8			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1555G>A	2.37:g.105892127C>T	ENSP00000377027:p.Asp519Asn		105258559	NM_004257	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638592	0.87760	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.51325	0.71;0.71	5.61	5.61	0.85477	Vacuolar sorting protein 39/Transforming growth factor beta receptor-associated domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.67353	0.2884	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65886	-0.6059	10	0.49607	T	0.09	-42.5472	19.6306	0.95700	0.0:1.0:0.0:0.0	.	519	Q8WUH2	TGFA1_HUMAN	N	519	ENSP00000377027:D519N;ENSP00000258449:D519N	ENSP00000258449:D519N	D	-	1	0	TGFBRAP1	105258559	1.000000	0.71417	0.981000	0.43875	0.384000	0.30261	7.798000	0.85924	2.629000	0.89072	0.655000	0.94253	GAC		0.413	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
NCK2	8440	broad.mit.edu	37	2	106497917	106497917	+	Silent	SNP	C	C	T	rs199727155		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:106497917C>T	ENST00000233154.4	+	4	802	c.360C>T	c.(358-360)ttC>ttT	p.F120F	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.F120F	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	120	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)	p.F120F(1)		endometrium(1)|lung(3)|ovary(1)	5						TCGTCAAGTTCGCCTATGTGG	0.667																																					p.F120F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C360T	2						.						70.0	60.0	63.0					2																	106497917		2203	4300	6503	105864349	SO:0001819	synonymous_variant	8440	exon3			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.360C>T	2.37:g.106497917C>T			105864349	NM_001004720	D3DVK1|Q9BWN9|Q9UIC3	Silent	SNP	ENST00000233154.4	37	CCDS33266.1																																																																																				0.667	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581	
SLC5A7	60482	broad.mit.edu	37	2	108618400	108618400	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:108618400C>T	ENST00000264047.2	+	6	921	c.645C>T	c.(643-645)atC>atT	p.I215I	SLC5A7_ENST00000540517.1_Silent_p.I110I|SLC5A7_ENST00000409059.1_Silent_p.I215I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	215					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.I215I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCGCAGACATCGGGTTCACTG	0.488																																					p.I215I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C645T	2						.						222.0	211.0	214.0					2																	108618400		2203	4300	6503	107984832	SO:0001819	synonymous_variant	60482	exon6			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.645C>T	2.37:g.108618400C>T			107984832	NM_021815	Q53TF2	Silent	SNP	ENST00000264047.2	37	CCDS2074.1																																																																																				0.488	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
SULT1C2	6819	broad.mit.edu	37	2	108917317	108917317	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:108917317C>T	ENST00000437390.2	+	4	520	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000251481.6_Missense_Mutation_p.P101S|SULT1C2_ENST00000326853.5_Intron			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	107	Substrate binding. {ECO:0000250}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.P101S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAAAGCAATGCCCTCTCCACG	0.488																																					p.P101S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301T	2						.						170.0	190.0	183.0					2																	108917317		2203	4300	6503	108283749	SO:0001583	missense	6819	exon4			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.343C>T	2.37:g.108917317C>T	ENSP00000399651:p.Pro115Ser		108283749	NM_001056	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.151106|2.151106	0.38021|0.38021	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000409067|ENST00000251481;ENST00000437390	.|D;D	.|0.81996	.|-1.56;-1.56	4.31|4.31	3.43|3.43	0.39272|0.39272	.|Sulfotransferase domain (1);	.|.	.|.	.|.	.|.	T|T	0.80859|0.80859	0.4704|0.4704	M|M	0.66939|0.66939	2.045|2.045	0.30920|0.30920	N|N	0.728126|0.728126	.|B;B	.|0.24675	.|0.109;0.109	.|B;B	.|0.21360	.|0.034;0.034	T|T	0.78811|0.78811	-0.2057|-0.2057	5|9	.|0.54805	.|T	.|0.06	.|.	12.2096|12.2096	0.54371|0.54371	0.0:0.6703:0.3297:0.0|0.0:0.6703:0.3297:0.0	.|.	.|115;101	.|B4DLP0;O00338	.|.;ST1C2_HUMAN	V|S	97|101;115	.|ENSP00000251481:P101S;ENSP00000399651:P115S	.|ENSP00000251481:P101S	A|P	+|+	2|1	0|0	SULT1C2|SULT1C2	108283749|108283749	1.000000|1.000000	0.71417|0.71417	0.934000|0.934000	0.37439|0.37439	0.910000|0.910000	0.53928|0.53928	2.495000|2.495000	0.45337|0.45337	1.010000|1.010000	0.39314|0.39314	0.591000|0.591000	0.81541|0.81541	GCC|CCC		0.488	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825	
SULT1C4	27233	broad.mit.edu	37	2	108998302	108998302	+	Missense_Mutation	SNP	G	G	A	rs137946991		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:108998302G>A	ENST00000272452.2	+	2	580	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SULT1C4_ENST00000409309.3_Missense_Mutation_p.R85Q	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	85					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.R85Q(2)|p.R85L(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ACTCATCAACGATTTCCTTTC	0.398																																					p.R85Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G254A	2						.	G	GLN/ARG	0,4406		0,0,2203	135.0	116.0	123.0		254	3.4	0.0	2	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	missense	SULT1C4	NM_006588.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	85/303	108998302	2,13004	2203	4300	6503	108364734	SO:0001583	missense	27233	exon2			AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.254G>A	2.37:g.108998302G>A	ENSP00000272452:p.Arg85Gln		108364734	NM_006588	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000272452.2	37	CCDS2077.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706033	0.48412	0.0	2.33E-4	ENSG00000198075	ENST00000272452;ENST00000409309	D;D	0.83673	-1.75;-1.75	4.33	3.41	0.39046	Sulfotransferase domain (1);	0.335160	0.21862	N	0.068002	D	0.89413	0.6708	M	0.82323	2.585	0.09310	N	1	D;D;D	0.76494	0.992;0.999;0.998	P;D;P	0.77557	0.821;0.99;0.899	T	0.80153	-0.1501	10	0.72032	D	0.01	.	6.6557	0.22986	0.0909:0.0:0.7295:0.1796	.	85;85;85	Q08AS5;O75897;Q6PD90	.;ST1C4_HUMAN;.	Q	85	ENSP00000272452:R85Q;ENSP00000387225:R85Q	ENSP00000272452:R85Q	R	+	2	0	SULT1C4	108364734	0.954000	0.32549	0.012000	0.15200	0.203000	0.24098	4.499000	0.60380	1.110000	0.41699	0.609000	0.83330	CGA		0.398	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588	
LIMS1	3987	broad.mit.edu	37	2	109293104	109293104	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:109293104C>T	ENST00000393310.1	+	7	855	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	LIMS1_ENST00000338045.3_Missense_Mutation_p.R230C|LIMS1_ENST00000544547.1_Missense_Mutation_p.R242C|LIMS1_ENST00000542845.1_Missense_Mutation_p.R292C|LIMS1_ENST00000409441.1_Missense_Mutation_p.R267C|LIMS1_ENST00000332345.6_Missense_Mutation_p.R230C|LIMS1_ENST00000410093.1_Missense_Mutation_p.R234C|AC010095.5_ENST00000411710.1_RNA	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	230	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)	p.R230C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCTTGGACATCGCCATTATGA	0.358																																					p.R242C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C724T	2						.						36.0	29.0	31.0					2																	109293104		2107	3935	6042	108659536	SO:0001583	missense	3987	exon7				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983	ENST00000393310.1:c.688C>T	2.37:g.109293104C>T	ENSP00000376987:p.Arg230Cys		108659536	NM_001193483	B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	Missense_Mutation	SNP	ENST00000393310.1	37	CCDS2078.1	.	.	.	.	.	.	.	.	.	.	c	28.9	4.964422	0.92791	.	.	ENSG00000169756	ENST00000544547;ENST00000332345;ENST00000393310;ENST00000410093;ENST00000409441;ENST00000338045;ENST00000542845	D;D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	5.72	5.72	0.89469	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000001	D	0.92808	0.7713	M	0.64630	1.985	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.74023	0.982;0.953;0.954;0.954	D	0.92945	0.6375	10	0.87932	D	0	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	292;267;230;242	B7Z7R3;B7Z907;P48059;B7Z483	.;.;LIMS1_HUMAN;.	C	242;230;230;234;267;230;292	ENSP00000437912:R242C;ENSP00000331775:R230C;ENSP00000376987:R230C;ENSP00000386926:R234C;ENSP00000387264:R267C;ENSP00000337598:R230C;ENSP00000446121:R292C	ENSP00000331775:R230C	R	+	1	0	LIMS1	108659536	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.794000	0.85869	2.700000	0.92200	0.563000	0.77884	CGC		0.358	LIMS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253596.1	NM_004987	
RANBP2	5903	broad.mit.edu	37	2	109380602	109380602	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:109380602C>T	ENST00000283195.6	+	20	3733	c.3607C>T	c.(3607-3609)Cgt>Tgt	p.R1203C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1203	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1203C(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAATTGTTTCGTTTCGATGT	0.393																																					p.R1203C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3607T	2						.						76.0	77.0	77.0					2																	109380602		2203	4299	6502	108747034	SO:0001583	missense	5903	exon20			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3607C>T	2.37:g.109380602C>T	ENSP00000283195:p.Arg1203Cys		108747034	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263234	0.59431	.	.	ENSG00000153201	ENST00000283195	T	0.53423	0.62	5.57	5.57	0.84162	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.74658	0.3745	M	0.91038	3.17	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.80367	-0.1412	9	0.87932	D	0	-17.0176	14.4001	0.67037	0.1475:0.8525:0.0:0.0	.	1203	P49792	RBP2_HUMAN	C	1203	ENSP00000283195:R1203C	ENSP00000283195:R1203C	R	+	1	0	RANBP2	108747034	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	3.783000	0.55409	2.606000	0.88127	0.650000	0.86243	CGT		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
NPHP1	4867	broad.mit.edu	37	2	110927431	110927431	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:110927431G>A	ENST00000393272.3	-	5	571	c.474C>T	c.(472-474)atC>atT	p.I158I	NPHP1_ENST00000417665.1_Silent_p.I158I|NPHP1_ENST00000445609.2_Silent_p.I158I|NPHP1_ENST00000355301.4_Silent_p.I96I|NPHP1_ENST00000316534.4_Silent_p.I158I	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	158	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CTCCAACAGCGATGTATTCTT	0.428																																					p.I158I												.	.	0			c.C474T	2						.						183.0	161.0	168.0					2																	110927431		2203	4300	6503	110284720	SO:0001819	synonymous_variant	4867	exon5			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.474C>T	2.37:g.110927431G>A			110284720	NM_001128178	O14837	Silent	SNP	ENST00000393272.3	37	CCDS46385.1																																																																																				0.428	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	
ROCK2	9475	broad.mit.edu	37	2	11337745	11337745	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:11337745C>A	ENST00000315872.6	-	26	3634	c.3186G>T	c.(3184-3186)gaG>gaT	p.E1062D	ROCK2_ENST00000401753.1_Missense_Mutation_p.E819D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1062					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)	p.E1062D(2)		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)		GCTTTCTATTCTCCTTCTCTT	0.388																																					p.E1062D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3186T	2						.						223.0	198.0	206.0					2																	11337745		1875	4121	5996	11255196	SO:0001583	missense	9475	exon26			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.3186G>T	2.37:g.11337745C>A	ENSP00000317985:p.Glu1062Asp		11255196	NM_004850	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356503	0.61293	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.65549	-0.16;0.87	5.72	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	L	0.48362	1.52	0.46279	D	0.99896	P	0.45044	0.849	P	0.46659	0.523	T	0.49597	-0.8923	10	0.31617	T	0.26	.	9.5851	0.39512	0.0:0.6907:0.0:0.3093	.	1062	O75116	ROCK2_HUMAN	D	1062;819;420	ENSP00000317985:E1062D;ENSP00000385509:E819D	ENSP00000317985:E1062D	E	-	3	2	ROCK2	11255196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.161000	0.31773	0.342000	0.23796	0.563000	0.77884	GAG		0.388	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3		
BUB1	699	broad.mit.edu	37	2	111416286	111416286	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:111416286G>T	ENST00000302759.6	-	12	1428	c.1310C>A	c.(1309-1311)tCt>tAt	p.S437Y	BUB1_ENST00000535254.1_Missense_Mutation_p.S417Y|BUB1_ENST00000409311.1_Missense_Mutation_p.S437Y	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	437					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S437Y(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTGTGAAAAGAACTTGTGTT	0.423																																					p.S437Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1310A	2						.						212.0	182.0	192.0					2																	111416286		2203	4300	6503	111132759	SO:0001583	missense	699	exon12			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1310C>A	2.37:g.111416286G>T	ENSP00000302530:p.Ser437Tyr		111132759	NM_004336	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946241	0.73672	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.32023	2.2;1.47;2.46	6.16	5.27	0.74061	.	0.455201	0.25538	N	0.029986	T	0.34658	0.0905	L	0.44542	1.39	0.29354	N	0.865166	D;D;D	0.57571	0.969;0.98;0.958	P;P;P	0.47827	0.558;0.543;0.558	T	0.29274	-1.0017	10	0.62326	D	0.03	-12.5305	14.3043	0.66375	0.0:0.0:0.8457:0.1543	.	417;437;437	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	Y	417;437;437;437	ENSP00000441013:S417Y;ENSP00000386701:S437Y;ENSP00000302530:S437Y	ENSP00000302530:S437Y	S	-	2	0	BUB1	111132759	1.000000	0.71417	0.825000	0.32803	0.951000	0.60555	4.218000	0.58554	1.560000	0.49568	0.650000	0.86243	TCT		0.423	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336	
ZC3H6	376940	broad.mit.edu	37	2	113082544	113082544	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:113082544G>T	ENST00000409871.1	+	11	2257	c.1856G>T	c.(1855-1857)gGg>gTg	p.G619V	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G619V	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	619							metal ion binding (GO:0046872)	p.G619V(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CATGTAGATGGGATGTGGCAT	0.478																																					p.G619V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1856T	2						.						46.0	45.0	45.0					2																	113082544		2031	4191	6222	112799015	SO:0001583	missense	376940	exon11			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1856G>T	2.37:g.113082544G>T	ENSP00000386764:p.Gly619Val		112799015	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972795	0.53614	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15372	2.43;2.43	5.35	2.21	0.28008	.	0.310605	0.31113	N	0.008228	T	0.19087	0.0458	M	0.68952	2.095	0.53688	D	0.999978	P	0.49635	0.926	P	0.44597	0.454	T	0.01925	-1.1246	10	0.66056	D	0.02	-4.8038	5.9758	0.19377	0.1897:0.1535:0.6568:0.0	.	619	P61129	ZC3H6_HUMAN	V	619;619;596	ENSP00000386764:G619V;ENSP00000340298:G619V	ENSP00000340298:G619V	G	+	2	0	ZC3H6	112799015	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.214000	0.51161	0.656000	0.30886	0.591000	0.81541	GGG		0.478	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
ZC3H6	376940	broad.mit.edu	37	2	113089046	113089046	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:113089046G>A	ENST00000409871.1	+	12	2952	c.2551G>A	c.(2551-2553)Gat>Aat	p.D851N	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D851N|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	851							metal ion binding (GO:0046872)	p.D851N(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AATGCTCCAGGATCCAAGGTC	0.418																																					p.D851N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2551A	2						.						73.0	70.0	71.0					2																	113089046		1927	4137	6064	112805517	SO:0001583	missense	376940	exon12			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2551G>A	2.37:g.113089046G>A	ENSP00000386764:p.Asp851Asn		112805517	NM_198581	A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429616	0.83776	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.57907	0.37;0.37	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75147	-0.3420	10	0.72032	D	0.01	-19.6514	19.8384	0.96670	0.0:0.0:1.0:0.0	.	851	P61129	ZC3H6_HUMAN	N	851;851;828	ENSP00000386764:D851N;ENSP00000340298:D851N	ENSP00000340298:D851N	D	+	1	0	ZC3H6	112805517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.691000	0.91804	0.655000	0.94253	GAT		0.418	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581	
SNTG2	54221	broad.mit.edu	37	2	1161257	1161257	+	Silent	SNP	C	C	T	rs199527480		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:1161257C>T	ENST00000308624.5	+	7	564	c.435C>T	c.(433-435)ggC>ggT	p.G145G	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	145	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)	p.G145G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAAATGCTGGCGATGAAGTTA	0.443																																					p.G145G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C435T	2						.						95.0	89.0	91.0					2																	1161257		1879	4122	6001	1151257	SO:0001819	synonymous_variant	54221	exon7			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.435C>T	2.37:g.1161257C>T			1151257	NM_018968	Q05AH5	Silent	SNP	ENST00000308624.5	37	CCDS46220.1																																																																																				0.443	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
IL36RN	26525	broad.mit.edu	37	2	113820198	113820198	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:113820198G>A	ENST00000393200.2	+	5	573	c.412G>A	c.(412-414)Gag>Aag	p.E138K	IL36RN_ENST00000346807.3_Missense_Mutation_p.E138K	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	138					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)	p.E138K(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCAGCTTCCCGAGAATGGTGG	0.627																																					p.E138K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G412A	2						.						47.0	45.0	46.0					2																	113820198		2203	4300	6503	113536669	SO:0001583	missense	26525	exon5			AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.412G>A	2.37:g.113820198G>A	ENSP00000376896:p.Glu138Lys		113536669	NM_012275	A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	G	6.690	0.495913	0.12762	.	.	ENSG00000136695	ENST00000346807;ENST00000393200	T;T	0.16743	2.32;2.32	5.24	2.2	0.27929	.	0.896444	0.09917	N	0.738964	T	0.09512	0.0234	N	0.16790	0.44	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34502	-0.9826	10	0.31617	T	0.26	-5.9124	4.5789	0.12248	0.2053:0.1817:0.613:0.0	.	138	Q9UBH0	I36RA_HUMAN	K	138	ENSP00000259212:E138K;ENSP00000376896:E138K	ENSP00000259212:E138K	E	+	1	0	IL36RN	113536669	0.001000	0.12720	0.005000	0.12908	0.050000	0.14768	0.757000	0.26433	0.681000	0.31386	0.655000	0.94253	GAG		0.627	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170	
GREB1	9687	broad.mit.edu	37	2	11716576	11716576	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:11716576G>T	ENST00000381486.2	+	5	852	c.552G>T	c.(550-552)aaG>aaT	p.K184N	GREB1_ENST00000234142.5_Missense_Mutation_p.K184N|GREB1_ENST00000389825.3_Missense_Mutation_p.K74N|GREB1_ENST00000263834.5_Missense_Mutation_p.K184N|GREB1_ENST00000381483.2_Missense_Mutation_p.K184N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	184						integral component of membrane (GO:0016021)		p.K184N(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCAACCCAAGAAGCAGAAAC	0.443																																					p.K184N	Ovarian(39;850 945 2785 23371 33093)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G552T	2						.						135.0	134.0	135.0					2																	11716576		2203	4300	6503	11634027	SO:0001583	missense	9687	exon5				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.552G>T	2.37:g.11716576G>T	ENSP00000370896:p.Lys184Asn		11634027	NM_148903	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697343	0.68386	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;D;D;D;T	0.83755	2.79;-1.76;-1.76;-1.76;2.79	5.08	4.2	0.49525	.	0.000000	0.85682	D	0.000000	D	0.89301	0.6676	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.978;1.0	D;D;P;D	0.91635	0.948;0.999;0.8;0.999	D	0.89494	0.3759	10	0.72032	D	0.01	-30.8893	9.8407	0.40998	0.1558:0.0:0.8442:0.0	.	184;74;184;184	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	N	184;184;74;184;184	ENSP00000370896:K184N;ENSP00000263834:K184N;ENSP00000374475:K74N;ENSP00000370892:K184N;ENSP00000234142:K184N	ENSP00000234142:K184N	K	+	3	2	GREB1	11634027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.364000	0.66110	1.363000	0.46019	0.655000	0.94253	AAG		0.443	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
GREB1	9687	broad.mit.edu	37	2	11720921	11720921	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:11720921G>T	ENST00000381486.2	+	7	1164	c.864G>T	c.(862-864)aaG>aaT	p.K288N	GREB1_ENST00000234142.5_Missense_Mutation_p.K288N|GREB1_ENST00000389825.3_Missense_Mutation_p.K178N|GREB1_ENST00000263834.5_Missense_Mutation_p.K288N|GREB1_ENST00000381483.2_Missense_Mutation_p.K288N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	288						integral component of membrane (GO:0016021)		p.K288N(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AACTGGCAAAGAATAACCTGT	0.567																																					p.K288N	Ovarian(39;850 945 2785 23371 33093)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G864T	2						.						62.0	60.0	61.0					2																	11720921		2203	4300	6503	11638372	SO:0001583	missense	9687	exon7				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.864G>T	2.37:g.11720921G>T	ENSP00000370896:p.Lys288Asn		11638372	NM_148903	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851252	0.51270	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.53206	3.19;2.17;0.63;2.18;3.19	5.57	3.49	0.39957	.	0.382342	0.27147	N	0.020713	T	0.52322	0.1727	L	0.47716	1.5	0.45066	D	0.998081	D;D;D;P	0.76494	0.982;0.999;0.992;0.787	P;D;P;B	0.68353	0.714;0.957;0.813;0.426	T	0.54070	-0.8348	10	0.49607	T	0.09	-16.7395	2.8442	0.05538	0.1696:0.0:0.5445:0.2859	.	288;178;288;288	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	N	288;288;178;288;288	ENSP00000370896:K288N;ENSP00000263834:K288N;ENSP00000374475:K178N;ENSP00000370892:K288N;ENSP00000234142:K288N	ENSP00000234142:K288N	K	+	3	2	GREB1	11638372	1.000000	0.71417	0.337000	0.25536	0.139000	0.21198	3.216000	0.51176	1.333000	0.45449	0.561000	0.74099	AAG		0.567	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
GREB1	9687	broad.mit.edu	37	2	11732966	11732966	+	Silent	SNP	G	G	A	rs201256745	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:11732966G>A	ENST00000381486.2	+	11	1710	c.1410G>A	c.(1408-1410)tcG>tcA	p.S470S	GREB1_ENST00000234142.5_Silent_p.S470S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	470						integral component of membrane (GO:0016021)		p.S470S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCGCGAGTCGCACCTGACCG	0.711																																					p.S470S	Ovarian(39;850 945 2785 23371 33093)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1410A	2						.						8.0	9.0	9.0					2																	11732966		1975	4011	5986	11650417	SO:0001819	synonymous_variant	9687	exon11				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1410G>A	2.37:g.11732966G>A			11650417	NM_014668	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	CCDS42655.1																																																																																				0.711	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668	
DPP10	57628	broad.mit.edu	37	2	116447276	116447276	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:116447276C>T	ENST00000410059.1	+	6	935	c.455C>T	c.(454-456)tCg>tTg	p.S152L	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.S145L|DPP10_ENST00000393147.2_Missense_Mutation_p.S156L|DPP10_ENST00000409163.1_Missense_Mutation_p.S102L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	152						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.S145L(2)|p.S152L(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCATTATTCGTATACTGCT	0.264																																					p.S102L												.	.	4	Substitution - Missense(4)	large_intestine(2)|skin(2)	c.C305T	2						.						76.0	73.0	74.0					2																	116447276		2199	4295	6494	116163746	SO:0001583	missense	57628	exon7			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.455C>T	2.37:g.116447276C>T	ENSP00000386565:p.Ser152Leu		116163746	NM_001178036	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390657	0.82902	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;D;T;T	0.97138	1.3;1.3;-4.26;1.3;1.3	4.85	4.85	0.62838	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98830	0.9605	H	0.94925	3.6	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.999;0.996;0.996	D	0.99433	1.0936	10	0.87932	D	0	-12.3462	15.2739	0.73726	0.0:1.0:0.0:0.0	.	145;156;148;152	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	152;102;148;156;145;102	ENSP00000386565:S152L;ENSP00000387038:S102L;ENSP00000376854:S148L;ENSP00000376855:S156L;ENSP00000309066:S145L	ENSP00000309066:S145L	S	+	2	0	DPP10	116163746	0.999000	0.42202	0.972000	0.41901	0.930000	0.56654	4.608000	0.61141	2.515000	0.84797	0.650000	0.86243	TCG		0.264	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
MARCO	8685	broad.mit.edu	37	2	119699964	119699964	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:119699964G>A	ENST00000327097.4	+	1	223	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	30					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.E30K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGCCTTTCGAAATCAATGG	0.388																																					p.E30K	GBM(8;18 374 7467 11269 32796)											.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G88A	2						.						84.0	84.0	84.0					2																	119699964		2203	4300	6503	119416434	SO:0001583	missense	8685	exon1			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.88G>A	2.37:g.119699964G>A	ENSP00000318916:p.Glu30Lys		119416434	NM_006770	B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	3.840	-0.034051	0.07543	.	.	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.90620	-2.7	4.95	3.1	0.35709	.	0.425680	0.22328	N	0.061513	D	0.82683	0.5090	L	0.29908	0.895	0.25631	N	0.986305	P	0.49253	0.921	B	0.38880	0.284	T	0.73307	-0.4024	9	.	.	.	.	11.714	0.51641	0.0:0.3429:0.6571:0.0	.	30	Q9UEW3	MARCO_HUMAN	K	30	ENSP00000318916:E30K	.	E	+	1	0	MARCO	119416434	0.537000	0.26386	0.011000	0.14972	0.010000	0.07245	1.592000	0.36676	0.751000	0.32900	0.563000	0.77884	GAA		0.388	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	
C2orf76	130355	broad.mit.edu	37	2	120097455	120097455	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:120097455G>A	ENST00000409466.2	-	3	602	c.81C>T	c.(79-81)caC>caT	p.H27H	C2orf76_ENST00000409523.1_Silent_p.H27H|C2orf76_ENST00000409877.1_Silent_p.H27H|C2orf76_ENST00000334816.7_Silent_p.H27H|C2orf76_ENST00000498049.1_5'UTR			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	27								p.H27H(1)		large_intestine(1)|lung(3)|pancreas(1)	5						AATTCACTCCGTGATACACTA	0.383																																					p.H27H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C81T	2						.						114.0	107.0	109.0					2																	120097455		1876	4128	6004	119813925	SO:0001819	synonymous_variant	130355	exon3				CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.81C>T	2.37:g.120097455G>A			119813925	NM_001017927	B7ZLS8|Q4VC35	Silent	SNP	ENST00000409466.2	37	CCDS42739.1																																																																																				0.383	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330582.2	NM_001017927	
CLASP1	23332	broad.mit.edu	37	2	122120867	122120867	+	Nonsense_Mutation	SNP	G	G	A	rs145127425	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:122120867G>A	ENST00000263710.4	-	37	4476	c.4087C>T	c.(4087-4089)Cga>Tga	p.R1363*	CLASP1_ENST00000545861.1_Nonsense_Mutation_p.R1070*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.R1302*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.R1303*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.R1296*|CLASP1_ENST00000455322.2_Nonsense_Mutation_p.R1319*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.R1080*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1363	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.R1363*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCCAGTGCTCGAATTGAATGC	0.468																																					p.R1296X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3886T	2						.						71.0	65.0	67.0					2																	122120867		1960	4154	6114	121837337	SO:0001587	stop_gained	23332	exon35			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4087C>T	2.37:g.122120867G>A	ENSP00000263710:p.Arg1363*		121837337	NM_001142274	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Nonsense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	G	44	11.084874	0.99513	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	.	.	.	5.34	5.34	0.76211	.	0.057652	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1363	14.2001	0.65696	0.0:0.0:0.8145:0.1855	.	.	.	.	X	1363;1319;1303;1302;1080;1296;1070	.	ENSP00000263710:R1363X	R	-	1	2	CLASP1	121837337	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	4.912000	0.63335	2.659000	0.90383	0.563000	0.77884	CGA		0.468	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
CNTNAP5	129684	broad.mit.edu	37	2	125192088	125192088	+	Missense_Mutation	SNP	G	G	T	rs202245541		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:125192088G>T	ENST00000431078.1	+	5	921	c.557G>T	c.(556-558)cGa>cTa	p.R186L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	186	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R186L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTGATGGCCGAAGCTCACTT	0.438																																					p.R186L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G557T	2						.						129.0	119.0	122.0					2																	125192088		1944	4138	6082	124908558	SO:0001583	missense	129684	exon5			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.557G>T	2.37:g.125192088G>T	ENSP00000399013:p.Arg186Leu		124908558	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112323	0.56398	.	.	ENSG00000155052	ENST00000431078	T	0.79352	-1.26	5.48	4.6	0.57074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.190350	0.24039	N	0.042118	T	0.70684	0.3252	L	0.51422	1.61	0.58432	D	0.999991	B	0.27823	0.19	B	0.20384	0.029	T	0.66681	-0.5862	10	0.31617	T	0.26	.	13.3294	0.60477	0.0753:0.0:0.9247:0.0	.	186	Q8WYK1	CNTP5_HUMAN	L	186	ENSP00000399013:R186L	ENSP00000399013:R186L	R	+	2	0	CNTNAP5	124908558	1.000000	0.71417	0.736000	0.30914	0.868000	0.49771	7.844000	0.86867	1.325000	0.45301	-0.136000	0.14681	CGA		0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CNTNAP5	129684	broad.mit.edu	37	2	125232437	125232437	+	Missense_Mutation	SNP	G	G	A	rs369591290		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:125232437G>A	ENST00000431078.1	+	7	1404	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	347	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R347Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTAAGAGACGAAAGCATCAG	0.418																																					p.R347Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040A	2						.						70.0	64.0	66.0					2																	125232437		1882	4113	5995	124948907	SO:0001583	missense	129684	exon7			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1040G>A	2.37:g.125232437G>A	ENSP00000399013:p.Arg347Gln		124948907	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869400	0.32977	.	.	ENSG00000155052	ENST00000431078	D	0.88124	-2.34	5.67	4.79	0.61399	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.183257	0.25869	N	0.027768	D	0.86184	0.5872	N	0.16656	0.425	0.46499	D	0.999072	D	0.89917	1.0	D	0.80764	0.994	T	0.82196	-0.0577	10	0.12103	T	0.63	.	13.7755	0.63050	0.0737:0.0:0.9263:0.0	.	347	Q8WYK1	CNTP5_HUMAN	Q	347	ENSP00000399013:R347Q	ENSP00000399013:R347Q	R	+	2	0	CNTNAP5	124948907	1.000000	0.71417	0.190000	0.23270	0.982000	0.71751	5.193000	0.65120	1.518000	0.48934	0.591000	0.81541	CGA		0.418	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
CYP27C1	339761	broad.mit.edu	37	2	127961103	127961103	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:127961103C>T	ENST00000335247.7	-	2	153	c.23G>A	c.(22-24)aGa>aAa	p.R8K	CYP27C1_ENST00000409327.1_Missense_Mutation_p.R8K	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	8						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R8K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TTTCAGAATTCTTTGTCTCAA	0.408																																					p.R8K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G23A	2						.						137.0	139.0	139.0					2																	127961103		2203	4300	6503	127677573	SO:0001583	missense	339761	exon2			AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.23G>A	2.37:g.127961103C>T	ENSP00000334128:p.Arg8Lys		127677573	NM_001001665	Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053471	0.36181	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.40756	1.02;1.02	4.23	4.23	0.50019	.	0.294452	0.32161	N	0.006498	T	0.19127	0.0459	N	0.10809	0.05	0.24790	N	0.992762	B	0.19935	0.04	B	0.26969	0.075	T	0.27123	-1.0083	10	0.07644	T	0.81	-2.0762	5.6053	0.17377	0.0:0.7273:0.0:0.2727	.	8	Q4G0S4	C27C1_HUMAN	K	8	ENSP00000334128:R8K;ENSP00000387198:R8K	ENSP00000334128:R8K	R	-	2	0	CYP27C1	127677573	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.807000	0.47955	1.921000	0.55644	0.491000	0.48974	AGA		0.408	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1	NM_001001665	
PROC	5624	broad.mit.edu	37	2	128184701	128184701	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:128184701G>T	ENST00000234071.3	+	8	786	c.699G>T	c.(697-699)aaG>aaT	p.K233N	PROC_ENST00000422777.3_Missense_Mutation_p.K233N|PROC_ENST00000453608.2_Missense_Mutation_p.K288N|PROC_ENST00000409048.1_Missense_Mutation_p.K267N	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	233	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.K233N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGGACTCAAAGAAGAAGCTGG	0.597																																					p.K233N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G699T	2						.						114.0	115.0	115.0					2																	128184701		2203	4300	6503	127901171	SO:0001583	missense	5624	exon8			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.699G>T	2.37:g.128184701G>T	ENSP00000234071:p.Lys233Asn		127901171	NM_000312	B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	CCDS2145.1	.	.	.	.	.	.	.	.	.	.	G	8.421	0.846446	0.16963	.	.	ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.18	3.38	0.38709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43919	D	0.000504	T	0.81908	0.4922	N	0.02403	-0.565	0.21861	N	0.999506	P;P;B;P	0.40180	0.705;0.562;0.029;0.562	P;B;B;B	0.45099	0.469;0.221;0.049;0.297	T	0.74942	-0.3492	10	0.42905	T	0.14	.	8.6582	0.34077	0.2861:0.0:0.7139:0.0	.	288;289;267;233	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	N	233;192;288;267;233	ENSP00000234071:K233N;ENSP00000404030:K288N;ENSP00000386679:K267N;ENSP00000409543:K233N	ENSP00000234071:K233N	K	+	3	2	PROC	127901171	0.921000	0.31238	0.985000	0.45067	0.086000	0.17979	1.390000	0.34464	0.686000	0.31488	0.655000	0.94253	AAG		0.597	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312	
WDR33	55339	broad.mit.edu	37	2	128479502	128479502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:128479502C>A	ENST00000322313.4	-	15	1737	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	527					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.E527*(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTAATGTCTTCTTTTCTGTCA	0.363																																					p.E527X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1579T	2						.						187.0	164.0	172.0					2																	128479502		2203	4300	6503	128195972	SO:0001587	stop_gained	55339	exon15				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1579G>T	2.37:g.128479502C>A	ENSP00000325377:p.Glu527*		128195972	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Nonsense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	39	7.507939	0.98325	.	.	ENSG00000136709	ENST00000322313	.	.	.	5.71	5.71	0.89125	.	0.288940	0.38605	N	0.001622	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-15.8725	19.8636	0.96797	0.0:1.0:0.0:0.0	.	.	.	.	X	527	.	ENSP00000325377:E527X	E	-	1	0	WDR33	128195972	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.103000	0.64578	2.694000	0.91930	0.655000	0.94253	GAA		0.363	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
UGGT1	56886	broad.mit.edu	37	2	128945049	128945049	+	Silent	SNP	G	G	A	rs112061065	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:128945049G>A	ENST00000259253.6	+	40	4550	c.4503G>A	c.(4501-4503)ccG>ccA	p.P1501P	UGGT1_ENST00000375990.3_Silent_p.P1477P|UGGT1_ENST00000465836.1_3'UTR	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1501	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.P1501P(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAAAGAGCCGAAACTGGAAG	0.473													G|||	31	0.0061901	0.0219	0.0029	5008	,	,		19297	0.0		0.0	False		,,,				2504	0.0				p.P1501P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4503A	2						.	G		69,4337	63.5+/-100.7	0,69,2134	60.0	57.0	58.0		4503	0.5	1.0	2	dbSNP_132	58	0,8600		0,0,4300	no	coding-synonymous	UGGT1	NM_020120.3		0,69,6434	AA,AG,GG		0.0,1.566,0.5305		1501/1556	128945049	69,12937	2203	4300	6503	128661519	SO:0001819	synonymous_variant	56886	exon40			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4503G>A	2.37:g.128945049G>A			128661519	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1	13	0.005952380952380952	13	0.026422764227642278	0	0.0	0	0.0	0	0.0	G	10.11	1.261524	0.23051	0.01566	0.0	ENSG00000136731	ENST00000418197	.	.	.	5.65	0.457	0.16661	.	.	.	.	.	T	0.26195	0.0639	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15983	-1.0418	4	.	.	.	.	4.647	0.12577	0.1493:0.5389:0.183:0.1288	.	.	.	.	K	77	.	.	E	+	1	0	UGGT1	128661519	0.950000	0.32346	1.000000	0.80357	0.911000	0.54048	0.109000	0.15417	0.191000	0.20236	-0.769000	0.03391	GAA		0.473	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
UGGT1	56886	broad.mit.edu	37	2	128947311	128947311	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:128947311T>G	ENST00000259253.6	+	41	4710	c.4663T>G	c.(4663-4665)Tta>Gta	p.L1555V	UGGT1_ENST00000375990.3_Missense_Mutation_p.L1531V|UGGT1_ENST00000465836.1_3'UTR	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1555	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.L1555V(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACGTGAAGAATTATGATCTCT	0.363																																					p.L1555V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4663G	2						.						142.0	126.0	131.0					2																	128947311		2203	4300	6503	128663781	SO:0001583	missense	56886	exon41			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.4663T>G	2.37:g.128947311T>G	ENSP00000259253:p.Leu1555Val		128663781	NM_020120	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	CCDS2154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.54|18.54	3.645470|3.645470	0.67358|0.67358	.|.	.|.	ENSG00000136731|ENSG00000136731	ENST00000418197|ENST00000375990;ENST00000259253	.|T;T	.|0.08546	.|3.09;3.08	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|0.225689	.|0.31542	.|N	.|0.007465	T|T	0.13628|0.13628	0.0330|0.0330	N|N	0.14661|0.14661	0.345|0.345	0.39832|0.39832	D|D	0.972986|0.972986	.|D	.|0.63880	.|0.993	.|D	.|0.70016	.|0.967	T|T	0.34725|0.34725	-0.9817|-0.9817	5|9	.|.	.|.	.|.	.|.	13.5338|13.5338	0.61638|0.61638	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1555	.|Q9NYU2	.|UGGG1_HUMAN	S|V	130|1531;1555	.|ENSP00000365158:L1531V;ENSP00000259253:L1555V	.|.	I|L	+|+	2|1	0|2	UGGT1|UGGT1	128663781|128663781	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	2.843000|2.843000	0.48238|0.48238	2.227000|2.227000	0.72691|0.72691	0.460000|0.460000	0.39030|0.39030	ATT|TTA		0.363	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
POTEF	728378	broad.mit.edu	37	2	130833023	130833023	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:130833023C>A	ENST00000409914.2	-	17	2421	c.2022G>T	c.(2020-2022)aaG>aaT	p.K674N	POTEF_ENST00000357462.5_Missense_Mutation_p.K674N|POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000361163.4_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	674					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K674N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CCAAATATTTCTTTTCTCTTA	0.378																																					p.K674N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2022T	2						.						22.0	24.0	23.0					2																	130833023		2016	4187	6203	130549493	SO:0001583	missense	728378	exon17			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2022G>T	2.37:g.130833023C>A	ENSP00000386786:p.Lys674Asn		130549493	NM_001099771	A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	7.836	0.720824	0.15372	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.15017	2.46;2.46	0.993	0.993	0.19825	.	.	.	.	.	T	0.09468	0.0233	N	0.12569	0.235	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.29058	-1.0024	9	0.87932	D	0	.	7.8788	0.29610	0.0:1.0:0.0:0.0	.	674	A5A3E0	POTEF_HUMAN	N	674	ENSP00000350052:K674N;ENSP00000386786:K674N	ENSP00000350052:K674N	K	-	3	2	POTEF	130549493	0.000000	0.05858	0.023000	0.16930	0.007000	0.05969	0.280000	0.18790	0.847000	0.35167	0.184000	0.17185	AAG		0.378	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771	
AMER3	205147	broad.mit.edu	37	2	131520407	131520407	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:131520407C>T	ENST00000423981.1	+	2	872	c.762C>T	c.(760-762)ttC>ttT	p.F254F	AMER3_ENST00000321420.4_Silent_p.F254F	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	254					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.F254F(1)									GGGAGGTGTTCGCAGATGAGA	0.647																																					p.F254F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C762T	2						.						59.0	67.0	64.0					2																	131520407		2203	4300	6503	131236877	SO:0001819	synonymous_variant	205147	exon2			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.762C>T	2.37:g.131520407C>T			131236877	NM_001105195	B7ZLH6	Silent	SNP	ENST00000423981.1	37	CCDS2164.1																																																																																				0.647	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
ARHGEF4	50649	broad.mit.edu	37	2	131704116	131704116	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:131704116C>A	ENST00000326016.5	+	4	854	c.335C>A	c.(334-336)tCt>tAt	p.S112Y	ARHGEF4_ENST00000428230.2_Missense_Mutation_p.S112Y|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.S968Y|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.S112Y|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.S112Y|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.S112Y	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	112	ABR (APC-binding region) domain.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.S112Y(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCTCCAGAGTCTTTGAATCTC	0.517																																					p.S112Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C335A	2						.						128.0	128.0	128.0					2																	131704116		2203	4300	6503	131420586	SO:0001583	missense	50649	exon4			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.335C>A	2.37:g.131704116C>A	ENSP00000316845:p.Ser112Tyr		131420586	NM_015320	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	C	9.176	1.022431	0.19433	.	.	ENSG00000136002	ENST00000409359;ENST00000326016;ENST00000392953;ENST00000438985;ENST00000428230;ENST00000525839;ENST00000409303	T;T;T;T;T;T;T	0.72725	0.8;-0.41;-0.53;0.82;0.82;-0.53;-0.68	4.49	3.59	0.41128	.	.	.	.	.	T	0.73329	0.3573	L	0.27053	0.805	0.22842	N	0.998665	P;D;P;P	0.89917	0.61;1.0;0.891;0.61	B;D;B;B	0.70935	0.135;0.971;0.371;0.135	T	0.62849	-0.6767	9	0.87932	D	0	.	10.5426	0.45041	0.0:0.8039:0.1961:0.0	.	112;968;112;112	E9PEM0;E7EV07;Q9NR80-4;Q9NR80	.;.;.;ARHG4_HUMAN	Y	968;112;112;292;112;112;112	ENSP00000386794:S968Y;ENSP00000316845:S112Y;ENSP00000376680:S112Y;ENSP00000389661:S292Y;ENSP00000398455:S112Y;ENSP00000432267:S112Y;ENSP00000387285:S112Y	ENSP00000316845:S112Y	S	+	2	0	ARHGEF4	131420586	0.188000	0.23250	0.562000	0.28370	0.192000	0.23643	0.110000	0.15437	1.229000	0.43630	0.655000	0.94253	TCT		0.517	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4		
GPR39	2863	broad.mit.edu	37	2	133403131	133403131	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:133403131A>G	ENST00000329321.3	+	2	1783	c.1314A>G	c.(1312-1314)aaA>aaG	p.K438K	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	438					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)|metal ion binding (GO:0046872)	p.K438K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGGCGCGAAACCAGCCAATT	0.512																																					p.K438K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1314G	2						.						55.0	60.0	58.0					2																	133403131		2203	4300	6503	133119601	SO:0001819	synonymous_variant	2863	exon2			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1314A>G	2.37:g.133403131A>G			133119601	NM_001508	B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	CCDS2170.1																																																																																				0.512	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1		
NCKAP5	344148	broad.mit.edu	37	2	133540452	133540452	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:133540452G>T	ENST00000409261.1	-	14	4305	c.3932C>A	c.(3931-3933)tCt>tAt	p.S1311Y	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1311Y|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1311								p.S1311Y(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCGGGTAAGAGAATTGCCTCT	0.572																																					p.S1311Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3932A	2						.						72.0	70.0	71.0					2																	133540452		1928	4132	6060	133256922	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3932C>A	2.37:g.133540452G>T	ENSP00000387128:p.Ser1311Tyr		133256922	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935190	0.73442	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.25579	1.79;1.79	5.5	5.5	0.81552	.	0.000000	0.38548	U	0.001659	T	0.42517	0.1206	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21415	-1.0246	10	0.72032	D	0.01	.	17.7704	0.88490	0.0:0.0:1.0:0.0	.	1311	O14513	NCKP5_HUMAN	Y	1311	ENSP00000387128:S1311Y;ENSP00000380603:S1311Y	ENSP00000380603:S1311Y	S	-	2	0	NCKAP5	133256922	1.000000	0.71417	0.963000	0.40424	0.946000	0.59487	8.274000	0.89889	2.854000	0.98071	0.655000	0.94253	TCT		0.572	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133542123	133542123	+	Missense_Mutation	SNP	A	A	G	rs199960094	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:133542123A>G	ENST00000409261.1	-	14	2634	c.2261T>C	c.(2260-2262)gTg>gCg	p.V754A	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V754A|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	754								p.V754A(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCAGTGGACACCCTGGGAAC	0.423													a|||	2	0.000399361	0.0	0.0	5008	,	,		19403	0.0		0.002	False		,,,				2504	0.0				p.V754A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2261C	2						.						80.0	77.0	78.0					2																	133542123		1899	4131	6030	133258593	SO:0001583	missense	344148	exon14			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2261T>C	2.37:g.133542123A>G	ENSP00000387128:p.Val754Ala		133258593	NM_207363	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	a	1.784	-0.481222	0.04383	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.40476	1.03;1.03	5.2	-2.82	0.05787	.	1.491030	0.05087	N	0.484555	T	0.19805	0.0476	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20874	-1.0262	10	0.15066	T	0.55	.	8.3189	0.32117	0.5126:0.1068:0.3806:0.0	.	754	O14513	NCKP5_HUMAN	A	754	ENSP00000387128:V754A;ENSP00000380603:V754A	ENSP00000380603:V754A	V	-	2	0	NCKAP5	133258593	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.700000	0.25601	-0.413000	0.07507	-0.255000	0.11280	GTG		0.423	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
NCKAP5	344148	broad.mit.edu	37	2	133547620	133547620	+	Silent	SNP	G	G	A	rs369376292	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:133547620G>A	ENST00000409261.1	-	13	1441	c.1068C>T	c.(1066-1068)caC>caT	p.H356H	NCKAP5_ENST00000409213.1_Silent_p.H356H|NCKAP5_ENST00000405974.3_Silent_p.H356H|NCKAP5_ENST00000317721.6_Silent_p.H356H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	356	Ser-rich.							p.H195H(1)|p.H356H(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTTCCCATCGTGCCACGTGT	0.512													g|||	3	0.000599042	0.0023	0.0	5008	,	,		19929	0.0		0.0	False		,,,				2504	0.0				p.H356H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1068T	2						.	A	,	5,4095		0,5,2045	62.0	65.0	64.0		1068,1068	-5.1	0.9	2		64	0,8398		0,0,4199	no	coding-synonymous,coding-synonymous	NCKAP5	NM_207363.2,NM_207481.3	,	0,5,6244	AA,AG,GG		0.0,0.122,0.04	,	356/1910,356/591	133547620	5,12493	2050	4199	6249	133264090	SO:0001819	synonymous_variant	344148	exon13			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1068C>T	2.37:g.133547620G>A			133264090	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	CCDS46418.1																																																																																				0.512	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
MAP3K19	80122	broad.mit.edu	37	2	135743812	135743812	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:135743812G>T	ENST00000375845.3	-	7	2660	c.2630C>A	c.(2629-2631)tCt>tAt	p.S877Y	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S764Y|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.S894Y	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	877							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S229Y(1)|p.S877Y(1)									TTTACTAAGAGATGCTGTATT	0.383																																					p.S877Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2630A	2						.						102.0	103.0	103.0					2																	135743812		2203	4300	6503	135460282	SO:0001583	missense	80122	exon7			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2630C>A	2.37:g.135743812G>T	ENSP00000365005:p.Ser877Tyr		135460282	NM_025052	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	6.897	0.535016	0.13188	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72942	-0.58;-0.57;1.69;-0.7	4.86	3.98	0.46160	.	0.296411	0.24585	N	0.037262	T	0.71592	0.3358	L	0.42245	1.32	0.23581	N	0.997369	D;D;D	0.64830	0.986;0.994;0.976	P;P;P	0.58873	0.814;0.847;0.656	T	0.61589	-0.7032	10	0.51188	T	0.08	.	6.7202	0.23327	0.0938:0.1813:0.7248:0.0	.	764;894;877	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Y	877;764;894;267	ENSP00000365005:S877Y;ENSP00000351140:S764Y;ENSP00000376647:S894Y;ENSP00000392827:S267Y	ENSP00000351140:S764Y	S	-	2	0	YSK4	135460282	0.927000	0.31430	0.068000	0.19968	0.006000	0.05464	4.161000	0.58170	1.252000	0.44001	0.455000	0.32223	TCT		0.383	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
UBXN4	23190	broad.mit.edu	37	2	136511744	136511744	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:136511744T>C	ENST00000272638.9	+	4	541	c.230T>C	c.(229-231)gTt>gCt	p.V77A	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	77					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V77A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GTAGTGTGTGTTCCATCCAGT	0.368																																					p.V77A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T230C	2						.						185.0	171.0	176.0					2																	136511744		1864	4121	5985	136228214	SO:0001583	missense	23190	exon4			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.230T>C	2.37:g.136511744T>C	ENSP00000272638:p.Val77Ala		136228214	NM_014607	A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690362	0.68271	.	.	ENSG00000144224	ENST00000272638;ENST00000430594;ENST00000415164	T;T	0.43688	0.94;0.99	5.58	5.58	0.84498	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.83118	2.625	0.58432	D	0.99999	B	0.15930	0.015	B	0.23150	0.044	T	0.49560	-0.8927	10	0.42905	T	0.14	.	14.741	0.69455	0.0:0.0:0.0:1.0	.	77	Q92575	UBXN4_HUMAN	A	77;77;113	ENSP00000272638:V77A;ENSP00000401748:V113A	ENSP00000272638:V77A	V	+	2	0	UBXN4	136228214	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.950000	0.75977	2.114000	0.64651	0.377000	0.23210	GTT		0.368	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607	
LCT	3938	broad.mit.edu	37	2	136575460	136575460	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:136575460G>A	ENST00000264162.2	-	6	1168	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	386	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.F386F(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CACCCCAGAGGAAGCCTTCAG	0.597																																					p.F386F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1158T	2						.						70.0	78.0	76.0					2																	136575460		2203	4300	6503	136291930	SO:0001819	synonymous_variant	3938	exon6			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1158C>T	2.37:g.136575460G>A			136291930	NM_002299	Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				0.597	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LCT	3938	broad.mit.edu	37	2	136590695	136590695	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:136590695A>C	ENST00000264162.2	-	2	716	c.706T>G	c.(706-708)Tct>Gct	p.S236A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	236	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.S236A(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCAAGCGCAGATATGGGTGGT	0.458																																					p.S236A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T706G	2						.						152.0	166.0	161.0					2																	136590695		2203	4300	6503	136307165	SO:0001583	missense	3938	exon2			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.706T>G	2.37:g.136590695A>C	ENSP00000264162:p.Ser236Ala		136307165	NM_002299	Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	5.137	0.210829	0.09757	.	.	ENSG00000115850	ENST00000264162	T	0.29655	1.56	5.57	-5.54	0.02544	Glycoside hydrolase, superfamily (1);	0.931447	0.09184	N	0.837066	T	0.13157	0.0319	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.38178	-0.9673	10	0.07644	T	0.81	-7.7429	2.4786	0.04581	0.2064:0.3722:0.0761:0.3454	.	236	P09848	LPH_HUMAN	A	236	ENSP00000264162:S236A	ENSP00000264162:S236A	S	-	1	0	LCT	136307165	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	-0.072000	0.11486	-0.438000	0.07232	-0.666000	0.03841	TCT		0.458	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
THSD7B	80731	broad.mit.edu	37	2	137988705	137988705	+	Silent	SNP	C	C	T	rs143921844	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:137988705C>T	ENST00000409968.1	+	8	1993	c.1815C>T	c.(1813-1815)agC>agT	p.S605S	THSD7B_ENST00000272643.3_Silent_p.S605S|THSD7B_ENST00000413152.2_Silent_p.S574S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	605	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGTGCTGAGCGAGTGGACGG	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		18151	0.0		0.001	False		,,,				2504	0.001				p.S574S												.	.	0			c.C1722T	2						.						88.0	88.0	88.0					2																	137988705		1998	4160	6158	137705175	SO:0001819	synonymous_variant	80731	exon7					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1815C>T	2.37:g.137988705C>T			137705175	NM_001080427		Silent	SNP	ENST00000409968.1	37																																																																																					0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
LRP1B	53353	broad.mit.edu	37	2	141108461	141108461	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:141108461C>A	ENST00000389484.3	-	77	12768	c.11797G>T	c.(11797-11799)Gat>Tat	p.D3933Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3933					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3933Y(1)		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)		ATAATCATATCTCTTTGATAA	0.348										TSP Lung(27;0.18)																											p.D3933Y	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11797T	2						.						97.0	100.0	99.0					2																	141108461		2203	4300	6503	140824931	SO:0001583	missense	53353	exon77			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.11797G>T	2.37:g.141108461C>A	ENSP00000374135:p.Asp3933Tyr		140824931	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.110808|3.110808	0.56398|0.56398	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.91945|.	-2.94|.	5.48|5.48	4.36|4.36	0.52297|0.52297	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.449726|.	0.23795|.	N|.	0.044496|.	T|T	0.51584|0.51584	0.1683|0.1683	M|M	0.62723|0.62723	1.935|1.935	0.29053|0.29053	N|N	0.884392|0.884392	P|.	0.39624|.	0.681|.	B|.	0.36885|.	0.235|.	T|T	0.49872|0.49872	-0.8893|-0.8893	10|5	0.66056|.	D|.	0.02|.	.|.	8.7523|8.7523	0.34622|0.34622	0.0:0.7227:0.0:0.2773|0.0:0.7227:0.0:0.2773	.|.	3933|.	Q9NZR2|.	LRP1B_HUMAN|.	Y|D	3933;3871|164	ENSP00000374135:D3933Y|.	ENSP00000374135:D3933Y|.	D|E	-|-	1|3	0|2	LRP1B|LRP1B	140824931|140824931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.503000|2.503000	0.45407|0.45407	1.103000|1.103000	0.41568|0.41568	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141128384	141128384	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:141128384C>A	ENST00000389484.3	-	71	11874	c.10903G>T	c.(10903-10905)Gat>Tat	p.D3635Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3635	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D3635Y(1)		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)		CGAAACTGATCTTCCTTACAT	0.383										TSP Lung(27;0.18)																											p.D3635Y	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G10903T	2						.						167.0	153.0	157.0					2																	141128384		2203	4300	6503	140844854	SO:0001583	missense	53353	exon71			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.10903G>T	2.37:g.141128384C>A	ENSP00000374135:p.Asp3635Tyr		140844854	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277589	0.40294	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.41400	1.0	5.12	3.25	0.37280	.	0.068847	0.56097	U	0.000032	T	0.42154	0.1190	L	0.45352	1.415	0.50467	D	0.999874	B	0.26845	0.161	B	0.41374	0.355	T	0.35126	-0.9801	10	0.38643	T	0.18	.	10.3878	0.44152	0.0:0.7914:0.1348:0.0738	.	3635	Q9NZR2	LRP1B_HUMAN	Y	3635;3573	ENSP00000374135:D3635Y	ENSP00000374135:D3635Y	D	-	1	0	LRP1B	140844854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.725000	0.54970	1.165000	0.42670	0.491000	0.48974	GAT		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141214165	141214165	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:141214165T>C	ENST00000389484.3	-	62	10793	c.9822A>G	c.(9820-9822)aaA>aaG	p.K3274K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3274	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.K3274K(1)		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)		TGCAGAGATGTTTGGAGACTA	0.373										TSP Lung(27;0.18)																											p.K3274K	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A9822G	2						.						82.0	80.0	80.0					2																	141214165		2203	4300	6503	140930635	SO:0001819	synonymous_variant	53353	exon62			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.9822A>G	2.37:g.141214165T>C			140930635	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141643872	141643872	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:141643872G>A	ENST00000389484.3	-	24	4770	c.3799C>T	c.(3799-3801)Cgt>Tgt	p.R1267C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1267					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R1267C(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCTCATGACGAATAGAAAAG	0.318										TSP Lung(27;0.18)																											p.R1267C	Colon(99;50 2074 2507 20106)											.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C3799T	2						.						67.0	67.0	67.0					2																	141643872		2203	4300	6503	141360342	SO:0001583	missense	53353	exon24			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.3799C>T	2.37:g.141643872G>A	ENSP00000374135:p.Arg1267Cys		141360342	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889973	0.91889	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.91740	-2.9;-2.9	5.78	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.96661	0.8910	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.97075	0.9780	10	0.72032	D	0.01	.	16.2286	0.82318	0.0:0.0:0.8666:0.1334	.	450;1267	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	C	1267;1205;412	ENSP00000374135:R1267C;ENSP00000413239:R412C	ENSP00000374135:R1267C	R	-	1	0	LRP1B	141360342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.742000	0.85008	2.730000	0.93505	0.650000	0.86243	CGT		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141665599	141665599	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:141665599C>T	ENST00000389484.3	-	22	4338	c.3367G>A	c.(3367-3369)Gaa>Aaa	p.E1123K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1123	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E1123K(1)		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)		GACTGATCTTCGCAATCAATA	0.423										TSP Lung(27;0.18)																											p.E1123K	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3367A	2						.						200.0	159.0	173.0					2																	141665599		2203	4300	6503	141382069	SO:0001583	missense	53353	exon22			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.3367G>A	2.37:g.141665599C>T	ENSP00000374135:p.Glu1123Lys		141382069	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903370	0.92035	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95377	-3.69;-3.69	5.58	5.58	0.84498	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.139213	0.45867	D	0.000323	D	0.95506	0.8540	L	0.31664	0.95	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.83275	0.916;0.996	D	0.91931	0.5555	10	0.07175	T	0.84	.	19.5654	0.95390	0.0:1.0:0.0:0.0	.	306;1123	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1123;1061;268	ENSP00000374135:E1123K;ENSP00000413239:E268K	ENSP00000374135:E1123K	E	-	1	0	LRP1B	141382069	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.729000	0.84864	2.641000	0.89580	0.585000	0.79938	GAA		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
LRP1B	53353	broad.mit.edu	37	2	141751586	141751586	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:141751586G>A	ENST00000389484.3	-	16	3593	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	874	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S874S(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCCTCATCGCTTCCGTCTA	0.428										TSP Lung(27;0.18)																											p.S874S	Colon(99;50 2074 2507 20106)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2622T	2						.						127.0	121.0	123.0					2																	141751586		2203	4300	6503	141468056	SO:0001819	synonymous_variant	53353	exon16			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.2622C>T	2.37:g.141751586G>A			141468056	NM_018557	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1																																																																																				0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
KYNU	8942	broad.mit.edu	37	2	143743579	143743579	+	Silent	SNP	G	G	A	rs140758594		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:143743579G>A	ENST00000264170.4	+	10	1149	c.891G>A	c.(889-891)acG>acA	p.T297T	KYNU_ENST00000409512.1_Silent_p.T297T|KYNU_ENST00000375773.2_Silent_p.T297T	NM_003937.2	NP_003928.1			kynureninase									p.T297T(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		ATGCCCATACGATTAAACCTG	0.328																																					p.T297T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G891A	2						.	G	,,	1,4405	4.2+/-10.8	0,1,2202	75.0	75.0	75.0		891,891,891	-7.6	0.0	2	dbSNP_134	75	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	KYNU	NM_001032998.1,NM_001199241.1,NM_003937.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	297/308,297/466,297/466	143743579	1,13005	2203	4300	6503	143460049	SO:0001819	synonymous_variant	8942	exon10			U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.891G>A	2.37:g.143743579G>A			143460049	NM_001032998		Silent	SNP	ENST00000264170.4	37	CCDS2183.1																																																																																				0.328	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	
GTDC1	79712	broad.mit.edu	37	2	144710364	144710364	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:144710364A>C	ENST00000392869.2	-	9	1329	c.1177T>G	c.(1177-1179)Ttg>Gtg	p.L393V	GTDC1_ENST00000409214.1_Missense_Mutation_p.L393V|GTDC1_ENST00000409298.1_Missense_Mutation_p.L275V|GTDC1_ENST00000463875.2_Missense_Mutation_p.L264V|GTDC1_ENST00000542155.1_Missense_Mutation_p.L393V|GTDC1_ENST00000344850.4_Missense_Mutation_p.L393V|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000392867.3_Missense_Mutation_p.L308V|GTDC1_ENST00000241391.5_Missense_Mutation_p.L308V	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	393					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.L393V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GGATAAACCAAATCTTTAGGA	0.303																																					p.L393V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1177G	2						.						81.0	92.0	88.0					2																	144710364		2202	4299	6501	144426834	SO:0001583	missense	79712	exon10			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1177T>G	2.37:g.144710364A>C	ENSP00000376608:p.Leu393Val		144426834	NM_001164629	A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.059573	0.36373	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000409298;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T;T	0.78924	-1.0;-1.0;-0.51;-1.22;-1.0;-0.51;-1.0;-1.0	5.18	2.77	0.32553	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.87597	0.6217	M	0.86805	2.84	0.48040	D	0.999574	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.87578	0.996;0.998;0.998;0.998	D	0.86739	0.1953	10	0.87932	D	0	-18.4528	9.5836	0.39504	0.856:0.0:0.144:0.0	.	393;308;275;393	G1UFN1;Q4AE62-2;B8ZZ45;Q4AE62	.;.;.;GTDC1_HUMAN	V	393;393;308;275;393;308;393;264	ENSP00000376608:L393V;ENSP00000386581:L393V;ENSP00000376606:L308V;ENSP00000386691:L275V;ENSP00000438323:L393V;ENSP00000241391:L308V;ENSP00000339750:L393V;ENSP00000437964:L264V	ENSP00000241391:L308V	L	-	1	2	GTDC1	144426834	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	2.947000	0.49058	0.371000	0.24564	-0.297000	0.09499	TTG		0.303	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659	
ZEB2	9839	broad.mit.edu	37	2	145156392	145156392	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:145156392G>T	ENST00000558170.2	-	8	3546	c.2362C>A	c.(2362-2364)Ctt>Att	p.L788I	ZEB2_ENST00000539609.3_Missense_Mutation_p.L764I|ZEB2_ENST00000409487.3_Missense_Mutation_p.L788I|ZEB2_ENST00000303660.4_Missense_Mutation_p.L788I	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	788					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.L788I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGGAGGAAAGATTTAAGGGA	0.423																																					p.L764I	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2290A	2						.						138.0	145.0	143.0					2																	145156392		2203	4300	6503	144872862	SO:0001583	missense	9839	exon7			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2362C>A	2.37:g.145156392G>T	ENSP00000454157:p.Leu788Ile		144872862	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984132	0.53827	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.18810	2.2;2.19;2.19	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.993;0.993;0.993	D;D;D;D	0.85130	0.997;0.967;0.967;0.967	T	0.50268	-0.8848	10	0.72032	D	0.01	-6.8749	19.5998	0.95557	0.0:0.0:1.0:0.0	.	764;653;787;788	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	I	764;788;788	ENSP00000443792:L764I;ENSP00000302501:L788I;ENSP00000386854:L788I	ENSP00000302501:L788I	L	-	1	0	ZEB2	144872862	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.930000	0.87610	2.717000	0.92951	0.655000	0.94253	CTT		0.423	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ZEB2	9839	broad.mit.edu	37	2	145157254	145157254	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:145157254T>C	ENST00000558170.2	-	8	2684	c.1500A>G	c.(1498-1500)gaA>gaG	p.E500E	ZEB2_ENST00000539609.3_Silent_p.E476E|ZEB2_ENST00000409487.3_Silent_p.E500E|ZEB2_ENST00000303660.4_Silent_p.E500E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	500					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.E500E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TAACTCCTTGTTCCTCAGGTT	0.408																																					p.E476E	Melanoma(33;1235 1264 5755 16332)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1428G	2						.						76.0	80.0	78.0					2																	145157254		2203	4300	6503	144873724	SO:0001819	synonymous_variant	9839	exon7			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1500A>G	2.37:g.145157254T>C			144873724	NM_001171653	A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	CCDS2186.1																																																																																				0.408	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
ORC4	5000	broad.mit.edu	37	2	148693243	148693243	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:148693243C>A	ENST00000392857.5	-	14	1254	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	ORC4_ENST00000264169.2_Nonsense_Mutation_p.E383*|ORC4_ENST00000535373.1_Nonsense_Mutation_p.E383*|ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000540442.1_Nonsense_Mutation_p.E309*|ORC4_ENST00000542387.1_Nonsense_Mutation_p.E166*|ORC4_ENST00000536575.1_Nonsense_Mutation_p.E299*|ORC4_ENST00000392858.1_Nonsense_Mutation_p.E383*	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	383					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.E383*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TTTATTAATTCTAATTGCTGC	0.388																																					p.E383X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1147T	2						.						92.0	96.0	95.0					2																	148693243		2203	4300	6503	148409713	SO:0001587	stop_gained	5000	exon14			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.1147G>T	2.37:g.148693243C>A	ENSP00000376597:p.Glu383*		148409713	NM_181742	B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Nonsense_Mutation	SNP	ENST00000392857.5	37	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	C	38	6.758868	0.97817	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	.	.	.	5.6	5.6	0.85130	.	0.049929	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-20.6247	19.6177	0.95640	0.0:1.0:0.0:0.0	.	.	.	.	X	383;383;383;309;299;383;166	.	ENSP00000264169:E383X	E	-	1	0	ORC4	148409713	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.314000	0.78988	2.632000	0.89209	0.650000	0.86243	GAA		0.388	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742	
MBD5	55777	broad.mit.edu	37	2	149247325	149247325	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:149247325C>T	ENST00000407073.1	+	12	4422	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V	MBD5_ENST00000404807.1_Missense_Mutation_p.A1375V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1142					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A1142V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCTGTCAGTGCGGTCATTCAT	0.502																																					p.A1142V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3425T	2						.						89.0	89.0	89.0					2																	149247325		2203	4300	6503	148963795	SO:0001583	missense	55777	exon12			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3425C>T	2.37:g.149247325C>T	ENSP00000386049:p.Ala1142Val		148963795	NM_018328	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656975	0.67586	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.51071	0.72;0.8	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.57036	0.2026	N	0.24115	0.695	0.42409	D	0.992599	D;D	0.89917	1.0;0.999	D;D	0.66716	0.946;0.922	T	0.60885	-0.7174	10	0.87932	D	0	-4.5322	19.6982	0.96039	0.0:1.0:0.0:0.0	.	1375;1142	E9PHH0;Q9P267	.;MBD5_HUMAN	V	1142;1375	ENSP00000386049:A1142V;ENSP00000384672:A1375V	ENSP00000384672:A1375V	A	+	2	0	MBD5	148963795	1.000000	0.71417	0.982000	0.44146	0.999000	0.98932	5.016000	0.64041	2.894000	0.99253	0.655000	0.94253	GCG		0.502	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2		
EPC2	26122	broad.mit.edu	37	2	149528929	149528929	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:149528929T>G	ENST00000258484.6	+	10	1727	c.1693T>G	c.(1693-1695)Ttg>Gtg	p.L565V		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	565					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.L565V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TGTAGCTTTATTGAACACCAG	0.353																																					p.L565V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1693G	2						.						125.0	118.0	120.0					2																	149528929		1864	4096	5960	149245399	SO:0001583	missense	26122	exon10			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1693T>G	2.37:g.149528929T>G	ENSP00000258484:p.Leu565Val		149245399	NM_015630	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	T	7.538	0.660002	0.14645	.	.	ENSG00000135999	ENST00000258484	T	0.15372	2.43	5.34	1.64	0.23874	.	0.183730	0.39146	N	0.001442	T	0.19805	0.0476	N	0.22421	0.69	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.02173	-1.1201	10	0.23891	T	0.37	-1.3239	9.2107	0.37318	0.0:0.2087:0.0:0.7913	.	565	Q52LR7	EPC2_HUMAN	V	565	ENSP00000258484:L565V	ENSP00000258484:L565V	L	+	1	2	EPC2	149245399	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.585000	0.46111	0.098000	0.17522	-0.376000	0.06991	TTG		0.353	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630	
MMADHC	27249	broad.mit.edu	37	2	150436157	150436157	+	Nonsense_Mutation	SNP	G	G	A	rs118204047		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:150436157G>A	ENST00000428879.1	-	3	664	c.160C>T	c.(160-162)Cga>Tga	p.R54*	MMADHC_ENST00000303319.5_Nonsense_Mutation_p.R54*|MMADHC_ENST00000422782.2_Nonsense_Mutation_p.R54*			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	54					cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)		p.R54*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						CACACTGTTCGAGAGCCTGAA	0.398																																					p.R54X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C160T	2	GRCh37	CM081191	MMADHC	M	rs118204047	.						47.0	47.0	47.0					2																	150436157		2203	4300	6503	150144403	SO:0001587	stop_gained	27249	exon4			BC023995	CCDS2189.1	2q23	2011-05-12	2009-01-08	2009-01-08	ENSG00000168288	ENSG00000168288			25221	protein-coding gene	gene with protein product		611935	"""chromosome 2 open reading frame 25"""	C2orf25		18385497	Standard	NM_015702		Approved	CL25022, cblD	uc002txc.3	Q9H3L0	OTTHUMG00000155558	ENST00000428879.1:c.160C>T	2.37:g.150436157G>A	ENSP00000389060:p.Arg54*		150144403	NM_015702	B2R895|D3DP91|O95891	Nonsense_Mutation	SNP	ENST00000428879.1	37	CCDS2189.1	.	.	.	.	.	.	.	.	.	.	G	36	5.629988	0.96671	.	.	ENSG00000168288	ENST00000303319;ENST00000428879;ENST00000422782	.	.	.	4.79	2.6	0.31112	.	0.111640	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3448	10.8035	0.46502	0.0:0.0:0.4152:0.5848	.	.	.	.	X	54	.	ENSP00000301920:R54X	R	-	1	2	MMADHC	150144403	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.408000	0.44574	1.114000	0.41781	-0.535000	0.04281	CGA		0.398	MMADHC-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332312.1	NM_015702	
RIF1	55183	broad.mit.edu	37	2	152293392	152293392	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:152293392C>T	ENST00000243326.5	+	11	1730	c.1247C>T	c.(1246-1248)tCg>tTg	p.S416L	RIF1_ENST00000444746.2_Missense_Mutation_p.S416L|RIF1_ENST00000430328.2_Missense_Mutation_p.S416L|RIF1_ENST00000453091.2_Missense_Mutation_p.S416L|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.S416L			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)	p.S416L(1)		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)		AACCTGAGTTCGAATTTAGGT	0.423																																					p.S416L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1247T	2						.						61.0	58.0	59.0					2																	152293392		2203	4300	6503	152001638	SO:0001583	missense	55183	exon12			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.1247C>T	2.37:g.152293392C>T	ENSP00000243326:p.Ser416Leu		152001638	NM_001177664	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257352	0.80246	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	5.77	4.71	0.59529	.	0.465928	0.23889	N	0.043577	T	0.09774	0.0240	L	0.35723	1.085	0.34539	D	0.710039	B;B	0.32893	0.311;0.389	B;B	0.24974	0.027;0.057	T	0.14504	-1.0470	10	0.48119	T	0.1	-3.6119	15.401	0.74841	0.0:0.921:0.0:0.079	.	416;416	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	416	ENSP00000390181:S416L;ENSP00000414615:S416L;ENSP00000415691:S416L;ENSP00000243326:S416L;ENSP00000416123:S416L	ENSP00000243326:S416L	S	+	2	0	RIF1	152001638	0.806000	0.28996	0.315000	0.25238	0.992000	0.81027	1.880000	0.39628	2.733000	0.93635	0.557000	0.71058	TCG		0.423	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
RIF1	55183	broad.mit.edu	37	2	152314404	152314404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:152314404C>T	ENST00000243326.5	+	23	3265	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	RIF1_ENST00000444746.2_Nonsense_Mutation_p.R928*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.R928*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.R928*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.R928*			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)	p.R928*(1)		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)		TAAACAGATTCGAAAACAGAG	0.363																																					p.R928X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2782T	2						.						90.0	90.0	90.0					2																	152314404		2203	4300	6503	152022650	SO:0001587	stop_gained	55183	exon24			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.2782C>T	2.37:g.152314404C>T	ENSP00000243326:p.Arg928*		152022650	NM_001177664	A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	41	8.845558	0.98976	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	6.03	1.96	0.26148	.	0.226230	0.46442	D	0.000296	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7722	16.1303	0.81428	0.5026:0.4974:0.0:0.0	.	.	.	.	X	928	.	ENSP00000243326:R928X	R	+	1	2	RIF1	152022650	0.834000	0.29399	0.996000	0.52242	0.998000	0.95712	0.641000	0.24720	0.056000	0.16144	0.655000	0.94253	CGA		0.363	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
RIF1	55183	broad.mit.edu	37	2	152322277	152322277	+	Silent	SNP	C	C	T	rs61748235		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:152322277C>T	ENST00000243326.5	+	29	6726	c.6243C>T	c.(6241-6243)gaC>gaT	p.D2081D	RIF1_ENST00000444746.2_Silent_p.D2081D|RIF1_ENST00000430328.2_Silent_p.D2081D|RIF1_ENST00000453091.2_Silent_p.D2081D|RIF1_ENST00000428287.2_Silent_p.D2081D			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)	p.D2081D(2)		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)		GAATCATTGACGCTAATAAAA	0.343																																					p.D2081D												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C6243T	2						.	C	,,,	0,4406		0,0,2203	77.0	75.0	76.0		6243,6243,6243,6243	-0.3	0.0	2	dbSNP_129	76	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RIF1	NM_001177663.1,NM_001177664.1,NM_001177665.1,NM_018151.4	,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,	2081/2447,2081/2447,2081/2447,2081/2473	152322277	3,13003	2203	4300	6503	152030523	SO:0001819	synonymous_variant	55183	exon30			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.6243C>T	2.37:g.152322277C>T			152030523	NM_001177664	A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	CCDS2194.1																																																																																				0.343	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3		
NEB	4703	broad.mit.edu	37	2	152383998	152383998	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:152383998G>A	ENST00000172853.10	-	119	16881	c.16734C>T	c.(16732-16734)agC>agT	p.S5578S	NEB_ENST00000397345.3_Silent_p.S7279S|NEB_ENST00000427231.2_Silent_p.S7279S|NEB_ENST00000409198.1_Silent_p.S5578S|NEB_ENST00000604864.1_Silent_p.S7279S|NEB_ENST00000603639.1_Silent_p.S7279S			P20929	NEBU_HUMAN	nebulin	5578					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)		GTCTTACATCGCTTTGCTGCA	0.448																																					p.S7279S												.	.	0			c.C21837T	2						.						79.0	78.0	78.0					2																	152383998		1939	4149	6088	152092244	SO:0001819	synonymous_variant	4703	exon147			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.16734C>T	2.37:g.152383998G>A			152092244	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
NEB	4703	broad.mit.edu	37	2	152534213	152534213	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:152534213C>T	ENST00000172853.10	-	34	3787	c.3640G>A	c.(3640-3642)Gaa>Aaa	p.E1214K	NEB_ENST00000397345.3_Missense_Mutation_p.E1214K|NEB_ENST00000427231.2_Missense_Mutation_p.E1214K|NEB_ENST00000409198.1_Missense_Mutation_p.E1214K|NEB_ENST00000604864.1_Missense_Mutation_p.E1214K|NEB_ENST00000603639.1_Missense_Mutation_p.E1214K			P20929	NEBU_HUMAN	nebulin	1214					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)	p.E1214K(3)		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)		TTAACTTTTTCGACGTCGAGA	0.453																																					p.E1214K												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3640A	2						.						223.0	211.0	215.0					2																	152534213		1898	4119	6017	152242459	SO:0001583	missense	4703	exon34			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.3640G>A	2.37:g.152534213C>T	ENSP00000172853:p.Glu1214Lys		152242459	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	15.53	2.862224	0.51482	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.08720	3.06;3.1;3.1;3.06	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	M	0.82630	2.6	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.02813	-1.1107	10	0.30854	T	0.27	.	18.9043	0.92454	0.0:1.0:0.0:0.0	.	1214	P20929	NEBU_HUMAN	K	1214	ENSP00000386259:E1214K;ENSP00000380505:E1214K;ENSP00000416578:E1214K;ENSP00000172853:E1214K	ENSP00000172853:E1214K	E	-	1	0	NEB	152242459	1.000000	0.71417	0.955000	0.39395	0.233000	0.25261	7.776000	0.85560	2.640000	0.89533	0.655000	0.94253	GAA		0.453	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
DDX1	1653	broad.mit.edu	37	2	15742751	15742751	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:15742751G>A	ENST00000381341.2	+	8	776	c.387G>A	c.(385-387)atG>atA	p.M129I	DDX1_ENST00000233084.3_Missense_Mutation_p.M129I			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	129	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.M129I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		AAGGATTAATGAAAGGTATTT	0.373																																					p.M129I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G387A	2						.						130.0	123.0	125.0					2																	15742751		2203	4300	6503	15660202	SO:0001583	missense	1653	exon7			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.387G>A	2.37:g.15742751G>A	ENSP00000370745:p.Met129Ile		15660202	NM_004939	B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544341	0.27563	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.73047	-0.71;-0.71	5.45	4.57	0.56435	Concanavalin A-like lectin/glucanase (1);DEAD-like helicase (1);B30.2/SPRY domain (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.369732	0.32231	N	0.006386	T	0.40956	0.1138	N	0.02539	-0.55	0.26924	N	0.96661	B	0.06786	0.001	B	0.08055	0.003	T	0.22765	-1.0207	10	0.22109	T	0.4	-0.5219	7.4951	0.27483	0.0834:0.0:0.6406:0.276	.	129	Q92499	DDX1_HUMAN	I	129;129;113	ENSP00000370745:M129I;ENSP00000233084:M129I	ENSP00000233084:M129I	M	+	3	0	DDX1	15660202	0.998000	0.40836	0.972000	0.41901	0.985000	0.73830	0.357000	0.20199	1.290000	0.44636	0.655000	0.94253	ATG		0.373	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939	
NEB	4703	broad.mit.edu	37	2	152544143	152544143	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:152544143G>A	ENST00000172853.10	-	26	2667	c.2520C>T	c.(2518-2520)agC>agT	p.S840S	NEB_ENST00000397345.3_Silent_p.S840S|NEB_ENST00000427231.2_Silent_p.S840S|NEB_ENST00000409198.1_Silent_p.S840S|NEB_ENST00000604864.1_Silent_p.S840S|NEB_ENST00000603639.1_Silent_p.S840S			P20929	NEBU_HUMAN	nebulin	840					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)	p.S840S(2)		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)		CACTCACATCGCTGGTGTTCT	0.532																																					p.S840S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2520T	2						.						88.0	81.0	84.0					2																	152544143		1957	4146	6103	152252389	SO:0001819	synonymous_variant	4703	exon26			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.2520C>T	2.37:g.152544143G>A			152252389	NM_001164507	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.532	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
ERMN	57471	broad.mit.edu	37	2	158178290	158178290	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:158178290C>A	ENST00000410096.1	-	3	639	c.348G>T	c.(346-348)gaG>gaT	p.E116D	ERMN_ENST00000397283.2_Missense_Mutation_p.E129D|ERMN_ENST00000535935.1_Missense_Mutation_p.E10D|ERMN_ENST00000409216.1_3'UTR|ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000420719.2_Missense_Mutation_p.E96D	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	116					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)		p.E129D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GAGGAATCTTCTCCCACTGAT	0.413																																					p.E116D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G348T	2						.						46.0	44.0	45.0					2																	158178290		1886	4120	6006	157886536	SO:0001583	missense	57471	exon3			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.348G>T	2.37:g.158178290C>A	ENSP00000387047:p.Glu116Asp		157886536	NM_020711	B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066136	0.36470	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719;ENST00000420317;ENST00000411762	.	.	.	5.77	3.86	0.44501	.	0.652897	0.14949	N	0.289036	T	0.32615	0.0835	N	0.24115	0.695	0.24516	N	0.994184	D;D;D	0.59767	0.986;0.986;0.986	P;P;P	0.53912	0.737;0.737;0.737	T	0.07751	-1.0756	9	0.49607	T	0.09	-19.8237	5.4786	0.16710	0.0:0.6616:0.1659:0.1725	.	96;129;116	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	D	116;129;10;96;116;116	.	ENSP00000380453:E129D	E	-	3	2	ERMN	157886536	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.330000	0.33781	1.441000	0.47550	0.561000	0.74099	GAG		0.413	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959	
PKP4	8502	broad.mit.edu	37	2	159481878	159481878	+	Silent	SNP	C	C	T	rs373991506		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:159481878C>T	ENST00000389759.3	+	7	1204	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	PKP4_ENST00000389757.3_Silent_p.F364F	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	364					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.F364F(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGGAGCAATTCGGACAGCAGC	0.552										HNSCC(62;0.18)																											p.F364F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1092T	2						.	C	,	1,4405	2.1+/-5.4	0,1,2202	84.0	72.0	76.0		1092,1092	-11.1	0.0	2		76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PKP4	NM_001005476.1,NM_003628.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	364/1150,364/1193	159481878	1,13005	2203	4300	6503	159190124	SO:0001819	synonymous_variant	8502	exon7			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1092C>T	2.37:g.159481878C>T			159190124	NM_003628	Q86W91	Silent	SNP	ENST00000389759.3	37	CCDS33305.1																																																																																				0.552	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1		
MARCH7	64844	broad.mit.edu	37	2	160602422	160602422	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:160602422G>A	ENST00000259050.4	+	4	610	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	MARCH7_ENST00000409591.1_Missense_Mutation_p.R125Q|MARCH7_ENST00000539065.1_Intron|MARCH7_ENST00000473749.1_Intron|MARCH7_ENST00000409175.1_Missense_Mutation_p.R163Q	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	163	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R163Q(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TATAGTCACCGAAGTGGTGAT	0.333																																					p.R163Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G488A	2						.						85.0	83.0	84.0					2																	160602422		2203	4300	6503	160310668	SO:0001583	missense	64844	exon4			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.488G>A	2.37:g.160602422G>A	ENSP00000259050:p.Arg163Gln		160310668	NM_022826	A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930292	0.92389	.	.	ENSG00000136536	ENST00000409175;ENST00000259050;ENST00000409591	T;T;T	0.25749	1.79;1.79;1.78	5.47	4.58	0.56647	.	0.200292	0.36519	N	0.002545	T	0.35068	0.0919	M	0.64997	1.995	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.49597	0.478;0.616	T	0.06516	-1.0822	10	0.36615	T	0.2	-9.6759	14.6449	0.68754	0.0713:0.0:0.9287:0.0	.	125;163	B7Z7P5;Q9H992	.;MARH7_HUMAN	Q	163;163;125	ENSP00000386830:R163Q;ENSP00000259050:R163Q;ENSP00000387238:R125Q	ENSP00000259050:R163Q	R	+	2	0	MARCH7	160310668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.562000	0.82300	2.559000	0.86315	0.563000	0.77884	CGA		0.333	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826	
LY75	4065	broad.mit.edu	37	2	160738726	160738726	+	Silent	SNP	T	T	C	rs552702168		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:160738726T>C	ENST00000263636.4	-	7	1182	c.1155A>G	c.(1153-1155)gcA>gcG	p.A385A	LY75_ENST00000554112.1_Silent_p.A385A|LY75-CD302_ENST00000505052.1_Silent_p.A385A|LY75_ENST00000553424.1_Silent_p.A385A|LY75-CD302_ENST00000504764.1_Silent_p.A385A	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	385	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.A385A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTTCGCATGTGCCTTATCCC	0.433																																					p.A385A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1155G	2						.						156.0	150.0	152.0					2																	160738726		2203	4300	6503	160446972	SO:0001819	synonymous_variant	4065	exon7			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1155A>G	2.37:g.160738726T>C			160446972	NM_001198760	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	CCDS2211.1																																																																																				0.433	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
FAP	2191	broad.mit.edu	37	2	163059385	163059385	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:163059385G>A	ENST00000188790.4	-	14	1427	c.1220C>T	c.(1219-1221)tCa>tTa	p.S407L	FAP_ENST00000443424.1_Missense_Mutation_p.S382L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.S407L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TACTTACAGTGAATCCTGTGT	0.358																																					p.S407L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1220T	2						.						147.0	131.0	137.0					2																	163059385		2203	4300	6503	162767631	SO:0001583	missense	2191	exon14			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1220C>T	2.37:g.163059385G>A	ENSP00000188790:p.Ser407Leu		162767631	NM_004460		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.751182	0.31046	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.95447	-3.71;1.48	5.91	5.91	0.95273	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.509383	0.21364	N	0.075741	D	0.87849	0.6281	N	0.02708	-0.52	0.54753	D	0.999986	B;B	0.18310	0.0;0.027	B;B	0.20184	0.006;0.028	D	0.83381	0.0012	10	0.21540	T	0.41	.	15.858	0.79000	0.0:0.0:0.8638:0.1362	.	382;407	B4DLR2;Q12884	.;SEPR_HUMAN	L	407;382	ENSP00000188790:S407L;ENSP00000411391:S382L	ENSP00000188790:S407L	S	-	2	0	FAP	162767631	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.431000	0.66507	2.804000	0.96469	0.650000	0.86243	TCA		0.358	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
IFIH1	64135	broad.mit.edu	37	2	163130424	163130424	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:163130424G>A	ENST00000263642.2	-	12	2730	c.2335C>T	c.(2335-2337)Cgc>Tgc	p.R779C		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	779	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		R -> C (in IDDM19; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; no loss of ATP hydrolysis). {ECO:0000269|PubMed:24686847}.|R -> H (in IDDM19; enhances the interferon signaling pathway activation; enhances the stability of filament formation; enhances dsRNA binding activity; enhances IFNB1 promoter activation; no loss of ATP hydrolysis). {ECO:0000269|PubMed:24686847, ECO:0000269|PubMed:24995871}.		cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.R779C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TTTCCAGTGCGAAATTTACTA	0.313																																					p.R779C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2335T	2						.						119.0	112.0	114.0					2																	163130424		2203	4300	6503	162838670	SO:0001583	missense	64135	exon12			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2335C>T	2.37:g.163130424G>A	ENSP00000263642:p.Arg779Cys		162838670	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991818	0.74703	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.77750	-1.12	5.63	5.63	0.86233	Helicase, C-terminal (3);	0.098090	0.64402	D	0.000001	D	0.90655	0.7069	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.92576	0.6070	10	0.87932	D	0	-11.0038	14.4992	0.67709	0.0:0.0:0.8532:0.1468	.	779	Q9BYX4	IFIH1_HUMAN	C	779	ENSP00000263642:R779C	ENSP00000263642:R779C	R	-	1	0	IFIH1	162838670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.347000	0.59373	2.636000	0.89361	0.655000	0.94253	CGC		0.313	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168	
IFIH1	64135	broad.mit.edu	37	2	163134140	163134140	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:163134140G>A	ENST00000263642.2	-	10	2224	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	610					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.A610V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AATTTGTAGGGCCTCATTGTA	0.328																																					p.A610V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1829T	2						.						132.0	124.0	127.0					2																	163134140		2203	4298	6501	162842386	SO:0001583	missense	64135	exon10			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1829C>T	2.37:g.163134140G>A	ENSP00000263642:p.Ala610Val		162842386	NM_022168	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003618	0.93287	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.07021	3.23	5.66	5.66	0.87406	.	0.048592	0.85682	D	0.000000	T	0.38321	0.1036	M	0.89715	3.055	0.58432	D	0.999995	D	0.89917	1.0	D	0.69142	0.962	T	0.42137	-0.9469	10	0.87932	D	0	-13.9853	19.7554	0.96287	0.0:0.0:1.0:0.0	.	610	Q9BYX4	IFIH1_HUMAN	V	610	ENSP00000263642:A610V	ENSP00000263642:A610V	A	-	2	0	IFIH1	162842386	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.382000	0.79729	2.665000	0.90641	0.563000	0.77884	GCC		0.328	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168	
KCNH7	90134	broad.mit.edu	37	2	163693253	163693253	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:163693253G>A	ENST00000332142.5	-	2	200	c.101C>T	c.(100-102)gCc>gTc	p.A34V	KCNH7_ENST00000328032.4_Missense_Mutation_p.A34V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	34					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A34V(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTGCACTCTGGCATTTGCAAT	0.413																																					p.A34V	GBM(196;1492 2208 17507 24132 45496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C101T	2						.						60.0	54.0	56.0					2																	163693253		2203	4300	6503	163401499	SO:0001583	missense	90134	exon2			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.101C>T	2.37:g.163693253G>A	ENSP00000331727:p.Ala34Val		163401499	NM_173162	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421249	0.96111	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99660	-6.32;-6.32	6.08	6.08	0.98989	PAS (1);	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	M	0.86420	2.815	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	D	0.98216	1.0475	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	34;34	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	V	34	ENSP00000331727:A34V;ENSP00000333781:A34V	ENSP00000333781:A34V	A	-	2	0	KCNH7	163401499	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GCC		0.413	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
FIGN	55137	broad.mit.edu	37	2	164466915	164466915	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:164466915A>C	ENST00000333129.3	-	3	1741	c.1427T>G	c.(1426-1428)aTt>aGt	p.I476S	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	476					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.I476S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTGGGTGATAATCTCATTGGT	0.517																																					p.I476S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1427G	2						.						133.0	126.0	128.0					2																	164466915		2066	4216	6282	164175161	SO:0001583	missense	55137	exon3			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1427T>G	2.37:g.164466915A>C	ENSP00000333836:p.Ile476Ser		164175161	NM_018086	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047348	0.55110	.	.	ENSG00000182263	ENST00000333129	D	0.94650	-3.48	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.78916	2.43	0.80722	D	1	D	0.57257	0.979	D	0.68353	0.957	D	0.97335	0.9953	10	0.62326	D	0.03	-22.893	16.3245	0.82970	1.0:0.0:0.0:0.0	.	476	Q5HY92	FIGN_HUMAN	S	476	ENSP00000333836:I476S	ENSP00000333836:I476S	I	-	2	0	FIGN	164175161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.254000	0.74563	0.460000	0.39030	ATT		0.517	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
COBLL1	22837	broad.mit.edu	37	2	165551820	165551820	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:165551820T>G	ENST00000392717.2	-	13	2314	c.2310A>C	c.(2308-2310)aaA>aaC	p.K770N	COBLL1_ENST00000194871.6_Missense_Mutation_p.K799N|COBLL1_ENST00000375458.2_Missense_Mutation_p.K694N|COBLL1_ENST00000342193.4_Missense_Mutation_p.K732N|COBLL1_ENST00000409184.3_Missense_Mutation_p.K732N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	770						extracellular vesicular exosome (GO:0070062)		p.K732N(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAGTGGAATTTTTGTCAATCC	0.378																																					p.K732N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2196C	2						.						160.0	160.0	160.0					2																	165551820		2203	4300	6503	165260066	SO:0001583	missense	22837	exon12			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2310A>C	2.37:g.165551820T>G	ENSP00000376478:p.Lys770Asn		165260066	NM_014900	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37		.	.	.	.	.	.	.	.	.	.	T	14.77	2.635279	0.47049	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.03	3.66	0.41972	.	0.072732	0.64402	D	0.000018	T	0.68504	0.3008	L	0.58101	1.795	0.37042	D	0.897206	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76575	0.988;0.988;0.974	T	0.71715	-0.4509	9	0.72032	D	0.01	-12.774	8.414	0.32659	0.0:0.0686:0.1328:0.7986	.	770;799;732	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	N	694;732;732;770;799	.	ENSP00000194871:K799N	K	-	3	2	COBLL1	165260066	0.997000	0.39634	0.766000	0.31476	0.291000	0.27294	1.827000	0.39102	0.519000	0.28406	0.455000	0.32223	AAA		0.378	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900	
SCN3A	6328	broad.mit.edu	37	2	165953947	165953947	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:165953947T>C	ENST00000360093.3	-	23	4545	c.4054A>G	c.(4054-4056)Atg>Gtg	p.M1352V	SCN3A_ENST00000283254.7_Missense_Mutation_p.M1352V|SCN3A_ENST00000409101.3_Missense_Mutation_p.M1303V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1352					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.M1352V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCACACCCATGATGCTAAAG	0.413																																					p.M1352V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4054G	2						.						145.0	130.0	135.0					2																	165953947		2203	4300	6503	165662193	SO:0001583	missense	6328	exon23			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4054A>G	2.37:g.165953947T>C	ENSP00000353206:p.Met1352Val		165662193	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	23.7	4.444197	0.83993	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	5.72	5.72	0.89469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98403	0.9469	L	0.55743	1.74	0.80722	D	1	P;P;P;P;P	0.50710	0.938;0.843;0.917;0.917;0.871	D;D;D;D;P	0.64506	0.918;0.926;0.915;0.915;0.72	D	0.99593	1.0976	10	0.59425	D	0.04	.	16.2988	0.82793	0.0:0.0:0.0:1.0	.	1352;1303;1303;1303;1352	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	V	1352;1352;1303;1303	ENSP00000353206:M1352V;ENSP00000283254:M1352V;ENSP00000386726:M1303V;ENSP00000403348:M1303V	ENSP00000283254:M1352V	M	-	1	0	SCN3A	165662193	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.311000	0.77944	0.533000	0.62120	ATG		0.413	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
FAM49A	81553	broad.mit.edu	37	2	16743285	16743285	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:16743285G>A	ENST00000381323.3	-	6	643	c.423C>T	c.(421-423)ttC>ttT	p.F141F	FAM49A_ENST00000355549.2_Silent_p.F141F|FAM49A_ENST00000406434.1_Silent_p.F141F	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	141						intracellular (GO:0005622)		p.F141F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TCAGCTCATCGAATCGAAGGG	0.453																																					p.F141F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423T	2						.						94.0	98.0	97.0					2																	16743285		2203	4300	6503	16606766	SO:0001819	synonymous_variant	81553	exon6			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.423C>T	2.37:g.16743285G>A			16606766	NM_030797	B3KNZ1|Q53QW2	Silent	SNP	ENST00000381323.3	37	CCDS1688.1																																																																																				0.453	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797	
SCN2A	6326	broad.mit.edu	37	2	166165719	166165719	+	Intron	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:166165719G>A	ENST00000375437.2	+	6	895				SCN2A_ENST00000375427.2_Missense_Mutation_p.R217Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R217Q|SCN2A_ENST00000283256.6_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit						intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R217Q(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAGCTCTTCGAACTTTCAGA	0.363																																					p.R217Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G650A	2						.						74.0	73.0	73.0					2																	166165719		2201	4298	6499	165873965	SO:0001627	intron_variant	6326	exon5			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.606-143G>A	2.37:g.166165719G>A			165873965	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475952	0.84640	.	.	ENSG00000136531	ENST00000357398;ENST00000375427	D;D	0.98617	-5.03;-5.03	5.48	5.48	0.80851	.	0.220091	0.32328	N	0.006260	D	0.99196	0.9721	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99727	1.1011	9	0.87932	D	0	.	19.706	0.96072	0.0:0.0:1.0:0.0	.	217	Q99250-2	.	Q	217	ENSP00000349973:R217Q;ENSP00000364576:R217Q	ENSP00000349973:R217Q	R	+	2	0	SCN2A	165873965	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.733000	0.93635	0.655000	0.94253	CGA		0.363	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
SCN1A	6323	broad.mit.edu	37	2	166848898	166848898	+	Silent	SNP	G	G	A	rs587780445		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:166848898G>A	ENST00000303395.4	-	26	4886	c.4887C>T	c.(4885-4887)ttC>ttT	p.F1629F	SCN1A_ENST00000423058.2_Silent_p.F1629F|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.F1601F|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F1618F			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1629					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.F1618F(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAGGGGACACGAAATACTTTT	0.433																																					p.F1601F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4803T	2						.						90.0	90.0	90.0					2																	166848898		2203	4300	6503	166557144	SO:0001819	synonymous_variant	6323	exon26			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4887C>T	2.37:g.166848898G>A			166557144	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	CCDS54413.1																																																																																				0.433	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166866314	166866314	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:166866314T>C	ENST00000303395.4	-	20	3916	c.3917A>G	c.(3916-3918)tAc>tGc	p.Y1306C	SCN1A_ENST00000423058.2_Missense_Mutation_p.Y1306C|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Y1278C|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.Y1295C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1306					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.Y1295C(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGTTCTGAGTAACCCAAGGC	0.373																																					p.Y1278C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3833G	2						.						93.0	91.0	92.0					2																	166866314		2203	4300	6503	166574560	SO:0001583	missense	6323	exon20			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3917A>G	2.37:g.166866314T>C	ENSP00000303540:p.Tyr1306Cys		166574560	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.445475	0.63178	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.46	5.46	0.80206	Ion transport (1);	0.000000	0.56097	D	0.000026	D	0.99023	0.9666	M	0.88775	2.98	0.48696	D	0.999697	D;D;D	0.89917	0.999;0.992;1.0	D;P;D	0.74674	0.976;0.905;0.984	D	0.99667	1.0995	10	0.87932	D	0	.	15.5449	0.76090	0.0:0.0:0.0:1.0	.	1295;1278;1306	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	1306;1306;1295;1278	ENSP00000407030:Y1306C;ENSP00000303540:Y1306C;ENSP00000364554:Y1295C;ENSP00000386312:Y1278C	ENSP00000303540:Y1306C	Y	-	2	0	SCN1A	166574560	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.984000	0.56923	2.078000	0.62432	0.528000	0.53228	TAC		0.373	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166898891	166898891	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:166898891G>T	ENST00000303395.4	-	12	2086	c.2087C>A	c.(2086-2088)tCt>tAt	p.S696Y	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.S696Y|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S668Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.S685Y|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	696					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.S685Y(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACGTGGAAAGAACTTGACCT	0.363																																					p.S668Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2003A	2						.						150.0	144.0	146.0					2																	166898891		2203	4300	6503	166607137	SO:0001583	missense	6323	exon12			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2087C>A	2.37:g.166898891G>T	ENSP00000303540:p.Ser696Tyr		166607137	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530209	0.64860	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	5.82	5.82	0.92795	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000003	D	0.95153	0.8429	M	0.86573	2.825	0.45791	D	0.998672	P;P;P	0.48503	0.891;0.911;0.599	P;P;B	0.52267	0.568;0.694;0.246	D	0.95550	0.8620	10	0.87932	D	0	.	15.5745	0.76365	0.0:0.1371:0.8629:0.0	.	685;668;696	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Y	696;696;685;668	ENSP00000407030:S696Y;ENSP00000303540:S696Y;ENSP00000364554:S685Y;ENSP00000386312:S668Y	ENSP00000303540:S696Y	S	-	2	0	SCN1A	166607137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.281000	0.58965	2.745000	0.94114	0.655000	0.94253	TCT		0.363	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166904178	166904178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:166904178G>A	ENST00000303395.4	-	8	1128	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.R377*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R377*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R377*|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	377			R -> Q (in GEFS+2; dbSNP:rs121917957). {ECO:0000269|PubMed:18413471}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R377*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCATTAGTCGAAACAAGGAC	0.388																																					p.R377X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1129T	2	GRCh37	CM067015	SCN1A	M		.						118.0	122.0	121.0					2																	166904178		2203	4300	6503	166612424	SO:0001587	stop_gained	6323	exon8			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1129C>T	2.37:g.166904178G>A	ENSP00000303540:p.Arg377*		166612424	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	36	5.850070	0.97023	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.22	3.34	0.38264	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1995	0.65693	0.0:0.0:0.7269:0.2731	.	.	.	.	X	377	.	ENSP00000303540:R377X	R	-	1	2	SCN1A	166612424	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.847000	0.62867	0.643000	0.30638	-0.181000	0.13052	CGA		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN1A	6323	broad.mit.edu	37	2	166908247	166908247	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:166908247A>C	ENST00000303395.4	-	6	945	c.946T>G	c.(946-948)Tca>Gca	p.S316A	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.S316A|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S316A|SCN1A_ENST00000375405.3_Missense_Mutation_p.S316A|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	316					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.S316A(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGAATATATGACTTCCAGTCA	0.308																																					p.S316A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T946G	2						.						47.0	48.0	48.0					2																	166908247		2202	4297	6499	166616493	SO:0001583	missense	6323	exon6			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.946T>G	2.37:g.166908247A>C	ENSP00000303540:p.Ser316Ala		166616493	NM_001165964	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	5.144	0.212245	0.09757	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95885	-3.84;-3.84;-3.79;-3.78	5.41	5.41	0.78517	Ion transport (1);	0.490245	0.19054	N	0.123958	D	0.85057	0.5610	N	0.01152	-0.98	0.23266	N	0.998016	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.17433	0.014;0.01;0.018	T	0.74016	-0.3800	10	0.23891	T	0.37	.	11.3246	0.49442	0.7263:0.2737:0.0:0.0	.	316;316;316	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	A	316	ENSP00000407030:S316A;ENSP00000303540:S316A;ENSP00000364554:S316A;ENSP00000386312:S316A	ENSP00000303540:S316A	S	-	1	0	SCN1A	166616493	0.081000	0.21417	0.998000	0.56505	0.972000	0.66771	1.628000	0.37060	2.171000	0.68590	0.533000	0.62120	TCA		0.308	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920	
SCN9A	6335	broad.mit.edu	37	2	167055814	167055814	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:167055814A>C	ENST00000409435.1	-	26	5334	c.5335T>G	c.(5335-5337)Ttt>Gtt	p.F1779V	SCN9A_ENST00000409672.1_Missense_Mutation_p.F1768V|SCN9A_ENST00000303354.6_Missense_Mutation_p.F1780V|SCN9A_ENST00000375387.4_Missense_Mutation_p.F1780V|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1779					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.F1768V(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACATCTCAAAGTCATCCTCA	0.443																																					p.F1768V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5302G	2						.						120.0	124.0	122.0					2																	167055814		2203	4300	6503	166764060	SO:0001583	missense	6335	exon27			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5335T>G	2.37:g.167055814A>C	ENSP00000386330:p.Phe1779Val		166764060	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098592	0.76870	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	T;T;T;T	0.08546	3.08;3.08;3.08;3.08	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000007	T	0.32615	0.0835	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.05937	-1.0855	10	0.87932	D	0	.	16.2479	0.82454	1.0:0.0:0.0:0.0	.	1768	E7EUN6	.	V	1768;1780;1780;1779	ENSP00000386306:F1768V;ENSP00000364536:F1780V;ENSP00000304748:F1780V;ENSP00000386330:F1779V	ENSP00000304748:F1780V	F	-	1	0	SCN9A	166764060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.241000	0.73720	0.533000	0.62120	TTT		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167056027	167056027	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:167056027G>T	ENST00000409435.1	-	26	5121	c.5122C>A	c.(5122-5124)Ctt>Att	p.L1708I	SCN9A_ENST00000409672.1_Missense_Mutation_p.L1697I|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1709I|SCN9A_ENST00000375387.4_Missense_Mutation_p.L1709I|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1708					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.L1697I(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTACTGTTAAGAATAGGTGCT	0.413																																					p.L1697I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5089A	2						.						200.0	214.0	209.0					2																	167056027		2203	4300	6503	166764273	SO:0001583	missense	6335	exon27			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5122C>A	2.37:g.167056027G>T	ENSP00000386330:p.Leu1708Ile		166764273	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272848	0.59649	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13	5.86	5.86	0.93980	.	0.000000	0.53938	D	0.000053	D	0.98661	0.9551	L	0.42632	1.34	0.54753	D	0.999983	D	0.89917	1.0	D	0.83275	0.996	D	0.98914	1.0781	10	0.35671	T	0.21	.	20.1802	0.98196	0.0:0.0:1.0:0.0	.	1697	E7EUN6	.	I	1697;1709;1709;1708	ENSP00000386306:L1697I;ENSP00000364536:L1709I;ENSP00000304748:L1709I;ENSP00000386330:L1708I	ENSP00000304748:L1709I	L	-	1	0	SCN9A	166764273	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.543000	0.60684	2.777000	0.95525	0.655000	0.94253	CTT		0.413	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
SCN9A	6335	broad.mit.edu	37	2	167085344	167085344	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:167085344C>T	ENST00000409435.1	-	21	4062	c.4063G>A	c.(4063-4065)Gat>Aat	p.D1355N	SCN9A_ENST00000409672.1_Missense_Mutation_p.D1344N|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1356N|SCN9A_ENST00000375387.4_Missense_Mutation_p.D1356N|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1355					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.D1344N(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTGACCCATCTGTGGTGTTA	0.398																																					p.D1344N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4030A	2						.						211.0	217.0	215.0					2																	167085344		2090	4255	6345	166793590	SO:0001583	missense	6335	exon22			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4063G>A	2.37:g.167085344C>T	ENSP00000386330:p.Asp1355Asn		166793590	NM_002977	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922564	0.33908	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96587	-4.03;-4.06;-4.05;-4.05	5.23	2.42	0.29668	.	0.310949	0.27966	N	0.017132	D	0.88669	0.6499	N	0.14661	0.345	0.27260	N	0.958667	B	0.11235	0.004	B	0.16722	0.016	T	0.75926	-0.3145	10	0.09084	T	0.74	.	8.0255	0.30434	0.0:0.6296:0.0:0.3704	.	1344	E7EUN6	.	N	1344;1356;1356;1355	ENSP00000386306:D1344N;ENSP00000364536:D1356N;ENSP00000304748:D1356N;ENSP00000386330:D1355N	ENSP00000304748:D1356N	D	-	1	0	SCN9A	166793590	0.000000	0.05858	1.000000	0.80357	0.700000	0.40528	-0.006000	0.12833	1.214000	0.43395	0.557000	0.71058	GAT		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
PXDN	7837	broad.mit.edu	37	2	1691419	1691419	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:1691419G>A	ENST00000252804.4	-	4	451	c.401C>T	c.(400-402)gCc>gTc	p.A134V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	134					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A134V(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCTAGAGAGGCAAGTCCCTT	0.478																																					p.A134V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C401T	2						.						80.0	78.0	79.0					2																	1691419		1974	4146	6120	1670426	SO:0001583	missense	7837	exon4			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.401C>T	2.37:g.1691419G>A	ENSP00000252804:p.Ala134Val		1670426	NM_012293	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.74|10.74	1.434837|1.434837	0.25813|0.25813	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.56444|.	0.46|.	5.66|5.66	3.86|3.86	0.44501|0.44501	.|.	0.532223|.	0.21304|.	N|.	0.076755|.	T|T	0.51075|0.51075	0.1653|0.1653	L|L	0.31752|0.31752	0.955|0.955	0.38235|0.38235	D|D	0.941143|0.941143	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.11329|.	0.005;0.006|.	T|T	0.51639|0.51639	-0.8680|-0.8680	10|5	0.36615|.	T|.	0.2|.	-24.5153|-24.5153	11.5809|11.5809	0.50891|0.50891	0.1434:0.0:0.8566:0.0|0.1434:0.0:0.8566:0.0	.|.	134;134|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	V|S	134|130	ENSP00000252804:A134V|.	ENSP00000252804:A134V|.	A|P	-|-	2|1	0|0	PXDN|PXDN	1670426|1670426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.035000|5.035000	0.64158|0.64158	1.396000|1.396000	0.46663|0.46663	0.609000|0.609000	0.83330|0.83330	GCC|CCT		0.478	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
SCN7A	6332	broad.mit.edu	37	2	167284337	167284337	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:167284337A>C	ENST00000409855.1	-	17	2940	c.2814T>G	c.(2812-2814)tgT>tgG	p.C938W		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	938					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.C938W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GCCCAATAAAACACTTAAACC	0.433																																					p.C938W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2814G	2						.						120.0	115.0	116.0					2																	167284337		1891	4117	6008	166992583	SO:0001583	missense	6332	exon17			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2814T>G	2.37:g.167284337A>C	ENSP00000386796:p.Cys938Trp		166992583	NM_002976		Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.034496	0.35893	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.83673	-1.75	5.02	2.5	0.30297	Sodium ion transport-associated (1);	0.102504	0.44097	D	0.000487	D	0.86510	0.5950	M	0.68317	2.08	0.51233	D	0.999913	D	0.76494	0.999	D	0.73380	0.98	D	0.84749	0.0755	10	0.87932	D	0	.	3.9313	0.09286	0.6294:0.183:0.1875:0.0	.	938	Q01118	SCN7A_HUMAN	W	938	ENSP00000386796:C938W	ENSP00000259060:C938W	C	-	3	2	SCN7A	166992583	0.016000	0.18221	0.994000	0.49952	0.317000	0.28152	-0.037000	0.12164	1.042000	0.40150	-0.353000	0.07706	TGT		0.433	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
XIRP2	129446	broad.mit.edu	37	2	168074699	168074699	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:168074699C>T	ENST00000409728.1	+	6	935	c.846C>T	c.(844-846)tgC>tgT	p.C282C	XIRP2_ENST00000420519.1_Silent_p.C282C|XIRP2_ENST00000409273.1_Silent_p.C27C|XIRP2_ENST00000295237.9_Silent_p.C249C|XIRP2_ENST00000409605.1_Silent_p.C27C|XIRP2_ENST00000409043.1_Silent_p.C249C|XIRP2_ENST00000409756.2_Silent_p.C249C|XIRP2_ENST00000409195.1_Silent_p.C249C	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	74	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.C249C(2)|p.C282C(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGAAATGTGCGCAGTGCCTG	0.383																																					p.C282C												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C846T	2						.						98.0	99.0	99.0					2																	168074699		1893	4113	6006	167782945	SO:0001819	synonymous_variant	129446	exon6			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.846C>T	2.37:g.168074699C>T			167782945	NM_001199143	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409728.1	37	CCDS56143.1																																																																																				0.383	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168102324	168102324	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:168102324C>A	ENST00000409195.1	+	9	4511	c.4422C>A	c.(4420-4422)atC>atA	p.I1474I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I1252I|XIRP2_ENST00000295237.9_Silent_p.I1474I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1299					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.I1474I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGAAAATATCAAGACAGTCA	0.373																																					p.I1252I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3756A	2						.						106.0	96.0	99.0					2																	168102324		1940	4143	6083	167810570	SO:0001819	synonymous_variant	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4422C>A	2.37:g.168102324C>A			167810570	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168102399	168102399	+	Silent	SNP	C	C	T	rs201676457	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:168102399C>T	ENST00000409195.1	+	9	4586	c.4497C>T	c.(4495-4497)ttC>ttT	p.F1499F	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.F1277F|XIRP2_ENST00000295237.9_Silent_p.F1499F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1324					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.F1499F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCGAACTTTCGATTCTATTA	0.388													C|||	2	0.000399361	0.0	0.0	5008	,	,		18953	0.001		0.0	False		,,,				2504	0.001				p.F1277F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3831T	2						.	C	,,,,	0,3840		0,0,1920	87.0	79.0	82.0		,,3831,,4497	-3.9	0.9	2		82	1,8267		0,1,4133	no	intron,intron,coding-synonymous,intron,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199144.1,NM_001199145.1,NM_152381.5	,,,,	0,1,6053	TT,TC,CC		0.0121,0.0,0.0083	,,,,	,,1277/3328,,1499/3550	168102399	1,12107	1920	4134	6054	167810645	SO:0001819	synonymous_variant	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4497C>T	2.37:g.168102399C>T			167810645	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																				0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168104015	168104015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:168104015C>T	ENST00000409195.1	+	9	6202	c.6113C>T	c.(6112-6114)gCt>gTt	p.A2038V	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1816V|XIRP2_ENST00000295237.9_Missense_Mutation_p.A2038V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1863					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.A2038V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACAATGATGCTCTGGAGAAA	0.393																																					p.A1816V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5447T	2						.						72.0	67.0	68.0					2																	168104015		1850	4089	5939	167812261	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6113C>T	2.37:g.168104015C>T	ENSP00000386840:p.Ala2038Val		167812261	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107645	0.37145	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.22945	1.93;1.93;1.93	5.73	4.83	0.62350	.	0.550361	0.19977	N	0.101853	T	0.43411	0.1246	M	0.67953	2.075	0.37048	D	0.897483	P;D;P	0.67145	0.639;0.996;0.525	B;D;B	0.63877	0.122;0.919;0.164	T	0.47249	-0.9132	10	0.37606	T	0.19	-10.7116	9.6909	0.40127	0.0:0.7786:0.1444:0.077	.	1863;1863;1816	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	2038;2038;1816	ENSP00000386840:A2038V;ENSP00000295237:A2038V;ENSP00000387255:A1816V	ENSP00000295237:A2038V	A	+	2	0	XIRP2	167812261	0.843000	0.29541	1.000000	0.80357	0.995000	0.86356	0.231000	0.17872	1.396000	0.46663	0.650000	0.86243	GCT		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168105357	168105357	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:168105357T>G	ENST00000409195.1	+	9	7544	c.7455T>G	c.(7453-7455)agT>agG	p.S2485R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2263R|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2485R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2310					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S2485R(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTAGTAAGAGTCTTGATGAAA	0.388																																					p.S2263R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6789G	2						.						80.0	76.0	77.0					2																	168105357		1909	4134	6043	167813603	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7455T>G	2.37:g.168105357T>G	ENSP00000386840:p.Ser2485Arg		167813603	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.958494	0.34565	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.24	5.81	-3.35	0.04928	.	0.739814	0.13602	N	0.375790	T	0.02807	0.0084	L	0.57536	1.79	0.09310	N	1	P;P;P	0.42203	0.664;0.773;0.773	B;B;B	0.43274	0.235;0.414;0.316	T	0.36089	-0.9762	10	0.16420	T	0.52	-1.1537	1.084	0.01648	0.2061:0.2743:0.1113:0.4084	.	2310;2310;2263	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	2485;2485;2263	ENSP00000386840:S2485R;ENSP00000295237:S2485R;ENSP00000387255:S2263R	ENSP00000295237:S2485R	S	+	3	2	XIRP2	167813603	0.000000	0.05858	0.094000	0.20943	0.664000	0.39144	-0.505000	0.06367	-0.426000	0.07360	0.523000	0.50628	AGT		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	broad.mit.edu	37	2	168106477	168106477	+	Missense_Mutation	SNP	G	G	A	rs201728014		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:168106477G>A	ENST00000409195.1	+	9	8664	c.8575G>A	c.(8575-8577)Gat>Aat	p.D2859N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2637N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2859N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2684					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D2859N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAGGTTATCGATGCACATCT	0.363																																					p.D2637N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7909A	2						.	G	,,,ASN/ASP,ASN/ASP	0,3776		0,0,1888	118.0	114.0	116.0		,,,8575,7909	3.3	0.0	2		116	1,8221		0,1,4110	no	intron,intron,intron,missense,missense	XIRP2	NM_001079810.3,NM_001199143.1,NM_001199145.1,NM_152381.5,NM_001199144.1	,,,23,23	0,1,5998	AA,AG,GG		0.0122,0.0,0.0083	,,,benign,benign	,,,2859/3550,2637/3328	168106477	1,11997	1888	4111	5999	167814723	SO:0001583	missense	129446	exon7			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8575G>A	2.37:g.168106477G>A	ENSP00000386840:p.Asp2859Asn		167814723	NM_001199144	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	4.243	0.044094	0.08196	0.0	1.22E-4	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02498	4.27;4.27;4.27	6.02	3.26	0.37387	.	1.293870	0.04703	N	0.416255	T	0.02418	0.0074	N	0.12746	0.255	0.09310	N	1	B;B;B	0.18741	0.017;0.03;0.03	B;B;B	0.09377	0.002;0.004;0.004	T	0.48399	-0.9039	10	0.11182	T	0.66	-0.6717	11.1598	0.48509	0.2052:0.0:0.7948:0.0	.	2684;2684;2637	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2859;2859;2637;273	ENSP00000386840:D2859N;ENSP00000295237:D2859N;ENSP00000387255:D2637N	ENSP00000295237:D2859N	D	+	1	0	XIRP2	167814723	0.012000	0.17670	0.000000	0.03702	0.286000	0.27126	1.193000	0.32162	0.437000	0.26423	0.655000	0.94253	GAT		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
STK39	27347	broad.mit.edu	37	2	168821198	168821198	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:168821198C>T	ENST00000355999.4	-	17	2242	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	513					cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)	p.A513T(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GTTTTTAAAGCTTTGGGATCA	0.338																																					p.A513T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1537A	2						.						134.0	127.0	129.0					2																	168821198		1810	4077	5887	168529444	SO:0001583	missense	27347	exon17			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.1537G>A	2.37:g.168821198C>T	ENSP00000348278:p.Ala513Thr		168529444	NM_013233	O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	ENST00000355999.4	37	CCDS42770.1	.	.	.	.	.	.	.	.	.	.	C	7.166	0.586772	0.13749	.	.	ENSG00000198648	ENST00000355999	T	0.72167	-0.63	5.71	4.84	0.62591	.	0.066095	0.64402	D	0.000003	T	0.42765	0.1217	N	0.04355	-0.22	0.41784	D	0.989832	B	0.06786	0.001	B	0.06405	0.002	T	0.41466	-0.9507	10	0.02654	T	1	-38.2216	10.9971	0.47582	0.0:0.8577:0.0:0.1423	.	513	Q9UEW8	STK39_HUMAN	T	513	ENSP00000348278:A513T	ENSP00000348278:A513T	A	-	1	0	STK39	168529444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.974000	0.63771	1.428000	0.47296	0.655000	0.94253	GCT		0.338	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258112.2	NM_013233	
ABCB11	8647	broad.mit.edu	37	2	169781216	169781216	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:169781216A>G	ENST00000263817.6	-	27	3840	c.3716T>C	c.(3715-3717)aTc>aCc	p.I1239T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1239	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.I1239T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TAGTAGCAAGATTTTAGGATC	0.408																																					p.I1239T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3716C	2						.						101.0	102.0	102.0					2																	169781216		1865	4104	5969	169489462	SO:0001583	missense	8647	exon27			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3716T>C	2.37:g.169781216A>G	ENSP00000263817:p.Ile1239Thr		169489462	NM_003742	Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596061	0.86953	.	.	ENSG00000073734	ENST00000263817	D	0.95137	-3.62	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	D	0.98965	1.0799	10	0.87932	D	0	.	15.9338	0.79686	1.0:0.0:0.0:0.0	.	657;1239	B4DZQ8;O95342	.;ABCBB_HUMAN	T	1239	ENSP00000263817:I1239T	ENSP00000263817:I1239T	I	-	2	0	ABCB11	169489462	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.295000	0.96095	2.167000	0.68274	0.456000	0.33151	ATC		0.408	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
LRP2	4036	broad.mit.edu	37	2	170129509	170129509	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:170129509T>G	ENST00000263816.3	-	15	2329	c.2044A>C	c.(2044-2046)Aat>Cat	p.N682H	LRP2_ENST00000443831.1_Missense_Mutation_p.N613H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	682	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.N682H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AAACCATCATTATCTGTTCTG	0.473																																					p.N682H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2044C	2						.						190.0	177.0	181.0					2																	170129509		2203	4300	6503	169837755	SO:0001583	missense	4036	exon15				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2044A>C	2.37:g.170129509T>G	ENSP00000263816:p.Asn682His		169837755	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806612	0.90623	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94650	-2.64;-3.48	5.5	5.5	0.81552	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97062	0.9040	M	0.80982	2.52	0.28960	N	0.88987	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.93982	0.7259	10	0.39692	T	0.17	.	15.8976	0.79346	0.0:0.0:0.0:1.0	.	613;682	E9PC35;P98164	.;LRP2_HUMAN	H	682;613	ENSP00000263816:N682H;ENSP00000409813:N613H	ENSP00000263816:N682H	N	-	1	0	LRP2	169837755	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	7.948000	0.87774	2.212000	0.71576	0.528000	0.53228	AAT		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170147483	170147483	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:170147483T>G	ENST00000263816.3	-	8	1079	c.794A>C	c.(793-795)aAa>aCa	p.K265T	LRP2_ENST00000443831.1_Missense_Mutation_p.K265T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	265	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.K265T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGGGAACATTTATGAACATC	0.453																																					p.K265T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A794C	2						.						116.0	114.0	115.0					2																	170147483		2203	4300	6503	169855729	SO:0001583	missense	4036	exon8				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.794A>C	2.37:g.170147483T>G	ENSP00000263816:p.Lys265Thr		169855729	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	9.286	1.049457	0.19827	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95205	-3.64;-3.64	5.39	3.02	0.34903	.	0.565478	0.19111	N	0.122453	D	0.83252	0.5214	N	0.03304	-0.355	0.09310	N	1	B;B	0.16166	0.009;0.016	B;B	0.16722	0.016;0.016	T	0.70342	-0.4898	9	.	.	.	.	7.8064	0.29204	0.0:0.0754:0.1734:0.7512	.	265;265	E9PC35;P98164	.;LRP2_HUMAN	T	265	ENSP00000263816:K265T;ENSP00000409813:K265T	.	K	-	2	0	LRP2	169855729	0.043000	0.20138	0.011000	0.14972	0.049000	0.14656	2.443000	0.44881	0.427000	0.26145	0.533000	0.62120	AAA		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
PPIG	9360	broad.mit.edu	37	2	170493045	170493045	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:170493045T>G	ENST00000260970.3	+	14	1497	c.1277T>G	c.(1276-1278)gTt>gGt	p.V426G	PPIG_ENST00000448752.2_Missense_Mutation_p.V426G|PPIG_ENST00000409714.3_Missense_Mutation_p.V411G|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	426					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.V426G(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GAGAAGAAAGTTAAAGACCAT	0.323																																					p.V426G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1277G	2						.						50.0	51.0	51.0					2																	170493045		2191	4288	6479	170201291	SO:0001583	missense	9360	exon14			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1277T>G	2.37:g.170493045T>G	ENSP00000260970:p.Val426Gly		170201291	NM_004792	D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627275	0.28978	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000448752	T;T;T;T	0.23950	2.28;1.88;2.28;2.28	5.92	-0.815	0.10843	.	0.959818	0.08693	N	0.907557	T	0.12050	0.0293	N	0.08118	0	0.39919	D	0.974132	B;B;P;B	0.35575	0.02;0.002;0.51;0.002	B;B;B;B	0.29077	0.01;0.007;0.098;0.007	T	0.08597	-1.0714	10	0.87932	D	0	-0.947	9.6367	0.39811	0.0:0.5801:0.0:0.4199	.	419;411;411;426	C9JM79;E9PG73;Q2NKQ6;Q13427	.;.;.;PPIG_HUMAN	G	426;426;419;411;426	ENSP00000260970:V426G;ENSP00000408683:V419G;ENSP00000386245:V411G;ENSP00000407083:V426G	ENSP00000260970:V426G	V	+	2	0	PPIG	170201291	0.975000	0.34042	0.991000	0.47740	0.995000	0.86356	0.086000	0.14935	-0.085000	0.12573	0.533000	0.62120	GTT		0.323	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2		
KLHL23	151230	broad.mit.edu	37	2	170592269	170592269	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:170592269G>A	ENST00000392647.2	+	2	989	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.E249K	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	249								p.E249K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCTGCTCACCGAAAATAAGAT	0.393																																					p.E249K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G745A	2						.						69.0	72.0	71.0					2																	170592269		2203	4300	6503	170300515	SO:0001583	missense	151230	exon4			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.745G>A	2.37:g.170592269G>A	ENSP00000376419:p.Glu249Lys		170300515	NM_001199290	Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805530	0.70682	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.70631	-0.48;-0.48;-0.5	5.81	5.81	0.92471	.	0.096052	0.64402	D	0.000001	T	0.51736	0.1692	N	0.08118	0	0.31890	N	0.617308	P	0.38729	0.644	B	0.28849	0.095	T	0.63328	-0.6662	9	0.52906	T	0.07	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	249	Q8NBE8	KLH23_HUMAN	K	249;249;70	ENSP00000272797:E249K;ENSP00000376419:E249K;ENSP00000394732:E70K	ENSP00000272797:E249K	E	+	1	0	KLHL23	170300515	1.000000	0.71417	0.964000	0.40570	0.811000	0.45836	6.638000	0.74309	2.738000	0.93877	0.655000	0.94253	GAA		0.393	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711	
UBR3	130507	broad.mit.edu	37	2	170815005	170815005	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:170815005G>T	ENST00000272793.5	+	24	3653	c.3603G>T	c.(3601-3603)caG>caT	p.Q1201H	UBR3_ENST00000418381.1_Missense_Mutation_p.Q1201H			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1201					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1201H(1)|p.Q54H(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CTTCACGACAGAAAAGCTTTA	0.363																																					p.Q1201H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3603T	2						.						101.0	109.0	106.0					2																	170815005		2203	4300	6503	170523251	SO:0001583	missense	130507	exon24			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3603G>T	2.37:g.170815005G>T	ENSP00000272793:p.Gln1201His		170523251	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.211651|4.211651	0.79240|0.79240	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381|ENST00000392632	T;T|.	0.56275|.	0.47;0.47|.	5.96|5.96	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75034|0.75034	0.3795|0.3795	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.99|.	D;D|.	0.75484|.	0.986;0.979|.	T|T	0.76809|0.76809	-0.2822|-0.2822	10|5	0.87932|.	D|.	0|.	.|.	11.2269|11.2269	0.48888|0.48888	0.1393:0.0:0.8607:0.0|0.1393:0.0:0.8607:0.0	.|.	1201;1201|.	Q6ZT12;E7EVK3|.	UBR3_HUMAN;.|.	H|I	1201|259	ENSP00000272793:Q1201H;ENSP00000396068:Q1201H|.	ENSP00000272793:Q1201H|.	Q|R	+|+	3|2	2|0	UBR3|UBR3	170523251|170523251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.899000|4.899000	0.63245|0.63245	1.529000|1.529000	0.49120|0.49120	0.643000|0.643000	0.83706|0.83706	CAG|AGA		0.363	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
MYO3B	140469	broad.mit.edu	37	2	171258002	171258002	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:171258002C>A	ENST00000408978.4	+	18	2073	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Missense_Mutation_p.L653M|MYO3B_ENST00000409044.3_Missense_Mutation_p.L644M	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	644	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.L644M(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGCCTCTGTTCTGTGCATTAG	0.517																																					p.L644M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1930A	2						.						81.0	80.0	81.0					2																	171258002		1972	4165	6137	170966248	SO:0001583	missense	140469	exon18				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1930C>A	2.37:g.171258002C>A	ENSP00000386213:p.Leu644Met		170966248	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791449	0.70452	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.87	5.87	0.94306	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94825	0.7990	10	0.52906	T	0.07	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	644;644;644	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	M	644;644;643;653;653	ENSP00000386497:L644M;ENSP00000386213:L644M;ENSP00000446237:L653M;ENSP00000335100:L653M	ENSP00000314213:L643M	L	+	1	2	MYO3B	170966248	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.788000	0.85771	2.785000	0.95823	0.655000	0.94253	CTG		0.517	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
MYO3B	140469	broad.mit.edu	37	2	171356178	171356178	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:171356178T>C	ENST00000408978.4	+	27	3292	c.3149T>C	c.(3148-3150)gTt>gCt	p.V1050A	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000334231.6_Missense_Mutation_p.V1059A|MYO3B_ENST00000409044.3_Missense_Mutation_p.V1050A	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1050	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TATTACCATGTTGAGCAATTA	0.413																																					p.V1050A												.	.	0			c.T3149C	2						.						85.0	79.0	81.0					2																	171356178		1870	4107	5977	171064424	SO:0001583	missense	140469	exon27				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3149T>C	2.37:g.171356178T>C	ENSP00000386213:p.Val1050Ala		171064424	NM_001171642	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393337	0.62066	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.78	5.78	0.91487	Myosin head, motor domain (1);	0.170111	0.51477	D	0.000092	T	0.69369	0.3103	L	0.46670	1.46	0.45046	D	0.998061	B;B;B	0.29508	0.246;0.014;0.196	B;B;B	0.35899	0.17;0.041;0.213	T	0.69749	-0.5061	10	0.62326	D	0.03	.	16.1261	0.81397	0.0:0.0:0.0:1.0	.	1050;1050;1050	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	A	1050;1050;1049;1059;1059	ENSP00000386497:V1050A;ENSP00000386213:V1050A;ENSP00000446237:V1059A;ENSP00000335100:V1059A	ENSP00000314213:V1049A	V	+	2	0	MYO3B	171064424	1.000000	0.71417	0.169000	0.22859	0.998000	0.95712	7.647000	0.83462	2.206000	0.71126	0.533000	0.62120	GTT		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
METTL8	79828	broad.mit.edu	37	2	172196014	172196014	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:172196014G>T	ENST00000375258.4	-	4	501	c.286C>A	c.(286-288)Cat>Aat	p.H96N		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	96						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)	p.H46N(1)|p.H96N(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						TTATTCTTATGAATCTTGTAA	0.313																																					p.H96N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C286A	2						.						50.0	50.0	50.0					2																	172196014		2202	4296	6498	171904260	SO:0001583	missense	79828	exon4			AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.286C>A	2.37:g.172196014G>T	ENSP00000364407:p.His96Asn		171904260	NM_024770	Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37		.	.	.	.	.	.	.	.	.	.	G	28.6	4.938559	0.92526	.	.	ENSG00000123600	ENST00000375258;ENST00000392599;ENST00000442778;ENST00000453846	T;T;T;T	0.45668	3.82;2.04;0.95;0.89	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	N	0.16233	0.39	0.58432	D	0.999999	D;B;D	0.89917	0.999;0.302;1.0	D;B;D	0.67548	0.92;0.173;0.952	T	0.22941	-1.0202	10	0.10377	T	0.69	-4.8651	20.33	0.98713	0.0:0.0:1.0:0.0	.	51;96;96	B4DLT0;B3KW44;Q9H825	.;.;METL8_HUMAN	N	96	ENSP00000364407:H96N;ENSP00000376377:H96N;ENSP00000404646:H96N;ENSP00000411589:H96N	ENSP00000364407:H96N	H	-	1	0	METTL8	171904260	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.389000	0.79806	2.810000	0.96702	0.585000	0.79938	CAT		0.313	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770	
SLC25A12	8604	broad.mit.edu	37	2	172693643	172693643	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:172693643C>A	ENST00000422440.2	-	6	637	c.600G>T	c.(598-600)gaG>gaT	p.E200D	SLC25A12_ENST00000392592.4_Missense_Mutation_p.E93D	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	200					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAACTAAGTTCTCCTCCACAA	0.393																																					p.E200D												.	.	0			c.G600T	2						.						140.0	121.0	128.0					2																	172693643		2203	4300	6503	172401889	SO:0001583	missense	8604	exon6			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.600G>T	2.37:g.172693643C>A	ENSP00000388658:p.Glu200Asp		172401889	NM_003705	B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672474	0.29693	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79141	-1.24;-1.21	6.08	1.83	0.25207	EF-hand-like domain (1);	0.100976	0.64402	D	0.000002	T	0.67353	0.2884	L	0.60904	1.88	0.44485	D	0.997428	B;B	0.14012	0.004;0.009	B;B	0.12837	0.008;0.008	T	0.54596	-0.8270	10	0.17832	T	0.49	-16.8727	6.5621	0.22491	0.0:0.3967:0.0:0.6033	.	93;200	B3KR64;O75746	.;CMC1_HUMAN	D	200;93	ENSP00000388658:E200D;ENSP00000376371:E93D	ENSP00000376371:E93D	E	-	3	2	SLC25A12	172401889	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.903000	0.28475	0.463000	0.27118	-0.140000	0.14226	GAG		0.393	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705	
RAPGEF4	11069	broad.mit.edu	37	2	173659805	173659805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:173659805G>T	ENST00000397081.3	+	2	261	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	RAPGEF4_ENST00000264111.6_Nonsense_Mutation_p.E40*|RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.E40*	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	40					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)	p.E40*(1)		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)			TCGACTGAAAGAAGTTAAAGC	0.373																																					p.E40X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G118T	2						.						157.0	152.0	154.0					2																	173659805		1823	4076	5899	173368051	SO:0001587	stop_gained	11069	exon2			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.118G>T	2.37:g.173659805G>T	ENSP00000380271:p.Glu40*		173368051	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Nonsense_Mutation	SNP	ENST00000397081.3	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187257	0.94923	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036	.	.	.	5.37	5.37	0.77165	.	0.251305	0.40385	N	0.001117	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.0952	0.93248	0.0:0.0:1.0:0.0	.	.	.	.	X	40	.	ENSP00000264111:E40X	E	+	1	0	RAPGEF4	173368051	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.097000	0.76967	2.508000	0.84585	0.650000	0.86243	GAA		0.373	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
RAPGEF4	11069	broad.mit.edu	37	2	173848281	173848281	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:173848281T>G	ENST00000397081.3	+	11	1205	c.1062T>G	c.(1060-1062)atT>atG	p.I354M	RAPGEF4_ENST00000264111.6_Missense_Mutation_p.I353M|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.I354M|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.I210M|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.I134M|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.I201M|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.I201M|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.I183M	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	354					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)	p.I354M(1)		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)			TTCTTCATATTAAAGCCTTAT	0.383																																					p.I354M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1062G	2						.						195.0	185.0	188.0					2																	173848281		1842	4102	5944	173556527	SO:0001583	missense	11069	exon11			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.1062T>G	2.37:g.173848281T>G	ENSP00000380271:p.Ile354Met		173556527	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714914	0.68844	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	D;D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	6.08	1.16	0.20824	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.88955	0.6578	M	0.69823	2.125	0.80722	D	1	D;D;P;B;D	0.89917	0.993;1.0;0.763;0.21;0.999	P;D;P;B;D	0.91635	0.862;0.995;0.492;0.142;0.999	D	0.85502	0.1192	10	0.87932	D	0	.	5.4397	0.16500	0.1158:0.2538:0.0:0.6304	.	181;183;210;354;354	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	M	353;354;354;210;183;201;201;181;134	ENSP00000264111:I353M;ENSP00000380271:I354M;ENSP00000387104:I354M;ENSP00000380276:I210M;ENSP00000440135:I183M;ENSP00000440250:I201M;ENSP00000437384:I201M;ENSP00000438011:I134M	ENSP00000264111:I353M	I	+	3	3	RAPGEF4	173556527	0.999000	0.42202	0.998000	0.56505	0.996000	0.88848	0.486000	0.22340	-0.021000	0.14009	0.482000	0.46254	ATT		0.383	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
RAPGEF4	11069	broad.mit.edu	37	2	173883386	173883386	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:173883386C>T	ENST00000397081.3	+	22	2154	c.2011C>T	c.(2011-2013)Ctg>Ttg	p.L671L	RAPGEF4_ENST00000264111.6_Silent_p.L670L|RAPGEF4_ENST00000409036.1_Silent_p.L671L|RAPGEF4_ENST00000397087.3_Silent_p.L527L|RAPGEF4_ENST00000535187.1_Silent_p.L451L|RAPGEF4_ENST00000540783.1_Silent_p.L518L|RAPGEF4_ENST00000539331.1_Silent_p.L518L|RAPGEF4_ENST00000538974.1_Silent_p.L500L	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	671					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)	p.L671L(1)		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)			TTGGATAGTTCTGTTTAAGGT	0.428																																					p.L671L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2011T	2						.						116.0	119.0	118.0					2																	173883386		1966	4164	6130	173591632	SO:0001819	synonymous_variant	11069	exon22			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.2011C>T	2.37:g.173883386C>T			173591632	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Silent	SNP	ENST00000397081.3	37	CCDS42775.1																																																																																				0.428	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
CIR1	9541	broad.mit.edu	37	2	175260282	175260282	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:175260282T>G	ENST00000342016.3	-	1	161	c.69A>C	c.(67-69)aaA>aaC	p.K23N	SCRN3_ENST00000409673.3_5'Flank|SCRN3_ENST00000272732.6_5'Flank|CIR1_ENST00000362053.5_Missense_Mutation_p.K23N	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	23	Interaction with RBPJ.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K23N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						TACTCACTTTTTTGATATTGG	0.507																																					p.K23N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A69C	2						.						128.0	132.0	130.0					2																	175260282		2203	4300	6503	174968528	SO:0001583	missense	9541	exon1			AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.69A>C	2.37:g.175260282T>G	ENSP00000339723:p.Lys23Asn		174968528	NM_004882	A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.910317	0.72983	.	.	ENSG00000138433	ENST00000342016	.	.	.	5.81	-2.97	0.05530	CBF1-interacting co-repressor CIR, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74943	0.3783	M	0.83483	2.645	0.46396	D	0.999024	D	0.63880	0.993	D	0.63113	0.911	T	0.79787	-0.1656	9	0.87932	D	0	.	14.5698	0.68203	0.0:0.5882:0.0:0.4118	.	23	Q86X95	CIR1_HUMAN	N	23	.	ENSP00000339723:K23N	K	-	3	2	CIR1	174968528	0.939000	0.31865	0.995000	0.50966	0.963000	0.63663	0.044000	0.13992	-0.252000	0.09528	0.445000	0.29226	AAA		0.507	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882	
CHN1	1123	broad.mit.edu	37	2	175665003	175665003	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:175665003G>A	ENST00000409900.3	-	13	1534	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	CHN1_ENST00000409156.3_Silent_p.H381H|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Silent_p.H223H|CHN1_ENST00000295497.7_Silent_p.H282H	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	407	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.H407H(1)|p.H407Q(1)|p.H282Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTCCTTTTCGTGGAGGGTCA	0.403			T	TAF15	extraskeletal myxoid chondrosarcoma																																p.H407H			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	lung(2)|large_intestine(1)	c.C1221T	2						.						111.0	103.0	106.0					2																	175665003		1888	4117	6005	175373249	SO:0001819	synonymous_variant	1123	exon13				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1221C>T	2.37:g.175665003G>A			175373249	NM_001822	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Silent	SNP	ENST00000409900.3	37	CCDS46455.1																																																																																				0.403	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822	
RAD51AP2	729475	broad.mit.edu	37	2	17697374	17697374	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:17697374C>T	ENST00000399080.2	-	1	2332	c.2309G>A	c.(2308-2310)gGa>gAa	p.G770E		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	770								p.G770E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTATTATGTCCCTGTTTTCT	0.338																																					p.G770E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2309A	2						.						104.0	97.0	99.0					2																	17697374		1855	4108	5963	17560855	SO:0001583	missense	729475	exon1			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2309G>A	2.37:g.17697374C>T	ENSP00000382030:p.Gly770Glu		17560855	NM_001099218		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.669275	0.00765	.	.	ENSG00000214842	ENST00000399080	T	0.20200	2.09	4.85	2.4	0.29515	.	.	.	.	.	T	0.07188	0.0182	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40213	-0.9575	9	0.10377	T	0.69	1.7564	2.7297	0.05224	0.1524:0.0869:0.1393:0.6214	.	770	Q09MP3	R51A2_HUMAN	E	770	ENSP00000382030:G770E	ENSP00000382030:G770E	G	-	2	0	RAD51AP2	17560855	0.001000	0.12720	0.002000	0.10522	0.024000	0.10985	0.678000	0.25277	0.385000	0.24970	-0.302000	0.09304	GGA		0.338	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
RAD51AP2	729475	broad.mit.edu	37	2	17698108	17698108	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:17698108T>G	ENST00000399080.2	-	1	1598	c.1575A>C	c.(1573-1575)aaA>aaC	p.K525N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	525								p.K525N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACTATTATCTTTTTTATTTC	0.244																																					p.K525N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1575C	2						.						17.0	16.0	16.0					2																	17698108		1743	3971	5714	17561589	SO:0001583	missense	729475	exon1			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1575A>C	2.37:g.17698108T>G	ENSP00000382030:p.Lys525Asn		17561589	NM_001099218		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457752	0.43634	.	.	ENSG00000214842	ENST00000399080	T	0.30448	1.53	4.41	1.96	0.26148	.	.	.	.	.	T	0.20577	0.0495	L	0.29908	0.895	0.09310	N	1	P	0.35242	0.492	B	0.33846	0.171	T	0.14924	-1.0455	9	0.66056	D	0.02	-2.3806	6.406	0.21664	0.1555:0.0:0.1623:0.6822	.	525	Q09MP3	R51A2_HUMAN	N	525	ENSP00000382030:K525N	ENSP00000382030:K525N	K	-	3	2	RAD51AP2	17561589	0.000000	0.05858	0.019000	0.16419	0.602000	0.36980	0.086000	0.14935	0.281000	0.22233	0.460000	0.39030	AAA		0.244	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
RAD51AP2	729475	broad.mit.edu	37	2	17699171	17699171	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:17699171C>A	ENST00000399080.2	-	1	535	c.512G>T	c.(511-513)aGa>aTa	p.R171I		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	171								p.R171I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTCTCATTTCTAATTCCATG	0.398																																					p.R171I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G512T	2						.						63.0	61.0	61.0					2																	17699171		1910	4127	6037	17562652	SO:0001583	missense	729475	exon1			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.512G>T	2.37:g.17699171C>A	ENSP00000382030:p.Arg171Ile		17562652	NM_001099218		Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724205	0.30593	.	.	ENSG00000214842	ENST00000399080	T	0.33216	1.42	3.6	-3.46	0.04767	.	.	.	.	.	T	0.13543	0.0328	N	0.14661	0.345	0.09310	N	1	B	0.33135	0.399	B	0.28709	0.093	T	0.17048	-1.0382	9	0.72032	D	0.01	-1.0832	4.4883	0.11801	0.0:0.327:0.3452:0.3278	.	171	Q09MP3	R51A2_HUMAN	I	171	ENSP00000382030:R171I	ENSP00000382030:R171I	R	-	2	0	RAD51AP2	17562652	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.444000	0.06854	-0.695000	0.05105	-0.302000	0.09304	AGA		0.398	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218	
CHN1	1123	broad.mit.edu	37	2	175779868	175779868	+	Missense_Mutation	SNP	C	C	T	rs557351535		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:175779868C>T	ENST00000409900.3	-	5	491	c.178G>A	c.(178-180)Gac>Aac	p.D60N	CHN1_ENST00000409156.3_Missense_Mutation_p.D60N|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	60	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.D60N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AAGAGCTGGTCGGCTGCTTCT	0.478			T	TAF15	extraskeletal myxoid chondrosarcoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		16323	0.0		0.0	False		,,,				2504	0.001				p.D60N			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G178A	2						.						41.0	41.0	41.0					2																	175779868		1909	4131	6040	175488114	SO:0001583	missense	1123	exon5				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.178G>A	2.37:g.175779868C>T	ENSP00000386741:p.Asp60Asn		175488114	NM_001822	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	36	5.715557	0.96830	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	D;D	0.88277	-2.36;-2.36	5.72	5.72	0.89469	SH2 motif (4);	0.086007	0.85682	D	0.000000	D	0.91294	0.7255	L	0.33792	1.035	0.80722	D	1	D;D	0.64830	0.989;0.994	P;D	0.68765	0.903;0.96	D	0.90131	0.4206	10	0.39692	T	0.17	.	18.8071	0.92041	0.0:1.0:0.0:0.0	.	60;60	B4DV19;P15882	.;CHIN_HUMAN	N	60	ENSP00000386741:D60N;ENSP00000386470:D60N	ENSP00000386470:D60N	D	-	1	0	CHN1	175488114	1.000000	0.71417	0.975000	0.42487	0.918000	0.54935	7.217000	0.77982	2.865000	0.98341	0.655000	0.94253	GAC		0.478	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822	
MTX2	10651	broad.mit.edu	37	2	177191555	177191555	+	Missense_Mutation	SNP	A	A	G	rs573100784|rs191499885	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:177191555A>G	ENST00000249442.6	+	5	422	c.211A>G	c.(211-213)Aaa>Gaa	p.K71E	MTX2_ENST00000443241.1_Missense_Mutation_p.K15E|MTX2_ENST00000392529.2_Missense_Mutation_p.K61E	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	71					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.K71E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			CTCAACAGGTAAAGTACCTTT	0.249													A|||	2	0.000399361	0.0	0.0029	5008	,	,		15069	0.0		0.0	False		,,,				2504	0.0				p.K71E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A211G	2						.						55.0	60.0	58.0					2																	177191555		2201	4279	6480	176899801	SO:0001583	missense	10651	exon5			AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.211A>G	2.37:g.177191555A>G	ENSP00000249442:p.Lys71Glu		176899801	NM_006554	A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Missense_Mutation	SNP	ENST00000249442.6	37	CCDS2272.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	18.49	3.635375	0.67130	.	.	ENSG00000128654	ENST00000249442;ENST00000392529;ENST00000443241;ENST00000452865	T;T;T;T	0.49720	2.37;2.37;0.77;2.37	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.52126	1.63	0.80722	D	1	P;D	0.67145	0.885;0.996	P;D	0.69654	0.665;0.965	T	0.61931	-0.6961	10	0.45353	T	0.12	-20.3251	15.1134	0.72380	1.0:0.0:0.0:0.0	.	71;61	O75431;Q8IZ68	MTX2_HUMAN;.	E	71;61;15;71	ENSP00000249442:K71E;ENSP00000376314:K61E;ENSP00000414176:K15E;ENSP00000398757:K71E	ENSP00000249442:K71E	K	+	1	0	MTX2	176899801	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.712000	0.91403	1.974000	0.57490	0.455000	0.32223	AAA		0.249	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255695.4	NM_006554	
NFE2L2	4780	broad.mit.edu	37	2	178095718	178095718	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:178095718T>G	ENST00000397062.3	-	5	2167	c.1613A>C	c.(1612-1614)aAa>aCa	p.K538T	NFE2L2_ENST00000446151.2_Missense_Mutation_p.K515T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.K522T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.K522T	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	538	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K538T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTTGAGCAATTTTTCTTTTTC	0.338			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																											p.K538T			Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1613C	2						.						170.0	149.0	155.0					2																	178095718		1825	4070	5895	177803964	SO:0001583	missense	4780	exon5				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1613A>C	2.37:g.178095718T>G	ENSP00000380252:p.Lys538Thr		177803964	NM_006164	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.467374	0.63625	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151	D;D;D	0.91686	-2.89;-2.89;-2.89	5.95	5.95	0.96441	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.044796	0.85682	D	0.000000	D	0.94542	0.8242	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.95007	0.8148	10	0.72032	D	0.01	-22.0144	16.4069	0.83677	0.0:0.0:0.0:1.0	.	515;538	E9PGJ7;Q16236	.;NF2L2_HUMAN	T	522;538;515	ENSP00000380253:K522T;ENSP00000380252:K538T;ENSP00000411575:K515T	ENSP00000380252:K538T	K	-	2	0	NFE2L2	177803964	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.154000	0.50693	2.272000	0.75746	0.460000	0.39030	AAA		0.338	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164	
TTC30B	150737	broad.mit.edu	37	2	178416678	178416678	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:178416678C>A	ENST00000408939.3	-	1	1064	c.814G>T	c.(814-816)Gaa>Taa	p.E272*		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	272					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.E272*(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GTGAGGGCTTCTTGAGCTGCC	0.517																																					p.E272X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G814T	2						.						128.0	133.0	131.0					2																	178416678		2203	4300	6503	178124924	SO:0001587	stop_gained	150737	exon1			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.814G>T	2.37:g.178416678C>A	ENSP00000386181:p.Glu272*		178124924	NM_152517	Q63HQ1|Q96NE6	Nonsense_Mutation	SNP	ENST00000408939.3	37	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	37	6.274516	0.97435	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.0752	0.89425	0.0:1.0:0.0:0.0	.	.	.	.	X	225;272	.	ENSP00000386181:E272X	E	-	1	0	TTC30B	178124924	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.228000	0.58619	2.575000	0.86900	0.655000	0.94253	GAA		0.517	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517	
TTC30B	150737	broad.mit.edu	37	2	178417054	178417054	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:178417054C>A	ENST00000408939.3	-	1	688	c.438G>T	c.(436-438)gaG>gaT	p.E146D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	146					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.E146D(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCCCACTTTCCTCTCCCCCTT	0.587																																					p.E146D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438T	2						.						190.0	210.0	203.0					2																	178417054		2203	4300	6503	178125300	SO:0001583	missense	150737	exon1			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.438G>T	2.37:g.178417054C>A	ENSP00000386181:p.Glu146Asp		178125300	NM_152517	Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	2.008	-0.427898	0.04701	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.79247	-1.25	4.51	-9.03	0.00737	.	0.399241	0.23924	N	0.043210	T	0.46034	0.1372	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24548	-1.0157	10	0.29301	T	0.29	.	6.7346	0.23403	0.1261:0.48:0.2829:0.111	.	146	Q8N4P2	TT30B_HUMAN	D	99;146	ENSP00000386181:E146D	ENSP00000386181:E146D	E	-	3	2	TTC30B	178125300	0.021000	0.18746	0.001000	0.08648	0.420000	0.31355	0.878000	0.28126	-2.218000	0.00730	-0.238000	0.12139	GAG		0.587	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517	
PDE11A	50940	broad.mit.edu	37	2	178528616	178528616	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:178528616C>T	ENST00000286063.6	-	19	2941	c.2624G>A	c.(2623-2625)aGc>aAc	p.S875N	PDE11A_ENST00000409504.1_Missense_Mutation_p.S517N|PDE11A_ENST00000389683.3_Missense_Mutation_p.S431N|PDE11A_ENST00000449286.2_Missense_Mutation_p.S517N|PDE11A_ENST00000358450.4_Missense_Mutation_p.S625N|PDE11A_ENST00000450799.2_Missense_Mutation_p.S66N	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	875	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.S875N(1)|p.S625N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CATGCAGATGCTATCAATCCA	0.448									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.S431N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1292A	2						.						121.0	103.0	109.0					2																	178528616		2203	4300	6503	178236862	SO:0001583	missense	50940	exon16	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2624G>A	2.37:g.178528616C>T	ENSP00000286063:p.Ser875Asn		178236862	NM_001077196	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932868	0.52866	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	6.07	6.07	0.98685	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.078860	0.85682	D	0.000000	T	0.60077	0.2241	N	0.08118	0	0.33734	D	0.618544	B;B	0.09022	0.001;0.002	B;B	0.09377	0.003;0.004	T	0.63107	-0.6711	10	0.30854	T	0.27	.	13.8057	0.63230	0.0:0.9305:0.0:0.0695	.	625;875	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	N	875;625;66;517;431;517	ENSP00000286063:S875N;ENSP00000351232:S625N;ENSP00000387964:S66N;ENSP00000386539:S517N;ENSP00000374333:S431N;ENSP00000390599:S517N	ENSP00000286063:S875N	S	-	2	0	PDE11A	178236862	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.863000	0.56016	2.885000	0.99019	0.655000	0.94253	AGC		0.448	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
PDE11A	50940	broad.mit.edu	37	2	178762794	178762794	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:178762794G>A	ENST00000286063.6	-	4	1610	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	PDE11A_ENST00000409504.1_Silent_p.I73I|PDE11A_ENST00000449286.2_Silent_p.I73I|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Silent_p.I181I	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	431	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.I431I(2)|p.I181I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CTGGTGATTCGATGTCCTCTA	0.348									Primary Pigmented Nodular Adrenocortical Disease, Familial																												p.I181I												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C543T	2						.						116.0	112.0	114.0					2																	178762794		2203	4300	6503	178471040	SO:0001819	synonymous_variant	50940	exon5	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1293C>T	2.37:g.178762794G>A			178471040	NM_001077197	Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	G	9.329	1.059928	0.19987	.	.	ENSG00000128655	ENST00000433879	.	.	.	5.89	0.569	0.17340	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49808	-0.8900	4	.	.	.	.	9.715	0.40270	0.7158:0.0:0.2842:0.0	.	.	.	.	L	70	.	.	S	-	2	0	PDE11A	178471040	0.922000	0.31269	0.995000	0.50966	0.966000	0.64601	0.180000	0.16860	-0.128000	0.11641	-0.302000	0.09304	TCG		0.348	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2		
TTN	7273	broad.mit.edu	37	2	179396035	179396035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179396035C>A	ENST00000591111.1	-	308	100608	c.100384G>T	c.(100384-100386)Gaa>Taa	p.E33462*	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E35103*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E26230*|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E26163*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E26038*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E32535*			Q8WZ42	TITIN_HUMAN	titin	33462					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E26163*(1)|p.E26230*(1)|p.E26038*(1)|p.E32533*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCATTTCTGCAGATGCA	0.428																																					p.Q26037H												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G78111T	2						.						113.0	117.0	116.0					2																	179396035		1877	4110	5987	179104281	SO:0001587	stop_gained	7273	exon186			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.100384G>T	2.37:g.179396035C>A	ENSP00000465570:p.Glu33462*		179104281	NM_003319	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	75	117.507589	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9877	0.92779	0.0:1.0:0.0:0.0	.	.	.	.	X	32535;26038;26230;26163;26035	.	ENSP00000340554:E26230X	E	-	1	0	TTN	179104281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.549000	0.67261	2.488000	0.83962	0.555000	0.69702	GAA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179399680	179399680	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179399680A>C	ENST00000591111.1	-	308	96963	c.96739T>G	c.(96739-96741)Tta>Gta	p.L32247V	TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L33888V|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25015V|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24948V|TTN_ENST00000460472.2_Missense_Mutation_p.L24823V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L31320V			Q8WZ42	TITIN_HUMAN	titin	32247	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L25015V(1)|p.L24948V(1)|p.L24823V(1)|p.L31318V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCATAACTAATTCTTCCATG	0.328																																					p.N24822K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T74466G	2						.						68.0	65.0	66.0					2																	179399680		1847	4091	5938	179107926	SO:0001583	missense	7273	exon186			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.96739T>G	2.37:g.179399680A>C	ENSP00000465570:p.Leu32247Val		179107926	NM_003319	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		.	.	.	.	.	.	.	.	.	.	A	11.48	1.652741	0.29336	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.82	2.0	0.26442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.56202	0.1969	L	0.39467	1.215	0.39110	D	0.961463	B;B;B;B	0.24823	0.059;0.059;0.059;0.112	B;B;B;B	0.27796	0.026;0.026;0.026;0.083	T	0.56275	-0.8006	9	0.87932	D	0	.	9.3155	0.37932	0.7332:0.0:0.2668:0.0	.	24823;24948;25015;32247	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	31320;24823;25015;24948;24820	ENSP00000343764:L31320V;ENSP00000434586:L24823V;ENSP00000340554:L25015V;ENSP00000352154:L24948V	ENSP00000340554:L25015V	L	-	1	2	TTN	179107926	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.631000	0.24568	0.437000	0.26423	0.455000	0.32223	TTA		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179421826	179421826	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179421826A>G	ENST00000591111.1	-	280	83356	c.83132T>C	c.(83131-83133)gTc>gCc	p.V27711A	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V29352A|TTN_ENST00000342175.6_Missense_Mutation_p.V20479A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20412A|TTN_ENST00000460472.2_Missense_Mutation_p.V20287A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26784A			Q8WZ42	TITIN_HUMAN	titin	27711	Fibronectin type-III 102. {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)	p.V20287A(1)|p.V26782A(1)|p.V20412A(1)|p.V20479A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAAGGCTGACAGAGTTCTT	0.443																																					p.S20287P												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T60859C	2						.						62.0	58.0	59.0					2																	179421826		1901	4129	6030	179130072	SO:0001583	missense	7273	exon158			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.83132T>C	2.37:g.179421826A>G	ENSP00000465570:p.Val27711Ala		179130072	NM_003319	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		.	.	.	.	.	.	.	.	.	.	A	15.52	2.856974	0.51376	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.81	4.65	0.58169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46288	0.1385	M	0.64404	1.975	0.46521	D	0.999086	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.44081	-0.9351	9	0.87932	D	0	.	12.2604	0.54647	0.9333:0.0:0.0667:0.0	.	20287;20412;20479;27711	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	26784;20287;20479;20412;20284	ENSP00000343764:V26784A;ENSP00000434586:V20287A;ENSP00000340554:V20479A;ENSP00000352154:V20412A	ENSP00000340554:V20479A	V	-	2	0	TTN	179130072	1.000000	0.71417	0.996000	0.52242	0.877000	0.50540	7.529000	0.81952	1.119000	0.41883	0.533000	0.62120	GTC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179426261	179426261	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179426261G>A	ENST00000591111.1	-	276	79899	c.79675C>T	c.(79675-79677)Ctt>Ttt	p.L26559F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L28200F|TTN_ENST00000342175.6_Missense_Mutation_p.L19327F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L19260F|TTN_ENST00000460472.2_Missense_Mutation_p.L19135F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L25632F			Q8WZ42	TITIN_HUMAN	titin	26559	Fibronectin type-III 93. {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)	p.L19135F(1)|p.L19260F(1)|p.L19327F(1)|p.L25630F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGACCAAAGAATGCTGCTT	0.388																																					p.F19134F												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C57402T	2						.						82.0	77.0	79.0					2																	179426261		1884	4104	5988	179134507	SO:0001583	missense	7273	exon154			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.79675C>T	2.37:g.179426261G>A	ENSP00000465570:p.Leu26559Phe		179134507	NM_003319	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		.	.	.	.	.	.	.	.	.	.	G	12.34	1.909963	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.01	6.01	0.97437	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75845	0.3905	M	0.80982	2.52	0.53688	D	0.999972	D;D;D;D	0.76494	0.999;0.999;0.999;0.998	D;D;D;D	0.70487	0.969;0.969;0.969;0.955	T	0.77164	-0.2688	9	0.87932	D	0	.	20.5073	0.99209	0.0:0.0:1.0:0.0	.	19135;19260;19327;26559	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	25632;19135;19327;19260;19133	ENSP00000343764:L25632F;ENSP00000434586:L19135F;ENSP00000340554:L19327F;ENSP00000352154:L19260F	ENSP00000340554:L19327F	L	-	1	0	TTN	179134507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.778000	0.68940	2.855000	0.98099	0.585000	0.79938	CTT		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179427833	179427833	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179427833C>A	ENST00000591111.1	-	276	78327	c.78103G>T	c.(78103-78105)Gaa>Taa	p.E26035*	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E27676*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E18803*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E18736*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E18611*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E25108*			Q8WZ42	TITIN_HUMAN	titin	26035	Ig-like 126.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E18736*(1)|p.E25106*(1)|p.E18803*(1)|p.E18611*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCGAGTTCTATTTCTGGT	0.463																																					p.X18610Y												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.G55830T	2						.						175.0	172.0	173.0					2																	179427833		1952	4150	6102	179136079	SO:0001587	stop_gained	7273	exon154			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.78103G>T	2.37:g.179427833C>A	ENSP00000465570:p.Glu26035*		179136079	NM_003319	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	65	87.191505	0.99996	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9085	0.97016	0.0:1.0:0.0:0.0	.	.	.	.	X	25108;18611;18803;18736;18609	.	ENSP00000340554:E18803X	E	-	1	0	TTN	179136079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.723000	0.93209	0.561000	0.74099	GAA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179437171	179437171	+	Missense_Mutation	SNP	C	C	A	rs560347347		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179437171C>A	ENST00000591111.1	-	276	68989	c.68765G>T	c.(68764-68766)aGa>aTa	p.R22922I	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24563I|TTN_ENST00000342175.6_Missense_Mutation_p.R15690I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15623I|TTN_ENST00000460472.2_Missense_Mutation_p.R15498I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21995I			Q8WZ42	TITIN_HUMAN	titin	22922	Fibronectin type-III 66. {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)	p.R15623I(1)|p.R15498I(1)|p.R21993I(1)|p.R15690I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGCTTTTCTTGTTGATTC	0.438																																					p.E15498X												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G46492T	2						.						95.0	88.0	91.0					2																	179437171		1890	4110	6000	179145417	SO:0001583	missense	7273	exon154			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.68765G>T	2.37:g.179437171C>A	ENSP00000465570:p.Arg22922Ile		179145417	NM_003319	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	14.96	2.692105	0.48202	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.07	6.07	0.98685	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75317	0.3833	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.58970	0.974;0.974;0.974;0.984	P;P;P;P	0.55303	0.773;0.773;0.773;0.773	T	0.79614	-0.1730	9	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	15498;15623;15690;22922	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	21995;15498;15690;15623;15496	ENSP00000343764:R21995I;ENSP00000434586:R15498I;ENSP00000340554:R15690I;ENSP00000352154:R15623I	ENSP00000340554:R15690I	R	-	2	0	TTN	179145417	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.093000	0.71422	2.890000	0.99128	0.650000	0.86243	AGA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179437667	179437667	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179437667G>A	ENST00000591111.1	-	276	68493	c.68269C>T	c.(68269-68271)Cgc>Tgc	p.R22757C	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24398C|TTN_ENST00000342175.6_Missense_Mutation_p.R15525C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15458C|TTN_ENST00000460472.2_Missense_Mutation_p.R15333C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21830C			Q8WZ42	TITIN_HUMAN	titin	22757	Fibronectin type-III 65. {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)	p.R15525C(1)|p.R15333C(1)|p.R15458C(1)|p.R21828C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATAGATGCGGATCTTATAT	0.488																																					p.S15332S												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C45996T	2						.						82.0	84.0	83.0					2																	179437667		1979	4148	6127	179145913	SO:0001583	missense	7273	exon154			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.68269C>T	2.37:g.179437667G>A	ENSP00000465570:p.Arg22757Cys		179145913	NM_003319	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		.	.	.	.	.	.	.	.	.	.	G	9.776	1.173987	0.21704	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.91	5.91	0.95273	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82926	0.5143	H	0.98936	4.375	0.43080	D	0.994733	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.57846	0.828;0.828;0.828;0.828	D	0.89173	0.3538	9	0.87932	D	0	.	13.6865	0.62520	0.0:0.0:0.7305:0.2695	.	15333;15458;15525;22757	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	21830;15333;15525;15458;15331	ENSP00000343764:R21830C;ENSP00000434586:R15333C;ENSP00000340554:R15525C;ENSP00000352154:R15458C	ENSP00000340554:R15525C	R	-	1	0	TTN	179145913	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.973000	0.63763	2.813000	0.96785	0.655000	0.94253	CGC		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179440341	179440341	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179440341G>T	ENST00000591111.1	-	276	65819	c.65595C>A	c.(65593-65595)ttC>ttA	p.F21865L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F23506L|TTN_ENST00000342175.6_Missense_Mutation_p.F14633L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F14566L|TTN_ENST00000460472.2_Missense_Mutation_p.F14441L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F20938L			Q8WZ42	TITIN_HUMAN	titin	21865	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)	p.F20936L(1)|p.F14441L(1)|p.F14633L(1)|p.F14566L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTCTGAAGAAATATTCAC	0.443																																					p.S14441Y												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C43322A	2						.						140.0	135.0	136.0					2																	179440341		1924	4131	6055	179148587	SO:0001583	missense	7273	exon154			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.65595C>A	2.37:g.179440341G>T	ENSP00000465570:p.Phe21865Leu		179148587	NM_003319	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		.	.	.	.	.	.	.	.	.	.	G	11.03	1.518763	0.27211	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.6	0.166	0.14999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40862	0.1134	L	0.37697	1.125	0.36654	D	0.877552	B;B;B;B	0.09022	0.002;0.002;0.002;0.001	B;B;B;B	0.14578	0.011;0.011;0.011;0.007	T	0.38457	-0.9660	9	0.87932	D	0	.	10.3764	0.44085	0.4856:0.0:0.5144:0.0	.	14441;14566;14633;21865	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	20938;14441;14633;14566;14439	ENSP00000343764:F20938L;ENSP00000434586:F14441L;ENSP00000340554:F14633L;ENSP00000352154:F14566L	ENSP00000340554:F14633L	F	-	3	2	TTN	179148587	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	1.844000	0.39269	-0.039000	0.13602	0.585000	0.79938	TTC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179440663	179440663	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179440663A>C	ENST00000591111.1	-	276	65497	c.65273T>G	c.(65272-65274)cTt>cGt	p.L21758R	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L23399R|TTN_ENST00000342175.6_Missense_Mutation_p.L14526R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L14459R|TTN_ENST00000460472.2_Missense_Mutation_p.L14334R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L20831R			Q8WZ42	TITIN_HUMAN	titin	21758	Ig-like 114.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L14334R(1)|p.L14459R(1)|p.L14526R(1)|p.L20829R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATAATCAGAAGAGTAAATGA	0.418																																					p.F14334V												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.T43000G	2						.						134.0	142.0	139.0					2																	179440663		1913	4128	6041	179148909	SO:0001583	missense	7273	exon154			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.65273T>G	2.37:g.179440663A>C	ENSP00000465570:p.Leu21758Arg		179148909	NM_003319	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		.	.	.	.	.	.	.	.	.	.	A	12.37	1.917586	0.33815	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70815	0.3267	L	0.33293	1	0.58432	D	0.999995	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.75484	0.974;0.974;0.974;0.986	T	0.74475	-0.3653	9	0.87932	D	0	.	15.6226	0.76820	1.0:0.0:0.0:0.0	.	14334;14459;14526;21758	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	20831;14334;14526;14459;14332	ENSP00000343764:L20831R;ENSP00000434586:L14334R;ENSP00000340554:L14526R;ENSP00000352154:L14459R	ENSP00000340554:L14526R	L	-	2	0	TTN	179148909	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.339000	0.96797	2.104000	0.64026	0.533000	0.62120	CTT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179444346	179444346	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179444346C>A	ENST00000591111.1	-	269	62879	c.62655G>T	c.(62653-62655)gaG>gaT	p.E20885D	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E22526D|TTN_ENST00000342175.6_Missense_Mutation_p.E13653D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13586D|TTN_ENST00000460472.2_Missense_Mutation_p.E13461D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19958D			Q8WZ42	TITIN_HUMAN	titin	20885	Fibronectin type-III 51. {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)	p.E13653D(1)|p.E13586D(1)|p.E19956D(1)|p.E13461D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTTCATTCTCAGCACTCA	0.403																																					p.R13461I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G40382T	2						.						172.0	162.0	165.0					2																	179444346		1921	4130	6051	179152592	SO:0001583	missense	7273	exon147			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.62655G>T	2.37:g.179444346C>A	ENSP00000465570:p.Glu20885Asp		179152592	NM_003319	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	11.16	1.556033	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.78	3.04	0.35103	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50017	0.1591	M	0.64630	1.985	0.31713	N	0.639284	B;B;B;B	0.33777	0.425;0.425;0.425;0.425	B;B;B;B	0.34418	0.182;0.182;0.182;0.182	T	0.58092	-0.7697	9	0.87932	D	0	.	10.5068	0.44839	0.0:0.6813:0.0:0.3187	.	13461;13586;13653;20885	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	19958;13461;13653;13586;13459	ENSP00000343764:E19958D;ENSP00000434586:E13461D;ENSP00000340554:E13653D;ENSP00000352154:E13586D	ENSP00000340554:E13653D	E	-	3	2	TTN	179152592	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.239000	0.18023	0.466000	0.27193	0.655000	0.94253	GAG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179458734	179458734	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179458734C>A	ENST00000591111.1	-	247	53687	c.53463G>T	c.(53461-53463)gaG>gaT	p.E17821D	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E19462D|TTN_ENST00000342175.6_Missense_Mutation_p.E10589D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10522D|TTN_ENST00000460472.2_Missense_Mutation_p.E10397D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16894D			Q8WZ42	TITIN_HUMAN	titin	17821	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E16892D(1)|p.E10397D(1)|p.E10589D(1)|p.E10522D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTACTGTTCTCCACAACCA	0.388																																					p.R10397I												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G31190T	2						.						186.0	183.0	184.0					2																	179458734		1994	4173	6167	179166980	SO:0001583	missense	7273	exon125			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.53463G>T	2.37:g.179458734C>A	ENSP00000465570:p.Glu17821Asp		179166980	NM_003319	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	13.07	2.126112	0.37533	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	6.17	3.44	0.39384	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78811	0.4342	M	0.75777	2.31	0.45777	D	0.998661	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.994;0.994;0.994	T	0.79718	-0.1686	9	0.87932	D	0	.	10.1174	0.42598	0.0:0.7389:0.0:0.2611	.	10397;10522;10589;17821	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	16894;10397;10589;10522;10395	ENSP00000343764:E16894D;ENSP00000434586:E10397D;ENSP00000340554:E10589D;ENSP00000352154:E10522D	ENSP00000340554:E10589D	E	-	3	2	TTN	179166980	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	0.844000	0.27654	0.948000	0.37687	0.655000	0.94253	GAG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179473058	179473058	+	Missense_Mutation	SNP	G	G	A	rs200974180		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179473058G>A	ENST00000591111.1	-	225	47853	c.47629C>T	c.(47629-47631)Cgt>Tgt	p.R15877C	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R17518C|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8645C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8578C|TTN_ENST00000460472.2_Missense_Mutation_p.R8453C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14950C			Q8WZ42	TITIN_HUMAN	titin	15877	Fibronectin type-III 15. {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)	p.R8578C(1)|p.R14950C(1)|p.R8453C(1)|p.R8645C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTTGACACGAGACCAATGT	0.413																																					p.R8453C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C25357T	2						.						87.0	76.0	79.0					2																	179473058		1901	4133	6034	179181303	SO:0001583	missense	7273	exon103			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.47629C>T	2.37:g.179473058G>A	ENSP00000465570:p.Arg15877Cys		179181303	NM_003319	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		.	.	.	.	.	.	.	.	.	.	G	12.30	1.896541	0.33442	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78201	0.4246	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.81221	-0.1031	9	0.87932	D	0	.	19.8731	0.96858	0.0:0.0:1.0:0.0	.	8453;8578;8645;15877	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	14950;8453;8645;8578;8453	ENSP00000343764:R14950C;ENSP00000434586:R8453C;ENSP00000340554:R8645C;ENSP00000352154:R8578C	ENSP00000340554:R8645C	R	-	1	0	TTN	179181303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.179000	0.65043	2.699000	0.92147	0.563000	0.77884	CGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179476557	179476557	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179476557G>A	ENST00000591111.1	-	218	45780	c.45556C>T	c.(45556-45558)Cgg>Tgg	p.R15186W	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16827W|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7954W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7887W|TTN_ENST00000460472.2_Missense_Mutation_p.R7762W|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14259W			Q8WZ42	TITIN_HUMAN	titin	15186	Fibronectin type-III 10. {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)	p.R7762W(1)|p.R7954W(1)|p.R14259W(1)|p.R7887W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCAGCCCGAACCTGAAAC	0.458																																					p.R7762W												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C23284T	2						.						130.0	124.0	126.0					2																	179476557		1922	4140	6062	179184802	SO:0001583	missense	7273	exon96			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.45556C>T	2.37:g.179476557G>A	ENSP00000465570:p.Arg15186Trp		179184802	NM_003319	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		.	.	.	.	.	.	.	.	.	.	G	8.954	0.968839	0.18659	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.97	3.08	0.35506	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72285	0.3441	M	0.78801	2.425	0.43988	D	0.996681	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69654	0.965;0.965;0.965;0.965	T	0.73924	-0.3829	9	0.87932	D	0	.	10.0401	0.42153	0.0646:0.0:0.6758:0.2596	.	7762;7887;7954;15186	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	14259;7762;7954;7887;7762	ENSP00000343764:R14259W;ENSP00000434586:R7762W;ENSP00000340554:R7954W;ENSP00000352154:R7887W	ENSP00000340554:R7954W	R	-	1	2	TTN	179184802	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	2.635000	0.46537	0.784000	0.33661	-0.188000	0.12872	CGG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179485269	179485269	+	Missense_Mutation	SNP	G	G	A	rs367774903		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179485269G>A	ENST00000591111.1	-	198	41280	c.41056C>T	c.(41056-41058)Cgt>Tgt	p.R13686C	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15327C|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6454C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6387C|TTN_ENST00000460472.2_Missense_Mutation_p.R6262C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12759C			Q8WZ42	TITIN_HUMAN	titin	13686	Ig-like 93.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R6454C(1)|p.R6387C(1)|p.R6262C(1)|p.R12759C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATTGAGACGATTCACCTTG	0.393																																					p.R6262C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C18784T	2						.	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3838		0,0,1919	117.0	110.0	112.0		18784,38275,19159,19360	5.9	1.0	2		112	3,8239		0,3,4118	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	180,180,180,180	0,3,6037	AA,AG,GG		0.0364,0.0,0.0248	probably-damaging,probably-damaging,probably-damaging,probably-damaging	6262/26927,12759/33424,6387/27052,6454/27119	179485269	3,12077	1919	4121	6040	179193514	SO:0001583	missense	7273	exon76			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.41056C>T	2.37:g.179485269G>A	ENSP00000465570:p.Arg13686Cys		179193514	NM_003319	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		.	.	.	.	.	.	.	.	.	.	G	12.36	1.915722	0.33815	0.0	3.64E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83348	0.5235	M	0.78049	2.395	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.98;0.98;0.98;0.989	D	0.84162	0.0429	9	0.87932	D	0	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	6262;6387;6454;13686	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	12759;6262;6454;6387;6262	ENSP00000343764:R12759C;ENSP00000434586:R6262C;ENSP00000340554:R6454C;ENSP00000352154:R6387C	ENSP00000340554:R6454C	R	-	1	0	TTN	179193514	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.144000	0.64832	2.793000	0.96121	0.563000	0.77884	CGT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179495591	179495591	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179495591G>T	ENST00000591111.1	-	188	39395	c.39171C>A	c.(39169-39171)atC>atA	p.I13057I	TTN_ENST00000589042.1_Silent_p.I14698I|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.I5825I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.I5758I|TTN_ENST00000460472.2_Silent_p.I5633I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.I12130I			Q8WZ42	TITIN_HUMAN	titin	13057					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I12130M(2)|p.I5758M(1)|p.I5825M(1)|p.I5633M(1)|p.I5825I(1)|p.I5633I(1)|p.I12130I(1)|p.I5758I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTCAGAGATTTCGGTTT	0.493																																					p.I5633I												.	.	9	Substitution - Missense(5)|Substitution - coding silent(4)	lung(5)|large_intestine(4)	c.C16899A	2						.						138.0	134.0	136.0					2																	179495591		1930	4144	6074	179203836	SO:0001819	synonymous_variant	7273	exon66			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.39171C>A	2.37:g.179495591G>T			179203836	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179499208	179499208	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179499208G>T	ENST00000591111.1	-	180	37601	c.37377C>A	c.(37375-37377)atC>atA	p.I12459I	TTN_ENST00000589042.1_Silent_p.I14100I|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.I5227I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.I5160I|TTN_ENST00000460472.2_Silent_p.I5035I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.I11532I			Q8WZ42	TITIN_HUMAN	titin	12459					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I5160I(1)|p.I5035I(1)|p.I11532I(1)|p.I5227I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAGCGATGATATCAAATT	0.413																																					p.I5035I												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C15105A	2						.						85.0	86.0	86.0					2																	179499208		1864	4111	5975	179207453	SO:0001819	synonymous_variant	7273	exon58			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.37377C>A	2.37:g.179499208G>T			179207453	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179499351	179499351	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179499351C>T	ENST00000591111.1	-	180	37458	c.37234G>A	c.(37234-37236)Gaa>Aaa	p.E12412K	TTN_ENST00000589042.1_Missense_Mutation_p.E14053K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5180K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5113K|TTN_ENST00000460472.2_Missense_Mutation_p.E4988K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11485K			Q8WZ42	TITIN_HUMAN	titin	12412					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E5180K(1)|p.E11485K(1)|p.E5113K(1)|p.E4988K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCAAGTTCGATTTCTGAA	0.453																																					p.E4988K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G14962A	2						.						112.0	114.0	113.0					2																	179499351		1895	4125	6020	179207596	SO:0001583	missense	7273	exon58			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.37234G>A	2.37:g.179499351C>T	ENSP00000465570:p.Glu12412Lys		179207596	NM_003319	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	17.66	3.444027	0.63067	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.02;-0.03;-0.05	6.16	6.16	0.99307	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77025	0.4070	L	0.57536	1.79	0.51233	D	0.999918	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	P;P;P;P	0.55222	0.566;0.566;0.566;0.771	T	0.77264	-0.2652	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	4988;5113;5180;12412	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11485;4988;5180;5113;4988	ENSP00000343764:E11485K;ENSP00000434586:E4988K;ENSP00000340554:E5180K;ENSP00000352154:E5113K	ENSP00000340554:E5180K	E	-	1	0	TTN	179207596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.921000	0.70028	2.937000	0.99478	0.650000	0.86243	GAA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179569256	179569256	+	Silent	SNP	G	G	A	rs543490348		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179569256G>A	ENST00000591111.1	-	103	29216	c.28992C>T	c.(28990-28992)agC>agT	p.S9664S	TTN_ENST00000589042.1_Silent_p.S9981S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.S8737S			Q8WZ42	TITIN_HUMAN	titin	13740	Ig-like 78.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S8737S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTTTAGCGCTAGCGATGT	0.373													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21289	0.0		0.0	False		,,,				2504	0.0				p.S8737S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C26211T	2						.						91.0	84.0	87.0					2																	179569256		1890	4110	6000	179277501	SO:0001819	synonymous_variant	7273	exon102			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.28992C>T	2.37:g.179569256G>A			179277501	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179571457	179571457	+	Missense_Mutation	SNP	G	G	A	rs533172128		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179571457G>A	ENST00000591111.1	-	100	28417	c.28193C>T	c.(28192-28194)gCg>gTg	p.A9398V	TTN_ENST00000589042.1_Missense_Mutation_p.A9715V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8471V			Q8WZ42	TITIN_HUMAN	titin	13496	Ig-like 77.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A8471V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGAAGGTCGCAGTGGTTTC	0.348																																					p.A8471V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C25412T	2						.						97.0	90.0	92.0					2																	179571457		1826	4072	5898	179279702	SO:0001583	missense	7273	exon99			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.28193C>T	2.37:g.179571457G>A	ENSP00000465570:p.Ala9398Val		179279702	NM_133378	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		.	.	.	.	.	.	.	.	.	.	G	15.59	2.878265	0.51801	.	.	ENSG00000155657	ENST00000342992	T	0.38077	1.16	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38665	0.1049	N	0.26130	0.795	0.80722	D	1	D	0.56746	0.977	P	0.47915	0.561	T	0.16482	-1.0401	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	9398	Q8WZ42	TITIN_HUMAN	V	8471	ENSP00000343764:A8471V	ENSP00000343764:A8471V	A	-	2	0	TTN	179279702	1.000000	0.71417	0.985000	0.45067	0.641000	0.38312	8.062000	0.89475	2.937000	0.99478	0.650000	0.86243	GCG		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179575601	179575601	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179575601G>A	ENST00000591111.1	-	96	27496	c.27272C>T	c.(27271-27273)gCt>gTt	p.A9091V	TTN_ENST00000589042.1_Missense_Mutation_p.A9408V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8164V			Q8WZ42	TITIN_HUMAN	titin	13223	Ig-like 74.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A8164V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCACCACAGCATCCACAGG	0.517																																					p.A8164V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C24491T	2						.						92.0	89.0	90.0					2																	179575601		2001	4165	6166	179283846	SO:0001583	missense	7273	exon95			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.27272C>T	2.37:g.179575601G>A	ENSP00000465570:p.Ala9091Val		179283846	NM_133378	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		.	.	.	.	.	.	.	.	.	.	G	14.28	2.487294	0.44249	.	.	ENSG00000155657	ENST00000342992	T	0.62788	-0.0	6.06	4.24	0.50183	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35653	0.0939	N	0.02751	-0.505	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.25950	-1.0117	9	0.87932	D	0	.	7.2784	0.26297	0.2053:0.1317:0.663:0.0	.	9091	Q8WZ42	TITIN_HUMAN	V	8164	ENSP00000343764:A8164V	ENSP00000343764:A8164V	A	-	2	0	TTN	179283846	0.982000	0.34865	0.997000	0.53966	0.980000	0.70556	2.270000	0.43355	1.565000	0.49641	0.655000	0.94253	GCT		0.517	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179579025	179579025	+	Missense_Mutation	SNP	C	C	T	rs200116046		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179579025C>T	ENST00000591111.1	-	89	25749	c.25525G>A	c.(25525-25527)Gtt>Att	p.V8509I	TTN_ENST00000589042.1_Missense_Mutation_p.V8826I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V7582I			Q8WZ42	TITIN_HUMAN	titin	12673					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V7582I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACCGAGAACGGATAGCGTG	0.393																																					p.V7582I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G22744A	2						.	C	,,,ILE/VAL	0,3838		0,0,1919	131.0	127.0	128.0		,,,22744	-1.8	0.0	2		128	1,8259		0,1,4129	yes	intron,intron,intron,missense	TTN	NM_003319.4,NM_133432.3,NM_133437.3,NM_133378.4	,,,29	0,1,6048	TT,TC,CC		0.0121,0.0,0.0083	,,,benign	,,,7582/33424	179579025	1,12097	1919	4130	6049	179287270	SO:0001583	missense	7273	exon88			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.25525G>A	2.37:g.179579025C>T	ENSP00000465570:p.Val8509Ile		179287270	NM_133378	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	6.224	0.409421	0.11812	0.0	1.21E-4	ENSG00000155657	ENST00000342992	T	0.74209	-0.82	5.96	-1.8	0.07907	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70996	0.3288	M	0.72479	2.2	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.64927	-0.6292	9	0.87932	D	0	.	13.7985	0.63186	0.0:0.6647:0.0:0.3353	.	8509	Q8WZ42	TITIN_HUMAN	I	7582	ENSP00000343764:V7582I	ENSP00000343764:V7582I	V	-	1	0	TTN	179287270	0.540000	0.26410	0.000000	0.03702	0.012000	0.07955	1.228000	0.32588	-0.429000	0.07329	-1.004000	0.02495	GTT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179579173	179579173	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179579173G>A	ENST00000591111.1	-	89	25601	c.25377C>T	c.(25375-25377)atC>atT	p.I8459I	TTN_ENST00000589042.1_Silent_p.I8776I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.I7532I			Q8WZ42	TITIN_HUMAN	titin	12628	Ig-like 67.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I7532I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTCTAACGATTTCTCCCT	0.408																																					p.I7532I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C22596T	2						.						80.0	74.0	76.0					2																	179579173		1862	4083	5945	179287418	SO:0001819	synonymous_variant	7273	exon88			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.25377C>T	2.37:g.179579173G>A			179287418	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179587898	179587898	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179587898A>G	ENST00000591111.1	-	73	21109	c.20885T>C	c.(20884-20886)gTc>gCc	p.V6962A	TTN_ENST00000589042.1_Missense_Mutation_p.V7279A|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V6035A			Q8WZ42	TITIN_HUMAN	titin	12549	Ig-like 51.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V6035A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGTTGTGACTATGTTACA	0.393																																					p.V6035A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T18104C	2						.						123.0	113.0	116.0					2																	179587898		1839	4092	5931	179296143	SO:0001583	missense	7273	exon72			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.20885T>C	2.37:g.179587898A>G	ENSP00000465570:p.Val6962Ala		179296143	NM_133378	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		.	.	.	.	.	.	.	.	.	.	A	10.05	1.245461	0.22796	.	.	ENSG00000155657	ENST00000342992	T	0.66099	-0.19	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50137	0.1598	L	0.31845	0.965	0.80722	D	1	B	0.23735	0.09	B	0.28385	0.089	T	0.53443	-0.8438	9	0.87932	D	0	.	6.4083	0.21676	0.8111:0.0:0.1889:0.0	.	6962	Q8WZ42	TITIN_HUMAN	A	6035	ENSP00000343764:V6035A	ENSP00000343764:V6035A	V	-	2	0	TTN	179296143	1.000000	0.71417	0.916000	0.36221	0.961000	0.63080	2.141000	0.42168	2.323000	0.78572	0.528000	0.53228	GTC		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179595352	179595352	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179595352G>A	ENST00000591111.1	-	59	17181	c.16957C>T	c.(16957-16959)Cat>Tat	p.H5653Y	TTN_ENST00000589042.1_Missense_Mutation_p.H5970Y|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H4726Y			Q8WZ42	TITIN_HUMAN	titin	12462	Ig-like 37.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H4726Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTGTCATGAAAAGAGAAT	0.428																																					p.H4726Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14176T	2						.						116.0	112.0	114.0					2																	179595352		1883	4123	6006	179303597	SO:0001583	missense	7273	exon58			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.16957C>T	2.37:g.179595352G>A	ENSP00000465570:p.His5653Tyr		179303597	NM_133378	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		.	.	.	.	.	.	.	.	.	.	G	9.250	1.040462	0.19669	.	.	ENSG00000155657	ENST00000342992	T	0.66995	-0.24	5.99	5.11	0.69529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62925	0.2468	L	0.49256	1.55	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.61510	-0.7048	9	0.87932	D	0	.	15.3396	0.74284	0.0667:0.0:0.9333:0.0	.	5653	Q8WZ42	TITIN_HUMAN	Y	4726	ENSP00000343764:H4726Y	ENSP00000343764:H4726Y	H	-	1	0	TTN	179303597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.537000	0.60643	1.538000	0.49270	0.655000	0.94253	CAT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179598244	179598244	+	Splice_Site	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179598244T>G	ENST00000591111.1	-	52	15049	c.14825A>C	c.(14824-14826)gAa>gCa	p.E4942A	TTN_ENST00000589042.1_Splice_Site_p.E5259A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.E4015A			Q8WZ42	TITIN_HUMAN	titin	12325					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E4015A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGCAGGTTCTACAATGGT	0.443																																					p.E4015A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12044C	2						.						212.0	214.0	213.0					2																	179598244		1928	4131	6059	179306489	SO:0001630	splice_region_variant	7273	exon51			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.14825-1A>C	2.37:g.179598244T>G			179306489	NM_133378	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		.	.	.	.	.	.	.	.	.	.	T	14.22	2.471518	0.43942	.	.	ENSG00000155657	ENST00000342992	T	0.44482	0.92	5.86	5.86	0.93980	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61085	0.2319	L	0.55103	1.725	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.63510	-0.6621	9	0.87932	D	0	.	16.254	0.82501	0.0:0.0:0.0:1.0	.	4942	Q8WZ42	TITIN_HUMAN	A	4015	ENSP00000343764:E4015A	ENSP00000343764:E4015A	E	-	2	0	TTN	179306489	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.694000	0.84235	2.232000	0.73038	0.533000	0.62120	GAA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation
TTN	7273	broad.mit.edu	37	2	179599611	179599611	+	Missense_Mutation	SNP	T	T	C	rs143093473	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179599611T>C	ENST00000591111.1	-	49	14313	c.14089A>G	c.(14089-14091)Act>Gct	p.T4697A	TTN_ENST00000589042.1_Missense_Mutation_p.T5014A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T3770A			Q8WZ42	TITIN_HUMAN	titin	12077	Ig-like 27.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T3770A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAAACCAAGTAACCTGGATC	0.408																																					p.T3770A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A11308G	2						.						55.0	52.0	53.0					2																	179599611		1853	4106	5959	179307856	SO:0001583	missense	7273	exon48			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.14089A>G	2.37:g.179599611T>C	ENSP00000465570:p.Thr4697Ala		179307856	NM_133378	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		.	.	.	.	.	.	.	.	.	.	T	11.73	1.725052	0.30593	.	.	ENSG00000155657	ENST00000342992	T	0.67698	-0.28	5.89	5.89	0.94794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65831	0.2729	L	0.58302	1.8	0.80722	D	1	P	0.38617	0.64	B	0.40602	0.334	T	0.70110	-0.4962	9	0.87932	D	0	.	12.5451	0.56195	0.1245:0.0:0.0:0.8755	.	4697	Q8WZ42	TITIN_HUMAN	A	3770	ENSP00000343764:T3770A	ENSP00000343764:T3770A	T	-	1	0	TTN	179307856	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	2.852000	0.48310	2.246000	0.74042	0.533000	0.62120	ACT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179605566	179605566	+	Missense_Mutation	SNP	G	G	T	rs557987374		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179605566G>T	ENST00000591111.1	-	46	11667	c.11443C>A	c.(11443-11445)Ctt>Att	p.L3815I	TTN_ENST00000589042.1_Missense_Mutation_p.L4132I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3961I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L3894I|TTN_ENST00000460472.2_Missense_Mutation_p.L3769I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L3961I(1)|p.L3769I(1)|p.L3894I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATGCAAAGAAATTCCCTG	0.458																																					p.L3769I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C11305A	2						.						159.0	156.0	157.0					2																	179605566		1934	4138	6072	179313811	SO:0001583	missense	7273	exon45			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.11443C>A	2.37:g.179605566G>T	ENSP00000465570:p.Leu3815Ile		179313811	NM_003319	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		.	.	.	.	.	.	.	.	.	.	G	9.895	1.205181	0.22205	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60672	0.22;0.18;0.17	4.77	2.92	0.33932	.	.	.	.	.	T	0.40956	0.1138	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.34675	-0.9819	9	0.87932	D	0	.	6.2837	0.21021	0.1614:0.153:0.6856:0.0	.	3769;3894;3961	D3DPF9;E7EQE6;E7ET18	.;.;.	I	3769;3961;3894;3769	ENSP00000434586:L3769I;ENSP00000340554:L3961I;ENSP00000352154:L3894I	ENSP00000340554:L3961I	L	-	1	0	TTN	179313811	0.951000	0.32395	0.022000	0.16811	0.035000	0.12851	0.832000	0.27490	0.418000	0.25898	0.655000	0.94253	CTT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179605997	179605997	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179605997T>C	ENST00000591111.1	-	46	11236	c.11012A>G	c.(11011-11013)cAt>cGt	p.H3671R	TTN_ENST00000589042.1_Missense_Mutation_p.H3988R|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H3817R|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H3750R|TTN_ENST00000460472.2_Missense_Mutation_p.H3625R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13977	Ig-like 22.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H3625R(1)|p.H3817R(1)|p.H3750R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTAGGGTTATGAATGATAGT	0.448																																					p.H3625R												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A10874G	2						.						91.0	90.0	90.0					2																	179605997		1904	4123	6027	179314242	SO:0001583	missense	7273	exon45			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.11012A>G	2.37:g.179605997T>C	ENSP00000465570:p.His3671Arg		179314242	NM_003319	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		.	.	.	.	.	.	.	.	.	.	T	7.234	0.599895	0.13939	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.65916	-0.18;-0.18;-0.18	5.87	5.87	0.94306	.	.	.	.	.	T	0.57592	0.2064	L	0.36672	1.1	0.22468	N	0.99908	B;B;B	0.18013	0.025;0.025;0.025	B;B;B	0.22152	0.038;0.038;0.038	T	0.55192	-0.8179	9	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	3625;3750;3817	D3DPF9;E7EQE6;E7ET18	.;.;.	R	3625;3817;3750;3625	ENSP00000434586:H3625R;ENSP00000340554:H3817R;ENSP00000352154:H3750R	ENSP00000340554:H3817R	H	-	2	0	TTN	179314242	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	3.153000	0.50685	2.371000	0.80710	0.533000	0.62120	CAT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179611081	179611081	+	Intron	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179611081A>G	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.V5349A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V5349A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATGGAAGAACATCTAGACT	0.338																																					p.V5349A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T16046C	2						.						53.0	49.0	50.0					2																	179611081		2203	4299	6502	179319326	SO:0001627	intron_variant	7273	exon46			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.10361-4433T>C	2.37:g.179611081A>G			179319326	NM_133379	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		.	.	.	.	.	.	.	.	.	.	A	14.66	2.602824	0.46423	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.66460	-0.21	5.88	5.88	0.94601	.	.	.	.	.	T	0.75309	0.3832	L	0.55481	1.735	0.80722	D	1	D	0.65815	0.995	D	0.68483	0.958	T	0.70092	-0.4967	9	0.09084	T	0.74	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	5349	Q8WZ42-6	.	A	5349;630	ENSP00000354117:V5349A	ENSP00000304714:V630A	V	-	2	0	TTN	179319326	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.339000	0.96797	2.246000	0.74042	0.533000	0.62120	GTT		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179611474	179611474	+	Intron	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179611474C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R5218Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R5218Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATTTATTTCGATACCATTT	0.373																																					p.R5218Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G15653A	2						.						95.0	93.0	93.0					2																	179611474		2203	4299	6502	179319719	SO:0001627	intron_variant	7273	exon46			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.10361-4826G>A	2.37:g.179611474C>T			179319719	NM_133379	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	16.70	3.195881	0.58126	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.47177	0.85	5.95	4.11	0.48088	.	.	.	.	.	T	0.59046	0.2165	M	0.68728	2.09	0.80722	D	1	D	0.58620	0.983	P	0.60415	0.874	T	0.61187	-0.7113	9	0.59425	D	0.04	.	8.3594	0.32351	0.1272:0.7304:0.0:0.1423	.	5218	Q8WZ42-6	.	Q	5218;499	ENSP00000354117:R5218Q	ENSP00000304714:R499Q	R	-	2	0	TTN	179319719	0.006000	0.16342	1.000000	0.80357	0.966000	0.64601	0.371000	0.20450	1.542000	0.49330	-0.123000	0.14984	CGA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179612468	179612468	+	Intron	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179612468T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.I4887V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I4887V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTAGGAATATTTTGAGAA	0.383																																					p.I4887V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A14659G	2						.						54.0	55.0	55.0					2																	179612468		2203	4299	6502	179320713	SO:0001627	intron_variant	7273	exon46			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.10360+5382A>G	2.37:g.179612468T>C			179320713	NM_133379	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		.	.	.	.	.	.	.	.	.	.	T	11.06	1.528644	0.27387	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57273	0.41	5.61	-0.388	0.12459	.	.	.	.	.	T	0.24005	0.0581	N	0.14661	0.345	0.19575	N	0.999967	B	0.02656	0.0	B	0.04013	0.001	T	0.20405	-1.0276	9	0.07030	T	0.85	.	1.3229	0.02120	0.1698:0.1291:0.3357:0.3654	.	4887	Q8WZ42-6	.	V	4887;201	ENSP00000354117:I4887V	ENSP00000304714:I201V	I	-	1	0	TTN	179320713	0.398000	0.25279	0.246000	0.24233	0.112000	0.19704	-0.087000	0.11215	0.093000	0.17368	-0.219000	0.12488	ATT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179622461	179622461	+	Intron	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179622461T>C	ENST00000591111.1	-	44	10528				TTN_ENST00000589042.1_Missense_Mutation_p.I3496V|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I3450V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I3450V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCATTGGATTTCTGGCTTG	0.468																																					p.I3450V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A10348G	2						.						105.0	105.0	105.0					2																	179622461		1881	4120	6001	179330706	SO:0001627	intron_variant	7273	exon44			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+1249A>G	2.37:g.179622461T>C			179330706	NM_133432	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		.	.	.	.	.	.	.	.	.	.	T	11.37	1.618384	0.28801	.	.	ENSG00000155657	ENST00000359218	T	0.60424	0.19	6.16	4.99	0.66335	.	.	.	.	.	T	0.47783	0.1464	.	.	.	0.21325	N	0.99972	B	0.06786	0.001	B	0.13407	0.009	T	0.45352	-0.9267	8	0.87932	D	0	.	8.881	0.35374	0.0:0.1498:0.0:0.8502	.	3450	E7EQE6	.	V	3450	ENSP00000352154:I3450V	ENSP00000352154:I3450V	I	-	1	0	TTN	179330706	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.297000	0.43593	1.111000	0.41721	-0.417000	0.06048	ATC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179631233	179631233	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179631233C>T	ENST00000591111.1	-	41	9802	c.9578G>A	c.(9577-9579)cGa>cAa	p.R3193Q	TTN_ENST00000589042.1_Missense_Mutation_p.R3193Q|TTN_ENST00000360870.5_Missense_Mutation_p.R3193Q|TTN_ENST00000342175.6_Missense_Mutation_p.R3147Q|TTN_ENST00000359218.5_Missense_Mutation_p.R3147Q|TTN_ENST00000460472.2_Missense_Mutation_p.R3147Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R3193Q			Q8WZ42	TITIN_HUMAN	titin	13523					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R3147Q(6)|p.R3193Q(4)		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)			ATATTTGTGTCGTTCTTGAAC	0.428																																					p.R3193Q												.	.	10	Substitution - Missense(10)	large_intestine(10)	c.G9578A	2						.						158.0	145.0	149.0					2																	179631233		2203	4300	6503	179339478	SO:0001583	missense	7273	exon41			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.9578G>A	2.37:g.179631233C>T	ENSP00000465570:p.Arg3193Gln		179339478	NM_133379	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	17.20	3.328582	0.60743	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83326	0.5230	M	0.79258	2.445	0.33558	D	0.596937	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	D	0.87476	0.2417	9	0.87932	D	0	.	19.8277	0.96624	0.0:1.0:0.0:0.0	.	3147;3147;3147;3193;3193	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	3193;3147;3147;3147;3147;3193	ENSP00000343764:R3193Q;ENSP00000434586:R3147Q;ENSP00000340554:R3147Q;ENSP00000352154:R3147Q;ENSP00000354117:R3193Q	ENSP00000340554:R3147Q	R	-	2	0	TTN	179339478	1.000000	0.71417	0.997000	0.53966	0.520000	0.34377	7.487000	0.81328	2.695000	0.91970	0.591000	0.81541	CGA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179640347	179640347	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179640347C>T	ENST00000591111.1	-	28	6468	c.6244G>A	c.(6244-6246)Gaa>Aaa	p.E2082K	TTN_ENST00000589042.1_Missense_Mutation_p.E2082K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2082K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2036K|TTN_ENST00000359218.5_Missense_Mutation_p.E2036K|TTN_ENST00000460472.2_Missense_Mutation_p.E2036K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E2082K			Q8WZ42	TITIN_HUMAN	titin	12771	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E2036K(3)|p.E2082K(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATTCTTTCGAAGATTTTT	0.458																																					p.E2082K												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.G6244A	2						.						85.0	87.0	86.0					2																	179640347		2203	4300	6503	179348592	SO:0001583	missense	7273	exon28			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.6244G>A	2.37:g.179640347C>T	ENSP00000465570:p.Glu2082Lys		179348592	NM_133379	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	14.92	2.680146	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75503	0.3858	L	0.46819	1.47	0.39856	D	0.973311	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.78523	-0.2171	9	0.87932	D	0	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	2036;2036;2036;2082;2082	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	2082;2036;2036;2036;2036;2082	ENSP00000343764:E2082K;ENSP00000434586:E2036K;ENSP00000340554:E2036K;ENSP00000352154:E2036K;ENSP00000354117:E2082K	ENSP00000340554:E2036K	E	-	1	0	TTN	179348592	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.792000	0.85828	2.503000	0.84419	0.655000	0.94253	GAA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179640738	179640738	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179640738T>C	ENST00000591111.1	-	28	6077	c.5853A>G	c.(5851-5853)gtA>gtG	p.V1951V	TTN_ENST00000589042.1_Silent_p.V1951V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.V1951V|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Silent_p.V1905V|TTN_ENST00000359218.5_Silent_p.V1905V|TTN_ENST00000460472.2_Silent_p.V1905V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.V1951V			Q8WZ42	TITIN_HUMAN	titin	12778					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V1905V(3)|p.V1951V(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTTCATGTACGTGAAACT	0.423																																					p.V1951V												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.A5853G	2						.						172.0	178.0	176.0					2																	179640738		2203	4300	6503	179348983	SO:0001819	synonymous_variant	7273	exon28			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.5853A>G	2.37:g.179640738T>C			179348983	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179645914	179645914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179645914C>A	ENST00000591111.1	-	21	3681	c.3457G>T	c.(3457-3459)Gaa>Taa	p.E1153*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E1153*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E1153*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E1107*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E1107*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E1107*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E1153*			Q8WZ42	TITIN_HUMAN	titin	33370	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E1107*(3)|p.E1153*(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGTGTATTCTCCAGCATCA	0.368																																					p.E1153X												.	.	5	Substitution - Nonsense(5)	large_intestine(5)	c.G3457T	2						.						200.0	173.0	182.0					2																	179645914		2203	4300	6503	179354159	SO:0001587	stop_gained	7273	exon21			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.3457G>T	2.37:g.179645914C>A	ENSP00000465570:p.Glu1153*		179354159	NM_133379	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	45	11.464752	0.99565	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2885	0.98538	0.0:1.0:0.0:0.0	.	.	.	.	X	1153;1107;1107;1107;1107;1153	.	ENSP00000340554:E1107X	E	-	1	0	TTN	179354159	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.782000	0.85680	2.791000	0.96007	0.650000	0.86243	GAA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179664595	179664595	+	Missense_Mutation	SNP	G	G	A	rs372632047		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179664595G>A	ENST00000591111.1	-	5	850	c.626C>T	c.(625-627)tCg>tTg	p.S209L	TTN_ENST00000589042.1_Missense_Mutation_p.S209L|TTN_ENST00000360870.5_Missense_Mutation_p.S209L|TTN_ENST00000342175.6_Missense_Mutation_p.S209L|TTN_ENST00000359218.5_Missense_Mutation_p.S209L|TTN_ENST00000460472.2_Missense_Mutation_p.S209L|TTN_ENST00000342992.6_Missense_Mutation_p.S209L			Q8WZ42	TITIN_HUMAN	titin	33883					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S209L(5)		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)			CTGAGCAGTCGAAACAATTGT	0.418																																					p.S209L												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.C626T	2						.	G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	112.0	109.0	110.0		626,626,626,626,626	5.9	1.0	2		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	145,145,145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	209/26927,209/33424,209/5605,209/27052,209/27119	179664595	1,13005	2203	4300	6503	179372840	SO:0001583	missense	7273	exon5			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.626C>T	2.37:g.179664595G>A	ENSP00000465570:p.Ser209Leu		179372840	NM_133379	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		.	.	.	.	.	.	.	.	.	.	G	25.3	4.627457	0.87560	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68479	-0.33;-0.03;-0.06;-0.07;0.07	5.92	5.92	0.95590	.	.	.	.	.	T	0.81264	0.4786	M	0.63843	1.955	0.41461	D	0.988042	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	P;P;P;P;D	0.74348	0.806;0.806;0.806;0.886;0.983	T	0.81718	-0.0805	9	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	209;209;209;209;209	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	209	ENSP00000343764:S209L;ENSP00000434586:S209L;ENSP00000340554:S209L;ENSP00000352154:S209L;ENSP00000354117:S209L	ENSP00000340554:S209L	S	-	2	0	TTN	179372840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.809000	0.96659	0.655000	0.94253	TCG		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179669352	179669352	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179669352C>T	ENST00000591111.1	-	2	242	c.18G>A	c.(16-18)ccG>ccA	p.P6P	TTN_ENST00000589042.1_Silent_p.P6P|TTN_ENST00000360870.5_Silent_p.P6P|TTN_ENST00000342175.6_Silent_p.P6P|TTN_ENST00000359218.5_Silent_p.P6P|TTN_ENST00000460472.2_Silent_p.P6P|TTN_ENST00000342992.6_Silent_p.P6P			Q8WZ42	TITIN_HUMAN	titin	32617	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P6P(5)		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)			GCGTAAACGTCGGTGCTTGAG	0.463																																					p.P6P												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.G18A	2						.						119.0	99.0	106.0					2																	179669352		2203	4300	6503	179377597	SO:0001819	synonymous_variant	7273	exon2			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.18G>A	2.37:g.179669352C>T			179377597	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	broad.mit.edu	37	2	179702150	179702150	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:179702150G>T	ENST00000420890.2	-	23	3913	c.3796C>A	c.(3796-3798)Ctt>Att	p.L1266I	CCDC141_ENST00000295723.5_Missense_Mutation_p.L691I|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1266								p.L1266I(1)|p.L691I(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGTGGTGGAAGAACAGATTCC	0.542																																					p.L1266I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3796A	2						.						73.0	75.0	74.0					2																	179702150		2203	4300	6503	179410395	SO:0001583	missense	285025	exon23			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3796C>A	2.37:g.179702150G>T	ENSP00000395995:p.Leu1266Ile		179410395	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37		.	.	.	.	.	.	.	.	.	.	G	12.49	1.953989	0.34471	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.53640	0.61;1.2;1.19	5.41	2.58	0.30949	.	0.247508	0.28448	N	0.015308	T	0.28366	0.0701	N	0.19112	0.55	0.09310	N	1	P;B	0.34724	0.465;0.073	B;B	0.32583	0.148;0.064	T	0.10245	-1.0638	10	0.40728	T	0.16	-1.2313	7.7696	0.28999	0.1402:0.0:0.7271:0.1327	.	691;691	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	I	1266;710;691	ENSP00000395995:L1266I;ENSP00000344627:L710I;ENSP00000295723:L691I	ENSP00000295723:L691I	L	-	1	0	CCDC141	179410395	0.870000	0.30015	0.344000	0.25628	0.991000	0.79684	1.091000	0.30915	0.232000	0.21100	0.650000	0.86243	CTT		0.542	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
CWC22	57703	broad.mit.edu	37	2	180851450	180851450	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:180851450G>A	ENST00000410053.3	-	4	477	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	CWC22_ENST00000295749.6_Missense_Mutation_p.R60C	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	60	Arg-rich.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R60C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCATAAGAACGTCCTCTTCTT	0.343																																					p.R60C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C178T	2						.						83.0	77.0	79.0					2																	180851450		1853	4091	5944	180559695	SO:0001583	missense	57703	exon4				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.178C>T	2.37:g.180851450G>A	ENSP00000387006:p.Arg60Cys		180559695	NM_020943	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749672	0.49257	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.30182	1.99;1.99;1.54	5.95	3.16	0.36331	.	1.169340	0.05759	N	0.604604	T	0.28632	0.0709	L	0.48642	1.525	0.31814	N	0.626919	D	0.62365	0.991	B	0.40410	0.328	T	0.29518	-1.0009	10	0.62326	D	0.03	-1.0691	7.267	0.26235	0.3643:0.0:0.6357:0.0	.	60	Q9HCG8	CWC22_HUMAN	C	60	ENSP00000387006:R60C;ENSP00000295749:R60C;ENSP00000384159:R60C	ENSP00000295749:R60C	R	-	1	0	CWC22	180559695	0.462000	0.25791	0.992000	0.48379	0.712000	0.41017	2.219000	0.42899	0.397000	0.25310	0.655000	0.94253	CGT		0.343	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943	
CERKL	375298	broad.mit.edu	37	2	182409488	182409488	+	Missense_Mutation	SNP	C	C	T	rs148507801	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:182409488C>T	ENST00000339098.5	-	12	1381	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	CERKL_ENST00000374969.2_Missense_Mutation_p.R322Q|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R417Q|CERKL_ENST00000410087.3_Missense_Mutation_p.R435Q|CERKL_ENST00000374970.2_Missense_Mutation_p.R366Q			Q49MI3	CERKL_HUMAN	ceramide kinase-like	461					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.R435Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AGAAGTGTTTCGGGCAATTAT	0.279													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16201	0.0		0.0	False		,,,				2504	0.0				p.R435Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1304A	2						.	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	14,4392	20.2+/-43.8	0,14,2189	59.0	59.0	59.0		1382,965,1097,1250,1304	6.0	1.0	2	dbSNP_134	59	0,8592		0,0,4296	yes	missense,missense,missense,missense,missense	CERKL	NM_001030311.2,NM_001030312.2,NM_001030313.2,NM_001160277.1,NM_201548.4	43,43,43,43,43	0,14,6485	TT,TC,CC		0.0,0.3177,0.1077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	461/559,322/420,366/464,417/515,435/533	182409488	14,12984	2203	4296	6499	182117733	SO:0001583	missense	375298	exon11			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1382G>A	2.37:g.182409488C>T	ENSP00000341159:p.Arg461Gln		182117733	NM_201548	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031638	0.75504	0.003177	0.0	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.98	5.98	0.97165	.	0.135447	0.51477	D	0.000090	T	0.47673	0.1458	M	0.86420	2.815	0.38123	D	0.937921	D;D;D;P;P	0.76494	0.977;0.963;0.999;0.94;0.809	B;B;D;B;B	0.77557	0.273;0.391;0.99;0.345;0.08	T	0.52837	-0.8522	10	0.48119	T	0.1	.	15.5154	0.75818	0.0:0.9324:0.0:0.0676	.	417;322;366;435;461	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	Q	435;417;322;461;366	ENSP00000386725:R435Q;ENSP00000387080:R417Q;ENSP00000364108:R322Q;ENSP00000341159:R461Q;ENSP00000364109:R366Q	ENSP00000341159:R461Q	R	-	2	0	CERKL	182117733	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	2.472000	0.45136	2.838000	0.97847	0.655000	0.94253	CGA		0.279	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1		
PDE1A	5136	broad.mit.edu	37	2	183051307	183051307	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:183051307C>T	ENST00000410103.1	-	13	1347	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	PDE1A_ENST00000435564.1_Missense_Mutation_p.D422N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D422N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D406N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D422N|PDE1A_ENST00000536095.1_Missense_Mutation_p.D318N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D422N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D388N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D406N	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	422	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.D422N(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ACTATGAAATCGATGAAACCT	0.353																																					p.D422N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1264A	2						.						50.0	51.0	51.0					2																	183051307		2203	4300	6503	182759552	SO:0001583	missense	5136	exon12				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1264G>A	2.37:g.183051307C>T	ENSP00000387037:p.Asp422Asn		182759552	NM_005019	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585478	0.86748	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.57	4.69	0.59074	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88217	0.6377	L	0.49256	1.55	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.996;1.0;0.995	P;D;D;D;P	0.91635	0.879;0.999;0.944;0.999;0.876	D	0.89272	0.3605	10	0.87932	D	0	.	13.8299	0.63373	0.0:0.9264:0.0:0.0736	.	318;388;422;406;422	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	N	422;388;318;406;422;406;422;422;422	ENSP00000410309:D422N;ENSP00000329112:D388N;ENSP00000439938:D318N;ENSP00000386767:D406N;ENSP00000331574:D422N;ENSP00000309269:D406N;ENSP00000387037:D422N;ENSP00000350858:D422N;ENSP00000408874:D422N	ENSP00000331574:D422N	D	-	1	0	PDE1A	182759552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.142000	0.77339	1.498000	0.48600	0.655000	0.94253	GAT		0.353	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1		
DNAJC10	54431	broad.mit.edu	37	2	183593608	183593608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:183593608G>T	ENST00000264065.7	+	7	935	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.E174*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	174	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.E174*(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTTGCTAAAGAAGTGGATGG	0.378																																					p.E174X	Pancreas(56;860 1183 25669 35822 48585)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G520T	2						.						178.0	173.0	175.0					2																	183593608		2203	4300	6503	183301853	SO:0001587	stop_gained	54431	exon7				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.520G>T	2.37:g.183593608G>T	ENSP00000264065:p.Glu174*		183301853	NM_018981	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Nonsense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	41	9.093017	0.99062	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537410;ENST00000537515	.	.	.	5.64	5.64	0.86602	.	0.056353	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.7012	0.96054	0.0:0.0:1.0:0.0	.	.	.	.	X	174	.	ENSP00000264065:E174X	E	+	1	0	DNAJC10	183301853	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.330000	0.96422	2.637000	0.89404	0.563000	0.77884	GAA		0.378	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	
DNAJC10	54431	broad.mit.edu	37	2	183605099	183605099	+	Missense_Mutation	SNP	C	C	T	rs201843743		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:183605099C>T	ENST00000264065.7	+	12	1476	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	354	Trxb 2.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.S354L(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAACTACTTTCGGCAAACACA	0.274																																					p.S354L	Pancreas(56;860 1183 25669 35822 48585)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1061T	2						.						34.0	37.0	36.0					2																	183605099		2189	4261	6450	183313344	SO:0001583	missense	54431	exon12				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1061C>T	2.37:g.183605099C>T	ENSP00000264065:p.Ser354Leu		183313344	NM_018981	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422955	0.43020	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.24151	1.87	5.22	3.42	0.39159	Thioredoxin-like fold (2);	0.206931	0.43110	N	0.000615	T	0.31857	0.0810	M	0.63428	1.95	0.80722	D	1	D;D	0.63880	0.993;0.988	P;B	0.47162	0.54;0.268	T	0.09975	-1.0650	10	0.59425	D	0.04	.	11.8634	0.52480	0.0:0.8566:0.0:0.1434	.	308;354	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	L	354;308	ENSP00000264065:S354L	ENSP00000264065:S354L	S	+	2	0	DNAJC10	183313344	0.998000	0.40836	0.986000	0.45419	0.593000	0.36681	4.305000	0.59110	0.695000	0.31675	0.650000	0.86243	TCG		0.274	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	
DNAJC10	54431	broad.mit.edu	37	2	183621077	183621077	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:183621077A>G	ENST00000264065.7	+	18	2105	c.1690A>G	c.(1690-1692)Acc>Gcc	p.T564A		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	564	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.T564A(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCTTACACCCACCACCTTCAA	0.398																																					p.T564A	Pancreas(56;860 1183 25669 35822 48585)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1690G	2						.						130.0	121.0	124.0					2																	183621077		2203	4300	6503	183329322	SO:0001583	missense	54431	exon18				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1690A>G	2.37:g.183621077A>G	ENSP00000264065:p.Thr564Ala		183329322	NM_018981	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940813	0.34283	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.37752	1.18	6.17	3.82	0.43975	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.401569	0.29280	N	0.012604	T	0.15349	0.0370	N	0.04090	-0.28	0.80722	D	1	B;B	0.18610	0.003;0.029	B;B	0.23716	0.003;0.048	T	0.06303	-1.0834	10	0.28530	T	0.3	.	4.64	0.12543	0.5938:0.0:0.4062:0.0	.	518;564	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	A	564;518	ENSP00000264065:T564A	ENSP00000264065:T564A	T	+	1	0	DNAJC10	183329322	0.999000	0.42202	0.870000	0.34147	0.640000	0.38277	3.799000	0.55529	1.144000	0.42321	0.533000	0.62120	ACC		0.398	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	
NCKAP1	10787	broad.mit.edu	37	2	183866921	183866921	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:183866921C>T	ENST00000361354.4	-	5	818	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R155Q	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	149					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.R155Q(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCTTCAATTCGAGACAGCAG	0.313																																					p.R149Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446A	2						.						115.0	116.0	116.0					2																	183866921		2203	4300	6503	183575166	SO:0001583	missense	10787	exon5			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.446G>A	2.37:g.183866921C>T	ENSP00000355348:p.Arg149Gln		183575166	NM_013436	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787492	0.90367	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.38560	1.13;1.13	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.87547	2.89	0.80722	D	1	P;P	0.49358	0.855;0.923	B;B	0.40940	0.344;0.232	T	0.66288	-0.5961	10	0.62326	D	0.03	-7.3816	19.6582	0.95853	0.0:1.0:0.0:0.0	.	149;155	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	Q	149;155	ENSP00000355348:R149Q;ENSP00000354251:R155Q	ENSP00000354251:R155Q	R	-	2	0	NCKAP1	183575166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.678000	0.84035	2.725000	0.93324	0.655000	0.94253	CGA		0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
DUSP19	142679	broad.mit.edu	37	2	183960324	183960324	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:183960324C>T	ENST00000354221.4	+	4	767	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000342619.6_Missense_Mutation_p.R147C|DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	198					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.R198C(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GGAGCAGCTTCGTACATATCA	0.403																																					p.R198C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C592T	2						.						120.0	116.0	117.0					2																	183960324		2203	4300	6503	183668569	SO:0001583	missense	142679	exon4			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.592C>T	2.37:g.183960324C>T	ENSP00000346160:p.Arg198Cys		183668569	NM_080876	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196218	0.58126	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	D;D	0.85484	-1.99;-1.99	5.57	5.57	0.84162	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.254081	0.47093	D	0.000241	T	0.81777	0.4894	L	0.35723	1.085	0.51233	D	0.99991	B;B	0.16396	0.013;0.017	B;B	0.18561	0.02;0.022	T	0.76000	-0.3119	10	0.52906	T	0.07	.	19.9083	0.97015	0.0:1.0:0.0:0.0	.	147;198	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	C	147;198	ENSP00000343905:R147C;ENSP00000346160:R198C	ENSP00000343905:R147C	R	+	1	0	DUSP19	183668569	0.492000	0.26027	0.959000	0.39883	0.976000	0.68499	1.259000	0.32956	2.777000	0.95525	0.591000	0.81541	CGT		0.403	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1		
ZNF804A	91752	broad.mit.edu	37	2	185798363	185798363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:185798363C>T	ENST00000302277.6	+	3	883	c.289C>T	c.(289-291)Cga>Tga	p.R97*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	97							metal ion binding (GO:0046872)	p.R97*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGAATTTGCTCGAAATGTAGC	0.368																																					p.R97X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C289T	2						.						63.0	65.0	64.0					2																	185798363		2203	4300	6503	185506608	SO:0001587	stop_gained	91752	exon3			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.289C>T	2.37:g.185798363C>T	ENSP00000303252:p.Arg97*		185506608	NM_194250	A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	41	9.068931	0.99055	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.62	3.66	0.41972	.	0.000000	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.569	13.3294	0.60477	0.2866:0.7134:0.0:0.0	.	.	.	.	X	97	.	ENSP00000303252:R97X	R	+	1	2	ZNF804A	185506608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.944000	0.56629	1.307000	0.44944	0.585000	0.79938	CGA		0.368	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ZNF804A	91752	broad.mit.edu	37	2	185801033	185801033	+	Missense_Mutation	SNP	G	G	T	rs142766490		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:185801033G>T	ENST00000302277.6	+	4	1504	c.910G>T	c.(910-912)Gat>Tat	p.D304Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	304							metal ion binding (GO:0046872)	p.D304Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAGTGAAAAAGATGCATTATT	0.348																																					p.D304Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G910T	2						.						33.0	32.0	32.0					2																	185801033		2202	4294	6496	185509278	SO:0001583	missense	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.910G>T	2.37:g.185801033G>T	ENSP00000303252:p.Asp304Tyr		185509278	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391442	0.42410	.	.	ENSG00000170396	ENST00000302277	T	0.59502	0.26	5.57	3.74	0.42951	.	0.731429	0.12636	N	0.451687	T	0.60818	0.2298	L	0.57536	1.79	0.23425	N	0.997709	D	0.56521	0.976	P	0.53185	0.72	T	0.51949	-0.8640	10	0.52906	T	0.07	-11.5405	5.477	0.16702	0.3677:0.0:0.6323:0.0	.	304	Q7Z570	Z804A_HUMAN	Y	304	ENSP00000303252:D304Y	ENSP00000303252:D304Y	D	+	1	0	ZNF804A	185509278	0.877000	0.30153	0.660000	0.29694	0.957000	0.61999	2.088000	0.41663	1.314000	0.45095	0.591000	0.81541	GAT		0.348	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ZNF804A	91752	broad.mit.edu	37	2	185802477	185802477	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:185802477T>C	ENST00000302277.6	+	4	2948	c.2354T>C	c.(2353-2355)tTa>tCa	p.L785S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	785							metal ion binding (GO:0046872)	p.L785S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GATGAAAGTTTAAATCGACAG	0.378																																					p.L785S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2354C	2						.						48.0	52.0	51.0					2																	185802477		2202	4299	6501	185510722	SO:0001583	missense	91752	exon4			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2354T>C	2.37:g.185802477T>C	ENSP00000303252:p.Leu785Ser		185510722	NM_194250	A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508754	0.27036	.	.	ENSG00000170396	ENST00000302277	T	0.06449	3.3	5.81	4.62	0.57501	.	0.157599	0.29660	N	0.011524	T	0.06234	0.0161	L	0.40543	1.245	0.26994	N	0.965063	B	0.32829	0.386	B	0.31495	0.131	T	0.27839	-1.0062	10	0.32370	T	0.25	-5.448	10.0259	0.42070	0.0:0.1423:0.0:0.8577	.	785	Q7Z570	Z804A_HUMAN	S	785	ENSP00000303252:L785S	ENSP00000303252:L785S	L	+	2	0	ZNF804A	185510722	0.937000	0.31787	0.945000	0.38365	0.801000	0.45260	1.543000	0.36147	0.985000	0.38656	0.533000	0.62120	TTA		0.378	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
FSIP2	401024	broad.mit.edu	37	2	186671911	186671911	+	Missense_Mutation	SNP	C	C	T	rs374157643		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:186671911C>T	ENST00000424728.1	+	17	17878	c.17878C>T	c.(17878-17880)Cgt>Tgt	p.R5960C	FSIP2_ENST00000343098.5_Missense_Mutation_p.R6049C			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5960				R -> H (in Ref. 3; AK126051/BAC86406). {ECO:0000305}.				p.R658C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATTTTCCAACGTCAGGTTAA	0.353																																					p.R6049C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C18145T	2						.	C	CYS/ARG	0,3674		0,0,1837	136.0	130.0	132.0		18145	2.9	0.6	2		132	1,8157		0,1,4078	no	missense	FSIP2	NM_173651.2	180	0,1,5915	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	6049/6997	186671911	1,11831	1837	4079	5916	186380156	SO:0001583	missense	401024	exon17			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17878C>T	2.37:g.186671911C>T	ENSP00000401306:p.Arg5960Cys		186380156	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	C	10.03	1.238574	0.22711	0.0	1.23E-4	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.47869	0.83;0.83	4.8	2.93	0.34026	.	0.119549	0.38058	N	0.001825	T	0.26955	0.0660	N	0.08118	0	0.20926	N	0.999821	.	.	.	.	.	.	T	0.15292	-1.0442	8	0.72032	D	0.01	.	5.9933	0.19478	0.1851:0.717:0.0:0.098	.	.	.	.	C	6049;5960	ENSP00000344403:R6049C;ENSP00000401306:R5960C	ENSP00000344403:R6049C	R	+	1	0	FSIP2	186380156	0.336000	0.24757	0.583000	0.28640	0.474000	0.32979	0.539000	0.23175	0.569000	0.29329	0.491000	0.48974	CGT		0.353	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
FSIP2	401024	broad.mit.edu	37	2	186672895	186672895	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:186672895T>G	ENST00000424728.1	+	17	18862	c.18862T>G	c.(18862-18864)Tta>Gta	p.L6288V	FSIP2_ENST00000343098.5_Missense_Mutation_p.L6377V			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6288								p.L986V(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATAGGCTTTTTAATGGTGAA	0.318																																					p.L6377V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T19129G	2						.						46.0	43.0	44.0					2																	186672895		1807	4068	5875	186381140	SO:0001583	missense	401024	exon17			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18862T>G	2.37:g.186672895T>G	ENSP00000401306:p.Leu6288Val		186381140	NM_173651	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	T	14.91	2.676676	0.47886	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.55760	0.5;0.5	5.64	5.64	0.86602	.	0.170497	0.28252	N	0.016032	T	0.53722	0.1814	L	0.47190	1.495	0.24052	N	0.996049	.	.	.	.	.	.	T	0.51702	-0.8672	8	0.38643	T	0.18	.	12.173	0.54169	0.0:0.0:0.0:1.0	.	.	.	.	V	6377;6288	ENSP00000344403:L6377V;ENSP00000401306:L6288V	ENSP00000344403:L6377V	L	+	1	2	FSIP2	186381140	0.652000	0.27349	0.968000	0.41197	0.442000	0.32017	0.138000	0.16016	2.367000	0.80283	0.528000	0.53228	TTA		0.318	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
FAM171B	165215	broad.mit.edu	37	2	187605072	187605072	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:187605072G>T	ENST00000304698.5	+	2	559	c.356G>T	c.(355-357)aGc>aTc	p.S119I		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	119						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.S119I(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTAACTAAAAGCAATGGAGCA	0.403																																					p.S119I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G356T	2						.						135.0	119.0	124.0					2																	187605072		2203	4300	6503	187313317	SO:0001583	missense	165215	exon2			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.356G>T	2.37:g.187605072G>T	ENSP00000304108:p.Ser119Ile		187313317	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737506	0.30774	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.33438	1.41	6.16	-7.57	0.01318	.	1.047050	0.07327	N	0.878693	T	0.28532	0.0706	L	0.46157	1.445	0.09310	N	1	B;B	0.22146	0.065;0.065	B;B	0.28385	0.089;0.089	T	0.41556	-0.9502	10	0.59425	D	0.04	-2.2169	15.9493	0.79820	0.4404:0.0:0.5596:0.0	.	119;120	Q6P995;A8K122	F171B_HUMAN;.	I	119	ENSP00000304108:S119I	ENSP00000272804:S119I	S	+	2	0	FAM171B	187313317	0.503000	0.26115	0.002000	0.10522	0.605000	0.37080	0.090000	0.15025	-1.257000	0.02475	-1.124000	0.02001	AGC		0.403	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
FAM171B	165215	broad.mit.edu	37	2	187615999	187615999	+	Missense_Mutation	SNP	G	G	A	rs187742493	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:187615999G>A	ENST00000304698.5	+	5	1066	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	288						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.R288P(1)|p.R288H(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCAGGGGATCGCATACCTGCT	0.358													G|||	2	0.000399361	0.0	0.0	5008	,	,		17268	0.002		0.0	False		,,,				2504	0.0				p.R288H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G863A	2						.						79.0	82.0	81.0					2																	187615999		2203	4300	6503	187324244	SO:0001583	missense	165215	exon5			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.863G>A	2.37:g.187615999G>A	ENSP00000304108:p.Arg288His		187324244	NM_177454	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	CCDS33347.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	6.258	0.415756	0.11870	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.30448	1.53	5.49	2.23	0.28157	.	0.484280	0.24798	N	0.035502	T	0.10165	0.0249	N	0.05078	-0.115	0.20403	N	0.999909	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.16778	-1.0391	10	0.14656	T	0.56	-0.9475	1.0339	0.01544	0.2183:0.4101:0.2092:0.1624	.	288;289	Q6P995;A8K122	F171B_HUMAN;.	H	288	ENSP00000304108:R288H	ENSP00000272804:R288H	R	+	2	0	FAM171B	187324244	0.664000	0.27457	0.747000	0.31113	0.471000	0.32888	1.368000	0.34216	1.105000	0.41606	0.609000	0.83330	CGC		0.358	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454	
ZSWIM2	151112	broad.mit.edu	37	2	187698730	187698730	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:187698730T>C	ENST00000295131.2	-	6	810	c.771A>G	c.(769-771)ttA>ttG	p.L257L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	257					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L257L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATTCCTGGCATAAGTGATATT	0.348																																					p.L257L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A771G	2						.						129.0	112.0	117.0					2																	187698730		2203	4300	6503	187406975	SO:0001819	synonymous_variant	151112	exon6			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.771A>G	2.37:g.187698730T>C			187406975	NM_182521	B3KXV6|Q53SI3|Q57ZY3	Silent	SNP	ENST00000295131.2	37	CCDS33348.1																																																																																				0.348	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521	
WDR75	84128	broad.mit.edu	37	2	190329838	190329838	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:190329838T>G	ENST00000314761.4	+	12	1207	c.1147T>G	c.(1147-1149)Tat>Gat	p.Y383D		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	383						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Y383D(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TATTAATGATTATGGTCTGAT	0.333																																					p.Y383D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1147G	2						.						68.0	72.0	71.0					2																	190329838		2203	4299	6502	190038083	SO:0001583	missense	84128	exon12			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1147T>G	2.37:g.190329838T>G	ENSP00000314193:p.Tyr383Asp		190038083	NM_032168	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	T	5.316	0.243637	0.10077	.	.	ENSG00000115368	ENST00000314761	T	0.59772	0.24	5.5	-4.35	0.03656	WD40/YVTN repeat-like-containing domain (1);	1.609930	0.03033	N	0.152337	T	0.31199	0.0789	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08806	-1.0704	10	0.22109	T	0.4	-0.1178	4.1083	0.10047	0.1027:0.2556:0.4696:0.172	.	383;383	A8K330;Q8IWA0	.;WDR75_HUMAN	D	383	ENSP00000314193:Y383D	ENSP00000314193:Y383D	Y	+	1	0	WDR75	190038083	0.000000	0.05858	0.007000	0.13788	0.992000	0.81027	0.142000	0.16096	-0.546000	0.06216	0.533000	0.62120	TAT		0.333	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	
PMS1	5378	broad.mit.edu	37	2	190719000	190719000	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:190719000G>A	ENST00000441310.2	+	9	1235	c.1002G>A	c.(1000-1002)acG>acA	p.T334T	PMS1_ENST00000447232.2_Silent_p.T334T|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Silent_p.T158T|PMS1_ENST00000409823.3_Silent_p.T295T|PMS1_ENST00000432292.3_Silent_p.T158T	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	334					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.T334T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ATCTGATGACGACTTGTTATG	0.289			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																													p.T334T		yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1002A	2						.						32.0	35.0	34.0					2																	190719000		2107	4266	6373	190427245	SO:0001819	synonymous_variant	5378	exon9				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1002G>A	2.37:g.190719000G>A			190427245	NM_000534	D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	ENST00000441310.2	37	CCDS2302.1																																																																																				0.289	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2		
SLC39A10	57181	broad.mit.edu	37	2	196545296	196545296	+	Missense_Mutation	SNP	G	G	A	rs371992525		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:196545296G>A	ENST00000409086.3	+	2	805	c.530G>A	c.(529-531)cGc>cAc	p.R177H	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.R177H	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	177	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R177H(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CATAATCACCGCCTACGTCAT	0.403																																					p.R177H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G530A	2						.	G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	128.0	108.0	115.0		530,530	1.5	0.0	2		115	0,8600		0,0,4300	no	missense,missense	SLC39A10	NM_020342.2,NM_001127257.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	177/832,177/832	196545296	1,13005	2203	4300	6503	196253541	SO:0001583	missense	57181	exon2				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.530G>A	2.37:g.196545296G>A	ENSP00000386766:p.Arg177His		196253541	NM_001127257	A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	3.643	-0.073033	0.07228	2.27E-4	0.0	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.63096	-0.02;-0.02	4.91	1.48	0.22813	.	1.083740	0.06933	N	0.811407	T	0.44705	0.1306	N	0.16478	0.41	0.33212	D	0.553481	B	0.09022	0.002	B	0.08055	0.003	T	0.44757	-0.9307	10	0.27082	T	0.32	.	8.5384	0.33377	0.4059:0.0:0.5941:0.0	.	177	Q9ULF5	S39AA_HUMAN	H	177	ENSP00000386766:R177H;ENSP00000352655:R177H	ENSP00000352655:R177H	R	+	2	0	SLC39A10	196253541	0.601000	0.26907	0.031000	0.17742	0.525000	0.34531	1.767000	0.38501	0.489000	0.27749	0.655000	0.94253	CGC		0.403	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707	
SLC39A10	57181	broad.mit.edu	37	2	196592995	196592995	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:196592995T>C	ENST00000409086.3	+	9	2534	c.2259T>C	c.(2257-2259)ggT>ggC	p.G753G	SLC39A10_ENST00000541054.1_Silent_p.G303G|SLC39A10_ENST00000359634.5_Silent_p.G753G	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	753					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.G753G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CAGCTGTTGGTCAGTATGCCA	0.408																																					p.G753G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T2259C	2						.						243.0	207.0	219.0					2																	196592995		2203	4300	6503	196301240	SO:0001819	synonymous_variant	57181	exon9				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.2259T>C	2.37:g.196592995T>C			196301240	NM_001127257	A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	CCDS33353.1																																																																																				0.408	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707	
DNAH7	56171	broad.mit.edu	37	2	196759818	196759818	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:196759818A>C	ENST00000312428.6	-	30	4878	c.4778T>G	c.(4777-4779)cTt>cGt	p.L1593R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1593	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATATACTTGAAGAATCTTCTC	0.373																																					p.L1593R												.	.	0			c.T4778G	2						.						97.0	88.0	91.0					2																	196759818		1847	4099	5946	196468063	SO:0001583	missense	56171	exon30			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4778T>G	2.37:g.196759818A>C	ENSP00000311273:p.Leu1593Arg		196468063	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.376146	0.61735	.	.	ENSG00000118997	ENST00000312428	T	0.26957	1.7	5.26	5.26	0.73747	.	0.075535	0.56097	D	0.000039	T	0.39759	0.1090	M	0.81682	2.555	0.80722	D	1	P	0.45011	0.848	P	0.45343	0.477	T	0.45804	-0.9236	10	0.72032	D	0.01	.	15.0066	0.71516	1.0:0.0:0.0:0.0	.	1593	Q8WXX0	DYH7_HUMAN	R	1593	ENSP00000311273:L1593R	ENSP00000311273:L1593R	L	-	2	0	DNAH7	196468063	0.999000	0.42202	1.000000	0.80357	0.935000	0.57460	9.139000	0.94554	2.218000	0.71995	0.533000	0.62120	CTT		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
HECW2	57520	broad.mit.edu	37	2	197066027	197066027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:197066027C>A	ENST00000260983.3	-	29	4875	c.4693G>T	c.(4693-4695)Gaa>Taa	p.E1565*	HECW2_ENST00000409111.1_Nonsense_Mutation_p.E1209*	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1565	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E1565*(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTACTGGTTTCTTCAACTGCT	0.443																																					p.E1565X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4693T	2						.						132.0	115.0	121.0					2																	197066027		2203	4300	6503	196774272	SO:0001587	stop_gained	57520	exon29			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4693G>T	2.37:g.197066027C>A	ENSP00000260983:p.Glu1565*		196774272	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Nonsense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	44	10.550735	0.99426	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.46336	D	0.998997	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4469	0.90688	0.0:1.0:0.0:0.0	.	.	.	.	X	1209;1565	.	ENSP00000260983:E1565X	E	-	1	0	HECW2	196774272	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.651000	0.83577	2.595000	0.87683	0.655000	0.94253	GAA		0.443	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
HECW2	57520	broad.mit.edu	37	2	197106879	197106879	+	Silent	SNP	G	G	A	rs146564746	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:197106879G>A	ENST00000260983.3	-	20	3761	c.3579C>T	c.(3577-3579)ttC>ttT	p.F1193F	HECW2_ENST00000409111.1_Silent_p.F837F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1193					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F1193F(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTTTGGCTTCGAAATCCCGCT	0.478																																					p.F1193F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3579T	2						.	G		1,4405	2.1+/-5.4	0,1,2202	161.0	161.0	161.0		3579	2.3	1.0	2	dbSNP_134	161	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	HECW2	NM_020760.1		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1193/1573	197106879	3,13003	2203	4300	6503	196815124	SO:0001819	synonymous_variant	57520	exon20			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3579C>T	2.37:g.197106879G>A			196815124	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	CCDS33354.1																																																																																				0.478	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
HECW2	57520	broad.mit.edu	37	2	197187215	197187215	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:197187215G>A	ENST00000260983.3	-	7	1053	c.871C>T	c.(871-873)Cga>Tga	p.R291*	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	291					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R291*(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGGCTTGTCGCTCCAGCAGC	0.428																																					p.R291X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C871T	2						.						96.0	97.0	97.0					2																	197187215		2203	4300	6503	196895460	SO:0001587	stop_gained	57520	exon7			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.871C>T	2.37:g.197187215G>A	ENSP00000260983:p.Arg291*		196895460	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Nonsense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	39	7.629644	0.98399	.	.	ENSG00000138411	ENST00000260983	.	.	.	5.49	3.65	0.41850	.	0.994123	0.08167	N	0.987547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4728	0.61290	0.0:0.0:0.4192:0.5808	.	.	.	.	X	291	.	ENSP00000260983:R291X	R	-	1	2	HECW2	196895460	1.000000	0.71417	0.920000	0.36463	0.951000	0.60555	2.480000	0.45206	0.832000	0.34804	0.650000	0.86243	CGA		0.428	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
HECW2	57520	broad.mit.edu	37	2	197298104	197298104	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:197298104C>T	ENST00000260983.3	-	2	226	c.44G>A	c.(43-45)cGa>cAa	p.R15Q		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	15					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R15Q(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGGGATTTCGACGCCTCAC	0.567																																					p.R15Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G44A	2						.						72.0	65.0	67.0					2																	197298104		2203	4300	6503	197006349	SO:0001583	missense	57520	exon2			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.44G>A	2.37:g.197298104C>T	ENSP00000260983:p.Arg15Gln		197006349	NM_020760	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989976	0.93106	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.36157	1.27;1.4;1.4	5.27	5.27	0.74061	.	0.266376	0.32231	N	0.006397	T	0.60392	0.2265	M	0.65975	2.015	0.58432	D	0.999999	D	0.76494	0.999	D	0.72625	0.978	T	0.62062	-0.6933	10	0.72032	D	0.01	.	19.0714	0.93138	0.0:1.0:0.0:0.0	.	15	Q9P2P5	HECW2_HUMAN	Q	15	ENSP00000260983:R15Q;ENSP00000409918:R15Q;ENSP00000395770:R15Q	ENSP00000260983:R15Q	R	-	2	0	HECW2	197006349	1.000000	0.71417	0.932000	0.37286	0.934000	0.57294	5.436000	0.66538	2.736000	0.93811	0.561000	0.74099	CGA		0.567	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
C2orf66	401027	broad.mit.edu	37	2	197673987	197673987	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:197673987C>A	ENST00000342506.2	-	1	1013	c.125G>T	c.(124-126)aGa>aTa	p.R42I		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	42						extracellular region (GO:0005576)		p.R42I(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						GTCCTCATTTCTTACTGTGGC	0.502																																					p.R42I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G125T	2						.						248.0	224.0	232.0					2																	197673987		2203	4300	6503	197382232	SO:0001583	missense	401027	exon1				CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.125G>T	2.37:g.197673987C>A	ENSP00000339384:p.Arg42Ile		197382232	NM_213608	B2RNW3	Missense_Mutation	SNP	ENST00000342506.2	37	CCDS2317.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854988	0.32791	.	.	ENSG00000187944	ENST00000342506	.	.	.	4.42	3.51	0.40186	.	0.389215	0.22115	N	0.064434	T	0.37544	0.1007	L	0.29908	0.895	0.09310	N	1	D	0.64830	0.994	P	0.56700	0.804	T	0.09271	-1.0682	9	0.72032	D	0.01	0.7758	8.7919	0.34857	0.0:0.8261:0.0:0.1739	.	42	Q6UXQ4	CB066_HUMAN	I	42	.	ENSP00000339384:R42I	R	-	2	0	C2orf66	197382232	0.249000	0.23941	0.869000	0.34112	0.015000	0.08874	1.375000	0.34295	2.289000	0.77006	0.655000	0.94253	AGA		0.502	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	NM_213608	
SF3B1	23451	broad.mit.edu	37	2	198262756	198262756	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:198262756A>C	ENST00000335508.6	-	22	3310	c.3219T>G	c.(3217-3219)atT>atG	p.I1073M		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1073					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.I1073M(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGGCTCTACGAATAGCCTTTT	0.343			Mis		myelodysplastic syndrome																																p.I1073M			Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3219G	2						.						101.0	103.0	102.0					2																	198262756		2203	4300	6503	197971001	SO:0001583	missense	23451	exon22			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.3219T>G	2.37:g.198262756A>C	ENSP00000335321:p.Ile1073Met		197971001	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.54|17.54	3.414457|3.414457	0.62511|0.62511	.|.	.|.	ENSG00000115524|ENSG00000115524	ENST00000424674|ENST00000335508	.|T	.|0.68479	.|-0.33	5.21|5.21	1.55|1.55	0.23275|0.23275	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83478|0.83478	0.5263|0.5263	M|M	0.94101|0.94101	3.495|3.495	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.76575	.|0.988	D|D	0.84650|0.84650	0.0700|0.0700	5|10	.|0.87932	.|D	.|0	.|.	10.2023|10.2023	0.43092|0.43092	0.7199:0.0:0.2801:0.0|0.7199:0.0:0.2801:0.0	.|.	.|1073	.|O75533	.|SF3B1_HUMAN	C|M	89|1073	.|ENSP00000335321:I1073M	.|ENSP00000335321:I1073M	F|I	-|-	2|3	0|3	SF3B1|SF3B1	197971001|197971001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.616000|2.616000	0.46376|0.46376	0.448000|0.448000	0.26722|0.26722	0.459000|0.459000	0.35465|0.35465	TTC|ATT		0.343	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
SF3B1	23451	broad.mit.edu	37	2	198270162	198270162	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:198270162C>T	ENST00000335508.6	-	10	1365	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	425	Interaction with PPP1R8.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.R425Q(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCTGGAGTTCGAATAGGAAC	0.373			Mis		myelodysplastic syndrome																																p.R425Q			Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1274A	2						.						44.0	42.0	43.0					2																	198270162		2203	4300	6503	197978407	SO:0001583	missense	23451	exon10			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1274G>A	2.37:g.198270162C>T	ENSP00000335321:p.Arg425Gln		197978407	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.484032	0.96307	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.66	5.66	0.87406	Splicing factor 3B subunit 1 (1);	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.88640	2.97	0.80722	D	1	P	0.48503	0.911	P	0.46940	0.532	T	0.79160	-0.1918	9	0.49607	T	0.09	.	20.115	0.97926	0.0:1.0:0.0:0.0	.	425	O75533	SF3B1_HUMAN	Q	425	.	ENSP00000335321:R425Q	R	-	2	0	SF3B1	197978407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.665000	0.83852	2.827000	0.97445	0.655000	0.94253	CGA		0.373	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
MOB4	25843	broad.mit.edu	37	2	198388366	198388366	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:198388366G>A	ENST00000323303.4	+	2	334	c.79G>A	c.(79-81)Gat>Aat	p.D27N	MOB4_ENST00000497443.1_Intron|MOB4_ENST00000448447.2_Intron|MOB4_ENST00000409916.1_Intron|MOB4_ENST00000409360.1_De_novo_Start_OutOfFrame|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.D63N|MOB4_ENST00000233892.4_De_novo_Start_OutOfFrame	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	27					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										TAATTGGCCTGATGAATCCTT	0.323																																					p.D27N												.	.	0			c.G79A	2						.						94.0	101.0	99.0					2																	198388366		2203	4300	6503	198096611	SO:0001583	missense	25843	exon2			AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.79G>A	2.37:g.198388366G>A	ENSP00000315702:p.Asp27Asn		198096611	NM_015387	B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794339	0.90453	.	.	ENSG00000115540	ENST00000323303	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	M	0.62723	1.935	0.80722	D	1	B	0.21688	0.059	B	0.17979	0.02	T	0.57406	-0.7817	9	0.23891	T	0.37	.	17.9306	0.88996	0.0:0.0:1.0:0.0	.	27	Q9Y3A3	PHOCN_HUMAN	N	27	.	ENSP00000315702:D27N	D	+	1	0	PHOCN	198096611	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.605000	0.82844	2.340000	0.79590	0.591000	0.81541	GAT		0.323	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387	
PLCL1	5334	broad.mit.edu	37	2	198949646	198949646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:198949646C>T	ENST00000428675.1	+	2	1803	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.R371*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	469	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R371*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGTTTCCTTTCGAAGTGTCAT	0.408																																					p.R469X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1405T	2						.						52.0	51.0	51.0					2																	198949646		2203	4300	6503	198657891	SO:0001587	stop_gained	5334	exon2			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1405C>T	2.37:g.198949646C>T	ENSP00000402861:p.Arg469*		198657891	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Nonsense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	37	6.339434	0.97489	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	.	.	.	5.94	5.05	0.67936	.	0.650704	0.14405	N	0.321604	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9567	0.86261	0.0:0.8722:0.1278:0.0	.	.	.	.	X	469;371	.	.	R	+	1	2	PLCL1	198657891	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	4.938000	0.63519	1.486000	0.48398	0.561000	0.74099	CGA		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
WDR35	57539	broad.mit.edu	37	2	20113908	20113908	+	Missense_Mutation	SNP	C	C	A	rs182360785		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:20113908C>A	ENST00000345530.3	-	27	3400	c.3285G>T	c.(3283-3285)gaG>gaT	p.E1095D	WDR35_ENST00000281405.4_Missense_Mutation_p.E1084D|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1095					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.E1095D(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTGAGGGTCTCTAAAGATT	0.428																																					p.E1095D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3285T	2						.						115.0	117.0	116.0					2																	20113908		2203	4300	6503	19977389	SO:0001583	missense	57539	exon27			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3285G>T	2.37:g.20113908C>A	ENSP00000314444:p.Glu1095Asp		19977389	NM_001006657	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	8.134	0.783731	0.16189	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.66280	-0.2;-0.2	5.32	2.51	0.30379	.	0.145164	0.64402	N	0.000010	T	0.45478	0.1344	L	0.39514	1.22	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.002	T	0.16512	-1.0400	10	0.19590	T	0.45	-10.7439	5.1884	0.15197	0.1293:0.4851:0.305:0.0805	.	1084;1095	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	D	1095;1084	ENSP00000314444:E1095D;ENSP00000281405:E1084D	ENSP00000281405:E1084D	E	-	3	2	WDR35	19977389	0.968000	0.33430	0.934000	0.37439	0.714000	0.41099	0.552000	0.23376	0.308000	0.22923	-0.211000	0.12701	GAG		0.428	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779	
MATN3	4148	broad.mit.edu	37	2	20200215	20200215	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:20200215T>A	ENST00000407540.3	-	5	1217	c.1155A>T	c.(1153-1155)aaA>aaT	p.K385N	MATN3_ENST00000421259.2_Missense_Mutation_p.K343N|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	385	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.K385N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACATGTTTTTTTATCTGCAT	0.413																																					p.K385N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1155T	2						.						74.0	70.0	72.0					2																	20200215		1848	4102	5950	20063696	SO:0001583	missense	4148	exon5			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.1155A>T	2.37:g.20200215T>A	ENSP00000383894:p.Lys385Asn		20063696	NM_002381	B2CPU0|Q4ZG02	Missense_Mutation	SNP	ENST00000407540.3	37	CCDS46226.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533048	0.45073	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.96232	-3.95;-3.95	5.72	-8.51	0.00923	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.407810	0.25172	N	0.032589	D	0.87826	0.6275	N	0.25647	0.755	0.30655	N	0.755049	B;B	0.11235	0.001;0.004	B;B	0.08055	0.002;0.003	T	0.74426	-0.3669	10	0.22109	T	0.4	-9.8862	7.4267	0.27102	0.1009:0.5962:0.1996:0.1033	.	343;385	B2CPU0;O15232	.;MATN3_HUMAN	N	385;343	ENSP00000383894:K385N;ENSP00000398753:K343N	ENSP00000383894:K385N	K	-	3	2	MATN3	20063696	0.012000	0.17670	0.422000	0.26621	0.953000	0.61014	-0.851000	0.04313	-1.376000	0.02126	-1.149000	0.01842	AAA		0.413	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1	NM_002381	
PLCL1	5334	broad.mit.edu	37	2	198953768	198953768	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:198953768C>T	ENST00000428675.1	+	3	3300	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	PLCL1_ENST00000437704.2_Silent_p.L870L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	968					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.L870L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAAAAGATGCTGACTGCTTA	0.443																																					p.L968L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2902T	2						.						119.0	124.0	122.0					2																	198953768		2203	4300	6503	198662013	SO:0001819	synonymous_variant	5334	exon3			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2902C>T	2.37:g.198953768C>T			198662013	NM_006226	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	CCDS2326.2																																																																																				0.443	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
FAM126B	285172	broad.mit.edu	37	2	201846224	201846224	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:201846224A>G	ENST00000418596.3	-	12	1549	c.1362T>C	c.(1360-1362)agT>agC	p.S454S	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	454						intracellular (GO:0005622)		p.S454S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CAAATGATTTACTTGAGGAAG	0.463																																					p.S454S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1362C	2						.						102.0	85.0	91.0					2																	201846224		2203	4300	6503	201554469	SO:0001819	synonymous_variant	285172	exon12			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1362T>C	2.37:g.201846224A>G			201554469	NM_173822	B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	CCDS2335.1																																																																																				0.463	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	
TRAK2	66008	broad.mit.edu	37	2	202263032	202263032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:202263032G>A	ENST00000332624.3	-	6	954	c.526C>T	c.(526-528)Cga>Tga	p.R176*	TRAK2_ENST00000430254.1_Nonsense_Mutation_p.R176*	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	176	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.R176*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGACGATTCGAAGTAACTCA	0.383																																					p.R176X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C526T	2						.						104.0	97.0	100.0					2																	202263032		2203	4300	6503	201971277	SO:0001587	stop_gained	66008	exon6			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.526C>T	2.37:g.202263032G>A	ENSP00000328875:p.Arg176*		201971277	NM_015049	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Nonsense_Mutation	SNP	ENST00000332624.3	37	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	G	40	8.075624	0.98640	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	14.7862	0.69806	0.0:0.0:0.8557:0.1443	.	.	.	.	X	176;82;176	.	ENSP00000328875:R176X	R	-	1	2	TRAK2	201971277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.912000	0.69948	2.786000	0.95864	0.563000	0.77884	CGA		0.383	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	
ALS2	57679	broad.mit.edu	37	2	202603447	202603447	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:202603447G>T	ENST00000264276.6	-	12	2735	c.2363C>A	c.(2362-2364)tCt>tAt	p.S788Y	ALS2_ENST00000457679.2_Missense_Mutation_p.S100Y	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	788	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.S788Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ATTTGTAATAGATGTGCAATA	0.378																																					p.S788Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2363A	2						.						92.0	89.0	90.0					2																	202603447		1868	4104	5972	202311692	SO:0001583	missense	57679	exon12			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2363C>A	2.37:g.202603447G>T	ENSP00000264276:p.Ser788Tyr		202311692	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323265	0.81580	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.63744	-0.06;-0.06	4.93	4.93	0.64822	Dbl homology (DH) domain (4);	0.124305	0.56097	D	0.000030	T	0.68403	0.2997	L	0.27053	0.805	0.52501	D	0.999957	D;P	0.58970	0.984;0.744	D;P	0.63381	0.914;0.828	T	0.72503	-0.4273	10	0.87932	D	0	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	788;788	Q6IQ41;Q96Q42	.;ALS2_HUMAN	Y	788;100	ENSP00000264276:S788Y;ENSP00000394823:S100Y	ENSP00000264276:S788Y	S	-	2	0	ALS2	202311692	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.672000	0.74477	2.724000	0.93272	0.650000	0.86243	TCT		0.378	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
ALS2	57679	broad.mit.edu	37	2	202622227	202622227	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:202622227C>T	ENST00000264276.6	-	5	1741	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	457					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.E457K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGCATTGATTCCTGTTTAACC	0.463																																					p.E457K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1369A	2						.						257.0	235.0	242.0					2																	202622227		1878	4102	5980	202330472	SO:0001583	missense	57679	exon5			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1369G>A	2.37:g.202622227C>T	ENSP00000264276:p.Glu457Lys		202330472	NM_020919	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096399	0.94197	.	.	ENSG00000003393	ENST00000264276	T	0.56941	0.43	5.75	5.75	0.90469	.	0.166220	0.53938	D	0.000060	T	0.61702	0.2368	L	0.29908	0.895	0.80722	D	1	D;P;D	0.71674	0.998;0.726;0.966	D;B;P	0.80764	0.994;0.132;0.477	T	0.52449	-0.8574	10	0.15066	T	0.55	.	19.9434	0.97174	0.0:1.0:0.0:0.0	.	457;457;457	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	K	457	ENSP00000264276:E457K	ENSP00000264276:E457K	E	-	1	0	ALS2	202330472	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.924000	0.75823	2.710000	0.92621	0.563000	0.77884	GAA		0.463	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919	
BMPR2	659	broad.mit.edu	37	2	203420898	203420898	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:203420898A>G	ENST00000374580.4	+	12	3049	c.2510A>G	c.(2509-2511)aAc>aGc	p.N837S	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	837					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.N837S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAAACAACCAACATAGTGACA	0.463																																					p.N837S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2510G	2						.						108.0	100.0	102.0					2																	203420898		2203	4300	6503	203129143	SO:0001583	missense	659	exon12			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2510A>G	2.37:g.203420898A>G	ENSP00000363708:p.Asn837Ser		203129143	NM_001204	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326244	0.24080	.	.	ENSG00000204217	ENST00000374580	D	0.88509	-2.39	6.17	3.81	0.43845	.	0.301618	0.45867	N	0.000334	T	0.76414	0.3984	N	0.12182	0.205	0.30797	N	0.740243	B	0.02656	0.0	B	0.01281	0.0	T	0.68872	-0.5294	10	0.26408	T	0.33	.	8.7381	0.34541	0.7588:0.0:0.2412:0.0	.	837	Q13873	BMPR2_HUMAN	S	837	ENSP00000363708:N837S	ENSP00000363708:N837S	N	+	2	0	BMPR2	203129143	0.809000	0.29036	1.000000	0.80357	0.989000	0.77384	2.428000	0.44749	1.166000	0.42689	0.533000	0.62120	AAC		0.463	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204	
NBEAL1	65065	broad.mit.edu	37	2	204039964	204039964	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:204039964C>T	ENST00000449802.1	+	41	6664	c.6331C>T	c.(6331-6333)Cgt>Tgt	p.R2111C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2111	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.							p.R821C(1)|p.R2111C(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTATCTCATTCGTGTAGAACC	0.378																																					p.R2111C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6331T	2						.						101.0	100.0	101.0					2																	204039964		1873	4093	5966	203748209	SO:0001583	missense	65065	exon41			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6331C>T	2.37:g.204039964C>T	ENSP00000399903:p.Arg2111Cys		203748209	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396262	0.83011	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	D;D	0.86432	-2.12;-2.12	5.92	5.92	0.95590	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.96228	0.8770	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96966	0.9705	10	0.87932	D	0	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	2111;2100	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	C	2111;2111;126	ENSP00000399903:R2111C;ENSP00000388466:R126C	ENSP00000344985:R2111C	R	+	1	0	NBEAL1	203748209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.529000	0.53532	2.794000	0.96219	0.650000	0.86243	CGT		0.378	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
RAPH1	65059	broad.mit.edu	37	2	204354452	204354452	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:204354452A>G	ENST00000319170.5	-	4	886	c.587T>C	c.(586-588)gTg>gCg	p.V196A	RAPH1_ENST00000453034.1_Missense_Mutation_p.V196A|RAPH1_ENST00000419464.1_Missense_Mutation_p.V196A|RAPH1_ENST00000418114.1_Missense_Mutation_p.V196A|RAPH1_ENST00000374488.2_Missense_Mutation_p.V196A|RAPH1_ENST00000374489.2_Missense_Mutation_p.V196A|RAPH1_ENST00000439222.1_Missense_Mutation_p.V196A|RAPH1_ENST00000423104.1_Missense_Mutation_p.V196A|RAPH1_ENST00000308091.4_Missense_Mutation_p.V196A|RAPH1_ENST00000374493.3_Missense_Mutation_p.V196A|RAPH1_ENST00000457812.1_Missense_Mutation_p.V196A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	196					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.V196A(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCATCACTCACTGTGCCTGC	0.458																																					p.V196A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T587C	2						.						138.0	128.0	131.0					2																	204354452		2203	4300	6503	204062697	SO:0001583	missense	65059	exon4			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.587T>C	2.37:g.204354452A>G	ENSP00000316543:p.Val196Ala		204062697	NM_203365	Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062801	0.76187	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.61392	0.47;0.48;0.11;0.53;0.51;0.14;0.51;0.47;0.53;0.14;0.47	5.59	5.59	0.84812	.	0.000000	0.41938	D	0.000796	T	0.71392	0.3334	L	0.55481	1.735	0.52099	D	0.999943	D;P;P	0.76494	0.999;0.649;0.944	D;B;B	0.80764	0.994;0.259;0.437	T	0.70691	-0.4802	10	0.40728	T	0.16	-14.1602	15.7757	0.78214	1.0:0.0:0.0:0.0	.	196;196;196	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	A	196	ENSP00000392854:V196A;ENSP00000316543:V196A;ENSP00000363617:V196A;ENSP00000363613:V196A;ENSP00000363612:V196A;ENSP00000311293:V196A;ENSP00000411138:V196A;ENSP00000390578:V196A;ENSP00000397751:V196A;ENSP00000406662:V196A;ENSP00000396711:V196A	ENSP00000311293:V196A	V	-	2	0	RAPH1	204062697	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.088000	0.71371	2.111000	0.64477	0.528000	0.53228	GTG		0.458	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252	
CD28	940	broad.mit.edu	37	2	204591381	204591381	+	Silent	SNP	G	G	A	rs199844145		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:204591381G>A	ENST00000324106.8	+	2	227	c.78G>A	c.(76-78)tcG>tcA	p.S26S	CD28_ENST00000374481.3_Silent_p.S26S|CD28_ENST00000374478.4_Intron|CD28_ENST00000458610.2_Silent_p.S40S	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	26					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)	p.S26S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						TGAAGCAGTCGCCCATGCTTG	0.413																																					p.S26S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G78A	2						.	G		0,4406		0,0,2203	85.0	81.0	82.0		78	-4.3	0.9	2		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CD28	NM_006139.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		26/221	204591381	1,13005	2203	4300	6503	204299626	SO:0001819	synonymous_variant	940	exon2			J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.78G>A	2.37:g.204591381G>A			204299626	NM_006139	A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Silent	SNP	ENST00000324106.8	37	CCDS2361.1																																																																																				0.413	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139	
CD28	940	broad.mit.edu	37	2	204599617	204599617	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:204599617C>T	ENST00000324106.8	+	4	794	c.645C>T	c.(643-645)ttC>ttT	p.F215F	CD28_ENST00000374481.3_Silent_p.F131F|CD28_ENST00000374478.4_Silent_p.F96F|CD28_ENST00000458610.2_Silent_p.F229F	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	215					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)	p.F215F(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CACGCGACTTCGCAGCCTATC	0.617																																					p.F215F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C645T	2						.						56.0	60.0	59.0					2																	204599617		2203	4300	6503	204307862	SO:0001819	synonymous_variant	940	exon4			J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.645C>T	2.37:g.204599617C>T			204307862	NM_006139	A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Silent	SNP	ENST00000324106.8	37	CCDS2361.1																																																																																				0.617	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139	
PARD3B	117583	broad.mit.edu	37	2	206166411	206166411	+	Silent	SNP	C	C	T	rs200865870		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:206166411C>T	ENST00000406610.2	+	18	2823	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	PARD3B_ENST00000358768.2_Silent_p.F810F|PARD3B_ENST00000349953.3_Silent_p.F872F|PARD3B_ENST00000462231.1_Silent_p.F872F|PARD3B_ENST00000351153.1_Silent_p.F803F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	872	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.F811F(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		agaaggGCTTCGGCGCCATGC	0.428													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19642	0.0		0.0	False		,,,				2504	0.0				p.F803F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2409T	2						.						50.0	50.0	50.0					2																	206166411		1872	4100	5972	205874656	SO:0001819	synonymous_variant	117583	exon17			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2616C>T	2.37:g.206166411C>T			205874656	NM_057177	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37																																																																																					0.428	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177	
NDUFS1	4719	broad.mit.edu	37	2	206991490	206991490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:206991490G>A	ENST00000233190.6	-	17	2229	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	NDUFS1_ENST00000455934.2_Nonsense_Mutation_p.R669*|NDUFS1_ENST00000440274.1_Nonsense_Mutation_p.R619*|NDUFS1_ENST00000432169.1_Nonsense_Mutation_p.R544*|NDUFS1_ENST00000423725.1_Nonsense_Mutation_p.R598*|NDUFS1_ENST00000457011.1_Nonsense_Mutation_p.R539*|NDUFS1_ENST00000449699.1_Nonsense_Mutation_p.R655*	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	655					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R655*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCATCATATCGAACAAGATTA	0.403																																					p.R655X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1963T	2						.						155.0	154.0	154.0					2																	206991490		2203	4300	6503	206699735	SO:0001587	stop_gained	4719	exon17				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1963C>T	2.37:g.206991490G>A	ENSP00000233190:p.Arg655*		206699735	NM_005006	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Nonsense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	G	38	6.646904	0.97730	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	.	.	.	5.8	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7987	14.2662	0.66121	0.0:0.0:0.7103:0.2897	.	.	.	.	X	655;598;539;619;669;655;544	.	ENSP00000233190:R655X	R	-	1	2	NDUFS1	206699735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.299000	0.59073	1.393000	0.46605	0.650000	0.86243	CGA		0.403	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006	
NDUFS1	4719	broad.mit.edu	37	2	207007511	207007511	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:207007511G>A	ENST00000233190.6	-	11	1298	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	NDUFS1_ENST00000455934.2_Silent_p.G358G|NDUFS1_ENST00000440274.1_Silent_p.G308G|NDUFS1_ENST00000432169.1_Silent_p.G233G|NDUFS1_ENST00000423725.1_Silent_p.G287G|NDUFS1_ENST00000457011.1_Silent_p.G228G|NDUFS1_ENST00000449699.1_Silent_p.G344G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	344					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATCCACCAAGCCACCTGCAA	0.483																																					p.G344G												.	.	0			c.C1032T	2						.						72.0	69.0	70.0					2																	207007511		2203	4300	6503	206715756	SO:0001819	synonymous_variant	4719	exon11				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1032C>T	2.37:g.207007511G>A			206715756	NM_005006	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	CCDS2366.1																																																																																				0.483	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006	
ZDBF2	57683	broad.mit.edu	37	2	207172324	207172324	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:207172324G>A	ENST00000374423.3	+	5	3458	c.3072G>A	c.(3070-3072)aaG>aaA	p.K1024K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1024							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K1024K(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAAACAGAAAGAAGCAATATG	0.343																																					p.K1024K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3072A	2						.						64.0	61.0	62.0					2																	207172324		1836	4079	5915	206880569	SO:0001819	synonymous_variant	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3072G>A	2.37:g.207172324G>A			206880569	NM_020923	Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	CCDS46501.1																																																																																				0.343	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207173138	207173138	+	Missense_Mutation	SNP	G	G	A	rs190838042		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:207173138G>A	ENST00000374423.3	+	5	4272	c.3886G>A	c.(3886-3888)Gta>Ata	p.V1296I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1296							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V1296I(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTCAGTCCGTAACTAATAA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		19220	0.0		0.001	False		,,,				2504	0.0				p.V1296I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3886A	2						.						27.0	27.0	27.0					2																	207173138		1801	4066	5867	206881383	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3886G>A	2.37:g.207173138G>A	ENSP00000363545:p.Val1296Ile		206881383	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	4.891	0.165682	0.09339	.	.	ENSG00000204186	ENST00000374423	T	0.59224	0.28	4.12	1.29	0.21616	.	.	.	.	.	T	0.43100	0.1232	L	0.50333	1.59	0.09310	N	1	P	0.35272	0.493	B	0.29598	0.104	T	0.25950	-1.0117	9	0.38643	T	0.18	.	4.2338	0.10616	0.2105:0.1906:0.5989:0.0	.	1296	Q9HCK1	ZDBF2_HUMAN	I	1296	ENSP00000363545:V1296I	ENSP00000363545:V1296I	V	+	1	0	ZDBF2	206881383	0.104000	0.21937	0.073000	0.20177	0.002000	0.02628	0.770000	0.26618	0.272000	0.22027	-0.143000	0.13931	GTA		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207173597	207173597	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:207173597G>A	ENST00000374423.3	+	5	4731	c.4345G>A	c.(4345-4347)Gtc>Atc	p.V1449I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1449							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V1449I(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAACTGTGAAGTCTGTGGTTC	0.363																																					p.V1449I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4345A	2						.						52.0	51.0	51.0					2																	207173597		1845	4096	5941	206881842	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4345G>A	2.37:g.207173597G>A	ENSP00000363545:p.Val1449Ile		206881842	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.636914	0.00806	.	.	ENSG00000204186	ENST00000374423	T	0.44482	0.92	3.44	-6.88	0.01665	.	.	.	.	.	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16660	-1.0395	9	0.21014	T	0.42	.	0.9846	0.01443	0.2271:0.1993:0.1161:0.4575	.	1449	Q9HCK1	ZDBF2_HUMAN	I	1449	ENSP00000363545:V1449I	ENSP00000363545:V1449I	V	+	1	0	ZDBF2	206881842	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.166000	0.03129	-2.018000	0.00943	-1.951000	0.00486	GTC		0.363	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
ZDBF2	57683	broad.mit.edu	37	2	207174219	207174219	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:207174219A>C	ENST00000374423.3	+	5	5353	c.4967A>C	c.(4966-4968)aAg>aCg	p.K1656T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1656							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K1656T(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAGAAGATAAGAGCTGTGGA	0.378																																					p.K1656T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4967C	2						.						76.0	78.0	78.0					2																	207174219		1848	4087	5935	206882464	SO:0001583	missense	57683	exon5			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4967A>C	2.37:g.207174219A>C	ENSP00000363545:p.Lys1656Thr		206882464	NM_020923	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.451728	0.26074	.	.	ENSG00000204186	ENST00000374423	T	0.57107	0.42	4.07	0.423	0.16463	.	.	.	.	.	T	0.42810	0.1219	L	0.50333	1.59	0.09310	N	1	P	0.41313	0.745	B	0.38562	0.276	T	0.32134	-0.9918	9	0.72032	D	0.01	.	5.976	0.19379	0.6666:0.0:0.3334:0.0	.	1656	Q9HCK1	ZDBF2_HUMAN	T	1656	ENSP00000363545:K1656T	ENSP00000363545:K1656T	K	+	2	0	ZDBF2	206882464	0.018000	0.18449	0.001000	0.08648	0.010000	0.07245	0.387000	0.20718	0.073000	0.16731	0.533000	0.62120	AAG		0.378	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
DYTN	391475	broad.mit.edu	37	2	207527989	207527989	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:207527989G>A	ENST00000452335.2	-	11	1387	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	424						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.A424V(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCCTGTTGAAGCATCTTCAGT	0.448																																					p.A424V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1271T	2						.						143.0	132.0	136.0					2																	207527989		1947	4145	6092	207236234	SO:0001583	missense	391475	exon11			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1271C>T	2.37:g.207527989G>A	ENSP00000396593:p.Ala424Val		207236234	NM_001093730		Missense_Mutation	SNP	ENST00000452335.2	37	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446890	0.25987	.	.	ENSG00000232125	ENST00000452335	T	0.15256	2.44	5.02	1.18	0.20946	.	.	.	.	.	T	0.08582	0.0213	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.18263	0.021	T	0.36529	-0.9744	9	0.29301	T	0.29	-0.0439	5.7197	0.17980	0.0:0.5192:0.3095:0.1713	.	424	A2CJ06	DYTN_HUMAN	V	424	ENSP00000396593:A424V	ENSP00000396593:A424V	A	-	2	0	DYTN	207236234	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.004000	0.12878	0.111000	0.17947	-0.153000	0.13522	GCT		0.448	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
CREB1	1385	broad.mit.edu	37	2	208461732	208461732	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:208461732A>G	ENST00000432329.2	+	9	1227	c.976A>G	c.(976-978)Att>Gtt	p.I326V	METTL21A_ENST00000458426.1_Intron|CREB1_ENST00000430624.1_Missense_Mutation_p.I312V|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000432416.1_Intron|CREB1_ENST00000353267.3_Missense_Mutation_p.I312V|CREB1_ENST00000374397.4_Missense_Mutation_p.I215V	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	326	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.I326V(1)	EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	CAAGACATTGATTGAGGAGCT	0.383			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																p.I326V			Dom	yes		2	2q34	1385	cAMP responsive element binding protein 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A976G	2						.						103.0	105.0	104.0					2																	208461732		2203	4300	6503	208169977	SO:0001583	missense	1385	exon9			M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.976A>G	2.37:g.208461732A>G	ENSP00000387699:p.Ile326Val		208169977	NM_134442	P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	ENST00000432329.2	37	CCDS2375.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168576	0.78339	.	.	ENSG00000118260	ENST00000430624;ENST00000236996;ENST00000432329;ENST00000353267;ENST00000374397	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.98	5.98	0.97165	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.66297	2.02	0.80722	D	1	D;D	0.63880	0.993;0.958	D;D	0.76071	0.987;0.97	T	0.74006	-0.3803	10	0.87932	D	0	-16.5159	15.6389	0.76981	1.0:0.0:0.0:0.0	.	312;326	Q53X93;P16220	.;CREB1_HUMAN	V	312;36;326;312;215	ENSP00000405539:I312V;ENSP00000387699:I326V;ENSP00000236995:I312V;ENSP00000363518:I215V	ENSP00000236996:I36V	I	+	1	0	CREB1	208169977	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.287000	0.95975	2.288000	0.76882	0.482000	0.46254	ATT		0.383	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442	
METTL21A	151194	broad.mit.edu	37	2	208477906	208477906	+	Missense_Mutation	SNP	C	C	T	rs200515055	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:208477906C>T	ENST00000411432.1	-	4	737	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	METTL21A_ENST00000426075.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000406927.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000448007.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000442521.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000272839.3_Missense_Mutation_p.R192Q	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	174					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.R174Q(2)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						ATAGCGAATTCGGCATGCTAA	0.383													C|||	2	0.000399361	0.0	0.0029	5008	,	,		22019	0.0		0.0	False		,,,				2504	0.0				p.R174Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G521A	2						.						150.0	150.0	150.0					2																	208477906		2203	4300	6503	208186151	SO:0001583	missense	151194	exon4			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.521G>A	2.37:g.208477906C>T	ENSP00000415115:p.Arg174Gln		208186151	NM_001127395	Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023262	0.93462	.	.	ENSG00000144401	ENST00000411432;ENST00000448007;ENST00000272839;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23	5.36	5.36	0.76844	.	0.163700	0.52532	D	0.000069	T	0.18173	0.0436	L	0.39692	1.235	0.54753	D	0.999983	D	0.69078	0.997	P	0.58077	0.832	T	0.00587	-1.1657	10	0.31617	T	0.26	-10.1001	19.2753	0.94029	0.0:1.0:0.0:0.0	.	174	Q8WXB1	MT21A_HUMAN	Q	174;174;192;174;174;174	ENSP00000415115:R174Q;ENSP00000407622:R174Q;ENSP00000272839:R192Q;ENSP00000385481:R174Q;ENSP00000403317:R174Q;ENSP00000392062:R174Q	ENSP00000272839:R192Q	R	-	2	0	METTL21A	208186151	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.581000	0.67471	2.797000	0.96272	0.561000	0.74099	CGA		0.383	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280	
CRYGB	1419	broad.mit.edu	37	2	209007426	209007426	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:209007426A>G	ENST00000260988.4	-	3	511	c.464T>C	c.(463-465)tTt>tCt	p.F155S		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	155	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.F155S(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCAATCAAGAAACCTCCTGTA	0.488																																					p.F155S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T464C	2						.						83.0	86.0	85.0					2																	209007426		2203	4300	6503	208715671	SO:0001583	missense	1419	exon3				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.464T>C	2.37:g.209007426A>G	ENSP00000260988:p.Phe155Ser		208715671	NM_005210	Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	CCDS2380.1	.	.	.	.	.	.	.	.	.	.	A	7.006	0.555771	0.13436	.	.	ENSG00000182187	ENST00000260988	T	0.76839	-1.05	4.73	2.24	0.28232	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.306654	0.35903	N	0.002907	T	0.74635	0.3742	M	0.78049	2.395	0.09310	N	1	B	0.21753	0.06	B	0.26094	0.066	T	0.63752	-0.6566	10	0.36615	T	0.2	.	8.1175	0.30953	0.5107:0.0:0.0:0.4893	.	155	P07316	CRGB_HUMAN	S	155	ENSP00000260988:F155S	ENSP00000260988:F155S	F	-	2	0	CRYGB	208715671	0.017000	0.18338	0.387000	0.26183	0.429000	0.31625	0.569000	0.23638	0.356000	0.24157	-0.527000	0.04329	TTT		0.488	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210	
PIKFYVE	200576	broad.mit.edu	37	2	209209849	209209849	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:209209849G>A	ENST00000264380.4	+	33	5200	c.5042G>A	c.(5041-5043)cGa>cAa	p.R1681Q		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1681					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.R1681Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAAGAATACCGAAATGCCTTA	0.338																																					p.R1681Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5042A	2						.						62.0	64.0	63.0					2																	209209849		2203	4300	6503	208918094	SO:0001583	missense	200576	exon33			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5042G>A	2.37:g.209209849G>A	ENSP00000264380:p.Arg1681Gln		208918094	NM_015040	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365149	0.41902	.	.	ENSG00000115020	ENST00000264380	T	0.27256	1.68	5.22	4.14	0.48551	.	0.140871	0.46758	D	0.000265	T	0.14056	0.0340	N	0.22421	0.69	0.80722	D	1	B	0.32781	0.384	B	0.22152	0.038	T	0.09292	-1.0681	10	0.22109	T	0.4	-9.4928	11.2345	0.48931	0.1587:0.0:0.8413:0.0	.	1681	Q9Y2I7	FYV1_HUMAN	Q	1681	ENSP00000264380:R1681Q	ENSP00000264380:R1681Q	R	+	2	0	PIKFYVE	208918094	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.650000	0.61440	2.432000	0.82394	0.585000	0.79938	CGA		0.338	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
MAP2	4133	broad.mit.edu	37	2	210560639	210560639	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:210560639C>T	ENST00000360351.4	+	7	4251	c.3745C>T	c.(3745-3747)Ctc>Ttc	p.L1249F	MAP2_ENST00000447185.1_Missense_Mutation_p.L1245F|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1249					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.L1249F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGATAAACTGCTCTTCCGCTC	0.483																																					p.L1249F	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3745T	2						.						90.0	94.0	92.0					2																	210560639		2203	4300	6503	210268884	SO:0001583	missense	4133	exon7				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3745C>T	2.37:g.210560639C>T	ENSP00000353508:p.Leu1249Phe		210268884	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076390	0.55753	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.27890	1.64;1.64	5.66	5.66	0.87406	MAP2/Tau projection (1);	0.000000	0.52532	D	0.000063	T	0.52693	0.1750	L	0.56769	1.78	0.39274	D	0.964448	D;D	0.69078	0.996;0.997	P;D	0.65874	0.9;0.939	T	0.49093	-0.8975	10	0.44086	T	0.13	-9.5835	19.7531	0.96277	0.0:1.0:0.0:0.0	.	1245;1249	P11137-3;P11137	.;MAP2_HUMAN	F	1249;1245	ENSP00000353508:L1249F;ENSP00000392164:L1245F	ENSP00000353508:L1249F	L	+	1	0	MAP2	210268884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.574000	0.53863	2.684000	0.91462	0.650000	0.86243	CTC		0.483	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MAP2	4133	broad.mit.edu	37	2	210561349	210561349	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:210561349C>T	ENST00000360351.4	+	8	4770	c.4264C>T	c.(4264-4266)Ctt>Ttt	p.L1422F	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.L1418F|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1422					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.L1422F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAGATCATCTCTTGAGAAACA	0.403																																					p.L1422F	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4264T	2						.						66.0	72.0	70.0					2																	210561349		2203	4299	6502	210269594	SO:0001583	missense	4133	exon8				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4264C>T	2.37:g.210561349C>T	ENSP00000353508:p.Leu1422Phe		210269594	NM_002374	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775045	0.49786	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.27890	1.64;1.64	5.46	5.46	0.80206	MAP2/Tau projection (1);	0.000000	0.52532	D	0.000077	T	0.50939	0.1645	L	0.56769	1.78	0.40914	D	0.984257	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.981	T	0.49570	-0.8926	10	0.51188	T	0.08	-12.1243	14.1855	0.65603	0.1495:0.8505:0.0:0.0	.	1418;1422	P11137-3;P11137	.;MAP2_HUMAN	F	1422;1418	ENSP00000353508:L1422F;ENSP00000392164:L1418F	ENSP00000353508:L1422F	L	+	1	0	MAP2	210269594	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.570000	0.60872	2.567000	0.86603	0.650000	0.86243	CTT		0.403	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MAP2	4133	broad.mit.edu	37	2	210570445	210570445	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:210570445A>G	ENST00000360351.4	+	11	5232	c.4726A>G	c.(4726-4728)Acc>Gcc	p.T1576A	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.T1572A|MAP2_ENST00000199940.6_Missense_Mutation_p.T277A|MAP2_ENST00000392194.1_Missense_Mutation_p.T220A|MAP2_ENST00000361559.4_Missense_Mutation_p.T220A	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1576					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.T1576A(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCACGGCGGACCACCAGTAG	0.373																																					p.T220A	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A658G	2						.						133.0	136.0	135.0					2																	210570445		2203	4300	6503	210278690	SO:0001583	missense	4133	exon8				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4726A>G	2.37:g.210570445A>G	ENSP00000353508:p.Thr1576Ala		210278690	NM_031847	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.890747	0.72524	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	T;T;T;T;T	0.19105	2.17;3.14;2.25;2.25;3.14	5.44	4.3	0.51218	.	0.000000	0.56097	D	0.000032	T	0.22085	0.0532	N	0.24115	0.695	0.43994	D	0.996699	P;B;B;P;B	0.52170	0.951;0.003;0.001;0.695;0.131	P;B;B;P;B	0.58873	0.847;0.006;0.001;0.468;0.093	T	0.02821	-1.1106	10	0.07990	T	0.79	-11.085	10.713	0.45995	0.9254:0.0:0.0745:0.0	.	1572;220;221;1576;277	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	A	277;1576;220;220;1572	ENSP00000199940:T277A;ENSP00000353508:T1576A;ENSP00000355290:T220A;ENSP00000376032:T220A;ENSP00000392164:T1572A	ENSP00000199940:T277A	T	+	1	0	MAP2	210278690	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.514000	0.60482	2.064000	0.61679	0.482000	0.46254	ACC		0.373	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MAP2	4133	broad.mit.edu	37	2	210574837	210574837	+	Silent	SNP	C	C	T	rs140691086	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:210574837C>T	ENST00000360351.4	+	12	5438	c.4932C>T	c.(4930-4932)gtC>gtT	p.V1644V	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Silent_p.V1640V|MAP2_ENST00000199940.6_Silent_p.V345V|MAP2_ENST00000392194.1_Silent_p.V288V|MAP2_ENST00000361559.4_Silent_p.V288V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1644					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.V1644V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGAAGAAGGTCGCCATCATAC	0.542																																					p.V288V	Pancreas(27;423 979 28787 29963)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864T	2						.	C	,,,	5,4401	9.9+/-24.2	0,5,2198	113.0	100.0	105.0		1035,4932,864,864	-10.0	0.3	2	dbSNP_134	105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,,,	345/560,1644/1828,288/472,288/503	210574837	5,13001	2203	4300	6503	210283082	SO:0001819	synonymous_variant	4133	exon9				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4932C>T	2.37:g.210574837C>T			210283082	NM_031847	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	CCDS2384.1																																																																																				0.542	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
UNC80	285175	broad.mit.edu	37	2	210642204	210642204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:210642204G>A	ENST00000439458.1	+	4	601	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.6_Missense_Mutation_p.R174Q	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	174					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R174Q(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GAGAACAACCGAAGAAAGATC	0.502																																					p.R174Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G521A	2						.						119.0	121.0	121.0					2																	210642204		2203	4300	6503	210350449	SO:0001583	missense	285175	exon4			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.521G>A	2.37:g.210642204G>A	ENSP00000391088:p.Arg174Gln		210350449	NM_182587	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	ENST00000439458.1	37	CCDS46504.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466773	0.96257	.	.	ENSG00000144406	ENST00000439458;ENST00000281753;ENST00000272845	T;T	0.32515	1.45;1.45	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.77557	0.99;0.748	T	0.43782	-0.9370	10	0.51188	T	0.08	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	174;174	Q8N2C7;Q8N2C7-3	UNC80_HUMAN;.	Q	174	ENSP00000391088:R174Q;ENSP00000272845:R174Q	ENSP00000272845:R174Q	R	+	2	0	UNC80	210350449	1.000000	0.71417	0.953000	0.39169	0.991000	0.79684	7.755000	0.85180	2.894000	0.99253	0.655000	0.94253	CGA		0.502	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_182587	
APOB	338	broad.mit.edu	37	2	21225595	21225595	+	Silent	SNP	C	C	T	rs56675344	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:21225595C>T	ENST00000233242.1	-	29	12826	c.12699G>A	c.(12697-12699)tcG>tcA	p.S4233S	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4233					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S4233S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGGACTTTCGAATATACCT	0.408													C|||	10	0.00199681	0.0076	0.0	5008	,	,		20628	0.0		0.0	False		,,,				2504	0.0				p.S4233S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12699A	2						.	C		23,4383	26.2+/-53.5	0,23,2180	91.0	96.0	94.0		12699	-9.3	0.0	2	dbSNP_129	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,24,6479	TT,TC,CC		0.0116,0.522,0.1845		4233/4564	21225595	24,12982	2203	4300	6503	21079100	SO:0001819	synonymous_variant	338	exon29			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12699G>A	2.37:g.21225595C>T			21079100	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.408	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21228133	21228133	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:21228133G>A	ENST00000233242.1	-	26	11734	c.11607C>T	c.(11605-11607)ttC>ttT	p.F3869F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3869					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.F3869F(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTACAGAGAACTTAATGG	0.478																																					p.F3869F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C11607T	2						.						136.0	124.0	128.0					2																	21228133		2203	4300	6503	21081638	SO:0001819	synonymous_variant	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11607C>T	2.37:g.21228133G>A			21081638	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21229472	21229472	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:21229472A>G	ENST00000233242.1	-	26	10395	c.10268T>C	c.(10267-10269)gTg>gCg	p.V3423A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3423	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.V3423A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCACTGACACTTCCATATT	0.398																																					p.V3423A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T10268C	2						.						174.0	172.0	173.0					2																	21229472		2203	4300	6503	21082977	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10268T>C	2.37:g.21229472A>G	ENSP00000233242:p.Val3423Ala		21082977	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	a	0.107	-1.143295	0.01728	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.72942	-0.7	5.74	3.96	0.45880	.	0.319547	0.26522	N	0.023904	T	0.24736	0.0600	N	0.00046	-2.44	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49762	-0.8905	10	0.02654	T	1	.	12.5799	0.56386	0.1349:0.0:0.8651:0.0	.	3423	P04114	APOB_HUMAN	A	3423	ENSP00000233242:V3423A	ENSP00000233242:V3423A	V	-	2	0	APOB	21082977	0.833000	0.29383	0.500000	0.27589	0.711000	0.40976	4.136000	0.58004	0.774000	0.33427	-0.140000	0.14226	GTG		0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21230014	21230014	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:21230014G>A	ENST00000233242.1	-	26	9853	c.9726C>T	c.(9724-9726)ctC>ctT	p.L3242L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3242					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L3242L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTCCTGGGGAGCTCGTCGT	0.378																																					p.L3242L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9726T	2						.						53.0	52.0	52.0					2																	21230014		2203	4300	6503	21083519	SO:0001819	synonymous_variant	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9726C>T	2.37:g.21230014G>A			21083519	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21231443	21231443	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:21231443G>T	ENST00000233242.1	-	26	8424	c.8297C>A	c.(8296-8298)tCt>tAt	p.S2766Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2766					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S2766Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAAGAGGAGATTGGATTTT	0.448																																					p.S2766Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8297A	2						.						136.0	137.0	137.0					2																	21231443		2203	4300	6503	21084948	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8297C>A	2.37:g.21231443G>T	ENSP00000233242:p.Ser2766Tyr		21084948	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431925	0.43122	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01084	5.36	5.36	4.48	0.54585	.	0.149328	0.31859	N	0.006959	T	0.04724	0.0128	M	0.74881	2.28	0.80722	D	1	D	0.55605	0.972	P	0.55965	0.788	T	0.19549	-1.0302	10	0.87932	D	0	.	13.4749	0.61303	0.0762:0.0:0.9238:0.0	.	2766	P04114	APOB_HUMAN	Y	2766	ENSP00000233242:S2766Y	ENSP00000233242:S2766Y	S	-	2	0	APOB	21084948	1.000000	0.71417	0.984000	0.44739	0.238000	0.25445	7.966000	0.87956	1.267000	0.44247	0.555000	0.69702	TCT		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21234811	21234811	+	Silent	SNP	C	C	T	rs200623857	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:21234811C>T	ENST00000233242.1	-	26	5056	c.4929G>A	c.(4927-4929)gcG>gcA	p.A1643A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1643					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A1643A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTAGTGTCGCCTTGTGAG	0.463																																					p.A1643A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4929A	2						.						96.0	90.0	92.0					2																	21234811		2203	4300	6503	21088316	SO:0001819	synonymous_variant	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4929G>A	2.37:g.21234811C>T			21088316	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21235340	21235340	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:21235340G>A	ENST00000233242.1	-	26	4527	c.4400C>T	c.(4399-4401)gCt>gTt	p.A1467V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1467					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A1467V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGAACTGAAGCAGACATCTG	0.388																																					p.A1467V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4400T	2						.						120.0	121.0	120.0					2																	21235340		2203	4300	6503	21088845	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4400C>T	2.37:g.21235340G>A	ENSP00000233242:p.Ala1467Val		21088845	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259871	0.59321	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00678	5.87	5.62	4.63	0.57726	.	0.213198	0.33272	N	0.005082	T	0.00666	0.0022	L	0.36672	1.1	0.80722	D	1	B	0.29909	0.261	B	0.22880	0.042	T	0.65232	-0.6218	10	0.22109	T	0.4	.	3.6494	0.08198	0.3429:0.0:0.6571:0.0	.	1467	P04114	APOB_HUMAN	V	1467	ENSP00000233242:A1467V	ENSP00000233242:A1467V	A	-	2	0	APOB	21088845	1.000000	0.71417	0.991000	0.47740	0.890000	0.51754	5.495000	0.66912	2.633000	0.89246	0.655000	0.94253	GCT		0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21235442	21235442	+	Missense_Mutation	SNP	G	G	A	rs200708197		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:21235442G>A	ENST00000233242.1	-	26	4425	c.4298C>T	c.(4297-4299)tCg>tTg	p.S1433L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1433					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S1433L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGATATTCGAATCTAGAAA	0.368																																					p.S1433L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4298T	2						.						83.0	88.0	86.0					2																	21235442		2202	4300	6502	21088947	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4298C>T	2.37:g.21235442G>A	ENSP00000233242:p.Ser1433Leu		21088947	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381724	0.82792	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00986	5.47	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000037	T	0.05318	0.0141	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	P	0.62298	0.9	T	0.08659	-1.0711	10	0.87932	D	0	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	1433	P04114	APOB_HUMAN	L	1433	ENSP00000233242:S1433L	ENSP00000233242:S1433L	S	-	2	0	APOB	21088947	1.000000	0.71417	0.987000	0.45799	0.931000	0.56810	8.712000	0.91403	2.782000	0.95742	0.655000	0.94253	TCG		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
APOB	338	broad.mit.edu	37	2	21255294	21255294	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:21255294C>A	ENST00000233242.1	-	10	1411	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	APOB_ENST00000399256.4_Missense_Mutation_p.E428D	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	428	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E428D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTGAAGATCTCTCGCAGCT	0.577																																					p.E428D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1284T	2						.						86.0	79.0	81.0					2																	21255294		2203	4300	6503	21108799	SO:0001583	missense	338	exon10			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1284G>T	2.37:g.21255294C>A	ENSP00000233242:p.Glu428Asp		21108799	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992570	0.54041	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.43294	0.95;0.95	5.26	1.11	0.20524	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.097128	0.44688	D	0.000432	T	0.25938	0.0632	L	0.35644	1.08	0.30724	N	0.747919	B	0.17038	0.02	B	0.22601	0.04	T	0.12192	-1.0557	10	0.21540	T	0.41	.	4.0983	0.10002	0.1552:0.4027:0.0:0.4421	.	428	P04114	APOB_HUMAN	D	428	ENSP00000233242:E428D;ENSP00000382200:E428D	ENSP00000233242:E428D	E	-	3	2	APOB	21108799	0.930000	0.31532	0.834000	0.33040	0.939000	0.58152	0.045000	0.14013	0.294000	0.22547	0.650000	0.86243	GAG		0.577	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
RPE	6120	broad.mit.edu	37	2	210880819	210880819	+	Missense_Mutation	SNP	C	C	T	rs138496299	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:210880819C>T	ENST00000359429.6	+	3	422	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	RPE_ENST00000429921.1_Missense_Mutation_p.R41W|RPE_ENST00000454822.1_Missense_Mutation_p.R41W|RPE_ENST00000354506.6_Missense_Mutation_p.R83W|RPE_ENST00000435437.2_Missense_Mutation_p.R109W|RPE_ENST00000540255.1_Missense_Mutation_p.R109W|RPE_ENST00000436630.2_Missense_Mutation_p.R41W|RPE_ENST00000438204.2_Missense_Mutation_p.R41W|RPE_ENST00000411934.2_Missense_Mutation_p.R41W|RPE_ENST00000429907.1_Missense_Mutation_p.R41W|RPE_ENST00000452025.1_Missense_Mutation_p.R109W|RPE_ENST00000445268.1_Missense_Mutation_p.R41W	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	109					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)	p.R109W(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TAAAGACATTCGGGAGAATGG	0.443																																					p.R109W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C325T	2						.	C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	80.0	81.0	81.0		121,325	5.4	1.0	2	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPE	NM_006916.1,NM_199229.1	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	41/179,109/229	210880819	1,13005	2203	4300	6503	210589064	SO:0001583	missense	6120	exon3				CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.325C>T	2.37:g.210880819C>T	ENSP00000352401:p.Arg109Trp		210589064	NM_199229	A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903514	0.52333	0.0	1.16E-4	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000453724;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.42	5.42	0.78866	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.177006	0.48767	D	0.000162	T	0.70885	0.3275	M	0.91510	3.215	0.58432	D	0.999998	B;B;P;P;P	0.41624	0.44;0.1;0.757;0.554;0.477	B;B;B;B;B	0.39419	0.287;0.059;0.299;0.206;0.276	T	0.79045	-0.1964	9	0.87932	D	0	.	14.9031	0.70696	0.1439:0.8561:0.0:0.0	.	109;96;83;109;109	B4E016;B3KTW7;E7EW52;Q96AT9;C9J9T0	.;.;.;RPE_HUMAN;.	W	109;41;41;41;41;41;109;41;41;41;41;109;41;41;109;83	.	ENSP00000346501:R83W	R	+	1	2	RPE	210589064	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.929000	0.48916	2.691000	0.91804	0.655000	0.94253	CGG		0.443	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916	
ERBB4	2066	broad.mit.edu	37	2	212251741	212251741	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:212251741G>T	ENST00000342788.4	-	27	3628	c.3318C>A	c.(3316-3318)tgC>tgA	p.C1106*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.C1096*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.C1090*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1106					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C1106*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGCCATTACAGCAGGAGTCAT	0.557										TSP Lung(8;0.080)																											p.C1106X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3318A	2						.						128.0	117.0	120.0					2																	212251741		2203	4300	6503	211959986	SO:0001587	stop_gained	2066	exon27			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3318C>A	2.37:g.212251741G>T	ENSP00000342235:p.Cys1106*		211959986	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	38	6.891831	0.97916	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.73	1.23	0.21249	.	0.049130	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7201	0.34436	0.5311:0.0:0.4689:0.0	.	.	.	.	X	1106;1090;1096	.	ENSP00000342235:C1106X	C	-	3	2	ERBB4	211959986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.768000	0.26590	0.315000	0.23110	0.561000	0.74099	TGC		0.557	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ERBB4	2066	broad.mit.edu	37	2	212495220	212495220	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:212495220C>A	ENST00000342788.4	-	17	2356	c.2046G>T	c.(2044-2046)aaG>aaT	p.K682N	ERBB4_ENST00000402597.1_Missense_Mutation_p.K672N|ERBB4_ENST00000436443.1_Missense_Mutation_p.K682N	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	682					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K682N(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AGGCTCTTTTCTTTTTGATGC	0.413										TSP Lung(8;0.080)																											p.K682N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2046T	2						.						121.0	130.0	127.0					2																	212495220		2203	4300	6503	212203465	SO:0001583	missense	2066	exon17			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2046G>T	2.37:g.212495220C>A	ENSP00000342235:p.Lys682Asn		212203465	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.961890|3.961890	0.74016|0.74016	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.77750|.	-1.12;-1.11;-1.12|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49898|0.49898	0.1584|0.1584	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	D;B;B;D;D|.	0.89917|.	1.0;0.287;0.196;1.0;0.999|.	D;B;B;D;D|.	0.87578|.	0.998;0.236;0.047;0.998;0.996|.	T|T	0.43798|0.43798	-0.9369|-0.9369	10|5	0.31617|.	T|.	0.26|.	.|.	20.1854|20.1854	0.98212|0.98212	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	672;672;541;682;682|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	N|I	682;682;672|672	ENSP00000342235:K682N;ENSP00000403204:K682N;ENSP00000385565:K672N|.	ENSP00000342235:K682N|.	K|R	-|-	3|2	2|0	ERBB4|ERBB4	212203465|212203465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.094000|3.094000	0.50227|0.50227	2.772000|2.772000	0.95346|0.95346	0.585000|0.585000	0.79938|0.79938	AAG|AGA		0.413	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
IKZF2	22807	broad.mit.edu	37	2	213872491	213872491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:213872491G>A	ENST00000434687.1	-	9	1483	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.R398*|IKZF2_ENST00000457361.1_Nonsense_Mutation_p.R392*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.R318*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.R366*|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.R320*|IKZF2_ENST00000374327.4_Nonsense_Mutation_p.R247*|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	392					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R392*(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCCTGGGGTCGACTCTTTGGT	0.502																																					p.R392X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1174T	2						.						111.0	108.0	109.0					2																	213872491		2203	4300	6503	213580736	SO:0001587	stop_gained	22807	exon8			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1174C>T	2.37:g.213872491G>A	ENSP00000412869:p.Arg392*		213580736	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Nonsense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	37	6.022593	0.97211	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	.	.	.	6.17	6.17	0.99709	.	0.102557	0.44483	D	0.000454	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.4371	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	392;398;392;366;320;318;247;96	.	ENSP00000342876:R398X	R	-	1	2	IKZF2	213580736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.083000	0.57643	2.941000	0.99782	0.655000	0.94253	CGA		0.502	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	
IKZF2	22807	broad.mit.edu	37	2	213872790	213872790	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:213872790A>G	ENST00000434687.1	-	9	1184	c.875T>C	c.(874-876)tTc>tCc	p.F292S	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.F298S|IKZF2_ENST00000457361.1_Missense_Mutation_p.F292S|IKZF2_ENST00000421754.2_Missense_Mutation_p.F218S|IKZF2_ENST00000374319.4_Missense_Mutation_p.F266S|IKZF2_ENST00000451136.2_Missense_Mutation_p.F220S|IKZF2_ENST00000374327.4_Missense_Mutation_p.F147S|AC079610.1_ENST00000415387.1_RNA			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	292					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F292S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGGGTAGCTGAATCGCATGAG	0.378																																					p.F292S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T875C	2						.						47.0	46.0	46.0					2																	213872790		2203	4300	6503	213581035	SO:0001583	missense	22807	exon8			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.875T>C	2.37:g.213872790A>G	ENSP00000412869:p.Phe292Ser		213581035	NM_016260	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	A	9.568	1.120328	0.20877	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327	T;T;T;T;T;T;T	0.15017	3.2;3.17;3.2;3.23;3.26;3.2;2.46	5.59	5.59	0.84812	.	0.068277	0.64402	D	0.000009	T	0.20941	0.0504	M	0.75777	2.31	0.80722	D	1	B;B;P;B;B;B	0.45827	0.302;0.145;0.867;0.023;0.112;0.255	B;B;B;B;B;B	0.38616	0.099;0.143;0.277;0.061;0.092;0.11	T	0.03910	-1.0993	10	0.87932	D	0	-6.0859	10.2712	0.43483	0.853:0.0:0.0:0.147	.	220;218;147;266;292;70	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	S	292;298;292;266;220;218;147	ENSP00000410447:F292S;ENSP00000342876:F298S;ENSP00000412869:F292S;ENSP00000363439:F266S;ENSP00000395203:F220S;ENSP00000399574:F218S;ENSP00000363447:F147S	ENSP00000342876:F298S	F	-	2	0	IKZF2	213581035	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.519000	0.45546	2.129000	0.65627	0.533000	0.62120	TTC		0.378	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260	
SPAG16	79582	broad.mit.edu	37	2	215275035	215275035	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:215275035C>A	ENST00000331683.5	+	16	1987	c.1892C>A	c.(1891-1893)tCt>tAt	p.S631Y	VWC2L_ENST00000312504.5_5'Flank|VWC2L_ENST00000427124.1_5'Flank|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|SPAG16_ENST00000374309.3_Missense_Mutation_p.S537Y	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	631					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.S631Y(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CGAACGTGGTCTTGACCGTCA	0.517																																					p.S631Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1892A	2						.						104.0	98.0	100.0					2																	215275035		2203	4300	6503	214983280	SO:0001583	missense	79582	exon16			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1892C>A	2.37:g.215275035C>A	ENSP00000332592:p.Ser631Tyr		214983280	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295902	0.60086	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	T;T;T	0.62788	0.0;0.0;0.0	5.63	2.77	0.32553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.699166	0.12313	N	0.480060	T	0.73513	0.3596	M	0.74467	2.265	0.27114	N	0.9623	D;D;D	0.89917	0.975;1.0;0.975	P;D;P	0.79784	0.832;0.993;0.832	T	0.61461	-0.7058	10	0.87932	D	0	.	3.0243	0.06085	0.1458:0.5588:0.141:0.1544	.	537;571;631	B4DYB5;Q4G1A2;Q8N0X2	.;.;SPG16_HUMAN	Y	631;537;255	ENSP00000332592:S631Y;ENSP00000363428:S537Y;ENSP00000416600:S255Y	ENSP00000332592:S631Y	S	+	2	0	SPAG16	214983280	0.079000	0.21365	0.982000	0.44146	0.837000	0.47467	-0.003000	0.12901	0.374000	0.24650	0.563000	0.77884	TCT		0.517	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
ABCA12	26154	broad.mit.edu	37	2	215890460	215890460	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:215890460A>C	ENST00000272895.7	-	11	1443	c.1224T>G	c.(1222-1224)tcT>tcG	p.S408S	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Silent_p.S90S|AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000419251.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	408					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.S408S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCGAAGAAAAGATTTTTTAA	0.333																																					p.S408S	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1224G	2						.						79.0	82.0	81.0					2																	215890460		2203	4300	6503	215598705	SO:0001819	synonymous_variant	26154	exon11			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1224T>G	2.37:g.215890460A>C			215598705	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.333	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	broad.mit.edu	37	2	215928835	215928835	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:215928835C>A	ENST00000272895.7	-	3	490	c.271G>T	c.(271-273)Gat>Tat	p.D91Y		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	91					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.D91Y(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CGAAGCAGATCTTGTGGGCCA	0.448																																					p.D91Y	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271T	2						.						206.0	190.0	195.0					2																	215928835		2203	4300	6503	215637080	SO:0001583	missense	26154	exon3			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.271G>T	2.37:g.215928835C>A	ENSP00000272895:p.Asp91Tyr		215637080	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631546	0.46944	.	.	ENSG00000144452	ENST00000272895	D	0.89415	-2.51	5.65	5.65	0.86999	.	0.123202	0.35970	N	0.002880	D	0.90635	0.7063	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.91599	0.5293	10	0.66056	D	0.02	.	16.6359	0.85059	0.0:1.0:0.0:0.0	.	91	Q86UK0	ABCAC_HUMAN	Y	91	ENSP00000272895:D91Y	ENSP00000272895:D91Y	D	-	1	0	ABCA12	215637080	1.000000	0.71417	0.909000	0.35828	0.032000	0.12392	4.681000	0.61663	2.656000	0.90262	0.655000	0.94253	GAT		0.448	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ATIC	471	broad.mit.edu	37	2	216203539	216203539	+	Missense_Mutation	SNP	G	G	A	rs199518893		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:216203539G>A	ENST00000236959.9	+	12	1462	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	ATIC_ENST00000540518.1_Missense_Mutation_p.R320Q|ATIC_ENST00000435675.1_Missense_Mutation_p.R378Q	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	379					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.R379Q(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	AATGAAGTTCGAACTCTCTTT	0.308			T	ALK	ALCL								G|||	1	0.000199681	0.0	0.0	5008	,	,		17917	0.001		0.0	False		,,,				2504	0.0				p.R379Q			Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1136A	2						.						76.0	78.0	77.0					2																	216203539		2203	4300	6503	215911784	SO:0001583	missense	471	exon12				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1136G>A	2.37:g.216203539G>A	ENSP00000236959:p.Arg379Gln		215911784	NM_004044	A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	CCDS2398.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.177313	0.94846	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675	T;T;T	0.79940	-1.32;-1.32;-1.32	6.06	5.19	0.71726	AICAR transformylase domain (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	M	0.91663	3.23	0.80722	D	1	D;P	0.56035	0.974;0.929	B;B	0.42916	0.338;0.402	D	0.88911	0.3359	10	0.87932	D	0	-4.858	15.3889	0.74726	0.0665:0.0:0.9335:0.0	.	378;379	E9PBU3;P31939	.;PUR9_HUMAN	Q	379;320;378	ENSP00000236959:R379Q;ENSP00000440523:R320Q;ENSP00000415935:R378Q	ENSP00000236959:R379Q	R	+	2	0	ATIC	215911784	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.595000	0.98260	1.575000	0.49775	0.650000	0.86243	CGA		0.308	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044	
FN1	2335	broad.mit.edu	37	2	216273098	216273098	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:216273098C>T	ENST00000359671.1	-	16	2616	c.2351G>A	c.(2350-2352)cGa>cAa	p.R784Q	FN1_ENST00000346544.3_Missense_Mutation_p.R784Q|FN1_ENST00000421182.1_Missense_Mutation_p.R784Q|FN1_ENST00000336916.4_Missense_Mutation_p.R784Q|FN1_ENST00000432072.2_Missense_Mutation_p.R784Q|FN1_ENST00000446046.1_Missense_Mutation_p.R784Q|FN1_ENST00000354785.4_Missense_Mutation_p.R784Q|FN1_ENST00000357009.2_Missense_Mutation_p.R784Q|FN1_ENST00000443816.1_Missense_Mutation_p.R784Q|FN1_ENST00000323926.6_Missense_Mutation_p.R784Q|FN1_ENST00000357867.4_Missense_Mutation_p.R784Q|FN1_ENST00000356005.4_Missense_Mutation_p.R784Q|FN1_ENST00000345488.5_Missense_Mutation_p.R784Q			P02751	FINC_HUMAN	fibronectin 1	784	Fibronectin type-III 2. {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)	p.R784Q(1)	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)	AATGTATTTTCGGCCAGGAAG	0.418																																					p.R784Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2351A	2						.						92.0	88.0	89.0					2																	216273098		2203	4300	6503	215981343	SO:0001583	missense	2335	exon16				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.2351G>A	2.37:g.216273098C>T	ENSP00000352696:p.Arg784Gln		215981343	NM_212476	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	36	5.957981	0.97145	.	.	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	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000020	T	0.64746	0.2626	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;P;D;D;D;P;D;D;D	0.81914	0.984;0.99;0.652;0.995;0.981;0.977;0.855;0.995;0.995;0.984	T	0.59059	-0.7525	10	0.33940	T	0.23	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	784;784;784;784;784;784;784;784;784;784	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	Q	784	ENSP00000394423:R784Q;ENSP00000323534:R784Q;ENSP00000338200:R784Q;ENSP00000350534:R784Q;ENSP00000346839:R784Q;ENSP00000352696:R784Q;ENSP00000265312:R784Q;ENSP00000273049:R784Q;ENSP00000349509:R784Q;ENSP00000410422:R784Q;ENSP00000415018:R784Q;ENSP00000399538:R784Q;ENSP00000348285:R784Q	ENSP00000265313:R784Q	R	-	2	0	FN1	215981343	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.625000	0.83145	2.814000	0.96858	0.655000	0.94253	CGA		0.418	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FN1	2335	broad.mit.edu	37	2	216288915	216288915	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:216288915C>T	ENST00000359671.1	-	8	1435	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	FN1_ENST00000346544.3_Silent_p.S390S|FN1_ENST00000426059.1_Silent_p.S390S|FN1_ENST00000421182.1_Silent_p.S390S|FN1_ENST00000336916.4_Silent_p.S390S|FN1_ENST00000432072.2_Silent_p.S390S|FN1_ENST00000446046.1_Silent_p.S390S|FN1_ENST00000354785.4_Silent_p.S390S|FN1_ENST00000357009.2_Silent_p.S390S|FN1_ENST00000443816.1_Silent_p.S390S|FN1_ENST00000323926.6_Silent_p.S390S|FN1_ENST00000357867.4_Silent_p.S390S|FN1_ENST00000356005.4_Silent_p.S390S|FN1_ENST00000345488.5_Silent_p.S390S			P02751	FINC_HUMAN	fibronectin 1	390	Collagen-binding.|Fibronectin type-II 1. {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)	p.S390S(1)	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)	GCTCATAATTCGAAGTTGTGC	0.507																																					p.S390S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1170A	2						.						177.0	144.0	155.0					2																	216288915		2203	4300	6503	215997160	SO:0001819	synonymous_variant	2335	exon8				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.1170G>A	2.37:g.216288915C>T			215997160	NM_212476	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	Silent	SNP	ENST00000359671.1	37																																																																																					0.507	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FN1	2335	broad.mit.edu	37	2	216296602	216296602	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:216296602A>C	ENST00000359671.1	-	4	766	c.501T>G	c.(499-501)tgT>tgG	p.C167W	FN1_ENST00000346544.3_Missense_Mutation_p.C167W|FN1_ENST00000426059.1_Missense_Mutation_p.C167W|FN1_ENST00000421182.1_Missense_Mutation_p.C167W|FN1_ENST00000336916.4_Missense_Mutation_p.C167W|FN1_ENST00000432072.2_Missense_Mutation_p.C167W|FN1_ENST00000446046.1_Missense_Mutation_p.C167W|FN1_ENST00000354785.4_Missense_Mutation_p.C167W|FN1_ENST00000357009.2_Missense_Mutation_p.C167W|FN1_ENST00000443816.1_Missense_Mutation_p.C167W|FN1_ENST00000323926.6_Missense_Mutation_p.C167W|FN1_ENST00000357867.4_Missense_Mutation_p.C167W|FN1_ENST00000356005.4_Missense_Mutation_p.C167W|FN1_ENST00000345488.5_Missense_Mutation_p.C167W			P02751	FINC_HUMAN	fibronectin 1	167	Fibrin- and heparin-binding 1.|Fibronectin type-I 3. {ECO:0000255|PROSITE-ProRule:PRU00478}.				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)	CAAGACACACACACTCTAACA	0.498																																					p.C167W												.	.	0			c.T501G	2						.						276.0	227.0	244.0					2																	216296602		2203	4300	6503	216004847	SO:0001583	missense	2335	exon4				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.501T>G	2.37:g.216296602A>C	ENSP00000352696:p.Cys167Trp		216004847	NM_212476	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		.	.	.	.	.	.	.	.	.	.	A	19.67	3.870682	0.72065	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.78	3.44	0.39384	.	0.000000	0.85682	D	0.000000	D	0.96078	0.8722	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.995;1.0;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.991;0.931;0.998;0.999;1.0;0.993;0.998;0.998;0.998	D	0.95126	0.8251	10	0.87932	D	0	.	9.8042	0.40783	0.8007:0.0:0.1993:0.0	.	167;167;167;167;167;167;167;167;167;167;167	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	W	167	ENSP00000394423:C167W;ENSP00000323534:C167W;ENSP00000338200:C167W;ENSP00000350534:C167W;ENSP00000346839:C167W;ENSP00000352696:C167W;ENSP00000265312:C167W;ENSP00000273049:C167W;ENSP00000349509:C167W;ENSP00000410422:C167W;ENSP00000415018:C167W;ENSP00000399538:C167W;ENSP00000348285:C167W;ENSP00000398907:C167W	ENSP00000265313:C167W	C	-	3	2	FN1	216004847	0.983000	0.35010	1.000000	0.80357	0.995000	0.86356	0.434000	0.21494	0.558000	0.29135	0.482000	0.46254	TGT		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
MREG	55686	broad.mit.edu	37	2	216809668	216809668	+	Missense_Mutation	SNP	C	C	T	rs543536857		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:216809668C>T	ENST00000263268.6	-	5	858	c.563G>A	c.(562-564)cGa>cAa	p.R188Q		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	188						plasma membrane (GO:0005886)		p.R188Q(1)		large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GGGGTAAGTTCGACGAGCAAG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		18756	0.0		0.0	False		,,,				2504	0.001				p.R188Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G563A	2						.						61.0	60.0	61.0					2																	216809668		1902	4118	6020	216517913	SO:0001583	missense	55686	exon5			AK000978	CCDS46513.1	2q35	2013-09-27			ENSG00000118242	ENSG00000118242			25478	protein-coding gene	gene with protein product		609207				19240024, 22275436	Standard	NM_018000		Approved	FLJ10116, DSU, WDT2	uc002vfo.3	Q8N565	OTTHUMG00000154828	ENST00000263268.6:c.563G>A	2.37:g.216809668C>T	ENSP00000263268:p.Arg188Gln		216517913	NM_018000	Q53R89|Q53TC1|Q5XKB6|Q9NWC9|Q9P1S1	Missense_Mutation	SNP	ENST00000263268.6	37	CCDS46513.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214837	0.39102	.	.	ENSG00000118242	ENST00000236976;ENST00000263268	T	0.42131	0.98	5.92	-3.83	0.04269	.	1.032050	0.07595	N	0.922682	T	0.18130	0.0435	N	0.05230	-0.09	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.24512	-1.0158	10	0.23302	T	0.38	0.0694	7.1418	0.25560	0.1417:0.2245:0.0:0.6338	.	188	Q8N565	MREG_HUMAN	Q	188	ENSP00000263268:R188Q	ENSP00000236976:R188Q	R	-	2	0	MREG	216517913	0.000000	0.05858	0.831000	0.32960	0.935000	0.57460	-2.693000	0.00829	-0.355000	0.08199	0.561000	0.74099	CGA		0.498	MREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337297.1	NM_018000	
ZNF142	7701	broad.mit.edu	37	2	219508139	219508139	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:219508139G>T	ENST00000449707.1	-	8	3521	c.3100C>A	c.(3100-3102)Ctt>Att	p.L1034I	ZNF142_ENST00000411696.2_Missense_Mutation_p.L1034I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1034					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L871I(1)|p.L1034I(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGGAACAAAGGAATGGGCAG	0.612																																					p.L1034I	Colon(170;867 1942 8995 15834 18053)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3100A	2						.						67.0	74.0	72.0					2																	219508139		1946	4137	6083	219216383	SO:0001583	missense	7701	exon8			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3100C>A	2.37:g.219508139G>T	ENSP00000408643:p.Leu1034Ile		219216383	NM_001105537	Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	5.892	0.348648	0.11126	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11821	2.74;2.74	4.76	4.76	0.60689	Zinc finger, C2H2-like (1);	0.315706	0.30428	N	0.009651	T	0.19765	0.0475	L	0.29908	0.895	0.28228	N	0.926228	D;D	0.71674	0.998;0.998	D;D	0.74674	0.984;0.984	T	0.07195	-1.0785	10	0.18276	T	0.48	-18.323	8.8285	0.35069	0.0:0.2686:0.5906:0.1408	.	1034;871	P52746;A8MWU9	ZN142_HUMAN;.	I	1034	ENSP00000408643:L1034I;ENSP00000398798:L1034I	ENSP00000398798:L1034I	L	-	1	0	ZNF142	219216383	0.998000	0.40836	0.984000	0.44739	0.226000	0.24999	0.817000	0.27281	2.638000	0.89438	0.655000	0.94253	CTT		0.612	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081	
PRKAG3	53632	broad.mit.edu	37	2	219695555	219695555	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:219695555C>A	ENST00000529249.1	-	3	458	c.143G>T	c.(142-144)aGa>aTa	p.R48I	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.R23I|PRKAG3_ENST00000392098.3_Missense_Mutation_p.R48I			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	48					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.R48I(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	CCCACGGATTCTTTCTGAGCT	0.567																																					p.R48I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G143T	2						.						174.0	147.0	156.0					2																	219695555		2203	4300	6503	219403799	SO:0001583	missense	53632	exon3			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.143G>T	2.37:g.219695555C>A	ENSP00000436068:p.Arg48Ile		219403799	NM_017431	Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967195	0.34754	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098;ENST00000430489	D;D;T;T	0.84944	-1.87;-1.92;-0.15;0.41	4.78	1.37	0.22104	.	0.609510	0.15260	N	0.271849	T	0.69178	0.3082	N	0.19112	0.55	0.29668	N	0.842668	B;B;B	0.31931	0.347;0.0;0.001	B;B;B	0.30782	0.12;0.003;0.003	T	0.61501	-0.7050	10	0.37606	T	0.19	-0.254	3.2949	0.06963	0.4618:0.3929:0.0:0.1453	.	48;23;48	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	I	23;48;48;48	ENSP00000397133:R23I;ENSP00000436068:R48I;ENSP00000375947:R48I;ENSP00000416100:R48I	ENSP00000233944:R48I	R	-	2	0	PRKAG3	219403799	0.193000	0.23313	0.891000	0.34965	0.665000	0.39181	0.177000	0.16801	0.417000	0.25871	0.655000	0.94253	AGA		0.567	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
FAM134A	79137	broad.mit.edu	37	2	220045401	220045401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:220045401C>T	ENST00000430297.2	+	5	701	c.565C>T	c.(565-567)Cga>Tga	p.R189*	CNPPD1_ENST00000409789.1_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	189						integral component of membrane (GO:0016021)		p.R189*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCTGCGTTCGAGTCTGCTC	0.512																																					p.R189X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C565T	2						.						446.0	364.0	391.0					2																	220045401		2203	4300	6503	219753645	SO:0001587	stop_gained	79137	exon5			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.565C>T	2.37:g.220045401C>T	ENSP00000395249:p.Arg189*		219753645	NM_024293	Q6P1P5|Q9H0K7	Nonsense_Mutation	SNP	ENST00000430297.2	37	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	37	6.406685	0.97542	.	.	ENSG00000144567	ENST00000430297	.	.	.	4.83	4.83	0.62350	.	0.316821	0.32952	N	0.005446	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-6.3021	8.2028	0.31434	0.2208:0.6397:0.1395:0.0	.	.	.	.	X	189	.	ENSP00000395249:R189X	R	+	1	2	FAM134A	219753645	0.993000	0.37304	0.999000	0.59377	0.988000	0.76386	2.627000	0.46469	2.481000	0.83766	0.655000	0.94253	CGA		0.512	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293	
ANKZF1	55139	broad.mit.edu	37	2	220101074	220101074	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:220101074A>C	ENST00000323348.5	+	14	2262	c.2088A>C	c.(2086-2088)caA>caC	p.Q696H	ANKZF1_ENST00000409849.1_Missense_Mutation_p.Q486H|ANKZF1_ENST00000410034.3_Missense_Mutation_p.Q696H|GLB1L_ENST00000497855.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	696						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.Q696H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCCCTCCAAGGCCTGACTC	0.562																																					p.Q696H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2088C	2						.						112.0	118.0	116.0					2																	220101074		2072	4203	6275	219809318	SO:0001583	missense	55139	exon14			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.2088A>C	2.37:g.220101074A>C	ENSP00000321617:p.Gln696His		219809318	NM_001042410	Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423406	0.62733	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.95001	-3.58;-3.58;-3.58	5.38	3.04	0.35103	.	0.063528	0.64402	D	0.000005	D	0.94185	0.8134	L	0.57536	1.79	0.37901	D	0.931047	D	0.76494	0.999	P	0.59703	0.862	D	0.92262	0.5818	10	0.33141	T	0.24	-12.1962	5.9225	0.19091	0.7191:0.0:0.2809:0.0	.	696	Q9H8Y5	ANKZ1_HUMAN	H	696;486;696	ENSP00000321617:Q696H;ENSP00000386815:Q486H;ENSP00000386337:Q696H	ENSP00000321617:Q696H	Q	+	3	2	ANKZF1	219809318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.897000	0.39799	1.075000	0.40932	0.533000	0.62120	CAA		0.562	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089	
STK16	8576	broad.mit.edu	37	2	220113190	220113190	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:220113190A>G	ENST00000409638.3	+	8	999	c.827A>G	c.(826-828)gAc>gGc	p.D276G	STK16_ENST00000396738.2_Missense_Mutation_p.D276G|GLB1L_ENST00000392089.2_5'Flank|STK16_ENST00000409743.1_Missense_Mutation_p.D244G|TUBA4A_ENST00000498660.1_5'Flank|STK16_ENST00000409260.1_Missense_Mutation_p.D321G|STK16_ENST00000409516.3_Missense_Mutation_p.D158G|GLB1L_ENST00000295759.7_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.D276G(1)		skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGACCGTGGACCCGCATCAG	0.577																																					p.D276G	Pancreas(34;887 922 17165 36961 39622)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A827G	2						.						109.0	116.0	113.0					2																	220113190		2079	4210	6289	219821434	SO:0001583	missense	8576	exon8			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.827A>G	2.37:g.220113190A>G	ENSP00000386928:p.Asp276Gly		219821434	NM_001008910	A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921797	0.52653	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409516;ENST00000409260;ENST00000409743	T;T;T;T;T	0.79141	1.66;1.66;-1.24;-1.24;1.66	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047837	0.85682	D	0.000000	D	0.84361	0.5455	M	0.92738	3.34	0.58432	D	0.99999	P;B;B	0.35155	0.487;0.249;0.429	B;B;B	0.39185	0.224;0.293;0.228	D	0.87239	0.2265	10	0.66056	D	0.02	-18.6328	14.8415	0.70230	1.0:0.0:0.0:0.0	.	158;321;276	B4DPS1;B8ZZN3;O75716	.;.;STK16_HUMAN	G	276;276;158;321;244	ENSP00000386928:D276G;ENSP00000379964:D276G;ENSP00000386309:D158G;ENSP00000387156:D321G;ENSP00000386553:D244G	ENSP00000379964:D276G	D	+	2	0	STK16	219821434	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.984000	0.56923	2.098000	0.63641	0.459000	0.35465	GAC		0.577	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1		
SPEG	10290	broad.mit.edu	37	2	220333406	220333406	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:220333406C>T	ENST00000312358.7	+	11	3381	c.3249C>T	c.(3247-3249)ttC>ttT	p.F1083F	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1083	Ig-like 5.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F1083F(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCCCGTTTCGACTGCAAGA	0.652																																					p.F1083F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3249T	2						.						70.0	79.0	76.0					2																	220333406		2074	4210	6284	220041650	SO:0001819	synonymous_variant	10290	exon11			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3249C>T	2.37:g.220333406C>T			220041650	NM_005876	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
FARSB	10056	broad.mit.edu	37	2	223464680	223464680	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:223464680C>A	ENST00000281828.6	-	16	1848	c.1585G>T	c.(1585-1587)Gac>Tac	p.D529Y	FARSB_ENST00000536361.1_Missense_Mutation_p.D430Y	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	529					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.D529Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	CCCCCCTTGTCTTCACCAGGA	0.453																																					p.D529Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1585T	2						.						196.0	173.0	181.0					2																	223464680		2203	4300	6503	223172924	SO:0001583	missense	10056	exon16			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	17800	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, beta, cytoplasmic"""	609690	"""phenylalanyl-tRNA synthetase-like, beta subunit"""	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1585G>T	2.37:g.223464680C>A	ENSP00000281828:p.Asp529Tyr		223172924	NM_005687	B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	ENST00000281828.6	37	CCDS2454.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752245	0.31046	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.62	3.54	0.40534	.	0.587506	0.20207	N	0.096964	T	0.42200	0.1192	L	0.43152	1.355	0.19300	N	0.999978	B;B	0.22346	0.033;0.068	B;B	0.33295	0.037;0.161	T	0.43605	-0.9381	9	0.62326	D	0.03	-1.9079	8.5699	0.33563	0.0:0.8357:0.0:0.1643	.	529;529	A8K666;Q9NSD9	.;SYFB_HUMAN	Y	529;430	.	ENSP00000281828:D529Y	D	-	1	0	FARSB	223172924	0.234000	0.23783	0.006000	0.13384	0.411000	0.31082	2.306000	0.43673	1.174000	0.42811	0.655000	0.94253	GAC		0.453	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256855.2	NM_005687	
SCG2	7857	broad.mit.edu	37	2	224462203	224462203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:224462203C>A	ENST00000305409.2	-	2	2030	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.E600*(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCTGCCTTTTCTTGGTTGAGG	0.443																																					p.E600X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1798T	2						.						149.0	149.0	149.0					2																	224462203		2203	4300	6503	224170447	SO:0001587	stop_gained	7857	exon2			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1798G>T	2.37:g.224462203C>A	ENSP00000304133:p.Glu600*		224170447	NM_003469	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000305409.2	37	CCDS2457.1	.	.	.	.	.	.	.	.	.	.	C	38	6.906704	0.97924	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	.	.	.	5.35	5.35	0.76521	.	0.057450	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0613	0.93095	0.0:1.0:0.0:0.0	.	.	.	.	X	600;460	.	ENSP00000304133:E600X	E	-	1	0	SCG2	224170447	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.403000	0.59729	2.515000	0.84797	0.585000	0.79938	GAA		0.443	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256870.2	NM_003469	
DOCK10	55619	broad.mit.edu	37	2	225652044	225652044	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:225652044G>A	ENST00000258390.7	-	49	5556	c.5489C>T	c.(5488-5490)gCt>gTt	p.A1830V	DOCK10_ENST00000409592.3_Missense_Mutation_p.A1824V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1830	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1828V(2)|p.A335V(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTTGACATCAGCAATGAGTTC	0.388																																					p.A1830V												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C5489T	2						.						171.0	167.0	169.0					2																	225652044		1960	4170	6130	225360288	SO:0001583	missense	55619	exon49			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5489C>T	2.37:g.225652044G>A	ENSP00000258390:p.Ala1830Val		225360288	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517167	0.96416	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.19250	2.16;2.16	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	L	0.55834	1.745	0.58432	D	0.999999	P;D;P;P	0.89917	0.774;1.0;0.949;0.894	P;D;P;P	0.76575	0.626;0.988;0.771;0.459	T	0.18335	-1.0340	10	0.66056	D	0.02	.	19.1076	0.93303	0.0:0.0:1.0:0.0	.	1830;651;1824;492	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	V	1824;1830;335	ENSP00000386694:A1824V;ENSP00000258390:A1830V	ENSP00000258390:A1830V	A	-	2	0	DOCK10	225360288	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.476000	0.97823	2.759000	0.94783	0.650000	0.86243	GCT		0.388	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
DOCK10	55619	broad.mit.edu	37	2	225672642	225672642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:225672642G>A	ENST00000258390.7	-	32	3638	c.3571C>T	c.(3571-3573)Cga>Tga	p.R1191*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.R1185*	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1191					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1189*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTCTGTATCGATCATCAAAT	0.423																																					p.R1191X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3571T	2						.						87.0	84.0	85.0					2																	225672642		1883	4104	5987	225380886	SO:0001587	stop_gained	55619	exon32			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3571C>T	2.37:g.225672642G>A	ENSP00000258390:p.Arg1191*		225380886	NM_014689	B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	37	6.412692	0.97546	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2452	0.93899	0.0:0.0:1.0:0.0	.	.	.	.	X	1185;1191	.	ENSP00000258390:R1191X	R	-	1	2	DOCK10	225380886	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.219000	0.78000	2.596000	0.87737	0.585000	0.79938	CGA		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1		
NYAP2	57624	broad.mit.edu	37	2	226378242	226378242	+	Missense_Mutation	SNP	G	G	T	rs61753537	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:226378242G>T	ENST00000272907.6	+	3	790	c.377G>T	c.(376-378)gGc>gTc	p.G126V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	126					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.G126V(2)									TCGGTTGGGGGCACAGACGAT	0.577																																					p.G126V												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G377T	2						.						63.0	74.0	70.0					2																	226378242		2108	4229	6337	226086486	SO:0001583	missense	57624	exon3			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.377G>T	2.37:g.226378242G>T	ENSP00000272907:p.Gly126Val		226086486	NM_020864	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376720	0.82682	.	.	ENSG00000144460	ENST00000272907	T	0.43688	0.94	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66508	-0.5906	10	0.62326	D	0.03	-29.3628	19.434	0.94783	0.0:0.0:1.0:0.0	.	126	Q9P242	K1486_HUMAN	V	126	ENSP00000272907:G126V	ENSP00000272907:G126V	G	+	2	0	KIAA1486	226086486	1.000000	0.71417	0.184000	0.23157	0.734000	0.41952	9.400000	0.97290	2.590000	0.87494	0.563000	0.77884	GGC		0.577	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
NYAP2	57624	broad.mit.edu	37	2	226446722	226446722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:226446722C>T	ENST00000272907.6	+	4	1002	c.589C>T	c.(589-591)Cga>Tga	p.R197*	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	197					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.R197*(1)|p.R197R(1)									CAAACCGAAGCGAAATCCGAA	0.498																																					p.R197X												.	.	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.C589T	2						.						118.0	123.0	121.0					2																	226446722		1929	4132	6061	226154966	SO:0001587	stop_gained	57624	exon4			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.589C>T	2.37:g.226446722C>T	ENSP00000272907:p.Arg197*		226154966	NM_020864	A2RRN4|Q96NL2	Nonsense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	37	6.120760	0.97300	.	.	ENSG00000144460	ENST00000272907	.	.	.	5.9	0.505	0.16953	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.5579	16.841	0.85968	0.6766:0.3234:0.0:0.0	.	.	.	.	X	197	.	ENSP00000272907:R197X	R	+	1	2	KIAA1486	226154966	0.969000	0.33509	0.086000	0.20670	0.450000	0.32258	0.667000	0.25112	0.075000	0.16796	0.644000	0.83932	CGA		0.498	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
NYAP2	57624	broad.mit.edu	37	2	226447518	226447518	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:226447518C>T	ENST00000272907.6	+	4	1798	c.1385C>T	c.(1384-1386)tCg>tTg	p.S462L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	462	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.S462L(1)									GCTGTGCATTCGGGCAGCCTC	0.617																																					p.S462L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1385T	2						.						45.0	49.0	48.0					2																	226447518		2033	4191	6224	226155762	SO:0001583	missense	57624	exon4			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1385C>T	2.37:g.226447518C>T	ENSP00000272907:p.Ser462Leu		226155762	NM_020864	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035283	0.35893	.	.	ENSG00000144460	ENST00000272907	T	0.32272	1.46	5.29	4.41	0.53225	.	0.746461	0.12713	N	0.445335	T	0.20941	0.0504	N	0.14661	0.345	0.31438	N	0.672293	B	0.14012	0.009	B	0.09377	0.004	T	0.11867	-1.0570	10	0.39692	T	0.17	-12.7319	13.7082	0.62653	0.0:0.9262:0.0:0.0738	.	462	Q9P242	K1486_HUMAN	L	462	ENSP00000272907:S462L	ENSP00000272907:S462L	S	+	2	0	KIAA1486	226155762	1.000000	0.71417	0.030000	0.17652	0.984000	0.73092	7.442000	0.80503	1.233000	0.43693	0.563000	0.77884	TCG		0.617	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
AGFG1	3267	broad.mit.edu	37	2	228398271	228398271	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:228398271G>T	ENST00000310078.8	+	7	1081	c.821G>T	c.(820-822)aGt>aTt	p.S274I	AGFG1_ENST00000409979.2_Missense_Mutation_p.S298I|AGFG1_ENST00000409171.1_Missense_Mutation_p.S274I|AGFG1_ENST00000373671.3_Missense_Mutation_p.S234I|AGFG1_ENST00000409315.1_Missense_Mutation_p.S274I	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	274					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S274I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						ACAGGTGGAAGTGCTGCATCA	0.373																																					p.S274I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G821T	2						.						80.0	75.0	77.0					2																	228398271		2203	4300	6503	228106515	SO:0001583	missense	3267	exon7				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.821G>T	2.37:g.228398271G>T	ENSP00000312059:p.Ser274Ile		228106515	NM_004504	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	ENST00000310078.8	37	CCDS2467.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543481	0.65198	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.27402	1.69;1.78;1.81;1.67;1.78	5.14	4.25	0.50352	.	0.171966	0.52532	D	0.000061	T	0.46795	0.1411	L	0.55481	1.735	0.41076	D	0.985485	D;D;P;D	0.76494	0.999;0.997;0.933;0.995	D;D;B;P	0.83275	0.996;0.944;0.441;0.88	T	0.36504	-0.9745	10	0.40728	T	0.16	-3.7793	9.7846	0.40668	0.1575:0.0:0.8425:0.0	.	234;274;298;274	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	I	298;283;274;274;234;274;196	ENSP00000387282:S298I;ENSP00000312059:S274I;ENSP00000387154:S274I;ENSP00000362775:S234I;ENSP00000387218:S274I	ENSP00000312059:S274I	S	+	2	0	AGFG1	228106515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.355000	0.44107	1.153000	0.42468	0.655000	0.94253	AGT		0.373	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256895.2	NM_004504	
SPHKAP	80309	broad.mit.edu	37	2	228882781	228882781	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:228882781G>A	ENST00000392056.3	-	7	2835	c.2789C>T	c.(2788-2790)gCg>gTg	p.A930V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	930	PKA-RII subunit binding domain. {ECO:0000250}.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A930V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAATTCTTCCGCAAAGTCTGT	0.473																																					p.A930V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2789T	2						.						192.0	174.0	180.0					2																	228882781		2203	4300	6503	228591025	SO:0001583	missense	80309	exon7				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2789C>T	2.37:g.228882781G>A	ENSP00000375909:p.Ala930Val		228591025	NM_001142644	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036317	0.75617	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.27557	1.68;1.66	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61058	-0.7139	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	930;930	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	930	ENSP00000375909:A930V;ENSP00000339886:A930V	ENSP00000339886:A930V	A	-	2	0	SPHKAP	228591025	1.000000	0.71417	0.980000	0.43619	0.385000	0.30292	9.096000	0.94182	2.894000	0.99253	0.655000	0.94253	GCG		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
PID1	55022	broad.mit.edu	37	2	229890417	229890417	+	Silent	SNP	G	G	A	rs147151232		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:229890417G>A	ENST00000354069.6	-	3	714	c.684C>T	c.(682-684)agC>agT	p.S228S	PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Silent_p.S146S|PID1_ENST00000392054.3_Silent_p.S226S|PID1_ENST00000392055.3_Silent_p.S195S			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	228	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S226S(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TCCGCCCGTCGCTCTTCATAC	0.562																																					p.S195S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C585T	2						.	G	,	0,4406		0,0,2203	102.0	97.0	98.0		585,678	-4.8	0.6	2	dbSNP_134	98	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	PID1	NM_001100818.1,NM_017933.4	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	195/218,226/249	229890417	3,13003	2203	4300	6503	229598661	SO:0001819	synonymous_variant	55022	exon3			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.684C>T	2.37:g.229890417G>A			229598661	NM_001100818	B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	ENST00000354069.6	37																																																																																					0.562	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933	
DNER	92737	broad.mit.edu	37	2	230341869	230341869	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:230341869G>A	ENST00000341772.4	-	7	1382	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	416	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)	p.C416C(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTGGACACTGGCAGGTGAATC	0.373																																					p.C416C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1248T	2						.						72.0	72.0	72.0					2																	230341869		2203	4300	6503	230050113	SO:0001819	synonymous_variant	92737	exon7			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1248C>T	2.37:g.230341869G>A			230050113	NM_139072	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	ENST00000341772.4	37	CCDS33390.1																																																																																				0.373	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072	
TRIP12	9320	broad.mit.edu	37	2	230723710	230723710	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:230723710C>A	ENST00000283943.5	-	3	857	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	TRIP12_ENST00000409677.1_Missense_Mutation_p.D269Y|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.D269Y|TRIP12_ENST00000389044.4_Missense_Mutation_p.D269Y	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	227					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.D227Y(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGTTCTGATCTTTTCCTTGT	0.522																																					p.D227Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G679T	2						.						104.0	93.0	97.0					2																	230723710		2203	4300	6503	230431954	SO:0001583	missense	9320	exon3			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.679G>T	2.37:g.230723710C>A	ENSP00000283943:p.Asp227Tyr		230431954	NM_004238	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233782	0.58886	.	.	ENSG00000153827	ENST00000283943;ENST00000389044;ENST00000543084;ENST00000409677;ENST00000453485	T;T	0.47177	0.86;0.85	5.78	4.91	0.64330	.	0.091969	0.64402	D	0.000001	T	0.49304	0.1549	N	0.24115	0.695	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.99	D;D;P	0.80764	0.994;0.964;0.841	T	0.42749	-0.9433	10	0.02654	T	1	.	14.8733	0.70474	0.0:0.9311:0.0:0.0689	.	227;269;227	D4HL82;Q14CA3;Q14669	.;.;TRIPC_HUMAN	Y	227;269;269;269;97	ENSP00000283943:D227Y;ENSP00000373696:D269Y	ENSP00000283943:D227Y	D	-	1	0	TRIP12	230431954	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.456000	0.80751	1.457000	0.47850	-0.140000	0.14226	GAT		0.522	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
SP140	11262	broad.mit.edu	37	2	231134263	231134263	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:231134263A>T	ENST00000392045.3	+	13	1371	c.1257A>T	c.(1255-1257)gaA>gaT	p.E419D	SP140_ENST00000417495.3_Missense_Mutation_p.E305D|SP140_ENST00000486687.2_Missense_Mutation_p.E343D|SP140_ENST00000350136.5_Missense_Mutation_p.E288D|SP140_ENST00000343805.6_Missense_Mutation_p.E359D|SP140_ENST00000420434.3_Missense_Mutation_p.E392D	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	419					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E419D(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTGAACTAGAAAATCACCCAA	0.373																																					p.E419D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1257T	2						.						111.0	110.0	110.0					2																	231134263		1841	4092	5933	230842507	SO:0001583	missense	11262	exon13			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1257A>T	2.37:g.231134263A>T	ENSP00000375899:p.Glu419Asp		230842507	NM_007237	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	A	6.621	0.483072	0.12581	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.65364	-0.09;0.74;-0.15;0.09;0.34	2.67	-1.56	0.08532	.	.	.	.	.	T	0.28896	0.0717	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25105	0.118;0.015;0.026;0.015	B;B;B;B	0.21151	0.033;0.007;0.015;0.007	T	0.16689	-1.0394	9	0.10636	T	0.68	.	0.2488	0.00202	0.3901:0.222:0.1484:0.2395	.	392;305;359;419	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	D	343;288;419;305;359;392	ENSP00000440107:E343D;ENSP00000345846:E288D;ENSP00000375899:E419D;ENSP00000342096:E359D;ENSP00000398210:E392D	ENSP00000342096:E359D	E	+	3	2	SP140	230842507	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.068000	0.14531	-0.294000	0.08973	0.449000	0.29647	GAA		0.373	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
SP100	6672	broad.mit.edu	37	2	231379859	231379859	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:231379859T>G	ENST00000264052.5	+	25	2499	c.2144T>G	c.(2143-2145)tTt>tGt	p.F715C	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	715					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.F715C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTCTCAGAGTTTTTAAAGAAG	0.388																																					p.F715C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2144G	2						.						49.0	52.0	51.0					2																	231379859		2203	4299	6502	231088103	SO:0001583	missense	6672	exon25			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.2144T>G	2.37:g.231379859T>G	ENSP00000264052:p.Phe715Cys		231088103	NM_003113	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823720	0.32237	.	.	ENSG00000067066	ENST00000264052	T	0.17213	2.29	0.158	0.158	0.14942	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.45716	0.1356	H	0.95079	3.62	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.41179	-0.9523	9	0.87932	D	0	.	4.6578	0.12626	0.0:4.0E-4:0.0:0.9996	.	715	P23497	SP100_HUMAN	C	715	ENSP00000264052:F715C	ENSP00000264052:F715C	F	+	2	0	SP100	231088103	1.000000	0.71417	0.010000	0.14722	0.010000	0.07245	5.413000	0.66399	0.175000	0.19841	0.172000	0.16884	TTT		0.388	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113	
ARMC9	80210	broad.mit.edu	37	2	232135768	232135768	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:232135768T>G	ENST00000349938.4	+	13	1387	c.1193T>G	c.(1192-1194)tTt>tGt	p.F398C	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	398						extracellular vesicular exosome (GO:0070062)		p.F398C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		ATCAATGCTTTTGCGTCACTG	0.493																																					p.F398C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1193G	2						.						100.0	81.0	88.0					2																	232135768		2203	4300	6503	231844012	SO:0001583	missense	80210	exon13			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1193T>G	2.37:g.232135768T>G	ENSP00000258417:p.Phe398Cys		231844012	NM_025139	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Missense_Mutation	SNP	ENST00000349938.4	37	CCDS2484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.47|17.47	3.398181|3.398181	0.62177|0.62177	.|.	.|.	ENSG00000135931|ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339;ENST00000446447|ENST00000424740	T;T;T|.	0.51325|.	0.71;0.71;0.71|.	4.56|4.56	4.56|4.56	0.56223|0.56223	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.163679|.	0.56097|.	D|.	0.000036|.	T|T	0.52885|0.52885	0.1762|0.1762	L|L	0.56769|0.56769	1.78|1.78	0.25904|0.25904	N|N	0.983319|0.983319	B|.	0.18013|.	0.025|.	B|.	0.21708|.	0.036|.	T|T	0.46721|0.46721	-0.9171|-0.9171	10|5	0.56958|.	D|.	0.05|.	-3.9794|-3.9794	12.1329|12.1329	0.53952|0.53952	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	398|.	Q7Z3E5|.	ARMC9_HUMAN|.	C|V	398;398;115;40|101	ENSP00000258417:F398C;ENSP00000392086:F115C;ENSP00000411778:F40C|.	ENSP00000258417:F398C|.	F|L	+|+	2|1	0|2	ARMC9|ARMC9	231844012|231844012	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.983000|0.983000	0.72400|0.72400	7.309000|7.309000	0.78937|0.78937	2.000000|2.000000	0.58554|0.58554	0.528000|0.528000	0.53228|0.53228	TTT|TTG		0.493	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	
NCL	4691	broad.mit.edu	37	2	232326593	232326593	+	Missense_Mutation	SNP	C	C	T	rs148336235		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:232326593C>T	ENST00000322723.4	-	3	511	c.271G>A	c.(271-273)Gca>Aca	p.A91T	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	91	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.A91T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		GCAGGTGTTGCTGCTGCCTTT	0.517																																					p.A91T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G271A	2						.	C	THR/ALA	0,4406		0,0,2203	200.0	190.0	194.0		271	4.9	0.0	2	dbSNP_134	194	2,8598	1.2+/-3.3	0,2,4298	no	missense	NCL	NM_005381.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	91/711	232326593	2,13004	2203	4300	6503	232034837	SO:0001583	missense	4691	exon3				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.271G>A	2.37:g.232326593C>T	ENSP00000318195:p.Ala91Thr		232034837	NM_005381	Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036328	0.35893	0.0	2.33E-4	ENSG00000115053	ENST00000322723;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.27720	3.1;3.18;3.18;3.18;1.65	5.74	4.86	0.63082	.	0.379952	0.29916	N	0.010871	T	0.23886	0.0578	L	0.29908	0.895	0.30099	N	0.807657	P	0.42871	0.792	B	0.37650	0.255	T	0.21999	-1.0229	10	0.87932	D	0	-0.9361	14.329	0.66541	0.0:0.9276:0.0:0.0724	.	91	P19338	NUCL_HUMAN	T	91;91;75;75;75;75	ENSP00000318195:A91T;ENSP00000401620:A75T;ENSP00000392747:A75T;ENSP00000413775:A75T;ENSP00000401322:A75T	ENSP00000318195:A91T	A	-	1	0	NCL	232034837	0.966000	0.33281	0.035000	0.18076	0.428000	0.31595	4.076000	0.57591	2.734000	0.93682	0.650000	0.86243	GCA		0.517	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	
DIS3L2	129563	broad.mit.edu	37	2	232952349	232952349	+	Silent	SNP	C	C	T	rs143680532	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:232952349C>T	ENST00000409307.1	+	5	519	c.519C>T	c.(517-519)agC>agT	p.S173S	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000273009.6_Silent_p.S173S|DIS3L2_ENST00000409401.3_Silent_p.S173S|DIS3L2_ENST00000360410.4_Silent_p.S173S|DIS3L2_ENST00000325385.7_Silent_p.S173S					DIS3 like 3'-5' exoribonuclease 2									p.S173S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTGATGGCAGCGACTCAGAAG	0.458													C|||	2	0.000399361	0.0	0.0	5008	,	,		19830	0.002		0.0	False		,,,				2504	0.0				p.S173S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C519T	2						.						84.0	87.0	86.0					2																	232952349		2049	4198	6247	232660593	SO:0001819	synonymous_variant	129563	exon6			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.519C>T	2.37:g.232952349C>T			232660593	NM_152383		Silent	SNP	ENST00000409307.1	37	CCDS42834.1																																																																																				0.458	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
CHRND	1144	broad.mit.edu	37	2	233393337	233393337	+	Silent	SNP	C	C	T	rs200986300	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:233393337C>T	ENST00000258385.3	+	5	512	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CHRND_ENST00000457943.2_Missense_Mutation_p.S70L|CHRND_ENST00000536614.1_Silent_p.F160F|CHRND_ENST00000543200.1_Silent_p.F145F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	160					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.F160F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ATTTCCCCTTCGACTGGCAGA	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		18768	0.001		0.0	False		,,,				2504	0.001				p.F160F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C480T	2						.						151.0	133.0	139.0					2																	233393337		2203	4300	6503	233101581	SO:0001819	synonymous_variant	1144	exon5			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.480C>T	2.37:g.233393337C>T			233101581	NM_000751	A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	CCDS2494.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.602	0.295835	0.10622	.	.	ENSG00000135902	ENST00000457943	D	0.85088	-1.94	4.46	-0.502	0.12004	.	.	.	.	.	T	0.63768	0.2539	.	.	.	0.26732	N	0.970561	B	0.06786	0.001	B	0.04013	0.001	T	0.51663	-0.8677	8	0.02654	T	1	.	8.4683	0.32969	0.0:0.3396:0.0:0.6604	.	70	B4E3W4	.	L	70	ENSP00000391055:S70L	ENSP00000391055:S70L	S	+	2	0	CHRND	233101581	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-1.873000	0.01637	-0.003000	0.14444	-0.224000	0.12420	TCG		0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2		
INPP5D	3635	broad.mit.edu	37	2	234078674	234078674	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234078674G>A	ENST00000359570.5	+	17	1619	c.1619G>A	c.(1618-1620)cGa>cAa	p.R540Q	INPP5D_ENST00000538935.1_Missense_Mutation_p.R539Q|INPP5D_ENST00000455936.2_Missense_Mutation_p.R304Q|INPP5D_ENST00000450745.1_Missense_Mutation_p.R304Q			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	552					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.R552Q(2)		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)		TGCATTAGGCGAAACCAAAAC	0.547																																					p.E394K	NSCLC(82;1215 1426 16163 20348 41018)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1180A	2						.						138.0	144.0	142.0					2																	234078674		2058	4184	6242	233742738	SO:0001583	missense	3635	exon10			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.1619G>A	2.37:g.234078674G>A	ENSP00000352575:p.Arg540Gln		233742738	NM_005541	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	G	31	5.076865	0.94000	.	.	ENSG00000168918	ENST00000359570;ENST00000538935;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	4.75	4.75	0.60458	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.134765	0.48767	D	0.000178	D	0.99127	0.9699	.	.	.	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.943	D	0.99698	1.1003	9	0.87932	D	0	.	17.7644	0.88473	0.0:0.0:1.0:0.0	.	551;552	Q92835-2;Q92835	.;SHIP1_HUMAN	Q	540;539;304;304;173;173;173	ENSP00000352575:R540Q;ENSP00000441010:R539Q;ENSP00000407916:R304Q;ENSP00000404610:R304Q;ENSP00000400151:R173Q;ENSP00000397421:R173Q;ENSP00000405338:R173Q	ENSP00000352575:R540Q	R	+	2	0	INPP5D	233742738	1.000000	0.71417	0.904000	0.35570	0.790000	0.44656	9.356000	0.97091	2.192000	0.70111	0.561000	0.74099	CGA		0.547	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915	
ATG16L1	55054	broad.mit.edu	37	2	234189798	234189798	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234189798A>G	ENST00000392017.4	+	11	1365	c.1108A>G	c.(1108-1110)Aca>Gca	p.T370A	ATG16L1_ENST00000392020.4_Missense_Mutation_p.T351A|ATG16L1_ENST00000373525.5_Missense_Mutation_p.T191A|ATG16L1_ENST00000347464.5_Missense_Mutation_p.T207A|ATG16L1_ENST00000392018.1_Missense_Mutation_p.T387A|ATG16L1_ENST00000498620.1_3'UTR	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	370					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.T370A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGCAGGAATTACAAGCATTGA	0.279																																					p.T351A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1051G	2						.						95.0	101.0	99.0					2																	234189798		2203	4300	6503	233854537	SO:0001583	missense	55054	exon10			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1108A>G	2.37:g.234189798A>G	ENSP00000375872:p.Thr370Ala		233854537	NM_017974	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	A	21.9	4.223023	0.79464	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.63417	-0.04;-0.04;2.09;-0.04;-0.04	5.42	4.24	0.50183	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	0.76695	0.4023	M	0.80332	2.49	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.999;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.932;0.997;0.999;0.998;0.999	T	0.74411	-0.3674	10	0.16896	T	0.51	.	12.4653	0.55755	0.8601:0.1399:0.0:0.0	.	324;351;191;370;207	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	A	370;207;191;351;387;29	ENSP00000375872:T370A;ENSP00000318259:T207A;ENSP00000362625:T191A;ENSP00000375875:T351A;ENSP00000375873:T387A	ENSP00000334016:T29A	T	+	1	0	ATG16L1	233854537	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.454000	0.90352	0.861000	0.35504	0.533000	0.62120	ACA		0.279	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974	
ATG16L1	55054	broad.mit.edu	37	2	234198983	234198983	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234198983C>T	ENST00000392017.4	+	14	1671	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	ATG16L1_ENST00000392020.4_Missense_Mutation_p.R453C|ATG16L1_ENST00000373525.5_Missense_Mutation_p.R293C|SCARNA6_ENST00000515982.1_RNA|ATG16L1_ENST00000347464.5_Missense_Mutation_p.R309C|ATG16L1_ENST00000392018.1_Missense_Mutation_p.R489C	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	472					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.R472C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		CAAGAAAATTCGTTTCTGGGA	0.418																																					p.R453C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1357T	2						.						197.0	181.0	187.0					2																	234198983		2203	4300	6503	233863722	SO:0001583	missense	55054	exon13			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1414C>T	2.37:g.234198983C>T	ENSP00000375872:p.Arg472Cys		233863722	NM_017974	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469138	0.84533	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.9	4.12	0.48240	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56093	0.1962	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.998;0.999	T	0.63721	-0.6573	10	0.87932	D	0	.	12.7984	0.57571	0.0:0.8679:0.0:0.1321	.	426;453;293;472;309	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	C	472;309;293;453;489;131	ENSP00000375872:R472C;ENSP00000318259:R309C;ENSP00000362625:R293C;ENSP00000375875:R453C;ENSP00000375873:R489C	ENSP00000334016:R131C	R	+	1	0	ATG16L1	233863722	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	5.866000	0.69590	0.839000	0.34971	-0.145000	0.13849	CGT		0.418	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974	
USP40	55230	broad.mit.edu	37	2	234420362	234420362	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234420362G>A	ENST00000427112.2	-	19	2551	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L	USP40_ENST00000450966.1_Missense_Mutation_p.S851L|USP40_ENST00000251722.6_Missense_Mutation_p.S839L|USP40_ENST00000409945.1_Missense_Mutation_p.S15L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	839					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.S851L(4)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACCTGAGACGAACTTGGTGC	0.363																																					p.R771C												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C2311T	2						.						113.0	102.0	106.0					2																	234420362		1848	4095	5943	234085101	SO:0001583	missense	55230	exon18			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2516C>T	2.37:g.234420362G>A	ENSP00000387898:p.Ser839Leu		234085101	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368371|3.368371	0.61513|0.61513	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000430158|ENST00000450966;ENST00000251722;ENST00000427112;ENST00000409945	.|T;T;T;T	.|0.54866	.|0.55;0.55;0.55;0.55	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|1.574940	.|0.04106	.|N	.|0.313785	T|T	0.65913|0.65913	0.2737|0.2737	M|M	0.62723|0.62723	1.935|1.935	0.26592|0.26592	N|N	0.973182|0.973182	.|P;P;D;P	.|0.61080	.|0.878;0.926;0.989;0.948	.|B;B;P;B	.|0.50537	.|0.228;0.404;0.643;0.397	T|T	0.59731|0.59731	-0.7399|-0.7399	5|10	.|0.66056	.|D	.|0.02	.|.	15.2843|15.2843	0.73816|0.73816	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|839;851;15;495	.|Q9NVE5;Q9NVE5-3;Q9NVE5-2;B4DN96	.|UBP40_HUMAN;.;.;.	C|L	15|851;839;839;15	.|ENSP00000415434:S851L;ENSP00000251722:S839L;ENSP00000387898:S839L;ENSP00000386664:S15L	.|ENSP00000251722:S839L	R|S	-|-	1|2	0|0	USP40|USP40	234085101|234085101	1.000000|1.000000	0.71417|0.71417	0.901000|0.901000	0.35422|0.35422	0.915000|0.915000	0.54546|0.54546	5.238000|5.238000	0.65366|0.65366	2.409000|2.409000	0.81822|0.81822	0.585000|0.585000	0.79938|0.79938	CGT|TCG		0.363	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
USP40	55230	broad.mit.edu	37	2	234429742	234429742	+	Missense_Mutation	SNP	C	C	A	rs201971737|rs77874579		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234429742C>A	ENST00000427112.2	-	16	2252	c.2217G>T	c.(2215-2217)gaG>gaT	p.E739D	USP40_ENST00000450966.1_Missense_Mutation_p.E751D|USP40_ENST00000251722.6_Missense_Mutation_p.E739D			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	739					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.E751D(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TGACCCATTTCTCTTCCTTGG	0.363																																					p.R671I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2012T	2						.						86.0	79.0	82.0					2																	234429742		1844	4082	5926	234094481	SO:0001583	missense	55230	exon15			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2217G>T	2.37:g.234429742C>A	ENSP00000387898:p.Glu739Asp		234094481	NM_018218	Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	C	4.814	0.151294	0.09185	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.28	4.35	0.52113	.	2.303910	0.01545	N	0.019397	T	0.39036	0.1063	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.11329	0.003;0.006	T	0.21827	-1.0234	10	0.12430	T	0.62	.	14.747	0.69496	0.0:0.8414:0.1586:0.0	.	739;751	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	D	751;739;739;34	ENSP00000415434:E751D;ENSP00000251722:E739D;ENSP00000387898:E739D;ENSP00000408853:E34D	ENSP00000251722:E739D	E	-	3	2	USP40	234094481	0.096000	0.21769	0.846000	0.33378	0.406000	0.30931	1.085000	0.30840	2.476000	0.83614	0.585000	0.79938	GAG		0.363	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
UGT1A7	54577	broad.mit.edu	37	2	234591344	234591344	+	Missense_Mutation	SNP	G	G	A	rs144940363		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234591344G>A	ENST00000373426.3	+	1	761	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	254					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.R254Q(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TGGTTGTTGCGAACTGACTTT	0.423																																					p.R254Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G761A	2						.	G	,,GLN/ARG,	0,4406		0,0,2203	189.0	191.0	191.0		,,761,	3.6	0.2	2	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	yes	intron,intron,missense,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A9	NM_019075.2,NM_019076.4,NM_019077.2,NM_021027.2	,,43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	,,254/531,	234591344	1,13005	2203	4300	6503	234256083	SO:0001583	missense	54577	exon1			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.761G>A	2.37:g.234591344G>A	ENSP00000362525:p.Arg254Gln		234256083	NM_019077	B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.32|16.32	3.090612|3.090612	0.55968|0.55968	0.0|0.0	1.16E-4|1.16E-4	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.06849	.|3.25	3.59|3.59	3.59|3.59	0.41128|0.41128	.|.	.|.	.|.	.|.	.|.	T|T	0.26376|0.26376	0.0644|0.0644	M|M	0.71871|0.71871	2.18|2.18	0.27814|0.27814	N|N	0.942041|0.942041	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.01805|0.01805	-1.1270|-1.1270	5|9	.|0.72032	.|D	.|0.01	.|.	11.2398|11.2398	0.48962|0.48962	0.0939:0.0:0.9061:0.0|0.0939:0.0:0.9061:0.0	.|.	.|254;254	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	K|Q	111|254	.|ENSP00000362525:R254Q	.|ENSP00000362525:R254Q	E|R	+|+	1|2	0|0	UGT1A7|UGT1A7	234256083|234256083	0.668000|0.668000	0.27493|0.27493	0.220000|0.220000	0.23810|0.23810	0.297000|0.297000	0.27493|0.27493	3.851000|3.851000	0.55926|0.55926	1.860000|1.860000	0.53959|0.53959	0.485000|0.485000	0.47835|0.47835	GAA|CGA		0.423	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077	
UGT1A3	54659	broad.mit.edu	37	2	234637983	234637983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234637983G>T	ENST00000482026.1	+	1	230	c.211G>T	c.(211-213)Gaa>Taa	p.E71*	UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609767.1_Nonsense_Mutation_p.E71*			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	71					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)	p.E71*(1)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GCACATCAAAGAAGAGAACTT	0.537																																					p.E71X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G211T	2						.						102.0	103.0	102.0					2																	234637983		2203	4300	6503	234302722	SO:0001587	stop_gained	54659	exon1			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.211G>T	2.37:g.234637983G>T	ENSP00000418532:p.Glu71*		234302722	NM_019093	B8K287	Nonsense_Mutation	SNP	ENST00000482026.1	37	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517347	0.44763	.	.	ENSG00000243135	ENST00000482026	.	.	.	4.31	-1.22	0.09494	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7505	0.18144	0.2909:0.2263:0.4828:0.0	.	.	.	.	X	71	.	ENSP00000418532:E71X	E	+	1	0	UGT1A3	234302722	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.178000	0.09782	-0.260000	0.09418	-0.244000	0.11960	GAA		0.537	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093	
TRPM8	79054	broad.mit.edu	37	2	234835191	234835191	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234835191T>C	ENST00000324695.4	+	2	49	c.9T>C	c.(7-9)ttT>ttC	p.F3F	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	3					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.F3F(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGATGTCCTTTCGGGCAGCCA	0.527																																					p.F3F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T9C	2						.						117.0	110.0	113.0					2																	234835191		2203	4300	6503	234499930	SO:0001819	synonymous_variant	79054	exon2			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.9T>C	2.37:g.234835191T>C			234499930	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	CCDS33407.1																																																																																				0.527	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
TRPM8	79054	broad.mit.edu	37	2	234847746	234847746	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234847746C>T	ENST00000324695.4	+	5	493	c.453C>T	c.(451-453)ggC>ggT	p.G151G	TRPM8_ENST00000409625.1_Silent_p.G74G|TRPM8_ENST00000355722.4_Silent_p.G101G|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	151					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.G151G(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGACCGGGGGCGCCAAGAACT	0.607																																					p.G151G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C453T	2						.						46.0	48.0	47.0					2																	234847746		2203	4300	6503	234512485	SO:0001819	synonymous_variant	79054	exon5			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.453C>T	2.37:g.234847746C>T			234512485	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	CCDS33407.1																																																																																				0.607	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
TRPM8	79054	broad.mit.edu	37	2	234869596	234869596	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:234869596G>T	ENST00000324695.4	+	12	1579	c.1539G>T	c.(1537-1539)aaG>aaT	p.K513N	TRPM8_ENST00000433712.2_Missense_Mutation_p.K201N	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	513					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.K513N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGATCGCCAAGAATTCCTATA	0.507																																					p.K513N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1539T	2						.						115.0	98.0	103.0					2																	234869596		2203	4300	6503	234534335	SO:0001583	missense	79054	exon12			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1539G>T	2.37:g.234869596G>T	ENSP00000323926:p.Lys513Asn		234534335	NM_024080	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660627	0.67586	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.59906	0.23;0.27	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	T	0.73806	0.3634	M	0.64080	1.96	0.50632	D	0.999884	D;P	0.57899	0.981;0.842	D;B	0.67231	0.95;0.321	T	0.72656	-0.4227	10	0.49607	T	0.09	-38.3272	18.6269	0.91344	0.0:0.0:1.0:0.0	.	201;513	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	N	513;201	ENSP00000323926:K513N;ENSP00000404423:K201N	ENSP00000323926:K513N	K	+	3	2	TRPM8	234534335	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.489000	0.45285	2.735000	0.93741	0.655000	0.94253	AAG		0.507	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
SH3BP4	23677	broad.mit.edu	37	2	235951000	235951000	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:235951000C>T	ENST00000409212.1	+	4	2094	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	SH3BP4_ENST00000392011.2_Silent_p.F529F|SH3BP4_ENST00000344528.4_Silent_p.F529F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	529					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.F529F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGCACCAGTTCGTTTTGTCCA	0.592																																					p.F529F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1587T	2						.						66.0	69.0	68.0					2																	235951000		2203	4300	6503	235615739	SO:0001819	synonymous_variant	23677	exon4			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1587C>T	2.37:g.235951000C>T			235615739	NM_014521	O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	ENST00000409212.1	37	CCDS2513.1																																																																																				0.592	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1		
AGAP1	116987	broad.mit.edu	37	2	236792017	236792017	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:236792017C>T	ENST00000304032.8	+	10	1659	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	AGAP1_ENST00000428334.2_Missense_Mutation_p.S199L|AGAP1_ENST00000336665.5_Missense_Mutation_p.S360L|AGAP1_ENST00000409538.1_Missense_Mutation_p.S625L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	360	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)	p.S360L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGTGGCAAATCGTTGAATAAA	0.418																																					p.S360L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1079T	2						.						120.0	109.0	113.0					2																	236792017		2203	4300	6503	236456756	SO:0001583	missense	116987	exon10			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1079C>T	2.37:g.236792017C>T	ENSP00000307634:p.Ser360Leu		236456756	NM_001037131	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986892	0.93106	.	.	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.19532	2.14;2.14;2.14;2.14	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.070349	0.64402	D	0.000014	T	0.44561	0.1299	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.998;0.989	P;P	0.55391	0.748;0.775	T	0.48479	-0.9032	10	0.72032	D	0.01	.	18.1477	0.89663	0.0:1.0:0.0:0.0	.	360;360	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	L	360;360;625;199	ENSP00000307634:S360L;ENSP00000338378:S360L;ENSP00000386897:S625L;ENSP00000411824:S199L	ENSP00000307634:S360L	S	+	2	0	AGAP1	236456756	1.000000	0.71417	0.229000	0.23960	0.869000	0.49853	7.181000	0.77682	2.652000	0.90054	0.655000	0.94253	TCG		0.418	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
COL6A3	1293	broad.mit.edu	37	2	238244998	238244998	+	Silent	SNP	C	C	T	rs112382351	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:238244998C>T	ENST00000295550.4	-	40	9197	c.8745G>A	c.(8743-8745)gcG>gcA	p.A2915A	COL6A3_ENST00000347401.3_Silent_p.A2714A|COL6A3_ENST00000353578.4_Silent_p.A2709A|COL6A3_ENST00000346358.4_Silent_p.A2715A|COL6A3_ENST00000472056.1_Silent_p.A2308A|COL6A3_ENST00000409809.1_Silent_p.A2709A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2915	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A2915A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACAGGTTTCGCAGGGGCCG	0.572													T|||	16	0.00319489	0.0106	0.0029	5008	,	,		15921	0.0		0.0	False		,,,				2504	0.0				p.A2308A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6924A	2						.	T	,,	35,4307		0,35,2136	68.0	84.0	79.0		8745,6924,8127	-10.5	0.0	2	dbSNP_132	79	2,8490		0,2,4244	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,37,6380	TT,TC,CC		0.0236,0.8061,0.2883	,,	2915/3178,2308/2571,2709/2972	238244998	37,12797	2171	4246	6417	237909737	SO:0001819	synonymous_variant	1293	exon37			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8745G>A	2.37:g.238244998C>T			237909737	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.572	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238285681	238285681	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:238285681C>T	ENST00000295550.4	-	7	3256	c.2804G>A	c.(2803-2805)cGg>cAg	p.R935Q	COL6A3_ENST00000347401.3_Missense_Mutation_p.R734Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R729Q|COL6A3_ENST00000392004.3_Missense_Mutation_p.R729Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R735Q|COL6A3_ENST00000392003.2_Missense_Mutation_p.R528Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R328Q|COL6A3_ENST00000409809.1_Missense_Mutation_p.R729Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	935	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R935Q(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCCTCGATCCGGCTGCCAGC	0.547																																					p.R328Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G983A	2						.						100.0	83.0	89.0					2																	238285681		2203	4300	6503	237950420	SO:0001583	missense	1293	exon4			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2804G>A	2.37:g.238285681C>T	ENSP00000295550:p.Arg935Gln		237950420	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699873	0.88924	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.55	5.55	0.83447	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000059	D	0.83202	0.5203	M	0.93241	3.395	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.995;0.999;0.999;0.999	D	0.87315	0.2314	10	0.87932	D	0	.	19.4964	0.95075	0.0:1.0:0.0:0.0	.	735;328;528;729;729;935	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	Q	935;734;729;328;729;735;729;528	ENSP00000295550:R935Q;ENSP00000315609:R734Q;ENSP00000315873:R729Q;ENSP00000418285:R328Q;ENSP00000386844:R729Q;ENSP00000295546:R735Q;ENSP00000375861:R729Q;ENSP00000375860:R528Q	ENSP00000295550:R935Q	R	-	2	0	COL6A3	237950420	1.000000	0.71417	0.965000	0.40720	0.212000	0.24457	7.737000	0.84957	2.610000	0.88304	0.655000	0.94253	CGG		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
COL6A3	1293	broad.mit.edu	37	2	238296822	238296822	+	Missense_Mutation	SNP	C	C	A	rs570013541		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:238296822C>A	ENST00000295550.4	-	4	1167	c.715G>T	c.(715-717)Gac>Tac	p.D239Y	COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.D33Y|COL6A3_ENST00000392004.3_Missense_Mutation_p.D33Y|COL6A3_ENST00000346358.4_Missense_Mutation_p.D239Y|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.D33Y	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	239	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D239Y(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCAGCAGAGTCTTGTGCTTTA	0.358																																					p.D33Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97T	2						.						33.0	36.0	35.0					2																	238296822		2202	4300	6502	237961561	SO:0001583	missense	1293	exon3			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.715G>T	2.37:g.238296822C>A	ENSP00000295550:p.Asp239Tyr		237961561	NM_057167	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.071813	0.55646	.	.	ENSG00000163359	ENST00000295550;ENST00000353578;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000433762	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;0.12	5.44	5.44	0.79542	.	0.135445	0.32002	U	0.006727	D	0.84083	0.5394	L	0.40543	1.245	0.28023	N	0.934457	D;P;D;D	0.76494	0.998;0.942;0.999;0.998	P;P;D;P	0.70227	0.87;0.756;0.968;0.87	T	0.79117	-0.1935	10	0.56958	D	0.05	.	19.2652	0.93983	0.0:1.0:0.0:0.0	.	239;33;33;239	E9PCV6;E9PGQ9;P12111-2;P12111	.;.;.;CO6A3_HUMAN	Y	239;33;33;239;33;239	ENSP00000295550:D239Y;ENSP00000315873:D33Y;ENSP00000386844:D33Y;ENSP00000295546:D239Y;ENSP00000375861:D33Y;ENSP00000389539:D239Y	ENSP00000295550:D239Y	D	-	1	0	COL6A3	237961561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.548000	0.85928	0.655000	0.94253	GAC		0.358	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
LRRFIP1	9208	broad.mit.edu	37	2	238668804	238668804	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:238668804A>C	ENST00000392000.4	+	10	962	c.845A>C	c.(844-846)aAa>aCa	p.K282T	LRRFIP1_ENST00000308482.9_Missense_Mutation_p.K472T|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K226T|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.K258T	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	282					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.K282T(1)|p.K258T(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AAGATGACAAAAGAAGAGTTA	0.448																																					p.K282T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A845C	2						.						104.0	99.0	101.0					2																	238668804		2203	4300	6503	238333543	SO:0001583	missense	9208	exon10			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.845A>C	2.37:g.238668804A>C	ENSP00000375857:p.Lys282Thr		238333543	NM_001137552	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966125	0.53507	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000392000	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.41	1.41	0.22369	.	0.274240	0.39687	N	0.001282	T	0.43567	0.1253	L	0.28115	0.83	0.09310	N	1	B;D;D;D;B	0.89917	0.238;0.998;1.0;0.998;0.146	B;D;D;D;B	0.77004	0.186;0.959;0.989;0.962;0.186	T	0.26643	-1.0097	10	0.31617	T	0.26	-19.0342	7.5286	0.27671	0.5101:0.414:0.0759:0.0	.	226;226;282;258;472	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	T	472;226;462;258;282	ENSP00000310109:K472T;ENSP00000289175:K226T;ENSP00000244815:K258T;ENSP00000375857:K282T	ENSP00000244815:K258T	K	+	2	0	LRRFIP1	238333543	0.715000	0.27946	0.020000	0.16555	0.082000	0.17680	1.254000	0.32897	0.059000	0.16252	0.533000	0.62120	AAA		0.448	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	
RBM44	375316	broad.mit.edu	37	2	238726580	238726580	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:238726580G>T	ENST00000409864.1	+	3	1275	c.1021G>T	c.(1021-1023)Gat>Tat	p.D341Y	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.D341Y			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	340						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.D341Y(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGAAGGTAAAGATTTTTGTGG	0.318																																					p.D341Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1021T	2						.						52.0	53.0	52.0					2																	238726580		1793	4060	5853	238391319	SO:0001583	missense	375316	exon3			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1021G>T	2.37:g.238726580G>T	ENSP00000386727:p.Asp341Tyr		238391319	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170976	0.38315	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.23147	1.92;1.92	5.76	4.89	0.63831	.	0.194286	0.38492	N	0.001675	T	0.46600	0.1401	M	0.67953	2.075	0.35027	D	0.758383	D	0.89917	1.0	D	0.73380	0.98	T	0.61917	-0.6964	10	0.87932	D	0	-27.8294	10.6874	0.45852	0.088:0.0:0.912:0.0	.	340	Q6ZP01	RBM44_HUMAN	Y	341	ENSP00000321179:D341Y;ENSP00000386727:D341Y	ENSP00000321179:D341Y	D	+	1	0	RBM44	238391319	0.963000	0.33076	0.995000	0.50966	0.259000	0.26198	1.887000	0.39698	1.440000	0.47531	0.591000	0.81541	GAT		0.318	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
RBM44	375316	broad.mit.edu	37	2	238728939	238728939	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:238728939C>T	ENST00000409864.1	+	5	2115	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C	RBM44_ENST00000444524.2_3'UTR|RBM44_ENST00000316997.4_Missense_Mutation_p.R621C			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	620						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.R621C(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GATGTGTCGTCGCCATTGTTG	0.348																																					p.R621C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1861T	2						.						55.0	51.0	52.0					2																	238728939		1882	4121	6003	238393678	SO:0001583	missense	375316	exon5			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1861C>T	2.37:g.238728939C>T	ENSP00000386727:p.Arg621Cys		238393678	NM_001080504	A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279539	0.80692	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.26067	1.76;1.76	5.92	5.92	0.95590	.	0.571677	0.16466	N	0.213188	T	0.47040	0.1424	M	0.65975	2.015	0.20975	N	0.999814	D	0.76494	0.999	P	0.57720	0.826	T	0.40327	-0.9569	10	0.87932	D	0	0.3702	17.0344	0.86470	0.0:1.0:0.0:0.0	.	620	Q6ZP01	RBM44_HUMAN	C	621	ENSP00000321179:R621C;ENSP00000386727:R621C	ENSP00000321179:R621C	R	+	1	0	RBM44	238393678	0.015000	0.18098	0.013000	0.15412	0.964000	0.63967	2.823000	0.48081	2.809000	0.96659	0.467000	0.42956	CGC		0.348	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
RBM44	375316	broad.mit.edu	37	2	238737912	238737912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:238737912G>T	ENST00000409864.1	+	13	2910	c.2656G>T	c.(2656-2658)Gaa>Taa	p.E886*	RBM44_ENST00000316997.4_Nonsense_Mutation_p.E886*			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	885	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.E886*(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGCTGTGAAAGAAATGAATGG	0.333																																					p.E886X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2656T	2						.						98.0	94.0	95.0					2																	238737912		1832	4082	5914	238402651	SO:0001587	stop_gained	375316	exon13			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.2656G>T	2.37:g.238737912G>T	ENSP00000386727:p.Glu886*		238402651	NM_001080504	A0AUW3	Nonsense_Mutation	SNP	ENST00000409864.1	37	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	42	9.252616	0.99115	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.8201	13.3283	0.60473	0.0:0.0:1.0:0.0	.	.	.	.	X	886	.	ENSP00000321179:E886X	E	+	1	0	RBM44	238402651	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	3.608000	0.54109	2.274000	0.75844	0.551000	0.68910	GAA		0.333	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
PER2	8864	broad.mit.edu	37	2	239170938	239170938	+	Missense_Mutation	SNP	G	G	A	rs77146655	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:239170938G>A	ENST00000254657.3	-	11	1480	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	PER2_ENST00000440245.1_Missense_Mutation_p.R401C|PER2_ENST00000254658.3_Missense_Mutation_p.S365L|PER2_ENST00000355768.2_Missense_Mutation_p.S365L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	401	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.R401C(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TTCCGGGCGCGAAACCGAATG	0.527													G|||	53	0.0105831	0.0401	0.0	5008	,	,		20540	0.0		0.0	False		,,,				2504	0.0				p.R401C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1201T	2						.	G	CYS/ARG	204,4202	129.4+/-166.1	4,196,2003	110.0	102.0	104.0		1201	3.3	1.0	2	dbSNP_131	104	2,8598	1.2+/-3.3	0,2,4298	yes	missense	PER2	NM_022817.2	180	4,198,6301	AA,AG,GG		0.0233,4.63,1.5839	benign	401/1256	239170938	206,12800	2203	4300	6503	238835677	SO:0001583	missense	8864	exon11			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1201C>T	2.37:g.239170938G>A	ENSP00000254657:p.Arg401Cys		238835677	NM_022817	A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	ENST00000254657.3	37	CCDS2528.1	22|22	0.010073260073260074|0.010073260073260074	22|22	0.044715447154471545|0.044715447154471545	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	14.67|14.67	2.604018|2.604018	0.46423|0.46423	0.0463|0.0463	2.33E-4|2.33E-4	ENSG00000132326|ENSG00000132326	ENST00000254657;ENST00000440245|ENST00000254658;ENST00000355768	T;T|T;T	0.20200|0.49139	2.09;2.09|0.79;0.79	4.42|4.42	3.26|3.26	0.37387|0.37387	PAS fold-3 (1);|.	0.104332|.	0.64402|.	D|.	0.000002|.	T|T	0.04634|0.04634	0.0126|0.0126	N|N	0.11789|0.11789	0.175|0.175	0.23975|0.23975	N|N	0.9963|0.9963	B;D;B|B	0.89917|0.02656	0.136;1.0;0.004|0.0	B;D;B|B	0.65773|0.01281	0.021;0.938;0.009|0.0	T|T	0.02797|0.02797	-1.1109|-1.1109	10|9	0.21014|0.87932	T|D	0.42|0	-34.8586|-34.8586	4.5069|4.5069	0.11893|0.11893	0.2869:0.0:0.7131:0.0|0.2869:0.0:0.7131:0.0	.|.	401;401;401|365	F5GYD5;B4DH14;O15055|O15055-2	.;.;PER2_HUMAN|.	C|L	401|365	ENSP00000254657:R401C;ENSP00000397516:R401C|ENSP00000254658:S365L;ENSP00000348013:S365L	ENSP00000254657:R401C|ENSP00000254658:S365L	R|S	-|-	1|2	0|0	PER2|PER2	238835677|238835677	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.015000|0.015000	0.08874|0.08874	7.286000|7.286000	0.78671|0.78671	2.183000|2.183000	0.69458|0.69458	0.555000|0.555000	0.69702|0.69702	CGC|TCG		0.527	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817	
OR6B2	389090	broad.mit.edu	37	2	240969308	240969308	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:240969308T>C	ENST00000402971.2	-	1	598	c.539A>G	c.(538-540)gAc>gGc	p.D180G		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D180G(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGGGGAAATGTCACAGAAGAA	0.527																																					p.D180G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A539G	2						.						33.0	36.0	35.0					2																	240969308		1932	4119	6051	240617981	SO:0001583	missense	389090	exon1				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.539A>G	2.37:g.240969308T>C	ENSP00000384563:p.Asp180Gly		240617981	NM_001005853	B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	T	19.10	3.762624	0.69763	.	.	ENSG00000182083	ENST00000402971	T	0.00198	8.57	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000167	T	0.00875	0.0029	H	0.96239	3.79	0.46011	D	0.998818	D	0.89917	1.0	D	0.97110	1.0	T	0.49341	-0.8950	10	0.87932	D	0	.	11.8219	0.52242	0.0:0.0:0.0:1.0	.	180	Q6IFH4	OR6B2_HUMAN	G	180	ENSP00000384563:D180G	ENSP00000384563:D180G	D	-	2	0	OR6B2	240617981	1.000000	0.71417	0.993000	0.49108	0.772000	0.43724	6.966000	0.76073	1.938000	0.56188	0.482000	0.46254	GAC		0.527	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853	
OR6B3	150681	broad.mit.edu	37	2	240984805	240984805	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:240984805G>A	ENST00000319423.4	-	1	684	c.685C>T	c.(685-687)Ccc>Tcc	p.P229S	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P229S(1)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTGGCCGAGGGGATGCGCAGG	0.577																																					p.P229S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C685T	2						.						52.0	58.0	56.0					2																	240984805		2126	4244	6370	240633478	SO:0001583	missense	150681	exon1				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.685C>T	2.37:g.240984805G>A	ENSP00000322435:p.Pro229Ser		240633478	NM_173351	Q6IFH3	Missense_Mutation	SNP	ENST00000319423.4	37	CCDS42837.1	.	.	.	.	.	.	.	.	.	.	g	15.13	2.741047	0.49151	.	.	ENSG00000178586	ENST00000319423	T	0.36878	1.23	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000293	T	0.43765	0.1262	L	0.39326	1.205	0.33195	D	0.551382	D	0.56521	0.976	P	0.59546	0.859	T	0.44205	-0.9343	10	0.19147	T	0.46	.	14.6272	0.68629	0.0:0.0:1.0:0.0	.	229	Q8NGW1	OR6B3_HUMAN	S	229	ENSP00000322435:P229S	ENSP00000322435:P229S	P	-	1	0	OR6B3	240633478	0.961000	0.32948	0.996000	0.52242	0.294000	0.27393	2.179000	0.42528	2.540000	0.85666	0.603000	0.83216	CCC		0.577	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1		
OR6B3	150681	broad.mit.edu	37	2	240985205	240985205	+	Silent	SNP	G	G	A	rs370166255	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:240985205G>A	ENST00000319423.4	-	1	284	c.285C>T	c.(283-285)gtC>gtT	p.V95V	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V95V(1)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TCATGCACCCGACGAAAGAGA	0.572													g|||	6	0.00119808	0.003	0.0	5008	,	,		21722	0.0		0.0	False		,,,				2504	0.002				p.V95V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C285T	2						.	G		5,3715		0,5,1855	26.0	26.0	26.0		285	-7.9	0.0	2		26	0,8116		0,0,4058	no	coding-synonymous	OR6B3	NM_173351.1		0,5,5913	AA,AG,GG		0.0,0.1344,0.0422		95/332	240985205	5,11831	1860	4058	5918	240633878	SO:0001819	synonymous_variant	150681	exon1				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.285C>T	2.37:g.240985205G>A			240633878	NM_173351	Q6IFH3	Silent	SNP	ENST00000319423.4	37	CCDS42837.1																																																																																				0.572	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1		
OR6B3	150681	broad.mit.edu	37	2	240985307	240985307	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:240985307G>A	ENST00000319423.4	-	1	182	c.183C>T	c.(181-183)taC>taT	p.Y61Y	PRR21_ENST00000408934.1_5'Flank	NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y61Y(1)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGCTCAGAAAGTAGTACATGG	0.552																																					p.Y61Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C183T	2						.						91.0	98.0	96.0					2																	240985307		2061	4195	6256	240633980	SO:0001819	synonymous_variant	150681	exon1				CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.183C>T	2.37:g.240985307G>A			240633980	NM_173351	Q6IFH3	Silent	SNP	ENST00000319423.4	37	CCDS42837.1																																																																																				0.552	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1		
SNED1	25992	broad.mit.edu	37	2	241992731	241992731	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:241992731C>T	ENST00000310397.8	+	16	2245	c.2245C>T	c.(2245-2247)Ccc>Tcc	p.P749S	SNED1_ENST00000342631.6_Missense_Mutation_p.P749S|SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.P749S|SNED1_ENST00000405547.3_Missense_Mutation_p.P749S	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	749	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.P749S(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|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;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GAGTGAGCCTCCCCAGTGCCT	0.692																																					p.P749S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2245T	2						.						40.0	45.0	44.0					2																	241992731		1972	4143	6115	241641404	SO:0001583	missense	25992	exon16			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2245C>T	2.37:g.241992731C>T	ENSP00000308893:p.Pro749Ser		241641404	NM_001080437	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534169	0.45073	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	4.28	4.28	0.50868	Complement control module (1);Sushi/SCR/CCP (2);	0.229603	0.30800	N	0.008841	T	0.69504	0.3118	H	0.95328	3.655	0.42369	D	0.992442	D	0.89917	1.0	D	0.97110	1.0	T	0.76623	-0.2891	10	0.22109	T	0.4	.	16.7298	0.85432	0.0:1.0:0.0:0.0	.	749	Q8TER0	SNED1_HUMAN	S	749	ENSP00000384871:P749S;ENSP00000386007:P749S;ENSP00000308893:P749S;ENSP00000342992:P749S	ENSP00000308893:P749S	P	+	1	0	SNED1	241641404	1.000000	0.71417	0.988000	0.46212	0.082000	0.17680	4.234000	0.58658	1.928000	0.55862	0.563000	0.77884	CCC		0.692	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482	
PASK	23178	broad.mit.edu	37	2	242066465	242066465	+	Missense_Mutation	SNP	C	C	T	rs201276177		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:242066465C>T	ENST00000405260.1	-	10	2563	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	PASK_ENST00000358649.4_Missense_Mutation_p.R622Q|PASK_ENST00000403638.3_Missense_Mutation_p.R622Q|PASK_ENST00000544142.1_Missense_Mutation_p.R436Q|PASK_ENST00000234040.4_Missense_Mutation_p.R622Q|PASK_ENST00000539818.1_Missense_Mutation_p.R406Q	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	622					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R622Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTCCTGGCTTCGCCACCACAA	0.652																																					p.R622Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1865A	2						.						52.0	57.0	55.0					2																	242066465		2203	4300	6503	241715138	SO:0001583	missense	23178	exon10			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1865G>A	2.37:g.242066465C>T	ENSP00000384016:p.Arg622Gln		241715138	NM_015148	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161653	0.21538	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.26;-0.29;0.67	4.48	-2.54	0.06307	.	1.835270	0.03827	N	0.268405	T	0.49064	0.1535	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.0;0.001;0.001;0.002;0.0	T	0.27157	-1.0082	10	0.13108	T	0.6	.	8.9803	0.35961	0.0:0.6434:0.2436:0.113	.	587;436;622;622;622	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	Q	622;436;622;622;406;622	ENSP00000234040:R622Q;ENSP00000441374:R436Q;ENSP00000384016:R622Q;ENSP00000351475:R622Q;ENSP00000443083:R406Q;ENSP00000384438:R622Q	ENSP00000234040:R622Q	R	-	2	0	PASK	241715138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.038000	0.03553	-0.604000	0.05760	-1.456000	0.01031	CGA		0.652	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
HDLBP	3069	broad.mit.edu	37	2	242192903	242192903	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:242192903C>T	ENST00000391975.1	-	10	1425	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	HDLBP_ENST00000427183.2_Missense_Mutation_p.E367K|HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000391976.2_Missense_Mutation_p.E400K|HDLBP_ENST00000310931.4_Missense_Mutation_p.E400K	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	400	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.E400K(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCTGTGAACTCGATGTGAACC	0.527																																					p.E400K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1198A	2						.						158.0	138.0	145.0					2																	242192903		2203	4300	6503	241841576	SO:0001583	missense	3069	exon10				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1198G>A	2.37:g.242192903C>T	ENSP00000375836:p.Glu400Lys		241841576	NM_005336	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.583506|5.583506	0.96578|0.96578	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|.	0.27720|.	1.65;1.65;1.65;1.65|.	5.76|5.76	5.76|5.76	0.90799|0.90799	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.093877|.	0.64402|.	D|.	0.000001|.	T|T	0.81399|0.81399	0.4814|0.4814	M|M	0.79258|0.79258	2.445|2.445	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.99;0.977;0.996|.	D;P;D|.	0.66602|.	0.914;0.782;0.945|.	T|T	0.80578|0.80578	-0.1320|-0.1320	10|5	0.31617|.	T|.	0.26|.	-26.6763|-26.6763	19.9705|19.9705	0.97284|0.97284	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	400;367;400|.	B2R5V9;E7EM71;Q00341|.	.;.;VIGLN_HUMAN|.	K|Q	400;400;400;367|208	ENSP00000375836:E400K;ENSP00000375837:E400K;ENSP00000312042:E400K;ENSP00000399139:E367K|.	ENSP00000312042:E400K|.	E|R	-|-	1|2	0|0	HDLBP|HDLBP	241841576|241841576	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.867000|0.867000	0.49689|0.49689	7.755000|7.755000	0.85180|0.85180	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.527	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
ALLC	55821	broad.mit.edu	37	2	3727512	3727512	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:3727512G>A	ENST00000252505.3	+	5	388	c.226G>A	c.(226-228)Gac>Aac	p.D76N		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	95					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.D76N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CCGGGGCTTCGACGTGGACGT	0.547										HNSCC(21;0.051)																											p.D76N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G226A	2						.						151.0	159.0	156.0					2																	3727512		2110	4215	6325	3705387	SO:0001583	missense	55821	exon5			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.226G>A	2.37:g.3727512G>A	ENSP00000252505:p.Asp76Asn		3705387	NM_018436	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594759	0.86953	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	4.89	0.63831	Allantoicase domain (1);Galactose-binding domain-like (1);	0.089830	0.85682	D	0.000000	T	0.77718	0.4172	M	0.81497	2.545	0.45216	D	0.998227	D	0.76494	0.999	P	0.62885	0.908	T	0.80641	-0.1292	9	0.54805	T	0.06	-16.8727	14.4943	0.67674	0.0:0.0:0.8524:0.1476	.	95	Q8N6M5	ALLC_HUMAN	N	76	.	ENSP00000252505:D76N	D	+	1	0	ALLC	3705387	1.000000	0.71417	0.630000	0.29268	0.707000	0.40811	3.903000	0.56318	1.568000	0.49683	0.655000	0.94253	GAC		0.547	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		
ALLC	55821	broad.mit.edu	37	2	3744995	3744995	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:3744995G>A	ENST00000252505.3	+	10	961	c.799G>A	c.(799-801)Gca>Aca	p.A267T	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	286					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.A267T(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TTTCCGATTGGCACATCCTGG	0.373										HNSCC(21;0.051)																											p.A267T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G799A	2						.						153.0	150.0	151.0					2																	3744995		1853	4098	5951	3722870	SO:0001583	missense	55821	exon10			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.799G>A	2.37:g.3744995G>A	ENSP00000252505:p.Ala267Thr		3722870	NM_018436	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	ENST00000252505.3	37	CCDS46223.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688767	0.68271	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.6	4.71	0.59529	Allantoicase domain (1);Galactose-binding domain-like (1);	0.150433	0.64402	D	0.000020	T	0.65770	0.2723	M	0.79258	2.445	0.34199	D	0.672978	P	0.42161	0.772	P	0.46144	0.505	T	0.78790	-0.2066	9	0.62326	D	0.03	-8.6623	13.6058	0.62046	0.0:0.0:0.8435:0.1565	.	286	Q8N6M5	ALLC_HUMAN	T	267	.	ENSP00000252505:A267T	A	+	1	0	ALLC	3722870	1.000000	0.71417	0.736000	0.30914	0.640000	0.38277	5.530000	0.67141	1.328000	0.45358	0.655000	0.94253	GCA		0.373	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		
KIDINS220	57498	broad.mit.edu	37	2	8910804	8910804	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:8910804C>T	ENST00000256707.3	-	22	3188	c.3007G>A	c.(3007-3009)Gaa>Aaa	p.E1003K	KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1003K|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E961K|KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1003K|KIDINS220_ENST00000319688.5_Missense_Mutation_p.E1004K	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1003					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.E1003K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGGTACCTTTCGTAGATGGTT	0.328																																					p.E1003K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3007A	2						.						72.0	68.0	69.0					2																	8910804		1812	4084	5896	8828255	SO:0001583	missense	57498	exon22			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3007G>A	2.37:g.8910804C>T	ENSP00000256707:p.Glu1003Lys		8828255	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	33	5.231574	0.95207	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813;ENST00000319688	T;T;T;T;T;T;T	0.68479	0.8;-0.33;-0.3;-0.21;-0.3;-0.25;-0.32	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.81064	0.4745	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	0.992;1.0;0.999;1.0;0.999	D;D;D;D;D	0.87578	0.935;0.956;0.995;0.998;0.995	T	0.82313	-0.0519	10	0.72032	D	0.01	.	19.2476	0.93908	0.0:1.0:0.0:0.0	.	1004;1004;687;961;1003	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	K	750;687;1003;1003;961;1003;1004;12;1004	ENSP00000420364:E750K;ENSP00000256707:E1003K;ENSP00000411849:E1003K;ENSP00000414923:E961K;ENSP00000418974:E1003K;ENSP00000419964:E1004K;ENSP00000319947:E1004K	ENSP00000256707:E1003K	E	-	1	0	KIDINS220	8828255	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.334000	0.79224	2.531000	0.85337	0.467000	0.42956	GAA		0.328	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
MBOAT2	129642	broad.mit.edu	37	2	9028160	9028160	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:9028160C>T	ENST00000305997.3	-	5	637	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	147					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.E147K(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCATGAATTTCGCAAGCCAAA	0.274																																					p.E147K	Ovarian(194;1699 3813 22401)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439A	2						.						68.0	78.0	74.0					2																	9028160		2201	4292	6493	8945611	SO:0001583	missense	129642	exon5			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.439G>A	2.37:g.9028160C>T	ENSP00000302177:p.Glu147Lys		8945611	NM_138799	A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458328	0.84317	.	.	ENSG00000143797	ENST00000305997;ENST00000462696	T;T	0.74421	-0.84;-0.84	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	M	0.70595	2.14	0.58432	D	0.999992	D;D	0.62365	0.991;0.991	P;P	0.56612	0.802;0.802	D	0.83379	0.0011	10	0.52906	T	0.07	-24.9514	17.9261	0.88983	0.0:1.0:0.0:0.0	.	147;147	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	K	147;124	ENSP00000302177:E147K;ENSP00000417409:E124K	ENSP00000302177:E147K	E	-	1	0	MBOAT2	8945611	1.000000	0.71417	0.967000	0.41034	0.919000	0.55068	5.638000	0.67861	2.767000	0.95098	0.655000	0.94253	GAA		0.274	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	NM_138799	
ADAM17	6868	broad.mit.edu	37	2	9666292	9666292	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:9666292C>T	ENST00000310823.3	-	6	883	c.701G>A	c.(700-702)cGc>cAc	p.R234H	ADAM17_ENST00000497134.1_Missense_Mutation_p.R234H	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	234	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.R234H(1)		breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCTGTAGAAGCGATGATCTGC	0.378																																					p.R234H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G701A	2						.						237.0	216.0	223.0					2																	9666292		2203	4300	6503	9583743	SO:0001583	missense	6868	exon6			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.701G>A	2.37:g.9666292C>T	ENSP00000309968:p.Arg234His		9583743	NM_003183	O60226	Missense_Mutation	SNP	ENST00000310823.3	37	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299760	0.81136	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	D;D	0.87179	-2.22;-2.22	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.000000	0.85682	D	0.000000	D	0.93344	0.7878	M	0.83774	2.66	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.60345	0.873;0.873	D	0.93382	0.6744	10	0.59425	D	0.04	.	19.8857	0.96911	0.0:1.0:0.0:0.0	.	234;234	B2RNB2;P78536	.;ADA17_HUMAN	H	234	ENSP00000309968:R234H;ENSP00000418728:R234H	ENSP00000309968:R234H	R	-	2	0	ADAM17	9583743	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.380000	0.79704	2.771000	0.95319	0.650000	0.86243	CGC		0.378	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1		
ITSN2	50618	broad.mit.edu	37	2	24443817	24443817	+	Silent	SNP	G	G	A	rs369405758		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:24443817G>A	ENST00000355123.4	-	30	4139	c.3696C>T	c.(3694-3696)gtC>gtT	p.V1232V	ITSN2_ENST00000361999.3_Silent_p.V1205V|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413989.1_RNA|ITSN2_ENST00000406921.3_Silent_p.V1232V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1232	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCACCTCGACGACGAGCT	0.552																																					p.V1205V												.	.	0			c.C3615T	2						.	G	,,	0,4406		0,0,2203	187.0	161.0	170.0		3696,3615,3696	-5.9	0.1	2		170	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ITSN2	NM_006277.2,NM_019595.3,NM_147152.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1232/1698,1205/1671,1232/1250	24443817	1,13005	2203	4300	6503	24297321	SO:0001819	synonymous_variant	50618	exon29			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3696C>T	2.37:g.24443817G>A			24297321	NM_019595	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																				0.552	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
NCOA1	8648	broad.mit.edu	37	2	24927991	24927991	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:24927991G>A	ENST00000406961.1	+	12	1638	c.986G>A	c.(985-987)aGa>aAa	p.R329K	NCOA1_ENST00000348332.3_Missense_Mutation_p.R329K|NCOA1_ENST00000407230.1_Missense_Mutation_p.R178K|NCOA1_ENST00000538539.1_Missense_Mutation_p.R329K|NCOA1_ENST00000395856.3_Missense_Mutation_p.R329K|NCOA1_ENST00000288599.5_Missense_Mutation_p.R329K|NCOA1_ENST00000405141.1_Missense_Mutation_p.R329K			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	329					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.R329K(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCCTATAGATTCATATTG	0.433			T	PAX3	alveolar rhadomyosarcoma																																p.R329K			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G986A	2						.						112.0	105.0	108.0					2																	24927991		2203	4300	6503	24781495	SO:0001583	missense	8648	exon10			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.986G>A	2.37:g.24927991G>A	ENSP00000385216:p.Arg329Lys		24781495	NM_003743	O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339408	0.60963	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	6.06	6.06	0.98353	.	0.210405	0.51477	D	0.000087	T	0.54854	0.1884	L	0.39245	1.2	0.36555	D	0.872067	B;B;B;D	0.53885	0.015;0.033;0.096;0.963	B;B;B;D	0.70016	0.015;0.031;0.157;0.967	T	0.60367	-0.7277	10	0.59425	D	0.04	.	13.4494	0.61161	0.0718:0.0:0.9282:0.0	.	329;329;329;178	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	K	329;329;178;329;329;329;329	ENSP00000385216:R329K;ENSP00000385097:R329K;ENSP00000385195:R178K;ENSP00000444039:R329K;ENSP00000320940:R329K;ENSP00000288599:R329K;ENSP00000379197:R329K	ENSP00000288599:R329K	R	+	2	0	NCOA1	24781495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.126000	0.57937	2.880000	0.98712	0.650000	0.86243	AGA		0.433	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223	
ADCY3	109	broad.mit.edu	37	2	25044453	25044453	+	Silent	SNP	C	C	T	rs549333173	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:25044453C>T	ENST00000260600.5	-	19	3911	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	ADCY3_ENST00000405392.1_Silent_p.A607A|CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1020					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.A1020A(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATGGCCAGCGCGAAGTCGG	0.612													C|||	10	0.00199681	0.0	0.0	5008	,	,		20731	0.0		0.0	False		,,,				2504	0.0102				p.A1020A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3060A	2						.						165.0	152.0	156.0					2																	25044453		2203	4300	6503	24897957	SO:0001819	synonymous_variant	109	exon19			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3060G>A	2.37:g.25044453C>T			24897957	NM_004036	B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	CCDS1715.1																																																																																				0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2		
DNAJC27	51277	broad.mit.edu	37	2	25186307	25186307	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:25186307G>T	ENST00000264711.2	-	3	396	c.207C>A	c.(205-207)atC>atA	p.I69I	DNAJC27_ENST00000534855.1_5'UTR|DNAJC27_ENST00000468467.1_5'UTR	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	69					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.I69I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCATATCAAAGATGTTAACTT	0.378																																					p.I69I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C207A	2						.						135.0	114.0	121.0					2																	25186307		2203	4300	6503	25039811	SO:0001819	synonymous_variant	51277	exon3				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.207C>A	2.37:g.25186307G>T			25039811	NM_001198559	Q5JV88|Q86Y24	Silent	SNP	ENST00000264711.2	37	CCDS1716.1																																																																																				0.378	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3	NM_016544	
ASXL2	55252	broad.mit.edu	37	2	25990516	25990516	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:25990516T>G	ENST00000435504.4	-	8	1004	c.711A>C	c.(709-711)aaA>aaC	p.K237N	ASXL2_ENST00000497092.1_5'Flank|ASXL2_ENST00000336112.4_Missense_Mutation_p.K209N|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000404843.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	237					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.K237N(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTTTCCACTTTAACTGAGG	0.413																																					p.K237N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A711C	2						.						129.0	125.0	126.0					2																	25990516		1866	4104	5970	25844020	SO:0001583	missense	55252	exon7					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.711A>C	2.37:g.25990516T>G	ENSP00000391447:p.Lys237Asn		25844020	NM_018263	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	T	15.16	2.750864	0.49257	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.19669	2.13;2.13	5.53	5.53	0.82687	.	0.361639	0.28683	N	0.014492	T	0.19927	0.0479	L	0.59436	1.845	0.80722	D	1	P	0.47106	0.89	B	0.38378	0.272	T	0.03325	-1.1048	10	0.87932	D	0	-9.1052	8.3225	0.32136	0.0:0.0877:0.0:0.9123	.	237	Q76L83	ASXL2_HUMAN	N	237;209	ENSP00000391447:K237N;ENSP00000337250:K209N	ENSP00000337250:K209N	K	-	3	2	ASXL2	25844020	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.706000	0.54830	2.107000	0.64212	0.533000	0.62120	AAA		0.413	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
EPT1	85465	broad.mit.edu	37	2	26609333	26609333	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:26609333G>A	ENST00000260585.7	+	9	1143	c.1024G>A	c.(1024-1026)Gtt>Att	p.V342I		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	342					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.V342I(1)									AGCCTCTTACGTTGAGAGCAT	0.433																																					p.V342I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1024A	2						.						145.0	136.0	138.0					2																	26609333		1878	4115	5993	26462837	SO:0001583	missense	85465	exon9				CCDS46240.1	2p23.3	2012-03-01			ENSG00000138018	ENSG00000138018	2.7.8.1		29361	protein-coding gene	gene with protein product	"""selenoprotein I"""	607915				11214970, 17132865	Standard	NM_033505		Approved	KIAA1724, SELI, SEPI	uc021veu.1	Q9C0D9	OTTHUMG00000151931	ENST00000260585.7:c.1024G>A	2.37:g.26609333G>A	ENSP00000260585:p.Val342Ile		26462837	NM_033505	Q63ZE3	Missense_Mutation	SNP	ENST00000260585.7	37	CCDS46240.1	.	.	.	.	.	.	.	.	.	.	G	3.896	-0.022923	0.07634	.	.	ENSG00000138018	ENST00000260585	T	0.42513	0.97	6.06	-7.88	0.01178	.	1.583050	0.04091	N	0.311206	T	0.20659	0.0497	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20638	-1.0269	10	0.20519	T	0.43	.	12.2539	0.54613	0.3016:0.1199:0.5784:0.0	.	342	Q9C0D9	EPT1_HUMAN	I	342	ENSP00000260585:V342I	ENSP00000260585:V342I	V	+	1	0	EPT1	26462837	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.786000	0.01766	-0.980000	0.03524	-0.436000	0.05848	GTT		0.433	EPT1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000324484.3	NM_033505.2	
DRC1	92749	broad.mit.edu	37	2	26644166	26644166	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:26644166A>C	ENST00000288710.2	+	3	328	c.254A>C	c.(253-255)aAa>aCa	p.K85T		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	85					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.K85T(1)									AAATTGGCTAAACTTCTGCTC	0.378																																					p.K85T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A254C	2						.						68.0	66.0	66.0					2																	26644166		2203	4300	6503	26497670	SO:0001583	missense	92749	exon3			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.254A>C	2.37:g.26644166A>C	ENSP00000288710:p.Lys85Thr		26497670	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075451	0.76415	.	.	ENSG00000157856	ENST00000288710	T	0.17213	2.29	5.08	5.08	0.68730	.	0.162923	0.52532	D	0.000061	T	0.33147	0.0853	M	0.69823	2.125	0.45354	D	0.998347	D	0.57257	0.979	P	0.53861	0.736	T	0.08207	-1.0733	10	0.54805	T	0.06	-22.4269	14.1676	0.65488	1.0:0.0:0.0:0.0	.	85	Q96MC2	CC164_HUMAN	T	85	ENSP00000288710:K85T	ENSP00000288710:K85T	K	+	2	0	CCDC164	26497670	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	6.705000	0.74644	2.056000	0.61249	0.392000	0.25879	AAA		0.378	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	
DRC1	92749	broad.mit.edu	37	2	26673507	26673507	+	Missense_Mutation	SNP	C	C	A	rs371052653		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:26673507C>A	ENST00000288710.2	+	13	1721	c.1647C>A	c.(1645-1647)ttC>ttA	p.F549L		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	549					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.F549L(1)									TGGTGAACTTCTTCCTTAAAT	0.433																																					p.F549L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1647A	2						.						111.0	114.0	113.0					2																	26673507		2203	4300	6503	26527011	SO:0001583	missense	92749	exon13			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1647C>A	2.37:g.26673507C>A	ENSP00000288710:p.Phe549Leu		26527011	NM_145038	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019967	0.75275	.	.	ENSG00000157856	ENST00000288710;ENST00000439066	T	0.16324	2.35	5.14	4.26	0.50523	.	0.371485	0.30686	N	0.009100	T	0.27205	0.0667	M	0.77616	2.38	0.35322	D	0.784806	P	0.40083	0.702	P	0.44811	0.461	T	0.38351	-0.9665	10	0.37606	T	0.19	-12.117	11.1122	0.48239	0.0:0.9114:0.0:0.0886	.	549	Q96MC2	CC164_HUMAN	L	549;105	ENSP00000288710:F549L	ENSP00000288710:F549L	F	+	3	2	CCDC164	26527011	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	2.010000	0.40913	1.293000	0.44690	0.585000	0.79938	TTC		0.433	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	
AGBL5	60509	broad.mit.edu	37	2	27293076	27293076	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:27293076C>A	ENST00000360131.4	+	15	2765	c.2606C>A	c.(2605-2607)cCt>cAt	p.P869H		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	869					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.P869H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGCCAACCTGAGGTTTGT	0.542																																					p.P869H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2606A	2						.						137.0	128.0	131.0					2																	27293076		1856	4093	5949	27146580	SO:0001583	missense	60509	exon15			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2606C>A	2.37:g.27293076C>A	ENSP00000353249:p.Pro869His		27146580	NM_021831	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	8.412	0.844429	0.16963	.	.	ENSG00000084693	ENST00000360131	T	0.14022	2.54	5.21	2.21	0.28008	.	1.183850	0.05979	N	0.643838	T	0.06371	0.0164	N	0.03608	-0.345	0.20489	N	0.999895	B	0.02656	0.0	B	0.01281	0.0	T	0.37407	-0.9707	10	0.14252	T	0.57	-13.5487	8.4443	0.32833	0.1597:0.5091:0.3312:0.0	.	869	Q8NDL9	CBPC5_HUMAN	H	869	ENSP00000353249:P869H	ENSP00000353249:P869H	P	+	2	0	AGBL5	27146580	0.305000	0.24481	0.572000	0.28498	0.963000	0.63663	0.399000	0.20916	0.737000	0.32582	0.561000	0.74099	CCT		0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831	
PRR30	339779	broad.mit.edu	37	2	27360064	27360064	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:27360064T>C	ENST00000335524.3	-	3	1659	c.1134A>G	c.(1132-1134)ccA>ccG	p.P378P	PREB_ENST00000260643.2_5'Flank|PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		378								p.P378P(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCCCGAGGTGGAGGCCCGG	0.607																																					p.P378P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1134G	2						.						106.0	110.0	109.0					2																	27360064		2203	4300	6503	27213568	SO:0001819	synonymous_variant	339779	exon3																														ENST00000335524.3:c.1134A>G	2.37:g.27360064T>C			27213568	NM_178553	Q86UE2	Silent	SNP	ENST00000335524.3	37	CCDS1739.1																																																																																				0.607	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1		
CAD	790	broad.mit.edu	37	2	27446828	27446828	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:27446828G>A	ENST00000403525.1	+	8	1183	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	CAD_ENST00000264705.4_Missense_Mutation_p.E347K			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E347Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGATATGGAACTGCTTTT	0.507																																					p.E347K												.	.	1	Substitution - Missense(1)	lung(1)	c.G1039A	2						.						173.0	171.0	172.0					2																	27446828		2203	4300	6503	27300332	SO:0001583	missense	790	exon8			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1039G>A	2.37:g.27446828G>A	ENSP00000384510:p.Glu347Lys		27300332	NM_004341	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37		.	.	.	.	.	.	.	.	.	.	G	35	5.507033	0.96386	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.89552	-2.53;-2.53	5.45	5.45	0.79879	Pre-ATP-grasp fold (1);Glutamine amidotransferase type 1 (2);	0.061432	0.64402	D	0.000003	D	0.94604	0.8261	M	0.84585	2.705	0.50313	D	0.99986	D;P	0.76494	0.999;0.924	D;P	0.74023	0.982;0.637	D	0.95135	0.8258	10	0.87932	D	0	-0.356	14.7681	0.69654	0.0:0.0:1.0:0.0	.	347;347	F8VPD4;P27708	.;PYR1_HUMAN	K	347	ENSP00000264705:E347K;ENSP00000384510:E347K	ENSP00000264705:E347K	E	+	1	0	CAD	27300332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.924000	0.92827	2.559000	0.86315	0.491000	0.48974	GAA		0.507	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1		
IFT172	26160	broad.mit.edu	37	2	27670442	27670442	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:27670442C>T	ENST00000260570.3	-	42	4702	c.4599G>A	c.(4597-4599)acG>acA	p.T1533T		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1533					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.T1533T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCAGCAGCATCGTCTTGAACT	0.557																																					p.T1533T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4599A	2						.						136.0	118.0	124.0					2																	27670442		2203	4300	6503	27523946	SO:0001819	synonymous_variant	26160	exon42			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4599G>A	2.37:g.27670442C>T			27523946	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																				0.557	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
IFT172	26160	broad.mit.edu	37	2	27681692	27681692	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:27681692G>A	ENST00000260570.3	-	26	2934	c.2831C>T	c.(2830-2832)gCc>gTc	p.A944V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	944					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.A944V(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CATGTCTATGGCATCTTTTGT	0.483																																					p.A944V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2831T	2						.						213.0	167.0	182.0					2																	27681692		2203	4300	6503	27535196	SO:0001583	missense	26160	exon26			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2831C>T	2.37:g.27681692G>A	ENSP00000260570:p.Ala944Val		27535196	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501108	0.96371	.	.	ENSG00000138002	ENST00000260570	T	0.19938	2.11	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.79926	2.475	0.80722	D	1	D	0.62365	0.991	P	0.61874	0.895	T	0.42548	-0.9445	10	0.45353	T	0.12	-10.4223	18.2124	0.89874	0.0:0.0:1.0:0.0	.	944	Q9UG01	IF172_HUMAN	V	944	ENSP00000260570:A944V	ENSP00000260570:A944V	A	-	2	0	IFT172	27535196	1.000000	0.71417	0.962000	0.40283	0.943000	0.58893	9.117000	0.94347	2.646000	0.89796	0.591000	0.81541	GCC		0.483	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
IFT172	26160	broad.mit.edu	37	2	27702995	27702995	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:27702995G>A	ENST00000260570.3	-	9	910	c.807C>T	c.(805-807)atC>atT	p.I269I	IFT172_ENST00000359466.6_Silent_p.I269I|IFT172_ENST00000416524.2_Silent_p.I248I	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	269					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.I269I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCTTCGAGGGATCCAGTTGA	0.478																																					p.I269I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C807T	2						.						89.0	78.0	82.0					2																	27702995		2203	4300	6503	27556499	SO:0001819	synonymous_variant	26160	exon9			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.807C>T	2.37:g.27702995G>A			27556499	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	CCDS1755.1																																																																																				0.478	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
C2orf16	84226	broad.mit.edu	37	2	27801985	27801985	+	Missense_Mutation	SNP	G	G	A	rs373409429	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:27801985G>A	ENST00000408964.2	+	1	2597	c.2546G>A	c.(2545-2547)cGa>cAa	p.R849Q	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	849						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R849Q(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGGAGATCACGATCTAGGACA	0.478													G|||	3	0.000599042	0.0	0.0	5008	,	,		19271	0.002		0.0	False		,,,				2504	0.001				p.R849Q												.	.	2	Substitution - Missense(2)	lung(2)	c.G2546A	2						.	G	GLN/ARG	2,3990		0,2,1994	59.0	61.0	60.0		2546	-4.7	0.0	2		60	0,8408		0,0,4204	no	missense	C2orf16	NM_032266.3	43	0,2,6198	AA,AG,GG		0.0,0.0501,0.0161	benign	849/1985	27801985	2,12398	1996	4204	6200	27655489	SO:0001583	missense	84226	exon1			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2546G>A	2.37:g.27801985G>A	ENSP00000386190:p.Arg849Gln		27655489	NM_032266	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706364	0.48412	5.01E-4	0.0	ENSG00000221843	ENST00000408964	T	0.05081	3.5	5.02	-4.7	0.03288	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44034	-0.9354	9	0.44086	T	0.13	.	0.1171	0.00061	0.2893:0.2402:0.221:0.2495	.	849	Q68DN1	CB016_HUMAN	Q	849	ENSP00000386190:R849Q	ENSP00000386190:R849Q	R	+	2	0	C2orf16	27655489	0.000000	0.05858	0.032000	0.17829	0.375000	0.29983	-0.256000	0.08757	-0.687000	0.05162	-1.214000	0.01621	CGA		0.478	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
ZNF512	84450	broad.mit.edu	37	2	27839182	27839182	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:27839182T>G	ENST00000355467.4	+	12	1370	c.1287T>G	c.(1285-1287)tcT>tcG	p.S429S	ZNF512_ENST00000413371.2_Silent_p.S352S|ZNF512_ENST00000556601.1_Silent_p.S298S|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.S428S|ZNF512_ENST00000416005.2_Silent_p.S400S	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S429S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					ACCTGGGCTCTTGTACATTGG	0.403																																					p.S429S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1287G	2						.						191.0	177.0	182.0					2																	27839182		2203	4300	6503	27692686	SO:0001819	synonymous_variant	84450	exon12			AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1287T>G	2.37:g.27839182T>G			27692686	NM_032434	B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Silent	SNP	ENST00000355467.4	37	CCDS1758.1																																																																																				0.403	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434	
SUPT7L	9913	broad.mit.edu	37	2	27873033	27873033	+	IGR	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:27873033C>T	ENST00000337768.5	-	0	4488				GPN1_ENST00000264718.3_Missense_Mutation_p.S378L|GPN1_ENST00000503738.1_Missense_Mutation_p.S269L|GPN1_ENST00000407583.3_Missense_Mutation_p.S352L|GPN1_ENST00000610189.1_Missense_Mutation_p.S364L|GPN1_ENST00000515877.1_Missense_Mutation_p.S285L|GPN1_ENST00000458167.2_Missense_Mutation_p.S269L|GPN1_ENST00000424214.1_Missense_Mutation_p.S285L	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.S364L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					ATGCAAGAATCGATGGCACAA	0.388																																					p.S269L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C806T	2						.						95.0	96.0	95.0					2																	27873033		2203	4300	6503	27726537	SO:0001628	intergenic_variant	11321	exon12			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947		2.37:g.27873033C>T			27726537	NM_001145049	B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054700	0.55325	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T	0.43688	0.94;0.94	5.17	5.17	0.71159	.	0.132597	0.49916	D	0.000121	T	0.27063	0.0663	L	0.29908	0.895	0.32504	N	0.53848	P;B;B	0.39404	0.672;0.115;0.127	B;B;B	0.27887	0.084;0.017;0.015	T	0.33777	-0.9855	10	0.22706	T	0.39	-35.5592	15.5207	0.75862	0.0:1.0:0.0:0.0	.	378;269;352	B4DQM4;B4DXU4;B5MBZ5	.;.;.	L	285;269;269;285;352;378	ENSP00000384255:S352L;ENSP00000264718:S378L	ENSP00000264718:S378L	S	+	2	0	GPN1	27726537	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.763000	0.55257	2.665000	0.90641	0.655000	0.94253	TCG		0.388	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860	
WDR43	23160	broad.mit.edu	37	2	29135495	29135495	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:29135495T>C	ENST00000407426.3	+	4	581	c.525T>C	c.(523-525)tgT>tgC	p.C175C	SNORD92_ENST00000585078.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	175						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.C218C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GTTCCCTATGTATCAGCCCAG	0.398																																					p.C175C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T525C	2						.						139.0	130.0	133.0					2																	29135495		1866	4102	5968	28988999	SO:0001819	synonymous_variant	23160	exon4			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.525T>C	2.37:g.29135495T>C			28988999	NM_015131	Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	CCDS46251.1																																																																																				0.398	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089	
FAM179A	165186	broad.mit.edu	37	2	29245121	29245121	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:29245121G>A	ENST00000379558.4	+	11	1809	c.1458G>A	c.(1456-1458)tcG>tcA	p.S486S	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.S431S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	486										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCTTTCTCGAACCCGGAGC	0.572																																					p.S486S												.	.	0			c.G1458A	2						.						78.0	83.0	81.0					2																	29245121		2032	4191	6223	29098625	SO:0001819	synonymous_variant	165186	exon11			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1458G>A	2.37:g.29245121G>A			29098625	NM_199280	Q6ZUF5	Silent	SNP	ENST00000379558.4	37	CCDS1769.2																																																																																				0.572	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280	
C2orf71	388939	broad.mit.edu	37	2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A	rs201706430		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20924	0.001		0.0	False		,,,				2504	0.0				p.R29W												.	.	0			c.C85T	2						.						92.0	87.0	89.0					2																	29297043		1992	4166	6158	29150547	SO:0001583	missense	388939	exon1				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.85C>T	2.37:g.29297043G>A	ENSP00000332809:p.Arg29Trp		29150547	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.86	1.765442	0.31228	.	.	ENSG00000179270	ENST00000331664	T	0.17854	2.25	5.88	-5.99	0.02213	.	0.143123	0.29853	N	0.011038	T	0.14570	0.0352	N	0.22421	0.69	0.19300	N	0.999976	D	0.57571	0.98	P	0.47744	0.556	T	0.22556	-1.0213	10	0.72032	D	0.01	-2.8259	19.4436	0.94836	0.2736:0.0:0.7264:0.0	.	29	A6NGG8	CB071_HUMAN	W	29	ENSP00000332809:R29W	ENSP00000332809:R29W	R	-	1	2	C2orf71	29150547	0.015000	0.18098	0.113000	0.21522	0.211000	0.24417	-0.612000	0.05616	-1.088000	0.03077	-0.291000	0.09656	CGG		0.512	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
CLIP4	79745	broad.mit.edu	37	2	29356672	29356672	+	Silent	SNP	G	G	A	rs150045383		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:29356672G>A	ENST00000320081.5	+	5	774	c.519G>A	c.(517-519)tcG>tcA	p.S173S	CLIP4_ENST00000401617.2_Silent_p.S66S|CLIP4_ENST00000404424.1_Silent_p.S173S|CLIP4_ENST00000401605.1_Silent_p.S173S	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	173								p.S173S(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAAACATCGAAACCAAAAG	0.328																																					p.S173S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G519A	2						.	G		1,4405		0,1,2202	94.0	90.0	91.0		519	-10.6	0.8	2	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous	CLIP4	NM_024692.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		173/706	29356672	1,13005	2203	4300	6503	29210176	SO:0001819	synonymous_variant	79745	exon5			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.519G>A	2.37:g.29356672G>A			29210176	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	CCDS1770.1																																																																																				0.328	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
CLIP4	79745	broad.mit.edu	37	2	29397248	29397248	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:29397248G>T	ENST00000320081.5	+	15	1988	c.1733G>T	c.(1732-1734)aGa>aTa	p.R578I	CLIP4_ENST00000401605.1_Missense_Mutation_p.R578I|CLIP4_ENST00000401617.2_Missense_Mutation_p.R471I|CLIP4_ENST00000404424.1_Missense_Mutation_p.R578I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	578								p.R578I(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GGTTTTAGGAGAAGTTTTAGC	0.318																																					p.R578I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1733T	2						.						97.0	102.0	100.0					2																	29397248		2203	4300	6503	29250752	SO:0001583	missense	79745	exon15			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1733G>T	2.37:g.29397248G>T	ENSP00000327009:p.Arg578Ile		29250752	NM_024692	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445661	0.63178	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.07	6.07	0.98685	Cytoskeleton-associated protein, Gly-rich domain (1);	0.051535	0.85682	D	0.000000	T	0.38852	0.1056	L	0.27053	0.805	0.58432	D	0.999998	P	0.41947	0.766	B	0.34038	0.174	T	0.19516	-1.0303	10	0.27785	T	0.31	.	17.8153	0.88630	0.0:0.0:1.0:0.0	.	578	Q8N3C7	CLIP4_HUMAN	I	578;471;578;580;578;596;538	ENSP00000384242:R578I;ENSP00000385148:R471I;ENSP00000385594:R578I;ENSP00000327009:R578I	ENSP00000327009:R578I	R	+	2	0	CLIP4	29250752	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.553000	0.73918	2.885000	0.99019	0.655000	0.94253	AGA		0.318	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692	
ALK	238	broad.mit.edu	37	2	29416634	29416634	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:29416634G>A	ENST00000389048.3	-	29	5225	c.4319C>T	c.(4318-4320)gCc>gTc	p.A1440V	ALK_ENST00000431873.1_Missense_Mutation_p.A270V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1440					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A1440V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGGTGGTGGGGCAGCTGGGCT	0.622			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																												p.A1440V		yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4319T	2						.						70.0	73.0	72.0					2																	29416634		2203	4300	6503	29270138	SO:0001583	missense	238	exon29	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4319C>T	2.37:g.29416634G>A	ENSP00000373700:p.Ala1440Val		29270138	NM_004304	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	g	12.93	2.086027	0.36855	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.78126	-1.15;2.92	4.77	2.94	0.34122	.	0.144833	0.31335	U	0.007827	T	0.68302	0.2986	L	0.51422	1.61	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.54873	-0.8228	9	.	.	.	.	9.4143	0.38512	0.1685:0.0:0.8315:0.0	.	1440	Q9UM73	ALK_HUMAN	V	1440;270	ENSP00000373700:A1440V;ENSP00000414027:A270V	.	A	-	2	0	ALK	29270138	0.331000	0.24713	0.013000	0.15412	0.038000	0.13279	2.540000	0.45727	1.007000	0.39238	0.556000	0.70494	GCC		0.622	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
CAPN13	92291	broad.mit.edu	37	2	30975973	30975973	+	Missense_Mutation	SNP	C	C	T	rs542792832		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:30975973C>T	ENST00000295055.8	-	10	1209	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	CAPN13_ENST00000534090.2_Missense_Mutation_p.E345K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	345					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.E345K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GACCATCCTTCGTGGAGTGTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		23433	0.0		0.0	False		,,,				2504	0.001				p.E345K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1033A	2						.						300.0	276.0	284.0					2																	30975973		1945	4133	6078	30829477	SO:0001583	missense	92291	exon10				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1033G>A	2.37:g.30975973C>T	ENSP00000295055:p.Glu345Lys		30829477	NM_144575	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	6.090	0.384966	0.11524	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.86366	-2.11;-2.11	5.27	5.27	0.74061	.	0.373906	0.31427	N	0.007675	T	0.75810	0.3900	N	0.16567	0.415	0.32677	N	0.516006	D	0.60160	0.987	B	0.40329	0.326	T	0.77973	-0.2386	10	0.16420	T	0.52	.	14.3858	0.66942	0.0:1.0:0.0:0.0	.	345	Q6MZZ7	CAN13_HUMAN	K	345	ENSP00000295055:E345K;ENSP00000431298:E345K	ENSP00000295055:E345K	E	-	1	0	CAPN13	30829477	0.007000	0.16637	0.942000	0.38095	0.030000	0.12068	1.863000	0.39459	2.462000	0.83206	0.561000	0.74099	GAA		0.443	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
GALNT14	79623	broad.mit.edu	37	2	31178795	31178795	+	Missense_Mutation	SNP	C	C	T	rs150208592		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:31178795C>T	ENST00000349752.5	-	5	1154	c.515G>A	c.(514-516)cGc>cAc	p.R172H	GALNT14_ENST00000356174.3_Missense_Mutation_p.R139H|GALNT14_ENST00000420311.2_Missense_Mutation_p.R137H|GALNT14_ENST00000486564.1_5'Flank|GALNT14_ENST00000324589.5_Missense_Mutation_p.R177H|GALNT14_ENST00000406653.1_Missense_Mutation_p.R152H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	172	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R172H(2)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TTCATTATTGCGCAAGCATTT	0.527																																					p.R172H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G515A	2						.	C	HIS/ARG	0,4406		0,0,2203	254.0	234.0	241.0		515	5.3	0.9	2	dbSNP_134	241	2,8598	1.2+/-3.3	0,2,4298	no	missense	GALNT14	NM_024572.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	172/553	31178795	2,13004	2203	4300	6503	31032299	SO:0001583	missense	79623	exon5			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.515G>A	2.37:g.31178795C>T	ENSP00000288988:p.Arg172His		31032299	NM_024572	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991304	0.93106	0.0	2.33E-4	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.28	5.28	0.74379	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	M	0.70595	2.14	0.80722	D	1	D;P;D;D;D;D	0.89917	0.966;0.927;1.0;1.0;0.993;1.0	P;P;D;D;P;D	0.87578	0.593;0.61;0.998;0.998;0.716;0.998	T	0.80694	-0.1268	10	0.59425	D	0.04	.	18.9153	0.92503	0.0:1.0:0.0:0.0	.	137;137;139;177;172;152	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	H	172;177;152;139;137;139	ENSP00000288988:R172H;ENSP00000314500:R177H;ENSP00000385435:R152H;ENSP00000348497:R139H;ENSP00000415514:R137H;ENSP00000406399:R139H	ENSP00000314500:R177H	R	-	2	0	GALNT14	31032299	1.000000	0.71417	0.941000	0.38009	0.969000	0.65631	6.911000	0.75746	2.484000	0.83849	0.561000	0.74099	CGC		0.527	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572	
XDH	7498	broad.mit.edu	37	2	31567585	31567585	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:31567585C>T	ENST00000379416.3	-	31	3417	c.3369G>A	c.(3367-3369)atG>atA	p.M1123I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1123					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.M1123I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TCACTGTGTCCATGTAGGCAG	0.527																																					p.M1123I	Colon(66;682 1445 30109 40147)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3369A	2						.						158.0	123.0	135.0					2																	31567585		2203	4300	6503	31421089	SO:0001583	missense	7498	exon31			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3369G>A	2.37:g.31567585C>T	ENSP00000368727:p.Met1123Ile		31421089	NM_000379	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.242987	0.22796	.	.	ENSG00000158125	ENST00000379416	T	0.37235	1.21	5.11	1.11	0.20524	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	1.549750	0.03379	N	0.200131	T	0.28732	0.0712	L	0.41236	1.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11567	-1.0582	10	0.21540	T	0.41	.	4.7355	0.12986	0.269:0.5263:0.1312:0.0734	.	1123	P47989	XDH_HUMAN	I	1123	ENSP00000368727:M1123I	ENSP00000368727:M1123I	M	-	3	0	XDH	31421089	0.000000	0.05858	0.000000	0.03702	0.496000	0.33645	-0.645000	0.05409	-0.016000	0.14127	0.549000	0.68633	ATG		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
MEMO1	51072	broad.mit.edu	37	2	32094975	32094975	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:32094975T>C	ENST00000295065.5	-	8	1013	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	MEMO1_ENST00000404530.1_Missense_Mutation_p.Y235C|MEMO1_ENST00000379383.3_Missense_Mutation_p.Y238C|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.Y212C|MEMO1_ENST00000490459.1_5'UTR	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	235					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TTTCTTCAAGTAATTGCTAAA	0.294																																					p.Y235C												.	.	0			c.A704G	2						.						78.0	78.0	78.0					2																	32094975		2202	4291	6493	31948479	SO:0001583	missense	51072	exon8			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.704A>G	2.37:g.32094975T>C	ENSP00000295065:p.Tyr235Cys		31948479	NM_015955	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116401	0.77323	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90156	0.4224	9	0.87932	D	0	-5.0795	14.3475	0.66678	0.0:0.0:0.0:1.0	.	212;235	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	C	235;238;235;212	.	ENSP00000295065:Y235C	Y	-	2	0	MEMO1	31948479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.945000	0.87732	1.934000	0.56057	0.477000	0.44152	TAC		0.294	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2	NM_015955	
SLC30A6	55676	broad.mit.edu	37	2	32445306	32445306	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:32445306C>T	ENST00000282587.5	+	14	947	c.910C>T	c.(910-912)Cga>Tga	p.R304*	SLC30A6_ENST00000379343.2_Nonsense_Mutation_p.R344*|SLC30A6_ENST00000538303.1_Nonsense_Mutation_p.R275*|SLC30A6_ENST00000435660.1_Nonsense_Mutation_p.R281*|SLC30A6_ENST00000357055.3_Nonsense_Mutation_p.R107*|SLC30A6_ENST00000406369.1_Nonsense_Mutation_p.R230*	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	304					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.R304*(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTAAGAATTCGACGAGATGC	0.353																																					p.R344X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1030T	2						.						94.0	81.0	85.0					2																	32445306		2203	4300	6503	32298810	SO:0001587	stop_gained	55676	exon15			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.910C>T	2.37:g.32445306C>T	ENSP00000282587:p.Arg304*		32298810	NM_001193513	A5YM45|B7Z901|Q8N5C9|Q96NC3	Nonsense_Mutation	SNP	ENST00000282587.5	37	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824978	0.90955	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3124	14.3706	0.66836	0.1481:0.8519:0.0:0.0	.	.	.	.	X	344;304;281;275;107;230	.	ENSP00000282587:R304X	R	+	1	2	SLC30A6	32298810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.407000	0.66363	2.702000	0.92279	0.591000	0.81541	CGA		0.353	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		
BIRC6	57448	broad.mit.edu	37	2	32605222	32605222	+	Splice_Site	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:32605222C>G	ENST00000421745.2	+	3	643	c.509C>G	c.(508-510)gCa>gGa	p.A170G	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	170					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A142G(1)|p.A170G(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					tttatttaGGCACAGCAGCTC	0.274																																					p.A170G	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C509G	2						.						22.0	20.0	21.0					2																	32605222		2190	4276	6466	32458726	SO:0001630	splice_region_variant	57448	exon3			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.508-1C>G	2.37:g.32605222C>G			32458726	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042535	0.93685	.	.	ENSG00000115760	ENST00000421745	D	0.82803	-1.65	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	M	0.68317	2.08	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.91395	0.5138	10	0.87932	D	0	.	18.5584	0.91092	0.0:1.0:0.0:0.0	.	170	Q9NR09	BIRC6_HUMAN	G	170	ENSP00000393596:A170G	ENSP00000393596:A170G	A	+	2	0	BIRC6	32458726	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.770000	0.85390	2.363000	0.80096	0.563000	0.77884	GCA		0.274	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	Missense_Mutation
BIRC6	57448	broad.mit.edu	37	2	32756604	32756604	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:32756604G>T	ENST00000421745.2	+	61	12411	c.12277G>T	c.(12277-12279)Gaa>Taa	p.E4093*	MIR558_ENST00000384920.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4093					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.E4065*(1)|p.E4093*(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTATATCCAGAAGTAATTCA	0.358																																					p.E4093X	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G12277T	2						.						61.0	56.0	58.0					2																	32756604		2203	4300	6503	32610108	SO:0001587	stop_gained	57448	exon61			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12277G>T	2.37:g.32756604G>T	ENSP00000393596:p.Glu4093*		32610108	NM_016252	Q9ULD1	Nonsense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	54	22.461742	0.99948	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.37	4.48	0.54585	.	0.102895	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.6796	0.77357	0.0:0.0:0.8617:0.1383	.	.	.	.	X	4093	.	ENSP00000393596:E4093X	E	+	1	0	BIRC6	32610108	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.813000	0.99286	1.369000	0.46134	0.467000	0.42956	GAA		0.358	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
BIRC6	57448	broad.mit.edu	37	2	32832625	32832625	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:32832625G>A	ENST00000421745.2	+	72	14308	c.14174G>A	c.(14173-14175)cGa>cAa	p.R4725Q		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4725					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.R4725Q(1)|p.R4697Q(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAGAGTTCTCGAGAATATGAT	0.413																																					p.R4725Q	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G14174A	2						.						161.0	159.0	160.0					2																	32832625		2203	4300	6503	32686129	SO:0001583	missense	57448	exon72			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14174G>A	2.37:g.32832625G>A	ENSP00000393596:p.Arg4725Gln		32686129	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	33	5.201202	0.94997	.	.	ENSG00000115760	ENST00000421745	T	0.37235	1.21	5.52	5.52	0.82312	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.130440	0.49305	D	0.000151	T	0.50120	0.1597	L	0.35288	1.05	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.31420	-0.9944	10	0.25106	T	0.35	.	19.4363	0.94796	0.0:0.0:1.0:0.0	.	4725	Q9NR09	BIRC6_HUMAN	Q	4725	ENSP00000393596:R4725Q	ENSP00000393596:R4725Q	R	+	2	0	BIRC6	32686129	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.864000	0.99589	2.573000	0.86826	0.585000	0.79938	CGA		0.413	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
TTC27	55622	broad.mit.edu	37	2	33036136	33036136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:33036136C>T	ENST00000317907.4	+	17	2275	c.2044C>T	c.(2044-2046)Cga>Tga	p.R682*		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	682								p.R682*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GATGACTGATCGAAGTGGAGA	0.408																																					p.R632X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1894T	2						.						122.0	116.0	118.0					2																	33036136		2203	4300	6503	32889640	SO:0001587	stop_gained	55622	exon17			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.2044C>T	2.37:g.33036136C>T	ENSP00000313953:p.Arg682*		32889640	NM_001193509	A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Nonsense_Mutation	SNP	ENST00000317907.4	37	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	36	5.707517	0.96821	.	.	ENSG00000018699	ENST00000317907	.	.	.	5.22	4.33	0.51752	.	0.345066	0.33496	N	0.004848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-8.5141	15.0095	0.71539	0.1535:0.8465:0.0:0.0	.	.	.	.	X	682	.	ENSP00000313953:R682X	R	+	1	2	TTC27	32889640	1.000000	0.71417	0.989000	0.46669	0.097000	0.18754	2.546000	0.45778	1.378000	0.46305	-0.284000	0.09977	CGA		0.408	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735	
LTBP1	4052	broad.mit.edu	37	2	33518289	33518289	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:33518289T>G	ENST00000404816.2	+	20	3528	c.3175T>G	c.(3175-3177)Tcc>Gcc	p.S1059A	LTBP1_ENST00000404525.1_Missense_Mutation_p.S680A|LTBP1_ENST00000402934.1_Missense_Mutation_p.S680A|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000272273.5_5'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.S733A|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1060A|LTBP1_ENST00000418533.2_Missense_Mutation_p.S733A|LTBP1_ENST00000390003.4_Missense_Mutation_p.S734A			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1059	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.S1060A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCTTGAAGGCTCCTACATGTG	0.428																																					p.S733A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2197G	2						.						104.0	94.0	97.0					2																	33518289		2203	4300	6503	33371793	SO:0001583	missense	4052	exon16				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3175T>G	2.37:g.33518289T>G	ENSP00000386043:p.Ser1059Ala		33371793	NM_000627	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	19.32	3.804405	0.70682	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6;-3.6;-3.6	5.66	5.66	0.87406	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94928	0.8360	M	0.88031	2.925	0.80722	D	1	B;B;B;B;B;B	0.25441	0.078;0.004;0.023;0.004;0.002;0.126	B;B;B;B;B;B	0.24974	0.057;0.017;0.041;0.009;0.009;0.046	D	0.93643	0.6966	9	0.72032	D	0.01	.	13.8567	0.63531	0.0:0.0:0.0:1.0	.	1059;733;680;733;734;1060	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	A	1059;1060;734;733;680;680;733	ENSP00000386043:S1059A;ENSP00000346467:S1060A;ENSP00000374653:S734A;ENSP00000393057:S733A;ENSP00000384373:S680A;ENSP00000385359:S680A;ENSP00000384091:S733A	ENSP00000346467:S1060A	S	+	1	0	LTBP1	33371793	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.943000	0.49026	2.152000	0.67230	0.454000	0.30748	TCC		0.428	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	
LTBP1	4052	broad.mit.edu	37	2	33622348	33622348	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:33622348C>T	ENST00000404816.2	+	33	5336	c.4983C>T	c.(4981-4983)gtC>gtT	p.V1661V	LTBP1_ENST00000404525.1_Splice_Site_p.V1282V|LTBP1_ENST00000402934.1_Splice_Site_p.V1280V|LTBP1_ENST00000272273.5_Splice_Site_p.V559V|LTBP1_ENST00000407925.1_Splice_Site_p.V1335V|LTBP1_ENST00000354476.3_Splice_Site_p.V1662V|LTBP1_ENST00000418533.2_Splice_Site_p.V1293V|LTBP1_ENST00000390003.4_Splice_Site_p.V1336V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1661				V -> F (in Ref. 1; AAA61160). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.V1662V(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGACCTGTGTCGGTAAGAATG	0.433																																					p.V1335V												.	.	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	c.C4005T	2						.						189.0	162.0	171.0					2																	33622348		2203	4300	6503	33475852	SO:0001630	splice_region_variant	4052	exon29				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4984+1C>T	2.37:g.33622348C>T			33475852	NM_000627	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	CCDS33177.2																																																																																				0.433	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Silent
RASGRP3	25780	broad.mit.edu	37	2	33745024	33745024	+	Missense_Mutation	SNP	G	G	A	rs369611073		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:33745024G>A	ENST00000403687.3	+	5	919	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R60Q|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R60Q	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	60	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.R60Q(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTTACGTATCGAAATGCCACT	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		18350	0.0		0.0	False		,,,				2504	0.001				p.R60Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G179A	2						.	G	GLN/ARG,GLN/ARG,GLN/ARG	0,3714		0,0,1857	116.0	123.0	121.0		179,179,179	3.4	1.0	2		121	2,8186		0,2,4092	no	missense,missense,missense	RASGRP3	NM_001139488.1,NM_015376.2,NM_170672.2	43,43,43	0,2,5949	AA,AG,GG		0.0244,0.0,0.0168	benign,benign,benign	60/691,60/690,60/691	33745024	2,11900	1857	4094	5951	33598528	SO:0001583	missense	25780	exon6			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.179G>A	2.37:g.33745024G>A	ENSP00000384192:p.Arg60Gln		33598528	NM_170672	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	ENST00000403687.3	37	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	G	1.689	-0.504402	0.04261	0.0	2.44E-4	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000442390;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T;T	0.47177	0.85;1.69;0.85;1.57;1.69;1.69;0.85	6.17	3.36	0.38483	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	3.407770	0.00550	N	0.000247	T	0.33990	0.0882	N	0.20401	0.57	0.39750	D	0.97187	B;P	0.40230	0.275;0.708	B;B	0.38803	0.051;0.282	T	0.50508	-0.8820	10	0.02654	T	1	1.0256	10.2236	0.43212	0.2212:0.0:0.7788:0.0	.	60;60	D6W583;Q8IV61	.;GRP3_HUMAN	Q	60	ENSP00000385886:R60Q;ENSP00000393866:R60Q;ENSP00000384192:R60Q;ENSP00000405648:R60Q;ENSP00000400602:R60Q;ENSP00000388139:R60Q;ENSP00000383917:R60Q	ENSP00000385886:R60Q	R	+	2	0	RASGRP3	33598528	1.000000	0.71417	0.982000	0.44146	0.079000	0.17450	2.769000	0.47654	0.438000	0.26450	-0.137000	0.14449	CGA		0.368	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376	
CRIM1	51232	broad.mit.edu	37	2	36691680	36691680	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:36691680C>T	ENST00000280527.2	+	5	1240	c.873C>T	c.(871-873)tgC>tgT	p.C291C		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	291					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.C291C(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTTTCAGATGCGAGTGTCTCT	0.507																																					p.C291C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C873T	2						.						194.0	178.0	184.0					2																	36691680		2203	4300	6503	36545184	SO:0001819	synonymous_variant	51232	exon5			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.873C>T	2.37:g.36691680C>T			36545184	NM_016441	Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	CCDS1783.1																																																																																				0.507	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441	
FEZ2	9637	broad.mit.edu	37	2	36808434	36808434	+	Splice_Site	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:36808434C>A	ENST00000405912.3	-	4	632	c.633G>T	c.(631-633)gaG>gaT	p.E211D	FEZ2_ENST00000379245.4_Splice_Site_p.E211D|FEZ2_ENST00000305852.7_Splice_Site_p.E40D	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	211					axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)			p.E211D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				CTCCCTTACTCTCTTCATAAC	0.413																																					p.E211D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G633T	2						.						236.0	228.0	231.0					2																	36808434		1831	4089	5920	36661938	SO:0001630	splice_region_variant	9637	exon4			U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.634+1G>T	2.37:g.36808434C>A			36661938	NM_005102	Q5EBN3|Q76LN0|Q99690	Missense_Mutation	SNP	ENST00000405912.3	37	CCDS46257.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.47|11.47	1.649758|1.649758	0.29336|0.29336	.|.	.|.	ENSG00000171055|ENSG00000171055	ENST00000379245;ENST00000305852;ENST00000405912;ENST00000357996|ENST00000441005	T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35|.	5.78|5.78	3.97|3.97	0.46021|0.46021	.|.	0.188789|0.188789	0.56097|0.56097	D|D	0.000028|0.000028	T|.	0.41351|.	0.1155|.	N|N	0.20685|0.20685	0.6|0.6	0.45621|0.45621	D|D	0.998555|0.998555	B;B;B;B|.	0.23540|.	0.037;0.087;0.027;0.011|.	B;B;B;B|.	0.33690|.	0.024;0.168;0.02;0.022|.	T|.	0.29941|.	-0.9995|.	10|.	0.30078|0.46703	T|T	0.28|0.11	-19.4192|-19.4192	7.2703|7.2703	0.26252|0.26252	0.1363:0.7216:0.0:0.1421|0.1363:0.7216:0.0:0.1421	.|.	211;211;211;40|.	G3V0F5;Q9UHY8;Q9UHY8-2;Q7Z674|.	.;FEZ2_HUMAN;.;.|.	D|X	211;40;211;110|13	ENSP00000368547:E211D;ENSP00000305843:E40D;ENSP00000385112:E211D;ENSP00000350685:E110D|.	ENSP00000305843:E40D|ENSP00000415325:E13X	E|E	-|-	3|1	2|0	FEZ2|FEZ2	36661938|36661938	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	0.380000|0.380000	0.20602|0.20602	0.887000|0.887000	0.36136|0.36136	0.655000|0.655000	0.94253|0.94253	GAG|GAG		0.413	FEZ2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325432.1		Missense_Mutation
VIT	5212	broad.mit.edu	37	2	37032583	37032583	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:37032583C>T	ENST00000389975.3	+	13	1422	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	VIT_ENST00000401530.1_Missense_Mutation_p.R353W|VIT_ENST00000404084.1_Missense_Mutation_p.R326W|VIT_ENST00000379242.3_Missense_Mutation_p.R389W|VIT_ENST00000497382.1_Missense_Mutation_p.R43W|VIT_ENST00000379241.3_Missense_Mutation_p.R352W	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	374	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.R389W(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCTTCCAGGTCGGGCCATCTC	0.473																																					p.R374W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1120T	2						.						54.0	55.0	54.0					2																	37032583		2203	4300	6503	36886087	SO:0001583	missense	5212	exon13			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1120C>T	2.37:g.37032583C>T	ENSP00000374625:p.Arg374Trp		36886087	NM_001177969	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070978	0.76301	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.49	2.43	0.29744	von Willebrand factor, type A (3);	0.221021	0.45126	N	0.000388	D	0.87124	0.6099	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.981;0.976;0.986;0.986	D	0.86316	0.1689	10	0.66056	D	0.02	-8.8138	7.8849	0.29644	0.3399:0.5747:0.0:0.0854	.	353;352;374;389	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	W	389;374;43;326;352;353	ENSP00000368544:R389W;ENSP00000374625:R374W;ENSP00000417874:R43W;ENSP00000384154:R326W;ENSP00000368543:R352W;ENSP00000385658:R353W	ENSP00000368543:R352W	R	+	1	2	VIT	36886087	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.311000	0.59147	1.318000	0.45170	0.650000	0.86243	CGG		0.473	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
VIT	5212	broad.mit.edu	37	2	37032714	37032714	+	Silent	SNP	G	G	A	rs367851085		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:37032714G>A	ENST00000389975.3	+	13	1553	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	VIT_ENST00000401530.1_Silent_p.A396A|VIT_ENST00000404084.1_Silent_p.A369A|VIT_ENST00000379242.3_Silent_p.A432A|VIT_ENST00000497382.1_Silent_p.A86A|VIT_ENST00000379241.3_Silent_p.A395A	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	417	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.A432A(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAGACTTGCGAGAGAGTCAG	0.498																																					p.A417A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1251A	2						.	G	,,,	0,4406		0,0,2203	118.0	101.0	107.0		1251,1188,1185,1296	-11.0	0.2	2		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	417/679,396/658,395/657,432/694	37032714	1,13005	2203	4300	6503	36886218	SO:0001819	synonymous_variant	5212	exon13			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1251G>A	2.37:g.37032714G>A			36886218	NM_001177969	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	CCDS54347.1																																																																																				0.498	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			
RMDN2	151393	broad.mit.edu	37	2	38202438	38202438	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:38202438G>T	ENST00000406384.1	+	4	905	c.711G>T	c.(709-711)aaG>aaT	p.K237N	RMDN2_ENST00000407257.1_Missense_Mutation_p.K415N|RMDN2_ENST00000417700.2_Missense_Mutation_p.K92N|RMDN2_ENST00000354545.2_Missense_Mutation_p.K237N|RMDN2_ENST00000234195.3_Missense_Mutation_p.K415N|RMDN2-AS1_ENST00000414365.2_RNA	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	237						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.K415N(1)									CACAAGAAAAGAAACATTATG	0.323																																					p.K92N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G276T	2						.						106.0	106.0	106.0					2																	38202438		2203	4299	6502	38055942	SO:0001583	missense	151393	exon3			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.711G>T	2.37:g.38202438G>T	ENSP00000386004:p.Lys237Asn		38055942	NM_001170793	A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	ENST00000406384.1	37	CCDS54351.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117169	0.56505	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27	4.95	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	M	0.89214	3.015	0.51012	D	0.999909	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.991;0.999;0.999;0.999	T	0.79586	-0.1742	10	0.87932	D	0	.	9.3542	0.38157	0.0997:0.0:0.9003:0.0	.	415;92;237;92	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	N	237;237;415;92;415;92	ENSP00000346549:K237N;ENSP00000386004:K237N;ENSP00000385049:K415N;ENSP00000392977:K92N;ENSP00000234195:K415N;ENSP00000416367:K92N	ENSP00000234195:K415N	K	+	3	2	FAM82A1	38055942	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	1.512000	0.35812	2.569000	0.86673	0.467000	0.42956	AAG		0.323	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713	
SRSF7	6432	broad.mit.edu	37	2	38975205	38975205	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:38975205C>T	ENST00000313117.6	-	5	793	c.556G>A	c.(556-558)Gga>Aga	p.G186R	SRSF7_ENST00000409276.1_Missense_Mutation_p.G186R|SRSF7_ENST00000446327.2_Missense_Mutation_p.G186R	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	186	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G186R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TACCTCGATCCTTTTATAGAA	0.378																																					p.G186R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	2						.						104.0	98.0	100.0					2																	38975205		2203	4300	6503	38828709	SO:0001583	missense	6432	exon5			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.556G>A	2.37:g.38975205C>T	ENSP00000325905:p.Gly186Arg		38828709	NM_001031684	B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	CCDS33183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.03|14.03	2.414133|2.414133	0.42817|0.42817	.|.	.|.	ENSG00000115875|ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276|ENST00000452806	T;T;T|.	0.14516|.	2.5;2.5;2.97|.	6.17|6.17	4.17|4.17	0.49024|0.49024	.|.	0.076907|.	0.53938|.	D|.	0.000056|.	T|T	0.11623|0.11623	0.0283|0.0283	N|N	0.00760|0.00760	-1.21|-1.21	0.36703|0.36703	D|D	0.880244|0.880244	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.12477|0.12477	-1.0546|-1.0546	10|5	0.14656|.	T|.	0.56|.	.|.	4.5005|4.5005	0.11862|0.11862	0.0:0.5919:0.0:0.4081|0.0:0.5919:0.0:0.4081	.|.	186;186|.	G5E9M3;Q16629|.	.;SRSF7_HUMAN|.	R|K	186|69	ENSP00000325905:G186R;ENSP00000402264:G186R;ENSP00000386806:G186R|.	ENSP00000325905:G186R|.	G|R	-|-	1|2	0|0	SRSF7|SRSF7	38828709|38828709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.155000|4.155000	0.58131|0.58131	1.626000|1.626000	0.50381|0.50381	0.655000|0.655000	0.94253|0.94253	GGA|AGG		0.378	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684	
MAP4K3	8491	broad.mit.edu	37	2	39517458	39517458	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:39517458T>G	ENST00000263881.3	-	19	1613	c.1289A>C	c.(1288-1290)aAa>aCa	p.K430T	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000474502.1_5'Flank|MAP4K3_ENST00000341681.5_Missense_Mutation_p.K409T|MAP4K3_ENST00000437545.1_Missense_Mutation_p.K346T	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	430					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.K430T(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGGTGGAATTTTTGCTTTCAG	0.279																																					p.K430T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1289C	2						.						72.0	76.0	74.0					2																	39517458		2203	4298	6501	39370962	SO:0001583	missense	8491	exon19			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1289A>C	2.37:g.39517458T>G	ENSP00000263881:p.Lys430Thr		39370962	NM_003618	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380075	0.42207	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.19806	2.12;2.12;2.12	5.8	5.8	0.92144	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.20618	0.0496	L	0.46157	1.445	0.80722	D	1	B;B	0.24721	0.11;0.008	B;B	0.24848	0.056;0.003	T	0.05321	-1.0892	10	0.13470	T	0.59	.	15.8331	0.78773	0.0:0.0:0.0:1.0	.	409;430	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	T	430;346;409	ENSP00000263881:K430T;ENSP00000416958:K346T;ENSP00000345434:K409T	ENSP00000263881:K430T	K	-	2	0	MAP4K3	39370962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.941000	0.70195	2.216000	0.71823	0.533000	0.62120	AAA		0.279	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
THUMPD2	80745	broad.mit.edu	37	2	39995593	39995593	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:39995593T>C	ENST00000505747.1	-	4	748	c.721A>G	c.(721-723)Aaa>Gaa	p.K241E	THUMPD2_ENST00000260619.6_Missense_Mutation_p.K211E|THUMPD2_ENST00000403537.3_5'Flank|THUMPD2_ENST00000454352.2_Missense_Mutation_p.E275G	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	241	THUMP. {ECO:0000255|PROSITE- ProRule:PRU00529}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.K211E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				AAGTCTGCTTTCCATCCAAAG	0.294																																					p.K241E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A721G	2						.						120.0	130.0	126.0					2																	39995593		2203	4299	6502	39849097	SO:0001583	missense	80745	exon4			AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.721A>G	2.37:g.39995593T>C	ENSP00000423933:p.Lys241Glu		39849097	NM_025264	A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	CCDS1805.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.250623|4.250623	0.80135|0.80135	.|.	.|.	ENSG00000138050|ENSG00000138050	ENST00000454352|ENST00000505747;ENST00000260619	.|.	.|.	.|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|THUMP (3);	.|0.089751	.|0.85682	.|D	.|0.000000	T|T	0.53753|0.53753	0.1816|0.1816	M|M	0.76838|0.76838	2.35|2.35	0.26005|0.26005	N|N	0.98206|0.98206	D|D;D	0.89917|0.53885	1.0|0.963;0.963	D|P;P	0.91635|0.50537	0.999|0.621;0.643	T|T	0.57124|0.57124	-0.7865|-0.7865	7|8	.|.	.|.	.|.	.|.	12.2424|12.2424	0.54551|0.54551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	275|132;241	E7EUG5|B4DP37;Q9BTF0	.|.;THUM2_HUMAN	G|E	275|241;211	.|.	.|.	E|K	-|-	2|1	0|0	THUMPD2|THUMPD2	39849097|39849097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.572000|2.572000	0.45999|0.45999	2.137000|2.137000	0.66172|0.66172	0.460000|0.460000	0.39030|0.39030	GAA|AAA		0.294	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264	
PLEKHH2	130271	broad.mit.edu	37	2	43921627	43921627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:43921627G>T	ENST00000282406.4	+	5	504	c.394G>T	c.(394-396)Gaa>Taa	p.E132*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	132					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.E132*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAAGATAAAAGAATGGGTAAC	0.264																																					p.E132X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G394T	2						.						96.0	105.0	102.0					2																	43921627		2195	4285	6480	43775131	SO:0001587	stop_gained	130271	exon5			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.394G>T	2.37:g.43921627G>T	ENSP00000282406:p.Glu132*		43775131	NM_172069	Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	37	6.294678	0.97449	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.02	5.02	0.67125	.	0.113912	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-23.154	17.9457	0.89038	0.0:0.0:1.0:0.0	.	.	.	.	X	132	.	ENSP00000282406:E132X	E	+	1	0	PLEKHH2	43775131	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.567000	0.90737	2.328000	0.79073	0.591000	0.81541	GAA		0.264	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
DYNC2LI1	51626	broad.mit.edu	37	2	44021663	44021663	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:44021663C>A	ENST00000260605.8	+	6	488	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.L4I|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.L130I|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.L130I|DYNC2LI1_ENST00000489222.2_3'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	130					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.L130I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGGAAAATCTCTTGCAAGC	0.363																																					p.L130I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C388A	2						.						82.0	87.0	85.0					2																	44021663		2203	4300	6503	43875167	SO:0001583	missense	51626	exon6				CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.388C>A	2.37:g.44021663C>A	ENSP00000260605:p.Leu130Ile		43875167	NM_001193464	A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140087	0.77775	.	.	ENSG00000138036	ENST00000260605;ENST00000443170;ENST00000406852	T;T;T	0.60920	1.47;0.15;1.37	4.81	3.93	0.45458	.	0.065212	0.64402	D	0.000006	T	0.72195	0.3430	L	0.59436	1.845	0.47584	D	0.999463	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.85130	0.995;0.997;0.995;0.955	T	0.75875	-0.3163	10	0.66056	D	0.02	-2.0258	15.5535	0.76173	0.0:0.8616:0.1383:0.0	.	130;130;130;130	Q8TCX1-2;Q8TCX1;Q8TCX1-3;Q8TCX1-4	.;DC2L1_HUMAN;.;.	I	130;4;130	ENSP00000260605:L130I;ENSP00000388941:L4I;ENSP00000385738:L130I	ENSP00000260605:L130I	L	+	1	0	DYNC2LI1	43875167	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.130000	0.71663	1.352000	0.45808	0.650000	0.86243	CTC		0.363	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008	
CAMKMT	79823	broad.mit.edu	37	2	44993588	44993588	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:44993588C>T	ENST00000378494.3	+	10	826	c.782C>T	c.(781-783)gCc>gTc	p.A261V		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	261						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						ATGGTATTTGCCCCACGCCGA	0.358																																					p.A261V												.	.	0			c.C782T	2						.						93.0	88.0	90.0					2																	44993588		2203	4300	6503	44847092	SO:0001583	missense	79823	exon10				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.782C>T	2.37:g.44993588C>T	ENSP00000367755:p.Ala261Val		44847092	NM_024766	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Missense_Mutation	SNP	ENST00000378494.3	37	CCDS1820.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262601	0.80358	.	.	ENSG00000143919	ENST00000378494	T	0.06068	3.35	5.33	5.33	0.75918	.	0.050418	0.85682	D	0.000000	T	0.24044	0.0582	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00234	-1.1893	10	0.40728	T	0.16	-7.5834	19.0385	0.92989	0.0:1.0:0.0:0.0	.	261	Q7Z624	CMKMT_HUMAN	V	261	ENSP00000367755:A261V	ENSP00000367755:A261V	A	+	2	0	CAMKMT	44847092	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.931000	0.75863	2.484000	0.83849	0.650000	0.86243	GCC		0.358	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766	
PRKCE	5581	broad.mit.edu	37	2	46313462	46313462	+	Missense_Mutation	SNP	C	C	T	rs75624882		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:46313462C>T	ENST00000306156.3	+	11	1880	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	518	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)	p.S518L(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GAGGTCACATCGGCCCTCATG	0.483																																					p.S518L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1553T	2						.						103.0	95.0	98.0					2																	46313462		1871	3815	5686	46166966	SO:0001583	missense	5581	exon11				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1553C>T	2.37:g.46313462C>T	ENSP00000306124:p.Ser518Leu		46166966	NM_005400	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711444	0.30322	.	.	ENSG00000171132	ENST00000306156	T	0.66280	-0.2	4.74	4.74	0.60224	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	N	0.04116	-0.275	0.80722	D	1	P	0.35050	0.482	B	0.30316	0.114	T	0.45948	-0.9226	10	0.02654	T	1	.	18.2691	0.90062	0.0:1.0:0.0:0.0	.	518	Q02156	KPCE_HUMAN	L	518	ENSP00000306124:S518L	ENSP00000306124:S518L	S	+	2	0	PRKCE	46166966	1.000000	0.71417	0.440000	0.26846	0.974000	0.67602	7.609000	0.82925	2.601000	0.87937	0.655000	0.94253	TCG		0.483	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2		
ATP6V1E2	90423	broad.mit.edu	37	2	46739210	46739210	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:46739210G>A	ENST00000306448.4	-	2	1754	c.641C>T	c.(640-642)gCc>gTc	p.A214V	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.A214V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	214					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.A214V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACCAAACAAGGCCATTCGTAT	0.413																																					p.A214V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C641T	2						.						91.0	92.0	91.0					2																	46739210		2203	4300	6503	46592714	SO:0001583	missense	90423	exon2			BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.641C>T	2.37:g.46739210G>A	ENSP00000304891:p.Ala214Val		46592714	NM_080653		Missense_Mutation	SNP	ENST00000306448.4	37	CCDS1826.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919566	0.33908	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.19	2.3	0.28687	.	0.172630	0.50627	D	0.000113	T	0.48429	0.1499	L	0.53617	1.68	0.34892	D	0.745635	B	0.20550	0.046	B	0.24974	0.057	T	0.53570	-0.8420	9	0.52906	T	0.07	-0.0618	6.1174	0.20134	0.1036:0.189:0.7074:0.0	.	214	Q96A05	VATE2_HUMAN	V	214	.	ENSP00000304891:A214V	A	-	2	0	ATP6V1E2	46592714	0.531000	0.26338	0.891000	0.34965	0.992000	0.81027	1.909000	0.39917	0.650000	0.30769	0.655000	0.94253	GCC		0.413	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653	
SOCS5	9655	broad.mit.edu	37	2	46985800	46985800	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:46985800A>G	ENST00000306503.5	+	2	303	c.131A>G	c.(130-132)aAc>aGc	p.N44S	SOCS5_ENST00000394861.2_Missense_Mutation_p.N44S	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	44	Required for interaction with IL4R. {ECO:0000250}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAAGAGAAAAACATCAGCATA	0.423																																					p.N44S												.	.	0			c.A131G	2						.						81.0	79.0	80.0					2																	46985800		2203	4300	6503	46839304	SO:0001583	missense	9655	exon2			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.131A>G	2.37:g.46985800A>G	ENSP00000305133:p.Asn44Ser		46839304	NM_144949	Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	A	8.094	0.775220	0.16051	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.28454	1.61;1.61	5.4	-9.36	0.00629	.	1.219670	0.05731	N	0.599622	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.11182	T	0.66	-2.6108	11.5965	0.50977	0.2236:0.2697:0.5067:0.0	.	44	O75159	SOCS5_HUMAN	S	44	ENSP00000305133:N44S;ENSP00000378330:N44S	ENSP00000305133:N44S	N	+	2	0	SOCS5	46839304	0.000000	0.05858	0.000000	0.03702	0.524000	0.34500	-0.059000	0.11731	-2.148000	0.00798	-0.959000	0.02639	AAC		0.423	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2		
SOCS5	9655	broad.mit.edu	37	2	46986986	46986986	+	Silent	SNP	C	C	T	rs142298814		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:46986986C>T	ENST00000306503.5	+	2	1489	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	SOCS5_ENST00000394861.2_Silent_p.F439F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	439	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.F439F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			ACTTTAGTTTCGACGCCCATG	0.478																																					p.F439F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1317T	2						.	C	,	0,4406		0,0,2203	125.0	121.0	123.0		1317,1317	-10.3	0.1	2	dbSNP_134	123	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	SOCS5	NM_014011.4,NM_144949.2	,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,	439/537,439/537	46986986	3,13003	2203	4300	6503	46840490	SO:0001819	synonymous_variant	9655	exon2			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1317C>T	2.37:g.46986986C>T			46840490	NM_144949	Q53SD4|Q8IYZ4	Silent	SNP	ENST00000306503.5	37	CCDS1830.1																																																																																				0.478	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2		
SOCS5	9655	broad.mit.edu	37	2	46987060	46987060	+	Missense_Mutation	SNP	C	C	T	rs149307689		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:46987060C>T	ENST00000306503.5	+	2	1563	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	SOCS5_ENST00000394861.2_Missense_Mutation_p.S464L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	464	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.S464L(3)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GATCCCAGTTCGTGCATGTTT	0.438																																					p.S464L												.	.	3	Substitution - Missense(3)	large_intestine(2)|lung(1)	c.C1391T	2						.	C	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	111.0	106.0	107.0		1391,1391	4.6	1.0	2	dbSNP_134	107	0,8600		0,0,4300	no	missense,missense	SOCS5	NM_014011.4,NM_144949.2	145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	464/537,464/537	46987060	1,13005	2203	4300	6503	46840564	SO:0001583	missense	9655	exon2			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1391C>T	2.37:g.46987060C>T	ENSP00000305133:p.Ser464Leu		46840564	NM_144949	Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781752	0.70222	2.27E-4	0.0	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32272	1.46;1.46	5.43	4.55	0.56014	SH2 motif (3);	0.055880	0.64402	D	0.000001	T	0.13072	0.0317	N	0.01352	-0.895	0.53005	D	0.999961	B	0.19583	0.037	B	0.12837	0.008	T	0.07252	-1.0782	10	0.41790	T	0.15	-20.7869	15.4335	0.75125	0.1399:0.8601:0.0:0.0	.	464	O75159	SOCS5_HUMAN	L	464	ENSP00000305133:S464L;ENSP00000378330:S464L	ENSP00000305133:S464L	S	+	2	0	SOCS5	46840564	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.651000	0.83577	1.514000	0.48869	0.655000	0.94253	TCG		0.438	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2		
MSH2	4436	broad.mit.edu	37	2	47698180	47698180	+	Nonsense_Mutation	SNP	G	G	T	rs63750141|rs63751411		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:47698180G>T	ENST00000233146.2	+	11	1961	c.1738G>T	c.(1738-1740)Gaa>Taa	p.E580*	MSH2_ENST00000406134.1_Nonsense_Mutation_p.E580*|MSH2_ENST00000543555.1_Nonsense_Mutation_p.E514*	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	580					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.E580*(1)|p.E580fs*18(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTGTTAAAGAAATTGTCAA	0.299			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E580X		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	.	.	6	Whole gene deletion(2)|Unknown(2)|Substitution - Nonsense(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|prostate(1)	c.G1738T	2	GRCh37	CM981314	MSH2	M		.						51.0	57.0	55.0					2																	47698180		2202	4294	6496	47551684	SO:0001587	stop_gained	4436	exon11	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1738G>T	2.37:g.47698180G>T	ENSP00000233146:p.Glu580*		47551684	NM_000251	B4E2Z2|O75488	Nonsense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	39	7.678716	0.98428	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-28.6557	20.2019	0.98263	0.0:0.0:1.0:0.0	rs63751411	.	.	.	X	580;514;580;580;366	.	ENSP00000233146:E580X	E	+	1	0	MSH2	47551684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.298000	0.96132	2.776000	0.95493	0.655000	0.94253	GAA		0.299	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3		
MSH6	2956	broad.mit.edu	37	2	48023129	48023129	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:48023129A>C	ENST00000234420.5	+	3	706	c.554A>C	c.(553-555)aAa>aCa	p.K185T	MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	185					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.K185T(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCTTAAATAAAGACAAGATT	0.448			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.K185T		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.A554C	2						.						78.0	72.0	74.0					2																	48023129		2203	4300	6503	47876633	SO:0001583	missense	2956	exon3	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.554A>C	2.37:g.48023129A>C	ENSP00000234420:p.Lys185Thr		47876633	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852113	0.32699	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.0	2.58	0.30949	.	0.250670	0.47093	D	0.000253	T	0.60495	0.2273	L	0.47716	1.5	0.80722	D	1	B;B	0.26041	0.14;0.0	B;B	0.33890	0.172;0.001	T	0.51309	-0.8722	10	0.14656	T	0.56	-25.1256	8.8773	0.35354	0.748:0.1282:0.0:0.1238	.	185;185	P52701;P52701-2	MSH6_HUMAN;.	T	185;183;185;86;86;86	ENSP00000234420:K185T;ENSP00000397484:K86T;ENSP00000390382:K86T;ENSP00000406248:K86T	ENSP00000234420:K185T	K	+	2	0	MSH6	47876633	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.755000	0.55197	2.100000	0.63781	0.438000	0.28831	AAA		0.448	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
MSH6	2956	broad.mit.edu	37	2	48027958	48027958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:48027958G>T	ENST00000234420.5	+	4	2988	c.2836G>T	c.(2836-2838)Gaa>Taa	p.E946*	MSH6_ENST00000540021.1_Nonsense_Mutation_p.E816*|MSH6_ENST00000538136.1_Nonsense_Mutation_p.E644*|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	946					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.E946*(3)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGACATAAGAGAAAATGAACA	0.458			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.E946X		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	MSH6,endometrium,NS,Substitution - Nonsense,0 	.	5	Substitution - Nonsense(3)|Whole gene deletion(2)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(1)	c.G2836T	2						.						45.0	45.0	45.0					2																	48027958		2203	4300	6503	47881462	SO:0001587	stop_gained	2956	exon4	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2836G>T	2.37:g.48027958G>T	ENSP00000234420:p.Glu946*		47881462	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	44	11.208734	0.99531	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	.	.	.	5.61	5.61	0.85477	.	0.538247	0.21758	N	0.069578	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.2924	9.5439	0.39268	0.194:0.0:0.806:0.0	.	.	.	.	X	946;944;816;644	.	ENSP00000234420:E946X	E	+	1	0	MSH6	47881462	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	1.916000	0.39986	2.634000	0.89283	0.563000	0.77884	GAA		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
MSH6	2956	broad.mit.edu	37	2	48030773	48030773	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:48030773T>C	ENST00000234420.5	+	5	3539	c.3387T>C	c.(3385-3387)tgT>tgC	p.C1129C	MSH6_ENST00000540021.1_Silent_p.C999C|MSH6_ENST00000538136.1_Silent_p.C827C|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1129					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.C1129C(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCCTATTGTGTGCTTGTTA	0.383			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.C1129C		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	.	.	3	Whole gene deletion(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)	c.T3387C	2						.						113.0	108.0	110.0					2																	48030773		2203	4300	6503	47884277	SO:0001819	synonymous_variant	2956	exon5	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3387T>C	2.37:g.48030773T>C			47884277	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270684	0.23221	.	.	ENSG00000116062	ENST00000543270	.	.	.	5.75	4.61	0.57282	.	.	.	.	.	T	0.51702	0.1690	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42224	-0.9464	5	0.18710	T	0.47	-17.1354	9.299	0.37833	0.0:0.1366:0.0:0.8634	.	.	.	.	A	96	.	ENSP00000445199:V96A	V	+	2	0	MSH6	47884277	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.977000	0.40589	2.190000	0.69967	0.482000	0.46254	GTG		0.383	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
GTF2A1L	11036	broad.mit.edu	37	2	48906481	48906481	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:48906481G>A	ENST00000403751.3	+	9	1374	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.R412Q|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.R1150Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.R1150Q|STON1-GTF2A1L_ENST00000402114.2_Intron|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.R1103Q|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.R1150Q	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	446					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.R1150Q(1)		lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGATTCATCGAAGCAAGAAC	0.363																																					p.R446Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1337A	2						.						136.0	131.0	133.0					2																	48906481		2203	4299	6502	48759985	SO:0001583	missense	286749	exon9			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1337G>A	2.37:g.48906481G>A	ENSP00000384597:p.Arg446Gln		48759985	NM_006872	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	G	35	5.550240	0.96501	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000430487;ENST00000403751	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.79	5.79	0.91817	Transcription factor IIA, beta-barrel (2);	0.156998	0.42682	D	0.000663	D	0.87350	0.6155	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.992;0.993	D	0.88969	0.3399	10	0.87932	D	0	.	19.0122	0.92877	0.0:0.0:1.0:0.0	.	412;1103;446;1150	Q9UNN4-2;A8MXJ1;Q9UNN4;Q53S48	.;.;TF2AY_HUMAN;.	Q	1150;1150;1150;1103;445;412;446	ENSP00000385499:R1150Q;ENSP00000378236:R1150Q;ENSP00000311493:R1150Q;ENSP00000378234:R1103Q;ENSP00000387896:R412Q;ENSP00000384597:R446Q	ENSP00000384597:R446Q	R	+	2	0	STON1-GTF2A1L;GTF2A1L	48759985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.752000	0.98900	2.718000	0.92993	0.655000	0.94253	CGA		0.363	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
FSHR	2492	broad.mit.edu	37	2	49190190	49190190	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:49190190G>T	ENST00000406846.2	-	10	1889	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L	FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000346173.3_Missense_Mutation_p.F528L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	590					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.F590L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAATGGCAAAGAAAGAAATGG	0.532									Gonadal Dysgenesis, 46 XX																												p.F564L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1692A	2						.						61.0	60.0	60.0					2																	49190190		2203	4300	6503	49043694	SO:0001583	missense	2492	exon9	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1770C>A	2.37:g.49190190G>T	ENSP00000384708:p.Phe590Leu		49043694	NM_181446	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857498	0.32791	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.35	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	L	0.53561	1.675	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.003	B;B;B	0.15870	0.014;0.008;0.014	T	0.53429	-0.8440	9	.	.	.	.	8.786	0.34821	0.231:0.0:0.769:0.0	.	564;528;590	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	590;528;564;326	ENSP00000384708:F590L;ENSP00000333908:F528L;ENSP00000306780:F564L;ENSP00000444172:F326L	.	F	-	3	2	FSHR	49043694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.409000	0.44583	1.620000	0.50308	0.655000	0.94253	TTC		0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2		
NRXN1	9378	broad.mit.edu	37	2	50779755	50779755	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:50779755G>T	ENST00000406316.2	-	9	3205	c.1729C>A	c.(1729-1731)Cat>Aat	p.H577N	NRXN1_ENST00000402717.3_Missense_Mutation_p.H569N|NRXN1_ENST00000404971.1_Missense_Mutation_p.H617N|NRXN1_ENST00000406859.3_Missense_Mutation_p.H577N|NRXN1_ENST00000401669.2_Missense_Mutation_p.H577N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.H569N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	577	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.H618N(1)|p.H577Y(1)|p.H617Y(1)|p.H577N(1)|p.H618Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGTCCACATGATACCATTCT	0.458																																					p.H617N												.	.	5	Substitution - Missense(5)	urinary_tract(3)|large_intestine(2)	c.C1849A	2						.						144.0	135.0	137.0					2																	50779755		1899	4108	6007	50633259	SO:0001583	missense	9378	exon10			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1729C>A	2.37:g.50779755G>T	ENSP00000384311:p.His577Asn		50633259	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805512	0.90623	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.85155	0.5632	L	0.42686	1.345	0.50813	D	0.999899	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.87578	0.991;0.995;0.998	T	0.82979	-0.0188	10	0.40728	T	0.16	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	617;577;569	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	617;577;569;577;618;569;577	ENSP00000385142:H617N;ENSP00000384311:H577N;ENSP00000434015:H569N;ENSP00000385017:H577N;ENSP00000385434:H569N;ENSP00000385681:H577N	ENSP00000385017:H577N	H	-	1	0	NRXN1	50633259	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.799000	0.99117	2.814000	0.96858	0.591000	0.81541	CAT		0.458	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
NRXN1	9378	broad.mit.edu	37	2	50850606	50850606	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:50850606G>A	ENST00000406316.2	-	6	2456	c.980C>T	c.(979-981)tCg>tTg	p.S327L	NRXN1_ENST00000402717.3_Missense_Mutation_p.S327L|NRXN1_ENST00000404971.1_Missense_Mutation_p.S360L|NRXN1_ENST00000406859.3_Missense_Mutation_p.S327L|NRXN1_ENST00000401669.2_Missense_Mutation_p.S327L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.S327L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	327	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.S327L(1)|p.S361L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAATCAGCCGATTTCCCAGT	0.443																																					p.S360L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1079T	2						.						186.0	173.0	178.0					2																	50850606		1892	4112	6004	50704110	SO:0001583	missense	9378	exon7			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.980C>T	2.37:g.50850606G>A	ENSP00000384311:p.Ser327Leu		50704110	NM_001135659	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622226	0.87460	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	L	0.45352	1.415	0.48830	D	0.999711	D;D;D	0.76494	0.998;0.999;0.981	P;D;P	0.81914	0.7;0.995;0.52	T	0.82566	-0.0393	10	0.38643	T	0.18	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	360;327;327	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	360;327;327;327;361;327;327	ENSP00000385142:S360L;ENSP00000384311:S327L;ENSP00000434015:S327L;ENSP00000385017:S327L;ENSP00000385434:S327L;ENSP00000385681:S327L	ENSP00000385017:S327L	S	-	2	0	NRXN1	50704110	1.000000	0.71417	0.970000	0.41538	0.874000	0.50279	9.657000	0.98554	2.776000	0.95493	0.650000	0.86243	TCG		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
TSPYL6	388951	broad.mit.edu	37	2	54482291	54482291	+	Missense_Mutation	SNP	C	C	T	rs531572033		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:54482291C>T	ENST00000317802.7	-	1	1118	c.998G>A	c.(997-999)gGc>gAc	p.G333D	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	333					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.G333D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GGGTCCATGGCCCCGGCGCCA	0.498																																					p.G333D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G998A	2						.						74.0	77.0	76.0					2																	54482291		2107	4268	6375	54335795	SO:0001583	missense	388951	exon1			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.998G>A	2.37:g.54482291C>T	ENSP00000417919:p.Gly333Asp		54335795	NM_001003937	Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405288	0.42715	.	.	ENSG00000178021	ENST00000317802	T	0.35421	1.31	1.67	-0.385	0.12470	.	.	.	.	.	T	0.44008	0.1273	M	0.63169	1.94	0.09310	N	0.999994	P	0.46952	0.887	P	0.57548	0.823	T	0.29119	-1.0022	9	0.38643	T	0.18	.	3.5943	0.08000	0.2424:0.5931:0.0:0.1645	.	333	Q8N831	TSYL6_HUMAN	D	333	ENSP00000417919:G333D	ENSP00000417919:G333D	G	-	2	0	TSPYL6	54335795	0.762000	0.28451	0.001000	0.08648	0.138000	0.21146	0.325000	0.19628	-0.129000	0.11620	0.467000	0.42956	GGC		0.498	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494	
SPTBN1	6711	broad.mit.edu	37	2	54858671	54858671	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:54858671A>C	ENST00000356805.4	+	16	3768	c.3487A>C	c.(3487-3489)Aat>Cat	p.N1163H	SPTBN1_ENST00000333896.5_Missense_Mutation_p.N1150H	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1163					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.N1163H(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAACAGACAAAATCTCCTATC	0.547																																					p.N1163H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3487C	2						.						99.0	98.0	99.0					2																	54858671		2203	4300	6503	54712175	SO:0001583	missense	6711	exon16				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3487A>C	2.37:g.54858671A>C	ENSP00000349259:p.Asn1163His		54712175	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279226	0.23307	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.50001	0.76;0.76	5.26	4.08	0.47627	.	0.183843	0.56097	N	0.000024	T	0.25717	0.0626	N	0.04090	-0.28	0.39511	D	0.968361	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.04915	-1.0918	10	0.28530	T	0.3	.	12.4404	0.55621	0.8595:0.1404:0.0:0.0	.	1150;1163	Q01082-3;Q01082	.;SPTB2_HUMAN	H	1163;1150	ENSP00000349259:N1163H;ENSP00000334156:N1150H	ENSP00000334156:N1150H	N	+	1	0	SPTBN1	54712175	1.000000	0.71417	0.654000	0.29608	0.839000	0.47603	7.392000	0.79840	0.917000	0.36895	0.533000	0.62120	AAT		0.547	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
SPTBN1	6711	broad.mit.edu	37	2	54885016	54885016	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	A	Unknown	Valid	Germline	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:54885016G>A	ENST00000356805.4	+	30	6357	c.6076G>A	c.(6076-6078)Gcc>Acc	p.A2026T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A2013T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2026	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTCAAGAGACGCCAGTGTGGC	0.582											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A2026T												.	.	0			c.G6076A	2						.						69.0	64.0	65.0					2																	54885016		2203	4300	6503	54738520	SO:0001583	missense	6711	exon30				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6076G>A	2.37:g.54885016G>A	ENSP00000349259:p.Ala2026Thr	1003	54738520	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	37	6.011881	0.97200	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.59364	0.27;0.27	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.79343	2.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.997;0.969;0.998	T	0.79042	-0.1965	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	16;2026;2013;2026	B4DIF8;Q01082-2;Q01082-3;Q01082	.;.;.;SPTB2_HUMAN	T	2026;2013	ENSP00000349259:A2026T;ENSP00000334156:A2013T	ENSP00000334156:A2013T	A	+	1	0	SPTBN1	54738520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.937000	0.99478	0.650000	0.86243	GCC		0.582	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
SPTBN1	6711	broad.mit.edu	37	2	54891627	54891627	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:54891627G>A	ENST00000356805.4	+	33	6739	c.6458G>A	c.(6457-6459)gGc>gAc	p.G2153D	AC093110.3_ENST00000456363.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2153	Mediates interaction with CAMSAP1.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.G2153D(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ATGGTCAACGGCGCTACAGAA	0.592																																					p.G2153D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6458A	2						.						195.0	176.0	182.0					2																	54891627		2203	4300	6503	54745131	SO:0001583	missense	6711	exon33				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6458G>A	2.37:g.54891627G>A	ENSP00000349259:p.Gly2153Asp		54745131	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058360	0.55325	.	.	ENSG00000115306	ENST00000356805	T	0.69926	-0.44	5.93	5.93	0.95920	.	0.197310	0.44688	D	0.000425	T	0.53932	0.1827	N	0.14661	0.345	0.80722	D	1	P;B	0.46064	0.872;0.002	B;B	0.42916	0.402;0.004	T	0.50423	-0.8830	10	0.14252	T	0.57	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	143;2153	B4DIF8;Q01082	.;SPTB2_HUMAN	D	2153	ENSP00000349259:G2153D	ENSP00000349259:G2153D	G	+	2	0	SPTBN1	54745131	1.000000	0.71417	0.990000	0.47175	0.959000	0.62525	9.807000	0.99171	2.826000	0.97356	0.655000	0.94253	GGC		0.592	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
MTIF2	4528	broad.mit.edu	37	2	55464459	55464459	+	Missense_Mutation	SNP	A	A	C	rs201850533	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:55464459A>C	ENST00000263629.4	-	15	2291	c.1976T>G	c.(1975-1977)tTt>tGt	p.F659C	MTIF2_ENST00000394600.3_Missense_Mutation_p.F659C|MTIF2_ENST00000403721.1_Missense_Mutation_p.F659C	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	659					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						GGTTAGTTTAAATTTTTTTTG	0.383													A|||	4	0.000798722	0.0	0.0	5008	,	,		16976	0.004		0.0	False		,,,				2504	0.0				p.F659C												.	.	0			c.T1976G	2						.						112.0	114.0	113.0					2																	55464459		2203	4300	6503	55317963	SO:0001583	missense	4528	exon16			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1976T>G	2.37:g.55464459A>C	ENSP00000263629:p.Phe659Cys		55317963	NM_001005369	D6W5D0	Missense_Mutation	SNP	ENST00000263629.4	37	CCDS1853.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	A	15.66	2.897979	0.52227	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600	T;T;T	0.58940	0.3;0.3;0.3	5.93	5.93	0.95920	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	L	0.35288	1.05	0.80722	D	1	B	0.29671	0.254	B	0.38755	0.281	T	0.55692	-0.8101	10	0.59425	D	0.04	-18.5883	12.245	0.54566	0.8583:0.1417:0.0:0.0	.	659	P46199	IF2M_HUMAN	C	659	ENSP00000384481:F659C;ENSP00000263629:F659C;ENSP00000378099:F659C	ENSP00000263629:F659C	F	-	2	0	MTIF2	55317963	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	6.882000	0.75589	2.265000	0.75225	0.460000	0.39030	TTT		0.383	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453	
RP11-481J13.1	0	broad.mit.edu	37	2	56216127	56216127	+	lincRNA	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:56216127G>T	ENST00000606639.1	+	0	82				AC011306.2_ENST00000446139.1_lincRNA|MIR216A_ENST00000385063.1_RNA																							TAATCCCAGAGACCACTGTGA	0.428																																					.												.	.	0			.	2						.						198.0	177.0	183.0					2																	56216127		1568	3582	5150	56069631			406998	.																															2.37:g.56216127G>T			56069631	.		RNA	SNP	ENST00000606639.1	37																																																																																					0.428	RP11-481J13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470754.1		
VRK2	7444	broad.mit.edu	37	2	58386638	58386638	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:58386638G>A	ENST00000435505.2	+	16	2082	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	FANCL_ENST00000233741.4_3'UTR|FANCL_ENST00000403295.3_3'UTR|VRK2_ENST00000417641.2_3'UTR|VRK2_ENST00000440705.2_Missense_Mutation_p.R423K|FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000412104.2_3'UTR|VRK2_ENST00000340157.4_Missense_Mutation_p.R446K			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	446	Interaction with MAP3K7.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R446K(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AAGAAGTCAAGATCTCCATCT	0.383																																					p.R423K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1268A	2						.						79.0	79.0	79.0					2																	58386638		2203	4300	6503	58240142	SO:0001583	missense	7444	exon13			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1337G>A	2.37:g.58386638G>A	ENSP00000408002:p.Arg446Lys		58240142	NM_001130482	B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	ENST00000435505.2	37	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355705	0.61293	.	.	ENSG00000028116	ENST00000435505;ENST00000340157;ENST00000440705	T;T;T	0.05025	3.51;3.51;3.51	5.86	-0.739	0.11120	.	0.522626	0.17552	N	0.170124	T	0.04907	0.0132	L	0.53249	1.67	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40979	-0.9534	10	0.19590	T	0.45	-0.6862	1.8062	0.03081	0.3228:0.1269:0.4205:0.1298	.	446	Q86Y07	VRK2_HUMAN	K	446;446;423	ENSP00000408002:R446K;ENSP00000342381:R446K;ENSP00000398323:R423K	ENSP00000342381:R446K	R	+	2	0	VRK2	58240142	0.000000	0.05858	0.000000	0.03702	0.746000	0.42486	0.434000	0.21494	-0.052000	0.13311	0.650000	0.86243	AGA		0.383	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296	
PUS10	150962	broad.mit.edu	37	2	61175254	61175254	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:61175254G>A	ENST00000316752.6	-	16	1636	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	PUS10_ENST00000407787.1_Missense_Mutation_p.R459C	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	459					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.R459C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGAATGACGCGAGCTCGCACA	0.542																																					p.R459C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1375T	2						.						179.0	177.0	178.0					2																	61175254		2203	4300	6503	61028758	SO:0001583	missense	150962	exon16			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1375C>T	2.37:g.61175254G>A	ENSP00000326003:p.Arg459Cys		61028758	NM_144709	Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339466	0.60963	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	D;D	0.89617	-2.54;-2.54	6.16	6.16	0.99307	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96390	0.8822	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96308	0.9226	10	0.87932	D	0	-4.3485	20.8598	0.99761	0.0:0.0:1.0:0.0	.	459;459	A8K6R4;Q3MIT2	.;PUS10_HUMAN	C	459	ENSP00000326003:R459C;ENSP00000386074:R459C	ENSP00000326003:R459C	R	-	1	0	PUS10	61028758	1.000000	0.71417	0.272000	0.24630	0.328000	0.28507	3.430000	0.52807	2.937000	0.99478	0.650000	0.86243	CGC		0.542	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	
USP34	9736	broad.mit.edu	37	2	61528148	61528148	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:61528148A>C	ENST00000398571.2	-	29	4142	c.4066T>G	c.(4066-4068)Tta>Gta	p.L1356V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1356					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L1356V(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATCTCTAATAAATCAAAAAGA	0.413																																					p.L1356V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4066G	2						.						129.0	127.0	128.0					2																	61528148		1878	4110	5988	61381652	SO:0001583	missense	9736	exon29			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4066T>G	2.37:g.61528148A>C	ENSP00000381577:p.Leu1356Val		61381652	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	17.69	3.451242	0.63290	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.12361	2.69	5.62	1.92	0.25849	.	0.000000	0.64402	D	0.000001	T	0.12347	0.0300	L	0.55990	1.75	0.44966	D	0.997985	B	0.02656	0.0	B	0.04013	0.001	T	0.07290	-1.0780	10	0.51188	T	0.08	.	6.5368	0.22359	0.6845:0.1197:0.1958:0.0	.	1356	Q70CQ2	UBP34_HUMAN	V	1204;1204;1356	ENSP00000381577:L1356V	ENSP00000263989:L1204V	L	-	1	2	USP34	61381652	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.221000	0.58574	0.151000	0.19162	-0.472000	0.04984	TTA		0.413	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
USP34	9736	broad.mit.edu	37	2	61546367	61546367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:61546367G>A	ENST00000398571.2	-	22	3185	c.3109C>T	c.(3109-3111)Cga>Tga	p.R1037*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1037					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R1037*(3)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTTTACTTCGAACTTGATTT	0.333																																					p.R1037X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.C3109T	2						.						125.0	115.0	118.0					2																	61546367		1862	4089	5951	61399871	SO:0001587	stop_gained	9736	exon22			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.3109C>T	2.37:g.61546367G>A	ENSP00000381577:p.Arg1037*		61399871	NM_014709	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	43	9.842842	0.99277	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9987	0.97401	0.0:0.0:1.0:0.0	.	.	.	.	X	885;885;1037	.	ENSP00000263989:R885X	R	-	1	2	USP34	61399871	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.519000	0.73768	2.738000	0.93877	0.591000	0.81541	CGA		0.333	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
UGP2	7360	broad.mit.edu	37	2	64112917	64112917	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:64112917C>T	ENST00000337130.5	+	6	1246	c.770C>T	c.(769-771)gCc>gTc	p.A257V	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.A246V|UGP2_ENST00000394417.2_Missense_Mutation_p.A246V|UGP2_ENST00000445915.2_Missense_Mutation_p.A266V|ACA59_ENST00000515966.1_RNA	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	257					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.A257V(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AATCTGGGTGCCACAGTGGAT	0.378																																					p.A246V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C737T	2						.						122.0	123.0	123.0					2																	64112917		2203	4300	6503	63966421	SO:0001583	missense	7360	exon6				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.770C>T	2.37:g.64112917C>T	ENSP00000338703:p.Ala257Val		63966421	NM_001001521	Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	C	36	5.670557	0.96754	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68610	-0.5363	10	0.87932	D	0	-6.2498	20.0545	0.97645	0.0:1.0:0.0:0.0	.	266;257	E7EUC7;Q16851	.;UGPA_HUMAN	V	246;246;257;266	ENSP00000377939:A246V;ENSP00000420793:A246V;ENSP00000338703:A257V;ENSP00000411803:A266V	ENSP00000338703:A257V	A	+	2	0	UGP2	63966421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.748000	0.94277	0.655000	0.94253	GCC		0.378	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759	
MEIS1	4211	broad.mit.edu	37	2	66691322	66691322	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:66691322T>C	ENST00000272369.9	+	7	1169	c.712T>C	c.(712-714)Tca>Cca	p.S238P	MEIS1_ENST00000444274.2_Missense_Mutation_p.S206P|MEIS1_ENST00000495021.2_Missense_Mutation_p.S173P|MEIS1_ENST00000407092.2_Missense_Mutation_p.S238P|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000560281.2_Missense_Mutation_p.S238P|MEIS1_ENST00000398506.2_Missense_Mutation_p.S236P|MEIS1_ENST00000488550.1_Missense_Mutation_p.S238P	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	238	Ser/Thr-rich.				angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.S238P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TGGCCACACGTCACACAGTGG	0.483																																					p.S238P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T712C	2						.						47.0	51.0	50.0					2																	66691322		1978	4196	6174	66544826	SO:0001583	missense	4211	exon7				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.712T>C	2.37:g.66691322T>C	ENSP00000272369:p.Ser238Pro		66544826	NM_002398	A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277586	0.59758	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000437869	D;D;D;T;D;T	0.86956	-2.18;-1.95;-1.95;1.27;-2.19;0.65	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.93259	0.7852	M	0.77313	2.365	0.50171	D	0.99985	B;D;B;D	0.76494	0.007;0.999;0.026;0.999	B;D;B;D	0.87578	0.011;0.998;0.013;0.998	D	0.93488	0.6833	10	0.52906	T	0.07	.	15.9501	0.79827	0.0:0.0:0.0:1.0	.	173;236;238;238	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	P	238;238;236;206;173;58;94;94	ENSP00000272369:S238P;ENSP00000384461:S238P;ENSP00000381518:S236P;ENSP00000403206:S206P;ENSP00000440571:S173P;ENSP00000397418:S94P	ENSP00000272369:S238P	S	+	1	0	MEIS1	66544826	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	8.040000	0.89188	2.167000	0.68274	0.528000	0.53228	TCA		0.483	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398	
PLEK	5341	broad.mit.edu	37	2	68622935	68622935	+	Missense_Mutation	SNP	G	G	A	rs199764943		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:68622935G>A	ENST00000234313.7	+	9	1219	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	347	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.R347Q(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		ATGGCCTCCCGAACTGGGAAG	0.532																																					p.R347Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1040A	2						.						88.0	87.0	87.0					2																	68622935		2203	4300	6503	68476439	SO:0001583	missense	5341	exon9			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.1040G>A	2.37:g.68622935G>A	ENSP00000234313:p.Arg347Gln		68476439	NM_002664	B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026993	0.75390	.	.	ENSG00000115956	ENST00000234313	T	0.30182	1.54	5.65	5.65	0.86999	Pleckstrin homology domain (2);	0.050984	0.85682	D	0.000000	T	0.32882	0.0844	M	0.80332	2.49	0.44149	D	0.996945	P	0.45594	0.862	B	0.37346	0.247	T	0.17776	-1.0358	10	0.18710	T	0.47	.	12.6684	0.56855	0.0759:0.0:0.9241:0.0	.	347	P08567	PLEK_HUMAN	Q	347	ENSP00000234313:R347Q	ENSP00000234313:R347Q	R	+	2	0	PLEK	68476439	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.621000	0.74228	2.677000	0.91161	0.561000	0.74099	CGA		0.532	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664	
ARHGAP25	9938	broad.mit.edu	37	2	69002543	69002543	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:69002543G>A	ENST00000295381.3	+	2	671	c.252G>A	c.(250-252)acG>acA	p.T84T	ARHGAP25_ENST00000409030.3_Silent_p.T77T|ARHGAP25_ENST00000409220.1_Silent_p.T77T|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Silent_p.T58T|ARHGAP25_ENST00000467265.1_Silent_p.T84T|ARHGAP25_ENST00000409202.3_Silent_p.T84T|ARHGAP25_ENST00000497079.1_Silent_p.T77T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	84	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.T77T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGAGGACACGAAGCCCCAGG	0.577																																					p.T77T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G231A	2						.						77.0	82.0	80.0					2																	69002543		2203	4300	6503	68856047	SO:0001819	synonymous_variant	9938	exon1			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.252G>A	2.37:g.69002543G>A			68856047	NM_001166276	A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37																																																																																					0.577	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882	
GFPT1	2673	broad.mit.edu	37	2	69585595	69585595	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:69585595C>T	ENST00000357308.4	-	6	587	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	GFPT1_ENST00000361060.5_Splice_Site_p.E137K	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	137	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.E137K(1)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CCTTTGCTTTCCTGTAAGTAG	0.323																																					p.E137K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409A	2						.						98.0	84.0	89.0					2																	69585595		2202	4300	6502	69439099	SO:0001630	splice_region_variant	2673	exon6				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.409-1G>A	2.37:g.69585595C>T			69439099	NM_002056	Q53QE6|Q9BXF8	Missense_Mutation	SNP	ENST00000357308.4	37	CCDS58713.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311279	0.60414	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.78003	-1.14;-1.14	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	L	0.60012	1.86	0.80722	D	1	P	0.45011	0.848	P	0.48227	0.571	T	0.75311	-0.3362	10	0.20046	T	0.44	-21.5939	17.2363	0.86999	0.0:1.0:0.0:0.0	.	137	Q06210-2	.	K	137	ENSP00000349860:E137K;ENSP00000354347:E137K	ENSP00000349860:E137K	E	-	1	0	GFPT1	69439099	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.467000	0.60155	2.651000	0.90000	0.561000	0.74099	GAA		0.323	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			Missense_Mutation
NFU1	27247	broad.mit.edu	37	2	69646685	69646685	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:69646685G>T	ENST00000410022.2	-	4	559	c.354C>A	c.(352-354)ttC>ttA	p.F118L	NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000303698.3_Missense_Mutation_p.F94L	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold	118					iron-sulfur cluster assembly (GO:0016226)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron ion binding (GO:0005506)	p.F118L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TGACAGTGATGAAATCTGGTC	0.308																																					p.F118L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C354A	2						.						48.0	52.0	51.0					2																	69646685		2202	4296	6498	69500189	SO:0001583	missense	27247	exon4			AJ132584	CCDS33217.1, CCDS42694.1, CCDS46315.1	2p15-p13	2014-07-03	2014-07-03	2006-10-24	ENSG00000169599	ENSG00000169599			16287	protein-coding gene	gene with protein product		608100	"""HIRA interacting protein 5"", ""NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)"""	HIRIP5		11342215, 12886008	Standard	NR_045631		Approved	CGI-33, NifU, NIFUC	uc002sfk.3	Q9UMS0	OTTHUMG00000152668	ENST00000410022.2:c.354C>A	2.37:g.69646685G>T	ENSP00000387219:p.Phe118Leu		69500189	NM_001002755	B4DUL9|Q53QE5|Q6VNZ8|Q7Z5B1|Q7Z5B2|Q9Y322	Missense_Mutation	SNP	ENST00000410022.2	37	CCDS33217.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524717	0.64747	.	.	ENSG00000169599	ENST00000410022;ENST00000303698	T;T	0.77229	-1.08;-0.99	5.22	1.51	0.23008	NIF system FeS cluster assembly, NifU-like scaffold, N-terminal (4);	0.000000	0.85682	D	0.000000	D	0.91405	0.7288	H	0.98849	4.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.973;0.994	D	0.90114	0.4194	10	0.87932	D	0	-12.6357	9.3198	0.37957	0.2839:0.0:0.7161:0.0	.	94;118	Q9UMS0-3;Q9UMS0	.;NFU1_HUMAN	L	118;94	ENSP00000387219:F118L;ENSP00000306965:F94L	ENSP00000306965:F94L	F	-	3	2	NFU1	69500189	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.683000	0.37638	0.103000	0.17682	-0.469000	0.05056	TTC		0.308	NFU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327279.3	NM_015700	
ASPRV1	151516	broad.mit.edu	37	2	70188110	70188110	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:70188110C>T	ENST00000320256.4	-	1	1287	c.711G>A	c.(709-711)caG>caA	p.Q237Q	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1									p.Q237Q(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TCTCAAAGGGCTGCAGGGTGT	0.572																																					p.Q237Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G711A	2						.						83.0	79.0	80.0					2																	70188110		2203	4300	6503	70041614	SO:0001819	synonymous_variant	151516	exon1			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.711G>A	2.37:g.70188110C>T			70041614	NM_152792		Silent	SNP	ENST00000320256.4	37	CCDS1897.1																																																																																				0.572	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792	
PCYOX1	51449	broad.mit.edu	37	2	70502210	70502210	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:70502210A>C	ENST00000433351.2	+	4	642	c.614A>C	c.(613-615)aAg>aCg	p.K205T	PCYOX1_ENST00000264441.5_Missense_Mutation_p.K205T|PCYOX1_ENST00000505044.2_Missense_Mutation_p.K128T|PCYOX1_ENST00000545138.1_Missense_Mutation_p.K127T	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	205					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)	p.K205T(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						ACCTTGCAAAAGGCCGGCTTT	0.433																																					p.K205T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A614C	2						.						149.0	150.0	150.0					2																	70502210		2203	4300	6503	70355714	SO:0001583	missense	51449	exon4			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.614A>C	2.37:g.70502210A>C	ENSP00000387654:p.Lys205Thr		70355714	NM_016297	B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317678	0.40996	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.53	5.53	0.82687	Prenylcysteine lyase (1);	0.181075	0.64402	D	0.000010	T	0.31071	0.0785	L	0.60455	1.87	0.41204	D	0.986393	P;D	0.58620	0.952;0.983	P;P	0.54965	0.636;0.765	T	0.01476	-1.1345	10	0.40728	T	0.16	-23.4387	14.6332	0.68671	1.0:0.0:0.0:0.0	.	187;205	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	T	128;128;128;205;205;128;127	ENSP00000404327:K128T;ENSP00000441566:K128T;ENSP00000413178:K128T;ENSP00000387654:K205T;ENSP00000264441:K205T;ENSP00000408751:K128T;ENSP00000439916:K127T	ENSP00000264441:K205T	K	+	2	0	PCYOX1	70355714	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	4.634000	0.61325	2.322000	0.78497	0.528000	0.53228	AAG		0.433	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297	
CLEC4F	165530	broad.mit.edu	37	2	71044073	71044073	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:71044073G>A	ENST00000272367.2	-	4	516	c.440C>T	c.(439-441)gCt>gTt	p.A147V	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A147V	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	147					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.A147V(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTGGATGTCAGCATTGGTGTT	0.478																																					p.A147V	Colon(107;10 2157 6841 26035)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C440T	2						.						141.0	118.0	126.0					2																	71044073		2203	4300	6503	70897581	SO:0001583	missense	165530	exon4			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.440C>T	2.37:g.71044073G>A	ENSP00000272367:p.Ala147Val		70897581	NM_173535	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378127	0.24944	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.03152	4.26;4.03	5.15	2.3	0.28687	.	0.000000	0.42964	D	0.000623	T	0.03305	0.0096	L	0.41824	1.3	0.09310	N	1	B;B	0.27498	0.18;0.132	B;B	0.20577	0.03;0.021	T	0.40194	-0.9576	10	0.39692	T	0.17	.	7.1819	0.25778	0.2807:0.0:0.7193:0.0	.	147;147	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	V	147	ENSP00000272367:A147V;ENSP00000390581:A147V	ENSP00000272367:A147V	A	-	2	0	CLEC4F	70897581	0.009000	0.17119	0.157000	0.22605	0.013000	0.08279	-0.123000	0.10611	0.671000	0.31185	0.467000	0.42956	GCT		0.478	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535	
DYSF	8291	broad.mit.edu	37	2	71795342	71795342	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:71795342G>A	ENST00000258104.3	+	26	2961	c.2684G>A	c.(2683-2685)gGc>gAc	p.G895D	DYSF_ENST00000409651.1_Missense_Mutation_p.G927D|DYSF_ENST00000429174.2_Missense_Mutation_p.G895D|DYSF_ENST00000410020.3_Missense_Mutation_p.G913D|DYSF_ENST00000413539.2_Missense_Mutation_p.G926D|DYSF_ENST00000409366.1_Missense_Mutation_p.G896D|DYSF_ENST00000409762.1_Missense_Mutation_p.G912D|DYSF_ENST00000409744.1_Missense_Mutation_p.G882D|DYSF_ENST00000394120.2_Missense_Mutation_p.G896D|DYSF_ENST00000409582.3_Missense_Mutation_p.G912D|DYSF_ENST00000410041.1_Missense_Mutation_p.G913D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	895					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.G895D(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGAACTGGGGCACAACGGGC	0.612																																					p.G927D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2780A	2						.						143.0	145.0	144.0					2																	71795342		2203	4300	6503	71648850	SO:0001583	missense	8291	exon27			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2684G>A	2.37:g.71795342G>A	ENSP00000258104:p.Gly895Asp		71648850	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820601	0.90873	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83755	-1.73;-1.75;-1.75;-1.75;-1.74;-1.73;-1.74;-1.76;-1.74;-1.75;-1.75	4.94	4.94	0.65067	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.90414	0.6999	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.959;0.938;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;P;P;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.996;0.996;0.996;0.996;1.0;0.749;0.747;1.0;1.0;1.0	D	0.91010	0.4849	10	0.54805	T	0.06	-30.4629	15.669	0.77258	0.0:0.0:1.0:0.0	.	927;913;896;882;913;882;912;881;926;912;895;881;896;895	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	D	926;912;912;895;895;927;896;882;896;913;913	ENSP00000407046:G926D;ENSP00000387137:G912D;ENSP00000386547:G912D;ENSP00000398305:G895D;ENSP00000258104:G895D;ENSP00000386683:G927D;ENSP00000377678:G896D;ENSP00000386285:G882D;ENSP00000386512:G896D;ENSP00000386881:G913D;ENSP00000386617:G913D	ENSP00000258104:G895D	G	+	2	0	DYSF	71648850	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.631000	0.98424	2.288000	0.76882	0.448000	0.29417	GGC		0.612	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
DYSF	8291	broad.mit.edu	37	2	71896869	71896869	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:71896869C>T	ENST00000258104.3	+	50	5937	c.5660C>T	c.(5659-5661)gCc>gTc	p.A1887V	DYSF_ENST00000409651.1_Missense_Mutation_p.A1919V|DYSF_ENST00000429174.2_Missense_Mutation_p.A1908V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.A1926V|DYSF_ENST00000413539.2_Missense_Mutation_p.A1918V|DYSF_ENST00000409366.1_Missense_Mutation_p.A1909V|DYSF_ENST00000409762.1_Missense_Mutation_p.A1904V|DYSF_ENST00000409744.1_Missense_Mutation_p.A1895V|DYSF_ENST00000394120.2_Missense_Mutation_p.A1888V|DYSF_ENST00000409582.3_Missense_Mutation_p.A1925V|DYSF_ENST00000410041.1_Missense_Mutation_p.A1905V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1887	C2 7. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.A1887V(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGTACCATTGCCAAGAAGGTC	0.542																																					p.A1919V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5756T	2						.						162.0	135.0	144.0					2																	71896869		2203	4300	6503	71750377	SO:0001583	missense	8291	exon51			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5660C>T	2.37:g.71896869C>T	ENSP00000258104:p.Ala1887Val		71750377	NM_001130982	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841653	0.32513	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	4.87	4.87	0.63330	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.948566	0.08948	N	0.870598	D	0.82793	0.5114	L	0.47716	1.5	0.26033	N	0.981714	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.22800	0.075;0.036;0.036;0.036;0.036;0.018;0.018;0.018;0.018;0.036;0.009;0.004;0.02;0.036;0.045	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.32289	0.143;0.032;0.06;0.06;0.06;0.048;0.088;0.088;0.06;0.06;0.038;0.038;0.06;0.06;0.099	T	0.73388	-0.3998	10	0.59425	D	0.04	-9.779	15.8904	0.79293	0.0:1.0:0.0:0.0	.	651;1919;1926;1909;1874;1905;1895;1904;1894;1918;1925;1908;1873;1888;1887	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	1918;1904;1925;1908;1887;1919;1888;1895;1909;1926;1905	ENSP00000407046:A1918V;ENSP00000387137:A1904V;ENSP00000386547:A1925V;ENSP00000398305:A1908V;ENSP00000258104:A1887V;ENSP00000386683:A1919V;ENSP00000377678:A1888V;ENSP00000386285:A1895V;ENSP00000386512:A1909V;ENSP00000386881:A1926V;ENSP00000386617:A1905V	ENSP00000258104:A1887V	A	+	2	0	DYSF	71750377	0.109000	0.22037	0.899000	0.35326	0.236000	0.25371	3.545000	0.53648	2.698000	0.92095	0.655000	0.94253	GCC		0.542	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
PRADC1	84279	broad.mit.edu	37	2	73455649	73455649	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:73455649G>T	ENST00000258083.2	-	5	567	c.500C>A	c.(499-501)tCc>tAc	p.S167Y	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	167						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.S167Y(1)		endometrium(1)|large_intestine(1)|lung(2)	4						GACTGGGATGGAAATGATGGC	0.557																																					p.S167Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500A	2						.						88.0	74.0	79.0					2																	73455649		2203	4300	6503	73309157	SO:0001583	missense	84279	exon5			BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.500C>A	2.37:g.73455649G>T	ENSP00000258083:p.Ser167Tyr		73309157	NM_032319	Q2Z1P2	Missense_Mutation	SNP	ENST00000258083.2	37	CCDS1924.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656303	0.67586	.	.	ENSG00000135617	ENST00000258083	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.74489	0.3723	L	0.54323	1.7	0.50171	D	0.999853	D	0.71674	0.998	D	0.77557	0.99	T	0.71984	-0.4427	9	0.35671	T	0.21	-7.6587	16.9218	0.86166	0.0:0.0:1.0:0.0	.	167	Q9BSG0	PADC1_HUMAN	Y	167	.	ENSP00000258083:S167Y	S	-	2	0	PRADC1	73309157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.299000	0.72770	2.656000	0.90262	0.655000	0.94253	TCC		0.557	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319	
ALMS1	7840	broad.mit.edu	37	2	73677023	73677023	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:73677023T>G	ENST00000264448.6	+	8	3477	c.3366T>G	c.(3364-3366)atT>atG	p.I1122M	ALMS1_ENST00000409009.1_Missense_Mutation_p.I1080M|ALMS1_ENST00000377715.1_Missense_Mutation_p.I1122M	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1122	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.I1122M(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCTGAAAATTTCAGTAGCTC	0.468																																					p.I1122M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3366G	2						.						125.0	125.0	125.0					2																	73677023		1846	4109	5955	73530531	SO:0001583	missense	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3366T>G	2.37:g.73677023T>G	ENSP00000264448:p.Ile1122Met		73530531	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371417	0.42003	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19806	3.0;3.0;2.12	4.55	0.664	0.17890	.	2.383320	0.01871	N	0.037242	T	0.24084	0.0583	N	0.22421	0.69	0.09310	N	1	D;D;D	0.60575	0.988;0.988;0.987	P;P;P	0.56278	0.763;0.666;0.795	T	0.09250	-1.0683	10	0.66056	D	0.02	.	1.4145	0.02299	0.178:0.098:0.1851:0.5389	.	1122;1080;1122	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	M	1080;1122;1122	ENSP00000386627:I1080M;ENSP00000264448:I1122M;ENSP00000366944:I1122M	ENSP00000264448:I1122M	I	+	3	3	ALMS1	73530531	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.161000	0.10026	0.107000	0.17824	0.533000	0.62120	ATT		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
ALMS1	7840	broad.mit.edu	37	2	73677629	73677629	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:73677629G>T	ENST00000264448.6	+	8	4083	c.3972G>T	c.(3970-3972)gtG>gtT	p.V1324V	ALMS1_ENST00000409009.1_Silent_p.V1282V|ALMS1_ENST00000377715.1_Silent_p.V1324V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1324	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.V1324V(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAAGACTGTGATACCAATTT	0.463																																					p.V1324V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3972T	2						.						140.0	140.0	140.0					2																	73677629		1854	4090	5944	73531137	SO:0001819	synonymous_variant	7840	exon8			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3972G>T	2.37:g.73677629G>T			73531137	NM_015120	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.463	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
SLC4A5	57835	broad.mit.edu	37	2	74452100	74452100	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:74452100C>T	ENST00000377634.4	-	29	3560	c.3161G>A	c.(3160-3162)cGa>cAa	p.R1054Q	SLC4A5_ENST00000346834.4_Missense_Mutation_p.R957Q|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R1054Q|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R936Q|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R936Q|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R957Q|SLC4A5_ENST00000423644.1_Silent_p.S978S|SLC4A5_ENST00000394019.2_Missense_Mutation_p.R1038Q|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.R1038Q(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGAAGCCTTCGAACGATGAT	0.463																																					p.R1054Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3161A	2						.						81.0	81.0	81.0					2																	74452100		2203	4300	6503	74305608	SO:0001583	missense	57835	exon24			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3161G>A	2.37:g.74452100C>T	ENSP00000366861:p.Arg1054Gln		74305608	NM_021196		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.93|16.93	3.258683|3.258683	0.59321|0.59321	.|.	.|.	ENSG00000188687|ENSG00000188687	ENST00000425249|ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634	T|D;D;D;D;D;D;D	0.67698|0.82081	-0.28|-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91868|0.91868	0.7426|0.7426	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	P|D;D;P;D	0.41710|0.76494	0.76|0.999;0.967;0.898;0.999	B|D;P;B;D	0.31191|0.77557	0.125|0.99;0.79;0.234;0.981	D|D	0.93090|0.93090	0.6499|0.6499	9|10	0.87932|0.87932	D|D	0|0	.|.	15.7929|15.7929	0.78380|0.78380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	946|957;936;1054;1038	E7EQT3|Q9BY07-4;Q9BY07-7;Q9BY07;Q9BY07-3	.|.;.;S4A5_HUMAN;.	K|Q	946|1038;1059;957;936;936;1054;957;1054	ENSP00000405678:E946K|ENSP00000377587:R1038Q;ENSP00000251768:R957Q;ENSP00000352461:R936Q;ENSP00000351513:R936Q;ENSP00000350475:R1054Q;ENSP00000366859:R957Q;ENSP00000366861:R1054Q	ENSP00000405678:E946K|ENSP00000251768:R957Q	E|R	-|-	1|2	0|0	SLC4A5|SLC4A5	74305608|74305608	0.994000|0.994000	0.37717|0.37717	0.979000|0.979000	0.43373|0.43373	0.220000|0.220000	0.24768|0.24768	7.638000|7.638000	0.83328|0.83328	2.580000|2.580000	0.87095|0.87095	0.609000|0.609000	0.83330|0.83330	GAA|CGA		0.463	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
HTRA2	27429	broad.mit.edu	37	2	74760029	74760029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:74760029C>T	ENST00000258080.3	+	8	1924	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Nonsense_Mutation_p.R335*|LOXL3_ENST00000409249.1_3'UTR|LOXL3_ENST00000264094.3_3'UTR|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	432	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGAAGCTGTTCGAACCCAATC	0.488																																					p.R432X												.	.	0			c.C1294T	2						.						159.0	171.0	167.0					2																	74760029		2203	4300	6503	74613537	SO:0001587	stop_gained	27429	exon8				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.1294C>T	2.37:g.74760029C>T	ENSP00000258080:p.Arg432*		74613537	NM_013247	Q9HBZ4|Q9P0Y3|Q9P0Y4	Nonsense_Mutation	SNP	ENST00000258080.3	37	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293884	0.81025	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	.	.	.	4.81	4.81	0.61882	.	0.150930	0.42294	D	0.000737	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-5.1543	15.4041	0.74863	0.0:1.0:0.0:0.0	.	.	.	.	X	432;335;397	.	ENSP00000258080:R432X	R	+	1	2	HTRA2	74613537	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.743000	0.38258	2.490000	0.84030	0.514000	0.50259	CGA		0.488	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247	
M1AP	130951	broad.mit.edu	37	2	74808904	74808904	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:74808904G>T	ENST00000290536.5	-	5	782	c.666C>A	c.(664-666)ttC>ttA	p.F222L	M1AP_ENST00000536235.1_Missense_Mutation_p.F222L|M1AP_ENST00000409585.1_Missense_Mutation_p.F222L|M1AP_ENST00000358434.2_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	222					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.F222L(1)									AGGCTTTGAAGAAAATCTCCA	0.398																																					p.F222L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C666A	2						.						207.0	194.0	199.0					2																	74808904		2203	4300	6503	74662412	SO:0001583	missense	130951	exon5				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.666C>A	2.37:g.74808904G>T	ENSP00000290536:p.Phe222Leu		74662412	NM_138804	B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613519	0.46631	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.40476	1.03;1.03;1.03	5.76	3.99	0.46301	.	0.133576	0.52532	D	0.000069	T	0.44329	0.1288	M	0.71581	2.175	0.80722	D	1	P;B;P	0.52061	0.95;0.111;0.95	P;B;P	0.46275	0.51;0.041;0.51	T	0.32348	-0.9910	10	0.28530	T	0.3	0.7316	9.4149	0.38514	0.1495:0.0:0.8505:0.0	.	222;222;222	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	L	222	ENSP00000290536:F222L;ENSP00000386793:F222L;ENSP00000445662:F222L	ENSP00000290536:F222L	F	-	3	2	C2orf65	74662412	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.696000	0.37773	0.794000	0.33899	-1.008000	0.02478	TTC		0.398	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804	
TACR1	6869	broad.mit.edu	37	2	75347720	75347720	+	Silent	SNP	C	C	T	rs199842504		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:75347720C>T	ENST00000305249.5	-	2	1329	c.564G>A	c.(562-564)ccG>ccA	p.P188P	TACR1_ENST00000497764.1_5'UTR|TACR1_ENST00000409848.3_Silent_p.P188P	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	188					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.P188P(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AAATCTTGTTCGGATGCTCTG	0.537																																					p.P188P	Pancreas(64;62 1268 3653 14826 43765)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G564A	2						.						83.0	72.0	76.0					2																	75347720		2203	4300	6503	75201228	SO:0001819	synonymous_variant	6869	exon2			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.564G>A	2.37:g.75347720C>T			75201228	NM_015727	A8K150	Silent	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																				0.537	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	
TACR1	6869	broad.mit.edu	37	2	75347750	75347750	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:75347750G>A	ENST00000305249.5	-	2	1299	c.534C>T	c.(532-534)gtC>gtT	p.V178V	TACR1_ENST00000497764.1_5'UTR|TACR1_ENST00000409848.3_Silent_p.V178V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	178					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.V178V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCATGCACACGACTCTGCTGG	0.542																																					p.V178V	Pancreas(64;62 1268 3653 14826 43765)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C534T	2						.						99.0	89.0	92.0					2																	75347750		2203	4300	6503	75201258	SO:0001819	synonymous_variant	6869	exon2			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.534C>T	2.37:g.75347750G>A			75201258	NM_015727	A8K150	Silent	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																				0.542	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3	NM_001058	
LRRTM4	80059	broad.mit.edu	37	2	77746414	77746414	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:77746414C>T	ENST00000409093.1	-	3	917	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	LRRTM4_ENST00000409088.3_Missense_Mutation_p.R194Q|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R194Q|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R195Q|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R195Q			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	194					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.R194Q(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGACAAGCTTCGAAGACGATT	0.418																																					p.R194Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G581A	2						.						66.0	64.0	65.0					2																	77746414		1857	4082	5939	77599922	SO:0001583	missense	80059	exon3			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.581G>A	2.37:g.77746414C>T	ENSP00000386357:p.Arg194Gln		77599922	NM_024993	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219962	0.58560	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.83	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	N	0.04335	-0.225	0.48696	D	0.999692	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.984;0.991	T	0.57335	-0.7829	10	0.36615	T	0.2	.	13.5195	0.61559	0.0:0.9245:0.0:0.0755	.	195;194;194	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	Q	195;194;194;194;195	ENSP00000387228:R195Q;ENSP00000387297:R194Q;ENSP00000386357:R194Q;ENSP00000386236:R194Q;ENSP00000386286:R195Q	ENSP00000386236:R194Q	R	-	2	0	LRRTM4	77599922	0.958000	0.32768	0.288000	0.24862	0.985000	0.73830	7.818000	0.86416	1.469000	0.48083	0.563000	0.77884	CGA		0.418	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993	
GGCX	2677	broad.mit.edu	37	2	85781312	85781312	+	Missense_Mutation	SNP	G	G	T	rs150275883		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:85781312G>T	ENST00000233838.4	-	7	923	c.843C>A	c.(841-843)ttC>ttA	p.F281L	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.F224L	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	281					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)	p.F281L(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	AGGACACAAAGAACAGTCCAA	0.512																																					p.F281L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C843A	2						.						169.0	165.0	166.0					2																	85781312		2203	4300	6503	85634823	SO:0001583	missense	2677	exon7				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.843C>A	2.37:g.85781312G>T	ENSP00000233838:p.Phe281Leu		85634823	NM_000821	B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	7.774	0.708000	0.15239	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.91464	-2.85;-2.85	5.91	4.03	0.46877	HTTM (1);	0.446463	0.28420	N	0.015403	T	0.77191	0.4094	N	0.16656	0.425	0.51767	D	0.999934	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.67126	-0.5749	10	0.06891	T	0.86	-0.0081	5.7332	0.18051	0.1575:0.1703:0.6722:0.0	.	224;120;281	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	L	281;224	ENSP00000233838:F281L;ENSP00000408045:F224L	ENSP00000233838:F281L	F	-	3	2	GGCX	85634823	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.404000	0.44539	2.804000	0.96469	0.462000	0.41574	TTC		0.512	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821	
USP39	10713	broad.mit.edu	37	2	85868177	85868177	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:85868177A>C	ENST00000323701.6	+	10	1373	c.1363A>C	c.(1363-1365)Aag>Cag	p.K455Q	USP39_ENST00000450066.2_Missense_Mutation_p.K352Q|USP39_ENST00000409766.3_Missense_Mutation_p.K455Q|USP39_ENST00000409470.1_Missense_Mutation_p.K455Q|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Missense_Mutation_p.K455Q	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	455	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)	p.K455Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CTTTTGTATCAAGAGATTCAC	0.378																																					p.K455Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1363C	2						.						74.0	75.0	74.0					2																	85868177		2203	4300	6503	85721688	SO:0001583	missense	10713	exon10			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"""Ubiquitin-specific peptidases"""	20071	protein-coding gene	gene with protein product	"""snRNP assembly defective 1 homolog (S.cerevisiae)"", ""small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"""	611594	"""ubiquitin specific protease 39"""			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1363A>C	2.37:g.85868177A>C	ENSP00000312981:p.Lys455Gln		85721688	NM_006590	A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	ENST00000323701.6	37	CCDS33234.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570292	0.86542	.	.	ENSG00000168883	ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	6.06	6.06	0.98353	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	M	0.90922	3.16	0.80722	D	1	D;P;D;D;D;D	0.89917	0.967;0.95;0.984;0.997;1.0;0.986	P;P;P;D;D;D	0.85130	0.838;0.84;0.894;0.961;0.997;0.93	T	0.75074	-0.3446	10	0.62326	D	0.03	-7.317	14.5614	0.68140	1.0:0.0:0.0:0.0	.	352;377;455;455;455;455	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	Q	352;392;455;455;455;455	ENSP00000396133:K352Q;ENSP00000386572:K455Q;ENSP00000386864:K455Q;ENSP00000312981:K455Q;ENSP00000386803:K455Q	ENSP00000312981:K455Q	K	+	1	0	USP39	85721688	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.700000	0.91322	2.324000	0.78689	0.533000	0.62120	AAG		0.378	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329892.1	NM_006590	
RPIA	22934	broad.mit.edu	37	2	89035244	89035244	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:89035244G>A	ENST00000283646.4	+	6	641	c.586G>A	c.(586-588)Gct>Act	p.A196T		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	196					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)	p.A196T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				CATCGTGATCGCTGATTTCAG	0.493																																					p.A196T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G586A	2						.						171.0	164.0	166.0					2																	89035244		1982	4166	6148	88816359	SO:0001583	missense	22934	exon6			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.586G>A	2.37:g.89035244G>A	ENSP00000283646:p.Ala196Thr		88816359	NM_144563	Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	G	34	5.293948	0.95546	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.79845	-1.31	5.79	5.79	0.91817	.	0.146307	0.64402	D	0.000010	D	0.92322	0.7564	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93196	0.6587	10	0.72032	D	0.01	-3.2205	19.635	0.95728	0.0:0.0:1.0:0.0	.	196	P49247	RPIA_HUMAN	T	196;62	ENSP00000283646:A196T	ENSP00000283646:A196T	A	+	1	0	RPIA	88816359	1.000000	0.71417	0.951000	0.38953	0.733000	0.41908	8.609000	0.90898	2.733000	0.93635	0.655000	0.94253	GCT		0.493	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2		
MRPS5	64969	broad.mit.edu	37	2	95774015	95774015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:95774015C>T	ENST00000272418.2	-	5	750	c.542G>A	c.(541-543)cGa>cAa	p.R181Q		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	181					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R181Q(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTTCTTCTTTCGGTCCCACTC	0.537																																					p.R181Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542A	2						.						213.0	178.0	190.0					2																	95774015		2203	4300	6503	95137742	SO:0001583	missense	64969	exon5			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.542G>A	2.37:g.95774015C>T	ENSP00000272418:p.Arg181Gln		95137742	NM_031902	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406028	0.42715	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.25	3.41	0.39046	.	0.173426	0.49305	D	0.000148	T	0.39306	0.1073	M	0.70595	2.14	0.29619	N	0.846303	P;P	0.48503	0.911;0.797	B;B	0.40285	0.325;0.075	T	0.50065	-0.8871	9	0.66056	D	0.02	-3.1036	8.0065	0.30327	0.0:0.7413:0.0:0.2587	.	181;181	B4DIW8;P82675	.;RT05_HUMAN	Q	181	.	ENSP00000272418:R181Q	R	-	2	0	MRPS5	95137742	1.000000	0.71417	0.984000	0.44739	0.024000	0.10985	1.284000	0.33249	1.342000	0.45619	0.462000	0.41574	CGA		0.537	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902	
MRPS5	64969	broad.mit.edu	37	2	95775699	95775699	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:95775699T>G	ENST00000272418.2	-	4	573	c.365A>C	c.(364-366)aAa>aCa	p.K122T		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	122					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.K122T(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCTTTCTTTTCTTCTTTTT	0.383																																					p.K122T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A365C	2						.						76.0	80.0	79.0					2																	95775699		2203	4300	6503	95139426	SO:0001583	missense	64969	exon4			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.365A>C	2.37:g.95775699T>G	ENSP00000272418:p.Lys122Thr		95139426	NM_031902	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	T	8.162	0.789848	0.16258	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.6	-1.17	0.09648	.	0.542173	0.19909	N	0.103336	T	0.22781	0.0550	L	0.28694	0.88	0.20926	N	0.99982	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.002	T	0.21621	-1.0240	9	0.15066	T	0.55	-9.3517	5.9413	0.19194	0.1291:0.3492:0.0:0.5217	.	122;122	B4DIW8;P82675	.;RT05_HUMAN	T	122	.	ENSP00000272418:K122T	K	-	2	0	MRPS5	95139426	0.211000	0.23529	0.918000	0.36340	0.826000	0.46750	0.920000	0.28705	-0.468000	0.06922	-0.376000	0.06991	AAA		0.383	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902	
ZNF2	7549	broad.mit.edu	37	2	95847338	95847338	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:95847338G>T	ENST00000340539.5	+	5	1227	c.765G>T	c.(763-765)gaG>gaT	p.E255D	ZNF2_ENST00000295210.6_Missense_Mutation_p.E217D|ZNF2_ENST00000398107.2_Missense_Mutation_p.E213D|ZNF2_ENST00000453539.2_Missense_Mutation_p.E268D|ZNF2_ENST00000425369.1_Missense_Mutation_p.E175D	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	255					regulation of transcription, DNA-templated (GO:0006355)|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)	p.E255D(1)		endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ACACTGGAGAGAAACCCTTTC	0.488																																					p.E213D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G639T	2						.						110.0	124.0	119.0					2																	95847338		2197	4298	6495	95211065	SO:0001583	missense	7549	exon4			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"""Zinc fingers, C2H2-type"", ""-"""	12991	protein-coding gene	gene with protein product		194500	"""zinc finger protein 2 (A1-5)"""			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.765G>T	2.37:g.95847338G>T	ENSP00000345392:p.Glu255Asp		95211065	NM_001017396	A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	ENST00000340539.5	37	CCDS42712.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447136	0.43429	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000253	T	0.43389	0.1245	L	0.44542	1.39	0.42518	D	0.992991	B;P;D	0.60575	0.256;0.771;0.988	B;P;D	0.70935	0.145;0.553;0.971	T	0.28964	-1.0027	10	0.66056	D	0.02	-31.7685	16.0928	0.81102	0.0:0.0:1.0:0.0	.	217;213;254	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	D	213;255;175;217;268	ENSP00000381178:E213D;ENSP00000345392:E255D;ENSP00000406017:E175D;ENSP00000295210:E217D;ENSP00000411051:E268D	ENSP00000295210:E217D	E	+	3	2	ZNF2	95211065	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	2.255000	0.43222	2.652000	0.90054	0.655000	0.94253	GAG		0.488	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338595.2	NM_021088	
SNRNP200	23020	broad.mit.edu	37	2	96957512	96957512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:96957512G>A	ENST00000323853.5	-	17	2364	c.2287C>T	c.(2287-2289)Cga>Tga	p.R763*	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	763	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R763*(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTTCTGTTCGCAGGACTTCT	0.587																																					p.R763X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2287T	2						.						61.0	59.0	60.0					2																	96957512		2203	4300	6503	96321239	SO:0001587	stop_gained	23020	exon17			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2287C>T	2.37:g.96957512G>A	ENSP00000317123:p.Arg763*		96321239	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Nonsense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	40	8.046282	0.98627	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	.	.	.	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1802	14.2479	0.65999	0.0:0.0:0.7302:0.2698	.	.	.	.	X	763;438	.	ENSP00000317123:R763X	R	-	1	2	SNRNP200	96321239	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.987000	0.40687	1.595000	0.50050	0.655000	0.94253	CGA		0.587	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
NCAPH	23397	broad.mit.edu	37	2	97007521	97007521	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:97007521A>C	ENST00000240423.4	+	2	204	c.161A>C	c.(160-162)gAc>gCc	p.D54A	NCAPH_ENST00000455200.1_Missense_Mutation_p.D43A|NCAPH_ENST00000427946.1_Intron	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	54					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.D54A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTCCTCGAAGACTTTCCTCAG	0.597																																					p.D54A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A161C	2						.						78.0	84.0	82.0					2																	97007521		2203	4300	6503	96371248	SO:0001583	missense	23397	exon2			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.161A>C	2.37:g.97007521A>C	ENSP00000240423:p.Asp54Ala		96371248	NM_015341	B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.254075	0.39896	.	.	ENSG00000121152	ENST00000240423;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T	0.44083	0.95;0.93;0.96	5.66	4.51	0.55191	.	0.217684	0.51477	D	0.000098	T	0.29458	0.0734	L	0.45137	1.4	0.31566	N	0.656862	B;B;B;B	0.32324	0.064;0.164;0.364;0.164	B;B;B;B	0.27887	0.045;0.045;0.084;0.045	T	0.28427	-1.0044	10	0.25751	T	0.34	-27.6992	7.5653	0.27874	0.9063:0.0:0.0937:0.0	.	30;43;43;54	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	A	54;43;54;43	ENSP00000240423:D54A;ENSP00000405237:D43A;ENSP00000407308:D43A	ENSP00000240423:D54A	D	+	2	0	NCAPH	96371248	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.066000	0.41452	2.161000	0.67846	0.528000	0.53228	GAC		0.597	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341	
FER1L5	90342	broad.mit.edu	37	2	97366095	97366095	+	RNA	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:97366095T>G	ENST00000457909.1	+	0	4460							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1680V(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGTTCATGGTTTGGGACCCAA	0.582																																					p.L1680V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5038G	2						.						100.0	112.0	108.0					2																	97366095		2052	4176	6228	96729822			90342	exon44			BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97366095T>G			96729822	NM_001113382	Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37		.	.	.	.	.	.	.	.	.	.	T	14.45	2.538128	0.45176	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.05	-1.41	0.08941	.	0.237349	0.20307	U	0.094914	T	0.69762	0.3147	M	0.79011	2.435	.	.	.	D;D;D	0.76494	0.99;0.999;0.994	P;D;P	0.67231	0.656;0.95;0.814	T	0.74802	-0.3541	8	0.46703	T	0.11	-12.7439	11.0329	0.47783	0.0:0.6091:0.0:0.3909	.	397;1680;398	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	V	1680;1693;398	.	ENSP00000442027:L398V	L	+	1	2	FER1L5	96729822	0.008000	0.16893	0.030000	0.17652	0.916000	0.54674	-0.040000	0.12104	-0.247000	0.09597	-0.379000	0.06801	TTG		0.582	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400	
VWA3B	200403	broad.mit.edu	37	2	98750294	98750294	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:98750294G>A	ENST00000477737.1	+	7	1084	c.880G>A	c.(880-882)Gca>Aca	p.A294T	VWA3B_ENST00000435344.1_Missense_Mutation_p.A294T|VWA3B_ENST00000451075.2_Missense_Mutation_p.A144T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	294								p.A294T(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGATTCCACGCATTTGCCGA	0.473																																					p.A294T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G880A	2						.						286.0	271.0	276.0					2																	98750294		2096	4230	6326	98116726	SO:0001583	missense	200403	exon7			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.880G>A	2.37:g.98750294G>A	ENSP00000417955:p.Ala294Thr		98116726	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340765	0.41498	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.17691	7.26;7.26;2.26	5.66	4.78	0.61160	.	0.192332	0.36101	N	0.002800	T	0.41050	0.1142	M	0.71581	2.175	0.09310	N	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.963;0.998;0.995	T	0.29212	-1.0019	10	0.66056	D	0.02	.	13.8967	0.63775	0.0:0.1528:0.8472:0.0	.	144;294;294	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	T	294;294;144	ENSP00000401959:A294T;ENSP00000417955:A294T;ENSP00000389463:A144T	ENSP00000411168:A294T	A	+	1	0	VWA3B	98116726	1.000000	0.71417	0.021000	0.16686	0.002000	0.02628	5.615000	0.67702	1.372000	0.46190	-0.176000	0.13171	GCA		0.473	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
VWA3B	200403	broad.mit.edu	37	2	98907012	98907012	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:98907012A>C	ENST00000477737.1	+	23	3288	c.3084A>C	c.(3082-3084)aaA>aaC	p.K1028N	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1028								p.K1028N(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAAAACCAAATCAAAAAGAC	0.323																																					p.K1028N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3084C	2						.						88.0	85.0	86.0					2																	98907012		1826	4074	5900	98273444	SO:0001583	missense	200403	exon23			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3084A>C	2.37:g.98907012A>C	ENSP00000417955:p.Lys1028Asn		98273444	NM_144992	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.51|13.51	2.258965|2.258965	0.39896|0.39896	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737;ENST00000358269	.|T	.|0.08282	.|3.11	4.52|4.52	3.35|3.35	0.38373|0.38373	.|.	.|0.195273	.|0.34507	.|N	.|0.003911	T|T	0.17831|0.17831	0.0428|0.0428	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.89917	.|1.0;0.987;0.919	.|D;P;P	.|0.74348	.|0.983;0.648;0.51	T|T	0.00785|0.00785	-1.1567|-1.1567	5|10	.|0.45353	.|T	.|0.12	.|.	7.9448|7.9448	0.29980|0.29980	0.9034:0.0:0.0966:0.0|0.9034:0.0:0.0966:0.0	.|.	.|420;1028;1028	.|Q502W6-5;Q502W6;Q502W6-8	.|.;VWA3B_HUMAN;.	L|N	439|1028;150	.|ENSP00000417955:K1028N	.|ENSP00000351009:K150N	I|K	+|+	1|3	0|2	VWA3B|VWA3B	98273444|98273444	0.993000|0.993000	0.37304|0.37304	0.888000|0.888000	0.34837|0.34837	0.294000|0.294000	0.27393|0.27393	1.625000|1.625000	0.37029|0.37029	0.865000|0.865000	0.35603|0.35603	0.455000|0.455000	0.32223|0.32223	ATC|AAA		0.323	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
LYG2	254773	broad.mit.edu	37	2	99858878	99858878	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:99858878G>A	ENST00000409238.1	-	5	608	c.588C>T	c.(586-588)ttC>ttT	p.F196F	LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000333017.2_Silent_p.F196F			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	196					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.F196F(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TATCATTGACGAAGTCATTGT	0.463																																					p.F196F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C588T	2						.						150.0	142.0	145.0					2																	99858878		2203	4300	6503	99225310	SO:0001819	synonymous_variant	254773	exon6			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.588C>T	2.37:g.99858878G>A			99225310	NM_175735	Q496G2|Q53RW0	Silent	SNP	ENST00000409238.1	37	CCDS2042.1																																																																																				0.463	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735	
REV1	51455	broad.mit.edu	37	2	100029254	100029254	+	Missense_Mutation	SNP	C	C	T	rs28382942	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:100029254C>T	ENST00000258428.3	-	13	2339	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.R703Q	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	704			R -> Q (in dbSNP:rs28382942).		DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.R704Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTTTCAGTTCGAACTGGTCT	0.398								Direct reversal of damage					C|||	34	0.00678914	0.0	0.0	5008	,	,		18556	0.0337		0.0	False		,,,				2504	0.0				p.R704Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2111A	2						.						126.0	115.0	119.0					2																	100029254		2203	4300	6503	99395686	SO:0001583	missense	51455	exon13			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2111G>A	2.37:g.100029254C>T	ENSP00000258428:p.Arg704Gln		99395686	NM_016316	O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	CCDS2045.1	23	0.010531135531135532	0	0.0	0	0.0	23	0.04020979020979021	0	0.0	C	18.47	3.630762	0.67015	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.34072	1.38;1.38	5.46	4.58	0.56647	DNA polymerase, Y-family, little finger domain (1);	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	N	0.11892	0.195	0.58432	D	0.999996	B;P	0.40909	0.413;0.732	B;B	0.36464	0.085;0.225	T	0.03750	-1.1007	10	0.20519	T	0.43	.	12.0044	0.53251	0.0:0.8626:0.0:0.1374	rs28382942;rs28382942	704;703	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	Q	703;704	ENSP00000377091:R703Q;ENSP00000258428:R704Q	ENSP00000258428:R704Q	R	-	2	0	REV1	99395686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.381000	0.59587	2.563000	0.86464	0.650000	0.86243	CGA		0.398	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
REV1	51455	broad.mit.edu	37	2	100046382	100046382	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:100046382C>T	ENST00000258428.3	-	9	1695	c.1467G>A	c.(1465-1467)gaG>gaA	p.E489E	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.E488E	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	489	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.E489E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATCTGGATTCTCCCACAATG	0.328								Direct reversal of damage																													p.E489E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1467A	2						.						82.0	75.0	77.0					2																	100046382		2203	4300	6503	99412814	SO:0001819	synonymous_variant	51455	exon9			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1467G>A	2.37:g.100046382C>T			99412814	NM_016316	O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	CCDS2045.1																																																																																				0.328	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316	
AFF3	3899	broad.mit.edu	37	2	100623212	100623212	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:100623212T>G	ENST00000409236.2	-	5	867	c.755A>C	c.(754-756)aAg>aCg	p.K252T	AFF3_ENST00000317233.4_Missense_Mutation_p.K252T|AFF3_ENST00000409579.1_Missense_Mutation_p.K277T|AFF3_ENST00000356421.2_Missense_Mutation_p.K277T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	252					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.K277T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGAAGACGACTTCAGCTTAGG	0.587																																					p.K277T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A830C	2						.						70.0	66.0	67.0					2																	100623212		2203	4300	6503	99989644	SO:0001583	missense	3899	exon6			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.755A>C	2.37:g.100623212T>G	ENSP00000387207:p.Lys252Thr		99989644	NM_001025108	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387923	0.82902	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.55	5.55	0.83447	.	0.065398	0.64402	D	0.000015	D	0.82618	0.5076	L	0.33339	1.005	0.38756	D	0.95421	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.99;0.983;0.998;0.986;0.983	D	0.85146	0.0983	10	0.54805	T	0.06	.	15.7093	0.77612	0.0:0.0:0.0:1.0	.	406;406;252;252;277	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	T	252;277;277;252;252;406;277	ENSP00000317421:K252T;ENSP00000348793:K277T;ENSP00000386834:K277T;ENSP00000387207:K252T	ENSP00000317421:K252T	K	-	2	0	AFF3	99989644	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	5.949000	0.70257	2.111000	0.64477	0.533000	0.62120	AAG		0.587	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	
CCDC108	255101	broad.mit.edu	37	2	219878733	219878733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:219878733delG	ENST00000341552.5	-	22	3719	c.3636delC	c.(3634-3636)gacfs	p.D1212fs	CCDC108_ENST00000453220.1_Frame_Shift_Del_p.D1212fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.D1212fs|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1212						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.D1212fs*11(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCTCCACGTCAATCCGCT	0.577																																					p.D1212fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.3636delC	2						.						47.0	50.0	49.0					2																	219878733		2203	4300	6503	219586977	SO:0001589	frameshift_variant	255101	exon22			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3636delC	2.37:g.219878733delG	ENSP00000340776:p.Asp1212fs		219586977	NM_194302	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	CCDS2430.2																																																																																				0.577	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
FARP2	9855	broad.mit.edu	37	2	242343251	242343251	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr2:242343251C>T	ENST00000264042.3	+	3	362	c.192C>T	c.(190-192)tgC>tgT	p.C64C	FARP2_ENST00000373287.4_Silent_p.C64C|FARP2_ENST00000545004.1_Silent_p.C64C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	64	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C64C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGCCTAAATGCGATGGCCAGG	0.413																																					p.C64C												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C192T	2						.						109.0	102.0	104.0					2																	242343251		2203	4300	6503	241991924	SO:0001819	synonymous_variant	9855	exon3			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.192C>T	2.37:g.242343251C>T			241991924	NM_014808	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	CCDS33424.1																																																																																				0.413	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1		
DCBLD2	131566	broad.mit.edu	37	3	98538056	98538056	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:98538056C>A	ENST00000326840.6	-	8	1439	c.1077G>T	c.(1075-1077)aaG>aaT	p.K359N	DCBLD2_ENST00000326857.9_Missense_Mutation_p.K359N	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	359	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.K359N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CTGTTATTTTCTTTTCCTTAT	0.333																																					p.K359N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1077T	3						.						30.0	26.0	27.0					3																	98538056		1792	4045	5837	100020746	SO:0001583	missense	131566	exon8				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1077G>T	3.37:g.98538056C>A	ENSP00000321573:p.Lys359Asn		100020746	NM_080927	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	ENST00000326840.6	37	CCDS46878.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672410	0.67928	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857	D;D	0.98437	-4.93;-4.93	5.25	5.25	0.73442	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.049309	0.85682	D	0.000000	D	0.98604	0.9533	M	0.78456	2.415	0.58432	D	0.999999	D;D	0.89917	0.989;1.0	P;D	0.87578	0.84;0.998	D	0.98523	1.0624	10	0.62326	D	0.03	-20.3023	10.199	0.43071	0.0:0.909:0.0:0.091	.	359;359	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	N	359;310;359	ENSP00000321573:K359N;ENSP00000321646:K359N	ENSP00000321573:K359N	K	-	3	2	DCBLD2	100020746	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.028000	0.41088	2.616000	0.88540	0.585000	0.79938	AAG		0.333	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927	
COL8A1	1295	broad.mit.edu	37	3	99509537	99509537	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:99509537T>G	ENST00000261037.3	+	4	391	c.11T>G	c.(10-12)cTg>cGg	p.L4R	COL8A1_ENST00000273342.4_Missense_Mutation_p.L4R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	4					angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)		p.L4R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGCTGTGCTGCCTGGCCCT	0.517																																					p.L4R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T11G	3						.						47.0	39.0	42.0					3																	99509537		2203	4300	6503	100992227	SO:0001583	missense	1295	exon3			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.11T>G	3.37:g.99509537T>G	ENSP00000261037:p.Leu4Arg		100992227	NM_020351	D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	T	6.271	0.418182	0.11870	.	.	ENSG00000144810	ENST00000261037;ENST00000452013;ENST00000273342	D;D	0.91631	-2.88;-2.88	5.5	0.642	0.17765	.	0.609592	0.17454	N	0.173683	D	0.82815	0.5119	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.22909	0.077;0.077	B;B	0.19391	0.025;0.017	T	0.66618	-0.5878	10	0.19590	T	0.45	.	8.692	0.34273	0.0:0.6006:0.0:0.3994	.	4;4	E7EPK9;P27658	.;CO8A1_HUMAN	R	4	ENSP00000261037:L4R;ENSP00000273342:L4R	ENSP00000261037:L4R	L	+	2	0	COL8A1	100992227	0.001000	0.12720	0.030000	0.17652	0.656000	0.38851	0.531000	0.23052	-0.175000	0.10725	-0.912000	0.02778	CTG		0.517	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850	
FANCD2	2177	broad.mit.edu	37	3	10133904	10133904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:10133904C>T	ENST00000419585.1	+	38	3978	c.3817C>T	c.(3817-3819)Cga>Tga	p.R1273*	FANCD2_ENST00000287647.3_Nonsense_Mutation_p.R1273*|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Nonsense_Mutation_p.R1273*|FANCD2_ENST00000383806.1_Silent_p.F1241F|FANCD2OS_ENST00000436517.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1273					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.R1273*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CATGGCTGTTCGAGACTTCAG	0.443			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.R1273X		yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3817T	3						.						183.0	184.0	184.0					3																	10133904		2203	4300	6503	10108904	SO:0001587	stop_gained	2177	exon38	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3817C>T	3.37:g.10133904C>T	ENSP00000398754:p.Arg1273*		10108904	NM_033084	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonsense_Mutation	SNP	ENST00000419585.1	37	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	C	43	9.854386	0.99280	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	.	.	.	5.57	2.59	0.31030	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.17	0.54152	0.578:0.422:0.0:0.0	.	.	.	.	X	1273	.	ENSP00000287647:R1273X	R	+	1	2	FANCD2	10108904	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.505000	0.35736	0.694000	0.31654	-0.276000	0.10085	CGA		0.443	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
FANCD2OS	115795	broad.mit.edu	37	3	10146216	10146216	+	Silent	SNP	C	C	T	rs143493769		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:10146216C>T	ENST00000450660.2	-	2	459	c.243G>A	c.(241-243)acG>acA	p.T81T	FANCD2OS_ENST00000524279.1_Silent_p.T81T	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	81								p.T81T(1)									TGTTGTTCATCGTGCGCAACT	0.532																																					p.T81T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G243A	3						.	C	,	1,4405	2.1+/-5.4	0,1,2202	124.0	115.0	118.0		243,243	-3.0	0.0	3	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C3orf24	NM_001164839.1,NM_173472.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	81/178,81/178	10146216	1,13005	2203	4300	6503	10121216	SO:0001819	synonymous_variant	115795	exon2			AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.243G>A	3.37:g.10146216C>T			10121216	NM_001164839		Silent	SNP	ENST00000450660.2	37	CCDS2596.1																																																																																				0.532	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339891.2	NM_173472	
FILIP1L	11259	broad.mit.edu	37	3	99569173	99569173	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:99569173T>G	ENST00000354552.3	-	5	1817	c.1347A>C	c.(1345-1347)gaA>gaC	p.E449D	FILIP1L_ENST00000487087.1_Missense_Mutation_p.E25D|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E209D|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E209D|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.E449D	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	449						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E449D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TCCTTTCTTTTTCTAAATTGC	0.368																																					p.E449D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1347C	3						.						115.0	109.0	111.0					3																	99569173		1835	4082	5917	101051863	SO:0001583	missense	11259	exon5				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1347A>C	3.37:g.99569173T>G	ENSP00000346560:p.Glu449Asp		101051863	NM_182909	B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286773	0.40494	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.43294	0.95;1.47;1.49;0.95;1.49;1.51	5.82	-1.81	0.07882	.	0.233542	0.29838	N	0.011071	T	0.28896	0.0717	L	0.48642	1.525	0.40682	D	0.982318	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.04386	-1.0955	10	0.59425	D	0.04	-1.0766	5.5491	0.17081	0.0:0.2288:0.2422:0.529	.	449;449	Q4L180-2;Q4L180	.;FIL1L_HUMAN	D	449;25;209;449;209;195;209	ENSP00000346560:E449D;ENSP00000417774:E25D;ENSP00000419642:E209D;ENSP00000327880:E449D;ENSP00000373192:E209D;ENSP00000419874:E209D	ENSP00000327880:E449D	E	-	3	2	FILIP1L	101051863	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	0.593000	0.23999	-0.198000	0.10333	-0.250000	0.11733	GAA		0.368	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890	
TBC1D23	55773	broad.mit.edu	37	3	100002609	100002609	+	Missense_Mutation	SNP	G	G	A	rs139728117		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:100002609G>A	ENST00000394144.4	+	4	437	c.430G>A	c.(430-432)Gat>Aat	p.D144N	TBC1D23_ENST00000344949.5_Missense_Mutation_p.D144N|TBC1D23_ENST00000475134.1_Intron|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	144	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.D144N(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						GCCACGCAGCGATTTATACAA	0.343																																					p.D144N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G430A	3						.	G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	108.0	102.0	104.0		430,430	6.0	1.0	3	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	TBC1D23	NM_001199198.1,NM_018309.3	23,23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	144/700,144/685	100002609	2,13004	2203	4300	6503	101485299	SO:0001583	missense	55773	exon4			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.430G>A	3.37:g.100002609G>A	ENSP00000377700:p.Asp144Asn		101485299	NM_001199198	B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	G	35	5.568077	0.96540	0.0	2.33E-4	ENSG00000036054	ENST00000485687;ENST00000344949;ENST00000394144;ENST00000471098	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	5.96	5.96	0.96718	Rab-GAP/TBC domain (3);	0.082955	0.85682	D	0.000000	T	0.21145	0.0509	M	0.81497	2.545	0.80722	D	1	D;D	0.61697	0.99;0.97	P;P	0.51550	0.673;0.544	T	0.00181	-1.1947	9	.	.	.	.	20.4057	0.99008	0.0:0.0:1.0:0.0	.	144;144	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	N	152;144;144;130	ENSP00000417487:D152N;ENSP00000340693:D144N;ENSP00000377700:D144N;ENSP00000418714:D130N	.	D	+	1	0	TBC1D23	101485299	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.166000	0.94766	2.829000	0.97493	0.591000	0.81541	GAT		0.343	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	
TMEM45A	55076	broad.mit.edu	37	3	100287728	100287728	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:100287728T>C	ENST00000323523.4	+	5	964	c.651T>C	c.(649-651)aaT>aaC	p.N217N	TMEM45A_ENST00000403410.1_Silent_p.N233N	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	217						integral component of membrane (GO:0016021)		p.N217N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						ATCATGAAAATATTTTGTTTC	0.363																																					p.N217N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T651C	3						.						234.0	227.0	229.0					3																	100287728		2203	4300	6503	101770418	SO:0001819	synonymous_variant	55076	exon5			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.651T>C	3.37:g.100287728T>C			101770418	NM_018004	Q53YW5	Silent	SNP	ENST00000323523.4	37	CCDS2937.1																																																																																				0.363	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004	
GPR128	84873	broad.mit.edu	37	3	100362473	100362473	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:100362473G>A	ENST00000273352.3	+	8	1210	c.942G>A	c.(940-942)acG>acA	p.T314T	GPR128_ENST00000475887.1_Intron|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	314					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T314T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTAATATGACGAAAAGTAAGT	0.343																																					p.T314T	Pancreas(87;185 1975 7223 18722)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G942A	3						.						70.0	67.0	68.0					3																	100362473		2203	4300	6503	101845163	SO:0001819	synonymous_variant	84873	exon8			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.942G>A	3.37:g.100362473G>A			101845163	NM_032787	Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	CCDS2938.1																																																																																				0.343	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
GPR128	84873	broad.mit.edu	37	3	100413668	100413668	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:100413668G>A	ENST00000273352.3	+	16	2485	c.2217G>A	c.(2215-2217)tcG>tcA	p.S739S	GPR128_ENST00000475887.1_Silent_p.S444S|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	739					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S739S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTTGCTATCGTCTATTGGGA	0.428																																					p.S739S	Pancreas(87;185 1975 7223 18722)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2217A	3						.						123.0	122.0	122.0					3																	100413668		2203	4300	6503	101896358	SO:0001819	synonymous_variant	84873	exon16			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2217G>A	3.37:g.100413668G>A			101896358	NM_032787	Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	37	CCDS2938.1																																																																																				0.428	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
ABI3BP	25890	broad.mit.edu	37	3	100494170	100494170	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:100494170G>A	ENST00000284322.5	-	27	2319	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	ABI3BP_ENST00000383691.4_Missense_Mutation_p.S691L|ABI3BP_ENST00000471714.1_Missense_Mutation_p.S1439L	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	737	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGGGCCTGATGAAATGATTCC	0.408																																					p.S737L												.	.	0			c.C2210T	3						.						64.0	65.0	65.0					3																	100494170		1844	4115	5959	101976860	SO:0001583	missense	25890	exon27			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2210C>T	3.37:g.100494170G>A	ENSP00000284322:p.Ser737Leu		101976860	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.40|10.40	1.339386|1.339386	0.24339|0.24339	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770	.|T;T;T	.|0.24350	.|2.2;1.93;1.86	5.0|5.0	3.87|3.87	0.44632|0.44632	.|.	.|0.000000	.|0.37669	.|N	.|0.001998	T|T	0.17408|0.17408	0.0418|0.0418	L|L	0.33485|0.33485	1.01|1.01	0.38296|0.38296	D|D	0.942832|0.942832	.|B;B;B;B	.|0.23540	.|0.087;0.011;0.084;0.022	.|B;B;B;B	.|0.28011	.|0.085;0.01;0.064;0.048	T|T	0.09143|0.09143	-1.0688|-1.0688	5|10	.|0.27785	.|T	.|0.31	-18.1187|-18.1187	6.2858|6.2858	0.21033|0.21033	0.1656:0.0:0.8344:0.0|0.1656:0.0:0.8344:0.0	.|.	.|691;737;1439;446	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	Y|L	793|1439;737;446;148;691;149	.|ENSP00000420524:S1439L;ENSP00000284322:S737L;ENSP00000373189:S691L	.|ENSP00000284322:S737L	H|S	-|-	1|2	0|0	ABI3BP|ABI3BP	101976860|101976860	0.993000|0.993000	0.37304|0.37304	0.998000|0.998000	0.56505|0.56505	0.133000|0.133000	0.20885|0.20885	1.096000|1.096000	0.30976|0.30976	2.489000|2.489000	0.83994|0.83994	0.313000|0.313000	0.20887|0.20887	CAT|TCA		0.408	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
ABI3BP	25890	broad.mit.edu	37	3	100497220	100497220	+	Splice_Site	SNP	C	C	A	rs377179948	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:100497220C>A	ENST00000284322.5	-	26	2217	c.2108G>T	c.(2107-2109)gGg>gTg	p.G703V	ABI3BP_ENST00000383691.4_Splice_Site_p.G657V|ABI3BP_ENST00000471714.1_Splice_Site_p.G1405V	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	703	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.G704V(1)|p.G657V(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCGGCGAGTCCCTGGGATTGT	0.393																																					p.G703V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2108T	3						.						91.0	90.0	90.0					3																	100497220		1862	4095	5957	101979910	SO:0001630	splice_region_variant	25890	exon26			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2108-1G>T	3.37:g.100497220C>A			101979910	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	CCDS46880.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	14.05|14.05|14.05	2.419789|2.419789|2.419789	0.42918|0.42918|0.42918	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000495591|ENST00000497395	T;T;T|.|.	0.24350|.|.	2.18;1.9;1.86|.|.	5.79|5.79|5.79	4.74|4.74|4.74	0.60224|0.60224|0.60224	.|.|.	0.848749|0.848749|.	0.10360|0.10360|.	N|N|.	0.684063|0.684063|.	T|.|T	0.60753|.|0.60753	0.2293|.|0.2293	L|L|L	0.45581|0.45581|0.45581	1.43|1.43|1.43	0.44268|0.44268|0.44268	D|D|D	0.997128|0.997128|0.997128	D;D;D;D|.|.	0.71674|.|.	0.987;0.992;0.998;0.992|.|.	P;P;P;P|.|.	0.62184|.|.	0.719;0.818;0.899;0.818|.|.	T|.|T	0.55768|.|0.55768	-0.8089|.|-0.8089	10|.|5	0.22109|0.22109|.	T|T|.	0.4|0.4|.	.|.|.	13.7129|13.7129|13.7129	0.62678|0.62678|0.62678	0.0:0.9149:0.0:0.0851|0.0:0.9149:0.0:0.0851|0.0:0.9149:0.0:0.0851	.|.|.	657;703;1405;412|.|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.|.	.;TARSH_HUMAN;.;.|.|.	V|X|S	1405;703;412;114;657;115|759|143	ENSP00000420524:G1405V;ENSP00000284322:G703V;ENSP00000373189:G657V|.|.	ENSP00000284322:G703V|ENSP00000418817:G759X|.	G|G|R	-|-|-	2|1|3	0|0|2	ABI3BP|ABI3BP|ABI3BP	101979910|101979910|101979910	0.939000|0.939000|0.939000	0.31865|0.31865|0.31865	0.972000|0.972000|0.972000	0.41901|0.41901|0.41901	0.659000|0.659000|0.659000	0.38960|0.38960|0.38960	1.971000|1.971000|1.971000	0.40530|0.40530|0.40530	2.745000|2.745000|2.745000	0.94114|0.94114|0.94114	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GGG|GGA|AGG		0.393	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		Missense_Mutation
ABI3BP	25890	broad.mit.edu	37	3	100581170	100581170	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:100581170G>A	ENST00000284322.5	-	12	1253	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	ABI3BP_ENST00000495063.1_Silent_p.L431L|ABI3BP_ENST00000471714.1_Silent_p.L431L	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	382					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.L382L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGAGGCTGCAGAACTTTGGAA	0.289																																					p.L382L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1144T	3						.						43.0	41.0	42.0					3																	100581170		1788	4065	5853	102063860	SO:0001819	synonymous_variant	25890	exon12			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1144C>T	3.37:g.100581170G>A			102063860	NM_015429	B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	G	0.264	-0.997565	0.02145	.	.	ENSG00000154175	ENST00000459682;ENST00000483129	.	.	.	4.96	3.16	0.36331	.	.	.	.	.	T	0.32971	0.0847	.	.	.	0.21553	N	0.999645	.	.	.	.	.	.	T	0.20075	-1.0286	4	.	.	.	-5.5024	6.7761	0.23621	0.1045:0.2219:0.6736:0.0	.	.	.	.	F	29;182	.	.	S	-	2	0	ABI3BP	102063860	0.061000	0.20836	0.102000	0.21198	0.300000	0.27592	0.730000	0.26043	0.597000	0.29811	0.484000	0.47621	TCT		0.289	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1		
IMPG2	50939	broad.mit.edu	37	3	100963548	100963548	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:100963548C>A	ENST00000193391.7	-	13	1814	c.1627G>T	c.(1627-1629)Gaa>Taa	p.E543*		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	543					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GGTATTGTTTCTTTTGGCACA	0.378																																					p.E543X												.	.	0			c.G1627T	3						.						111.0	100.0	104.0					3																	100963548		2203	4300	6503	102446238	SO:0001587	stop_gained	50939	exon13			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1627G>T	3.37:g.100963548C>A	ENSP00000193391:p.Glu543*		102446238	NM_016247	A8MWT5|Q9UKD4|Q9UKK5	Nonsense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	37	6.368793	0.97511	.	.	ENSG00000081148	ENST00000193391	.	.	.	4.93	4.03	0.46877	.	0.247012	0.34484	N	0.003934	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-3.4799	14.1677	0.65488	0.0:0.8496:0.1504:0.0	.	.	.	.	X	543	.	ENSP00000193391:E543X	E	-	1	0	IMPG2	102446238	1.000000	0.71417	0.969000	0.41365	0.863000	0.49368	2.895000	0.48648	1.348000	0.45733	0.655000	0.94253	GAA		0.378	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
TATDN2	9797	broad.mit.edu	37	3	10312640	10312640	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:10312640G>T	ENST00000287652.4	+	4	2825	c.1774G>T	c.(1774-1776)Gga>Tga	p.G592*	TATDN2_ENST00000448281.2_Nonsense_Mutation_p.G592*|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	592					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.G592*(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGTGGCATTTGGAGAAATGGG	0.453																																					p.G592X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1774T	3						.						106.0	114.0	111.0					3																	10312640		2203	4300	6503	10287640	SO:0001587	stop_gained	9797	exon4			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1774G>T	3.37:g.10312640G>T	ENSP00000287652:p.Gly592*		10287640	NM_014760	Q3MIL9|Q5BKU0	Nonsense_Mutation	SNP	ENST00000287652.4	37	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	39	7.890515	0.98545	.	.	ENSG00000157014	ENST00000287652;ENST00000448281;ENST00000426850	.	.	.	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.3473	16.2451	0.82437	0.0:0.0:1.0:0.0	.	.	.	.	X	592;592;13	.	ENSP00000287652:G592X	G	+	1	0	TATDN2	10287640	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.498000	0.90492	2.494000	0.84150	0.644000	0.83932	GGA		0.453	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
SENP7	57337	broad.mit.edu	37	3	101051652	101051652	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:101051652A>C	ENST00000394095.2	-	18	2588	c.2535T>G	c.(2533-2535)atT>atG	p.I845M	SENP7_ENST00000394091.1_Missense_Mutation_p.I681M|SENP7_ENST00000348610.3_Missense_Mutation_p.I812M|SENP7_ENST00000358203.3_Missense_Mutation_p.I681M|SENP7_ENST00000394094.2_Missense_Mutation_p.I780M|SENP7_ENST00000394085.3_Missense_Mutation_p.I33M|SENP7_ENST00000314261.7_Missense_Mutation_p.I779M	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	845	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.I779M(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTTATTAAAAATGTTTATGT	0.269																																					p.I845M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2535G	3						.						87.0	90.0	89.0					3																	101051652		2202	4276	6478	102534342	SO:0001583	missense	57337	exon18				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2535T>G	3.37:g.101051652A>C	ENSP00000377655:p.Ile845Met		102534342	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	A	17.09	3.299146	0.60195	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.18	1.59	0.23543	.	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.88450	2.955	0.46298	D	0.99897	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.999	D;D;D;D;D	0.91635	0.999;0.998;0.999;0.988;0.982	T	0.58713	-0.7588	10	0.87932	D	0	-6.9419	8.6484	0.34020	0.5184:0.0:0.4816:0.0	.	681;779;812;845;33	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	M	845;780;779;681;681;33;812	ENSP00000377655:I845M;ENSP00000377654:I780M;ENSP00000313624:I779M;ENSP00000377651:I681M;ENSP00000350936:I681M;ENSP00000377647:I33M;ENSP00000342159:I812M	ENSP00000313624:I779M	I	-	3	3	SENP7	102534342	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	0.213000	0.17521	0.416000	0.25844	0.402000	0.26972	ATT		0.269	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
NXPE3	91775	broad.mit.edu	37	3	101540681	101540681	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:101540681C>T	ENST00000491511.2	+	8	2519	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V	NXPE3_ENST00000273347.5_Silent_p.V521V|NXPE3_ENST00000422132.1_Silent_p.V521V|NXPE3_ENST00000477909.1_Silent_p.V521V|RP11-49I4.3_ENST00000490324.2_RNA	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	521						extracellular region (GO:0005576)		p.V521V(1)									TATATCTCGTCGATGCCTGGG	0.507																																					p.V521V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1563T	3						.						113.0	97.0	103.0					3																	101540681		2203	4300	6503	103023371	SO:0001819	synonymous_variant	91775	exon8			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1563C>T	3.37:g.101540681C>T			103023371	NM_001134456	A8K0X4|D3DN53|Q7Z2S8	Silent	SNP	ENST00000491511.2	37	CCDS2945.1																																																																																				0.507	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	
NFKBIZ	64332	broad.mit.edu	37	3	101571051	101571051	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:101571051G>A	ENST00000326172.5	+	2	527	c.412G>A	c.(412-414)Gct>Act	p.A138T	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A138T|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A38T	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	138					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A138T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TTCTGGCCAAGCTGTGGATGA	0.463																																					p.A38T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	3						.						154.0	159.0	157.0					3																	101571051		2203	4300	6503	103053741	SO:0001583	missense	64332	exon3			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.412G>A	3.37:g.101571051G>A	ENSP00000325663:p.Ala138Thr		103053741	NM_001005474	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	8.087	0.773766	0.16051	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;T;T	0.54279	0.62;0.58;0.59;0.64	5.45	1.98	0.26296	.	0.361089	0.26109	N	0.026290	T	0.29423	0.0733	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.10450	0.005;0.001	T	0.12863	-1.0531	9	.	.	.	-22.3998	8.079	0.30733	0.1115:0.2822:0.6063:0.0	.	138;138	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	T	38;38;138;138;38	ENSP00000419800:A38T;ENSP00000377618:A38T;ENSP00000325593:A138T;ENSP00000325663:A138T	.	A	+	1	0	NFKBIZ	103053741	0.000000	0.05858	0.882000	0.34594	0.636000	0.38137	-0.032000	0.12266	1.267000	0.44247	0.514000	0.50259	GCT		0.463	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419	
SLC6A11	6538	broad.mit.edu	37	3	10861174	10861174	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:10861174T>C	ENST00000254488.2	+	2	347	c.281T>C	c.(280-282)gTg>gCg	p.V94A	SLC6A11_ENST00000454147.1_Missense_Mutation_p.V94A	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	94					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V94A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CCCTACGTGGTGTTTTTTATT	0.438																																					p.V94A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T281C	3						.						211.0	203.0	206.0					3																	10861174		2203	4300	6503	10836174	SO:0001583	missense	6538	exon2			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.281T>C	3.37:g.10861174T>C	ENSP00000254488:p.Val94Ala		10836174	NM_014229	B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.626234	0.87560	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.76839	-1.05;-1.05	5.12	5.12	0.69794	.	0.057619	0.64402	D	0.000001	D	0.82879	0.5133	M	0.72576	2.205	0.51767	D	0.999936	B	0.28760	0.221	B	0.42959	0.403	D	0.83873	0.0275	10	0.87932	D	0	.	15.2296	0.73378	0.0:0.0:0.0:1.0	.	94	P48066	S6A11_HUMAN	A	94	ENSP00000254488:V94A;ENSP00000404120:V94A	ENSP00000254488:V94A	V	+	2	0	SLC6A11	10836174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.887000	0.87295	2.052000	0.61016	0.533000	0.62120	GTG		0.438	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229	
SLC6A11	6538	broad.mit.edu	37	3	10916740	10916740	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:10916740T>G	ENST00000254488.2	+	6	917	c.851T>G	c.(850-852)tTc>tGc	p.F284C		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	284				F -> L (in Ref. 2; BAG35593). {ECO:0000305}.	brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.F284C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GGCATCAAGTTCTACTTGTAC	0.577																																					p.F284C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T851G	3						.						150.0	133.0	139.0					3																	10916740		2203	4300	6503	10891740	SO:0001583	missense	6538	exon6			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.851T>G	3.37:g.10916740T>G	ENSP00000254488:p.Phe284Cys		10891740	NM_014229	B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492441	0.84962	.	.	ENSG00000132164	ENST00000254488	T	0.78003	-1.14	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.92361	0.7576	H	0.98155	4.16	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.95035	0.8173	10	0.87932	D	0	.	14.8238	0.70094	0.0:0.0:0.0:1.0	.	284	P48066	S6A11_HUMAN	C	284	ENSP00000254488:F284C	ENSP00000254488:F284C	F	+	2	0	SLC6A11	10891740	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.621000	0.83083	1.995000	0.58328	0.482000	0.46254	TTC		0.577	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229	
ZPLD1	131368	broad.mit.edu	37	3	102183077	102183077	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:102183077G>A	ENST00000491959.1	+	14	1625	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	ZPLD1_ENST00000306176.1_Missense_Mutation_p.R264Q|ZPLD1_ENST00000466937.1_Missense_Mutation_p.R248Q			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	248	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.R264Q(1)|p.R264P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GATGACATTCGATATGATCTT	0.323																																					p.R264Q												.	.	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)	c.G791A	3						.						190.0	185.0	187.0					3																	102183077		2203	4300	6503	103665767	SO:0001583	missense	131368	exon7			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.743G>A	3.37:g.102183077G>A	ENSP00000420265:p.Arg248Gln		103665767	NM_175056	Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	G	18.99	3.740727	0.69304	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82081	-1.57;-1.57;-1.57	5.6	5.6	0.85130	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.86748	0.6007	L	0.33137	0.985	0.80722	D	1	D;P	0.89917	1.0;0.863	D;B	0.83275	0.996;0.302	T	0.82999	-0.0178	10	0.20519	T	0.43	-3.4553	19.6097	0.95600	0.0:0.0:1.0:0.0	.	264;248	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	Q	248;264;248	ENSP00000420265:R248Q;ENSP00000307801:R264Q;ENSP00000418253:R248Q	ENSP00000307801:R264Q	R	+	2	0	ZPLD1	103665767	1.000000	0.71417	0.979000	0.43373	0.971000	0.66376	9.848000	0.99507	2.630000	0.89119	0.591000	0.81541	CGA		0.323	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	
BBX	56987	broad.mit.edu	37	3	107491685	107491685	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:107491685T>G	ENST00000325805.8	+	11	1404	c.1117T>G	c.(1117-1119)Ttt>Gtt	p.F373V	BBX_ENST00000406780.1_Missense_Mutation_p.F373V|BBX_ENST00000402543.1_Missense_Mutation_p.F373V|BBX_ENST00000415149.2_Missense_Mutation_p.F373V|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	373					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F373V(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ATTGAGAAATTTTGAGGCATT	0.308																																					p.F373V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1117G	3						.						57.0	67.0	64.0					3																	107491685		2203	4298	6501	108974375	SO:0001583	missense	56987	exon11			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1117T>G	3.37:g.107491685T>G	ENSP00000319974:p.Phe373Val		108974375	NM_001142568	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	T	2.147	-0.395396	0.04899	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000402163;ENST00000406780	D;D;D;D;D	0.98234	-4.32;-4.32;-4.33;-4.81;-4.32	6.16	-3.45	0.04781	.	0.947028	0.08993	N	0.864176	D	0.89884	0.6844	N	0.04508	-0.205	0.25269	N	0.98953	B;B;B	0.12013	0.0;0.0;0.005	B;B;B	0.09377	0.0;0.0;0.004	D	0.85652	0.1283	10	0.09843	T	0.71	-0.3185	2.622	0.04919	0.2294:0.0693:0.3358:0.3655	.	373;373;373	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	V	373;224;373;373;373;373	ENSP00000408358:F373V;ENSP00000385317:F373V;ENSP00000319974:F373V;ENSP00000385518:F373V;ENSP00000385530:F373V	ENSP00000319742:F224V	F	+	1	0	BBX	108974375	0.995000	0.38212	0.989000	0.46669	0.761000	0.43186	0.094000	0.15107	-0.081000	0.12662	0.528000	0.53228	TTT		0.308	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235	
IFT57	55081	broad.mit.edu	37	3	107925522	107925522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:107925522C>A	ENST00000264538.3	-	5	854	c.607G>T	c.(607-609)Gaa>Taa	p.E203*		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	203					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)	p.E203*(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ATAAAGTTTTCTTCATTATCT	0.279																																					p.E203X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G607T	3						.						102.0	96.0	98.0					3																	107925522		2202	4300	6502	109408212	SO:0001587	stop_gained	55081	exon5			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.607G>T	3.37:g.107925522C>A	ENSP00000264538:p.Glu203*		109408212	NM_018010	Q96DA9	Nonsense_Mutation	SNP	ENST00000264538.3	37	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	C	39	7.391014	0.98255	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.46	5.46	0.80206	.	0.200698	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.2646	0.93980	0.0:1.0:0.0:0.0	.	.	.	.	X	203	.	ENSP00000264538:E203X	E	-	1	0	IFT57	109408212	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.880000	0.63107	2.727000	0.93392	0.555000	0.69702	GAA		0.279	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010	
MYH15	22989	broad.mit.edu	37	3	108127244	108127244	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:108127244A>C	ENST00000273353.3	-	33	4619	c.4563T>G	c.(4561-4563)atT>atG	p.I1521M		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1521						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						TCAGATTAGAAATCTCTTCTG	0.413																																					p.I1521M												.	.	0			c.T4563G	3						.						122.0	110.0	114.0					3																	108127244		1850	4096	5946	109609934	SO:0001583	missense	22989	exon33			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.4563T>G	3.37:g.108127244A>C	ENSP00000273353:p.Ile1521Met		109609934	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632307	0.67015	.	.	ENSG00000144821	ENST00000273353	D	0.82081	-1.57	5.56	1.98	0.26296	Myosin tail (1);	.	.	.	.	D	0.91369	0.7277	M	0.90922	3.16	0.33888	D	0.636932	D	0.69078	0.997	D	0.76071	0.987	D	0.92787	0.6245	9	0.87932	D	0	.	9.6975	0.40167	0.8061:0.0:0.1939:0.0	.	1521	Q9Y2K3	MYH15_HUMAN	M	1521	ENSP00000273353:I1521M	ENSP00000273353:I1521M	I	-	3	3	MYH15	109609934	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.447000	0.35101	0.934000	0.37316	0.533000	0.62120	ATT		0.413	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
DZIP3	9666	broad.mit.edu	37	3	108363077	108363077	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:108363077C>T	ENST00000361582.3	+	14	1438	c.1208C>T	c.(1207-1209)tCt>tTt	p.S403F	DZIP3_ENST00000463306.1_Missense_Mutation_p.S403F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	403					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S403F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATTATTATTTCTGGTACTGAC	0.323																																					p.S403F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1208T	3						.						55.0	59.0	57.0					3																	108363077		2203	4298	6501	109845767	SO:0001583	missense	9666	exon14			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.1208C>T	3.37:g.108363077C>T	ENSP00000355028:p.Ser403Phe		109845767	NM_014648	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753090	0.49362	.	.	ENSG00000198919	ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.50001	0.76;0.76;0.76	4.6	2.74	0.32292	.	0.468824	0.18306	N	0.145258	T	0.33411	0.0862	N	0.08118	0	0.33272	D	0.561192	D;D	0.56968	0.965;0.978	P;P	0.52267	0.667;0.694	T	0.47100	-0.9143	10	0.72032	D	0.01	-9.0946	5.6486	0.17604	0.0:0.6909:0.2025:0.1066	.	403;403	C9J9M8;Q86Y13	.;DZIP3_HUMAN	F	403	ENSP00000355028:S403F;ENSP00000418115:S403F;ENSP00000419981:S403F	ENSP00000355028:S403F	S	+	2	0	DZIP3	109845767	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.660000	0.25009	1.246000	0.43901	0.655000	0.94253	TCT		0.323	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648	
PHLDB2	90102	broad.mit.edu	37	3	111688631	111688631	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:111688631A>G	ENST00000431670.2	+	16	3821	c.3410A>G	c.(3409-3411)tAc>tGc	p.Y1137C	PHLDB2_ENST00000393923.3_Missense_Mutation_p.Y1121C|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Y1137C|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Y1094C|PHLDB2_ENST00000481953.1_Missense_Mutation_p.Y1094C|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Y628C	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1137						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.Y1137C(1)|p.Y1094C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACACCTGTTACCATGTATCA	0.463																																					p.Y1137C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3410G	3						.						115.0	117.0	116.0					3																	111688631		2203	4300	6503	113171321	SO:0001583	missense	90102	exon16				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3410A>G	3.37:g.111688631A>G	ENSP00000405405:p.Tyr1137Cys		113171321	NM_001134439	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.510085	0.44660	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	5.06	2.54	0.30619	.	0.358687	0.30969	N	0.008501	T	0.75532	0.3862	L	0.47716	1.5	0.39823	D	0.972862	D;D;P;D;D	0.69078	0.997;0.979;0.902;0.992;0.992	P;P;P;P;P	0.61940	0.781;0.865;0.447;0.839;0.896	T	0.72484	-0.4279	10	0.46703	T	0.11	.	5.65	0.17610	0.5421:0.1499:0.0:0.308	.	249;628;1137;1094;1121	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	C	1121;1137;1094;1094;1137;1094;628	ENSP00000377500:Y1121C;ENSP00000405405:Y1137C;ENSP00000405292:Y1094C;ENSP00000418296:Y1094C;ENSP00000377502:Y1137C;ENSP00000418319:Y1094C;ENSP00000420303:Y628C	ENSP00000377500:Y1121C	Y	+	2	0	PHLDB2	113171321	0.994000	0.37717	0.849000	0.33467	0.578000	0.36192	1.776000	0.38594	0.344000	0.23847	0.477000	0.44152	TAC		0.463	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	
ABHD10	55347	broad.mit.edu	37	3	111705829	111705829	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:111705829C>T	ENST00000273359.3	+	4	534	c.507C>T	c.(505-507)gtC>gtT	p.V169V	ABHD10_ENST00000494817.1_Silent_p.V169V|ABHD10_ENST00000534857.1_Silent_p.V12V	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	169					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.V169V(1)		large_intestine(2)|lung(7)|skin(1)	10						CAGAGAAGGTCGTGGCTCTTA	0.403																																					p.V169V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	3						.						134.0	128.0	130.0					3																	111705829		2203	4300	6503	113188519	SO:0001819	synonymous_variant	55347	exon4			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.507C>T	3.37:g.111705829C>T			113188519	NM_018394	B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Silent	SNP	ENST00000273359.3	37	CCDS2963.1																																																																																				0.403	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394	
CCDC80	151887	broad.mit.edu	37	3	112357829	112357829	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:112357829G>A	ENST00000206423.3	-	2	1877	c.924C>T	c.(922-924)agC>agT	p.S308S	CCDC80_ENST00000439685.2_Silent_p.S308S|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	308					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.S308S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTTCTTCTCGCTGCCCAGGC	0.597																																					p.S308S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C924T	3						.						124.0	112.0	116.0					3																	112357829		2203	4300	6503	113840519	SO:0001819	synonymous_variant	151887	exon2			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.924C>T	3.37:g.112357829G>A			113840519	NM_199511	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	ENST00000206423.3	37	CCDS2968.1																																																																																				0.597	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
CFAP44	55779	broad.mit.edu	37	3	113138965	113138965	+	Missense_Mutation	SNP	C	C	T	rs370318076		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:113138965C>T	ENST00000295868.2	-	5	631	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.A157T	NM_018338.3	NP_060808.2												p.A157T(2)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATGTATATGGCGATACTGTCG	0.428																																					p.A157T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G469A	3						.	C	THR/ALA,THR/ALA	0,4406		0,0,2203	133.0	122.0	126.0		469,469	-8.0	0.0	3		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WDR52	NM_001164496.1,NM_018338.3	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	157/1855,157/983	113138965	1,13005	2203	4300	6503	114621655	SO:0001583	missense	55779	exon5																														ENST00000295868.2:c.469G>A	3.37:g.113138965C>T	ENSP00000295868:p.Ala157Thr		114621655	NM_001164496		Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314456	0.23908	0.0	1.16E-4	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.42513	5.04;0.97	5.44	-8.02	0.01118	.	.	.	.	.	T	0.15955	0.0384	L	0.29908	0.895	0.09310	N	1	P	0.36768	0.569	B	0.19148	0.024	T	0.16247	-1.0409	9	0.41790	T	0.15	.	0.1572	0.00099	0.2433:0.241:0.2158:0.2999	.	157	Q96MT7	WDR52_HUMAN	T	157	ENSP00000377428:A157T;ENSP00000295868:A157T	ENSP00000295868:A157T	A	-	1	0	WDR52	114621655	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.367000	0.02583	-0.990000	0.03481	-0.140000	0.14226	GCC		0.428	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		
KIAA2018	205717	broad.mit.edu	37	3	113375527	113375527	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:113375527A>C	ENST00000478658.1	-	5	5019	c.5002T>G	c.(5002-5004)Tat>Gat	p.Y1668D	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Y1668D			Q68DE3	K2018_HUMAN	KIAA2018	1668						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.Y1668D(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TCAGCAGAATAACTTGAAACT	0.433																																					p.Y1668D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5002G	3						.						142.0	134.0	136.0					3																	113375527		1881	4127	6008	114858217	SO:0001583	missense	205717	exon7			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5002T>G	3.37:g.113375527A>C	ENSP00000420721:p.Tyr1668Asp		114858217	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.164505	0.57476	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.39056	1.1;1.1	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.55130	0.1901	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58758	-0.7580	10	0.87932	D	0	-11.8092	15.9735	0.80040	1.0:0.0:0.0:0.0	.	1668	Q68DE3	K2018_HUMAN	D	1668	ENSP00000320794:Y1668D;ENSP00000420721:Y1668D	ENSP00000320794:Y1668D	Y	-	1	0	KIAA2018	114858217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.627000	0.90974	2.159000	0.67721	0.533000	0.62120	TAT		0.433	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
KIAA2018	205717	broad.mit.edu	37	3	113376165	113376165	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:113376165C>A	ENST00000478658.1	-	5	4381	c.4364G>T	c.(4363-4365)aGt>aTt	p.S1455I	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S1455I			Q68DE3	K2018_HUMAN	KIAA2018	1455	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S1455I(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGATGGTTACTATGAAGGTG	0.512																																					p.S1455I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4364T	3						.						86.0	89.0	88.0					3																	113376165		2190	4281	6471	114858855	SO:0001583	missense	205717	exon7			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4364G>T	3.37:g.113376165C>A	ENSP00000420721:p.Ser1455Ile		114858855	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756525	0.31137	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.36	3.39	0.38822	.	0.291814	0.40144	N	0.001177	T	0.10294	0.0252	N	0.14661	0.345	0.26295	N	0.978061	P	0.43477	0.808	B	0.39876	0.312	T	0.11108	-1.0601	10	0.72032	D	0.01	-12.3298	10.2402	0.43308	0.0:0.7429:0.1366:0.1205	.	1455	Q68DE3	K2018_HUMAN	I	1455	ENSP00000320794:S1455I;ENSP00000420721:S1455I	ENSP00000320794:S1455I	S	-	2	0	KIAA2018	114858855	0.979000	0.34478	0.995000	0.50966	0.949000	0.60115	1.758000	0.38410	1.458000	0.47871	0.561000	0.74099	AGT		0.512	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
ZNF80	7634	broad.mit.edu	37	3	113955568	113955568	+	Silent	SNP	C	C	T	rs144823946	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:113955568C>T	ENST00000482457.2	-	1	857	c.354G>A	c.(352-354)tcG>tcA	p.S118S	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S118S(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACAGGAGGTGCGACCTGCGGT	0.547																																					p.S118S	GBM(23;986 1114 21716)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G354A	3						.	C		2,4404	4.2+/-10.8	0,2,2201	62.0	57.0	59.0		354	-0.6	0.0	3	dbSNP_134	59	0,8600		0,0,4300	no	coding-synonymous	ZNF80	NM_007136.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		118/274	113955568	2,13004	2203	4300	6503	115438258	SO:0001819	synonymous_variant	7634	exon1			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.354G>A	3.37:g.113955568C>T			115438258	NM_007136	Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	CCDS2979.1																																																																																				0.547	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136	
ZNF80	7634	broad.mit.edu	37	3	113955908	113955909	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	CG	CG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:113955908_113955909CG>TA	ENST00000482457.2	-	1	516_517	c.13_14CG>TA	c.(13-15)CGc>TAc	p.R5Y	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R5>?(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CAACCCATCGCGTTTAGGGCTC	0.54																																					.	GBM(23;986 1114 21716)											.	.	1	Complex(1)	large_intestine(1)	c.13_14TA	3						.																																			115438599	SO:0001583	missense	7634	exon1			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.13_14delinsTA	3.37:g.113955908_113955909delinsTA	ENSP00000417192:p.Arg5Tyr		115438598	NM_007136	Q6NSW4|Q6NT14	Missense_Mutation	DNP	ENST00000482457.2	37	CCDS2979.1																																																																																				0.540	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136	
C3orf30	152405	broad.mit.edu	37	3	118865501	118865501	+	Missense_Mutation	SNP	G	G	T	rs537860632		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:118865501G>T	ENST00000295622.1	+	1	505	c.465G>T	c.(463-465)gaG>gaT	p.E155D	IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	155								p.E155D(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCCAGGCTGAGAGAAGAACTT	0.502																																					p.E155D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G465T	3						.						57.0	56.0	57.0					3																	118865501		2203	4300	6503	120348191	SO:0001583	missense	152405	exon1			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.465G>T	3.37:g.118865501G>T	ENSP00000295622:p.Glu155Asp		120348191	NM_152539	A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.152|9.152	1.016529|1.016529	0.19355|0.19355	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150	T|.	0.26660|.	1.72|.	3.44|3.44	-6.87|-6.87	0.01671|0.01671	.|.	2.335370|2.335370	0.01968|0.01968	N|N	0.043860|0.043860	T|.	0.30634|.	0.0771|.	N|N	0.21448|0.21448	0.665|0.665	0.09310|0.09310	N|N	1|1	B;B|.	0.30146|.	0.27;0.27|.	B;B|.	0.32533|.	0.059;0.147|.	T|.	0.28299|.	-1.0048|.	10|.	0.02654|0.36615	T|T	1|0.2	-7.3358|-7.3358	10.3222|10.3222	0.43773|0.43773	0.1327:0.2258:0.6416:0.0|0.1327:0.2258:0.6416:0.0	.|.	155;155|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	D|X	155|119	ENSP00000295622:E155D|.	ENSP00000295622:E155D|ENSP00000418207:E119X	E|E	+|+	3|1	2|0	C3orf30|C3orf30	120348191|120348191	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.023000|0.023000	0.10783|0.10783	-2.104000|-2.104000	0.01340|0.01340	-2.333000|-2.333000	0.00631|0.00631	-0.471000|-0.471000	0.05019|0.05019	GAG|GAG		0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539	
C3orf30	152405	broad.mit.edu	37	3	118866393	118866393	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:118866393A>G	ENST00000295622.1	+	1	1397	c.1357A>G	c.(1357-1359)Acc>Gcc	p.T453A	IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.T58A|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	453								p.T453A(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ATTGAACTATACCAGCAGTCA	0.448																																					p.T453A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1357G	3						.						62.0	65.0	64.0					3																	118866393		2203	4300	6503	120349083	SO:0001583	missense	152405	exon1			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.1357A>G	3.37:g.118866393A>G	ENSP00000295622:p.Thr453Ala		120349083	NM_152539	A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.219|3.219	-0.159845|-0.159845	0.06502|0.06502	.|.	.|.	ENSG00000163424;ENSG00000163424;ENSG00000251012|ENSG00000163424	ENST00000295622;ENST00000470341;ENST00000490594|ENST00000460150;ENST00000473121;ENST00000492792	T;T|T;T;T	0.44881|0.39592	2.76;0.91|1.58;1.11;1.07	4.39|4.39	-8.78|-8.78	0.00824|0.00824	.|.	1.852120|.	0.02709|.	N|.	0.112683|.	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.15930|.	0.0;0.015|.	B;B|.	0.16289|.	0.001;0.015|.	T|T	0.30592|0.30592	-0.9973|-0.9973	10|7	0.22109|0.54805	T|T	0.4|0.06	5.0731|5.0731	2.4753|2.4753	0.04575|0.04575	0.1491:0.3698:0.2881:0.193|0.1491:0.3698:0.2881:0.193	.|.	453;453|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	A|C	453;453;58|416;245;187	ENSP00000295622:T453A;ENSP00000424708:T58A|ENSP00000418207:Y416C;ENSP00000419675:Y245C;ENSP00000419083:Y187C	ENSP00000295622:T453A|ENSP00000418207:Y416C	T|Y	+|+	1|2	0|0	C3orf30;RP11-484M3.5|C3orf30	120349083|120349083	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.817000|-1.817000	0.01719|0.01719	-2.830000|-2.830000	0.00339|0.00339	-1.209000|-1.209000	0.01634|0.01634	ACC|TAC		0.448	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539	
GPR156	165829	broad.mit.edu	37	3	119886361	119886361	+	Nonsense_Mutation	SNP	G	G	A	rs553212940		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:119886361G>A	ENST00000464295.1	-	10	2408	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	GPR156_ENST00000461057.1_Nonsense_Mutation_p.R651*|GPR156_ENST00000315843.3_Nonsense_Mutation_p.R655*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	655						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.R655*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GAAGGTCTTCGTACTCTGGAA	0.577																																					p.R651X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1951T	3						.						58.0	57.0	58.0					3																	119886361		2203	4300	6503	121369051	SO:0001587	stop_gained	165829	exon9			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1963C>T	3.37:g.119886361G>A	ENSP00000417261:p.Arg655*		121369051	NM_001168271	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Nonsense_Mutation	SNP	ENST00000464295.1	37	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948706	0.92660	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	.	.	.	4.89	3.07	0.35406	.	0.842363	0.10512	N	0.665961	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4698	7.9507	0.30012	0.0:0.1908:0.6344:0.1748	.	.	.	.	X	655;655;651	.	.	R	-	1	2	GPR156	121369051	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.830000	0.27462	0.622000	0.30249	-0.309000	0.09137	CGA		0.577	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002	
TIMP4	7079	broad.mit.edu	37	3	12195855	12195855	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:12195855T>C	ENST00000287814.4	-	4	959	c.449A>G	c.(448-450)cAt>cGt	p.H150R	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	150	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.H150R(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						ATGGTAGTGATGATTCAGACT	0.488																																					p.H150R	Melanoma(199;1446 2144 30617 38794 51714)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A449G	3						.						239.0	205.0	217.0					3																	12195855		2203	4300	6503	12170855	SO:0001583	missense	7079	exon4			U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.449A>G	3.37:g.12195855T>C	ENSP00000287814:p.His150Arg		12170855	NM_003256	B2R7K6	Missense_Mutation	SNP	ENST00000287814.4	37	CCDS2608.1	.	.	.	.	.	.	.	.	.	.	T	14.44	2.536139	0.45176	.	.	ENSG00000157150	ENST00000287814	D	0.93076	-3.16	4.88	4.88	0.63580	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.122605	0.56097	D	0.000024	D	0.91002	0.7170	M	0.61703	1.905	0.38772	D	0.95456	P	0.36438	0.553	B	0.35727	0.209	D	0.90122	0.4200	10	0.18710	T	0.47	.	14.6706	0.68942	0.0:0.0:0.0:1.0	.	150	Q99727	TIMP4_HUMAN	R	150	ENSP00000287814:H150R	ENSP00000287814:H150R	H	-	2	0	TIMP4	12170855	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.569000	0.60865	2.052000	0.61016	0.402000	0.26972	CAT		0.488	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256	
LRRC58	116064	broad.mit.edu	37	3	120053952	120053952	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:120053952T>G	ENST00000295628.3	-	3	759	c.664A>C	c.(664-666)Aac>Cac	p.N222H		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	222								p.N222H(1)		large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		GTCAGCAAGTTATTGTGAAGA	0.338																																					p.N222H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A664C	3						.						96.0	89.0	91.0					3																	120053952		1871	4104	5975	121536642	SO:0001583	missense	116064	exon3			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.664A>C	3.37:g.120053952T>G	ENSP00000295628:p.Asn222His		121536642	NM_001099678		Missense_Mutation	SNP	ENST00000295628.3	37	CCDS46892.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385642	0.82792	.	.	ENSG00000163428	ENST00000295628	T	0.73469	-0.75	5.37	5.37	0.77165	.	0.043681	0.85682	D	0.000000	D	0.91526	0.7324	H	0.98951	4.38	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.94316	0.7549	10	0.87932	D	0	-13.8091	13.1142	0.59292	0.0:0.0:0.0:1.0	.	222	Q96CX6	LRC58_HUMAN	H	222	ENSP00000295628:N222H	ENSP00000295628:N222H	N	-	1	0	LRRC58	121536642	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.642000	0.83385	2.036000	0.60181	0.533000	0.62120	AAC		0.338	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355142.1	XM_057296	
GTF2E1	2960	broad.mit.edu	37	3	120469662	120469662	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:120469662G>A	ENST00000283875.5	+	2	356	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	88	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R88H(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAACCACTCGCCATAACTAC	0.393																																					p.R88H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	3						.						73.0	73.0	73.0					3																	120469662		2203	4300	6503	121952352	SO:0001583	missense	2960	exon2			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.263G>A	3.37:g.120469662G>A	ENSP00000283875:p.Arg88His		121952352	NM_005513	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708185	0.89018	.	.	ENSG00000153767	ENST00000283875;ENST00000492959	T	0.47177	0.85	6.06	5.18	0.71444	TFIIEalpha/SarR/Rpc3 HTH domain (1);Transcription factor TFE/TFIIEalpha HTH domain (1);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.67979	-0.5530	9	.	.	.	-1.4033	16.4847	0.84181	0.0:0.131:0.869:0.0	.	88;88	P29083;Q53F88	T2EA_HUMAN;.	H	88	ENSP00000283875:R88H	.	R	+	2	0	GTF2E1	121952352	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.845000	0.99498	1.546000	0.49388	0.655000	0.94253	CGC		0.393	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513	
GTF2E1	2960	broad.mit.edu	37	3	120469737	120469737	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:120469737G>T	ENST00000283875.5	+	2	431	c.338G>T	c.(337-339)aGa>aTa	p.R113I		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	113					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.R113I(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		ATGAGAAGAAGAATTGAGACC	0.413																																					p.R113I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G338T	3						.						81.0	82.0	81.0					3																	120469737		2203	4300	6503	121952427	SO:0001583	missense	2960	exon2			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.338G>T	3.37:g.120469737G>T	ENSP00000283875:p.Arg113Ile		121952427	NM_005513	Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990849	0.74703	.	.	ENSG00000153767	ENST00000283875;ENST00000492959	T	0.50277	0.75	6.06	6.06	0.98353	Zinc finger, RING/FYVE/PHD-type (1);TFIIEalpha/SarR/Rpc3 HTH domain (1);	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	L	0.50919	1.6	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.979	T	0.58177	-0.7682	9	.	.	.	-15.3071	19.609	0.95594	0.0:0.0:1.0:0.0	.	113;113	P29083;Q53F88	T2EA_HUMAN;.	I	113	ENSP00000283875:R113I	.	R	+	2	0	GTF2E1	121952427	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	8.062000	0.89475	2.882000	0.98803	0.655000	0.94253	AGA		0.413	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513	
STXBP5L	9515	broad.mit.edu	37	3	121134764	121134764	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:121134764C>T	ENST00000273666.6	+	26	3518	c.3247C>T	c.(3247-3249)Ctc>Ttc	p.L1083F	STXBP5L_ENST00000471454.1_Missense_Mutation_p.L1059F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1083					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1083F(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGAGGCTTTCTCAAGGGACT	0.383																																					p.L1083F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3247T	3						.						100.0	93.0	95.0					3																	121134764		1828	4088	5916	122617454	SO:0001583	missense	9515	exon26			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3247C>T	3.37:g.121134764C>T	ENSP00000273666:p.Leu1083Phe		122617454	NM_014980	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	4.421	0.077928	0.08485	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.22743	1.94;1.94;1.94	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.18257	0.0438	N	0.03253	-0.375	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.12293	-1.0553	10	0.02654	T	1	-7.2375	12.426	0.55546	0.0:0.9236:0.0:0.0764	.	1059;1083	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	F	1083;1059;1026	ENSP00000273666:L1083F;ENSP00000420019:L1059F;ENSP00000420167:L1026F	ENSP00000273666:L1083F	L	+	1	0	STXBP5L	122617454	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	1.674000	0.37544	2.506000	0.84524	0.563000	0.77884	CTC		0.383	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
FBXO40	51725	broad.mit.edu	37	3	121340972	121340972	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:121340972A>C	ENST00000338040.4	+	3	1110	c.696A>C	c.(694-696)acA>acC	p.T232T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	232					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T232T(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTGCTTTAACAAATTCATCAG	0.478																																					p.T232T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A696C	3						.						72.0	79.0	76.0					3																	121340972		2203	4300	6503	122823662	SO:0001819	synonymous_variant	51725	exon3			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.696A>C	3.37:g.121340972A>C			122823662	NM_016298	B2RAX7|Q32M70|Q9ULM5	Silent	SNP	ENST00000338040.4	37	CCDS33835.1																																																																																				0.478	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
HCLS1	3059	broad.mit.edu	37	3	121356006	121356006	+	Silent	SNP	G	G	A	rs368893881		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:121356006G>A	ENST00000314583.3	-	7	643	c.552C>T	c.(550-552)caC>caT	p.H184H	HCLS1_ENST00000428394.2_Intron|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	184					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.H184H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCTGGGACTCGTGTTTCTCCG	0.552																																					p.H184H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	3						.						160.0	137.0	145.0					3																	121356006		2203	4300	6503	122838696	SO:0001819	synonymous_variant	3059	exon7				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.552C>T	3.37:g.121356006G>A			122838696	NM_005335	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	CCDS3003.1																																																																																				0.552	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
GOLGB1	2804	broad.mit.edu	37	3	121388060	121388060	+	Splice_Site	SNP	G	G	A	rs150865762		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:121388060G>A	ENST00000340645.5	-	18	9430	c.9305C>T	c.(9304-9306)gCg>gTg	p.A3102V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A3107V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3102					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A3102V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTACTCACCGCCTGCAGCTC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		20307	0.0		0.001	False		,,,				2504	0.0				p.A3102V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9305T	3						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	109.0	108.0	108.0		9305	0.6	0.9	3	dbSNP_134	108	8,8592	7.1+/-27.0	0,8,4292	yes	missense-near-splice	GOLGB1	NM_004487.3	64	0,9,6494	AA,AG,GG		0.093,0.0227,0.0692	probably-damaging	3102/3260	121388060	9,12997	2203	4300	6503	122870750	SO:0001630	splice_region_variant	2804	exon18			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9306+1C>T	3.37:g.121388060G>A			122870750	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.87	2.066518	0.36470	2.27E-4	9.3E-4	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16743	2.41;2.32	5.63	0.6	0.17524	.	1.014780	0.07874	N	0.968335	T	0.21022	0.0506	N	0.24115	0.695	0.09310	N	0.999998	D;D;P	0.89917	0.998;1.0;0.891	P;D;B	0.80764	0.702;0.994;0.087	T	0.20638	-1.0269	10	0.30854	T	0.27	.	1.9272	0.03319	0.2312:0.1355:0.4939:0.1394	.	3107;3107;3102	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	V	3102;3107	ENSP00000341848:A3102V;ENSP00000377275:A3107V	ENSP00000341848:A3102V	A	-	2	0	GOLGB1	122870750	0.002000	0.14202	0.924000	0.36721	0.002000	0.02628	0.598000	0.24074	0.047000	0.15862	-1.292000	0.01352	GCG		0.458	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	Missense_Mutation
GOLGB1	2804	broad.mit.edu	37	3	121411070	121411070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:121411070C>A	ENST00000340645.5	-	14	7251	c.7126G>T	c.(7126-7128)Gaa>Taa	p.E2376*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.E2381*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2376					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E2376*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATATTTATTTCTTCATGCAGC	0.413																																					p.E2376X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G7126T	3						.						66.0	68.0	68.0					3																	121411070		2202	4300	6502	122893760	SO:0001587	stop_gained	2804	exon14			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7126G>T	3.37:g.121411070C>A	ENSP00000341848:p.Glu2376*		122893760	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	48	14.202437	0.99784	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	17.7661	0.88478	0.0:1.0:0.0:0.0	.	.	.	.	X	2376;2381	.	ENSP00000341848:E2376X	E	-	1	0	GOLGB1	122893760	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.916000	0.75776	2.793000	0.96121	0.563000	0.77884	GAA		0.413	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
GOLGB1	2804	broad.mit.edu	37	3	121413395	121413395	+	Missense_Mutation	SNP	C	C	T	rs111753163	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:121413395C>T	ENST00000340645.5	-	13	6085	c.5960G>A	c.(5959-5961)cGa>cAa	p.R1987Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R1992Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1987					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R1987Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATATTCCTTTCGTATTTCTGA	0.353													C|||	20	0.00399361	0.0151	0.0	5008	,	,		20840	0.0		0.0	False		,,,				2504	0.0				p.R1987Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5960A	3						.	C	GLN/ARG	42,4364	45.3+/-79.5	1,40,2162	165.0	175.0	172.0		5960	5.7	1.0	3	dbSNP_132	172	2,8598	2.2+/-6.3	0,2,4298	yes	missense	GOLGB1	NM_004487.3	43	1,42,6460	TT,TC,CC		0.0233,0.9532,0.3383	probably-damaging	1987/3260	121413395	44,12962	2203	4300	6503	122896085	SO:0001583	missense	2804	exon13			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5960G>A	3.37:g.121413395C>T	ENSP00000341848:p.Arg1987Gln		122896085	NM_004487	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	CCDS3004.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	14.09	2.430283	0.43122	0.009532	2.33E-4	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.13538	2.59;2.58	5.73	5.73	0.89815	.	0.000000	0.44902	D	0.000402	T	0.17874	0.0429	L	0.46741	1.465	0.29748	N	0.83654	D;D;P;P	0.89917	0.973;1.0;0.939;0.686	P;D;B;B	0.83275	0.535;0.996;0.406;0.268	T	0.03157	-1.1066	10	0.07644	T	0.81	.	10.7638	0.46281	0.0:0.9141:0.0:0.0859	.	1912;1992;1992;1987	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Q	1987;1992	ENSP00000341848:R1987Q;ENSP00000377275:R1992Q	ENSP00000341848:R1987Q	R	-	2	0	GOLGB1	122896085	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.119000	0.41958	2.688000	0.91661	0.650000	0.86243	CGA		0.353	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487	
PARP9	83666	broad.mit.edu	37	3	122259537	122259537	+	Missense_Mutation	SNP	A	A	C	rs143630586		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:122259537A>C	ENST00000360356.2	-	8	1879	c.1652T>G	c.(1651-1653)aTt>aGt	p.I551S	PARP9_ENST00000471785.1_Missense_Mutation_p.I516S|PARP9_ENST00000492382.1_Missense_Mutation_p.I96S|PARP9_ENST00000462315.1_Missense_Mutation_p.I516S|PARP9_ENST00000477522.2_Missense_Mutation_p.I516S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	551					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I551S(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAGGTACAGAATATGATTATT	0.428																																					p.I516S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1547G	3						.						147.0	144.0	145.0					3																	122259537		2203	4300	6503	123742227	SO:0001583	missense	83666	exon8			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1652T>G	3.37:g.122259537A>C	ENSP00000353512:p.Ile551Ser		123742227	NM_001146103	A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.434786	0.62955	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.37235	2.3;1.98;2.19;2.19;1.21	4.98	4.98	0.66077	.	0.000000	0.52532	D	0.000070	T	0.56775	0.2008	M	0.71581	2.175	0.50467	D	0.99987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.975;0.995;0.995	T	0.60826	-0.7186	10	0.87932	D	0	.	11.0072	0.47641	1.0:0.0:0.0:0.0	.	516;551;96;516	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	S	551;96;516;516;474;516	ENSP00000353512:I551S;ENSP00000417664:I96S;ENSP00000419506:I516S;ENSP00000419001:I516S;ENSP00000418894:I516S	ENSP00000353512:I551S	I	-	2	0	PARP9	123742227	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.491000	0.66887	2.097000	0.63578	0.528000	0.53228	ATT		0.428	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458	
PARP14	54625	broad.mit.edu	37	3	122437553	122437553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:122437553C>T	ENST00000474629.2	+	14	4821	c.4555C>T	c.(4555-4557)Cga>Tga	p.R1519*	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R1356*(1)|p.R1519*(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAAGAGAGTTCGATTGGCCAA	0.398																																					p.R1519X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C4555T	3						.						206.0	202.0	203.0					3																	122437553		1895	4135	6030	123920243	SO:0001587	stop_gained	54625	exon14			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4555C>T	3.37:g.122437553C>T	ENSP00000418194:p.Arg1519*		123920243	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Nonsense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	38	6.995724	0.97990	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	.	.	.	5.05	-2.24	0.06909	.	0.173169	0.39834	N	0.001243	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5766	0.45231	0.4345:0.4929:0.0726:0.0	.	.	.	.	X	1519;1438;122;515	.	ENSP00000310633:R122X	R	+	1	2	PARP14	123920243	0.000000	0.05858	0.014000	0.15608	0.352000	0.29268	0.409000	0.21082	-0.182000	0.10602	-0.181000	0.13052	CGA		0.398	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
HSPBAP1	79663	broad.mit.edu	37	3	122487556	122487556	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:122487556G>T	ENST00000306103.2	-	3	567	c.424C>A	c.(424-426)Ctt>Att	p.L142I	HSPBAP1_ENST00000383659.1_Missense_Mutation_p.L142I|HSPBAP1_ENST00000465044.1_5'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	142	Interaction with HSPB1. {ECO:0000250}.|JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)		p.L142I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		ACCTGGAAAAGATCTGTCTTG	0.368																																					p.L142I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424A	3						.						46.0	46.0	46.0					3																	122487556		2203	4300	6503	123970246	SO:0001583	missense	79663	exon3			AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.424C>A	3.37:g.122487556G>T	ENSP00000302562:p.Leu142Ile		123970246	NM_024610	Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	g	0.113	-1.136177	0.01742	.	.	ENSG00000169087	ENST00000383659;ENST00000306103	T;T	0.22539	1.95;1.95	5.22	-5.5	0.02576	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.346769	0.33980	N	0.004373	T	0.09512	0.0234	N	0.21448	0.665	0.09310	N	0.999999	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.32877	-0.9890	10	0.15499	T	0.54	.	10.1206	0.42618	0.0:0.5684:0.0991:0.3325	.	142;142	Q96EW2-2;Q96EW2	.;HBAP1_HUMAN	I	142	ENSP00000373155:L142I;ENSP00000302562:L142I	ENSP00000302562:L142I	L	-	1	0	HSPBAP1	123970246	0.108000	0.22018	0.952000	0.39060	0.462000	0.32619	-0.691000	0.05133	-0.909000	0.03852	-1.006000	0.02489	CTT		0.368	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610	
PDIA5	10954	broad.mit.edu	37	3	122835134	122835134	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:122835134C>T	ENST00000316218.7	+	8	693	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	200	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)	p.R200*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GACTCAGCTGCGAGGCCACGC	0.622																																					p.R200X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C598T	3						.						86.0	74.0	78.0					3																	122835134		2203	4300	6503	124317824	SO:0001587	stop_gained	10954	exon8			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.598C>T	3.37:g.122835134C>T	ENSP00000323313:p.Arg200*		124317824	NM_006810	D3DN95|Q9BV43	Nonsense_Mutation	SNP	ENST00000316218.7	37	CCDS3020.1	.	.	.	.	.	.	.	.	.	.	C	37	6.008114	0.97195	.	.	ENSG00000065485	ENST00000316218	.	.	.	5.65	4.71	0.59529	.	0.123621	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.207	0.48775	0.2377:0.7623:0.0:0.0	.	.	.	.	X	200	.	ENSP00000323313:R200X	R	+	1	2	PDIA5	124317824	0.999000	0.42202	0.978000	0.43139	0.655000	0.38815	4.583000	0.60964	2.941000	0.99782	0.655000	0.94253	CGA		0.622	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810	
CCDC14	64770	broad.mit.edu	37	3	123649953	123649953	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:123649953T>C	ENST00000488653.2	-	12	2008	c.1918A>G	c.(1918-1920)Acc>Gcc	p.T640A	CCDC14_ENST00000433542.2_Missense_Mutation_p.T599A|CCDC14_ENST00000310351.4_Missense_Mutation_p.T480A|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000485727.1_Missense_Mutation_p.T440A|CCDC14_ENST00000489746.1_Missense_Mutation_p.T440A			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	640					substantia nigra development (GO:0021762)	centrosome (GO:0005813)		p.T480A(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTTTACCTGGTTAATTCTCTT	0.348																																					p.T599A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1795G	3						.						87.0	90.0	89.0					3																	123649953		2203	4300	6503	125132643	SO:0001583	missense	64770	exon11			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1918A>G	3.37:g.123649953T>C	ENSP00000420180:p.Thr640Ala		125132643	NM_022757	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37		.	.	.	.	.	.	.	.	.	.	T	18.33	3.601157	0.66332	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.32	4.15	0.48705	.	0.165679	0.43260	D	0.000600	T	0.69522	0.3120	M	0.61703	1.905	0.34872	D	0.743662	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	P;P;P;P	0.57152	0.814;0.814;0.814;0.814	T	0.76788	-0.2830	10	0.40728	T	0.16	.	11.3854	0.49782	0.0:0.0:0.1512:0.8488	.	640;599;440;481	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5	CCD14_HUMAN;.;.;.	A	640;480;440;440;599;621;281	ENSP00000420180:T640A;ENSP00000312031:T480A;ENSP00000418002:T440A;ENSP00000418403:T440A;ENSP00000395706:T599A;ENSP00000386866:T621A;ENSP00000400957:T281A	ENSP00000312031:T480A	T	-	1	0	CCDC14	125132643	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.659000	0.68010	1.023000	0.39654	0.533000	0.62120	ACC		0.348	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757	
KALRN	8997	broad.mit.edu	37	3	124103814	124103814	+	Silent	SNP	C	C	T	rs566946896		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:124103814C>T	ENST00000240874.3	+	11	2044	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	KALRN_ENST00000460856.1_Silent_p.F629F|KALRN_ENST00000360013.3_Silent_p.F629F	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	629					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F629F(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCAAGACTTCGTGCGCAGGG	0.572																																					p.F629F												.	.	4	Substitution - coding silent(4)	large_intestine(2)|endometrium(2)	c.C1887T	3						.						102.0	85.0	91.0					3																	124103814		2203	4300	6503	125586504	SO:0001819	synonymous_variant	8997	exon11			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1887C>T	3.37:g.124103814C>T			125586504	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000240874.3	37	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.552444	0.27739	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.22	-3.25	0.05079	.	.	.	.	.	T	0.65015	0.2651	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64626	-0.6363	4	.	.	.	.	14.8818	0.70540	0.0:0.3381:0.0:0.6619	.	.	.	.	L	607	.	.	S	+	2	0	KALRN	125586504	0.138000	0.22547	0.976000	0.42696	0.998000	0.95712	-0.587000	0.05780	-0.569000	0.06030	0.563000	0.77884	TCG		0.572	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
KALRN	8997	broad.mit.edu	37	3	124175467	124175467	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:124175467A>G	ENST00000240874.3	+	23	3897	c.3740A>G	c.(3739-3741)gAc>gGc	p.D1247G	KALRN_ENST00000460856.1_Missense_Mutation_p.D1238G|KALRN_ENST00000360013.3_Missense_Mutation_p.D1247G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1247					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1247G(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATAATAAGGACCTGGAGCTG	0.522																																					p.D1247G												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3740G	3						.						87.0	91.0	90.0					3																	124175467		2203	4300	6503	125658157	SO:0001583	missense	8997	exon23			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3740A>G	3.37:g.124175467A>G	ENSP00000240874:p.Asp1247Gly		125658157	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.66|16.66	3.184856|3.184856	0.57909|0.57909	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.61158|.	0.73;0.65;0.13|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69378|0.69378	0.3104|0.3104	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;B;D;P|.	0.61080|.	0.761;0.021;0.989;0.846|.	B;B;P;P|.	0.54856|.	0.265;0.019;0.762;0.452|.	T|T	0.68712|0.68712	-0.5336|-0.5336	10|5	0.17369|.	T|.	0.5|.	.|.	14.6459|14.6459	0.68759|0.68759	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1238;593;1247;1247|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	G|A	1238;1247;1247|1216	ENSP00000418611:D1238G;ENSP00000240874:D1247G;ENSP00000353109:D1247G|.	ENSP00000240874:D1247G|.	D|T	+|+	2|1	0|0	KALRN|KALRN	125658157|125658157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	6.132000|6.132000	0.71676|0.71676	2.046000|2.046000	0.60703|0.60703	0.477000|0.477000	0.44152|0.44152	GAC|ACC		0.522	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
KALRN	8997	broad.mit.edu	37	3	124438050	124438050	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:124438050C>T	ENST00000291478.5	+	27	3766	c.3603C>T	c.(3601-3603)agC>agT	p.S1201S	KALRN_ENST00000360013.3_Silent_p.S2898S|KALRN_ENST00000428018.2_Silent_p.S1169S	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2897					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S2898S(1)|p.S1201S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGATTTCAGCTTCCCCCATG	0.502																																					p.S2898S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C8694T	3						.						88.0	82.0	84.0					3																	124438050		2203	4300	6503	125920740	SO:0001819	synonymous_variant	8997	exon60			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3603C>T	3.37:g.124438050C>T			125920740	NM_001024660	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	5.874	0.345468	0.11126	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.52	2.56	0.30785	.	.	.	.	.	T	0.58764	0.2145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54316	-0.8312	4	.	.	.	.	9.3738	0.38270	0.0:0.694:0.0:0.306	.	.	.	.	V	2867	.	.	A	+	2	0	KALRN	125920740	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.272000	0.33109	0.884000	0.36064	0.563000	0.77884	GCT		0.502	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
MUC13	56667	broad.mit.edu	37	3	124632520	124632520	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:124632520G>A	ENST00000311075.3	-	7	1008	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	325	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)	p.R324W(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAATCACACCGAAGGGTCACT	0.423																																					p.R324W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C970T	3						.						72.0	68.0	69.0					3																	124632520		2203	4300	6503	126115210	SO:0001583	missense	56667	exon7			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.970C>T	3.37:g.124632520G>A	ENSP00000312235:p.Arg324Trp		126115210	NM_033049	Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37		.	.	.	.	.	.	.	.	.	.	G	11.76	1.733931	0.30684	.	.	ENSG00000173702	ENST00000311075	D	0.87491	-2.26	3.93	-4.04	0.04010	.	3.072470	0.01105	N	0.005470	D	0.89329	0.6684	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.71184	0.972	T	0.79112	-0.1937	10	0.66056	D	0.02	0.2081	4.6867	0.12760	0.4045:0.0:0.3619:0.2336	.	324	Q9H3R2	MUC13_HUMAN	W	324	ENSP00000312235:R324W	ENSP00000312235:R324W	R	-	1	2	MUC13	126115210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.076000	0.11412	-1.421000	0.02007	-2.157000	0.00329	CGG		0.423	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049	
RAF1	5894	broad.mit.edu	37	3	12650290	12650290	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:12650290C>T	ENST00000251849.4	-	5	995	c.556G>A	c.(556-558)Gac>Aac	p.D186N	RAF1_ENST00000542177.1_Missense_Mutation_p.D105N|RAF1_ENST00000534997.1_Missense_Mutation_p.D4N|RAF1_ENST00000442415.2_Missense_Mutation_p.D186N	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	186					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D186N(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTACTCCAGTCCACACACATA	0.393			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																												p.D186N			Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	3						.						165.0	152.0	157.0					3																	12650290		2203	4300	6503	12625290	SO:0001583	missense	5894	exon5	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.556G>A	3.37:g.12650290C>T	ENSP00000251849:p.Asp186Asn		12625290	NM_002880	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664523	0.67700	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	T;T;T;T;T	0.75477	-0.83;-0.84;-0.85;-0.94;-0.81	5.52	5.52	0.82312	.	0.095395	0.64402	D	0.000001	T	0.78188	0.4244	N	0.21448	0.665	0.80722	D	1	B;D;P	0.63880	0.215;0.993;0.742	B;D;B	0.74674	0.192;0.984;0.361	T	0.74097	-0.3775	10	0.21540	T	0.41	.	19.4517	0.94871	0.0:1.0:0.0:0.0	.	105;4;186	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	N	186;186;98;4;105	ENSP00000251849:D186N;ENSP00000401888:D186N;ENSP00000398591:D98N;ENSP00000441186:D4N;ENSP00000443567:D105N	ENSP00000251849:D186N	D	-	1	0	RAF1	12625290	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.685000	0.61693	2.609000	0.88269	0.563000	0.77884	GAC		0.393	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	
HEG1	57493	broad.mit.edu	37	3	124732586	124732586	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:124732586A>C	ENST00000311127.4	-	6	1904	c.1837T>G	c.(1837-1839)Tcc>Gcc	p.S613A	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	613	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S613A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CCGTCATAGGATGAGATGTTA	0.428																																					p.S613A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1837G	3						.						105.0	107.0	106.0					3																	124732586		2087	4214	6301	126215276	SO:0001583	missense	57493	exon6			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1837T>G	3.37:g.124732586A>C	ENSP00000311502:p.Ser613Ala		126215276	NM_020733	Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794620	0.90453	.	.	ENSG00000173706	ENST00000311127	D	0.90133	-2.62	5.54	4.4	0.53042	.	0.000000	0.37809	U	0.001933	D	0.92014	0.7470	M	0.66939	2.045	0.09310	N	1	D;D	0.59767	0.986;0.976	P;P	0.55391	0.775;0.6	D	0.85814	0.1381	10	0.87932	D	0	.	9.2262	0.37407	0.9197:0.0:0.0803:0.0	.	613;613	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	A	613	ENSP00000311502:S613A	ENSP00000311502:S613A	S	-	1	0	HEG1	126215276	0.951000	0.32395	0.210000	0.23637	0.953000	0.61014	2.389000	0.44407	1.128000	0.42052	0.533000	0.62120	TCC		0.428	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
OSBPL11	114885	broad.mit.edu	37	3	125286396	125286396	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:125286396C>T	ENST00000296220.5	-	6	999	c.710G>A	c.(709-711)cGa>cAa	p.R237Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	237					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.R237Q(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GCATTCAATTCGTCTAATTAA	0.393																																					p.R237Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G710A	3						.						191.0	168.0	176.0					3																	125286396		2203	4300	6503	126769086	SO:0001583	missense	114885	exon6			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.710G>A	3.37:g.125286396C>T	ENSP00000296220:p.Arg237Gln		126769086	NM_022776	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.531032	0.45073	.	.	ENSG00000144909	ENST00000296220	T	0.41065	1.01	4.68	4.68	0.58851	.	0.344948	0.26542	N	0.023785	T	0.24736	0.0600	N	0.22421	0.69	0.41624	D	0.98898	P	0.41643	0.758	B	0.24394	0.053	T	0.10823	-1.0613	10	0.24483	T	0.36	-0.0013	17.814	0.88625	0.0:1.0:0.0:0.0	.	237	Q9BXB4	OSB11_HUMAN	Q	237	ENSP00000296220:R237Q	ENSP00000296220:R237Q	R	-	2	0	OSBPL11	126769086	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	3.415000	0.52700	2.415000	0.81967	0.655000	0.94253	CGA		0.393	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	
CAND2	23066	broad.mit.edu	37	3	12857408	12857408	+	Missense_Mutation	SNP	C	C	T	rs201739910		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:12857408C>T	ENST00000456430.2	+	9	1383	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	CAND2_ENST00000295989.5_Missense_Mutation_p.R355W	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	448					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.R355W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCTTAAAGATCGGAGCGTCAG	0.637																																					p.R448W	GBM(43;676 868 1633 6395 37496)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1342T	3						.	C	TRP/ARG,TRP/ARG	3,4019		0,3,2008	42.0	48.0	46.0		1342,1063	2.1	0.8	3		46	0,8364		0,0,4182	no	missense,missense	CAND2	NM_001162499.1,NM_012298.2	101,101	0,3,6190	TT,TC,CC		0.0,0.0746,0.0242	probably-damaging,probably-damaging	448/1237,355/1120	12857408	3,12383	2011	4182	6193	12832408	SO:0001583	missense	23066	exon9				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1342C>T	3.37:g.12857408C>T	ENSP00000387641:p.Arg448Trp		12832408	NM_001162499	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410356	0.62399	7.46E-4	0.0	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.65549	-0.16;-0.16	5.12	2.07	0.26955	Armadillo-like helical (1);Armadillo-type fold (1);	0.069576	0.52532	D	0.000067	T	0.64940	0.2644	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.66196	0.821;0.942	T	0.66337	-0.5949	10	0.87932	D	0	-20.7002	11.5422	0.50673	0.6073:0.3927:0.0:0.0	.	448;355	O75155;O75155-2	CAND2_HUMAN;.	W	355;448	ENSP00000295989:R355W;ENSP00000387641:R448W	ENSP00000295989:R355W	R	+	1	2	CAND2	12832408	1.000000	0.71417	0.848000	0.33437	0.953000	0.61014	4.461000	0.60115	0.517000	0.28361	-0.314000	0.08810	CGG		0.637	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617	
TXNRD3NB	645840	broad.mit.edu	37	3	126291351	126291351	+	Silent	SNP	C	C	T	rs372216142		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:126291351C>T	ENST00000404489.2	-	1	128	c.36G>A	c.(34-36)ccG>ccA	p.P12P	TXNRD3NB_ENST00000383572.2_Silent_p.P12P			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	12										endometrium(1)|large_intestine(2)|skin(2)	5						CTTTCAGCTCCGGCTGCCCAA	0.612																																					p.P12P												.	.	0			c.G36A	3						.	C		1,4405	2.1+/-5.4	0,1,2202	39.0	36.0	37.0		36	-1.3	0.2	3		37	0,8600		0,0,4300	no	coding-synonymous	TXNRD3NB	NM_001039783.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		12/134	126291351	1,13005	2203	4300	6503	127774041	SO:0001819	synonymous_variant	645840	exon3			BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.36G>A	3.37:g.126291351C>T			127774041	NM_001039783		Silent	SNP	ENST00000404489.2	37	CCDS33846.1																																																																																				0.612	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783	
MCM2	4171	broad.mit.edu	37	3	127325561	127325561	+	Silent	SNP	C	C	T	rs376347464		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:127325561C>T	ENST00000265056.7	+	6	1246	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	334					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.F334F(1)		ovary(3)|skin(2)|stomach(1)	6						AGTGCAATTTCGTCCTGGGTC	0.592																																					p.F334F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1002T	3						.						107.0	103.0	105.0					3																	127325561		2203	4300	6503	128808251	SO:0001819	synonymous_variant	4171	exon6			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1002C>T	3.37:g.127325561C>T			128808251	NM_004526	Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531255	0.13127	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.0	-6.46	0.01908	.	.	.	.	.	T	0.66096	0.2755	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68907	-0.5285	4	.	.	.	-21.3738	18.2057	0.89853	0.0:0.8238:0.0:0.1762	.	.	.	.	L	197	.	.	S	+	2	0	MCM2	128808251	0.985000	0.35326	0.023000	0.16930	0.671000	0.39405	0.306000	0.19279	-1.293000	0.02362	-0.469000	0.05056	TCG		0.592	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1		
RUVBL1	8607	broad.mit.edu	37	3	127800173	127800173	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:127800173C>T	ENST00000322623.5	-	11	1390	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	RUVBL1_ENST00000464873.1_Intron|RUVBL1-AS1_ENST00000485218.1_RNA|RUVBL1_ENST00000480616.1_5'Flank|RUVBL1_ENST00000417360.1_3'UTR	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	431					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.E431K(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGATCTCTTCGACATGCTCT	0.507																																					p.E431K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1291A	3						.						169.0	151.0	157.0					3																	127800173		2203	4300	6503	129282863	SO:0001583	missense	8607	exon11			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1291G>A	3.37:g.127800173C>T	ENSP00000318297:p.Glu431Lys		129282863	NM_003707	B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483417	0.44147	.	.	ENSG00000175792	ENST00000322623;ENST00000478892	T	0.62941	-0.01	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	L	0.59967	1.855	0.80722	D	1	B	0.15141	0.012	B	0.06405	0.002	T	0.57075	-0.7873	10	0.08179	T	0.78	-33.4611	18.8651	0.92289	0.0:1.0:0.0:0.0	.	431	Q9Y265	RUVB1_HUMAN	K	431;242	ENSP00000318297:E431K	ENSP00000318297:E431K	E	-	1	0	RUVBL1	129282863	1.000000	0.71417	0.904000	0.35570	0.513000	0.34164	5.799000	0.69101	2.445000	0.82738	0.591000	0.81541	GAA		0.507	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2		
EEFSEC	60678	broad.mit.edu	37	3	127965857	127965857	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:127965857G>T	ENST00000254730.6	+	2	549	c.495G>T	c.(493-495)aaG>aaT	p.K165N	EEFSEC_ENST00000483457.1_Missense_Mutation_p.K165N	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	165	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)	p.K165N(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AAATGACCAAGAAAATGCAGA	0.463																																					p.K165N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G495T	3						.						127.0	130.0	129.0					3																	127965857		2203	4300	6503	129448547	SO:0001583	missense	60678	exon2				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.495G>T	3.37:g.127965857G>T	ENSP00000254730:p.Lys165Asn		129448547	NM_021937	Q96HZ6	Missense_Mutation	SNP	ENST00000254730.6	37	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450683	0.43531	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.71461	-0.57;-0.57	4.95	4.07	0.47477	Protein synthesis factor, GTP-binding (1);	0.048832	0.85682	D	0.000000	T	0.74635	0.3742	M	0.66439	2.03	0.54753	D	0.99998	B;B	0.27380	0.057;0.177	B;B	0.41666	0.068;0.363	T	0.72456	-0.4288	10	0.40728	T	0.16	8.7463	12.9977	0.58657	0.0779:0.0:0.9221:0.0	.	165;165	C9J8T0;P57772	.;SELB_HUMAN	N	165	ENSP00000254730:K165N;ENSP00000417660:K165N	ENSP00000254730:K165N	K	+	3	2	EEFSEC	129448547	1.000000	0.71417	0.991000	0.47740	0.929000	0.56500	4.647000	0.61418	1.080000	0.41073	0.313000	0.20887	AAG		0.463	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937	
DNAJB8	165721	broad.mit.edu	37	3	128181827	128181827	+	Missense_Mutation	SNP	C	C	T	rs138090733		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:128181827C>T	ENST00000469083.1	-	2	2819	c.262G>A	c.(262-264)Gac>Aac	p.D88N	DNAJB8_ENST00000319153.3_Missense_Mutation_p.D88N|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	88					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TAGCCGGTGTCGAAGGGGCTG	0.592																																					p.D88N												.	.	0			c.G262A	3						.	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	70.0	74.0	73.0		262	2.2	0.0	3	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	yes	missense	DNAJB8	NM_153330.2	23	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	88/233	128181827	3,13003	2203	4300	6503	129664517	SO:0001583	missense	165721	exon3				CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.262G>A	3.37:g.128181827C>T	ENSP00000417418:p.Asp88Asn		129664517	NM_153330	B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	C	5.314	0.243316	0.10077	2.27E-4	2.33E-4	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.73469	-0.75;-0.75	4.12	2.25	0.28309	Heat shock protein DnaJ, N-terminal (1);	0.991235	0.08199	N	0.982569	T	0.52948	0.1766	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.35549	-0.9784	10	0.20046	T	0.44	.	8.9616	0.35851	0.1486:0.7662:0.0:0.0852	.	88	Q8NHS0	DNJB8_HUMAN	N	88	ENSP00000417418:D88N;ENSP00000316053:D88N	ENSP00000316053:D88N	D	-	1	0	DNAJB8	129664517	0.000000	0.05858	0.041000	0.18516	0.007000	0.05969	0.981000	0.29526	0.838000	0.34948	-0.268000	0.10319	GAC		0.592	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330	
ISY1	57461	broad.mit.edu	37	3	128864699	128864699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:128864699G>A	ENST00000393295.3	-	6	522	c.205C>T	c.(205-207)Cga>Tga	p.R69*	ISY1_ENST00000471497.1_5'UTR|ISY1-RAB43_ENST00000418265.1_Nonsense_Mutation_p.R69*|ISY1_ENST00000393292.3_Nonsense_Mutation_p.R69*|ISY1_ENST00000273541.8_Nonsense_Mutation_p.R69*	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	69					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						TCACGAATTCGAAATTCACCT	0.398																																					p.R69X												.	.	0			c.C205T	3						.						87.0	85.0	86.0					3																	128864699		1887	4115	6002	130347389	SO:0001587	stop_gained	339122	exon6				CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.205C>T	3.37:g.128864699G>A	ENSP00000376973:p.Arg69*		130347389	NM_001199469	Q96IL2|Q9BT05	Nonsense_Mutation	SNP	ENST00000393295.3	37	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	G	37	6.630299	0.97718	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	.	.	.	5.31	2.23	0.28157	.	0.163089	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8982	0.24267	0.0896:0.0:0.6098:0.3006	.	.	.	.	X	69;69;69;7;69	.	ENSP00000273541:R69X	R	-	1	2	ISY1	130347389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.738000	0.47401	1.241000	0.43820	0.591000	0.81541	CGA		0.398	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701	
COPG1	22820	broad.mit.edu	37	3	128974945	128974945	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:128974945G>A	ENST00000314797.6	+	8	631	c.527G>A	c.(526-528)cGc>cAc	p.R176H		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	176					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GTGGTCAAGCGCTGGGTGAAT	0.532																																					p.R176H												.	.	0			c.G527A	3						.						172.0	145.0	154.0					3																	128974945		2203	4300	6503	130457635	SO:0001583	missense	22820	exon8			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.527G>A	3.37:g.128974945G>A	ENSP00000325002:p.Arg176His		130457635	NM_016128	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885940	0.91814	.	.	ENSG00000181789	ENST00000314797	T	0.26373	1.74	4.18	4.18	0.49190	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.190272	0.36338	N	0.002657	T	0.59128	0.2171	M	0.92784	3.345	0.58432	D	0.999994	D	0.71674	0.998	D	0.78314	0.991	T	0.70883	-0.4751	10	0.87932	D	0	-1.5716	14.0905	0.64987	0.0:0.0:1.0:0.0	.	176	Q9Y678	COPG_HUMAN	H	176	ENSP00000325002:R176H	ENSP00000325002:R176H	R	+	2	0	COPG	130457635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.176000	0.68965	0.585000	0.79938	CGC		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	
COL6A5	256076	broad.mit.edu	37	3	130174354	130174354	+	Nonsense_Mutation	SNP	G	G	T	rs555396988	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:130174354G>T	ENST00000432398.2	+	37	7128	c.6634G>T	c.(6634-6636)Gaa>Taa	p.E2212*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.E2212*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2212	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.E2212*(1)|p.E251*(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CATTGGCCAAGAATTAAATTC	0.358													G|||	2	0.000399361	0.0	0.0	5008	,	,		14426	0.0		0.0	False		,,,				2504	0.002				p.E2212X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G6634T	3						.						45.0	44.0	44.0					3																	130174354		1809	4066	5875	131657044	SO:0001587	stop_gained	256076	exon37			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6634G>T	3.37:g.130174354G>T	ENSP00000390895:p.Glu2212*		131657044	NM_153264	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	ENST00000432398.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.354501|15.354501	0.99831|0.99831	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	.|.	.|.	.|.	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	0.385199|.	0.18687|.	N|.	0.133967|.	.|T	.|0.62183	.|0.2407	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69442	.|-0.5144	.|3	0.22109|.	T|.	0.4|.	.|.	12.6109|12.6109	0.56549|0.56549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2212;2212;155;47|463	.|.	ENSP00000265379:E2212X|.	E|R	+|+	1|2	0|0	COL6A5|COL6A5	131657044|131657044	0.842000|0.842000	0.29525|0.29525	0.143000|0.143000	0.22291|0.22291	0.014000|0.014000	0.08584|0.08584	2.707000|2.707000	0.47143|0.47143	2.423000|2.423000	0.82170|0.82170	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.358	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
COL6A6	131873	broad.mit.edu	37	3	130281956	130281956	+	Missense_Mutation	SNP	C	C	T	rs201898554		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:130281956C>T	ENST00000358511.6	+	2	140	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	COL6A6_ENST00000453409.2_Missense_Mutation_p.R37C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	37	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R37C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGCTCTGATCGCCTGGGATC	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17205	0.0		0.0	False		,,,				2504	0.0				p.R37C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C109T	3						.						182.0	173.0	176.0					3																	130281956		1943	4141	6084	131764646	SO:0001583	missense	131873	exon2			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.109C>T	3.37:g.130281956C>T	ENSP00000351310:p.Arg37Cys		131764646	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.44	1.350350	0.24512	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83506	-1.73;-1.73	5.66	3.7	0.42460	von Willebrand factor, type A (3);	0.400717	0.24102	N	0.041532	T	0.73156	0.3551	L	0.27053	0.805	0.09310	N	1	P	0.39157	0.662	B	0.41088	0.347	T	0.64765	-0.6330	10	0.44086	T	0.13	.	8.452	0.32877	0.2472:0.4226:0.3302:0.0	.	37	A6NMZ7	CO6A6_HUMAN	C	37	ENSP00000351310:R37C;ENSP00000399236:R37C	ENSP00000351310:R37C	R	+	1	0	COL6A6	131764646	0.007000	0.16637	0.973000	0.42090	0.442000	0.32017	1.732000	0.38146	1.330000	0.45394	0.561000	0.74099	CGC		0.453	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
COL6A6	131873	broad.mit.edu	37	3	130287223	130287223	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:130287223C>A	ENST00000358511.6	+	5	2207	c.2176C>A	c.(2176-2178)Ctc>Atc	p.L726I	COL6A6_ENST00000453409.2_Missense_Mutation_p.L726I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	726	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L726I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAAGTTTCTCATCCTCAT	0.517																																					p.L726I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2176A	3						.						86.0	89.0	88.0					3																	130287223		1948	4129	6077	131769913	SO:0001583	missense	131873	exon5			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2176C>A	3.37:g.130287223C>A	ENSP00000351310:p.Leu726Ile		131769913	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152576	0.78001	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.77620	-1.11;-1.11	5.51	5.51	0.81932	von Willebrand factor, type A (3);	0.000000	0.51477	D	0.000093	D	0.87458	0.6182	M	0.66378	2.025	0.46631	D	0.999134	D	0.89917	1.0	D	0.87578	0.998	D	0.87158	0.2213	10	0.51188	T	0.08	.	19.0015	0.92836	0.0:1.0:0.0:0.0	.	726	A6NMZ7	CO6A6_HUMAN	I	726	ENSP00000351310:L726I;ENSP00000399236:L726I	ENSP00000351310:L726I	L	+	1	0	COL6A6	131769913	0.997000	0.39634	0.995000	0.50966	0.810000	0.45777	2.485000	0.45250	2.582000	0.87167	0.655000	0.94253	CTC		0.517	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
PIK3R4	30849	broad.mit.edu	37	3	130409478	130409478	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:130409478C>T	ENST00000356763.3	-	14	3676	c.3119G>A	c.(3118-3120)cGa>cAa	p.R1040Q	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1040					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1040Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TCCTCCAATTCGGCTGTATGT	0.403																																					p.R1040Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3119A	3						.						89.0	86.0	87.0					3																	130409478		2203	4300	6503	131892168	SO:0001583	missense	30849	exon14			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3119G>A	3.37:g.130409478C>T	ENSP00000349205:p.Arg1040Gln		131892168	NM_014602	Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118083	0.94385	.	.	ENSG00000196455	ENST00000356763	T	0.01295	5.04	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.128449	0.53938	D	0.000046	T	0.05227	0.0139	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	P	0.62184	0.899	T	0.61753	-0.6998	10	0.12766	T	0.61	-10.7488	18.4155	0.90568	0.0:1.0:0.0:0.0	.	1040	Q99570	PI3R4_HUMAN	Q	1040	ENSP00000349205:R1040Q	ENSP00000349205:R1040Q	R	-	2	0	PIK3R4	131892168	1.000000	0.71417	0.991000	0.47740	0.900000	0.52787	7.594000	0.82698	2.357000	0.79964	0.462000	0.41574	CGA		0.403	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602	
ATP2C1	27032	broad.mit.edu	37	3	130698194	130698194	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:130698194A>G	ENST00000510168.1	+	19	2222	c.1672A>G	c.(1672-1674)Aca>Gca	p.T558A	ATP2C1_ENST00000508532.1_Missense_Mutation_p.T558A|ATP2C1_ENST00000393221.4_Missense_Mutation_p.T592A|ATP2C1_ENST00000422190.2_Missense_Mutation_p.T558A|ATP2C1_ENST00000504381.1_Missense_Mutation_p.T503A|ATP2C1_ENST00000513801.1_Missense_Mutation_p.T542A|ATP2C1_ENST00000328560.8_Missense_Mutation_p.T558A|ATP2C1_ENST00000359644.3_Missense_Mutation_p.T558A|ATP2C1_ENST00000504948.1_Missense_Mutation_p.T542A|ATP2C1_ENST00000507488.2_Missense_Mutation_p.T542A|ATP2C1_ENST00000505330.1_Missense_Mutation_p.T542A|ATP2C1_ENST00000428331.2_Missense_Mutation_p.T558A|ATP2C1_ENST00000533801.2_Missense_Mutation_p.T553A			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	558					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.T558A(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCTGTTACAACACTCATTGC	0.428									Hailey-Hailey disease																												p.T542A	Esophageal Squamous(99;456 1443 27647 34099 42636)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1624G	3						.						133.0	128.0	130.0					3																	130698194		2203	4300	6503	132180884	SO:0001583	missense	27032	exon18	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1672A>G	3.37:g.130698194A>G	ENSP00000427461:p.Thr558Ala		132180884	NM_001199183	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	8.343	0.829236	0.16749	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81;-3.81;-3.81;-3.81;-3.81;-3.81;-3.81;-3.81;-3.81	5.68	5.68	0.88126	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.143649	0.64402	D	0.000007	D	0.89403	0.6705	N	0.20304	0.555	0.49687	D	0.99981	B;B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.10450	0.005;0.005;0.005;0.005;0.005;0.005;0.005	D	0.84599	0.0671	10	0.13470	T	0.59	.	11.045	0.47852	0.928:0.0:0.072:0.0	.	592;553;592;558;592;558;558	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	A	542;503;542;592;553;558;558;542;542;558;558;558;558;557	ENSP00000423774:T542A;ENSP00000425320:T503A;ENSP00000421326:T542A;ENSP00000376914:T592A;ENSP00000432956:T553A;ENSP00000427461:T558A;ENSP00000424783:T558A;ENSP00000423330:T542A;ENSP00000422872:T542A;ENSP00000329664:T558A;ENSP00000395809:T558A;ENSP00000352665:T558A;ENSP00000402677:T558A	ENSP00000329664:T558A	T	+	1	0	ATP2C1	132180884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.217000	0.72218	2.160000	0.67779	0.533000	0.62120	ACA		0.428	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486	
CPNE4	131034	broad.mit.edu	37	3	131300426	131300426	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:131300426G>C	ENST00000512055.1	-	13	2990	c.864C>G	c.(862-864)tgC>tgG	p.C288W	CPNE4_ENST00000512332.1_Missense_Mutation_p.C306W|CPNE4_ENST00000429747.1_Missense_Mutation_p.C288W|CPNE4_ENST00000502818.1_Missense_Mutation_p.C306W|CPNE4_ENST00000511604.1_Missense_Mutation_p.C288W			Q96A23	CPNE4_HUMAN	copine IV	288						extracellular vesicular exosome (GO:0070062)		p.C288W(1)|p.C288*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TACATACCTTGCACAGATTCA	0.448																																					p.C288W												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.C864G	3						.						272.0	216.0	235.0					3																	131300426		2203	4300	6503	132783116	SO:0001583	missense	131034	exon9			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.864C>G	3.37:g.131300426G>C	ENSP00000421705:p.Cys288Trp		132783116	NM_130808	D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.832049	0.32421	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.55930	0.5;0.5;0.49;0.5;0.49	5.51	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.84948	2.725	0.80722	D	1	D;D	0.71674	0.998;0.996	P;D	0.63033	0.893;0.91	T	0.72060	-0.4404	10	0.87932	D	0	-20.9251	9.2726	0.37681	0.2354:0.0:0.7646:0.0	.	306;288	Q96A23-2;Q96A23	.;CPNE4_HUMAN	W	288;288;306;288;306	ENSP00000421705:C288W;ENSP00000411904:C288W;ENSP00000424853:C306W;ENSP00000423811:C288W;ENSP00000421646:C306W	ENSP00000411904:C288W	C	-	3	2	CPNE4	132783116	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	2.584000	0.46102	0.705000	0.31890	-0.157000	0.13467	TGC		0.448	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
CNTN6	27255	broad.mit.edu	37	3	1367502	1367502	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:1367502C>A	ENST00000446702.2	+	9	1577	c.950C>A	c.(949-951)cCt>cAt	p.P317H	CNTN6_ENST00000539053.1_Missense_Mutation_p.P245H|CNTN6_ENST00000350110.2_Missense_Mutation_p.P317H			Q9UQ52	CNTN6_HUMAN	contactin 6	317					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P317H(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAAACAGCTCCTCCAGAATGG	0.423																																					p.P317H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C950A	3						.						101.0	95.0	97.0					3																	1367502		2203	4300	6503	1342502	SO:0001583	missense	27255	exon9			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.950C>A	3.37:g.1367502C>A	ENSP00000407822:p.Pro317His		1342502	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	5.347	0.249367	0.10130	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.83992	-1.79;-1.79;-1.79	5.27	3.22	0.36961	.	0.256776	0.28171	N	0.016329	D	0.82481	0.5046	M	0.67397	2.05	0.09310	N	1	D	0.61080	0.989	P	0.53102	0.718	T	0.70788	-0.4777	10	0.17369	T	0.5	.	6.534	0.22341	0.0:0.6516:0.0:0.3484	.	317	Q9UQ52	CNTN6_HUMAN	H	317;245;317	ENSP00000407822:P317H;ENSP00000442791:P245H;ENSP00000341882:P317H	ENSP00000341882:P317H	P	+	2	0	CNTN6	1342502	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	0.967000	0.29344	1.234000	0.43709	0.655000	0.94253	CCT		0.423	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
ACAD11	84129	broad.mit.edu	37	3	132338375	132338375	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:132338375G>T	ENST00000264990.6	-	10	2183	c.1212C>A	c.(1210-1212)ttC>ttA	p.F404L	ACAD11_ENST00000481970.2_Missense_Mutation_p.F404L|ACAD11_ENST00000355458.3_Missense_Mutation_p.F404L|ACAD11_ENST00000545291.1_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	404					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.F404L(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TTTGAACATAGAACTCAGTTA	0.279																																					p.F404L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1212A	3						.						77.0	80.0	79.0					3																	132338375		2203	4294	6497	133821065	SO:0001583	missense	84129	exon10			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1212C>A	3.37:g.132338375G>T	ENSP00000264990:p.Phe404Leu		133821065	NM_032169	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	G	9.766	1.171454	0.21621	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.96491	-4.0;-4.03;1.96	5.82	3.09	0.35607	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	.	.	.	.	D	0.92234	0.7537	L	0.33137	0.985	0.80722	D	1	B;B	0.33135	0.08;0.399	B;B	0.36244	0.028;0.22	D	0.86873	0.2037	9	0.36615	T	0.2	.	8.0195	0.30400	0.3797:0.0:0.6203:0.0	.	404;404	D6RDI8;Q709F0	.;ACD11_HUMAN	L	404	ENSP00000347636:F404L;ENSP00000264990:F404L;ENSP00000420907:F404L	ENSP00000264990:F404L	F	-	3	2	ACAD11	133821065	1.000000	0.71417	0.998000	0.56505	0.366000	0.29705	1.484000	0.35508	0.388000	0.25054	-0.145000	0.13849	TTC		0.279	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	
TOPBP1	11073	broad.mit.edu	37	3	133362190	133362190	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:133362190C>G	ENST00000260810.5	-	12	2006	c.1875G>C	c.(1873-1875)ttG>ttC	p.L625F	TOPBP1_ENST00000511439.1_5'Flank	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	625	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.L538F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTGGATCAAACAAAGTCTGAT	0.388								Other conserved DNA damage response genes																													p.L625F	Ovarian(21;193 658 4424 15423 17362)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1875C	3						.						63.0	59.0	60.0					3																	133362190		1842	4088	5930	134844880	SO:0001583	missense	11073	exon12			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1875G>C	3.37:g.133362190C>G	ENSP00000260810:p.Leu625Phe		134844880	NM_007027	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	ENST00000260810.5	37	CCDS46919.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594045	0.46214	.	.	ENSG00000163781	ENST00000260810	T	0.13901	2.55	5.86	0.577	0.17385	BRCT (2);	0.065348	0.64402	D	0.000009	T	0.20780	0.0500	M	0.68952	2.095	0.29136	N	0.879327	D	0.76494	0.999	D	0.69479	0.964	T	0.23048	-1.0199	10	0.12430	T	0.62	.	0.9358	0.01344	0.1941:0.3181:0.2179:0.2699	.	625	Q92547	TOPB1_HUMAN	F	625	ENSP00000260810:L625F	ENSP00000260810:L625F	L	-	3	2	TOPBP1	134844880	0.000000	0.05858	0.646000	0.29493	0.767000	0.43475	-0.216000	0.09266	0.487000	0.27698	-0.302000	0.09304	TTG		0.388	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027	
TF	7018	broad.mit.edu	37	3	133467339	133467339	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:133467339G>A	ENST00000402696.3	+	2	612	c.127G>A	c.(127-129)Gac>Aac	p.D43N	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_Intron|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	43	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.D43N(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GAGTTTCCGCGACCATATGAA	0.542																																					p.D43N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G127A	3						.						216.0	175.0	189.0					3																	133467339		2203	4300	6503	134950029	SO:0001583	missense	7018	exon2				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.127G>A	3.37:g.133467339G>A	ENSP00000385834:p.Asp43Asn		134950029	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969533	0.34754	.	.	ENSG00000091513	ENST00000402696	T	0.34275	1.37	4.24	4.24	0.50183	.	0.608485	0.17733	N	0.163814	T	0.29620	0.0739	L	0.41079	1.255	0.80722	D	1	B	0.26876	0.162	B	0.20955	0.032	T	0.07404	-1.0774	10	0.33141	T	0.24	-22.3527	13.6835	0.62502	0.0:0.0:1.0:0.0	.	43	P02787	TRFE_HUMAN	N	43	ENSP00000385834:D43N	ENSP00000385834:D43N	D	+	1	0	TF	134950029	0.077000	0.21312	0.007000	0.13788	0.012000	0.07955	2.074000	0.41529	2.208000	0.71279	0.563000	0.77884	GAC		0.542	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
TF	7018	broad.mit.edu	37	3	133473408	133473408	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:133473408G>A	ENST00000402696.3	+	4	880	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_Missense_Mutation_p.R5Q|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	132	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.R132Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AACCAGCTTCGAGGCAAGAAG	0.512																																					p.R132Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G395A	3						.						156.0	151.0	153.0					3																	133473408		2203	4300	6503	134956098	SO:0001583	missense	7018	exon4				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.395G>A	3.37:g.133473408G>A	ENSP00000385834:p.Arg132Gln		134956098	NM_001063	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005850	0.19199	.	.	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.38887	1.11;1.48;1.11	5.25	-2.6	0.06190	.	1.299320	0.04622	N	0.402175	T	0.19565	0.0470	N	0.03194	-0.395	0.09310	N	1	B	0.17268	0.021	B	0.12156	0.007	T	0.36311	-0.9753	10	0.02654	T	1	-2.2756	14.4013	0.67047	0.2881:0.0:0.7119:0.0	.	132	P02787	TRFE_HUMAN	Q	132;5;5	ENSP00000385834:R132Q;ENSP00000419338:R5Q;ENSP00000264998:R5Q	ENSP00000264998:R5Q	R	+	2	0	TF	134956098	0.000000	0.05858	0.763000	0.31416	0.494000	0.33585	-0.344000	0.07780	-0.542000	0.06249	0.561000	0.74099	CGA		0.512	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
RAB6B	51560	broad.mit.edu	37	3	133558427	133558427	+	Silent	SNP	G	G	A	rs201173392		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:133558427G>A	ENST00000285208.4	-	5	673	c.324C>T	c.(322-324)atC>atT	p.I108I	RAB6B_ENST00000486858.1_Silent_p.I95I|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.I108I	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	108					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.I108I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						TGACGTCGTCGATCCACTTAG	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		23819	0.0		0.0	False		,,,				2504	0.0				p.I108I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C324T	3						.						205.0	166.0	179.0					3																	133558427		2203	4300	6503	135041117	SO:0001819	synonymous_variant	51560	exon5			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.324C>T	3.37:g.133558427G>A			135041117	NM_016577	B2R5Z9|B7Z337|D3DND3|Q92929	Silent	SNP	ENST00000285208.4	37	CCDS3082.1																																																																																				0.547	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1		
SLCO2A1	6578	broad.mit.edu	37	3	133666178	133666178	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:133666178G>A	ENST00000310926.4	-	9	1490	c.1217C>T	c.(1216-1218)aCc>aTc	p.T406I	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.T330I	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	406					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)	p.T406I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CATGGAGATGGTGATGATGGT	0.517																																					p.T406I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1217T	3						.						133.0	120.0	125.0					3																	133666178		2203	4300	6503	135148868	SO:0001583	missense	6578	exon9				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1217C>T	3.37:g.133666178G>A	ENSP00000311291:p.Thr406Ile		135148868	NM_005630	Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989685	0.35131	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.37058	1.22;1.22	5.72	-1.04	0.10068	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.425641	0.27181	N	0.020541	T	0.20047	0.0482	N	0.17278	0.47	0.42771	D	0.993839	P;B;B	0.43578	0.811;0.004;0.05	B;B;B	0.43123	0.409;0.004;0.076	T	0.08351	-1.0726	10	0.10636	T	0.68	.	11.2972	0.49284	0.7019:0.0:0.2981:0.0	.	225;330;406	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	I	406;330	ENSP00000311291:T406I;ENSP00000418893:T330I	ENSP00000311291:T406I	T	-	2	0	SLCO2A1	135148868	1.000000	0.71417	0.988000	0.46212	0.813000	0.45954	1.391000	0.34475	-0.260000	0.09418	-0.345000	0.07892	ACC		0.517	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	
CEP63	80254	broad.mit.edu	37	3	134269046	134269046	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:134269046G>A	ENST00000337090.3	+	11	1497	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	CEP63_ENST00000332047.5_Missense_Mutation_p.E396K|CEP63_ENST00000383229.3_Missense_Mutation_p.E442K|CEP63_ENST00000513612.2_Missense_Mutation_p.E442K|CEP63_ENST00000354446.3_Missense_Mutation_p.E396K|CEP63_ENST00000606977.1_Missense_Mutation_p.E442K			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	442					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.E442K(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCAGACATGGAAAAGCGACT	0.398																																					p.E396K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1186A	3						.						91.0	88.0	89.0					3																	134269046		2203	4300	6503	135751736	SO:0001583	missense	80254	exon10			AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.1324G>A	3.37:g.134269046G>A	ENSP00000336524:p.Glu442Lys		135751736	NM_001042383	D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.967888|4.967888	0.92855|0.92855	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000337090;ENST00000383229;ENST00000513612;ENST00000514678|ENST00000504929	T;T;T;T;T;T|.	0.45276|.	0.91;1.4;1.62;0.97;1.62;0.9|.	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.203634|.	0.43110|.	D|.	0.000608|.	T|.	0.76018|.	0.3929|.	M|M	0.74881|0.74881	2.28|2.28	0.47441|0.47441	D|D	0.999425|0.999425	D;D;D;B|.	0.76494|.	0.999;0.98;0.999;0.447|.	D;P;D;B|.	0.81914|.	0.995;0.837;0.988;0.329|.	T|.	0.76162|.	-0.3060|.	10|.	0.25106|.	T|.	0.35|.	-16.3172|-16.3172	17.5259|17.5259	0.87800|0.87800	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	442;442;396;396|.	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3|.	CEP63_HUMAN;.;.;.|.	K|X	396;396;442;442;442;115|130	ENSP00000328382:E396K;ENSP00000346432:E396K;ENSP00000336524:E442K;ENSP00000372716:E442K;ENSP00000426129:E442K;ENSP00000427526:E115K|.	ENSP00000328382:E396K|.	E|W	+|+	1|3	0|0	CEP63|CEP63	135751736|135751736	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	7.270000|7.270000	0.78493|0.78493	2.604000|2.604000	0.88044|0.88044	0.650000|0.650000	0.86243|0.86243	GAA|TGG		0.398	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180	
STAG1	10274	broad.mit.edu	37	3	136219115	136219115	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:136219115G>A	ENST00000383202.2	-	9	1108	c.852C>T	c.(850-852)atC>atT	p.I284I	STAG1_ENST00000236698.5_Silent_p.I284I|STAG1_ENST00000434713.2_Silent_p.I58I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	284					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.I284I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCATATTTTCGATTTCATCCT	0.264																																					p.I284I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C852T	3						.						35.0	35.0	35.0					3																	136219115		2184	4281	6465	137701805	SO:0001819	synonymous_variant	10274	exon9			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.852C>T	3.37:g.136219115G>A			137701805	NM_005862	O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	CCDS3090.1																																																																																				0.264	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
STAG1	10274	broad.mit.edu	37	3	136240208	136240208	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:136240208G>A	ENST00000383202.2	-	7	779	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	STAG1_ENST00000236698.5_Missense_Mutation_p.R175C|STAG1_ENST00000480733.1_Missense_Mutation_p.R175C|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	175					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R175C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAGTTTGAACGAAATTTTTTC	0.353																																					p.R175C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C523T	3						.						82.0	83.0	83.0					3																	136240208		2203	4300	6503	137722898	SO:0001583	missense	10274	exon7			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.523C>T	3.37:g.136240208G>A	ENSP00000372689:p.Arg175Cys		137722898	NM_005862	O00539|Q6P275	Missense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503490	0.85176	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T;T	0.53640	0.61;0.61;0.61	5.78	5.78	0.91487	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.72338	0.977;0.973;0.969;0.977	T	0.79434	-0.1805	10	0.87932	D	0	.	20.0024	0.97423	0.0:0.0:1.0:0.0	.	192;175;175;175	Q4LE48;C9JJQ0;Q6P275;Q8WVM7	.;.;.;STAG1_HUMAN	C	175	ENSP00000372689:R175C;ENSP00000236698:R175C;ENSP00000420789:R175C	ENSP00000236698:R175C	R	-	1	0	STAG1	137722898	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.532000	0.67154	2.722000	0.93159	0.467000	0.42956	CGT		0.353	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862	
SLC35G2	80723	broad.mit.edu	37	3	136573866	136573866	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:136573866A>C	ENST00000446465.2	+	2	1192	c.564A>C	c.(562-564)atA>atC	p.I188I	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.I188I|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2									p.I188I(1)									CATTTTCAATAGTTCCTCCCA	0.423																																					p.I188I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A564C	3						.						132.0	125.0	127.0					3																	136573866		2203	4300	6503	138056556	SO:0001819	synonymous_variant	80723	exon2			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.564A>C	3.37:g.136573866A>C			138056556	NM_001097599		Silent	SNP	ENST00000446465.2	37	CCDS3091.1																																																																																				0.423	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246	
ESYT3	83850	broad.mit.edu	37	3	138183335	138183335	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:138183335C>A	ENST00000389567.4	+	9	1250	c.1064C>A	c.(1063-1065)cCc>cAc	p.P355H		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	355	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AACCTGAACCCCACCTGGAAC	0.557																																					p.P355H												.	.	0			c.C1064A	3						.						103.0	85.0	91.0					3																	138183335		2203	4300	6503	139666025	SO:0001583	missense	83850	exon9			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1064C>A	3.37:g.138183335C>A	ENSP00000374218:p.Pro355His		139666025	NM_031913	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937829	0.73557	.	.	ENSG00000158220	ENST00000389567	D	0.97575	-4.44	4.79	3.89	0.44902	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.062472	0.64402	D	0.000003	D	0.99177	0.9715	H	0.99740	4.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98241	1.0488	10	0.87932	D	0	-12.35	12.5323	0.56122	0.0:0.8308:0.1692:0.0	.	355	A0FGR9	ESYT3_HUMAN	H	355	ENSP00000374218:P355H	ENSP00000374218:P355H	P	+	2	0	ESYT3	139666025	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.875000	0.75551	1.184000	0.42957	0.455000	0.32223	CCC		0.557	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	
ESYT3	83850	broad.mit.edu	37	3	138188949	138188949	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:138188949C>A	ENST00000389567.4	+	16	1737	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	517	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.F517L(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGTTCTCCTTCTTTGTGCACA	0.532																																					p.F517L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1551A	3						.						72.0	71.0	71.0					3																	138188949		1927	4131	6058	139671639	SO:0001583	missense	83850	exon16			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1551C>A	3.37:g.138188949C>A	ENSP00000374218:p.Phe517Leu		139671639	NM_031913	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757451	0.49468	.	.	ENSG00000158220	ENST00000389567	T	0.77358	-1.09	5.4	2.66	0.31614	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.058286	0.64402	D	0.000002	D	0.86171	0.5869	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.83134	-0.0112	10	0.46703	T	0.11	-3.4334	7.2692	0.26248	0.0:0.7258:0.0:0.2742	.	517	A0FGR9	ESYT3_HUMAN	L	517	ENSP00000374218:F517L	ENSP00000374218:F517L	F	+	3	2	ESYT3	139671639	1.000000	0.71417	0.992000	0.48379	0.175000	0.22909	1.738000	0.38207	0.275000	0.22094	-0.266000	0.10368	TTC		0.532	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913	
XPC	7508	broad.mit.edu	37	3	14206403	14206403	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:14206403T>G	ENST00000285021.7	-	7	1024	c.810A>C	c.(808-810)gaA>gaC	p.E270D	XPC_ENST00000449060.2_Missense_Mutation_p.E233D	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	270					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E270D(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGCTGAAAGTTCTGCATTAA	0.433			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.E233D		yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A699C	3						.						127.0	122.0	124.0					3																	14206403		1912	4129	6041	14181407	SO:0001583	missense	7508	exon7	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.810A>C	3.37:g.14206403T>G	ENSP00000285021:p.Glu270Asp		14181407	NM_001145769	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	T	2.657	-0.280581	0.05642	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.16743	2.32;2.32	5.47	-10.9	0.00192	.	0.808160	0.12092	N	0.500314	T	0.04497	0.0123	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.27088	-1.0084	10	0.14656	T	0.56	-12.3423	6.6677	0.23050	0.1586:0.5106:0.1506:0.1803	.	233;270	E9PH69;Q01831	.;XPC_HUMAN	D	270;233	ENSP00000285021:E270D;ENSP00000404002:E233D	ENSP00000285021:E270D	E	-	3	2	XPC	14181407	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.969000	0.00668	-1.959000	0.01018	-3.714000	0.00023	GAA		0.433	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	
COPB2	9276	broad.mit.edu	37	3	139097937	139097937	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:139097937G>A	ENST00000333188.5	-	4	488	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	COPB2_ENST00000510491.1_5'UTR|COPB2_ENST00000507777.1_Missense_Mutation_p.R74C	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	103					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.R103C(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAATACAGCGAATGTAGTCT	0.383																																					p.R103C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307T	3						.						124.0	116.0	119.0					3																	139097937		2203	4300	6503	140580627	SO:0001583	missense	9276	exon4			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.307C>T	3.37:g.139097937G>A	ENSP00000329419:p.Arg103Cys		140580627	NM_004766	B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085074	0.94100	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000515006;ENST00000512153;ENST00000513274;ENST00000512242;ENST00000514508	T;T;D;T;T;T;D	0.81821	0.06;0.06;-1.54;0.06;0.06;0.06;-1.54	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90703	0.7083	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91052	0.4879	10	0.87932	D	0	-21.7541	20.0639	0.97700	0.0:0.0:1.0:0.0	.	103;103	B4E2C9;P35606	.;COPB2_HUMAN	C	103;74;103;74;74;74;74	ENSP00000329419:R103C;ENSP00000422295:R74C;ENSP00000423271:R103C;ENSP00000422547:R74C;ENSP00000424144:R74C;ENSP00000427185:R74C;ENSP00000422469:R74C	ENSP00000329419:R103C	R	-	1	0	COPB2	140580627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.817000	0.96982	0.557000	0.71058	CGC		0.383	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766	
XRN1	54464	broad.mit.edu	37	3	142139903	142139903	+	Silent	SNP	G	G	A	rs148815031		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:142139903G>A	ENST00000264951.4	-	10	1245	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	XRN1_ENST00000392981.2_Silent_p.V376V|XRN1_ENST00000544157.1_Silent_p.V166V|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000463916.1_Silent_p.V376V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	376					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.V376V(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTTCTGCTGCGACACCTGCTG	0.378																																					p.V376V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1128T	3						.	G	,	1,4405	2.1+/-5.4	0,1,2202	145.0	153.0	150.0		1128,1128	-10.6	0.0	3	dbSNP_134	150	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	XRN1	NM_001042604.1,NM_019001.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	376/1694,376/1707	142139903	1,13005	2203	4300	6503	143622593	SO:0001819	synonymous_variant	54464	exon10			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1128C>T	3.37:g.142139903G>A			143622593	NM_019001	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Silent	SNP	ENST00000264951.4	37	CCDS3123.1																																																																																				0.378	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
U2SURP	23350	broad.mit.edu	37	3	142741439	142741439	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:142741439G>T	ENST00000473835.2	+	11	1043	c.953G>T	c.(952-954)aGa>aTa	p.R318I	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.R317I	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	318	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R318I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GCCAGAGAGAGAAATTGCGGC	0.358																																					p.R318I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G953T	3						.						94.0	94.0	94.0					3																	142741439		1818	4077	5895	144224129	SO:0001583	missense	23350	exon11			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.953G>T	3.37:g.142741439G>T	ENSP00000418563:p.Arg318Ile		144224129	NM_001080415	A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	34	5.375572	0.95923	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.77877	-1.13;-1.13	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.084489	0.85682	D	0.000000	D	0.92996	0.7771	H	0.98370	4.215	0.80722	D	1	D;D;D	0.71674	0.992;0.998;0.993	D;D;D	0.71184	0.954;0.954;0.972	D	0.94528	0.7733	10	0.46703	T	0.11	-19.2193	19.4415	0.94823	0.0:0.0:1.0:0.0	.	318;317;318	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	I	318;318;317	ENSP00000418563:R318I;ENSP00000422011:R317I	ENSP00000322376:R318I	R	+	2	0	U2SURP	144224129	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.596000	0.87737	0.555000	0.69702	AGA		0.358	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
SLC9A9	285195	broad.mit.edu	37	3	143515702	143515702	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:143515702G>A	ENST00000316549.6	-	3	630	c.422C>T	c.(421-423)cCa>cTa	p.P141L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	141					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.P141L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAATATAATTGGTGGCAGTAA	0.308																																					p.P141L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C422T	3						.						54.0	59.0	57.0					3																	143515702		2201	4296	6497	144998392	SO:0001583	missense	285195	exon3			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.422C>T	3.37:g.143515702G>A	ENSP00000320246:p.Pro141Leu		144998392	NM_173653	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648677	0.87958	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.14144	2.53	5.45	5.45	0.79879	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000005	T	0.50292	0.1607	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63703	-0.6577	10	0.87932	D	0	.	18.0489	0.89341	0.0:0.0:1.0:0.0	.	141	Q8IVB4	SL9A9_HUMAN	L	141;24	ENSP00000320246:P141L	ENSP00000320246:P141L	P	-	2	0	SLC9A9	144998392	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.109000	0.89561	2.553000	0.86117	0.637000	0.83480	CCA		0.308	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	
FGD5	152273	broad.mit.edu	37	3	14862327	14862327	+	Silent	SNP	C	C	A	rs377228942		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:14862327C>A	ENST00000285046.5	+	1	1859	c.1749C>A	c.(1747-1749)ctC>ctA	p.L583L	FGD5_ENST00000543601.1_Silent_p.L342L	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	583					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.L342L(1)|p.L583L(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGGACAATCTCTCTCTGTCGT	0.562																																					p.L583L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1749A	3						.						44.0	46.0	45.0					3																	14862327		1972	4160	6132	14837331	SO:0001819	synonymous_variant	152273	exon1			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1749C>A	3.37:g.14862327C>A			14837331	NM_152536	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	CCDS46767.1																																																																																				0.562	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
PLOD2	5352	broad.mit.edu	37	3	145796919	145796919	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:145796919C>T	ENST00000360060.3	-	13	1661	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	PLOD2_ENST00000282903.5_Missense_Mutation_p.R495Q|PLOD2_ENST00000461497.1_Missense_Mutation_p.R155Q|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.R440Q	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	495					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.R495Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTAGCATTTCGGCAAAGAGC	0.393																																					p.R495Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1484A	3						.						205.0	191.0	196.0					3																	145796919		2203	4300	6503	147279609	SO:0001583	missense	5352	exon13			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1484G>A	3.37:g.145796919C>T	ENSP00000353170:p.Arg495Gln		147279609	NM_000935	B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988816	0.53934	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.39	4.51	0.55191	.	0.050334	0.85682	D	0.000000	T	0.78984	0.4370	L	0.33485	1.01	0.58432	D	0.999996	D;P;P;P	0.56287	0.975;0.955;0.912;0.493	P;P;B;B	0.45829	0.494;0.489;0.392;0.07	T	0.74987	-0.3476	10	0.15952	T	0.53	-11.6622	13.8672	0.63596	0.0:0.9264:0.0:0.0736	.	440;495;495;155	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	Q	155;495;495;440	ENSP00000419354:R155Q;ENSP00000282903:R495Q;ENSP00000353170:R495Q;ENSP00000420094:R440Q	ENSP00000282903:R495Q	R	-	2	0	PLOD2	147279609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.608000	0.54109	2.683000	0.91414	0.655000	0.94253	CGA		0.393	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935	
ZIC1	7545	broad.mit.edu	37	3	147128605	147128605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:147128605G>A	ENST00000282928.4	+	1	1435	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	236					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGAGCAGCTGGCCAACCCCAA	0.587																																					p.A236T												.	.	0			c.G706A	3						.						74.0	69.0	71.0					3																	147128605		2203	4300	6503	148611295	SO:0001583	missense	7545	exon1			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.706G>A	3.37:g.147128605G>A	ENSP00000282928:p.Ala236Thr		148611295	NM_003412	Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	6.497	0.459968	0.12342	.	.	ENSG00000152977	ENST00000282928	D	0.96522	-4.04	3.86	2.9	0.33743	.	0.190591	0.44688	D	0.000432	D	0.90321	0.6972	N	0.19112	0.55	0.40401	D	0.979649	B	0.02656	0.0	B	0.08055	0.003	D	0.85824	0.1387	10	0.12766	T	0.61	.	12.5307	0.56113	0.0:0.0:0.7189:0.2811	.	236	Q15915	ZIC1_HUMAN	T	236	ENSP00000282928:A236T	ENSP00000282928:A236T	A	+	1	0	ZIC1	148611295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.778000	0.26732	1.857000	0.53885	0.561000	0.74099	GCC		0.587	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
AGTR1	185	broad.mit.edu	37	3	148459171	148459171	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:148459171T>C	ENST00000497524.1	+	2	740	c.349T>C	c.(349-351)Ttt>Ctt	p.F117L	AGTR1_ENST00000475347.1_Missense_Mutation_p.F117L|AGTR1_ENST00000349243.3_Missense_Mutation_p.F117L|AGTR1_ENST00000461609.1_Missense_Mutation_p.F117L|AGTR1_ENST00000418473.2_Missense_Mutation_p.F117L|AGTR1_ENST00000402260.1_Missense_Mutation_p.F117L|AGTR1_ENST00000542281.1_Missense_Mutation_p.F117L|AGTR1_ENST00000474935.1_Missense_Mutation_p.F117L|AGTR1_ENST00000404754.2_Missense_Mutation_p.F117L	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	117					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.F117L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CGCTAGTGTGTTTCTACTCAC	0.488																																					p.F117L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T349C	3						.						119.0	115.0	116.0					3																	148459171		2203	4300	6503	149941861	SO:0001583	missense	185	exon3			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.349T>C	3.37:g.148459171T>C	ENSP00000419422:p.Phe117Leu		149941861	NM_032049	Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	T	14.70	2.613383	0.46631	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.39566	1.225	0.80722	D	1	P	0.47409	0.895	P	0.55011	0.766	T	0.44081	-0.9351	10	0.66056	D	0.02	-17.3404	15.8327	0.78769	0.0:0.0:0.0:1.0	.	117	P30556	AGTR1_HUMAN	L	117	ENSP00000419422:F117L;ENSP00000273430:F117L;ENSP00000443186:F117L;ENSP00000398832:F117L;ENSP00000385612:F117L;ENSP00000419783:F117L;ENSP00000418084:F117L;ENSP00000418851:F117L;ENSP00000385641:F117L	ENSP00000273430:F117L	F	+	1	0	AGTR1	149941861	1.000000	0.71417	0.909000	0.35828	0.385000	0.30292	6.166000	0.71896	2.132000	0.65825	0.533000	0.62120	TTT		0.488	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1		
CPA3	1359	broad.mit.edu	37	3	148596485	148596485	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:148596485C>T	ENST00000296046.3	+	5	476	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	142					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R142C(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AATGGTCTCTCGTATTAAAAT	0.294																																					p.R142C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C424T	3						.						73.0	83.0	80.0					3																	148596485		2202	4296	6498	150079175	SO:0001583	missense	1359	exon5				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.424C>T	3.37:g.148596485C>T	ENSP00000296046:p.Arg142Cys		150079175	NM_001870	Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996713	0.54147	.	.	ENSG00000163751	ENST00000296046	T	0.10099	2.91	5.04	4.14	0.48551	Peptidase M14, carboxypeptidase A (2);	0.161451	0.49305	D	0.000144	T	0.28234	0.0697	M	0.64567	1.98	0.42476	D	0.992846	D	0.89917	1.0	D	0.79108	0.992	T	0.02202	-1.1196	10	0.87932	D	0	.	11.7594	0.51894	0.3302:0.6698:0.0:0.0	.	142	P15088	CBPA3_HUMAN	C	142	ENSP00000296046:R142C	ENSP00000296046:R142C	R	+	1	0	CPA3	150079175	0.020000	0.18652	0.989000	0.46669	0.805000	0.45488	0.771000	0.26633	1.426000	0.47256	0.650000	0.86243	CGT		0.294	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870	
HLTF	6596	broad.mit.edu	37	3	148756976	148756976	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:148756976C>T	ENST00000310053.5	-	23	2849	c.2656G>A	c.(2656-2658)Gcc>Acc	p.A886T	HLTF_ENST00000494055.1_Missense_Mutation_p.A886T|HLTF_ENST00000392912.2_Missense_Mutation_p.A886T|HLTF_ENST00000465259.1_Missense_Mutation_p.A885T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	886	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A886T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTCTTTTGGGCCATGGAACCA	0.368																																					p.A886T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2656A	3						.						62.0	61.0	61.0					3																	148756976		2203	4300	6503	150239666	SO:0001583	missense	6596	exon23			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2656G>A	3.37:g.148756976C>T	ENSP00000308944:p.Ala886Thr		150239666	NM_139048	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	7.440	0.640571	0.14386	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82	5.98	5.06	0.68205	Helicase, C-terminal (3);	.	.	.	.	T	0.49609	0.1567	N	0.04245	-0.25	0.32442	N	0.546551	B;B;B	0.17465	0.022;0.022;0.022	B;B;B	0.17433	0.018;0.018;0.018	T	0.52102	-0.8620	9	0.23891	T	0.37	-10.265	7.1328	0.25510	0.0:0.7084:0.1485:0.1431	.	886;886;886	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	T	885;886;886;886;354	ENSP00000420745:A885T;ENSP00000308944:A886T;ENSP00000376644:A886T;ENSP00000420429:A886T;ENSP00000420106:A354T	ENSP00000308944:A886T	A	-	1	0	HLTF	150239666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.677000	0.25262	2.835000	0.97688	0.650000	0.86243	GCC		0.368	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
HLTF	6596	broad.mit.edu	37	3	148766718	148766718	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:148766718C>T	ENST00000310053.5	-	16	1881	c.1688G>A	c.(1687-1689)cGa>cAa	p.R563Q	HLTF_ENST00000392912.2_Missense_Mutation_p.R563Q|HLTF_ENST00000494055.1_Missense_Mutation_p.R563Q|HLTF_ENST00000465259.1_Missense_Mutation_p.R562Q	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	563	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R563Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATTTGGATTTCGTATGGCATG	0.343																																					p.R563Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1688A	3						.						170.0	153.0	159.0					3																	148766718		2203	4298	6501	150249408	SO:0001583	missense	6596	exon16			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1688G>A	3.37:g.148766718C>T	ENSP00000308944:p.Arg563Gln		150249408	NM_139048	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596569	0.96602	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.24	5.84	5.84	0.93424	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.97536	0.9193	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.993	D	0.97919	1.0313	9	0.72032	D	0.01	-8.38	18.9021	0.92446	0.0:1.0:0.0:0.0	.	563;563;563	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	Q	562;563;563;563;27	ENSP00000420745:R562Q;ENSP00000308944:R563Q;ENSP00000376644:R563Q;ENSP00000420429:R563Q;ENSP00000420106:R27Q	ENSP00000308944:R563Q	R	-	2	0	HLTF	150249408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.842000	0.75379	2.751000	0.94390	0.655000	0.94253	CGA		0.343	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
HPS3	84343	broad.mit.edu	37	3	148857971	148857971	+	Missense_Mutation	SNP	C	C	T	rs140810728	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:148857971C>T	ENST00000296051.2	+	2	538	c.398C>T	c.(397-399)tCg>tTg	p.S133L	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	133					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.S133L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATGCCGCTTTCGGAGGCCCCC	0.443									Hermansky-Pudlak syndrome				C|||	5	0.000998403	0.0	0.0014	5008	,	,		18676	0.003		0.0	False		,,,				2504	0.001				p.S133L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C398T	3						.	C	LEU/SER	0,4406		0,0,2203	132.0	132.0	132.0		398	4.7	0.0	3	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense	HPS3	NM_032383.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	133/1005	148857971	1,13005	2203	4300	6503	150340661	SO:0001583	missense	84343	exon2	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.398C>T	3.37:g.148857971C>T	ENSP00000296051:p.Ser133Leu		150340661	NM_032383	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	3	0.005244755244755245	0	0.0	C	14.21	2.466933	0.43839	0.0	1.16E-4	ENSG00000163755	ENST00000296051	T	0.67171	-0.25	5.55	4.68	0.58851	.	0.255939	0.39985	N	0.001206	T	0.63977	0.2557	M	0.68952	2.095	0.47819	D	0.999527	P	0.49090	0.919	P	0.46629	0.522	T	0.71787	-0.4487	10	0.49607	T	0.09	-5.4148	16.8488	0.85988	0.0:0.8715:0.1285:0.0	.	133	Q969F9	HPS3_HUMAN	L	133	ENSP00000296051:S133L	ENSP00000296051:S133L	S	+	2	0	HPS3	150340661	0.882000	0.30256	0.003000	0.11579	0.192000	0.23643	3.725000	0.54970	1.461000	0.47929	0.585000	0.79938	TCG		0.443	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
COMMD2	51122	broad.mit.edu	37	3	149459322	149459322	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:149459322G>A	ENST00000473414.1	-	5	640	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	196								p.R196C(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTGATGTTGCGAACAACTCTC	0.348																																					p.R196C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C586T	3						.						151.0	154.0	153.0					3																	149459322		2203	4300	6503	150942012	SO:0001583	missense	51122	exon5			AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.586C>T	3.37:g.149459322G>A	ENSP00000419475:p.Arg196Cys		150942012	NM_016094	Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	ENST00000473414.1	37	CCDS3145.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218708	0.79464	.	.	ENSG00000114744	ENST00000473414	T	0.39592	1.07	5.97	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74850	-0.3524	10	0.87932	D	0	-12.7084	14.9399	0.70986	0.0681:0.0:0.9319:0.0	.	196	Q86X83	COMD2_HUMAN	C	196	ENSP00000419475:R196C	ENSP00000419475:R196C	R	-	1	0	COMMD2	150942012	1.000000	0.71417	0.945000	0.38365	0.992000	0.81027	5.915000	0.69973	1.529000	0.49120	0.655000	0.94253	CGC		0.348	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356515.1	NM_016094	
RNF13	11342	broad.mit.edu	37	3	149678777	149678777	+	Silent	SNP	C	C	T	rs200361817		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:149678777C>T	ENST00000344229.3	+	11	1734	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	RNF13_ENST00000392894.3_Silent_p.D344D|RNF13_ENST00000361785.6_Silent_p.D225D	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	344					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D344D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATGAGGAAGACGACAATGAAG	0.433																																					p.D344D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1032T	3						.	C	,	0,4406		0,0,2203	96.0	86.0	89.0		1032,1032	-11.2	0.0	3		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RNF13	NM_007282.4,NM_183381.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	344/382,344/382	149678777	1,13005	2203	4300	6503	151161467	SO:0001819	synonymous_variant	11342	exon10			AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.1032C>T	3.37:g.149678777C>T			151161467	NM_183381	A6NC87|B3KR12|Q05D66|Q6IBJ9	Silent	SNP	ENST00000344229.3	37	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	C	5.393	0.257735	0.10239	0.0	1.16E-4	ENSG00000082996	ENST00000468289	.	.	.	5.62	-11.2	0.00127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3212	4.7804	0.13199	0.1297:0.247:0.4199:0.2033	.	.	.	.	X	146	.	.	R	+	1	2	RNF13	151161467	0.000000	0.05858	0.046000	0.18839	0.985000	0.73830	-3.587000	0.00422	-4.110000	0.00073	-0.247000	0.11927	CGA		0.433	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384	
TSC22D2	9819	broad.mit.edu	37	3	150176284	150176284	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:150176284C>A	ENST00000361875.3	+	4	3220	c.2204C>A	c.(2203-2205)tCt>tAt	p.S735Y	TSC22D2_ENST00000361136.2_Missense_Mutation_p.S711Y	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	735					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S735Y(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTGTTAAAATCTCTTTCAAGC	0.398																																					p.S735Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2204A	3						.						111.0	108.0	109.0					3																	150176284		2203	4300	6503	151658974	SO:0001583	missense	9819	exon4			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.2204C>A	3.37:g.150176284C>A	ENSP00000354543:p.Ser735Tyr		151658974	NM_014779	D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	ENST00000361875.3	37	CCDS3149.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671900	0.29693	.	.	ENSG00000196428	ENST00000543241;ENST00000361875;ENST00000361136	T;T	0.37058	1.22;1.36	5.38	5.38	0.77491	.	0.000000	0.52532	D	0.000069	T	0.58452	0.2123	L	0.53249	1.67	0.48452	D	0.999651	D;D	0.76494	0.998;0.999	D;D	0.83275	0.979;0.996	T	0.59495	-0.7444	10	0.87932	D	0	.	19.4956	0.95070	0.0:1.0:0.0:0.0	.	711;735	O75157-2;O75157	.;T22D2_HUMAN	Y	184;735;711	ENSP00000354543:S735Y;ENSP00000354893:S711Y	ENSP00000354893:S711Y	S	+	2	0	TSC22D2	151658974	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	5.654000	0.67974	2.693000	0.91896	0.655000	0.94253	TCT		0.398	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357123.2	NM_014779	
SIAH2	6478	broad.mit.edu	37	3	150460292	150460292	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:150460292A>G	ENST00000312960.3	-	2	1138	c.611T>C	c.(610-612)gTc>gCc	p.V204A		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	204	SBD.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|cellular protein catabolic process (GO:0044257)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|regulation of protein ubiquitination (GO:0031396)|regulation of RNA biosynthetic process (GO:2001141)|small GTPase mediated signal transduction (GO:0007264)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V204A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCTAGAAAGACGATGTCTTC	0.532																																					p.V204A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T611C	3						.						123.0	114.0	117.0					3																	150460292		2203	4300	6503	151942982	SO:0001583	missense	6478	exon2			U76248	CCDS3152.1	3q25	2012-02-23	2012-02-23		ENSG00000181788	ENSG00000181788	6.3.2.1		10858	protein-coding gene	gene with protein product		602213	"""seven in absentia (Drosophila) homolog 2"", ""seven in absentia homolog 2 (Drosophila)"""			9334332	Standard	NM_005067		Approved		uc003eyi.3	O43255	OTTHUMG00000159847	ENST00000312960.3:c.611T>C	3.37:g.150460292A>G	ENSP00000322457:p.Val204Ala		151942982	NM_005067	O43270	Missense_Mutation	SNP	ENST00000312960.3	37	CCDS3152.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.890558	0.91889	.	.	ENSG00000181788	ENST00000312960;ENST00000482706	T;T	0.26223	1.75;1.75	5.67	5.67	0.87782	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	M	0.88310	2.945	0.58432	D	0.999997	D	0.63880	0.993	D	0.66497	0.944	T	0.64597	-0.6370	10	0.56958	D	0.05	.	15.9206	0.79562	1.0:0.0:0.0:0.0	.	204	O43255	SIAH2_HUMAN	A	204;78	ENSP00000322457:V204A;ENSP00000417619:V78A	ENSP00000322457:V204A	V	-	2	0	SIAH2	151942982	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.320000	0.96346	2.148000	0.66965	0.482000	0.46254	GTC		0.532	SIAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357697.1	NM_005067	
CLRN1	7401	broad.mit.edu	37	3	150645762	150645762	+	Silent	SNP	G	G	A	rs148752352	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:150645762G>A	ENST00000327047.1	-	3	950	c.660C>T	c.(658-660)gaC>gaT	p.D220D	CLRN1_ENST00000295911.2_Intron|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1_ENST00000328863.4_Silent_p.D233D	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	220					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)		p.D220D(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTGTTTCTGCGTCTTTAGATT	0.373													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18918	0.0		0.002	False		,,,				2504	0.0				p.D220D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C660T	3						.	G	,,	0,4406		0,0,2203	68.0	71.0	70.0		699,,660	-4.3	0.0	3	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron,coding-synonymous	CLRN1	NM_001195794.1,NM_052995.2,NM_174878.2	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	233/246,,220/233	150645762	2,13004	2203	4300	6503	152128452	SO:0001819	synonymous_variant	7401	exon3			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.660C>T	3.37:g.150645762G>A			152128452	NM_174878	D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	37	CCDS3153.1																																																																																				0.373	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1		
CAPN7	23473	broad.mit.edu	37	3	15260000	15260000	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:15260000A>C	ENST00000253693.2	+	4	643	c.390A>C	c.(388-390)aaA>aaC	p.K130N		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	130					positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)	p.K130N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CTGCTGATAAAGTCCTGCAAA	0.333																																					p.K130N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A390C	3						.						122.0	125.0	124.0					3																	15260000		2203	4300	6503	15235004	SO:0001583	missense	23473	exon4			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.390A>C	3.37:g.15260000A>C	ENSP00000253693:p.Lys130Asn		15235004	NM_014296		Missense_Mutation	SNP	ENST00000253693.2	37	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913181	0.33815	.	.	ENSG00000131375	ENST00000253693	T	0.70399	-0.48	6.17	1.38	0.22167	MIT (2);	0.509560	0.20868	N	0.084239	T	0.54549	0.1865	L	0.29908	0.895	0.26894	N	0.967266	B	0.09022	0.002	B	0.14578	0.011	T	0.44590	-0.9318	10	0.32370	T	0.25	-27.7378	9.8058	0.40792	0.7367:0.0:0.2633:0.0	.	130	Q9Y6W3	CAN7_HUMAN	N	130	ENSP00000253693:K130N	ENSP00000253693:K130N	K	+	3	2	CAPN7	15235004	0.636000	0.27207	1.000000	0.80357	0.988000	0.76386	1.155000	0.31700	0.573000	0.29400	0.533000	0.62120	AAA		0.333	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296	
CLRN1	7401	broad.mit.edu	37	3	150645834	150645834	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:150645834A>C	ENST00000327047.1	-	3	878	c.588T>G	c.(586-588)ttT>ttG	p.F196L	CLRN1_ENST00000295911.2_Intron|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.3_ENST00000569170.1_Intron|CLRN1_ENST00000328863.4_Missense_Mutation_p.F209L	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	196					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)		p.F196L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AATGAACAAAAAAGCAAAAGA	0.358																																					p.F196L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T588G	3						.						77.0	81.0	80.0					3																	150645834		2203	4300	6503	152128524	SO:0001583	missense	7401	exon3			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.588T>G	3.37:g.150645834A>C	ENSP00000322280:p.Phe196Leu		152128524	NM_174878	D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	ENST00000327047.1	37	CCDS3153.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222339	0.58560	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	T;T	0.63913	-0.07;-0.07	5.91	-2.09	0.07232	.	0.217882	0.51477	D	0.000085	T	0.45677	0.1354	L	0.47716	1.5	0.39462	D	0.967581	P	0.38280	0.625	B	0.38156	0.266	T	0.47787	-0.9090	10	0.08179	T	0.78	-2.531	9.6557	0.39925	0.3558:0.0:0.5317:0.1124	.	196	P58418	CLRN1_HUMAN	L	196;209	ENSP00000322280:F196L;ENSP00000329158:F209L	ENSP00000322280:F196L	F	-	3	2	CLRN1	152128524	0.998000	0.40836	0.984000	0.44739	0.982000	0.71751	0.467000	0.22035	-0.297000	0.08934	0.533000	0.62120	TTT		0.358	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1		
GPR171	29909	broad.mit.edu	37	3	150917160	150917160	+	Missense_Mutation	SNP	G	G	A	rs560925200		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:150917160G>A	ENST00000309180.5	-	3	244	c.14C>T	c.(13-15)tCg>tTg	p.S5L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	5					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S5L(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGAAGAACGAACTGTTTGT	0.348													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18821	0.0		0.0	False		,,,				2504	0.0				p.S5L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C14T	3						.						43.0	46.0	45.0					3																	150917160		2203	4298	6501	152399850	SO:0001583	missense	29909	exon3			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.14C>T	3.37:g.150917160G>A	ENSP00000308479:p.Ser5Leu		152399850	NM_013308	D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198271	0.22037	.	.	ENSG00000174946	ENST00000309180;ENST00000480322	T	0.34275	1.37	5.54	5.54	0.83059	.	0.168364	0.38720	N	0.001590	T	0.17152	0.0412	N	0.08118	0	0.26280	N	0.978296	P	0.39737	0.685	B	0.26864	0.074	T	0.14643	-1.0465	10	0.39692	T	0.17	-15.8402	14.6802	0.69012	0.0712:0.0:0.9288:0.0	.	5	O14626	GP171_HUMAN	L	5	ENSP00000308479:S5L	ENSP00000308479:S5L	S	-	2	0	GPR171	152399850	0.112000	0.22096	0.913000	0.36048	0.901000	0.52897	1.104000	0.31074	2.607000	0.88179	0.655000	0.94253	TCG		0.348	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308	
CAPN7	23473	broad.mit.edu	37	3	15287058	15287058	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:15287058A>G	ENST00000253693.2	+	17	2143	c.1890A>G	c.(1888-1890)ggA>ggG	p.G630G		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	630	Domain III.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)	p.G630G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ACATTGATGGAATTCGAATTA	0.363																																					p.G630G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1890G	3						.						148.0	145.0	146.0					3																	15287058		2203	4300	6503	15262062	SO:0001819	synonymous_variant	23473	exon17			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1890A>G	3.37:g.15287058A>G			15262062	NM_014296		Silent	SNP	ENST00000253693.2	37	CCDS2624.1																																																																																				0.363	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296	
MED12L	116931	broad.mit.edu	37	3	151102860	151102860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:151102860C>T	ENST00000474524.1	+	34	4902	c.4864C>T	c.(4864-4866)Cga>Tga	p.R1622*	MED12L_ENST00000273432.4_Nonsense_Mutation_p.R1482*|P2RY12_ENST00000302632.3_5'Flank	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1622						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R1622*(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGACAAAGTTCGACAGTTACT	0.398																																					p.R1622X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4864T	3						.						129.0	127.0	128.0					3																	151102860		2203	4300	6503	152585550	SO:0001587	stop_gained	116931	exon34			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4864C>T	3.37:g.151102860C>T	ENSP00000417235:p.Arg1622*		152585550	NM_053002	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	47	13.269305	0.99731	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.63	5.63	0.86233	.	0.193564	0.46442	D	0.000296	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.178	19.3047	0.94157	0.0:1.0:0.0:0.0	.	.	.	.	X	1622;1482	.	ENSP00000273432:R1482X	R	+	1	2	MED12L	152585550	1.000000	0.71417	0.970000	0.41538	0.967000	0.64934	4.947000	0.63583	2.652000	0.90054	0.655000	0.94253	CGA		0.398	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
IGSF10	285313	broad.mit.edu	37	3	151163622	151163622	+	Missense_Mutation	SNP	C	C	T	rs372469513		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:151163622C>T	ENST00000282466.3	-	4	4146	c.4147G>A	c.(4147-4149)Gaa>Aaa	p.E1383K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1383					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.E1383K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTGAAGTTTCGGCTGTGGTT	0.463																																					p.E1383K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4147A	3						.	C	LYS/GLU	0,4406		0,0,2203	173.0	167.0	169.0		4147	0.8	0.0	3		169	2,8598	2.2+/-6.3	0,2,4298	no	missense	IGSF10	NM_178822.4	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1383/2624	151163622	2,13004	2203	4300	6503	152646312	SO:0001583	missense	285313	exon4			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4147G>A	3.37:g.151163622C>T	ENSP00000282466:p.Glu1383Lys		152646312	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	8.576	0.881262	0.17467	0.0	2.33E-4	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.68331	-0.32	5.04	0.815	0.18763	.	0.976572	0.08366	N	0.956874	T	0.42108	0.1188	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.25916	-1.0118	10	0.33141	T	0.24	.	5.4413	0.16511	0.0:0.5795:0.1464:0.2742	.	1383	Q6WRI0	IGS10_HUMAN	K	1383;10	ENSP00000282466:E1383K	ENSP00000282466:E1383K	E	-	1	0	IGSF10	152646312	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.077000	0.14738	0.574000	0.29417	0.591000	0.81541	GAA		0.463	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF10	285313	broad.mit.edu	37	3	151164707	151164707	+	Missense_Mutation	SNP	C	C	T	rs35114212	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:151164707C>T	ENST00000282466.3	-	4	3061	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1021					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R1021Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGATAATCCGCCCCCTTCC	0.473																																					p.R1021Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3062A	3						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	77.0	76.0		3062	3.6	0.0	3	dbSNP_126	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGSF10	NM_178822.4	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1021/2624	151164707	2,13004	2203	4300	6503	152647397	SO:0001583	missense	285313	exon4			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3062G>A	3.37:g.151164707C>T	ENSP00000282466:p.Arg1021Gln		152647397	NM_178822	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358254	0.41801	2.27E-4	1.16E-4	ENSG00000152580	ENST00000282466	T	0.75704	-0.96	5.46	3.6	0.41247	.	0.000000	0.42821	D	0.000651	T	0.56558	0.1993	L	0.36672	1.1	0.09310	N	1	P	0.41159	0.74	B	0.26969	0.075	T	0.53063	-0.8491	10	0.66056	D	0.02	.	8.8832	0.35387	0.0:0.7369:0.1239:0.1392	rs35114212	1021	Q6WRI0	IGS10_HUMAN	Q	1021	ENSP00000282466:R1021Q	ENSP00000282466:R1021Q	R	-	2	0	IGSF10	152647397	0.822000	0.29219	0.014000	0.15608	0.012000	0.07955	2.017000	0.40981	0.623000	0.30267	0.591000	0.81541	CGG		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IGSF10	285313	broad.mit.edu	37	3	151166575	151166575	+	Silent	SNP	C	C	T	rs146034413	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:151166575C>T	ENST00000282466.3	-	4	1193	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	398					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.P398P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATAGAGCTGCGGTGTTTCAC	0.428													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21118	0.0		0.0	False		,,,				2504	0.001				p.P398P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1194A	3						.	C		8,4398	14.3+/-33.2	0,8,2195	80.0	75.0	77.0		1194	-8.9	0.0	3	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	IGSF10	NM_178822.4		0,8,6495	TT,TC,CC		0.0,0.1816,0.0615		398/2624	151166575	8,12998	2203	4300	6503	152649265	SO:0001819	synonymous_variant	285313	exon4			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1194G>A	3.37:g.151166575C>T			152649265	NM_178822	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																				0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
AADAC	13	broad.mit.edu	37	3	151545407	151545407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:151545407C>T	ENST00000232892.7	+	5	773	c.647C>T	c.(646-648)tCt>tTt	p.S216F	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	216					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S216F(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AAGATCCAGTCTTTAATTTAT	0.343																																					p.S216F	Ovarian(30;839 841 2699 32801 46334)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C647T	3						.						81.0	80.0	80.0					3																	151545407		2203	4300	6503	153028097	SO:0001583	missense	13	exon5			L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.647C>T	3.37:g.151545407C>T	ENSP00000232892:p.Ser216Phe		153028097	NM_001086	A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620912	0.28889	.	.	ENSG00000114771	ENST00000232892	T	0.57273	0.41	4.81	1.97	0.26223	Alpha/beta hydrolase fold-3 (1);	0.629622	0.16824	N	0.198024	T	0.48370	0.1496	N	0.13140	0.3	0.23150	N	0.998216	B	0.29552	0.248	P	0.50049	0.629	T	0.54118	-0.8341	10	0.87932	D	0	-10.0828	6.6751	0.23090	0.0:0.5527:0.2485:0.1988	.	216	P22760	AAAD_HUMAN	F	216	ENSP00000232892:S216F	ENSP00000232892:S216F	S	+	2	0	AADAC	153028097	0.002000	0.14202	0.410000	0.26471	0.324000	0.28378	0.234000	0.17930	0.087000	0.17167	-0.218000	0.12543	TCT		0.343	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086	
MBNL1	4154	broad.mit.edu	37	3	152163204	152163204	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:152163204G>A	ENST00000463374.1	+	4	1194	c.683G>A	c.(682-684)aGa>aAa	p.R228K	MBNL1_ENST00000493459.1_Missense_Mutation_p.R171K|MBNL1_ENST00000324210.5_Missense_Mutation_p.R228K|MBNL1_ENST00000498502.1_Missense_Mutation_p.R228K|MBNL1_ENST00000282488.7_Missense_Mutation_p.R160K|MBNL1_ENST00000324196.5_Missense_Mutation_p.R228K|MBNL1_ENST00000357472.3_Missense_Mutation_p.R228K|MBNL1_ENST00000485509.1_Missense_Mutation_p.R228K|MBNL1_ENST00000545754.1_Missense_Mutation_p.R160K|MBNL1_ENST00000355460.2_Missense_Mutation_p.R228K|MBNL1_ENST00000282486.6_Missense_Mutation_p.R228K|MBNL1_ENST00000492948.1_Missense_Mutation_p.R228K|MBNL1_ENST00000485910.1_Missense_Mutation_p.R160K	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	228					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R228K(1)|p.R160K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAAAGGGAGATGCTCTCGG	0.483																																					p.R228K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G683A	3						.						130.0	114.0	119.0					3																	152163204		2203	4300	6503	153645894	SO:0001583	missense	4154	exon4			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.683G>A	3.37:g.152163204G>A	ENSP00000418108:p.Arg228Lys		153645894	NM_207293	E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	ENST00000463374.1	37	CCDS3165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.496184|5.496184	0.96355|0.96355	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000493459;ENST00000324210;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509;ENST00000478535	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.40476	.|1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Zinc finger, CCCH-type (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64627|0.64627	0.2615|0.2615	M|M	0.67700|0.67700	2.07|2.07	0.80722|0.80722	D|D	1|1	.|P;P;D;P;P;D;P;P;P	.|0.63880	.|0.938;0.715;0.993;0.923;0.812;0.969;0.765;0.938;0.534	.|P;B;D;P;P;P;B;P;B	.|0.77557	.|0.695;0.349;0.99;0.832;0.674;0.867;0.376;0.81;0.33	T|T	0.63337|0.63337	-0.6660|-0.6660	5|10	.|0.45353	.|T	.|0.12	.|.	19.2234|19.2234	0.93808|0.93808	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|228;228;160;160;228;228;171;228;228	.|C9JP00;E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.|.;.;.;.;MBNL1_HUMAN;.;.;.;.	N|K	227|228;160;228;171;228;136;228;228;160;228;160;228;160;228;228;131	.|ENSP00000282486:R228K;ENSP00000282488:R160K;ENSP00000347637:R228K;ENSP00000419347:R171K;ENSP00000319429:R228K;ENSP00000420680:R136K;ENSP00000420327:R228K;ENSP00000319374:R228K;ENSP00000437491:R160K;ENSP00000350064:R228K;ENSP00000418427:R160K;ENSP00000418108:R228K;ENSP00000417630:R160K;ENSP00000420103:R228K;ENSP00000418876:R228K;ENSP00000418508:R131K	.|ENSP00000282486:R228K	D|R	+|+	1|2	0|0	MBNL1|MBNL1	153645894|153645894	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.731000|9.731000	0.98807|0.98807	2.534000|2.534000	0.85438|0.85438	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.483	MBNL1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353604.1	NM_021038	
HACL1	26061	broad.mit.edu	37	3	15610010	15610010	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:15610010G>A	ENST00000321169.5	-	13	1546	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	HACL1_ENST00000435217.2_Silent_p.F152F|HACL1_ENST00000456194.2_Silent_p.F366F|HACL1_ENST00000457447.2_Silent_p.F333F|HACL1_ENST00000451445.2_Silent_p.F311F	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	393					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)	p.F393F(1)		NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CACTTACCACGAAACAGTCTC	0.403																																					p.F393F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1179T	3						.						195.0	169.0	178.0					3																	15610010		2203	4300	6503	15585014	SO:0001819	synonymous_variant	26061	exon13			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1179C>T	3.37:g.15610010G>A			15585014	NM_012260	B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Silent	SNP	ENST00000321169.5	37	CCDS2627.1																																																																																				0.403	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260	
ARHGEF26	26084	broad.mit.edu	37	3	153958175	153958175	+	Missense_Mutation	SNP	G	G	A	rs571135932		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:153958175G>A	ENST00000356448.4	+	12	2391	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.V703I|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	703	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V703I(2)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGTTACAACGTCAATGATTA	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21369	0.0		0.0	False		,,,				2504	0.0				p.V703I	GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2107A	3						.						83.0	77.0	79.0					3																	153958175		1876	4115	5991	155440865	SO:0001583	missense	26084	exon12			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.2107G>A	3.37:g.153958175G>A	ENSP00000348828:p.Val703Ile		155440865	NM_015595	B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387630	0.82902	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.75477	-0.94;-0.94	5.5	5.5	0.81552	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87313	0.6146	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.993;0.995	D	0.88461	0.3055	10	0.72032	D	0.01	-24.2837	18.9842	0.92764	0.0:0.0:1.0:0.0	.	703;703	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	I	703	ENSP00000348828:V703I;ENSP00000423418:V703I	ENSP00000348828:V703I	V	+	1	0	ARHGEF26	155440865	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	8.181000	0.89696	2.579000	0.87056	0.655000	0.94253	GTC		0.388	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595	
PLCH1	23007	broad.mit.edu	37	3	155199199	155199199	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:155199199C>T	ENST00000340059.7	-	23	4639	c.4640G>A	c.(4639-4641)cGg>cAg	p.R1547Q	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1509Q|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.R1509Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1509Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1547					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.R1509Q(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CACAAGCTTCCGAAGCTGCTC	0.488																																					p.R1547Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4640A	3						.						66.0	69.0	68.0					3																	155199199		2203	4300	6503	156681893	SO:0001583	missense	23007	exon23			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4640G>A	3.37:g.155199199C>T	ENSP00000345988:p.Arg1547Gln		156681893	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147964	0.94603	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.38077	1.16;1.17;1.16;1.16	5.26	5.26	0.73747	.	0.300312	0.30869	N	0.008718	T	0.62901	0.2466	M	0.74647	2.275	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.67086	-0.5759	10	0.87932	D	0	.	18.8629	0.92280	0.0:1.0:0.0:0.0	.	1509;1547	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Q	1509;1547;1509;1509	ENSP00000417502:R1509Q;ENSP00000345988:R1547Q;ENSP00000335469:R1509Q;ENSP00000412977:R1509Q	ENSP00000335469:R1509Q	R	-	2	0	PLCH1	156681893	1.000000	0.71417	0.932000	0.37286	0.949000	0.60115	5.628000	0.67791	2.428000	0.82296	0.650000	0.86243	CGG		0.488	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
SLC33A1	9197	broad.mit.edu	37	3	155546119	155546119	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:155546119A>G	ENST00000392845.3	-	6	1910	c.1530T>C	c.(1528-1530)taT>taC	p.Y510Y	SLC33A1_ENST00000359479.3_Silent_p.Y510Y			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	510					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.Y510Y(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACTCCACATAATAACCATCCA	0.338																																					p.Y510Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1530C	3						.						60.0	60.0	60.0					3																	155546119		2203	4297	6500	157028813	SO:0001819	synonymous_variant	9197	exon6			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1530T>C	3.37:g.155546119A>G			157028813	NM_004733	B2R5Q2|D3DNK4	Silent	SNP	ENST00000392845.3	37	CCDS3173.1																																																																																				0.338	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733	
TIPARP	25976	broad.mit.edu	37	3	156395884	156395884	+	Missense_Mutation	SNP	G	G	A	rs147956353		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:156395884G>A	ENST00000461166.1	+	2	986	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	TIPARP_ENST00000295924.7_Missense_Mutation_p.R133Q|TIPARP_ENST00000542783.1_Missense_Mutation_p.R133Q|TIPARP_ENST00000486483.1_Missense_Mutation_p.R133Q	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	133					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R133Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCTCCAGAACGAGTGGTTCCA	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20005	0.0		0.001	False		,,,				2504	0.0				p.R133Q	Ovarian(171;276 1987 3319 6837 11197)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G398A	3						.	G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	102.0	103.0	103.0		398,398,398	2.7	0.8	3	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	TIPARP	NM_001184717.1,NM_001184718.1,NM_015508.4	43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	133/658,133/658,133/658	156395884	1,13005	2203	4300	6503	157878578	SO:0001583	missense	25976	exon2			BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.398G>A	3.37:g.156395884G>A	ENSP00000420612:p.Arg133Gln		157878578	NM_015508	D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	CCDS3177.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.515	-0.548414	0.04024	0.0	1.16E-4	ENSG00000163659	ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	T;T;T;T;T;T	0.20200	3.08;3.08;3.08;2.09;3.08;3.08	5.11	2.69	0.31865	.	0.501234	0.20537	N	0.090395	T	0.06600	0.0169	N	0.02539	-0.55	0.19300	N	0.999972	B	0.02656	0.0	B	0.01281	0.0	T	0.41052	-0.9530	10	0.02654	T	1	.	9.4407	0.38666	0.852:0.0:0.148:0.0	.	133	Q7Z3E1	PARPT_HUMAN	Q	133	ENSP00000418757:R133Q;ENSP00000295924:R133Q;ENSP00000420612:R133Q;ENSP00000419982:R133Q;ENSP00000418829:R133Q;ENSP00000438345:R133Q	ENSP00000295924:R133Q	R	+	2	0	TIPARP	157878578	1.000000	0.71417	0.843000	0.33291	0.805000	0.45488	3.382000	0.52463	0.279000	0.22186	-0.414000	0.06135	CGA		0.498	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508	
LEKR1	389170	broad.mit.edu	37	3	156763234	156763234	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:156763234C>T	ENST00000470811.1	+	14	2197	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	LEKR1_ENST00000356539.4_Missense_Mutation_p.R592C			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	288								p.R288C(1)|p.R592C(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGTAAGCTTCGTGGAAGTTT	0.502																																					p.R592C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1774T	3						.						92.0	93.0	93.0					3																	156763234		2203	4300	6503	158245928	SO:0001583	missense	389170	exon13			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.862C>T	3.37:g.156763234C>T	ENSP00000418214:p.Arg288Cys		158245928	NM_001004316		Missense_Mutation	SNP	ENST00000470811.1	37		.	.	.	.	.	.	.	.	.	.	C	10.58	1.389723	0.25118	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.46451	0.87;0.87	4.96	-3.3	0.05003	.	0.726466	0.13246	N	0.402435	T	0.16471	0.0396	N	0.08118	0	0.09310	N	0.999999	B	0.33637	0.42	B	0.31751	0.135	T	0.12016	-1.0564	10	0.56958	D	0.05	2.7771	2.9605	0.05890	0.467:0.1113:0.3161:0.1055	.	288	Q6ZMV7	LEKR1_HUMAN	C	288;592	ENSP00000418214:R288C;ENSP00000348936:R592C	ENSP00000348936:R592C	R	+	1	0	LEKR1	158245928	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	-0.518000	0.06267	-0.592000	0.05851	-1.072000	0.02254	CGT		0.502	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316	
VEPH1	79674	broad.mit.edu	37	3	157146114	157146114	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:157146114G>A	ENST00000362010.2	-	5	1000	c.693C>T	c.(691-693)ctC>ctT	p.L231L	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Silent_p.L231L|VEPH1_ENST00000392833.2_Silent_p.L231L|VEPH1_ENST00000543418.1_Silent_p.L231L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	231						plasma membrane (GO:0005886)		p.L231L(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTTACCTCGAGTTGTTTTT	0.438																																					p.L231L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693T	3						.						159.0	146.0	151.0					3																	157146114		2203	4300	6503	158628808	SO:0001819	synonymous_variant	79674	exon5			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.693C>T	3.37:g.157146114G>A			158628808	NM_001167911	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	CCDS3179.1																																																																																				0.438	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
KPNA4	3840	broad.mit.edu	37	3	160253641	160253641	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:160253641A>G	ENST00000334256.4	-	3	464	c.159T>C	c.(157-159)caT>caC	p.H53H		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	53	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.H53H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGATATCTTCATGTGGTACAT	0.274																																					p.H53H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T159C	3						.						76.0	73.0	74.0					3																	160253641		2201	4293	6494	161736335	SO:0001819	synonymous_variant	3840	exon3			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.159T>C	3.37:g.160253641A>G			161736335	NM_002268	A8K4S6|D3DNM2|O00190	Silent	SNP	ENST00000334256.4	37	CCDS3191.1																																																																																				0.274	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268	
GALNT15	117248	broad.mit.edu	37	3	16261032	16261032	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:16261032C>A	ENST00000339732.5	+	7	2018	c.1515C>A	c.(1513-1515)ttC>ttA	p.F505L	GALNT15_ENST00000437509.1_Missense_Mutation_p.F505L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	505	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F505L(1)									GGCCCAGTTTCTCTGGAAAGG	0.537																																					p.F505L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1515A	3						.						206.0	196.0	199.0					3																	16261032		2203	4300	6503	16236036	SO:0001583	missense	117248	exon7			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1515C>A	3.37:g.16261032C>A	ENSP00000344260:p.Phe505Leu		16236036	NM_054110	A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403394	0.42613	.	.	ENSG00000131386	ENST00000339732;ENST00000437509;ENST00000543679	T;T	0.27720	1.65;1.65	5.64	5.64	0.86602	Ricin B-related lectin (1);	1931.590000	0.00357	U	0.000028	T	0.34803	0.0910	L	0.52126	1.63	0.31966	N	0.607777	B	0.09022	0.002	B	0.09377	0.004	T	0.23726	-1.0180	10	0.33141	T	0.24	.	10.3609	0.43994	0.1361:0.7927:0.0:0.0712	.	505	Q8N3T1	GLTL2_HUMAN	L	505;505;35	ENSP00000344260:F505L;ENSP00000395873:F505L	ENSP00000344260:F505L	F	+	3	2	GALNTL2	16236036	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	1.462000	0.35266	2.660000	0.90430	0.555000	0.69702	TTC		0.537	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110	
PPM1L	151742	broad.mit.edu	37	3	160679593	160679593	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:160679593G>T	ENST00000498165.1	+	2	570	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	PPM1L_ENST00000464260.1_5'UTR|PPM1L_ENST00000497343.1_Missense_Mutation_p.D157Y|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Missense_Mutation_p.D30Y	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	157	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.D157Y(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTACGAGAAAGACAAAGAAAA	0.393																																					p.D157Y	Pancreas(86;250 1994 13715 43211)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G469T	3						.						97.0	94.0	95.0					3																	160679593		2203	4300	6503	162162287	SO:0001583	missense	151742	exon2			AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.469G>T	3.37:g.160679593G>T	ENSP00000417659:p.Asp157Tyr		162162287	NM_139245	Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637357	0.67130	.	.	ENSG00000163590	ENST00000497343;ENST00000498165;ENST00000295839	T;T;T	0.18174	2.23;2.23;2.23	5.53	5.53	0.82687	Protein phosphatase 2C-like (5);	0.097141	0.64402	D	0.000001	T	0.17831	0.0428	N	0.25789	0.76	0.51012	D	0.999902	P;P	0.50528	0.936;0.467	P;B	0.44990	0.466;0.203	T	0.00926	-1.1512	10	0.41790	T	0.15	.	18.4568	0.90724	0.0:0.0:1.0:0.0	.	30;157	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	Y	157;157;30	ENSP00000420354:D157Y;ENSP00000417659:D157Y;ENSP00000295839:D30Y	ENSP00000295839:D30Y	D	+	1	0	PPM1L	162162287	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.729000	0.74775	2.614000	0.88457	0.557000	0.71058	GAC		0.393	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245	
NMD3	51068	broad.mit.edu	37	3	160942752	160942752	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:160942752A>C	ENST00000460469.1	+	2	534	c.79A>C	c.(79-81)Aat>Cat	p.N27H	NMD3_ENST00000472947.1_Missense_Mutation_p.N27H|NMD3_ENST00000351193.2_Missense_Mutation_p.N27H|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	27					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.N27H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GATAAGTCCAAATCCTGCCAA	0.343																																					p.N27H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A79C	3						.						168.0	160.0	163.0					3																	160942752		2203	4300	6503	162425446	SO:0001583	missense	51068	exon3			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.79A>C	3.37:g.160942752A>C	ENSP00000419004:p.Asn27His		162425446	NM_015938	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.808633	0.90707	.	.	ENSG00000169251	ENST00000468606;ENST00000460503;ENST00000493066;ENST00000351193;ENST00000472947;ENST00000463518;ENST00000476237;ENST00000460469	T;T;T;T;T;T;T;T	0.52526	0.7;0.71;0.73;0.68;0.66;0.73;0.74;0.68	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79131	0.4394	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.977	D	0.85807	0.1377	10	0.87932	D	0	-28.6486	15.8218	0.78654	1.0:0.0:0.0:0.0	.	27;27	C9JA08;Q96D46	.;NMD3_HUMAN	H	27	ENSP00000418852:N27H;ENSP00000418980:N27H;ENSP00000419030:N27H;ENSP00000307525:N27H;ENSP00000417559:N27H;ENSP00000418908:N27H;ENSP00000419647:N27H;ENSP00000419004:N27H	ENSP00000307525:N27H	N	+	1	0	NMD3	162425446	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.589000	0.90817	2.326000	0.78906	0.533000	0.62120	AAT		0.343	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	
OXNAD1	92106	broad.mit.edu	37	3	16343361	16343361	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:16343361G>A	ENST00000285083.5	+	7	1126	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	OXNAD1_ENST00000605932.1_Missense_Mutation_p.E221K|OXNAD1_ENST00000544043.1_Missense_Mutation_p.E239K|OXNAD1_ENST00000606098.1_Missense_Mutation_p.E221K|OXNAD1_ENST00000435829.2_Missense_Mutation_p.E239K	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	221						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)	p.E221K(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						AAATACCAGCGAACTCCTGTT	0.393																																					p.E221K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G661A	3						.						60.0	61.0	61.0					3																	16343361		2203	4300	6503	16318365	SO:0001583	missense	92106	exon7			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.661G>A	3.37:g.16343361G>A	ENSP00000285083:p.Glu221Lys		16318365	NM_138381	Q2HYC7|Q59FA4	Missense_Mutation	SNP	ENST00000285083.5	37	CCDS2630.1	.	.	.	.	.	.	.	.	.	.	G	33	5.281731	0.95489	.	.	ENSG00000154814	ENST00000285083;ENST00000544043	D;D	0.86562	-2.14;-2.14	5.67	5.67	0.87782	Oxidoreductase FAD/NAD(P)-binding (1);	0.000000	0.85682	D	0.000000	D	0.93956	0.8065	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	D	0.93476	0.6823	10	0.51188	T	0.08	-6.9139	19.7629	0.96329	0.0:0.0:1.0:0.0	.	239;221	F5H620;Q96HP4	.;OXND1_HUMAN	K	221;239	ENSP00000285083:E221K;ENSP00000437967:E239K	ENSP00000285083:E221K	E	+	1	0	OXNAD1	16318365	1.000000	0.71417	0.654000	0.29608	0.894000	0.52154	7.722000	0.84778	2.666000	0.90696	0.561000	0.74099	GAA		0.393	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381	
DAZL	1618	broad.mit.edu	37	3	16638305	16638305	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:16638305A>C	ENST00000399444.2	-	6	743	c.450T>G	c.(448-450)acT>acG	p.T150T	DAZL_ENST00000250863.8_Silent_p.T170T	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	150					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.T150T(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						GCTGCATATAAGTTTCAGTGT	0.398																																					p.T150T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T450G	3						.						195.0	191.0	192.0					3																	16638305		2081	4229	6310	16613309	SO:0001819	synonymous_variant	1618	exon6			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"""RNA binding motif (RRM) containing"""	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.450T>G	3.37:g.16638305A>C			16613309	NM_001351	O15396|Q5HYB4|Q92909	Silent	SNP	ENST00000399444.2	37	CCDS43059.1																																																																																				0.398	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351	
NMD3	51068	broad.mit.edu	37	3	160968616	160968616	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:160968616G>A	ENST00000460469.1	+	15	1885	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	NMD3_ENST00000472947.1_Missense_Mutation_p.R477Q|NMD3_ENST00000351193.2_Missense_Mutation_p.R477Q			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	477	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.R477Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GGAGCACCTCGAATTAGTCTG	0.378																																					p.R477Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1430A	3						.						129.0	110.0	117.0					3																	160968616		2203	4300	6503	162451310	SO:0001583	missense	51068	exon16			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1430G>A	3.37:g.160968616G>A	ENSP00000419004:p.Arg477Gln		162451310	NM_015938	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	ENST00000460469.1	37	CCDS3194.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399743	0.25291	.	.	ENSG00000169251	ENST00000351193;ENST00000472947;ENST00000460469;ENST00000540137	T;T;T	0.23147	1.92;1.92;1.92	5.01	5.01	0.66863	.	0.228672	0.38720	N	0.001583	T	0.15262	0.0368	N	0.16567	0.415	0.49798	D	0.999822	B;B	0.17465	0.022;0.014	B;B	0.08055	0.003;0.003	T	0.05920	-1.0856	10	0.02654	T	1	-31.5533	17.681	0.88243	0.0:0.0:1.0:0.0	.	477;477	C9JA08;Q96D46	.;NMD3_HUMAN	Q	477;477;477;357	ENSP00000307525:R477Q;ENSP00000417559:R477Q;ENSP00000419004:R477Q	ENSP00000307525:R477Q	R	+	2	0	NMD3	162451310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.850000	0.62889	2.495000	0.84180	0.655000	0.94253	CGA		0.378	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	
SI	6476	broad.mit.edu	37	3	164697167	164697167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:164697167C>A	ENST00000264382.3	-	48	5529	c.5467G>T	c.(5467-5469)Gaa>Taa	p.E1823*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1823	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.E1823*(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAGTTGATTTCTATTGGTTCT	0.313										HNSCC(35;0.089)																											p.E1823X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G5467T	3						.						167.0	165.0	166.0					3																	164697167		2203	4300	6503	166179861	SO:0001587	stop_gained	6476	exon48			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5467G>T	3.37:g.164697167C>A	ENSP00000264382:p.Glu1823*		166179861	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	39	7.814638	0.98504	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.34	1.28	0.21552	.	11.875300	0.00357	N	0.000032	.	.	.	.	.	.	0.45883	D	0.998734	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	6.7861	0.23673	0.0:0.4243:0.4701:0.1056	.	.	.	.	X	1823	.	ENSP00000264382:E1823X	E	-	1	0	SI	166179861	0.971000	0.33674	0.644000	0.29465	0.077000	0.17291	0.095000	0.15127	0.107000	0.17824	0.585000	0.79938	GAA		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SI	6476	broad.mit.edu	37	3	164767589	164767589	+	Silent	SNP	C	C	T	rs531422962		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:164767589C>T	ENST00000264382.3	-	14	1649	c.1587G>A	c.(1585-1587)ccG>ccA	p.P529P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	529	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P529P(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAGGAGTAAACGGTGGATAAT	0.274										HNSCC(35;0.089)			C|||	1	0.000199681	0.0	0.0	5008	,	,		13838	0.0		0.0	False		,,,				2504	0.001				p.P529P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1587A	3						.						87.0	97.0	94.0					3																	164767589		2203	4288	6491	166250283	SO:0001819	synonymous_variant	6476	exon14			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1587G>A	3.37:g.164767589C>T			166250283	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	CCDS3196.1																																																																																				0.274	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
SLITRK3	22865	broad.mit.edu	37	3	164907726	164907726	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:164907726G>A	ENST00000475390.1	-	2	1336	c.893C>T	c.(892-894)tCg>tTg	p.S298L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S298L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	298					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S298L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACTTGATGACGAATGTGGAAT	0.433										HNSCC(40;0.11)																											p.S298L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C893T	3						.						109.0	113.0	112.0					3																	164907726		2203	4300	6503	166390420	SO:0001583	missense	22865	exon2			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.893C>T	3.37:g.164907726G>A	ENSP00000420091:p.Ser298Leu		166390420	NM_014926	Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	0.795	-0.757535	0.03019	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54071	0.59;0.59	5.75	4.59	0.56863	.	0.338965	0.16623	N	0.206417	T	0.18341	0.0440	N	0.00268	-1.735	0.22954	N	0.998516	B	0.02656	0.0	B	0.01281	0.0	T	0.16867	-1.0388	10	0.21014	T	0.42	-4.5598	11.9582	0.52993	0.9319:0.0:0.0681:0.0	.	298	O94933	SLIK3_HUMAN	L	298	ENSP00000420091:S298L;ENSP00000241274:S298L	ENSP00000241274:S298L	S	-	2	0	SLITRK3	166390420	1.000000	0.71417	0.937000	0.37676	0.040000	0.13550	7.174000	0.77620	1.004000	0.39156	-0.294000	0.09567	TCG		0.433	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926	
ZBBX	79740	broad.mit.edu	37	3	167045890	167045890	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:167045890C>T	ENST00000392766.2	-	11	1042	c.702G>A	c.(700-702)acG>acA	p.T234T	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Silent_p.T234T|ZBBX_ENST00000392767.2_Silent_p.T234T|ZBBX_ENST00000307529.5_Silent_p.T234T|ZBBX_ENST00000392764.1_Silent_p.T205T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	234						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T234T(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTCTTTTCATCGTTGTAATTT	0.328																																					p.T234T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G702A	3						.						183.0	164.0	170.0					3																	167045890		1846	4094	5940	168528584	SO:0001819	synonymous_variant	79740	exon11			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.702G>A	3.37:g.167045890C>T			168528584	NM_024687	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	CCDS3199.2																																																																																				0.328	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
SERPINI2	5276	broad.mit.edu	37	3	167164207	167164207	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:167164207G>T	ENST00000476257.1	-	9	1412	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	SERPINI2_ENST00000264677.4_Missense_Mutation_p.L372M|SERPINI2_ENST00000471111.1_Missense_Mutation_p.L372M|SERPINI2_ENST00000461846.1_Missense_Mutation_p.L372M			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	372					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L372M(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATAATAAACAGAAATGGATGA	0.343																																					p.L372M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1114A	3						.						108.0	119.0	116.0					3																	167164207		2203	4298	6501	168646901	SO:0001583	missense	5276	exon8			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.1114C>A	3.37:g.167164207G>T	ENSP00000420621:p.Leu372Met		168646901	NM_006217		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579063	0.28180	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.61	2.41	0.29592	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.069624	0.64402	D	0.000016	D	0.90776	0.7104	M	0.62209	1.925	0.33766	D	0.622494	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92121	0.5704	10	0.72032	D	0.01	.	9.8174	0.40860	0.2691:0.0:0.7309:0.0	.	372;372	B4DDY9;O75830	.;SPI2_HUMAN	M	372	ENSP00000420621:L372M;ENSP00000417692:L372M;ENSP00000264677:L372M;ENSP00000419407:L372M	ENSP00000264677:L372M	L	-	1	2	SERPINI2	168646901	1.000000	0.71417	1.000000	0.80357	0.156000	0.22039	0.842000	0.27627	0.728000	0.32382	-0.145000	0.13849	CTG		0.343	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	
WDR49	151790	broad.mit.edu	37	3	167223188	167223188	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:167223188C>A	ENST00000308378.3	-	13	2040	c.1735G>T	c.(1735-1737)Gat>Tat	p.D579Y	WDR49_ENST00000453925.2_Missense_Mutation_p.D544Y|WDR49_ENST00000476376.1_Missense_Mutation_p.D404Y|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	579								p.D579Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAATTTATATCTTCTGATGGT	0.299																																					p.D579Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1735T	3						.						28.0	32.0	31.0					3																	167223188		2175	4259	6434	168705882	SO:0001583	missense	151790	exon13			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1735G>T	3.37:g.167223188C>A	ENSP00000311343:p.Asp579Tyr		168705882	NM_178824	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.592|8.592	0.884814|0.884814	0.17540|0.17540	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.54071|.	0.59;1.89;0.94|.	5.0|5.0	2.75|2.75	0.32379|0.32379	.|.	0.388152|.	0.25732|.	N|.	0.028672|.	T|T	0.25269|0.25269	0.0614|0.0614	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P;P|.	0.41748|.	0.553;0.761|.	B;B|.	0.38712|.	0.28;0.275|.	T|T	0.16424|0.16424	-1.0403|-1.0403	10|5	0.87932|.	D|.	0|.	.|.	4.3733|4.3733	0.11258|0.11258	0.0:0.6216:0.2288:0.1496|0.0:0.6216:0.2288:0.1496	.|.	544;579|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	Y|N	579;404;544|555	ENSP00000311343:D579Y;ENSP00000420508:D404Y;ENSP00000410863:D544Y|.	ENSP00000311343:D579Y|.	D|K	-|-	1|3	0|2	WDR49|WDR49	168705882|168705882	0.892000|0.892000	0.30473|0.30473	0.271000|0.271000	0.24616|0.24616	0.762000|0.762000	0.43233|0.43233	0.769000|0.769000	0.26604|0.26604	1.186000|1.186000	0.42985|0.42985	0.655000|0.655000	0.94253|0.94253	GAT|AAG		0.299	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
PLCL2	23228	broad.mit.edu	37	3	17051510	17051510	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:17051510G>T	ENST00000418129.2	+	2	759	c.294G>T	c.(292-294)gaG>gaT	p.E98D	PLCL2_ENST00000432376.1_Missense_Mutation_p.E98D|PLCL2_ENST00000396755.2_Missense_Mutation_p.E98D|PLCL2_ENST00000460467.1_3'UTR	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	224					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E98D(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TATATGGAGAGAATTATGAGT	0.418																																					p.R218I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G653T	3						.						121.0	121.0	121.0					3																	17051510		2203	4300	6503	17026514	SO:0001583	missense	23228	exon3			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.294G>T	3.37:g.17051510G>T	ENSP00000409637:p.Glu98Asp		17026514	NM_001144382	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226413	0.01518	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.61510	0.1;0.1;0.1	5.33	1.98	0.26296	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.045321	0.85682	D	0.000000	T	0.31918	0.0812	.	.	.	0.45867	D	0.998722	B;B	0.06786	0.001;0.001	B;B	0.12156	0.005;0.007	T	0.05338	-1.0891	9	0.10111	T	0.7	.	5.2822	0.15682	0.368:0.0:0.5014:0.1305	.	224;98	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	D	98;225;98;98	ENSP00000409637:E98D;ENSP00000379979:E98D;ENSP00000412836:E98D	ENSP00000285094:E225D	E	+	3	2	PLCL2	17026514	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.019000	0.30014	0.402000	0.25451	-0.258000	0.10820	GAG		0.418	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3		
GOLIM4	27333	broad.mit.edu	37	3	167728167	167728167	+	Nonsense_Mutation	SNP	G	G	A	rs139759842	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:167728167G>A	ENST00000470487.1	-	16	2670	c.1981C>T	c.(1981-1983)Cga>Tga	p.R661*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.R633*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	661	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R661*(2)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TTGTCATCTCGAACTTCTTGC	0.398													G|||	4	0.000798722	0.0023	0.0	5008	,	,		15402	0.001		0.0	False		,,,				2504	0.0				p.R661X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1981T	3						.	G	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	136.0	133.0	134.0		1981	4.6	0.0	3	dbSNP_134	134	0,8600		0,0,4300	yes	stop-gained	GOLIM4	NM_014498.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		661/697	167728167	3,13003	2203	4300	6503	169210861	SO:0001587	stop_gained	27333	exon16			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1981C>T	3.37:g.167728167G>A	ENSP00000417354:p.Arg661*		169210861	NM_014498		Nonsense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	40	8.101808	0.98654	6.81E-4	0.0	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.45	4.57	0.56435	.	0.518771	0.21663	N	0.070988	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-0.6558	14.2525	0.66028	0.0:0.0:0.8506:0.1494	.	.	.	.	X	661;633	.	ENSP00000309893:R633X	R	-	1	2	GOLIM4	169210861	0.161000	0.22892	0.004000	0.12327	0.058000	0.15608	3.318000	0.51975	1.413000	0.46997	0.644000	0.83932	CGA		0.398	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
MECOM	2122	broad.mit.edu	37	3	168840424	168840424	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:168840424G>A	ENST00000464456.1	-	5	1558	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	MECOM_ENST00000468789.1_Missense_Mutation_p.R120C|MECOM_ENST00000460814.1_Missense_Mutation_p.R120C|MECOM_ENST00000433243.2_Missense_Mutation_p.R120C|MECOM_ENST00000264674.3_Missense_Mutation_p.R184C|MECOM_ENST00000472280.1_Missense_Mutation_p.R120C|MECOM_ENST00000392736.3_Missense_Mutation_p.R120C|MECOM_ENST00000494292.1_Missense_Mutation_p.R308C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0			P -> S (in dbSNP:rs7622799).		regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R120C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCTGGTGGCGAATTAAATTG	0.438																																					p.R184C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C550T	3						.						234.0	194.0	208.0					3																	168840424		2203	4300	6503	170323118	SO:0001583	missense	2122	exon6			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.358C>T	3.37:g.168840424G>A	ENSP00000419770:p.Arg120Cys		170323118	NM_001105077	Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902001	0.92035	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586;ENST00000484519	T;T;T;T;T;T;T;T;T;T	0.31247	2.3;2.32;2.32;2.3;2.92;2.32;2.32;2.3;2.32;1.5	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.206207	0.34603	N	0.003829	T	0.58495	0.2126	M	0.75150	2.29	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;P;D;D;D	0.69824	0.966;0.897;0.926;0.942;0.966	T	0.60707	-0.7210	10	0.87932	D	0	-9.6786	19.7826	0.96422	0.0:0.0:1.0:0.0	.	308;120;308;184;120	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	C	184;120;120;120;308;120;120;120;95;120	ENSP00000264674:R184C;ENSP00000376493:R120C;ENSP00000419770:R120C;ENSP00000420048:R120C;ENSP00000417899:R308C;ENSP00000419995:R120C;ENSP00000420466:R120C;ENSP00000394302:R120C;ENSP00000417506:R95C;ENSP00000417299:R120C	ENSP00000264674:R184C	R	-	1	0	MECOM	170323118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.680000	0.91292	0.655000	0.94253	CGC		0.438	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
PLCL2	23228	broad.mit.edu	37	3	17131289	17131289	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:17131289T>C	ENST00000418129.2	+	6	3356	c.2891T>C	c.(2890-2892)tTt>tCt	p.F964S	PLCL2_ENST00000432376.1_Missense_Mutation_p.F964S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1090					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.F964S(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAAATCCATTTTGCTGCTGTT	0.398																																					p.F964S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2891C	3						.						118.0	122.0	121.0					3																	17131289		2203	4300	6503	17106293	SO:0001583	missense	23228	exon6			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2891T>C	3.37:g.17131289T>C	ENSP00000409637:p.Phe964Ser		17106293	NM_015184	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508128	0.27036	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000432376	T;T	0.14766	2.48;2.48	5.91	-1.66	0.08265	.	0.481828	0.23528	N	0.047208	T	0.08935	0.0221	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26608	-1.0098	9	0.22109	T	0.4	.	13.0338	0.58859	0.4018:0.0:0.0:0.5982	.	1090	Q9UPR0	PLCL2_HUMAN	S	964;1091;964	ENSP00000409637:F964S;ENSP00000412836:F964S	ENSP00000285094:F1091S	F	+	2	0	PLCL2	17106293	1.000000	0.71417	0.958000	0.39756	0.911000	0.54048	2.143000	0.42187	-0.166000	0.10890	0.528000	0.53228	TTT		0.398	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3		
MYNN	55892	broad.mit.edu	37	3	169496638	169496638	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:169496638G>T	ENST00000349841.5	+	3	1012	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	MYNN_ENST00000356716.4_Missense_Mutation_p.D117Y|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000392733.1_Missense_Mutation_p.D117Y|MYNN_ENST00000544106.1_Missense_Mutation_p.D117Y	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	117					regulation of transcription, DNA-templated (GO:0006355)|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)	p.D117Y(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAAGATGGAAGATTTTGCTTT	0.358																																					p.D117Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G349T	3						.						83.0	87.0	86.0					3																	169496638		2203	4300	6503	170979332	SO:0001583	missense	55892	exon3			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.349G>T	3.37:g.169496638G>T	ENSP00000326240:p.Asp117Tyr		170979332	NM_018657	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072146	0.55646	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.10668	3.03;3.03;2.86;2.85	5.54	5.54	0.83059	BTB/POZ-like (1);BTB/POZ fold (1);	0.160000	0.43747	D	0.000536	T	0.29652	0.0740	L	0.60904	1.88	0.38450	D	0.946921	D;D	0.89917	1.0;1.0	D;D	0.87578	0.964;0.998	T	0.01848	-1.1261	10	0.87932	D	0	.	14.3497	0.66691	0.0:0.0:0.8519:0.1481	.	117;117	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	Y	117	ENSP00000349150:D117Y;ENSP00000326240:D117Y;ENSP00000376492:D117Y;ENSP00000440637:D117Y	ENSP00000326240:D117Y	D	+	1	0	MYNN	170979332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.121000	0.57904	2.616000	0.88540	0.650000	0.86243	GAT		0.358	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1	NM_018657	
GPR160	26996	broad.mit.edu	37	3	169802120	169802120	+	Nonsense_Mutation	SNP	T	T	G	rs371080313		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:169802120T>G	ENST00000355897.5	+	4	968	c.360T>G	c.(358-360)taT>taG	p.Y120*		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.Y120*(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GTATAGATTATTGCCTGAATT	0.294																																					p.Y120X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T360G	3						.						46.0	50.0	49.0					3																	169802120		2203	4299	6502	171284814	SO:0001587	stop_gained	26996	exon4			AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.360T>G	3.37:g.169802120T>G	ENSP00000348161:p.Tyr120*		171284814	NM_014373	D3DNQ2	Nonsense_Mutation	SNP	ENST00000355897.5	37	CCDS3211.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930170	0.34096	.	.	ENSG00000173890	ENST00000355897;ENST00000485735;ENST00000473675	.	.	.	5.8	-2.38	0.06622	.	0.224065	0.38326	N	0.001738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0301	0.30459	0.0:0.3858:0.1114:0.5027	.	.	.	.	X	120	.	ENSP00000348161:Y120X	Y	+	3	2	GPR160	171284814	1.000000	0.71417	0.187000	0.23214	0.009000	0.06853	0.833000	0.27504	-0.329000	0.08527	-1.166000	0.01754	TAT		0.294	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373	
SLC2A2	6514	broad.mit.edu	37	3	170723086	170723086	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:170723086G>A	ENST00000314251.3	-	7	1030	c.951C>T	c.(949-951)tcC>tcT	p.S317S	SLC2A2_ENST00000382808.4_Silent_p.S198S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	317	Monosaccharide binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.S317S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	CATTGATTCCGGAAAATTGCT	0.423																																					p.S317S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C951T	3						.						171.0	160.0	164.0					3																	170723086		2203	4300	6503	172205780	SO:0001819	synonymous_variant	6514	exon7			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.951C>T	3.37:g.170723086G>A			172205780	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	ENST00000314251.3	37	CCDS3215.1																																																																																				0.423	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340	
SLC2A2	6514	broad.mit.edu	37	3	170723778	170723778	+	Silent	SNP	G	G	T	rs200815600		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:170723778G>T	ENST00000314251.3	-	6	808	c.729C>A	c.(727-729)ccC>ccA	p.P243P	SLC2A2_ENST00000382808.4_Silent_p.P124P	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	243					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)	p.P243P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	AAAGGTATCTGGGGCTTTCTG	0.423																																					p.P243P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C729A	3						.						103.0	102.0	102.0					3																	170723778		2203	4299	6502	172206472	SO:0001819	synonymous_variant	6514	exon6			J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.729C>A	3.37:g.170723778G>T			172206472	NM_000340	A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	ENST00000314251.3	37	CCDS3215.1																																																																																				0.423	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340	
TBC1D5	9779	broad.mit.edu	37	3	17333465	17333465	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:17333465G>A	ENST00000253692.7	-	15	2831	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	TBC1D5_ENST00000429924.2_Silent_p.L341L|TBC1D5_ENST00000429383.4_Silent_p.L389L|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Silent_p.L389L	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	389						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.L389L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TCAGAAGGCCGAGACAGGTCT	0.383																																					p.L389L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167T	3						.						86.0	84.0	85.0					3																	17333465		2203	4300	6503	17308469	SO:0001819	synonymous_variant	9779	exon15			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1167C>T	3.37:g.17333465G>A			17308469	NM_001134380	A6NP25|C9JP52	Silent	SNP	ENST00000253692.7	37	CCDS33714.1																																																																																				0.383	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744	
PLD1	5337	broad.mit.edu	37	3	171455716	171455716	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:171455716G>A	ENST00000351298.4	-	2	252	c.126C>T	c.(124-126)taC>taT	p.Y42Y	PLD1_ENST00000342215.6_Silent_p.Y42Y|PLD1_ENST00000356327.5_Silent_p.Y42Y|PLD1_ENST00000340989.4_Silent_p.Y42Y	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	42					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.Y42Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GAGACACGTCGTAGTCTACCT	0.463																																					p.Y42Y	NSCLC(149;2174 3517 34058)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C126T	3						.						117.0	115.0	116.0					3																	171455716		2203	4300	6503	172938410	SO:0001819	synonymous_variant	5337	exon2			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.126C>T	3.37:g.171455716G>A			172938410	NM_001130081		Silent	SNP	ENST00000351298.4	37	CCDS3216.1																																																																																				0.463	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662	
FNDC3B	64778	broad.mit.edu	37	3	172046819	172046819	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:172046819A>G	ENST00000336824.4	+	12	1431	c.1332A>G	c.(1330-1332)gcA>gcG	p.A444A	FNDC3B_ENST00000415807.2_Silent_p.A444A|FNDC3B_ENST00000416957.1_Silent_p.A444A	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	444	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.A444A(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTTGTCCGGCAATGGGGTACA	0.473																																					p.A444A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1332G	3						.						142.0	136.0	138.0					3																	172046819		2203	4300	6503	173529513	SO:0001819	synonymous_variant	64778	exon12			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1332A>G	3.37:g.172046819A>G			173529513	NM_001135095	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	CCDS3217.1																																																																																				0.473	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
ECT2	1894	broad.mit.edu	37	3	172480572	172480572	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:172480572G>T	ENST00000392692.3	+	10	1157	c.981G>T	c.(979-981)aaG>aaT	p.K327N	ECT2_ENST00000417960.1_Missense_Mutation_p.K295N|ECT2_ENST00000427830.1_Missense_Mutation_p.K296N|ECT2_ENST00000540509.1_Missense_Mutation_p.K327N|ECT2_ENST00000232458.5_Missense_Mutation_p.K296N|ECT2_ENST00000441497.2_Missense_Mutation_p.K296N	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	327	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.K296N(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AACCTTCAAAGAAACTTTATG	0.323																																					p.K296N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G888T	3						.						89.0	91.0	90.0					3																	172480572		2203	4299	6502	173963266	SO:0001583	missense	1894	exon8			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.981G>T	3.37:g.172480572G>T	ENSP00000376457:p.Lys327Asn		173963266	NM_018098	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	8.896	0.955189	0.18507	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.84	4.96	0.65561	BRCT (1);	0.174195	0.64402	D	0.000010	T	0.08714	0.0216	L	0.34521	1.04	0.53688	D	0.999972	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.10450	0.001;0.005;0.002;0.003	T	0.20371	-1.0277	10	0.17369	T	0.5	-6.3949	11.1858	0.48655	0.1926:0.0:0.8074:0.0	.	327;327;296;295	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	N	296;327;296;295;296;327	ENSP00000232458:K296N;ENSP00000376457:K327N;ENSP00000401910:K296N;ENSP00000415876:K295N;ENSP00000412259:K296N;ENSP00000443160:K327N	ENSP00000232458:K296N	K	+	3	2	ECT2	173963266	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	1.064000	0.30579	1.458000	0.47871	0.591000	0.81541	AAG		0.323	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098	
SPATA16	83893	broad.mit.edu	37	3	172766761	172766761	+	Missense_Mutation	SNP	G	G	T	rs116466451	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:172766761G>T	ENST00000351008.3	-	3	919	c.736C>A	c.(736-738)Ctt>Att	p.L246I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	246					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.L246I(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCAGGGCAAGATCTGGTTTC	0.433																																					p.L246I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C736A	3						.						144.0	127.0	133.0					3																	172766761		2203	4300	6503	174249455	SO:0001583	missense	83893	exon3			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.736C>A	3.37:g.172766761G>T	ENSP00000341765:p.Leu246Ile		174249455	NM_031955	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115399	0.77323	.	.	ENSG00000144962	ENST00000351008	T	0.25414	1.8	5.07	5.07	0.68467	Tetratricopeptide-like helical (1);	0.000000	0.47852	D	0.000201	T	0.40272	0.1110	L	0.29908	0.895	0.34137	D	0.665886	D	0.67145	0.996	D	0.80764	0.994	T	0.53019	-0.8497	10	0.87932	D	0	-10.1975	16.5798	0.84712	0.0:0.0:1.0:0.0	.	246	Q9BXB7	SPT16_HUMAN	I	246	ENSP00000341765:L246I	ENSP00000341765:L246I	L	-	1	0	SPATA16	174249455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.402000	0.59722	2.528000	0.85240	0.655000	0.94253	CTT		0.433	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	
TBL1XR1	79718	broad.mit.edu	37	3	176765106	176765106	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:176765106T>C	ENST00000430069.1	-	9	1105	c.846A>G	c.(844-846)ctA>ctG	p.L282L	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Silent_p.L282L			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	282					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.L282L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CTCCAGCACTTAGGATGAAAT	0.353																																					p.L282L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A846G	3						.						29.0	29.0	29.0					3																	176765106		1811	4048	5859	178247800	SO:0001819	synonymous_variant	79718	exon9			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.846A>G	3.37:g.176765106T>C			178247800	NM_024665	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Silent	SNP	ENST00000430069.1	37	CCDS46961.1																																																																																				0.353	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	
TBL1XR1	79718	broad.mit.edu	37	3	176767804	176767804	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:176767804A>G	ENST00000430069.1	-	7	942	c.683T>C	c.(682-684)gTc>gCc	p.V228A	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.V228A			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	228					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.V228A(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TAGAGATGTGACATCCTTGTT	0.418																																					p.V228A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T683C	3						.						160.0	147.0	151.0					3																	176767804		1976	4140	6116	178250498	SO:0001583	missense	79718	exon7			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.683T>C	3.37:g.176767804A>G	ENSP00000405574:p.Val228Ala		178250498	NM_024665	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567480	0.86439	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.73789	-0.78;-0.78	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87038	0.6078	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88640	0.3175	10	0.56958	D	0.05	-6.682	14.6231	0.68599	1.0:0.0:0.0:0.0	.	228	Q9BZK7	TBL1R_HUMAN	A	228;228;90	ENSP00000405574:V228A;ENSP00000413251:V228A	ENSP00000405574:V228A	V	-	2	0	TBL1XR1	178250498	1.000000	0.71417	0.826000	0.32828	0.986000	0.74619	9.328000	0.96403	2.100000	0.63781	0.533000	0.62120	GTC		0.418	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	
PIK3CA	5290	broad.mit.edu	37	3	178921549	178921549	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:178921549T>C	ENST00000263967.3	+	5	1188	c.1031T>C	c.(1030-1032)gTg>gCg	p.V344A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	344	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.V344G(8)|p.V344A(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GCAACCTACGTGAATGTAAAT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.V344A	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,central_nervous_system,brain,Substitution - Missense,0 	.	13	Substitution - Missense(13)	endometrium(6)|large_intestine(4)|cervix(2)|central_nervous_system(1)	c.T1031C	3						.						68.0	67.0	67.0					3																	178921549		1808	4073	5881	180404243	SO:0001583	missense	5290	exon5				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1031T>C	3.37:g.178921549T>C	ENSP00000263967:p.Val344Ala		180404243	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.881346	0.91740	.	.	ENSG00000121879	ENST00000263967	T	0.70631	-0.5	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.81044	0.4741	M	0.77103	2.36	0.80722	D	1	D	0.62365	0.991	P	0.57204	0.815	T	0.81961	-0.0693	10	0.42905	T	0.14	-22.945	15.721	0.77710	0.0:0.0:0.0:1.0	.	344	P42336	PK3CA_HUMAN	A	344	ENSP00000263967:V344A	ENSP00000263967:V344A	V	+	2	0	PIK3CA	180404243	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.606000	0.82863	2.166000	0.68216	0.402000	0.26972	GTG		0.303	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	broad.mit.edu	37	3	178922301	178922301	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:178922301G>A	ENST00000263967.3	+	6	1227	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	357	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R357Q(2)|p.R357L(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCTATGTTCGAACAGGTATC	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.R357Q	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	.	.	3	Substitution - Missense(3)	large_intestine(2)|kidney(1)	c.G1070A	3						.						198.0	168.0	177.0					3																	178922301		1847	4096	5943	180404995	SO:0001583	missense	5290	exon6				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1070G>A	3.37:g.178922301G>A	ENSP00000263967:p.Arg357Gln		180404995	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962823	0.74016	.	.	ENSG00000121879	ENST00000263967	T	0.77229	-1.08	5.53	5.53	0.82687	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	N	0.25789	0.76	0.80722	D	1	D	0.63046	0.992	P	0.53518	0.728	T	0.69910	-0.5017	10	0.10636	T	0.68	-13.6819	19.431	0.94765	0.0:0.0:1.0:0.0	.	357	P42336	PK3CA_HUMAN	Q	357	ENSP00000263967:R357Q	ENSP00000263967:R357Q	R	+	2	0	PIK3CA	180404995	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.600000	0.87896	0.655000	0.94253	CGA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	broad.mit.edu	37	3	178948093	178948093	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:178948093T>G	ENST00000263967.3	+	20	3022	c.2865T>G	c.(2863-2865)gtT>gtG	p.V955V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	955	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.V955V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGCCATTTGTTTTGACACAGG	0.323		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.V955V	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2865G	3						.						80.0	79.0	79.0					3																	178948093		1813	4078	5891	180430787	SO:0001819	synonymous_variant	5290	exon20				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2865T>G	3.37:g.178948093T>G			180430787	NM_006218	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.323	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	broad.mit.edu	37	3	178952007	178952007	+	Missense_Mutation	SNP	A	A	G	rs121913288		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:178952007A>G	ENST00000263967.3	+	21	3219	c.3062A>G	c.(3061-3063)tAc>tGc	p.Y1021C	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1021	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		Y -> C (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.|Y -> H (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|Y -> N (found in a glioblastoma multiforme sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Y1021C(23)|p.Y1021F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GACATTGCATACATTCGAAAG	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.Y1021C	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,ovary,NS,Substitution - Missense,0 	.	24	Substitution - Missense(24)	endometrium(12)|large_intestine(6)|stomach(2)|lung(2)|central_nervous_system(1)|ovary(1)	c.A3062G	3						.						104.0	92.0	95.0					3																	178952007		1876	4119	5995	180434701	SO:0001583	missense	5290	exon21				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3062A>G	3.37:g.178952007A>G	ENSP00000263967:p.Tyr1021Cys		180434701	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317192	0.60524	.	.	ENSG00000121879	ENST00000263967	D	0.81579	-1.51	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91676	0.5354	10	0.87932	D	0	-13.4912	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1021	P42336	PK3CA_HUMAN	C	1021	ENSP00000263967:Y1021C	ENSP00000263967:Y1021C	Y	+	2	0	PIK3CA	180434701	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	TAC		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
MFN1	55669	broad.mit.edu	37	3	179093043	179093043	+	Silent	SNP	C	C	T	rs543443619		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:179093043C>T	ENST00000471841.1	+	10	1137	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	MFN1_ENST00000263969.5_Silent_p.F337F|MFN1_ENST00000280653.7_Silent_p.F337F	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	337					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F337F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAACAAAGTTCGAACAGCACA	0.408													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16060	0.0		0.0	False		,,,				2504	0.0				p.F337F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1011T	3						.						73.0	69.0	70.0					3																	179093043		2203	4300	6503	180575737	SO:0001819	synonymous_variant	55669	exon10			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.1011C>T	3.37:g.179093043C>T			180575737	NM_033540	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	ENST00000471841.1	37	CCDS3228.1																																																																																				0.408	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927	
GNB4	59345	broad.mit.edu	37	3	179132751	179132751	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:179132751C>T	ENST00000232564.3	-	6	638	c.352G>A	c.(352-354)Gac>Aac	p.D118N	GNB4_ENST00000465153.1_5'Flank|GNB4_ENST00000468623.1_Missense_Mutation_p.D118N	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	118					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.D118N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CAGATGTTGTCCAAGCCTCCA	0.473																																					p.D118N	Melanoma(105;1405 1491 7265 20440 33721)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G352A	3						.						145.0	147.0	146.0					3																	179132751		2203	4300	6503	180615445	SO:0001583	missense	59345	exon6			AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.352G>A	3.37:g.179132751C>T	ENSP00000232564:p.Asp118Asn		180615445	NM_021629	B3KMH5|D3DNR8	Missense_Mutation	SNP	ENST00000232564.3	37	CCDS3230.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.732388|5.732388	0.96856|0.96856	.|.	.|.	ENSG00000114450|ENSG00000114450	ENST00000232564;ENST00000468623|ENST00000466899	D;D|.	0.88975|.	-2.45;-2.45|.	5.38|5.38	5.38|5.38	0.77491|0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86301|0.86301	0.5900|0.5900	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	D;P|.	0.89917|.	1.0;0.774|.	D;P|.	0.91635|.	0.999;0.662|.	D|D	0.88810|0.88810	0.3291|0.3291	10|5	0.87932|.	D|.	0|.	-5.2226|-5.2226	19.4892|19.4892	0.95044|0.95044	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	118;118|.	Q9HAV0;A8K3F6|.	GBB4_HUMAN;.|.	N|E	118|40	ENSP00000232564:D118N;ENSP00000419693:D118N|.	ENSP00000232564:D118N|.	D|G	-|-	1|2	0|0	GNB4|GNB4	180615445|180615445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.702000|7.702000	0.84576|0.84576	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.473	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629	
ACTL6A	86	broad.mit.edu	37	3	179292181	179292181	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:179292181G>T	ENST00000429709.2	+	5	615	c.402G>T	c.(400-402)gaG>gaT	p.E134D	ACTL6A_ENST00000450518.2_Missense_Mutation_p.E92D|ACTL6A_ENST00000392662.1_Missense_Mutation_p.E92D	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	134					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)	p.E134D(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			CAAAGAGAGAGAAACTGACAG	0.358																																					p.E92D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G276T	3						.						172.0	173.0	172.0					3																	179292181		2203	4300	6503	180774875	SO:0001583	missense	86	exon5			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.402G>T	3.37:g.179292181G>T	ENSP00000397552:p.Glu134Asp		180774875	NM_178042	B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Missense_Mutation	SNP	ENST00000429709.2	37	CCDS3231.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215225	0.79352	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	D;D;D	0.97906	-4.6;-4.6;-4.6	6.03	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.97074	0.9044	M	0.74647	2.275	0.58432	D	0.999996	P	0.45715	0.865	P	0.46796	0.527	D	0.96817	0.9601	10	0.87932	D	0	.	10.3125	0.43716	0.2013:0.0:0.7987:0.0	.	134	O96019	ACL6A_HUMAN	D	134;92;92	ENSP00000397552:E134D;ENSP00000394014:E92D;ENSP00000376430:E92D	ENSP00000376430:E92D	E	+	3	2	ACTL6A	180774875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.025000	0.41059	1.561000	0.49584	-0.136000	0.14681	GAG		0.358	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349599.1	NM_004301	
MRPL47	57129	broad.mit.edu	37	3	179306713	179306713	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:179306713G>T	ENST00000476781.1	-	7	729	c.700C>A	c.(700-702)Ctt>Att	p.L234I	MRPL47_ENST00000392659.2_Missense_Mutation_p.L124I|MRPL47_ENST00000259038.2_Missense_Mutation_p.L214I	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	234					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)	p.L234I(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TTTTTTAAAAGAATTTTTGCT	0.338																																					p.L124I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C370A	3						.						67.0	73.0	71.0					3																	179306713		2203	4299	6502	180789407	SO:0001583	missense	57129	exon6			AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.700C>A	3.37:g.179306713G>T	ENSP00000417602:p.Leu234Ile		180789407	NM_177988	Q6XRG1|Q8N5D1	Missense_Mutation	SNP	ENST00000476781.1	37	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255462	0.22965	.	.	ENSG00000136522	ENST00000476781;ENST00000259038;ENST00000392659	T;T;T	0.61859	0.86;1.01;0.07	5.56	4.69	0.59074	.	0.000000	0.64402	D	0.000002	T	0.61590	0.2359	M	0.73217	2.22	0.21105	N	0.99979	P;P	0.50369	0.934;0.646	P;P	0.52217	0.693;0.497	T	0.56697	-0.7936	10	0.37606	T	0.19	-12.5997	5.4634	0.16630	0.2033:0.1597:0.637:0.0	.	214;234	Q9HD33-2;Q9HD33	.;RM47_HUMAN	I	234;214;124	ENSP00000417602:L234I;ENSP00000259038:L214I;ENSP00000376427:L124I	ENSP00000259038:L214I	L	-	1	0	MRPL47	180789407	1.000000	0.71417	0.331000	0.25455	0.094000	0.18550	2.131000	0.42074	1.490000	0.48466	0.591000	0.81541	CTT		0.338	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409	
USP13	8975	broad.mit.edu	37	3	179437748	179437748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:179437748G>T	ENST00000263966.3	+	7	1297	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Nonsense_Mutation_p.E211*	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	276					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E276*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTTCAAGAAGAAGAACCTGT	0.378																																					p.E276X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G826T	3						.						200.0	181.0	188.0					3																	179437748		2203	4300	6503	180920442	SO:0001587	stop_gained	8975	exon7			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.826G>T	3.37:g.179437748G>T	ENSP00000263966:p.Glu276*		180920442	NM_003940	A8K2S3|B4DYF3|D3DNS2|Q96B25	Nonsense_Mutation	SNP	ENST00000263966.3	37	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	43	9.853588	0.99280	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	.	.	.	5.5	5.5	0.81552	.	0.048303	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.594	19.7641	0.96334	0.0:0.0:1.0:0.0	.	.	.	.	X	276;211	.	ENSP00000263966:E276X	E	+	1	0	USP13	180920442	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.731000	0.98807	2.733000	0.93635	0.650000	0.86243	GAA		0.378	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1		
PEX5L	51555	broad.mit.edu	37	3	179525470	179525470	+	Silent	SNP	G	G	A	rs372608488		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:179525470G>A	ENST00000467460.1	-	14	1998	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Silent_p.G364G|PEX5L_ENST00000392649.3_Silent_p.G448G|PEX5L_ENST00000485199.1_Silent_p.G521G|PEX5L_ENST00000263962.8_Silent_p.G554G|PEX5L_ENST00000472994.1_Silent_p.G497G|PEX5L_ENST00000464614.1_Silent_p.G448G|PEX5L_ENST00000465751.1_Silent_p.G532G|PEX5L_ENST00000476138.1_Silent_p.G513G	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	556					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)	p.G556G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACCTGTAGGCGCCCAGGTTGA	0.527																																					p.G556G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1668T	3						.	G		1,4405	2.1+/-5.4	0,1,2202	176.0	171.0	172.0		1668	-3.6	1.0	3		172	0,8600		0,0,4300	no	coding-synonymous	PEX5L	NM_016559.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		556/627	179525470	1,13005	2203	4300	6503	181008164	SO:0001819	synonymous_variant	51555	exon14			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1668C>T	3.37:g.179525470G>A			181008164	NM_016559	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	ENST00000467460.1	37	CCDS3236.1																																																																																				0.527	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559	
TTC14	151613	broad.mit.edu	37	3	180328304	180328304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:180328304G>T	ENST00000296015.4	+	12	2419	c.2287G>T	c.(2287-2289)Gaa>Taa	p.E763*	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	763							RNA binding (GO:0003723)	p.E763*(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTTGAAAAAGAAAAAGGAAA	0.299																																					p.E763X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2287T	3						.						34.0	42.0	39.0					3																	180328304		2142	4258	6400	181810998	SO:0001587	stop_gained	151613	exon12			AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.2287G>T	3.37:g.180328304G>T	ENSP00000296015:p.Glu763*		181810998	NM_133462	G5E9X0|Q6UWJ7|Q8TF22	Nonsense_Mutation	SNP	ENST00000296015.4	37	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	40	8.022881	0.98616	.	.	ENSG00000163728	ENST00000296015	.	.	.	5.92	5.92	0.95590	.	0.237196	0.45361	D	0.000365	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.4353	20.3151	0.98650	0.0:0.0:1.0:0.0	.	.	.	.	X	763	.	ENSP00000296015:E763X	E	+	1	0	TTC14	181810998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.594000	0.67557	2.809000	0.96659	0.467000	0.42956	GAA		0.299	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	
CCDC39	339829	broad.mit.edu	37	3	180372618	180372618	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:180372618G>A	ENST00000442201.2	-	7	981	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	CCDC39_ENST00000273654.4_Missense_Mutation_p.R372C	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	288					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.R288C(1)|p.R372C(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAAAGTTTACGATCAGCCACA	0.353																																					p.R288C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C862T	3						.						165.0	139.0	147.0					3																	180372618		1819	4085	5904	181855312	SO:0001583	missense	339829	exon7			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.862C>T	3.37:g.180372618G>A	ENSP00000405708:p.Arg288Cys		181855312	NM_181426	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221606	0.79464	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.79352	-1.26;-1.26	5.5	5.5	0.81552	.	0.113923	0.64402	D	0.000012	D	0.89378	0.6698	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90267	0.4305	10	0.87932	D	0	-10.5519	19.3658	0.94461	0.0:0.0:1.0:0.0	.	288	Q9UFE4	CCD39_HUMAN	C	372;288	ENSP00000273654:R372C;ENSP00000405708:R288C	ENSP00000273654:R372C	R	-	1	0	CCDC39	181855312	1.000000	0.71417	0.966000	0.40874	0.731000	0.41821	5.249000	0.65427	2.737000	0.93849	0.563000	0.77884	CGT		0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
FXR1	8087	broad.mit.edu	37	3	180680848	180680848	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:180680848C>T	ENST00000357559.4	+	13	1552	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	FXR1_ENST00000305586.7_Missense_Mutation_p.R305C|FXR1_ENST00000468861.1_Missense_Mutation_p.R305C|FXR1_ENST00000480918.1_Missense_Mutation_p.R377C|FXR1_ENST00000445140.2_Missense_Mutation_p.R390C|FXR1_ENST00000491062.1_Missense_Mutation_p.R341C	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	390					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R390C(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGGCAGAGGTCGTCGGGGACC	0.383																																					p.R390C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1168T	3						.						130.0	131.0	131.0					3																	180680848		2203	4300	6503	182163542	SO:0001583	missense	8087	exon13			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1168C>T	3.37:g.180680848C>T	ENSP00000350170:p.Arg390Cys		182163542	NM_001013438	A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	ENST00000357559.4	37	CCDS3238.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753546	0.89753	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;P	0.72075	0.954;0.976;0.976;0.959;0.947;0.895	T	0.64757	-0.6332	10	0.72032	D	0.01	-21.4156	19.1372	0.93433	0.0:1.0:0.0:0.0	.	377;341;305;334;390;390	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	C	390;305;341;305;390;377	ENSP00000350170:R390C;ENSP00000307633:R305C;ENSP00000420643:R341C;ENSP00000420515:R305C;ENSP00000388828:R390C;ENSP00000418097:R377C	ENSP00000307633:R305C	R	+	1	0	FXR1	182163542	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.390000	0.66261	2.596000	0.87737	0.467000	0.42956	CGT		0.383	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		
SOX2	6657	broad.mit.edu	37	3	181430750	181430750	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:181430750A>G	ENST00000325404.1	+	1	1029	c.602A>G	c.(601-603)gAc>gGc	p.D201G	SOX2_ENST00000431565.2_Missense_Mutation_p.D201G	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	201					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D201G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CACCGCTACGACGTGAGCGCC	0.647			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																														p.D201G			Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A602G	3						.						54.0	47.0	49.0					3																	181430750		2203	4300	6503	182913444	SO:0001583	missense	6657	exon1			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.602A>G	3.37:g.181430750A>G	ENSP00000323588:p.Asp201Gly		182913444	NM_003106	Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063286	0.55432	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.97089	-4.24;-4.24	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98052	0.9358	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	D	0.98988	1.0807	10	0.87932	D	0	.	14.6618	0.68876	1.0:0.0:0.0:0.0	.	201	P48431	SOX2_HUMAN	G	201	ENSP00000439111:D201G;ENSP00000323588:D201G	ENSP00000323588:D201G	D	+	2	0	SOX2	182913444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.277000	0.78572	2.102000	0.63906	0.482000	0.46254	GAC		0.647	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106	
LAMP3	27074	broad.mit.edu	37	3	182853553	182853553	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:182853553C>T	ENST00000265598.3	-	5	1324	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	LAMP3_ENST00000466939.1_Missense_Mutation_p.D333N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	357					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.D357N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGTTGGACATCGGTTGTTTTC	0.488																																					p.D357N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1069A	3						.						219.0	210.0	213.0					3																	182853553		2203	4300	6503	184336247	SO:0001583	missense	27074	exon5			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1069G>A	3.37:g.182853553C>T	ENSP00000265598:p.Asp357Asn		184336247	NM_014398	D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	c	0.021	-1.422906	0.01126	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.30981	1.51;1.51	5.47	3.06	0.35304	.	0.206543	0.33938	N	0.004410	T	0.07052	0.0179	N	0.00648	-1.295	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.38499	-0.9658	10	0.02654	T	1	-11.8843	7.6101	0.28124	0.0:0.1774:0.0:0.8226	.	357	Q9UQV4	LAMP3_HUMAN	N	357;333	ENSP00000265598:D357N;ENSP00000418912:D333N	ENSP00000265598:D357N	D	-	1	0	LAMP3	184336247	0.745000	0.28261	0.131000	0.22000	0.229000	0.25112	0.947000	0.29082	1.004000	0.39156	-0.285000	0.09966	GAT		0.488	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1		
MCF2L2	23101	broad.mit.edu	37	3	182923984	182923984	+	Missense_Mutation	SNP	G	G	A	rs61750384	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:182923984G>A	ENST00000328913.3	-	24	3028	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R911C	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	911	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R911C(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCAAGCTGGCGAATTGAAAGT	0.418													G|||	4	0.000798722	0.0	0.0043	5008	,	,		19673	0.0		0.001	False		,,,				2504	0.0				p.R911C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2731T	3						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	128.0	116.0	120.0		2731	1.2	1.0	3	dbSNP_129	120	15,8585	11.2+/-40.8	0,15,4285	yes	missense	MCF2L2	NM_015078.2	180	0,16,6487	AA,AG,GG		0.1744,0.0227,0.123	probably-damaging	911/1115	182923984	16,12990	2203	4300	6503	184406678	SO:0001583	missense	23101	exon24			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2731C>T	3.37:g.182923984G>A	ENSP00000328118:p.Arg911Cys		184406678	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	3	0.0013736263736263737	0	0.0	2	0.0055248618784530384	0	0.0	1	0.0013192612137203166	G	15.73	2.919350	0.52546	2.27E-4	0.001744	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.12361	2.69;2.69	4.28	1.2	0.21068	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.273225	0.30109	N	0.010384	T	0.05135	0.0137	N	0.22421	0.69	0.38176	D	0.939475	B	0.15473	0.013	B	0.08055	0.003	T	0.19289	-1.0310	10	0.87932	D	0	.	3.9398	0.09321	0.1943:0.0:0.6214:0.1843	rs61750384	911	Q86YR7	MF2L2_HUMAN	C	911	ENSP00000328118:R911C;ENSP00000420070:R911C	ENSP00000328118:R911C	R	-	1	0	MCF2L2	184406678	0.827000	0.29292	0.995000	0.50966	0.833000	0.47200	1.133000	0.31430	0.536000	0.28733	0.563000	0.77884	CGC		0.418	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
MCF2L2	23101	broad.mit.edu	37	3	183006997	183006997	+	Missense_Mutation	SNP	G	G	A	rs201525425		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:183006997G>A	ENST00000328913.3	-	14	1984	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R563C|MCF2L2_ENST00000414362.2_Missense_Mutation_p.R563C|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R563C	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	563							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R563C(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTCAGAGGACGAGCTAGAGGG	0.423																																					p.R563C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1687T	3						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	49.0	48.0	49.0		1687	2.5	0.8	3		49	4,8596	3.0+/-9.4	0,4,4296	yes	missense	MCF2L2	NM_015078.2	180	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	563/1115	183006997	5,13001	2203	4300	6503	184489691	SO:0001583	missense	23101	exon14			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1687C>T	3.37:g.183006997G>A	ENSP00000328118:p.Arg563Cys		184489691	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688143	0.29962	2.27E-4	4.65E-4	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.06294	4.53;4.55;3.66;3.32	3.35	2.47	0.30058	.	1.048820	0.07524	N	0.911026	T	0.05410	0.0143	N	0.22421	0.69	0.58432	D	0.999991	B;B	0.17852	0.024;0.018	B;B	0.12156	0.007;0.001	T	0.24083	-1.0170	10	0.59425	D	0.04	.	6.2176	0.20663	0.1365:0.0:0.8635:0.0	.	563;563	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	C	563;563;563;99;563	ENSP00000328118:R563C;ENSP00000420070:R563C;ENSP00000388190:R563C;ENSP00000414131:R563C	ENSP00000328118:R563C	R	-	1	0	MCF2L2	184489691	0.987000	0.35691	0.814000	0.32528	0.095000	0.18619	0.155000	0.16362	1.000000	0.39049	0.650000	0.86243	CGT		0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
MCF2L2	23101	broad.mit.edu	37	3	183014843	183014843	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:183014843C>T	ENST00000328913.3	-	12	1715	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D	B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000447025.2_Missense_Mutation_p.G473D|MCF2L2_ENST00000414362.2_Missense_Mutation_p.G473D|MCF2L2_ENST00000473233.1_Missense_Mutation_p.G473D	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	473							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G473D(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTTGACTGTGCCCAGGAATGT	0.507																																					p.G473D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1418A	3						.						130.0	108.0	116.0					3																	183014843		2203	4300	6503	184497537	SO:0001583	missense	23101	exon12			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1418G>A	3.37:g.183014843C>T	ENSP00000328118:p.Gly473Asp		184497537	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.283084	0.23392	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.04917	4.63;4.64;3.75;3.53	4.66	1.88	0.25563	.	0.754875	0.12529	N	0.460989	T	0.03477	0.0100	N	0.16567	0.415	0.50467	D	0.999871	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.43782	-0.9370	10	0.33940	T	0.23	.	1.7916	0.03053	0.1288:0.3969:0.2509:0.2234	.	473;473	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	D	473	ENSP00000328118:G473D;ENSP00000420070:G473D;ENSP00000388190:G473D;ENSP00000414131:G473D	ENSP00000328118:G473D	G	-	2	0	MCF2L2	184497537	0.021000	0.18746	0.271000	0.24616	0.503000	0.33858	-0.120000	0.10660	0.204000	0.20548	0.655000	0.94253	GGC		0.507	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
MCF2L2	23101	broad.mit.edu	37	3	183056614	183056614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:183056614G>A	ENST00000328913.3	-	5	757	c.460C>T	c.(460-462)Cga>Tga	p.R154*	MCF2L2_ENST00000447025.2_Nonsense_Mutation_p.R154*|MCF2L2_ENST00000414362.2_Nonsense_Mutation_p.R154*|MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.R154*	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	154	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R154*(2)|p.R154R(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AACTCATTTCGATAGTATTTA	0.438																																					p.R154X												.	.	3	Substitution - Nonsense(2)|Substitution - coding silent(1)	large_intestine(3)	c.C460T	3						.						120.0	109.0	112.0					3																	183056614		2203	4300	6503	184539308	SO:0001587	stop_gained	23101	exon5			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.460C>T	3.37:g.183056614G>A	ENSP00000328118:p.Arg154*		184539308	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Nonsense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612306	0.46631	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	.	.	.	4.81	0.0622	0.14344	.	0.186219	0.36815	N	0.002384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2661	0.73663	0.0:0.0:0.5214:0.4786	.	.	.	.	X	154	.	ENSP00000328118:R154X	R	-	1	2	MCF2L2	184539308	1.000000	0.71417	0.945000	0.38365	0.555000	0.35460	2.030000	0.41108	0.090000	0.17273	-0.182000	0.12963	CGA		0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
KLHL24	54800	broad.mit.edu	37	3	183368215	183368215	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:183368215G>A	ENST00000454652.2	+	4	457	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	KLHL24_ENST00000242810.6_Missense_Mutation_p.R24Q|KLHL24_ENST00000476808.1_Missense_Mutation_p.R24Q	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	24						cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.R24Q(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAACTAAGCGAAAAGTTTTT	0.398																																					p.R24Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G71A	3						.						63.0	67.0	66.0					3																	183368215		2203	4300	6503	184850909	SO:0001583	missense	54800	exon3				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.71G>A	3.37:g.183368215G>A	ENSP00000395012:p.Arg24Gln		184850909	NM_017644	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187727	0.78789	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000437402;ENST00000454495;ENST00000473045;ENST00000468101;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;D;T;T;D;T;D;T	0.82255	-0.36;-1.59;-0.41;-0.42;-1.58;-0.36;-1.58;-0.31	5.59	5.59	0.84812	.	0.048120	0.85682	D	0.000000	T	0.76118	0.3943	L	0.27053	0.805	0.80722	D	1	D;D	0.56521	0.976;0.974	B;B	0.42422	0.387;0.186	T	0.74691	-0.3580	10	0.24483	T	0.36	.	19.5934	0.95525	0.0:0.0:1.0:0.0	.	24;24	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	Q	24	ENSP00000242810:R24Q;ENSP00000417347:R24Q;ENSP00000416836:R24Q;ENSP00000408567:R24Q;ENSP00000417275:R24Q;ENSP00000395012:R24Q;ENSP00000418922:R24Q;ENSP00000419010:R24Q	ENSP00000242810:R24Q	R	+	2	0	KLHL24	184850909	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.241000	0.95402	2.641000	0.89580	0.460000	0.39030	CGA		0.398	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644	
KLHL24	54800	broad.mit.edu	37	3	183368322	183368322	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:183368322C>T	ENST00000454652.2	+	4	564	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	KLHL24_ENST00000242810.6_Missense_Mutation_p.R60C|KLHL24_ENST00000476808.1_Missense_Mutation_p.R60C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	60						cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.R60C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGAATTTCGTGATAGCCG	0.413																																					p.R60C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C178T	3						.						121.0	118.0	119.0					3																	183368322		2203	4300	6503	184851016	SO:0001583	missense	54800	exon3				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.178C>T	3.37:g.183368322C>T	ENSP00000395012:p.Arg60Cys		184851016	NM_017644	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309684	0.81247	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000437402;ENST00000454495;ENST00000473045;ENST00000468101;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.44	5.44	0.79542	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87330	0.6150	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.89384	0.3684	10	0.87932	D	0	.	19.2708	0.94008	0.0:1.0:0.0:0.0	.	60;60	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	C	60	ENSP00000242810:R60C;ENSP00000417347:R60C;ENSP00000416836:R60C;ENSP00000419120:R60C;ENSP00000420207:R60C;ENSP00000408567:R60C;ENSP00000417275:R60C;ENSP00000395012:R60C;ENSP00000418922:R60C;ENSP00000419010:R60C	ENSP00000242810:R60C	R	+	1	0	KLHL24	184851016	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.583000	0.60964	2.560000	0.86352	0.460000	0.39030	CGT		0.413	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644	
HTR3C	170572	broad.mit.edu	37	3	183774718	183774718	+	Nonsense_Mutation	SNP	C	C	T	rs576349792		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:183774718C>T	ENST00000318351.1	+	5	479	c.445C>T	c.(445-447)Cga>Tga	p.R149*		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	149					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.R149*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGTGAAGGTCGAATTAAGTA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		18842	0.0		0.0	False		,,,				2504	0.001				p.R149X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C445T	3						.						210.0	181.0	191.0					3																	183774718		2203	4300	6503	185257412	SO:0001587	stop_gained	170572	exon5			AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.445C>T	3.37:g.183774718C>T	ENSP00000322617:p.Arg149*		185257412	NM_130770	A2RRR5	Nonsense_Mutation	SNP	ENST00000318351.1	37	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	25.6	4.652301	0.88056	.	.	ENSG00000178084	ENST00000318351	.	.	.	4.92	3.13	0.36017	.	1.917420	0.02636	N	0.104856	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.066	7.8166	0.29263	0.1611:0.7531:0.0:0.0857	.	.	.	.	X	149	.	ENSP00000322617:R149X	R	+	1	2	HTR3C	185257412	0.000000	0.05858	0.001000	0.08648	0.507000	0.33981	0.131000	0.15870	0.677000	0.31305	0.655000	0.94253	CGA		0.478	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770	
HTR3E	285242	broad.mit.edu	37	3	183822630	183822630	+	Missense_Mutation	SNP	C	C	T	rs181115598		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:183822630C>T	ENST00000415389.2	+	5	911	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	HTR3E_ENST00000335304.2_Missense_Mutation_p.R164C|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Missense_Mutation_p.R175C|HTR3E_ENST00000425359.2_Missense_Mutation_p.R134C|HTR3E_ENST00000436361.2_Missense_Mutation_p.R149C	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	149					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)	p.R164C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TAATGAAGGTCGCATCAGGTA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18812	0.001		0.0	False		,,,				2504	0.0				p.R164C	Melanoma(7;227 727 6634 44770)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C490T	3						.						136.0	118.0	124.0					3																	183822630		2203	4300	6503	185305324	SO:0001583	missense	285242	exon4			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.445C>T	3.37:g.183822630C>T	ENSP00000401444:p.Arg149Cys		185305324	NM_182589	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	CCDS58868.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	29.9	5.047227	0.93740	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	3.75	2.82	0.32997	Neurotransmitter-gated ion-channel ligand-binding (3);	1.899140	0.04305	U	0.348025	D	0.87370	0.6160	M	0.69358	2.11	0.32990	D	0.524835	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;P;P;P;P	0.61658	0.892;0.862;0.854;0.854;0.854	T	0.75684	-0.3232	10	0.56958	D	0.05	.	8.5675	0.33550	0.0:0.8742:0.0:0.1258	.	175;149;149;164;134	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	C	149;134;164;78;149;175	ENSP00000401444:R149C;ENSP00000401900:R134C;ENSP00000335511:R164C;ENSP00000391254:R78C;ENSP00000395833:R149C;ENSP00000406050:R175C	ENSP00000335511:R164C	R	+	1	0	HTR3E	185305324	0.000000	0.05858	0.033000	0.17914	0.986000	0.74619	0.629000	0.24538	0.850000	0.35239	0.591000	0.81541	CGC		0.488	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	
ECE2	9718	broad.mit.edu	37	3	183994688	183994688	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:183994688C>T	ENST00000402825.3	+	3	489	c.489C>T	c.(487-489)ttC>ttT	p.F163F	ECE2_ENST00000357474.5_Silent_p.F91F|ECE2_ENST00000359140.4_Silent_p.F16F|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.F45F	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	163					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.F163F(1)|p.F16F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGTGGGATTCCAGAAGGGGA	0.582																																					p.F163F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C489T	3						.						60.0	57.0	58.0					3																	183994688		2203	4300	6503	185477382	SO:0001819	synonymous_variant	9718	exon3			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.489C>T	3.37:g.183994688C>T			185477382	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	CCDS3256.2																																																																																				0.582	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	
ECE2	9718	broad.mit.edu	37	3	183996094	183996094	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:183996094T>C	ENST00000402825.3	+	6	1097	c.1097T>C	c.(1096-1098)gTt>gCt	p.V366A	ECE2_ENST00000357474.5_Missense_Mutation_p.V294A|ECE2_ENST00000359140.4_Missense_Mutation_p.V219A|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.V248A	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	366	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.V366A(1)|p.V219A(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACAGCAATGTTATCCAGGTG	0.552																																					p.V366A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1097C	3						.						64.0	63.0	63.0					3																	183996094		2203	4300	6503	185478788	SO:0001583	missense	9718	exon6			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1097T>C	3.37:g.183996094T>C	ENSP00000384223:p.Val366Ala		185478788	NM_014693	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	ENST00000402825.3	37	CCDS3256.2	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317614	0.81469	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	4.94	4.94	0.65067	Peptidase M13 (1);	0.397289	0.27710	N	0.018166	D	0.83436	0.5254	M	0.72624	2.21	0.42527	D	0.993024	P;D;P;B;P;P;P	0.64830	0.954;0.994;0.954;0.028;0.943;0.82;0.674	D;D;D;B;P;P;P	0.69307	0.925;0.963;0.925;0.096;0.877;0.809;0.701	T	0.82802	-0.0277	10	0.33940	T	0.23	-7.2969	13.5602	0.61784	0.0:0.0:0.0:1.0	.	219;294;237;248;294;219;366	B4DKF3;B7Z1P1;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	A	366;219;248;294;240	ENSP00000384223:V366A;ENSP00000352052:V219A;ENSP00000385846:V248A;ENSP00000350066:V294A;ENSP00000398444:V240A	ENSP00000350066:V294A	V	+	2	0	ECE2	185478788	0.966000	0.33281	0.522000	0.27862	0.823000	0.46562	7.493000	0.81493	2.082000	0.62665	0.379000	0.24179	GTT		0.552	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693	
EIF4G1	1981	broad.mit.edu	37	3	184039537	184039537	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:184039537G>A	ENST00000346169.2	+	10	1436	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	EIF4G1_ENST00000319274.6_Missense_Mutation_p.E389K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E396K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E349K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E225K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E193K|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E389K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E302K|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E349K|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E225K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E396K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E302K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E396K|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E193K	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	389					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.E389K(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGCCCCTCCGAATCCCCTGT	0.582																																					p.E389K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1165A	3						.						163.0	178.0	173.0					3																	184039537		2203	4300	6503	185522231	SO:0001583	missense	1981	exon9			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1165G>A	3.37:g.184039537G>A	ENSP00000316879:p.Glu389Lys		185522231	NM_182917	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	3.921	-0.018129	0.07681	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.36157	3.98;3.98;3.9;2.9;2.9;3.99;3.05;3.8;3.99;3.9;3.99;3.98;3.99;3.98;2.48;3.8;3.78;1.27;3.77	5.37	4.5	0.54988	.	1.650940	0.02933	N	0.139514	T	0.28732	0.0712	L	0.27053	0.805	0.18873	N	0.999983	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.0;0.002;0.001;0.002	T	0.21245	-1.0251	10	0.17832	T	0.49	-6.488	8.3426	0.32252	0.1736:0.0:0.8264:0.0	.	396;389;389;396	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	K	389;349;302;389;396;396;330;225;396;302;389;389;396;349;225;225;193;193;193	ENSP00000316879:E389K;ENSP00000391935:E349K;ENSP00000376320:E302K;ENSP00000391412:E389K;ENSP00000413159:E396K;ENSP00000371767:E396K;ENSP00000403269:E330K;ENSP00000317600:E225K;ENSP00000338020:E396K;ENSP00000407682:E302K;ENSP00000343450:E389K;ENSP00000323737:E389K;ENSP00000416255:E396K;ENSP00000395974:E349K;ENSP00000398145:E225K;ENSP00000399858:E225K;ENSP00000411826:E193K;ENSP00000399969:E193K;ENSP00000404754:E193K	ENSP00000323737:E389K	E	+	1	0	EIF4G1	185522231	0.844000	0.29557	0.078000	0.20375	0.338000	0.28826	1.830000	0.39131	1.499000	0.48617	0.563000	0.77884	GAA		0.582	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
CLCN2	1181	broad.mit.edu	37	3	184075424	184075424	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:184075424G>A	ENST00000265593.4	-	7	927	c.756C>T	c.(754-756)ttC>ttT	p.F252F	CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Silent_p.F252F|CLCN2_ENST00000457512.1_Silent_p.F252F|CLCN2_ENST00000475279.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.F208F	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	252					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TAGGTGCCGCGAAGCAGCAGC	0.647																																					p.F252F												.	.	0			c.C756T	3						.						53.0	62.0	59.0					3																	184075424		2203	4300	6503	185558118	SO:0001819	synonymous_variant	1181	exon7			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.756C>T	3.37:g.184075424G>A			185558118	NM_004366	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	ENST00000265593.4	37	CCDS3263.1																																																																																				0.647	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		
MAGEF1	64110	broad.mit.edu	37	3	184429273	184429273	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:184429273G>T	ENST00000317897.3	-	1	563	c.337C>A	c.(337-339)Ctg>Atg	p.L113M		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	113	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					extracellular vesicular exosome (GO:0070062)		p.L113M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			TCCGGGAACAGAATCTTCAAG	0.502																																					p.L113M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C337A	3						.						133.0	139.0	137.0					3																	184429273		2203	4300	6503	185911967	SO:0001583	missense	64110	exon1			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.337C>A	3.37:g.184429273G>T	ENSP00000315064:p.Leu113Met		185911967	NM_022149	Q9H215	Missense_Mutation	SNP	ENST00000317897.3	37	CCDS3269.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009542	0.35415	.	.	ENSG00000177383	ENST00000317897	T	0.04917	3.53	4.11	4.11	0.48088	.	0.207184	0.39985	N	0.001219	T	0.04907	0.0132	N	0.16656	0.425	0.09310	N	1	P	0.37548	0.599	B	0.38296	0.27	T	0.42275	-0.9461	10	0.33141	T	0.24	.	12.0648	0.53581	0.0:0.0:1.0:0.0	.	113	Q9HAY2	MAGF1_HUMAN	M	113	ENSP00000315064:L113M	ENSP00000315064:L113M	L	-	1	2	MAGEF1	185911967	0.003000	0.15002	0.028000	0.17463	0.339000	0.28857	0.520000	0.22878	2.310000	0.77875	0.655000	0.94253	CTG		0.502	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149	
VPS8	23355	broad.mit.edu	37	3	184633197	184633197	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:184633197A>C	ENST00000437079.3	+	28	2488	c.2317A>C	c.(2317-2319)Atc>Ctc	p.I773L	VPS8_ENST00000446204.2_Missense_Mutation_p.I681L|VPS8_ENST00000436792.2_Missense_Mutation_p.I771L|VPS8_ENST00000287546.4_Missense_Mutation_p.I773L	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	773							zinc ion binding (GO:0008270)	p.I773L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGAGGAAGAAATCTATCCTTA	0.358																																					p.I773L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2317C	3						.						75.0	70.0	71.0					3																	184633197		1818	4081	5899	186115891	SO:0001583	missense	23355	exon27			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2317A>C	3.37:g.184633197A>C	ENSP00000397879:p.Ile773Leu		186115891	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524575	0.44969	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	6.0	3.27	0.37495	Quinonprotein alcohol dehydrogenase-like (1);	0.166180	0.52532	D	0.000074	T	0.07863	0.0197	N	0.12182	0.205	0.27961	N	0.936758	B;B;B	0.17038	0.0;0.02;0.0	B;B;B	0.19946	0.006;0.027;0.005	T	0.39742	-0.9599	10	0.08381	T	0.77	-5.7469	8.077	0.30722	0.5715:0.0:0.4285:0.0	.	773;681;771	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	L	773;773;771;681	ENSP00000287546:I773L;ENSP00000397879:I773L;ENSP00000404704:I771L;ENSP00000405483:I681L	ENSP00000287546:I773L	I	+	1	0	VPS8	186115891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.701000	0.47094	0.370000	0.24538	0.528000	0.53228	ATC		0.358	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
VPS8	23355	broad.mit.edu	37	3	184648274	184648274	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:184648274A>C	ENST00000437079.3	+	34	2987	c.2816A>C	c.(2815-2817)tAc>tCc	p.Y939S	VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000446204.2_Missense_Mutation_p.Y847S|VPS8_ENST00000436792.2_Missense_Mutation_p.Y937S|VPS8_ENST00000287546.4_Missense_Mutation_p.Y939S	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	939							zinc ion binding (GO:0008270)	p.Y939S(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTCTTTAATTACATTCACAAT	0.393																																					p.Y939S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2816C	3						.						144.0	135.0	138.0					3																	184648274		1902	4130	6032	186130968	SO:0001583	missense	23355	exon33			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2816A>C	3.37:g.184648274A>C	ENSP00000397879:p.Tyr939Ser		186130968	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264260	0.80358	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.9	5.9	0.94986	Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.76328	2.33	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.996	D;D;D	0.76575	0.923;0.988;0.92	T	0.35475	-0.9787	10	0.35671	T	0.21	-28.0769	16.0056	0.80359	1.0:0.0:0.0:0.0	.	939;847;937	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	S	939;939;937;847	ENSP00000287546:Y939S;ENSP00000397879:Y939S;ENSP00000404704:Y937S;ENSP00000405483:Y847S	ENSP00000287546:Y939S	Y	+	2	0	VPS8	186130968	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.211000	0.65219	2.251000	0.74343	0.528000	0.53228	TAC		0.393	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
VPS8	23355	broad.mit.edu	37	3	184700809	184700809	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:184700809C>A	ENST00000437079.3	+	42	3683	c.3512C>A	c.(3511-3513)tCt>tAt	p.S1171Y	VPS8_ENST00000446204.2_Missense_Mutation_p.S1079Y|VPS8_ENST00000436792.2_Missense_Mutation_p.S1169Y|VPS8_ENST00000287546.4_Missense_Mutation_p.S1171Y	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1171							zinc ion binding (GO:0008270)	p.S1171Y(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GCTCTGAAGTCTTTGACCATG	0.308																																					p.S1171Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3512A	3						.						36.0	34.0	35.0					3																	184700809		1804	4068	5872	186183503	SO:0001583	missense	23355	exon41			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3512C>A	3.37:g.184700809C>A	ENSP00000397879:p.Ser1171Tyr		186183503	NM_001009921	A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561608	0.65538	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.20463	2.08;2.08;2.08;2.07	5.9	4.98	0.66077	.	0.237722	0.43919	D	0.000511	T	0.33585	0.0868	L	0.55481	1.735	0.39265	D	0.964274	P;D;D	0.61080	0.931;0.989;0.959	B;P;B	0.58820	0.243;0.846;0.424	T	0.06041	-1.0849	10	0.66056	D	0.02	-18.9325	9.185	0.37165	0.1628:0.6802:0.157:0.0	.	1171;1079;1169	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	Y	1171;1171;1169;1079	ENSP00000287546:S1171Y;ENSP00000397879:S1171Y;ENSP00000404704:S1169Y;ENSP00000405483:S1079Y	ENSP00000287546:S1171Y	S	+	2	0	VPS8	186183503	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.283000	0.33237	2.808000	0.96608	0.650000	0.86243	TCT		0.308	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303	
EHHADH	1962	broad.mit.edu	37	3	184910352	184910352	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:184910352G>A	ENST00000231887.3	-	7	1909	c.1834C>T	c.(1834-1836)Cgt>Tgt	p.R612C	EHHADH_ENST00000456310.1_Missense_Mutation_p.R516C|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	612					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.R612C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CTAATGGTACGTGGTTCAATG	0.438																																					p.R516C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1546T	3						.						122.0	113.0	116.0					3																	184910352		2203	4300	6503	186393046	SO:0001583	missense	1962	exon7			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1834C>T	3.37:g.184910352G>A	ENSP00000231887:p.Arg612Cys		186393046	NM_001166415	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606554	0.87157	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.89810	-2.57;-2.57	5.91	5.91	0.95273	.	0.047369	0.85682	D	0.000000	D	0.90995	0.7168	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	P	0.59643	0.861	D	0.91546	0.5253	10	0.87932	D	0	-8.8694	20.2985	0.98592	0.0:0.0:1.0:0.0	.	612	Q08426	ECHP_HUMAN	C	612;516	ENSP00000231887:R612C;ENSP00000387746:R516C	ENSP00000231887:R612C	R	-	1	0	EHHADH	186393046	1.000000	0.71417	0.093000	0.20910	0.908000	0.53690	9.415000	0.97375	2.793000	0.96121	0.655000	0.94253	CGT		0.438	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		
MAP3K13	9175	broad.mit.edu	37	3	185190864	185190864	+	Missense_Mutation	SNP	G	G	A	rs112797533		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:185190864G>A	ENST00000265026.3	+	11	2079	c.1745G>A	c.(1744-1746)aGc>aAc	p.S582N	MAP3K13_ENST00000443863.1_Missense_Mutation_p.S438N|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S375N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S582N|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S438N	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.S582N(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCAGCAAGAGCCGATATCGA	0.532																																					p.S582N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1745A	3						.						183.0	198.0	193.0					3																	185190864		2203	4300	6503	186673558	SO:0001583	missense	9175	exon11			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1745G>A	3.37:g.185190864G>A	ENSP00000265026:p.Ser582Asn		186673558	NM_004721		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970526	0.53614	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.5	5.5	0.81552	Protein kinase-like domain (1);	0.230534	0.45361	D	0.000368	T	0.32496	0.0831	N	0.24115	0.695	0.51233	D	0.999916	P;P;B	0.38504	0.493;0.634;0.361	B;B;B	0.33620	0.167;0.167;0.081	T	0.15665	-1.0429	10	0.51188	T	0.08	.	19.3719	0.94492	0.0:0.0:1.0:0.0	.	438;375;582	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	N	375;582;438;438;582	ENSP00000411483:S375N;ENSP00000399910:S582N;ENSP00000409325:S438N;ENSP00000439257:S438N;ENSP00000265026:S582N	ENSP00000265026:S582N	S	+	2	0	MAP3K13	186673558	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.649000	0.61433	2.568000	0.86640	0.555000	0.69702	AGC		0.532	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
MAP3K13	9175	broad.mit.edu	37	3	185190985	185190985	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:185190985C>A	ENST00000265026.3	+	11	2200	c.1866C>A	c.(1864-1866)caC>caA	p.H622Q	MAP3K13_ENST00000443863.1_Missense_Mutation_p.H478Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.H415Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.H622Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.H478Q	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.H622Q(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTTACCTGCACCAAGCTCAAT	0.542																																					p.H622Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1866A	3						.						337.0	352.0	347.0					3																	185190985		2203	4300	6503	186673679	SO:0001583	missense	9175	exon11			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1866C>A	3.37:g.185190985C>A	ENSP00000265026:p.His622Gln		186673679	NM_004721		Missense_Mutation	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	C	2.415	-0.334407	0.05278	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.98	0.849	0.18972	Protein kinase-like domain (1);	0.642840	0.13568	N	0.378278	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21280	-1.0250	10	0.12103	T	0.63	.	1.715	0.02899	0.2433:0.3897:0.2161:0.1509	.	478;415;622	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	Q	415;622;478;478;622	ENSP00000411483:H415Q;ENSP00000399910:H622Q;ENSP00000409325:H478Q;ENSP00000439257:H478Q;ENSP00000265026:H622Q	ENSP00000265026:H622Q	H	+	3	2	MAP3K13	186673679	0.000000	0.05858	0.104000	0.21259	0.914000	0.54420	-0.162000	0.10012	0.086000	0.17137	0.561000	0.74099	CAC		0.542	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721	
ETV5	2119	broad.mit.edu	37	3	185775242	185775242	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:185775242C>T	ENST00000306376.5	-	10	1255	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.D379N|ETV5_ENST00000434744.1_Missense_Mutation_p.D337N	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	337					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D337N(2)		breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACACAAGTGTCGTCAAAGTAT	0.408			T	"""TMPRSS2, SCL45A3"""	Prostate																																p.D337N			Dom	yes		3	3q28	2119	ets variant gene 5		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1009A	3						.						285.0	301.0	296.0					3																	185775242		2203	4300	6503	187257936	SO:0001583	missense	2119	exon10			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1009G>A	3.37:g.185775242C>T	ENSP00000306894:p.Asp337Asn		187257936	NM_004454	A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574682	0.96553	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.35048	1.33;1.33;1.33	6.07	6.07	0.98685	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72625	0.909;0.978	T	0.67288	-0.5708	10	0.66056	D	0.02	.	19.4154	0.94694	0.0:1.0:0.0:0.0	.	337;379	P41161;B7Z7D7	ETV5_HUMAN;.	N	337;337;379	ENSP00000306894:D337N;ENSP00000413755:D337N;ENSP00000441737:D379N	ENSP00000306894:D337N	D	-	1	0	ETV5	187257936	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.453000	0.80700	2.884000	0.98904	0.655000	0.94253	GAC		0.408	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
TBCCD1	55171	broad.mit.edu	37	3	186272189	186272189	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:186272189G>T	ENST00000424280.1	-	6	1877	c.1398C>A	c.(1396-1398)ttC>ttA	p.F466L	TBCCD1_ENST00000446782.1_Missense_Mutation_p.F370L|TBCCD1_ENST00000338733.5_Missense_Mutation_p.F466L|TBCCD1_ENST00000479590.1_5'UTR	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	466					cell morphogenesis (GO:0000902)|cytoskeleton organization (GO:0007010)|maintenance of centrosome location (GO:0051661)|maintenance of Golgi location (GO:0051684)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|spindle pole centrosome (GO:0031616)		p.F466L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TAAATACATAGAATTCACAAG	0.443																																					p.F466L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1398A	3						.						91.0	96.0	95.0					3																	186272189		2203	4300	6503	187754883	SO:0001583	missense	55171	exon6			BC025748	CCDS3276.1, CCDS75061.1	3q27.3	2006-03-09			ENSG00000113838	ENSG00000113838			25546	protein-coding gene	gene with protein product						12477932	Standard	NM_001134415		Approved	FLJ10560	uc003fqg.3	Q9NVR7	OTTHUMG00000156613	ENST00000424280.1:c.1398C>A	3.37:g.186272189G>T	ENSP00000411253:p.Phe466Leu		187754883	NM_001134415	B3KW69|D3DNU6|G5E9J4	Missense_Mutation	SNP	ENST00000424280.1	37	CCDS3276.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963318	0.74016	.	.	ENSG00000113838	ENST00000424280;ENST00000338733;ENST00000446782	D;D;D	0.93547	-3.13;-3.13;-3.24	5.66	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	M	0.84683	2.71	0.51233	D	0.999911	D;D	0.89917	0.996;1.0	D;D	0.87578	0.938;0.998	D	0.95937	0.8943	10	0.66056	D	0.02	-17.7552	8.6534	0.34049	0.1717:0.0:0.8283:0.0	.	370;466	G5E9J4;Q9NVR7	.;TBCC1_HUMAN	L	466;466;370	ENSP00000411253:F466L;ENSP00000341652:F466L;ENSP00000397091:F370L	ENSP00000341652:F466L	F	-	3	2	TBCCD1	187754883	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.972000	0.40540	1.398000	0.46701	0.552000	0.68991	TTC		0.443	TBCCD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344774.1	NM_018138	
HRG	3273	broad.mit.edu	37	3	186386826	186386826	+	Missense_Mutation	SNP	C	C	T	rs539629653		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:186386826C>T	ENST00000232003.4	+	2	366	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	96	Cystatin 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.R96C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGATTCCAGACGTCCATCTGA	0.423																																					p.R96C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C286T	3						.						116.0	115.0	115.0					3																	186386826		2203	4300	6503	187869520	SO:0001583	missense	3273	exon2				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.286C>T	3.37:g.186386826C>T	ENSP00000232003:p.Arg96Cys		187869520	NM_000412	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064674	0.36470	.	.	ENSG00000113905	ENST00000232003	T	0.13901	2.55	4.63	-0.416	0.12351	Proteinase inhibitor I25, cystatin (2);	1.222890	0.05871	N	0.624624	T	0.26702	0.0653	M	0.78223	2.4	0.09310	N	1	D	0.89917	1.0	P	0.57846	0.828	T	0.14420	-1.0473	10	0.38643	T	0.18	-1.3299	1.2822	0.02043	0.2675:0.4061:0.1458:0.1806	.	96	P04196	HRG_HUMAN	C	96	ENSP00000232003:R96C	ENSP00000232003:R96C	R	+	1	0	HRG	187869520	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.811000	0.04500	-0.212000	0.10109	-0.878000	0.02970	CGT		0.423	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
HRG	3273	broad.mit.edu	37	3	186390602	186390602	+	Silent	SNP	C	C	T	rs193063661	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:186390602C>T	ENST00000232003.4	+	5	665	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	195	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.F195F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTGGTTACTTCGTGGACTTCT	0.433													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18183	0.0		0.001	False		,,,				2504	0.0				p.F195F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C585T	3						.						101.0	97.0	98.0					3																	186390602		2203	4300	6503	187873296	SO:0001819	synonymous_variant	3273	exon5				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.585C>T	3.37:g.186390602C>T			187873296	NM_000412	B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	CCDS3280.1																																																																																				0.433	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
RFC4	5984	broad.mit.edu	37	3	186515394	186515394	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:186515394G>T	ENST00000392481.2	-	4	501	c.220C>A	c.(220-222)Ctc>Atc	p.L74I	RFC4_ENST00000296273.2_Missense_Mutation_p.L74I|RFC4_ENST00000433496.1_Missense_Mutation_p.L74I	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	74					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.L74I(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TAAAACAAGAGATTAGGAAGC	0.343																																					p.L74I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C220A	3						.						79.0	84.0	82.0					3																	186515394		2203	4300	6503	187998088	SO:0001583	missense	5984	exon4				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.220C>A	3.37:g.186515394G>T	ENSP00000376272:p.Leu74Ile		187998088	NM_002916	B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754436	0.89843	.	.	ENSG00000163918	ENST00000433496;ENST00000392481;ENST00000296273;ENST00000418288;ENST00000447345;ENST00000427785;ENST00000448497	D;D;D;D;D;D;T	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;0.91	6.05	6.05	0.98169	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	N	0.26162	0.8	0.80722	D	1	P;D	0.56746	0.643;0.977	D;D	0.71870	0.944;0.975	D	0.93640	0.6964	10	0.42905	T	0.14	.	18.0951	0.89487	0.0:0.0:1.0:0.0	.	74;74	B4DM41;P35249	.;RFC4_HUMAN	I	74	ENSP00000399769:L74I;ENSP00000376272:L74I;ENSP00000296273:L74I;ENSP00000411300:L74I;ENSP00000413065:L74I;ENSP00000407982:L74I;ENSP00000415099:L74I	ENSP00000296273:L74I	L	-	1	0	RFC4	187998088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.205000	0.65186	2.878000	0.98634	0.650000	0.86243	CTC		0.343	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916	
RTP1	132112	broad.mit.edu	37	3	186917743	186917743	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:186917743C>T	ENST00000312295.4	+	2	707	c.677C>T	c.(676-678)tCg>tTg	p.S226L	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	226					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.S226L(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCCACCAAGTCGCAGGACCAG	0.627																																					p.S226L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C677T	3						.						58.0	55.0	56.0					3																	186917743		2203	4300	6503	188400437	SO:0001583	missense	132112	exon2			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.677C>T	3.37:g.186917743C>T	ENSP00000311712:p.Ser226Leu		188400437	NM_153708		Missense_Mutation	SNP	ENST00000312295.4	37	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186578	0.21870	.	.	ENSG00000175077	ENST00000312295	T	0.14144	2.53	5.74	5.74	0.90152	.	0.266250	0.32028	N	0.006696	T	0.08714	0.0216	N	0.08118	0	0.24069	N	0.995982	B	0.02656	0.0	B	0.01281	0.0	T	0.26950	-1.0088	10	0.42905	T	0.14	.	15.418	0.74987	0.0:1.0:0.0:0.0	.	226	P59025	RTP1_HUMAN	L	226	ENSP00000311712:S226L	ENSP00000311712:S226L	S	+	2	0	RTP1	188400437	0.727000	0.28069	0.975000	0.42487	0.232000	0.25224	1.604000	0.36804	2.723000	0.93209	0.655000	0.94253	TCG		0.627	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708	
SST	6750	broad.mit.edu	37	3	187386941	187386941	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:187386941C>A	ENST00000287641.3	-	2	370	c.263G>T	c.(262-264)aGa>aTa	p.R88I		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	88					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)	p.R88I(1)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GTTAGCAGATCTCTGCAGCTC	0.507																																					p.R88I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263T	3						.						249.0	235.0	240.0					3																	187386941		2203	4300	6503	188869635	SO:0001583	missense	6750	exon2				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.263G>T	3.37:g.187386941C>A	ENSP00000287641:p.Arg88Ile		188869635	NM_001048	B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695959	0.88830	.	.	ENSG00000157005	ENST00000287641	T	0.47177	0.85	5.31	5.31	0.75309	.	0.100209	0.64402	D	0.000002	T	0.72211	0.3432	M	0.82716	2.605	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.76895	-0.2790	10	0.87932	D	0	-20.4609	17.9614	0.89086	0.0:1.0:0.0:0.0	.	88	P61278	SMS_HUMAN	I	88	ENSP00000287641:R88I	ENSP00000287641:R88I	R	-	2	0	SST	188869635	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.487000	0.81328	2.480000	0.83734	0.305000	0.20034	AGA		0.507	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048	
TP63	8626	broad.mit.edu	37	3	189526267	189526267	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:189526267C>T	ENST00000264731.3	+	4	620	c.531C>T	c.(529-531)ttC>ttT	p.F177F	TP63_ENST00000382063.4_Intron|TP63_ENST00000456148.1_Silent_p.F83F|TP63_ENST00000449992.1_Intron|TP63_ENST00000320472.5_Silent_p.F177F|TP63_ENST00000354600.5_Silent_p.F83F|TP63_ENST00000418709.2_Silent_p.F177F|TP63_ENST00000440651.2_Silent_p.F177F|TP63_ENST00000392463.2_Silent_p.F83F|TP63_ENST00000392460.3_Silent_p.F177F|TP63_ENST00000392461.3_Silent_p.F83F|TP63_ENST00000437221.1_Silent_p.F83F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	177				F -> S (in Ref. 1; BAA32433). {ECO:0000305}.	apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.F177F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCACAGTTTCGACGTGTCCT	0.652										HNSCC(45;0.13)																											p.F83F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249T	3						.						148.0	113.0	125.0					3																	189526267		2203	4300	6503	191008961	SO:0001819	synonymous_variant	8626	exon2			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.531C>T	3.37:g.189526267C>T			191008961	NM_001114980	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	CCDS3293.1																																																																																				0.652	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722	
LEPREL1	55214	broad.mit.edu	37	3	189689689	189689689	+	Nonsense_Mutation	SNP	G	G	A	rs35067805	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:189689689G>A	ENST00000319332.5	-	12	2004	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.R422*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	603	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.R603*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTATAGTCTCGAAATGTGTAA	0.443																																					p.R422X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1264T	3						.						77.0	71.0	73.0					3																	189689689		2203	4300	6503	191172383	SO:0001587	stop_gained	55214	exon12				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1807C>T	3.37:g.189689689G>A	ENSP00000316881:p.Arg603*		191172383	NM_001134418	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Nonsense_Mutation	SNP	ENST00000319332.5	37	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	39	7.785823	0.98489	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.04	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.5929	12.2622	0.54658	0.0:0.0:0.7247:0.2753	.	.	.	.	X	603;422	.	.	R	-	1	2	LEPREL1	191172383	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	2.377000	0.44300	2.740000	0.93945	0.643000	0.83706	CGA		0.443	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192	
OSTN	344901	broad.mit.edu	37	3	190936708	190936708	+	Missense_Mutation	SNP	A	A	G	rs375405607		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:190936708A>G	ENST00000339051.1	+	2	275	c.275A>G	c.(274-276)gAc>gGc	p.D92G	OSTN-AS1_ENST00000430375.1_RNA|OSTN_ENST00000445281.1_Missense_Mutation_p.D92G	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	92					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)		p.D92G(1)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TCTCCCCTTGACAGACTCTCA	0.378																																					p.D92G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A275G	3						.						93.0	93.0	93.0					3																	190936708		2203	4300	6503	192419402	SO:0001583	missense	344901	exon2			AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.275A>G	3.37:g.190936708A>G	ENSP00000342356:p.Asp92Gly		192419402	NM_198184	A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237081	0.79800	.	.	ENSG00000188729	ENST00000445281;ENST00000339051	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.76919	0.4055	M	0.63843	1.955	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	T	0.79351	-0.1839	9	0.87932	D	0	0.0381	15.0973	0.72244	1.0:0.0:0.0:0.0	.	92	P61366	OSTN_HUMAN	G	92	.	ENSP00000342356:D92G	D	+	2	0	OSTN	192419402	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.925000	0.75829	2.170000	0.68504	0.459000	0.35465	GAC		0.378	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184	
KCNH8	131096	broad.mit.edu	37	3	19479730	19479730	+	Nonsense_Mutation	SNP	C	C	T	rs533219014		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:19479730C>T	ENST00000328405.2	+	8	1518	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	KCNH8_ENST00000537696.1_Nonsense_Mutation_p.R59*	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	418					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R418*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CCCGTCGATCCGAAGTGCCTA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18004	0.0		0.0	False		,,,				2504	0.001				p.R418X	NSCLC(124;1625 1765 8018 24930 42026)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1252T	3						.						151.0	149.0	150.0					3																	19479730		2203	4300	6503	19454734	SO:0001587	stop_gained	131096	exon8			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1252C>T	3.37:g.19479730C>T	ENSP00000328813:p.Arg418*		19454734	NM_144633	B7Z2I7|Q59GQ6	Nonsense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	40	8.418366	0.98803	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	.	.	.	5.6	4.67	0.58626	.	0.000000	0.28225	U	0.016127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8367	0.52327	0.3424:0.6576:0.0:0.0	.	.	.	.	X	418;59	.	.	R	+	1	2	KCNH8	19454734	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.144000	0.50616	2.630000	0.89119	0.555000	0.69702	CGA		0.493	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
CCDC50	152137	broad.mit.edu	37	3	191087744	191087744	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:191087744G>A	ENST00000392455.3	+	5	965	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	CCDC50_ENST00000392456.3_Missense_Mutation_p.E123K	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	123						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.E123K(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GGAGTTACAGGAAGAGAAAAA	0.403																																					p.E123K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G367A	3						.						123.0	129.0	127.0					3																	191087744		2203	4300	6503	192570438	SO:0001583	missense	152137	exon5			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.367G>A	3.37:g.191087744G>A	ENSP00000376249:p.Glu123Lys		192570438	NM_174908	Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772552	0.69992	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.47528	0.84;0.84	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.73598	2.24	0.39516	D	0.968433	D;D	0.71674	0.995;0.998	P;D	0.80764	0.894;0.994	T	0.71119	-0.4685	10	0.52906	T	0.07	.	14.1348	0.65279	0.0:0.0:1.0:0.0	.	123;123	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	K	123	ENSP00000376249:E123K;ENSP00000376250:E123K	ENSP00000376249:E123K	E	+	1	0	CCDC50	192570438	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	5.307000	0.65762	2.409000	0.81822	0.650000	0.86243	GAA		0.403	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	
OPA1	4976	broad.mit.edu	37	3	193332592	193332592	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:193332592G>A	ENST00000392438.3	+	2	347	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	OPA1_ENST00000361828.2_Missense_Mutation_p.R38Q|OPA1_ENST00000361150.2_Missense_Mutation_p.R38Q|OPA1_ENST00000361715.2_Missense_Mutation_p.R38Q|OPA1_ENST00000361908.3_Missense_Mutation_p.R38Q|OPA1_ENST00000361510.2_Missense_Mutation_p.R38Q|OPA1_ENST00000487986.1_3'UTR	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	38			Missing (in OPA1). {ECO:0000269|PubMed:12036970}.		apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.R38Q(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CTGGTTTCACGAAGCATTTAT	0.388																																					p.R38Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G113A	3	GRCh37	CD014021	OPA1	D		.						117.0	103.0	108.0					3																	193332592		2203	4300	6503	194815286	SO:0001583	missense	4976	exon2			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.113G>A	3.37:g.193332592G>A	ENSP00000376233:p.Arg38Gln		194815286	NM_130832	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183823	0.94885	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000392436	D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.98	5.98	0.97165	.	0.064498	0.64402	D	0.000004	D	0.84647	0.5518	L	0.59436	1.845	0.58432	D	0.999997	P;B;P;P;P;P;P;D	0.52996	0.553;0.052;0.688;0.824;0.85;0.804;0.804;0.957	B;B;B;B;B;B;B;B	0.41440	0.116;0.005;0.079;0.203;0.163;0.079;0.116;0.357	D	0.85907	0.1438	10	0.59425	D	0.04	-10.1713	12.7122	0.57096	0.0742:0.0:0.9258:0.0	.	38;38;38;38;38;38;38;38	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Q	38	ENSP00000354681:R38Q;ENSP00000376233:R38Q;ENSP00000355324:R38Q;ENSP00000355311:R38Q;ENSP00000354429:R38Q;ENSP00000354781:R38Q;ENSP00000376232:R38Q;ENSP00000376231:R38Q	ENSP00000354781:R38Q	R	+	2	0	OPA1	194815286	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.662000	0.74426	2.835000	0.97688	0.650000	0.86243	CGA		0.388	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	
ATP13A3	79572	broad.mit.edu	37	3	194162142	194162142	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:194162142G>A	ENST00000439040.1	-	16	2399	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	ATP13A3_ENST00000256031.4_Silent_p.S536S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	536						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CAACAAACTGGGATTTTACCA	0.353																																					p.S536S												.	.	0			c.C1608T	3						.						111.0	105.0	107.0					3																	194162142		1842	4095	5937	195643431	SO:0001819	synonymous_variant	79572	exon15			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.1608C>T	3.37:g.194162142G>A			195643431	NM_024524	Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	CCDS43187.1																																																																																				0.353	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	
LSG1	55341	broad.mit.edu	37	3	194362826	194362826	+	Missense_Mutation	SNP	G	G	A	rs201522065	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:194362826G>A	ENST00000265245.5	-	14	2262	c.1948C>T	c.(1948-1950)Cgt>Tgt	p.R650C	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	650					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R650C(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TAGAGTCTACGACTTTTTTCT	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18965	0.0		0.001	False		,,,				2504	0.0				p.R650C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1948T	3						.						135.0	141.0	139.0					3																	194362826		2203	4300	6503	195844115	SO:0001583	missense	55341	exon14				CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1948C>T	3.37:g.194362826G>A	ENSP00000265245:p.Arg650Cys		195844115	NM_018385	A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	CCDS33922.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.9	4.348879	0.82132	.	.	ENSG00000041802	ENST00000265245	T	0.26957	1.7	5.94	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63664	-0.6586	10	0.72032	D	0.01	.	16.3305	0.83010	0.0:0.0:0.8667:0.1333	.	650	Q9H089	LSG1_HUMAN	C	650	ENSP00000265245:R650C	ENSP00000265245:R650C	R	-	1	0	LSG1	195844115	1.000000	0.71417	0.968000	0.41197	0.838000	0.47535	6.419000	0.73345	1.477000	0.48234	0.643000	0.83706	CGT		0.502	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385	
PCYT1A	5130	broad.mit.edu	37	3	195974263	195974263	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:195974263G>A	ENST00000292823.2	-	6	633	c.461C>T	c.(460-462)aCa>aTa	p.T154I	PCYT1A_ENST00000419333.1_Missense_Mutation_p.T154I|PCYT1A_ENST00000431016.1_Missense_Mutation_p.T154I|PCYT1A_ENST00000491544.1_5'Flank	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	154					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)	p.T154I(1)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GAACTCGGGTGTCAGCGTCCA	0.547																																					p.T154I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C461T	3						.						202.0	176.0	185.0					3																	195974263		2203	4300	6503	197458660	SO:0001583	missense	5130	exon6			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.461C>T	3.37:g.195974263G>A	ENSP00000292823:p.Thr154Ile		197458660	NM_005017	A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.589474	0.86851	.	.	ENSG00000161217	ENST00000441879;ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	D;D;D;D;D;D;D	0.96587	-4.06;-3.86;-3.86;-3.86;-3.86;-3.86;-3.86	5.58	5.58	0.84498	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.095571	0.64402	D	0.000001	D	0.98046	0.9356	M	0.90922	3.16	0.49299	D	0.999778	P	0.52316	0.952	P	0.57960	0.83	D	0.98597	1.0657	10	0.72032	D	0.01	-39.4429	14.2565	0.66055	0.0:0.1487:0.8513:0.0	.	154	P49585	PCY1A_HUMAN	I	154;154;154;115;154;154;27;88	ENSP00000392397:T154I;ENSP00000390968:T154I;ENSP00000292823:T154I;ENSP00000394617:T154I;ENSP00000400430:T154I;ENSP00000390458:T27I;ENSP00000402283:T88I	ENSP00000292823:T154I	T	-	2	0	PCYT1A	197458660	1.000000	0.71417	0.960000	0.40013	0.986000	0.74619	6.207000	0.72159	2.634000	0.89283	0.645000	0.84053	ACA		0.547	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017	
TM4SF19	116211	broad.mit.edu	37	3	196050736	196050736	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:196050736A>G	ENST00000273695.3	-	5	707	c.582T>C	c.(580-582)caT>caC	p.H194H	TM4SF19_ENST00000446879.1_Missense_Mutation_p.M193T|TM4SF19_ENST00000442633.1_Silent_p.H194H|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000454715.1_Silent_p.H168H	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	194						integral component of membrane (GO:0016021)		p.H194H(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TGTTGATGACATGAACGACCA	0.572																																					p.H194H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T582C	3						.						91.0	88.0	89.0					3																	196050736		2203	4300	6503	197535133	SO:0001819	synonymous_variant	116211	exon5			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.582T>C	3.37:g.196050736A>G			197535133	NM_138461	B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	CCDS3316.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.033|1.033	-0.681105|-0.681105	0.03353|0.03353	.|.	.|.	ENSG00000145107|ENSG00000145107	ENST00000440822|ENST00000446879	.|T	.|0.24908	.|1.83	5.31|5.31	-5.61|-5.61	0.02489|0.02489	.|.	.|.	.|.	.|.	.|.	T|T	0.07503|0.07503	0.0189|0.0189	.|.	.|.	.|.	0.22975|0.22975	N|N	0.998485|0.998485	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.41413|0.41413	-0.9510|-0.9510	4|8	.|0.02654	.|T	.|1	-15.5629|-15.5629	6.8741|6.8741	0.24137|0.24137	0.396:0.0:0.4697:0.1343|0.396:0.0:0.4697:0.1343	.|.	.|193	.|C9JCD5	.|.	R|T	61|193	.|ENSP00000395280:M193T	.|ENSP00000395280:M193T	C|M	-|-	1|2	0|0	TM4SF19|TM4SF19	197535133|197535133	0.001000|0.001000	0.12720|0.12720	0.017000|0.017000	0.16124|0.16124	0.150000|0.150000	0.21749|0.21749	-0.385000|-0.385000	0.07379|0.07379	-0.512000|-0.512000	0.06505|0.06505	-1.366000|-1.366000	0.01203|0.01203	TGT|ATG		0.572	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461	
UBXN7	26043	broad.mit.edu	37	3	196118758	196118758	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:196118758C>T	ENST00000296328.4	-	5	468	c.394G>A	c.(394-396)Gat>Aat	p.D132N	UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_5'UTR|RNU6-1279P_ENST00000383917.1_RNA	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	132						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AATTTCTTATCGATAGCTCCT	0.373																																					p.D132N												.	.	0			c.G394A	3						.						190.0	173.0	178.0					3																	196118758		1847	4092	5939	197603155	SO:0001583	missense	26043	exon5			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.394G>A	3.37:g.196118758C>T	ENSP00000296328:p.Asp132Asn		197603155	NM_015562	D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	CCDS43191.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.096857|4.096857	0.76870|0.76870	.|.	.|.	ENSG00000163960|ENSG00000163960	ENST00000296328|ENST00000381887	T|.	0.14266|.	2.52|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69196|0.69196	0.3084|0.3084	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P|.	0.47409|.	0.895|.	B|.	0.37239|.	0.244|.	T|T	0.64618|0.64618	-0.6365|-0.6365	10|5	0.18710|.	T|.	0.47|.	-13.5332|-13.5332	19.1225|19.1225	0.93369|0.93369	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132|.	O94888|.	UBXN7_HUMAN|.	N|Q	132|109	ENSP00000296328:D132N|.	ENSP00000296328:D132N|.	D|R	-|-	1|2	0|0	UBXN7|UBXN7	197603155|197603155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.278000|0.278000	0.26855|0.26855	7.045000|7.045000	0.76585|0.76585	2.616000|2.616000	0.88540|0.88540	0.563000|0.563000	0.77884|0.77884	GAT|CGA		0.373	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353	
CEP19	84984	broad.mit.edu	37	3	196434669	196434669	+	Missense_Mutation	SNP	G	G	A	rs543733692		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:196434669G>A	ENST00000399942.4	-	2	434	c.140C>T	c.(139-141)tCg>tTg	p.S47L	RNU6-646P_ENST00000364571.1_RNA|CEP19_ENST00000409690.3_Missense_Mutation_p.S86L			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	82						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.S82L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						ACTCTGCCCCGACAAGTAACC	0.433																																					p.S86L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C257T	3						.						167.0	157.0	160.0					3																	196434669		1891	4115	6006	197919066	SO:0001583	missense	84984	exon3			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.140C>T	3.37:g.196434669G>A	ENSP00000382823:p.Ser47Leu		197919066	NM_032898	B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37		.	.	.	.	.	.	.	.	.	.	G	5.573	0.290602	0.10567	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.56	-2.05	0.07321	.	0.960883	0.08806	N	0.890994	T	0.28433	0.0703	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25117	-1.0141	9	0.35671	T	0.21	8.9266	2.7612	0.05306	0.0938:0.3623:0.1959:0.348	.	82	Q96LK0	CEP19_HUMAN	L	86;47	.	ENSP00000382823:S47L	S	-	2	0	CEP19	197919066	0.000000	0.05858	0.002000	0.10522	0.448000	0.32197	0.041000	0.13927	-0.491000	0.06697	-0.165000	0.13383	TCG		0.433	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898	
PIGX	54965	broad.mit.edu	37	3	196460750	196460750	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:196460750A>C	ENST00000314118.4	+	6	913	c.631A>C	c.(631-633)Aaa>Caa	p.K211Q	PIGX_ENST00000541663.1_Missense_Mutation_p.K162Q	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	252					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.K211Q(1)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		AGCAGTTTTCAAATATGGCCA	0.363																																					p.K252Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A754C	3						.						196.0	173.0	181.0					3																	196460750		2202	4300	6502	197945147	SO:0001583	missense	54965	exon6			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000314118.4:c.631A>C	3.37:g.196460750A>C	ENSP00000317301:p.Lys211Gln		197945147	NM_017861	Q9NWZ2	Missense_Mutation	SNP	ENST00000314118.4	37		.	.	.	.	.	.	.	.	.	.	A	18.01	3.527778	0.64860	.	.	ENSG00000163964	ENST00000392391;ENST00000314118;ENST00000296333;ENST00000541663	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.94	4.78	0.61160	.	0.264665	0.35838	N	0.002956	T	0.40297	0.1111	L	0.47716	1.5	0.29471	N	0.857014	D;D	0.58268	0.968;0.982	P;P	0.57620	0.715;0.824	T	0.37709	-0.9694	10	0.72032	D	0.01	-8.3868	8.9387	0.35715	0.9161:0.0:0.0839:0.0	.	270;252	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	Q	252;211;270;162	ENSP00000376192:K252Q;ENSP00000317301:K211Q;ENSP00000296333:K270Q;ENSP00000443269:K162Q	ENSP00000296333:K270Q	K	+	1	0	PIGX	197945147	1.000000	0.71417	0.994000	0.49952	0.485000	0.33311	4.967000	0.63722	1.072000	0.40860	0.528000	0.53228	AAA		0.363	PIGX-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017861	
SENP5	205564	broad.mit.edu	37	3	196612776	196612776	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:196612776C>T	ENST00000323460.5	+	2	973	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.R242W	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	242					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GATTAGATTTCGGTACAGGAT	0.418																																					p.R242W	Ovarian(47;891 1095 11174 13858 51271)											.	.	0			c.C724T	3						.						42.0	47.0	45.0					3																	196612776		2200	4299	6499	198097173	SO:0001583	missense	205564	exon2			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.724C>T	3.37:g.196612776C>T	ENSP00000327197:p.Arg242Trp		198097173	NM_152699	B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511232	0.64522	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.59364	0.27;0.27	5.58	5.58	0.84498	.	0.339445	0.25487	N	0.030337	T	0.66046	0.2750	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.67548	0.765;0.952	T	0.67814	-0.5573	10	0.87932	D	0	-4.7463	15.4569	0.75321	0.0:1.0:0.0:0.0	.	242;242	B4DY82;Q96HI0	.;SENP5_HUMAN	W	242	ENSP00000327197:R242W;ENSP00000390231:R242W	ENSP00000327197:R242W	R	+	1	2	SENP5	198097173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.224000	0.51238	2.793000	0.96121	0.655000	0.94253	CGG		0.418	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699	
DLG1	1739	broad.mit.edu	37	3	196921339	196921339	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:196921339T>G	ENST00000419354.1	-	5	726	c.440A>C	c.(439-441)aAt>aCt	p.N147T	DLG1_ENST00000450955.1_Missense_Mutation_p.N147T|DLG1_ENST00000314062.3_Missense_Mutation_p.N147T|DLG1_ENST00000357674.4_Missense_Mutation_p.N147T|DLG1_ENST00000422288.1_Missense_Mutation_p.N147T|DLG1_ENST00000448528.2_Missense_Mutation_p.N147T|DLG1_ENST00000392382.2_Missense_Mutation_p.N147T|DLG1_ENST00000346964.2_Missense_Mutation_p.N147T|DLG1_ENST00000485409.1_5'UTR			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	147					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)	p.N147T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TCCATGGACATTCTCAATCTC	0.323																																					p.N147T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A440C	3						.						133.0	125.0	128.0					3																	196921339		2203	4300	6503	198405736	SO:0001583	missense	1739	exon5			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.440A>C	3.37:g.196921339T>G	ENSP00000407531:p.Asn147Thr		198405736	NM_004087	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282593	0.59867	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000422288;ENST00000448528;ENST00000392382;ENST00000450955;ENST00000453607;ENST00000456699;ENST00000392380;ENST00000419553	T;T;T;T;T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.55	5.55	0.83447	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	L	0.59436	1.845	0.58432	D	0.999998	B;B;B;B	0.31910	0.317;0.317;0.346;0.317	B;B;B;B	0.38225	0.164;0.164;0.268;0.164	T	0.49123	-0.8972	10	0.21014	T	0.42	.	14.8666	0.70422	0.0:0.0:0.0:1.0	.	147;147;147;147	Q12959-4;Q12959-3;Q12959;Q12959-2	.;.;DLG1_HUMAN;.	T	147;147;147;147;147;147;147;147;147;147;51;147;147;147	ENSP00000345731:N147T;ENSP00000350303:N147T;ENSP00000321087:N147T;ENSP00000407531:N147T;ENSP00000413238:N147T;ENSP00000391732:N147T;ENSP00000376187:N147T;ENSP00000411278:N147T;ENSP00000412579:N51T;ENSP00000396474:N147T;ENSP00000376185:N147T;ENSP00000414189:N147T	ENSP00000321087:N147T	N	-	2	0	DLG1	198405736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.679000	0.84048	2.110000	0.64415	0.460000	0.39030	AAT		0.323	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087	
FYTTD1	84248	broad.mit.edu	37	3	197483411	197483411	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:197483411G>A	ENST00000241502.4	+	2	440	c.218G>A	c.(217-219)gGa>gAa	p.G73E	FYTTD1_ENST00000415708.2_Missense_Mutation_p.G47E|FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000424384.2_Missense_Mutation_p.G6E	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	73					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.G73E(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GTGCGATGGGGAATCCAACAG	0.403																																					p.G47E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G140A	3						.						134.0	142.0	139.0					3																	197483411		2203	4300	6503	198967808	SO:0001583	missense	84248	exon3			AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.218G>A	3.37:g.197483411G>A	ENSP00000241502:p.Gly73Glu		198967808	NM_001011537	A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189303	0.78789	.	.	ENSG00000122068	ENST00000428738;ENST00000415708;ENST00000241502;ENST00000426031;ENST00000424384	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.6	5.6	0.85130	.	0.056532	0.64402	D	0.000001	T	0.73497	0.3594	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.961;1.0	P;D	0.97110	0.659;1.0	T	0.74475	-0.3653	10	0.66056	D	0.02	-15.4744	15.5332	0.75980	0.0:0.0:1.0:0.0	.	47;73	Q96QD9-2;Q96QD9	.;UIF_HUMAN	E	6;47;73;6;6	ENSP00000399896:G6E;ENSP00000393746:G47E;ENSP00000241502:G73E;ENSP00000389557:G6E;ENSP00000394631:G6E	ENSP00000241502:G73E	G	+	2	0	FYTTD1	198967808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.578000	0.60929	2.812000	0.96745	0.555000	0.69702	GGA		0.403	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288	
LRCH3	84859	broad.mit.edu	37	3	197547259	197547259	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:197547259G>T	ENST00000425562.2	+	4	598	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	LRCH3_ENST00000334859.4_Missense_Mutation_p.D200Y|LRCH3_ENST00000414675.2_Missense_Mutation_p.D200Y|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000493726.1_3'UTR|LRCH3_ENST00000438796.2_Missense_Mutation_p.D200Y			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	200						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.D200Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GGCCTTGAGAGACCTTAATGT	0.328																																					p.D200Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G598T	3						.						103.0	104.0	103.0					3																	197547259		2203	4300	6503	199031656	SO:0001583	missense	84859	exon4			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.598G>T	3.37:g.197547259G>T	ENSP00000393579:p.Asp200Tyr		199031656	NM_032773	B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37		.	.	.	.	.	.	.	.	.	.	G	27.7	4.859565	0.91433	.	.	ENSG00000186001	ENST00000438796;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.50837	0.1639	N	0.01742	-0.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.995;0.999;0.976	T	0.70274	-0.4917	10	0.87932	D	0	-21.2611	19.5801	0.95464	0.0:0.0:1.0:0.0	.	200;200;200	B4E0T7;Q96II8-2;Q96II8-3	.;.;.	Y	200	ENSP00000399751:D200Y;ENSP00000394965:D200Y;ENSP00000334375:D200Y;ENSP00000393579:D200Y	ENSP00000334375:D200Y	D	+	1	0	LRCH3	199031656	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.288000	0.96055	2.712000	0.92718	0.650000	0.86243	GAC		0.328	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773	
CHL1	10752	broad.mit.edu	37	3	402097	402097	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:402097T>C	ENST00000256509.2	+	12	1938	c.1296T>C	c.(1294-1296)atT>atC	p.I432I	CHL1_ENST00000397491.2_Silent_p.I416I|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.I432I(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATGCCAATATTGATGTTGTGG	0.428																																					p.I432I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1296C	3						.						234.0	213.0	220.0					3																	402097		2203	4300	6503	377097	SO:0001819	synonymous_variant	10752	exon12			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1296T>C	3.37:g.402097T>C			377097	NM_006614	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	CCDS2556.1																																																																																				0.428	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614	
IL5RA	3568	broad.mit.edu	37	3	3143430	3143430	+	Missense_Mutation	SNP	C	C	T	rs376063854	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:3143430C>T	ENST00000446632.2	-	5	887	c.313G>A	c.(313-315)Gac>Aac	p.D105N	IL5RA_ENST00000445864.2_Missense_Mutation_p.D105N|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000438560.1_Missense_Mutation_p.D105N|IL5RA_ENST00000456302.1_Missense_Mutation_p.D105N|IL5RA_ENST00000311981.8_Missense_Mutation_p.D105N|IL5RA_ENST00000256452.3_Missense_Mutation_p.D105N|IL5RA_ENST00000418488.2_Missense_Mutation_p.D105N|IL5RA_ENST00000383846.1_Missense_Mutation_p.D105N|IL5RA_ENST00000430514.2_Missense_Mutation_p.D105N	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	105	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.D105N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGTGAGTGGTCGTTCTGCAGG	0.473													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18043	0.0		0.0	False		,,,				2504	0.0				p.D105N	GBM(169;430 2801 24955 28528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G313A	3						.	C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	115.0	107.0	110.0		313,313,313,313,313,313	1.2	0.0	3		110	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	IL5RA	NM_000564.4,NM_175724.2,NM_175725.2,NM_175726.3,NM_175727.2,NM_175728.2	23,23,23,23,23,23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign,benign,benign	105/421,105/334,105/336,105/421,105/334,105/336	3143430	2,13004	2203	4300	6503	3118430	SO:0001583	missense	3568	exon6			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.313G>A	3.37:g.3143430C>T	ENSP00000412209:p.Asp105Asn		3118430	NM_000564	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	C	5.872	0.345073	0.11126	4.54E-4	0.0	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	D;D;D;T;T;T;T;T;T;T	0.86230	-2.09;-1.99;-2.09;1.38;1.44;1.42;1.42;1.43;1.43;1.64	5.19	1.2	0.21068	Immunoglobulin-like fold (1);	1.597080	0.03167	N	0.170198	T	0.74473	0.3721	N	0.16307	0.4	0.09310	N	1	B;B;B;B;B;B	0.25743	0.018;0.025;0.025;0.018;0.133;0.053	B;B;B;B;B;B	0.19946	0.002;0.002;0.003;0.002;0.027;0.005	T	0.60777	-0.7196	10	0.09338	T	0.73	0.153	4.4789	0.11757	0.0:0.4156:0.3133:0.2711	.	105;105;105;105;105;105	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	N	105	ENSP00000412209:D105N;ENSP00000390753:D105N;ENSP00000256452:D105N;ENSP00000388858:D105N;ENSP00000402598:D105N;ENSP00000373358:D105N;ENSP00000309196:D105N;ENSP00000400400:D105N;ENSP00000392059:D105N;ENSP00000398117:D105N	ENSP00000256452:D105N	D	-	1	0	IL5RA	3118430	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.616000	0.05591	-0.061000	0.13110	0.650000	0.86243	GAC		0.473	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
IL5RA	3568	broad.mit.edu	37	3	3144448	3144448	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:3144448G>T	ENST00000446632.2	-	4	713	c.139C>A	c.(139-141)Ctt>Att	p.L47I	IL5RA_ENST00000445864.2_Missense_Mutation_p.L47I|SNORA43_ENST00000517240.1_RNA|IL5RA_ENST00000438560.1_Missense_Mutation_p.L47I|IL5RA_ENST00000456302.1_Missense_Mutation_p.L47I|IL5RA_ENST00000311981.8_Missense_Mutation_p.L47I|IL5RA_ENST00000256452.3_Missense_Mutation_p.L47I|IL5RA_ENST00000418488.2_Missense_Mutation_p.L47I|IL5RA_ENST00000383846.1_Missense_Mutation_p.L47I|IL5RA_ENST00000430514.2_Missense_Mutation_p.L47I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	47	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.L47I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CATTGTAAAAGAACTTGAGCC	0.343																																					p.L47I	GBM(169;430 2801 24955 28528)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C139A	3						.						92.0	90.0	91.0					3																	3144448		2203	4300	6503	3119448	SO:0001583	missense	3568	exon5			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.139C>A	3.37:g.3144448G>T	ENSP00000412209:p.Leu47Ile		3119448	NM_000564	B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	ENST00000446632.2	37	CCDS2559.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267916	0.40095	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000445864;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701;ENST00000427088	T;T;T;D;D;T;T;T;T;D;T	0.98362	0.92;0.92;0.92;-4.89;-4.89;0.92;0.92;0.92;0.92;-4.89;0.92	4.8	3.9	0.45041	Immunoglobulin-like fold (1);	0.113095	0.39909	N	0.001221	D	0.96479	0.8851	L	0.58669	1.825	0.34122	D	0.664254	P;P;P;B;P;P	0.40660	0.7;0.585;0.585;0.449;0.663;0.726	B;B;B;B;B;B	0.41202	0.106;0.215;0.215;0.106;0.35;0.26	D	0.96934	0.9683	10	0.21540	T	0.41	-14.2468	12.2029	0.54337	0.0:0.1723:0.8277:0.0	.	47;47;47;47;47;47	B4E2G0;Q01344-3;Q01344-2;Q01344;B3IU77;E7ERY4	.;.;.;IL5RA_HUMAN;.;.	I	47	ENSP00000412209:L47I;ENSP00000390753:L47I;ENSP00000256452:L47I;ENSP00000388858:L47I;ENSP00000402598:L47I;ENSP00000373358:L47I;ENSP00000309196:L47I;ENSP00000400400:L47I;ENSP00000392059:L47I;ENSP00000398117:L47I;ENSP00000391274:L47I	ENSP00000256452:L47I	L	-	1	0	IL5RA	3119448	1.000000	0.71417	0.245000	0.24217	0.913000	0.54294	3.231000	0.51294	1.086000	0.41228	0.557000	0.71058	CTT		0.343	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337537.2		
ITPR1	3708	broad.mit.edu	37	3	4687281	4687281	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:4687281C>T	ENST00000443694.2	+	8	724	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	ITPR1_ENST00000544951.1_Silent_p.L242L|ITPR1_ENST00000423119.2_Silent_p.L242L|ITPR1_ENST00000456211.2_Silent_p.L242L|ITPR1_ENST00000354582.6_Silent_p.L242L|ITPR1_ENST00000357086.4_Silent_p.L242L|ITPR1_ENST00000302640.8_Silent_p.L242L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	242	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.L242L(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CGTGGTGAGGCTGTTTCATGC	0.488																																					p.L242L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C724T	3						.						45.0	43.0	44.0					3																	4687281		2049	4228	6277	4662281	SO:0001819	synonymous_variant	3708	exon10			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.724C>T	3.37:g.4687281C>T			4662281	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																				0.488	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
ITPR1	3708	broad.mit.edu	37	3	4853086	4853086	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:4853086C>A	ENST00000443694.2	+	53	7365	c.7365C>A	c.(7363-7365)ttC>ttA	p.F2455L	ITPR1_ENST00000302640.8_Missense_Mutation_p.F2455L|ITPR1_ENST00000423119.2_Missense_Mutation_p.F2422L|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_5'Flank|ITPR1_ENST00000544951.1_Missense_Mutation_p.F433L|ITPR1_ENST00000456211.2_Missense_Mutation_p.F2407L|ITPR1_ENST00000354582.6_Missense_Mutation_p.F2455L|ITPR1_ENST00000357086.4_Missense_Mutation_p.F2422L			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2470					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.F2407L(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCTATCTTTTCTTCAAGGATG	0.423																																					p.F2422L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7266A	3						.						139.0	139.0	139.0					3																	4853086		1955	4142	6097	4828086	SO:0001583	missense	3708	exon53			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7365C>A	3.37:g.4853086C>A	ENSP00000401671:p.Phe2455Leu		4828086	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579834	0.86645	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	5.62	5.62	0.85841	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.86740	2.835	0.80722	D	1	P;B;B	0.42248	0.774;0.224;0.047	P;B;B	0.55667	0.781;0.301;0.093	D	0.98655	1.0681	10	0.54805	T	0.06	.	19.6534	0.95827	0.0:1.0:0.0:0.0	.	433;2470;2422	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	L	2470;2455;2455;2422;916;2422;2407;433;2455	ENSP00000306253:F2455L;ENSP00000346595:F2455L;ENSP00000405934:F2422L;ENSP00000349597:F2422L;ENSP00000397885:F2407L;ENSP00000440564:F433L;ENSP00000401671:F2455L	ENSP00000306253:F2455L	F	+	3	2	ITPR1	4828086	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.724000	0.84798	2.653000	0.90120	0.563000	0.77884	TTC		0.423	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
BHLHE40	8553	broad.mit.edu	37	3	5022090	5022090	+	Silent	SNP	T	T	G	rs115823750	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:5022090T>G	ENST00000256495.3	+	3	858	c.255T>G	c.(253-255)ctT>ctG	p.L85L	BHLHE40-AS1_ENST00000441386.2_RNA|BHLHE40-AS1_ENST00000420832.1_RNA|BHLHE40-AS1_ENST00000434530.1_RNA	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	85	Essential for its interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L85L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						ATCTCAAACTTACAGTAAGTG	0.582											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L85L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T255G	3						.						53.0	55.0	54.0					3																	5022090		2203	4300	6503	4997090	SO:0001819	synonymous_variant	8553	exon3			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.255T>G	3.37:g.5022090T>G		623	4997090	NM_003670	Q96TD3	Silent	SNP	ENST00000256495.3	37	CCDS2565.1																																																																																				0.582	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670	
GRM7	2917	broad.mit.edu	37	3	7721965	7721965	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:7721965A>C	ENST00000357716.4	+	9	2955	c.2681A>C	c.(2680-2682)gAa>gCa	p.E894A	GRM7_ENST00000402647.2_Missense_Mutation_p.E894A|GRM7_ENST00000486284.1_Missense_Mutation_p.E894A|GRM7_ENST00000389336.4_Missense_Mutation_p.E894A|GRM7_ENST00000403881.1_Missense_Mutation_p.E894A	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	894					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.E894A(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GAGCTCTGTGAAAACGTAGAC	0.527																																					p.E894A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2681C	3						.						101.0	70.0	81.0					3																	7721965		2203	4300	6503	7696965	SO:0001583	missense	2917	exon9			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2681A>C	3.37:g.7721965A>C	ENSP00000350348:p.Glu894Ala		7696965	NM_000844	Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400153	0.83120	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647	D;D;D;D;D	0.89875	-2.51;-2.58;-2.54;-2.54;-2.58	5.07	5.07	0.68467	.	0.115295	0.64402	D	0.000008	D	0.92599	0.7649	M	0.64404	1.975	0.58432	D	0.999997	D;P;D;P	0.67145	0.996;0.956;0.993;0.68	D;P;D;B	0.73708	0.981;0.899;0.956;0.373	D	0.91597	0.5292	10	0.33940	T	0.23	.	13.9553	0.64144	1.0:0.0:0.0:0.0	.	894;649;894;894	Q14831-5;Q59G95;Q14831;Q14831-2	.;.;GRM7_HUMAN;.	A	894	ENSP00000350348:E894A;ENSP00000417536:E894A;ENSP00000373987:E894A;ENSP00000385664:E894A;ENSP00000384585:E894A	ENSP00000350348:E894A	E	+	2	0	GRM7	7696965	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.030000	0.59900	0.482000	0.46254	GAA		0.527	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844	
LMCD1	29995	broad.mit.edu	37	3	8574502	8574502	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:8574502A>C	ENST00000157600.3	+	2	354	c.122A>C	c.(121-123)cAt>cCt	p.H41P	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Silent_p.T14T|LMCD1_ENST00000454244.1_Intron|LMCD1_ENST00000535732.1_Missense_Mutation_p.H41P	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	41	Cys-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.H41P(1)		breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TTCGAGCCACATTCATGGAGG	0.537																																					p.H41P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A122C	3						.						136.0	132.0	133.0					3																	8574502		2203	4300	6503	8549502	SO:0001583	missense	29995	exon2			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.122A>C	3.37:g.8574502A>C	ENSP00000157600:p.His41Pro		8549502	NM_014583	B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390062	0.82902	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732	T;T;T	0.60548	0.18;0.18;0.18	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000002	T	0.79446	0.4447	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.83777	0.0223	10	0.87932	D	0	-21.5253	14.2222	0.65836	1.0:0.0:0.0:0.0	.	41	Q9NZU5	LMCD1_HUMAN	P	41;47;41	ENSP00000157600:H41P;ENSP00000400555:H47P;ENSP00000441100:H41P	ENSP00000157600:H41P	H	+	2	0	LMCD1	8549502	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	6.467000	0.73547	2.045000	0.60652	0.383000	0.25322	CAT		0.537	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583	
LMCD1	29995	broad.mit.edu	37	3	8578904	8578904	+	Silent	SNP	G	G	A	rs373886334		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:8578904G>A	ENST00000157600.3	+	3	397	c.165G>A	c.(163-165)gaG>gaA	p.E55E	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_5'UTR|LMCD1_ENST00000535732.1_Silent_p.E55E	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	55	Cys-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E55E(1)		breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCAGCCAAGAGGACCACTGCC	0.527																																					p.E55E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G165A	3						.						69.0	65.0	67.0					3																	8578904		2203	4300	6503	8553904	SO:0001819	synonymous_variant	29995	exon3			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.165G>A	3.37:g.8578904G>A			8553904	NM_014583	B4DG80	Silent	SNP	ENST00000157600.3	37	CCDS33688.1																																																																																				0.527	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583	
OXTR	5021	broad.mit.edu	37	3	8794818	8794818	+	Missense_Mutation	SNP	C	C	T	rs143927655		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:8794818C>T	ENST00000316793.3	-	4	1639	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	339					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)	p.E339K(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	TGCACGAGTTCGTGGAAGAGG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19847	0.0		0.0	False		,,,				2504	0.001				p.E339K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1015A	3						.	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	72.0	64.0	66.0		1015	5.1	1.0	3	dbSNP_134	66	16,8584	11.9+/-42.8	0,16,4284	yes	missense	OXTR	NM_000916.3	56	0,17,6486	TT,TC,CC		0.186,0.0227,0.1307	benign	339/390	8794818	17,12989	2203	4300	6503	8769818	SO:0001583	missense	5021	exon4				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.1015G>A	3.37:g.8794818C>T	ENSP00000324270:p.Glu339Lys		8769818	NM_000916	Q15071	Missense_Mutation	SNP	ENST00000316793.3	37	CCDS2570.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520999	0.85495	2.27E-4	0.00186	ENSG00000180914	ENST00000316793	T	0.37058	1.22	5.13	5.13	0.70059	.	0.049098	0.85682	D	0.000000	T	0.28830	0.0715	L	0.36672	1.1	0.58432	D	0.999994	P	0.34909	0.475	B	0.26416	0.069	T	0.06144	-1.0843	10	0.38643	T	0.18	-13.4246	17.3169	0.87227	0.0:1.0:0.0:0.0	.	339	P30559	OXYR_HUMAN	K	339	ENSP00000324270:E339K	ENSP00000324270:E339K	E	-	1	0	OXTR	8769818	1.000000	0.71417	0.982000	0.44146	0.950000	0.60333	7.539000	0.82063	2.655000	0.90218	0.655000	0.94253	GAA		0.602	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2		
MTMR14	64419	broad.mit.edu	37	3	9719030	9719030	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:9719030C>T	ENST00000296003.4	+	8	903	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	MTMR14_ENST00000353332.5_Missense_Mutation_p.R261W|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Missense_Mutation_p.R261W	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	261					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATATAAAGATCGGGATTACAT	0.443																																					p.R261W												.	.	0			c.C781T	3						.						142.0	131.0	134.0					3																	9719030		1866	4108	5974	9694030	SO:0001583	missense	64419	exon8			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.781C>T	3.37:g.9719030C>T	ENSP00000296003:p.Arg261Trp		9694030	NM_022485	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976117	0.92982	.	.	ENSG00000163719	ENST00000353332;ENST00000296003;ENST00000351233;ENST00000419048;ENST00000431250	D	0.89681	-2.55	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.977;0.922	D	0.94016	0.7288	10	0.87932	D	0	-0.0055	19.2572	0.93951	0.0:1.0:0.0:0.0	.	261;261;261	Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;MTMRE_HUMAN	W	261;261;261;261;33	ENSP00000388746:R33W	ENSP00000296003:R261W	R	+	1	2	MTMR14	9694030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.117000	0.50407	2.541000	0.85698	0.655000	0.94253	CGG		0.443	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485	
CAMK1	8536	broad.mit.edu	37	3	9804710	9804710	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:9804710C>T	ENST00000256460.3	-	5	494	c.317G>A	c.(316-318)cGt>cAt	p.R106H	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.R106H(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCCACAATACGGTCAAAGAG	0.597																																					p.R106H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G317A	3						.						53.0	50.0	51.0					3																	9804710		2203	4300	6503	9779710	SO:0001583	missense	8536	exon5			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.317G>A	3.37:g.9804710C>T	ENSP00000256460:p.Arg106His		9779710	NM_003656	Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899764	0.91962	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.64991	-0.13;-0.13	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	N	0.25485	0.75	0.80722	D	1	D	0.65815	0.995	D	0.64776	0.929	T	0.73385	-0.3999	10	0.72032	D	0.01	-15.2247	18.4587	0.90731	0.0:1.0:0.0:0.0	.	106	Q14012	KCC1A_HUMAN	H	106;62	ENSP00000256460:R106H;ENSP00000404587:R62H	ENSP00000256460:R106H	R	-	2	0	CAMK1	9779710	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.775000	0.85489	2.357000	0.79964	0.462000	0.41574	CGT		0.597	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656	
EMC3	55831	broad.mit.edu	37	3	10005795	10005795	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:10005795G>A	ENST00000245046.2	-	8	1202	c.744C>T	c.(742-744)ttC>ttT	p.F248F	RP11-1020A11.2_ENST00000602436.1_RNA	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	248						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.F248F(2)									ACATGCCTTCGAAGTGGAGGT	0.463																																					p.F248F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C744T	3						.						138.0	130.0	133.0					3																	10005795		2203	4300	6503	9980795	SO:0001819	synonymous_variant	55831	exon8			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.744C>T	3.37:g.10005795G>A			9980795	NM_018447	B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	ENST00000245046.2	37	CCDS2594.1																																																																																				0.463	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250532.1	NM_018447	
KAT2B	8850	broad.mit.edu	37	3	20167466	20167466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:20167466G>T	ENST00000263754.4	+	10	1938	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	495					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.E495*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GGGTGTAATTGAATTTCACGT	0.507																																					p.E495X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1483T	3						.						106.0	103.0	104.0					3																	20167466		2203	4300	6503	20142470	SO:0001587	stop_gained	8850	exon10			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1483G>T	3.37:g.20167466G>T	ENSP00000263754:p.Glu495*		20142470	NM_003884	Q6NSK1	Nonsense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	39	7.868156	0.98534	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.9293	18.9006	0.92440	0.0:0.0:1.0:0.0	.	.	.	.	X	495	.	ENSP00000263754:E495X	E	+	1	0	KAT2B	20142470	1.000000	0.71417	0.983000	0.44433	0.036000	0.12997	9.813000	0.99286	2.551000	0.86045	0.655000	0.94253	GAA		0.507	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
KAT2B	8850	broad.mit.edu	37	3	20167577	20167577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:20167577G>T	ENST00000263754.4	+	10	2049	c.1594G>T	c.(1594-1596)Gaa>Taa	p.E532*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	532	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.E532*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AATGCCAAAAGAATACATCAC	0.448																																					p.E532X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1594T	3						.						57.0	56.0	56.0					3																	20167577		2203	4300	6503	20142581	SO:0001587	stop_gained	8850	exon10			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1594G>T	3.37:g.20167577G>T	ENSP00000263754:p.Glu532*		20142581	NM_003884	Q6NSK1	Nonsense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	43	10.482673	0.99413	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.9919	19.1058	0.93294	0.0:0.0:1.0:0.0	.	.	.	.	X	532	.	ENSP00000263754:E532X	E	+	1	0	KAT2B	20142581	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	9.813000	0.99286	2.600000	0.87896	0.655000	0.94253	GAA		0.448	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
KAT2B	8850	broad.mit.edu	37	3	20181725	20181725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:20181725G>T	ENST00000263754.4	+	13	2328	c.1873G>T	c.(1873-1875)Gaa>Taa	p.E625*	MIR3135A_ENST00000578460.1_RNA	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	625	N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.E625*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTTCTCCAAAGAAATTAAAAT	0.378																																					p.E625X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1873T	3						.						61.0	64.0	63.0					3																	20181725		2203	4300	6503	20156729	SO:0001587	stop_gained	8850	exon13			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1873G>T	3.37:g.20181725G>T	ENSP00000263754:p.Glu625*		20156729	NM_003884	Q6NSK1	Nonsense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	G	44	10.745359	0.99460	.	.	ENSG00000114166	ENST00000263754	.	.	.	5.23	5.23	0.72850	.	0.043650	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-25.4726	19.1563	0.93511	0.0:0.0:1.0:0.0	.	.	.	.	X	625	.	ENSP00000263754:E625X	E	+	1	0	KAT2B	20156729	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.813000	0.99286	2.595000	0.87683	0.655000	0.94253	GAA		0.378	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
SGOL1	151648	broad.mit.edu	37	3	20202652	20202652	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:20202652G>A	ENST00000263753.4	-	9	1770	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	SGOL1_ENST00000452020.1_Missense_Mutation_p.S275L|SGOL1_ENST00000425061.1_Missense_Mutation_p.S292L|SGOL1_ENST00000383774.1_Missense_Mutation_p.S198L|SGOL1_ENST00000443724.1_Missense_Mutation_p.S198L|SGOL1_ENST00000419233.2_Missense_Mutation_p.S292L|SGOL1_ENST00000421451.1_Missense_Mutation_p.S544L|SGOL1_ENST00000306698.2_Missense_Mutation_p.S275L	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	544					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)	p.S544L(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						tgggaatctcgaaacaaattc	0.393																																					p.S275L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824T	3						.						92.0	97.0	95.0					3																	20202652		2203	4300	6503	20177656	SO:0001583	missense	151648	exon8			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1631C>T	3.37:g.20202652G>A	ENSP00000263753:p.Ser544Leu		20177656	NM_001199256	Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	-	1.730	-0.494374	0.04322	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000452020	T;T;T;T;T;T	0.56103	0.69;1.36;0.48;0.69;0.48;1.36	1.57	-3.15	0.05233	.	.	.	.	.	T	0.19886	0.0478	N	0.08118	0	0.09310	N	1	B;B;B;P	0.44578	0.0;0.324;0.053;0.838	B;B;B;B	0.29267	0.0;0.032;0.003;0.1	T	0.16305	-1.0407	9	0.87932	D	0	.	2.6469	0.04986	0.4588:0.0:0.2369:0.3043	.	198;292;544;275	Q5FBB7-7;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;SGOL1_HUMAN;.	L	275;292;544;198;292;198;544;275	ENSP00000394625:S292L;ENSP00000263753:S544L;ENSP00000373284:S198L;ENSP00000414960:S292L;ENSP00000413070:S198L;ENSP00000414129:S544L	ENSP00000263753:S544L	S	-	2	0	SGOL1	20177656	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-2.728000	0.00807	-1.076000	0.03125	-0.782000	0.03352	TCG		0.393	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484	
NR1D2	9975	broad.mit.edu	37	3	24006538	24006538	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:24006538C>T	ENST00000312521.4	+	6	1536	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	406	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S406L(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GAAGAATTTTCGATGAGCTTC	0.403																																					p.S406L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1217T	3						.						132.0	133.0	133.0					3																	24006538		2203	4300	6503	23981542	SO:0001583	missense	9975	exon6			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1217C>T	3.37:g.24006538C>T	ENSP00000310006:p.Ser406Leu		23981542	NM_005126	B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388444	0.95988	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.95412	-3.7	5.78	5.78	0.91487	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	M	0.91612	3.225	0.80722	D	1	D	0.61080	0.989	P	0.58660	0.843	D	0.98321	1.0528	10	0.87932	D	0	.	20.3681	0.98887	0.0:1.0:0.0:0.0	.	406	Q14995	NR1D2_HUMAN	L	406	ENSP00000310006:S406L	ENSP00000310006:S406L	S	+	2	0	NR1D2	23981542	1.000000	0.71417	0.971000	0.41717	0.935000	0.57460	7.722000	0.84778	2.890000	0.99128	0.655000	0.94253	TCG		0.403	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3		
THRB	7068	broad.mit.edu	37	3	24231751	24231751	+	Missense_Mutation	SNP	A	A	G	rs116576135		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:24231751A>G	ENST00000356447.4	-	4	381	c.97T>C	c.(97-99)Tct>Cct	p.S33P	THRB_ENST00000396671.2_Missense_Mutation_p.S33P|THRB_ENST00000416420.1_Missense_Mutation_p.S33P	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	33	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S33P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CAGGCTTCAGACATTCCTACT	0.498																																					p.S33P	Melanoma(21;896 1043 15021 37958)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T97C	3						.						193.0	176.0	182.0					3																	24231751		2203	4300	6503	24206755	SO:0001583	missense	7068	exon4				CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.97T>C	3.37:g.24231751A>G	ENSP00000348827:p.Ser33Pro		24206755	NM_000461	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.778761	0.49891	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414;ENST00000428492;ENST00000418247	D;D;D;D	0.96992	-3.32;-3.32;-3.32;-4.2	5.93	4.71	0.59529	.	.	.	.	.	D	0.90844	0.7124	N	0.19112	0.55	0.23331	N	0.99789	B	0.26975	0.165	B	0.23150	0.044	D	0.83477	0.0062	9	0.48119	T	0.1	.	7.0043	0.24828	0.604:0.1873:0.0:0.2087	.	33	P10828	THB_HUMAN	P	33;33;33;2;33;33;33;33;33;33;33	ENSP00000379904:S33P;ENSP00000348827:S33P;ENSP00000414444:S33P;ENSP00000414100:S2P	ENSP00000348827:S33P	S	-	1	0	THRB	24206755	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.875000	0.28079	2.263000	0.75096	0.533000	0.62120	TCT		0.498	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461	
RARB	5915	broad.mit.edu	37	3	25502735	25502735	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:25502735C>A	ENST00000404969.1	+	2	230	c.230C>A	c.(229-231)tCt>tAt	p.S77Y	RARB_ENST00000330688.4_Missense_Mutation_p.S70Y|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_5'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	77	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S70Y(1)|p.S77Y(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGCCCCCCATCTCCACTTCCT	0.502																																					p.S70Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C209A	3						.						103.0	107.0	106.0					3																	25502735		2203	4300	6503	25477739	SO:0001583	missense	5915	exon2			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.230C>A	3.37:g.25502735C>A	ENSP00000385865:p.Ser77Tyr		25477739	NM_000965	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.349737	0.95830	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.93763	-3.04;-3.28;-3.17	5.71	5.71	0.89125	.	0.191733	0.46758	D	0.000280	D	0.96052	0.8714	L	0.57536	1.79	0.58432	D	0.999999	D;D	0.76494	0.999;0.968	D;P	0.70227	0.968;0.862	D	0.96081	0.9054	10	0.87932	D	0	.	19.9109	0.97025	0.0:1.0:0.0:0.0	.	77;70	P10826;F1D8S6	RARB_HUMAN;.	Y	77;77;77;70	ENSP00000373282:S77Y;ENSP00000385865:S77Y;ENSP00000332296:S70Y	ENSP00000332296:S70Y	S	+	2	0	RARB	25477739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.723000	0.93209	0.644000	0.83932	TCT		0.502	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	
NGLY1	55768	broad.mit.edu	37	3	25778846	25778846	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:25778846G>A	ENST00000280700.5	-	6	1142	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	NGLY1_ENST00000428257.1_Missense_Mutation_p.R328C|NGLY1_ENST00000417874.2_Missense_Mutation_p.R286C|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.R328C	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	328					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.R328C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAAACATAGCGAGCTTCAAAC	0.468																																					p.R286C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C856T	3						.						88.0	79.0	82.0					3																	25778846		2203	4300	6503	25753850	SO:0001583	missense	55768	exon6			AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.982C>T	3.37:g.25778846G>A	ENSP00000280700:p.Arg328Cys		25753850	NM_001145294	B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977352	0.74360	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.28	5.28	0.74379	Transglutaminase-like (2);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	H	0.96430	3.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90493	0.4468	10	0.87932	D	0	-8.6378	14.0871	0.64964	0.0:0.0:0.8129:0.1871	.	286;328;328;328	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	C	328;328;328;325;286	ENSP00000387430:R328C;ENSP00000280700:R328C;ENSP00000379886:R328C;ENSP00000307980:R325C;ENSP00000389888:R286C	ENSP00000280700:R328C	R	-	1	0	NGLY1	25753850	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.669000	0.54561	2.607000	0.88179	0.655000	0.94253	CGC		0.468	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2		
OXSM	54995	broad.mit.edu	37	3	25833220	25833220	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:25833220G>A	ENST00000280701.3	+	2	808	c.709G>A	c.(709-711)Gat>Aat	p.D237N	OXSM_ENST00000420173.2_Intron|OXSM_ENST00000449808.1_Intron|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	237					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.D237N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGGAGGTACAGATTCTTGTAT	0.488																																					p.D237N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G709A	3						.						131.0	128.0	129.0					3																	25833220		2203	4300	6503	25808224	SO:0001583	missense	54995	exon2			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.709G>A	3.37:g.25833220G>A	ENSP00000280701:p.Asp237Asn		25808224	NM_017897		Missense_Mutation	SNP	ENST00000280701.3	37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	G	34	5.365241	0.95877	.	.	ENSG00000151093	ENST00000280701	.	.	.	6.16	6.16	0.99307	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.091585	0.64402	D	0.000001	D	0.82388	0.5026	M	0.85630	2.765	0.80722	D	1	P	0.50272	0.933	P	0.56612	0.802	T	0.81760	-0.0785	8	.	.	.	-33.1944	20.8598	0.99761	0.0:0.0:1.0:0.0	.	237	Q9NWU1	OXSM_HUMAN	N	237	.	.	D	+	1	0	OXSM	25808224	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.827000	0.99397	2.937000	0.99478	0.650000	0.86243	GAT		0.488	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897	
EOMES	8320	broad.mit.edu	37	3	27761750	27761750	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:27761750G>A	ENST00000295743.4	-	2	1151	c.948C>T	c.(946-948)ttC>ttT	p.F316F	EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.F316F|EOMES_ENST00000537516.1_Silent_p.F21F			O95936	EOMES_HUMAN	eomesodermin	316					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F316F(2)|p.F316L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCACCTCTACGAACACATTGT	0.512																																					p.F316F												.	.	3	Substitution - coding silent(2)|Substitution - Missense(1)	large_intestine(2)|lung(1)	c.C948T	3						.						126.0	132.0	130.0					3																	27761750		2203	4300	6503	27736754	SO:0001819	synonymous_variant	8320	exon2			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.948C>T	3.37:g.27761750G>A			27736754	NM_005442	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	ENST00000295743.4	37	CCDS2646.1																																																																																				0.512	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442	
OSBPL10	114884	broad.mit.edu	37	3	31871543	31871543	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:31871543C>T	ENST00000396556.2	-	4	840	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	240					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.E240K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TCTCTGACTTCGTGAAGCTGG	0.602																																					p.E240K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G718A	3						.						57.0	48.0	51.0					3																	31871543		2203	4300	6503	31846547	SO:0001583	missense	114884	exon4			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.718G>A	3.37:g.31871543C>T	ENSP00000379804:p.Glu240Lys		31846547	NM_017784	B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	CCDS2651.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036829	0.93630	.	.	ENSG00000144645	ENST00000396556;ENST00000428241	T;T	0.44881	0.91;0.91	5.81	4.93	0.64822	.	0.950904	0.08993	N	0.864142	T	0.57636	0.2067	L	0.61218	1.895	0.80722	D	1	D	0.57571	0.98	P	0.53518	0.728	T	0.49679	-0.8914	10	0.37606	T	0.19	-16.4671	16.8735	0.86045	0.0:0.8716:0.1284:0.0	.	240	Q9BXB5	OSB10_HUMAN	K	240;19	ENSP00000379804:E240K;ENSP00000399200:E19K	ENSP00000379804:E240K	E	-	1	0	OSBPL10	31846547	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.829000	0.75314	1.443000	0.47586	0.561000	0.74099	GAA		0.602	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2		
CNOT10	25904	broad.mit.edu	37	3	32778972	32778972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:32778972G>T	ENST00000328834.5	+	13	1901	c.1585G>T	c.(1585-1587)Gaa>Taa	p.E529*	CNOT10_ENST00000538368.1_Nonsense_Mutation_p.E301*|CNOT10_ENST00000454516.2_Nonsense_Mutation_p.E589*|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000331889.6_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	529					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E529*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ACAGGAATTAGAAAACTTAAA	0.363																																					p.E529X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1585T	3						.						61.0	59.0	60.0					3																	32778972		2203	4300	6503	32753976	SO:0001587	stop_gained	25904	exon13			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1585G>T	3.37:g.32778972G>T	ENSP00000330060:p.Glu529*		32753976	NM_015442	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Nonsense_Mutation	SNP	ENST00000328834.5	37	CCDS2655.1	.	.	.	.	.	.	.	.	.	.	G	38	6.654218	0.97739	.	.	ENSG00000182973	ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-24.4728	19.3169	0.94218	0.0:0.0:1.0:0.0	.	.	.	.	X	529;301;589;76	.	ENSP00000330060:E529X	E	+	1	0	CNOT10	32753976	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.928000	0.92853	2.557000	0.86248	0.655000	0.94253	GAA		0.363	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442	
GLB1	2720	broad.mit.edu	37	3	33058237	33058237	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:33058237T>C	ENST00000399402.3	-	14	1484	c.1353A>G	c.(1351-1353)ggA>ggG	p.G451G	GLB1_ENST00000307377.8_Silent_p.G350G|GLB1_ENST00000445488.2_Silent_p.G529G|GLB1_ENST00000307363.5_Silent_p.G481G|GLB1_ENST00000497796.1_5'UTR	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	481					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)	p.G481G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				AGTTCACACGTCCCATGTTCT	0.468																																					p.G350G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1050G	3						.						241.0	237.0	238.0					3																	33058237		1980	4155	6135	33033241	SO:0001819	synonymous_variant	2720	exon11			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1353A>G	3.37:g.33058237T>C			33033241	NM_001135602	B2R7H8|B7Z6B0|P16279	Silent	SNP	ENST00000399402.3	37	CCDS43062.1																																																																																				0.468	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	NM_000404	
FBXL2	25827	broad.mit.edu	37	3	33406139	33406139	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:33406139C>T	ENST00000484457.1	+	5	309	c.218C>T	c.(217-219)tCg>tTg	p.S73L	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.S73L|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.S73L|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2									p.S73L(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GAAAATATCTCGAAGCGATGC	0.438																																					p.S73L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C218T	3						.						201.0	187.0	192.0					3																	33406139		2203	4300	6503	33381143	SO:0001583	missense	25827	exon5			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.218C>T	3.37:g.33406139C>T	ENSP00000417601:p.Ser73Leu		33381143	NM_001171713		Missense_Mutation	SNP	ENST00000484457.1	37	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678011	0.96764	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000507198	T;T;T	0.40225	1.04;2.31;2.31	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	L	0.46741	1.465	0.80722	D	1	D	0.67145	0.996	P	0.55667	0.781	T	0.30966	-0.9960	10	0.07990	T	0.79	.	18.8066	0.92040	0.0:1.0:0.0:0.0	.	73	Q9UKC9	FBXL2_HUMAN	L	73	ENSP00000417601:S73L;ENSP00000441228:S73L;ENSP00000426163:S73L	ENSP00000408895:S73L	S	+	2	0	FBXL2	33381143	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	7.397000	0.79903	2.621000	0.88768	0.650000	0.86243	TCG		0.438	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157	
ARPP21	10777	broad.mit.edu	37	3	35763216	35763216	+	Missense_Mutation	SNP	G	G	A	rs535145550		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:35763216G>A	ENST00000187397.4	+	14	1571	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	ARPP21_ENST00000337271.5_Missense_Mutation_p.R318H|ARPP21_ENST00000417925.1_Missense_Mutation_p.R338H|ARPP21_ENST00000444190.1_Missense_Mutation_p.R318H|ARPP21_ENST00000458225.1_Missense_Mutation_p.R338H	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	372	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.R372H(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGTTCCAACCGCAATCTAAAG	0.567																																					p.R372H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1115A	3						.						52.0	44.0	47.0					3																	35763216		2203	4300	6503	35738220	SO:0001583	missense	10777	exon14			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1115G>A	3.37:g.35763216G>A	ENSP00000187397:p.Arg372His		35738220	NM_016300	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875087	0.91664	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.36699	1.24;1.44;1.44;1.67;1.24	5.75	5.75	0.90469	.	0.062472	0.64402	D	0.000002	T	0.63988	0.2558	M	0.78049	2.395	0.51233	D	0.999918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.97;0.933;0.994	T	0.63580	-0.6605	10	0.51188	T	0.08	-13.4234	19.9522	0.97203	0.0:0.0:1.0:0.0	.	338;372;318	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	H	338;318;318;372;338	ENSP00000414351:R338H;ENSP00000337792:R318H;ENSP00000405276:R318H;ENSP00000187397:R372H;ENSP00000412326:R338H	ENSP00000187397:R372H	R	+	2	0	ARPP21	35738220	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.651000	0.74372	2.725000	0.93324	0.655000	0.94253	CGC		0.567	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
DCLK3	85443	broad.mit.edu	37	3	36779461	36779461	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:36779461C>A	ENST00000416516.2	-	2	1180	c.690G>T	c.(688-690)gaG>gaT	p.E230D		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	230						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E230D(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTCTTGATCCTCTGGGCCTC	0.572																																					p.E230D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G690T	3						.						98.0	103.0	101.0					3																	36779461		2025	4200	6225	36754465	SO:0001583	missense	85443	exon2			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.690G>T	3.37:g.36779461C>A	ENSP00000394484:p.Glu230Asp		36754465	NM_033403		Missense_Mutation	SNP	ENST00000416516.2	37	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	C	8.069	0.769762	0.15983	.	.	ENSG00000163673	ENST00000416516	T	0.67865	-0.29	5.22	-2.98	0.05513	.	0.520075	0.14366	N	0.324116	T	0.42966	0.1226	N	0.17082	0.46	0.09310	N	1	B	0.32245	0.361	B	0.25140	0.058	T	0.17806	-1.0357	10	0.23302	T	0.38	.	13.3157	0.60405	0.0:0.4309:0.0:0.5691	.	230	Q9C098	DCLK3_HUMAN	D	230	ENSP00000394484:E230D	ENSP00000394484:E230D	E	-	3	2	DCLK3	36754465	0.000000	0.05858	0.000000	0.03702	0.486000	0.33341	-0.462000	0.06704	-0.455000	0.07054	0.655000	0.94253	GAG		0.572	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355	
TRANK1	9881	broad.mit.edu	37	3	36873919	36873919	+	Silent	SNP	C	C	T	rs560792375		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:36873919C>T	ENST00000429976.2	-	21	7270	c.7023G>A	c.(7021-7023)ggG>ggA	p.G2341G	TRANK1_ENST00000428977.2_Silent_p.G1791G|TRANK1_ENST00000301807.6_Silent_p.G1791G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2341							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.G2341G(1)|p.G1784G(1)|p.G1791G(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGCCAAATTTCCCTTCTATTC	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18523	0.0		0.0	False		,,,				2504	0.0				p.G2341G												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G7023A	3						.						117.0	120.0	119.0					3																	36873919		1948	4138	6086	36848923	SO:0001819	synonymous_variant	9881	exon21			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7023G>A	3.37:g.36873919C>T			36848923	NM_014831	Q8N8K0	Silent	SNP	ENST00000429976.2	37	CCDS46789.2																																																																																				0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36896970	36896970	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:36896970A>G	ENST00000429976.2	-	12	4358	c.4111T>C	c.(4111-4113)Tac>Cac	p.Y1371H	TRANK1_ENST00000428977.2_Missense_Mutation_p.Y821H|TRANK1_ENST00000301807.6_Missense_Mutation_p.Y821H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1371							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.Y821H(2)|p.Y1371H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GATATGTTGTACAGAACATCC	0.502																																					p.Y1371H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.T4111C	3						.						110.0	113.0	112.0					3																	36896970		2034	4168	6202	36871974	SO:0001583	missense	9881	exon12			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4111T>C	3.37:g.36896970A>G	ENSP00000416168:p.Tyr1371His		36871974	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	A	9.567	1.120039	0.20877	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.81659	-1.52;-1.52;-1.52	5.46	5.46	0.80206	.	0.246041	0.28946	N	0.013630	T	0.72011	0.3408	N	0.05230	-0.09	0.43777	D	0.9963	P	0.49253	0.921	P	0.52109	0.69	T	0.71705	-0.4512	10	0.19147	T	0.46	.	15.8445	0.78876	1.0:0.0:0.0:0.0	.	1371	O15050	TRNK1_HUMAN	H	821;1371;821	ENSP00000416826:Y821H;ENSP00000416168:Y1371H;ENSP00000301807:Y821H	ENSP00000301807:Y821H	Y	-	1	0	TRANK1	36871974	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	5.404000	0.66344	2.208000	0.71279	0.459000	0.35465	TAC		0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36897422	36897422	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:36897422C>A	ENST00000429976.2	-	12	3906	c.3659G>T	c.(3658-3660)aGa>aTa	p.R1220I	TRANK1_ENST00000428977.2_Missense_Mutation_p.R670I|TRANK1_ENST00000301807.6_Missense_Mutation_p.R670I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1220							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.R670I(2)|p.R1220I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATCTTCGTTTCTCAGAAAAAA	0.473																																					p.R1220I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G3659T	3						.						119.0	120.0	120.0					3																	36897422		1928	4143	6071	36872426	SO:0001583	missense	9881	exon12			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3659G>T	3.37:g.36897422C>A	ENSP00000416168:p.Arg1220Ile		36872426	NM_014831	Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794923	0.70452	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.82433	-1.61;-1.61;-1.61	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000011	D	0.90380	0.6989	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90860	0.4738	10	0.87932	D	0	.	19.473	0.94971	0.0:1.0:0.0:0.0	.	1220	O15050	TRNK1_HUMAN	I	670;1220;670	ENSP00000416826:R670I;ENSP00000416168:R1220I;ENSP00000301807:R670I	ENSP00000301807:R670I	R	-	2	0	TRANK1	36872426	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.025000	0.70864	2.688000	0.91661	0.561000	0.74099	AGA		0.473	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
TRANK1	9881	broad.mit.edu	37	3	36898939	36898939	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:36898939C>T	ENST00000429976.2	-	12	2389	c.2142G>A	c.(2140-2142)gaG>gaA	p.E714E	TRANK1_ENST00000428977.2_Silent_p.E164E|TRANK1_ENST00000301807.6_Silent_p.E164E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	714							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)	p.E164E(2)|p.E714E(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTCCAGAGGCTCAGAGCTCT	0.552																																					p.E714E												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G2142A	3						.						40.0	42.0	42.0					3																	36898939		1901	4124	6025	36873943	SO:0001819	synonymous_variant	9881	exon12			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2142G>A	3.37:g.36898939C>T			36873943	NM_014831	Q8N8K0	Silent	SNP	ENST00000429976.2	37	CCDS46789.2																																																																																				0.552	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831	
EPM2AIP1	9852	broad.mit.edu	37	3	37032991	37032991	+	Silent	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:37032991C>G	ENST00000322716.5	-	1	1804	c.1578G>C	c.(1576-1578)ggG>ggC	p.G526G	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	526					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.G526G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CATAAAACTGCCCCAAGTCTT	0.403																																					p.G526G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1578C	3						.						54.0	50.0	52.0					3																	37032991		1850	4088	5938	37007995	SO:0001819	synonymous_variant	9852	exon1			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1578G>C	3.37:g.37032991C>G			37007995	NM_014805	O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	CCDS46790.1																																																																																				0.403	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805	
EPM2AIP1	9852	broad.mit.edu	37	3	37033705	37033705	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:37033705G>A	ENST00000322716.5	-	1	1090	c.864C>T	c.(862-864)agC>agT	p.S288S	MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000539477.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	288					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)		p.S288S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CATCATAGGAGCTCAACAGTT	0.403																																					p.S288S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864T	3						.						81.0	78.0	79.0					3																	37033705		1885	4113	5998	37008709	SO:0001819	synonymous_variant	9852	exon1			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.864C>T	3.37:g.37033705G>A			37008709	NM_014805	O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	CCDS46790.1																																																																																				0.403	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1	NM_014805	
GOLGA4	2803	broad.mit.edu	37	3	37323662	37323662	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:37323662G>T	ENST00000361924.2	+	3	750	c.376G>T	c.(376-378)Gac>Tac	p.D126Y	GOLGA4_ENST00000356847.4_Missense_Mutation_p.D148Y|GOLGA4_ENST00000444882.1_Missense_Mutation_p.D126Y|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	126					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.D126Y(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGAGGCTGAAGACTTGGTAGG	0.448																																					p.D148Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442T	3						.						97.0	95.0	96.0					3																	37323662		2203	4300	6503	37298666	SO:0001583	missense	2803	exon4			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.376G>T	3.37:g.37323662G>T	ENSP00000354486:p.Asp126Tyr		37298666	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002244	0.74932	.	.	ENSG00000144674	ENST00000361924;ENST00000444882;ENST00000356847;ENST00000450863	T;T	0.33654	1.4;1.57	5.56	5.56	0.83823	.	0.000000	0.38272	N	0.001749	T	0.57330	0.2046	L	0.50333	1.59	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.76575	0.961;0.974;0.988;0.947;0.982	T	0.58053	-0.7704	10	0.87932	D	0	.	19.5451	0.95291	0.0:0.0:1.0:0.0	.	126;126;148;126;148	Q86W71;Q13439-4;F8W8Q7;Q13439;E7EVX2	.;.;.;GOGA4_HUMAN;.	Y	126;126;148;148	ENSP00000354486:D126Y;ENSP00000349305:D148Y	ENSP00000349305:D148Y	D	+	1	0	GOLGA4	37298666	1.000000	0.71417	0.865000	0.33974	0.417000	0.31264	9.320000	0.96346	2.629000	0.89072	0.655000	0.94253	GAC		0.448	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
GOLGA4	2803	broad.mit.edu	37	3	37368196	37368196	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:37368196G>A	ENST00000361924.2	+	14	5193	c.4819G>A	c.(4819-4821)Gaa>Aaa	p.E1607K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1629K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1607	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.E1607K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAAGAAGAAAGAATTAGAACA	0.348																																					p.E1629K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4885A	3						.						60.0	66.0	64.0					3																	37368196		2201	4299	6500	37343200	SO:0001583	missense	2803	exon15			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4819G>A	3.37:g.37368196G>A	ENSP00000354486:p.Glu1607Lys		37343200	NM_001172713	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908504	0.72868	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.36157	1.28;1.27;1.3	5.23	5.23	0.72850	.	0.000000	0.37348	N	0.002125	T	0.51719	0.1691	L	0.61036	1.89	0.37813	D	0.928101	P;B;B;D	0.67145	0.577;0.373;0.373;0.996	B;B;B;P	0.62813	0.179;0.117;0.117;0.907	T	0.51965	-0.8638	10	0.32370	T	0.25	.	12.5153	0.56028	0.0767:0.0:0.9232:0.0	.	1607;1607;1629;1607	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1607;1629;1478	ENSP00000354486:E1607K;ENSP00000349305:E1629K;ENSP00000405842:E1478K	ENSP00000349305:E1629K	E	+	1	0	GOLGA4	37343200	1.000000	0.71417	0.992000	0.48379	0.858000	0.48976	6.243000	0.72384	2.596000	0.87737	0.561000	0.74099	GAA		0.348	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
SLC22A14	9389	broad.mit.edu	37	3	38357162	38357162	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38357162T>C	ENST00000273173.4	+	8	1583	c.1492T>C	c.(1492-1494)Ttc>Ctc	p.F498L	SLC22A14_ENST00000448498.1_Missense_Mutation_p.F498L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	498					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.F498L(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TGTCACTGTGTTCTTCCTCTA	0.592																																					p.F498L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1492C	3						.						196.0	160.0	172.0					3																	38357162		2203	4300	6503	38332166	SO:0001583	missense	9389	exon8			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1492T>C	3.37:g.38357162T>C	ENSP00000273173:p.Phe498Leu		38332166	NM_004803	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	T	1.934	-0.445239	0.04604	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.74106	-0.81;-0.81	4.63	-4.94	0.03057	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.667570	0.15865	N	0.240807	T	0.46171	0.1379	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.33548	-0.9864	10	0.19590	T	0.45	.	6.8518	0.24018	0.0:0.2817:0.4826:0.2357	.	498	Q9Y267	S22AE_HUMAN	L	498;483;498	ENSP00000396283:F498L;ENSP00000273173:F498L	ENSP00000273173:F498L	F	+	1	0	SLC22A14	38332166	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	-0.381000	0.07417	-0.540000	0.06265	-0.250000	0.11733	TTC		0.592	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803	
XYLB	9942	broad.mit.edu	37	3	38404470	38404470	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38404470G>A	ENST00000207870.3	+	4	343	c.253G>A	c.(253-255)Gac>Aac	p.D85N	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	85			D -> E (in dbSNP:rs17118). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9763671, ECO:0000269|Ref.3}.		carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)	p.D85N(1)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TTCGGGCTTCGACTTCTCTCA	0.527																																					p.D85N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	3						.						122.0	122.0	122.0					3																	38404470		2203	4300	6503	38379474	SO:0001583	missense	9942	exon4			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.253G>A	3.37:g.38404470G>A	ENSP00000207870:p.Asp85Asn		38379474	NM_005108	B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	ENST00000207870.3	37	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449054	0.43531	.	.	ENSG00000093217	ENST00000207870	T	0.48522	0.81	4.93	1.94	0.25998	Carbohydrate kinase, FGGY, N-terminal (1);	0.700768	0.14941	N	0.289492	T	0.31231	0.0790	N	0.25890	0.77	0.80722	D	1	B	0.28439	0.212	B	0.34180	0.177	T	0.13845	-1.0494	10	0.33940	T	0.23	.	3.5283	0.07768	0.2914:0.1969:0.5117:0.0	.	85	O75191	XYLB_HUMAN	N	85	ENSP00000207870:D85N	ENSP00000207870:D85N	D	+	1	0	XYLB	38379474	0.973000	0.33851	0.921000	0.36526	0.896000	0.52359	1.466000	0.35310	1.207000	0.43291	0.455000	0.32223	GAC		0.527	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	
ACVR2B	93	broad.mit.edu	37	3	38519422	38519422	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38519422G>A	ENST00000352511.4	+	3	803	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	111					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CTTCTGCAACGAACGCTTCAC	0.577																																					p.E111K												.	.	0			c.G331A	3						.						124.0	122.0	123.0					3																	38519422		2203	4300	6503	38494426	SO:0001583	missense	93	exon3			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.331G>A	3.37:g.38519422G>A	ENSP00000340361:p.Glu111Lys		38494426	NM_001106	Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657299	0.47467	.	.	ENSG00000114739	ENST00000352511	D	0.97352	-4.35	4.77	3.83	0.44106	TGF-beta receptor/activin receptor, type I/II (1);	0.104582	0.64402	D	0.000004	D	0.92990	0.7769	L	0.42744	1.35	0.54753	D	0.999985	B	0.12013	0.005	B	0.13407	0.009	D	0.87657	0.2532	10	0.14656	T	0.56	.	8.1433	0.31097	0.0844:0.1602:0.7554:0.0	.	111	Q13705	AVR2B_HUMAN	K	111	ENSP00000340361:E111K	ENSP00000340361:E111K	E	+	1	0	ACVR2B	38494426	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.716000	0.68437	2.203000	0.70933	0.462000	0.41574	GAA		0.577	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106	
SCN5A	6331	broad.mit.edu	37	3	38592409	38592409	+	Silent	SNP	G	G	A	rs370114378		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38592409G>A	ENST00000333535.4	-	28	5603	c.5454C>T	c.(5452-5454)gcC>gcT	p.A1818A	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000449557.2_Silent_p.A1764A|SCN5A_ENST00000451551.2_Silent_p.A1764A|SCN5A_ENST00000413689.1_Silent_p.A1818A|SCN5A_ENST00000423572.2_Silent_p.A1817A|SCN5A_ENST00000414099.2_Silent_p.A1800A|SCN5A_ENST00000455624.2_Silent_p.A1785A|SCN5A_ENST00000443581.1_Silent_p.A1817A|SCN5A_ENST00000425664.1_Silent_p.A1800A|SCN5A_ENST00000450102.2_Silent_p.A1764A			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1818					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.A1818A(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	ACAGGGCATCGGCAAAGTCAG	0.527																																					p.A1800A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5400T	3						.	G	,,,,,	0,4324		0,0,2162	56.0	62.0	60.0		5451,5454,5400,5355,5292,5454	-2.1	0.7	3		60	2,8542		0,2,4270	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,2,6432	AA,AG,GG		0.0234,0.0,0.0155	,,,,,	1817/2016,1818/2017,1800/1999,1785/1984,1764/1963,1818/2017	38592409	2,12866	2162	4272	6434	38567413	SO:0001819	synonymous_variant	6331	exon27			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5454C>T	3.37:g.38592409G>A			38567413	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.527	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN5A	6331	broad.mit.edu	37	3	38592883	38592883	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38592883G>A	ENST00000333535.4	-	28	5129	c.4980C>T	c.(4978-4980)atC>atT	p.I1660I	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000449557.2_Silent_p.I1606I|SCN5A_ENST00000451551.2_Silent_p.I1606I|SCN5A_ENST00000413689.1_Silent_p.I1660I|SCN5A_ENST00000423572.2_Silent_p.I1659I|SCN5A_ENST00000414099.2_Silent_p.I1642I|SCN5A_ENST00000455624.2_Silent_p.I1627I|SCN5A_ENST00000443581.1_Silent_p.I1659I|SCN5A_ENST00000425664.1_Silent_p.I1642I|SCN5A_ENST00000450102.2_Silent_p.I1606I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1660			I -> V (in BRGDA1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane). {ECO:0000269|PubMed:17075016}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.I1660I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGCAGCCCGATGTTGAAGA	0.567																																					p.I1642I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4926T	3						.						156.0	152.0	153.0					3																	38592883		2203	4300	6503	38567887	SO:0001819	synonymous_variant	6331	exon27			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4980C>T	3.37:g.38592883G>A			38567887	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.567	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN5A	6331	broad.mit.edu	37	3	38595795	38595795	+	Silent	SNP	G	G	A	rs141789366	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38595795G>A	ENST00000333535.4	-	27	4937	c.4788C>T	c.(4786-4788)ttC>ttT	p.F1596F	SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000449557.2_Silent_p.F1542F|SCN5A_ENST00000451551.2_Silent_p.F1542F|SCN5A_ENST00000413689.1_Silent_p.F1596F|SCN5A_ENST00000423572.2_Silent_p.F1595F|SCN5A_ENST00000414099.2_Silent_p.F1578F|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000443581.1_Silent_p.F1595F|SCN5A_ENST00000425664.1_Silent_p.F1578F|SCN5A_ENST00000450102.2_Silent_p.F1542F			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1596					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.F1596F(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGACAACCACGAAGTCGAAGA	0.567													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18696	0.0		0.0	False		,,,				2504	0.0				p.F1578F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4734T	3						.	G	,,,,,	5,4161		0,5,2078	111.0	114.0	113.0		4785,4788,4734,,4626,4788	-0.7	1.0	3	dbSNP_134	113	0,8444		0,0,4222	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	,,,,,	0,5,6300	AA,AG,GG		0.0,0.12,0.0397	,,,,,	1595/2016,1596/2017,1578/1999,,1542/1963,1596/2017	38595795	5,12605	2083	4222	6305	38570799	SO:0001819	synonymous_variant	6331	exon26			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4788C>T	3.37:g.38595795G>A			38570799	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.567	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN5A	6331	broad.mit.edu	37	3	38628904	38628904	+	Missense_Mutation	SNP	C	C	T	rs199473160		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38628904C>T	ENST00000333535.4	-	15	2572	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	SCN5A_ENST00000449557.2_Missense_Mutation_p.R808H|SCN5A_ENST00000451551.2_Missense_Mutation_p.R808H|SCN5A_ENST00000413689.1_Missense_Mutation_p.R808H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R808H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R808H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R808H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R808H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R808H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R808H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	808					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R808H(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGGAAGGAGCGCAGCACCGA	0.587																																					p.R808H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2423A	3						.						74.0	78.0	77.0					3																	38628904		2139	4228	6367	38603908	SO:0001583	missense	6331	exon15			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2423G>A	3.37:g.38628904C>T	ENSP00000328968:p.Arg808His		38603908	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956084	0.92726	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	4.29	4.29	0.51040	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	H	0.99058	4.415	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.99;0.992;0.999;0.989	D;P;D;P;P;P;P	0.87578	0.998;0.708;0.997;0.621;0.616;0.895;0.481	D	0.97593	1.0118	10	0.87932	D	0	.	17.2584	0.87064	0.0:1.0:0.0:0.0	.	808;808;808;808;808;808;808	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	H	808	ENSP00000398962:R808H;ENSP00000398266:R808H;ENSP00000410257:R808H;ENSP00000388797:R808H;ENSP00000397915:R808H;ENSP00000416634:R808H;ENSP00000328968:R808H;ENSP00000399524:R808H;ENSP00000403355:R808H;ENSP00000413996:R808H	ENSP00000328968:R808H	R	-	2	0	SCN5A	38603908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.400000	0.81607	0.561000	0.74099	CGC		0.587	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN5A	6331	broad.mit.edu	37	3	38639278	38639278	+	Missense_Mutation	SNP	G	G	A	rs137854611		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38639278G>A	ENST00000333535.4	-	14	2353	c.2204C>T	c.(2203-2205)gCg>gTg	p.A735V	SCN5A_ENST00000449557.2_Missense_Mutation_p.A735V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A735V|SCN5A_ENST00000413689.1_Missense_Mutation_p.A735V|SCN5A_ENST00000423572.2_Missense_Mutation_p.A735V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A735V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A735V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A735V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A735V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A735V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	735			A -> E (in BRGDA1). {ECO:0000269|PubMed:11901046}.|A -> V (in BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential). {ECO:0000269|PubMed:22795782}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.A735V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGCTCCAGCGCCATGAAGAG	0.532																																					p.A735V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2204T	3	GRCh37	CM020302|CM024639	SCN5A	M	rs137854611	.						133.0	132.0	132.0					3																	38639278		2105	4231	6336	38614282	SO:0001583	missense	6331	exon14			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2204C>T	3.37:g.38639278G>A	ENSP00000328968:p.Ala735Val		38614282	NM_001099405	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151721	0.78001	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	4.68	4.68	0.58851	.	0.053822	0.85682	D	0.000000	D	0.98899	0.9627	H	0.94847	3.59	0.58432	D	0.999999	D;B;D;D;B;P;P	0.89917	1.0;0.396;1.0;1.0;0.049;0.942;0.917	D;B;D;D;B;B;B	0.85130	0.991;0.025;0.997;0.991;0.006;0.337;0.161	D	0.99616	1.0982	10	0.87932	D	0	.	17.7531	0.88440	0.0:0.0:1.0:0.0	.	735;735;735;735;735;735;735	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	735	ENSP00000398962:A735V;ENSP00000398266:A735V;ENSP00000410257:A735V;ENSP00000388797:A735V;ENSP00000397915:A735V;ENSP00000416634:A735V;ENSP00000328968:A735V;ENSP00000399524:A735V;ENSP00000403355:A735V;ENSP00000413996:A735V	ENSP00000328968:A735V	A	-	2	0	SCN5A	38614282	1.000000	0.71417	0.964000	0.40570	0.983000	0.72400	9.545000	0.98095	2.440000	0.82611	0.491000	0.48974	GCG		0.532	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SCN10A	6336	broad.mit.edu	37	3	38812845	38812845	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38812845C>A	ENST00000449082.2	-	4	523	c.524G>T	c.(523-525)aGa>aTa	p.R175I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	175					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R175I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACAAAATCCTCTTGCCAGTAT	0.438																																					p.R175I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G524T	3						.						139.0	135.0	136.0					3																	38812845		2203	4300	6503	38787849	SO:0001583	missense	6336	exon4			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.524G>T	3.37:g.38812845C>A	ENSP00000390600:p.Arg175Ile		38787849	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215523	0.95104	.	.	ENSG00000185313	ENST00000449082	D	0.97404	-4.37	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.91196	3.185	0.80722	D	1	P	0.49253	0.921	P	0.57846	0.828	D	0.99593	1.0976	10	0.87932	D	0	.	18.4138	0.90561	0.0:1.0:0.0:0.0	.	175	Q9Y5Y9	SCNAA_HUMAN	I	175	ENSP00000390600:R175I	ENSP00000390600:R175I	R	-	2	0	SCN10A	38787849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.590000	0.67530	2.665000	0.90641	0.655000	0.94253	AGA		0.438	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN11A	11280	broad.mit.edu	37	3	38892115	38892115	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:38892115T>G	ENST00000302328.3	-	25	4382	c.4184A>C	c.(4183-4185)aAa>aCa	p.K1395T	SCN11A_ENST00000444237.2_Missense_Mutation_p.K1395T|SCN11A_ENST00000456224.3_Missense_Mutation_p.K1357T|SCN11A_ENST00000450244.1_Missense_Mutation_p.K1395T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1395					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K1395T(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGATGGATTTCATGGCTTT	0.393																																					p.K1395T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4184C	3						.						190.0	171.0	177.0					3																	38892115		2203	4300	6503	38867119	SO:0001583	missense	11280	exon25			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4184A>C	3.37:g.38892115T>G	ENSP00000307599:p.Lys1395Thr		38867119	NM_014139	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	0.355	-0.942686	0.02322	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	5.13	-1.86	0.07760	.	0.699813	0.14697	N	0.303767	D	0.88855	0.6550	N	0.15975	0.35	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.78765	-0.2076	10	0.05525	T	0.97	.	7.435	0.27150	0.0:0.1946:0.22:0.5854	.	1395	Q9UI33	SCNBA_HUMAN	T	1395;1395;1357;1395	ENSP00000307599:K1395T;ENSP00000400945:K1395T;ENSP00000416757:K1357T;ENSP00000408028:K1395T	ENSP00000307599:K1395T	K	-	2	0	SCN11A	38867119	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.347000	0.07750	-0.518000	0.06452	0.533000	0.62120	AAA		0.393	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
GORASP1	64689	broad.mit.edu	37	3	39142260	39142260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:39142260C>T	ENST00000319283.3	-	5	1365	c.544G>A	c.(544-546)Gca>Aca	p.A182T	GORASP1_ENST00000476334.1_5'Flank|GORASP1_ENST00000422110.2_Intron|GORASP1_ENST00000479927.1_Missense_Mutation_p.A87T	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	182					Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)		p.A182T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCCAGGCTGCGTTGGGAGTT	0.587											OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A182T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G544A	3						.						103.0	104.0	104.0					3																	39142260		2203	4300	6503	39117264	SO:0001583	missense	64689	exon5			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.544G>A	3.37:g.39142260C>T	ENSP00000313869:p.Ala182Thr	883	39117264	NM_031899	B3KWC8|Q3SYG7|Q8N272|Q96H42	Missense_Mutation	SNP	ENST00000319283.3	37	CCDS2681.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619547	0.87460	.	.	ENSG00000114745	ENST00000319283;ENST00000479927	T;T	0.44083	0.94;0.93	5.26	4.38	0.52667	PDZ/DHR/GLGF (1);	0.270103	0.41938	D	0.000785	T	0.23014	0.0556	N	0.04880	-0.145	0.40202	D	0.97752	B;B	0.31680	0.3;0.335	B;B	0.34824	0.19;0.112	T	0.11567	-1.0582	10	0.44086	T	0.13	-8.4738	9.6389	0.39826	0.0:0.8444:0.0:0.1556	.	87;182	B4E1H8;Q9BQQ3	.;GORS1_HUMAN	T	182;87	ENSP00000313869:A182T;ENSP00000419123:A87T	ENSP00000313869:A182T	A	-	1	0	GORASP1	39117264	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.321000	0.51999	2.460000	0.83146	0.655000	0.94253	GCA		0.587	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254060.1		
TTC21A	199223	broad.mit.edu	37	3	39178409	39178409	+	Missense_Mutation	SNP	G	G	A	rs199645072		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:39178409G>A	ENST00000431162.2	+	24	3270	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Missense_Mutation_p.E1047K|TTC21A_ENST00000440121.1_Missense_Mutation_p.E998K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1046								p.E1047K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCAGCCCAACGAAGCCTTAAA	0.532																																					p.E998K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2992A	3						.	G	LYS/GLU,LYS/GLU	1,4129		0,1,2064	102.0	106.0	105.0		2992,3136	3.0	1.0	3		105	0,8418		0,0,4209	yes	missense,missense	TTC21A	NM_001105513.2,NM_145755.2	56,56	0,1,6273	AA,AG,GG		0.0,0.0242,0.0080	benign,benign	998/1273,1046/1321	39178409	1,12547	2065	4209	6274	39153413	SO:0001583	missense	199223	exon23			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3136G>A	3.37:g.39178409G>A	ENSP00000398211:p.Glu1046Lys		39153413	NM_001105513	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845261	0.51164	2.42E-4	0.0	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.42513	0.97;0.97;0.97	4.85	3.01	0.34805	Tetratricopeptide-like helical (1);	0.449783	0.20520	N	0.090701	T	0.41259	0.1151	M	0.82823	2.61	0.36212	D	0.851445	P;P;P	0.49185	0.92;0.901;0.84	B;B;B	0.40134	0.173;0.32;0.17	T	0.49495	-0.8934	10	0.28530	T	0.3	-3.3576	7.1798	0.25765	0.0917:0.3284:0.5798:0.0	.	998;1047;1046	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	K	1047;1029;1046;998	ENSP00000301819:E1047K;ENSP00000398211:E1046K;ENSP00000410882:E998K	ENSP00000301819:E1047K	E	+	1	0	TTC21A	39153413	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	2.799000	0.47892	0.434000	0.26340	0.462000	0.41574	GAA		0.532	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
XIRP1	165904	broad.mit.edu	37	3	39227652	39227652	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:39227652T>G	ENST00000340369.3	-	2	3513	c.3285A>C	c.(3283-3285)aaA>aaC	p.K1095N	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.K1095N	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1095					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.K1095N(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TAGCCCCAGCTTTCCGAAGAC	0.597																																					p.K1095N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3285C	3						.						62.0	61.0	61.0					3																	39227652		2203	4300	6503	39202656	SO:0001583	missense	165904	exon2			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3285A>C	3.37:g.39227652T>G	ENSP00000343140:p.Lys1095Asn		39202656	NM_194293	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	T	0.452	-0.893121	0.02491	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05382	3.45;3.92	3.94	1.45	0.22620	.	1.810880	0.03677	U	0.244884	T	0.04815	0.0130	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.26195	0.024;0.144	B;B	0.19946	0.017;0.027	T	0.39014	-0.9634	10	0.31617	T	0.26	.	2.6889	0.05115	0.1921:0.2095:0.0:0.5984	.	1095;1095	Q702N8;Q702N8-2	XIRP1_HUMAN;.	N	1095	ENSP00000379550:K1095N;ENSP00000343140:K1095N	ENSP00000343140:K1095N	K	-	3	2	XIRP1	39202656	0.534000	0.26362	0.010000	0.14722	0.018000	0.09664	1.093000	0.30939	0.310000	0.22990	0.528000	0.53228	AAA		0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
CX3CR1	1524	broad.mit.edu	37	3	39307669	39307669	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:39307669A>G	ENST00000541347.1	-	2	571	c.332T>C	c.(331-333)aTc>aCc	p.I111T	CX3CR1_ENST00000358309.3_Missense_Mutation_p.I143T|CX3CR1_ENST00000399220.2_Missense_Mutation_p.I111T|CX3CR1_ENST00000542107.1_Missense_Mutation_p.I111T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	111					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AAAAAAGCCGATGAAGAAGAA	0.488																																					p.I143T												.	.	0			c.T428C	3						.						141.0	137.0	139.0					3																	39307669		1972	4150	6122	39282673	SO:0001583	missense	1524	exon2			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.332T>C	3.37:g.39307669A>G	ENSP00000439140:p.Ile111Thr		39282673	NM_001171174	A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.558907	0.65538	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107;ENST00000435290	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.140451	0.51477	D	0.000098	T	0.64560	0.2609	L	0.55743	1.74	0.43673	D	0.9961	P	0.38420	0.63	B	0.38428	0.273	T	0.63580	-0.6605	10	0.30854	T	0.27	.	10.1218	0.42625	0.9215:0.0:0.0785:0.0	.	111	P49238	CX3C1_HUMAN	T	111;119;143;111;111;111	ENSP00000382166:I111T;ENSP00000351059:I143T;ENSP00000439140:I111T;ENSP00000444928:I111T;ENSP00000394960:I111T	ENSP00000351059:I143T	I	-	2	0	CX3CR1	39282673	0.032000	0.19561	0.981000	0.43875	0.975000	0.68041	2.685000	0.46959	2.206000	0.71126	0.533000	0.62120	ATC		0.488	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337	
CCR8	1237	broad.mit.edu	37	3	39374186	39374186	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:39374186T>C	ENST00000326306.4	+	2	502	c.364T>C	c.(364-366)Ttt>Ctt	p.F122L	CCR8_ENST00000545843.1_Missense_Mutation_p.F39L|CCR8_ENST00000414803.1_Missense_Mutation_p.V64A	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	122					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)	p.F122L(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAGCAGCATGTTTTTCATCAC	0.507																																					p.F122L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T364C	3						.						222.0	203.0	209.0					3																	39374186		2203	4300	6503	39349190	SO:0001583	missense	1237	exon2			D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.364T>C	3.37:g.39374186T>C	ENSP00000326432:p.Phe122Leu		39349190	NM_005201	B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	CCDS2684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.93|10.93	1.488624|1.488624	0.26686|0.26686	.|.	.|.	ENSG00000179934|ENSG00000179934	ENST00000326306;ENST00000545843|ENST00000414803	T;T|T	0.37058|0.15139	1.22;1.22|2.45	4.67|4.67	3.47|3.47	0.39725|0.39725	GPCR, rhodopsin-like superfamily (1);|.	0.059421|.	0.64402|.	N|.	0.000002|.	T|T	0.17534|0.17534	0.0421|0.0421	N|N	0.25380|0.25380	0.74|0.74	0.54753|0.54753	D|D	0.999989|0.999989	B;B|.	0.19817|.	0.039;0.039|.	B;B|.	0.29785|.	0.107;0.107|.	T|T	0.03139|0.03139	-1.1068|-1.1068	10|7	0.62326|0.87932	D|D	0.03|0	.|.	9.488|9.488	0.38942|0.38942	0.0:0.0865:0.0:0.9135|0.0:0.0865:0.0:0.9135	.|.	122;39|.	P51685;Q3KNR3|.	CCR8_HUMAN;.|.	L|A	122;39|64	ENSP00000326432:F122L;ENSP00000440474:F39L|ENSP00000390104:V64A	ENSP00000326432:F122L|ENSP00000390104:V64A	F|V	+|+	1|2	0|0	CCR8|CCR8	39349190|39349190	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.830000|3.830000	0.55768|0.55768	0.775000|0.775000	0.33450|0.33450	0.460000|0.460000	0.39030|0.39030	TTT|GTT		0.507	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201	
ZNF619	285267	broad.mit.edu	37	3	40528599	40528599	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:40528599G>T	ENST00000314686.5	+	6	955	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	ZNF619_ENST00000456778.1_Nonsense_Mutation_p.E156*|ZNF619_ENST00000447116.2_Nonsense_Mutation_p.E240*|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.E200*|ZNF619_ENST00000521353.1_Nonsense_Mutation_p.E240*|ZNF619_ENST00000429348.2_Nonsense_Mutation_p.E200*|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.E191*			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E184*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTTTGCCAAAGAACAGGTGTT	0.438																																					p.E156X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G466T	3						.						85.0	80.0	82.0					3																	40528599		2203	4300	6503	40503603	SO:0001587	stop_gained	285267	exon4			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.550G>T	3.37:g.40528599G>T	ENSP00000322529:p.Glu184*		40503603	NM_001145083	B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_Mutation	SNP	ENST00000314686.5	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.099254	0.76983	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.55	0.655	0.17839	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.202	0.10471	0.3627:0.0:0.6372:0.0	.	.	.	.	X	184;240;200;156;191;240;200	.	ENSP00000322529:E184X	E	+	1	0	ZNF619	40503603	0.003000	0.15002	0.027000	0.17364	0.145000	0.21501	1.256000	0.32921	0.419000	0.25927	0.563000	0.77884	GAA		0.438	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656	
ZNF619	285267	broad.mit.edu	37	3	40529110	40529110	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:40529110A>C	ENST00000314686.5	+	6	1466	c.1061A>C	c.(1060-1062)aAa>aCa	p.K354T	ZNF619_ENST00000456778.1_Missense_Mutation_p.K326T|ZNF619_ENST00000447116.2_Missense_Mutation_p.K410T|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000432264.2_Missense_Mutation_p.K370T|ZNF619_ENST00000521353.1_Missense_Mutation_p.K410T|ZNF619_ENST00000429348.2_Missense_Mutation_p.K370T|ZNF619_ENST00000522736.1_Missense_Mutation_p.K361T			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K354T(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACTGGGGAGAAACCTTATGAA	0.448																																					p.K326T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A977C	3						.						65.0	68.0	67.0					3																	40529110		2203	4300	6503	40504114	SO:0001583	missense	285267	exon4			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1061A>C	3.37:g.40529110A>C	ENSP00000322529:p.Lys354Thr		40504114	NM_001145083	B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37		.	.	.	.	.	.	.	.	.	.	A	16.09	3.024016	0.54683	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	2.39	2.39	0.29439	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44850	0.1313	M	0.75777	2.31	0.26526	N	0.974345	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.991;0.991;0.998;0.991;0.992	T	0.22591	-1.0212	9	0.87932	D	0	.	4.1489	0.10228	0.8281:0.0:0.1719:0.0	.	326;370;410;312;361;354	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	T	354;410;370;326;361;410;370	ENSP00000322529:K354T;ENSP00000411132:K410T;ENSP00000398024:K370T;ENSP00000397232:K326T;ENSP00000428004:K361T;ENSP00000430705:K410T;ENSP00000388710:K370T	ENSP00000322529:K354T	K	+	2	0	ZNF619	40504114	0.083000	0.21467	0.983000	0.44433	0.996000	0.88848	0.519000	0.22862	1.114000	0.41781	0.460000	0.39030	AAA		0.448	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	NM_173656	
ZNF621	285268	broad.mit.edu	37	3	40574193	40574193	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:40574193G>T	ENST00000339296.5	+	5	1384	c.932G>T	c.(931-933)aGa>aTa	p.R311I	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.R311I|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.R200I	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R311I(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CAGCATCAGAGAGTTCACACT	0.438																																					p.R311I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G932T	3						.						80.0	76.0	77.0					3																	40574193		2203	4300	6503	40549197	SO:0001583	missense	285268	exon5			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.932G>T	3.37:g.40574193G>T	ENSP00000340841:p.Arg311Ile		40549197	NM_001098414	Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	13.74	2.326548	0.41197	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.24908	1.83;1.83;1.83	3.43	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42787	0.1218	M	0.69248	2.105	0.30836	N	0.736195	B;D	0.89917	0.384;1.0	B;D	0.81914	0.128;0.995	T	0.42085	-0.9472	9	0.72032	D	0.01	.	4.8752	0.13653	0.1187:0.2229:0.6585:0.0	.	200;311	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	I	311;311;200	ENSP00000386051:R311I;ENSP00000340841:R311I;ENSP00000413236:R200I	ENSP00000340841:R311I	R	+	2	0	ZNF621	40549197	0.002000	0.14202	0.891000	0.34965	0.986000	0.74619	1.314000	0.33597	0.995000	0.38917	0.650000	0.86243	AGA		0.438	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484	
ZNF621	285268	broad.mit.edu	37	3	40574262	40574262	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:40574262T>G	ENST00000339296.5	+	5	1453	c.1001T>G	c.(1000-1002)tTt>tGt	p.F334C	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.F334C|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.F223C	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F334C(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TATGGAAGTTTTGTTCAGCAT	0.502																																					p.F334C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1001G	3						.						117.0	96.0	103.0					3																	40574262		2203	4300	6503	40549266	SO:0001583	missense	285268	exon5			AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.1001T>G	3.37:g.40574262T>G	ENSP00000340841:p.Phe334Cys		40549266	NM_001098414	Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	t	12.09	1.833384	0.32421	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.07908	3.15;3.15;3.15	3.7	2.54	0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.240273	0.21732	N	0.069943	T	0.08537	0.0212	N	0.19112	0.55	0.80722	D	1	D;P	0.59767	0.986;0.723	P;B	0.51487	0.671;0.321	T	0.19976	-1.0289	10	0.87932	D	0	.	7.4795	0.27395	0.0:0.1074:0.0:0.8926	.	223;334	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	C	334;334;223	ENSP00000386051:F334C;ENSP00000340841:F334C;ENSP00000413236:F223C	ENSP00000340841:F334C	F	+	2	0	ZNF621	40549266	0.012000	0.17670	0.923000	0.36655	0.990000	0.78478	1.912000	0.39946	0.786000	0.33708	0.519000	0.50382	TTT		0.502	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484	
CTNNB1	1499	broad.mit.edu	37	3	41266078	41266078	+	Nonsense_Mutation	SNP	G	G	A	rs121913416|rs121913417		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:41266078G>A	ENST00000349496.5	+	3	355	c.75G>A	c.(73-75)tgG>tgA	p.W25*	CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.W25*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.W18*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.W25*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.W25*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	25			Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.M5_N141>D(2)|p.S23_S33del(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D6_S29del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.H24_L31del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.W25*(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.A5_I35del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TTAGTCACTGGCAGCAACAGT	0.458		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.W25X	Colon(6;3 56 14213 18255)		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,stomach,NS,Substitution - Missense,+1 	.	130	Deletion - In frame(105)|Complex - deletion inframe(15)|Unknown(7)|Deletion - Frameshift(2)|Substitution - Nonsense(1)	liver(100)|large_intestine(21)|stomach(2)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	c.G75A	3						.						91.0	76.0	81.0					3																	41266078		2203	4300	6503	41241082	SO:0001587	stop_gained	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.75G>A	3.37:g.41266078G>A	ENSP00000344456:p.Trp25*		41241082	NM_001098210	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Nonsense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	37	6.359387	0.97502	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0296	19.9596	0.97236	0.0:0.0:1.0:0.0	.	.	.	.	X	18;25;25;25;25;18;25;25;25	.	ENSP00000344456:W25X	W	+	3	0	CTNNB1	41241082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	TGG		0.458	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
ULK4	54986	broad.mit.edu	37	3	41723119	41723119	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:41723119C>T	ENST00000301831.4	-	29	3320	c.2858G>A	c.(2857-2859)cGg>cAg	p.R953Q		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	953					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R105Q(1)|p.R953Q(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGAGAGCAACCGCAAGCTAAA	0.433																																					p.R953Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2858A	3						.						104.0	103.0	103.0					3																	41723119		1984	4157	6141	41698123	SO:0001583	missense	54986	exon29			AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2858G>A	3.37:g.41723119C>T	ENSP00000301831:p.Arg953Gln		41698123	NM_017886	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	c	24.0	4.480753	0.84747	.	.	ENSG00000168038	ENST00000301831	T	0.66099	-0.19	5.75	5.75	0.90469	Armadillo-type fold (1);	0.088204	0.42172	U	0.000746	T	0.64972	0.2647	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	P	0.48488	0.579	T	0.67960	-0.5535	10	0.59425	D	0.04	.	15.0746	0.72066	0.0:0.9304:0.0:0.0696	.	953	Q96C45	ULK4_HUMAN	Q	953	ENSP00000301831:R953Q	ENSP00000301831:R953Q	R	-	2	0	ULK4	41698123	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.802000	0.55553	2.716000	0.92895	0.655000	0.94253	CGG		0.433	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989	
CCDC13	152206	broad.mit.edu	37	3	42798677	42798677	+	Missense_Mutation	SNP	C	C	T	rs144943082		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:42798677C>T	ENST00000310232.6	-	3	334	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	84								p.R84Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GAGCTCATTTCGAAGGTGTTC	0.488																																					p.R84Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	3						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	167.0	172.0		251	3.2	0.8	3	dbSNP_134	172	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CCDC13	NM_144719.3	43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	84/716	42798677	3,13003	2203	4300	6503	42773681	SO:0001583	missense	152206	exon3			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.251G>A	3.37:g.42798677C>T	ENSP00000309836:p.Arg84Gln		42773681	NM_144719		Missense_Mutation	SNP	ENST00000310232.6	37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513576	0.27123	2.27E-4	2.33E-4	ENSG00000244607	ENST00000310232	T	0.21734	1.99	5.37	3.24	0.37175	.	0.287999	0.34110	N	0.004257	T	0.08447	0.0210	N	0.17082	0.46	0.80722	D	1	B;B;B	0.27971	0.196;0.068;0.093	B;B;B	0.15052	0.011;0.012;0.011	T	0.14811	-1.0459	10	0.02654	T	1	.	7.0187	0.24902	0.0:0.6598:0.0:0.3402	.	84;84;84	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	Q	84	ENSP00000309836:R84Q	ENSP00000309836:R84Q	R	-	2	0	CCDC13	42773681	0.872000	0.30054	0.794000	0.32065	0.875000	0.50365	1.437000	0.34991	1.271000	0.44313	-0.229000	0.12294	CGA		0.488	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719	
CYP8B1	1582	broad.mit.edu	37	3	42917232	42917232	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:42917232C>T	ENST00000316161.4	-	1	401	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	CYP8B1_ENST00000437102.1_Missense_Mutation_p.R26Q|RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	26					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.R26Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCTGCGTTGTCGGAGCATCCC	0.582																																					p.R26Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G77A	3						.						41.0	41.0	41.0					3																	42917232		2203	4300	6503	42892236	SO:0001583	missense	1582	exon1			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.77G>A	3.37:g.42917232C>T	ENSP00000318867:p.Arg26Gln		42892236	NM_004391	B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179049	0.57692	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.75260	-0.44;-0.92	4.89	4.89	0.63831	.	0.068899	0.64402	N	0.000015	T	0.74261	0.3693	N	0.08118	0	0.44188	D	0.997003	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.80553	-0.1331	10	0.66056	D	0.02	-15.8843	16.977	0.86316	0.0:1.0:0.0:0.0	.	26;26	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	Q	26	ENSP00000404499:R26Q;ENSP00000318867:R26Q	ENSP00000318867:R26Q	R	-	2	0	CYP8B1	42892236	1.000000	0.71417	0.164000	0.22755	0.138000	0.21146	5.791000	0.69045	2.553000	0.86117	0.561000	0.74099	CGA		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391	
POMGNT2	84892	broad.mit.edu	37	3	43122149	43122149	+	Missense_Mutation	SNP	C	C	T	rs577129212		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:43122149C>T	ENST00000344697.2	-	2	1120	c.775G>A	c.(775-777)Gtc>Atc	p.V259I	POMGNT2_ENST00000441964.1_Missense_Mutation_p.V259I	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	259					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.V259I(1)									TTGCCTGAGACGAGGATGTTG	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21750	0.0		0.0	False		,,,				2504	0.0				p.V259I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	3						.						86.0	86.0	86.0					3																	43122149		2203	4300	6503	43097153	SO:0001583	missense	84892	exon2			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.775G>A	3.37:g.43122149C>T	ENSP00000344125:p.Val259Ile		43097153	NM_032806	B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849578	0.32699	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.79454	-1.27;-1.27	5.62	5.62	0.85841	.	0.059238	0.64402	D	0.000002	T	0.71558	0.3354	L	0.38838	1.175	0.58432	D	0.999998	B	0.28850	0.225	B	0.27380	0.079	T	0.68273	-0.5452	10	0.40728	T	0.16	-12.2888	18.6495	0.91425	0.0:1.0:0.0:0.0	.	259	Q8NAT1	AGO61_HUMAN	I	259	ENSP00000408992:V259I;ENSP00000344125:V259I	ENSP00000344125:V259I	V	-	1	0	C3orf39	43097153	0.999000	0.42202	0.221000	0.23827	0.142000	0.21351	4.068000	0.57534	2.633000	0.89246	0.655000	0.94253	GTC		0.557	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806	
POMGNT2	84892	broad.mit.edu	37	3	43122318	43122318	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:43122318G>T	ENST00000344697.2	-	2	951	c.606C>A	c.(604-606)caC>caA	p.H202Q	POMGNT2_ENST00000441964.1_Missense_Mutation_p.H202Q	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	202					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.H202Q(1)									AGAGGTCGAAGTGTGCACCCT	0.642																																					p.H202Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C606A	3						.						46.0	47.0	46.0					3																	43122318		2203	4300	6503	43097322	SO:0001583	missense	84892	exon2			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.606C>A	3.37:g.43122318G>T	ENSP00000344125:p.His202Gln		43097322	NM_032806	B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886990	0.52014	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.76968	-1.06;-1.06	5.88	5.88	0.94601	.	0.048009	0.85682	D	0.000000	T	0.82033	0.4949	L	0.53249	1.67	0.80722	D	1	D	0.59767	0.986	P	0.59288	0.855	T	0.83064	-0.0146	10	0.87932	D	0	-29.1573	10.6804	0.45811	0.1448:0.0:0.8552:0.0	.	202	Q8NAT1	AGO61_HUMAN	Q	202	ENSP00000408992:H202Q;ENSP00000344125:H202Q	ENSP00000344125:H202Q	H	-	3	2	C3orf39	43097322	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.430000	0.52807	2.782000	0.95742	0.655000	0.94253	CAC		0.642	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806	
ABHD5	51099	broad.mit.edu	37	3	43743914	43743914	+	Missense_Mutation	SNP	G	G	A	rs148743497	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:43743914G>A	ENST00000458276.2	+	3	464	c.341G>A	c.(340-342)cGa>cAa	p.R114Q		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	114					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)	p.R114Q(1)|p.R114L(1)		kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GGTTTTGGACGAAGTAGTAGA	0.463																																					p.R114Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)	c.G341A	3						.						235.0	229.0	231.0					3																	43743914		2203	4300	6503	43718918	SO:0001583	missense	51099	exon3			AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"""Abhydrolase domain containing"""	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.341G>A	3.37:g.43743914G>A	ENSP00000390849:p.Arg114Gln		43718918	NM_016006	B2R9K0|Q9Y369	Missense_Mutation	SNP	ENST00000458276.2	37	CCDS2711.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305365	0.81247	.	.	ENSG00000011198	ENST00000456453;ENST00000458276	T;D	0.85171	-1.17;-1.95	5.84	4.04	0.47022	Alpha/beta hydrolase fold-1 (1);	0.130408	0.53938	D	0.000060	D	0.87748	0.6255	L	0.52126	1.63	0.53688	D	0.99997	D	0.60160	0.987	P	0.60012	0.867	D	0.87339	0.2330	10	0.45353	T	0.12	-10.259	12.7733	0.57434	0.1344:0.0:0.8656:0.0	.	114	Q8WTS1	ABHD5_HUMAN	Q	73;114	ENSP00000391582:R73Q;ENSP00000390849:R114Q	ENSP00000391582:R73Q	R	+	2	0	ABHD5	43718918	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.027000	0.64109	1.480000	0.48289	0.557000	0.71058	CGA		0.463	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256644.2	NM_016006	
ZNF445	353274	broad.mit.edu	37	3	44488743	44488743	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:44488743C>T	ENST00000396077.2	-	8	2767	c.2420G>A	c.(2419-2421)cGa>cAa	p.R807Q	ZNF445_ENST00000425708.2_Missense_Mutation_p.R807Q	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	807					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R807Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CCTCTGATGTCGGTAGAGATT	0.443																																					p.R807Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2420A	3						.						72.0	71.0	71.0					3																	44488743		2203	4300	6503	44463747	SO:0001583	missense	353274	exon8			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2420G>A	3.37:g.44488743C>T	ENSP00000379387:p.Arg807Gln		44463747	NM_181489	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	c	16.84	3.235076	0.58886	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.29655	1.56;1.56	3.61	3.61	0.41365	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.399171	0.18624	N	0.135786	T	0.22003	0.0530	L	0.28400	0.85	0.24132	N	0.995763	P;P	0.51933	0.949;0.949	P;P	0.44561	0.453;0.453	T	0.06499	-1.0823	10	0.13108	T	0.6	.	10.9073	0.47088	0.1885:0.8115:0.0:0.0	.	795;807	B7ZKX2;P59923	.;ZN445_HUMAN	Q	807	ENSP00000413073:R807Q;ENSP00000379387:R807Q	ENSP00000379387:R807Q	R	-	2	0	ZNF445	44463747	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.322000	0.02695	2.323000	0.78572	0.457000	0.33378	CGA		0.443	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
ZKSCAN7	55888	broad.mit.edu	37	3	44612650	44612650	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:44612650G>T	ENST00000273320.3	+	6	2477	c.2048G>T	c.(2047-2049)aGa>aTa	p.R683I	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R683I|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	683					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R683I(3)									GTACATCAGAGAACCCATACT	0.428																																					p.R683I												.	.	3	Substitution - Missense(3)	large_intestine(2)|breast(1)	c.G2048T	3						.						113.0	118.0	116.0					3																	44612650		2203	4300	6503	44587654	SO:0001583	missense	55888	exon6			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2048G>T	3.37:g.44612650G>T	ENSP00000273320:p.Arg683Ile		44587654	NM_018651	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.938188	0.73557	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.02446	4.29;4.29	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002826	T	0.09113	0.0225	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.18147	-1.0346	10	0.72032	D	0.01	-11.2884	15.5027	0.75713	0.0:0.0:1.0:0.0	.	683	Q9P0L1	ZN167_HUMAN	I	683;683;121	ENSP00000395524:R683I;ENSP00000273320:R683I	ENSP00000273320:R683I	R	+	2	0	ZNF167	44587654	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.403000	0.20982	2.179000	0.69175	0.655000	0.94253	AGA		0.428	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651	
ZNF502	91392	broad.mit.edu	37	3	44763890	44763890	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:44763890C>A	ENST00000296091.4	+	4	1837	c.1581C>A	c.(1579-1581)ttC>ttA	p.F527L	ZNF502_ENST00000449836.1_Missense_Mutation_p.F527L|ZNF502_ENST00000436624.2_Missense_Mutation_p.F527L	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F527L(1)		NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GTGGAAAGTTCTTCAGACATA	0.423																																					p.F527L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1581A	3						.						99.0	95.0	96.0					3																	44763890		2203	4300	6503	44738894	SO:0001583	missense	91392	exon4			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1581C>A	3.37:g.44763890C>A	ENSP00000296091:p.Phe527Leu		44738894	NM_033210		Missense_Mutation	SNP	ENST00000296091.4	37	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197493	0.38806	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	T;T;T	0.06933	3.24;3.24;3.24	4.19	3.3	0.37823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04724	0.0128	N	0.10809	0.05	0.26614	N	0.972789	B	0.30634	0.288	B	0.26416	0.069	T	0.22243	-1.0222	9	0.87932	D	0	-6.8044	8.1331	0.31039	0.0:0.8283:0.0:0.1717	.	527	Q8TBZ5	ZN502_HUMAN	L	527	ENSP00000397390:F527L;ENSP00000296091:F527L;ENSP00000406469:F527L	ENSP00000296091:F527L	F	+	3	2	ZNF502	44738894	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-1.484000	0.02316	2.343000	0.79666	0.655000	0.94253	TTC		0.423	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210	
ZDHHC3	51304	broad.mit.edu	37	3	45000749	45000749	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:45000749G>A	ENST00000424952.2	-	2	448	c.180C>T	c.(178-180)ttC>ttT	p.F60F	ZDHHC3_ENST00000296127.3_Silent_p.F60F|ZDHHC3_ENST00000342790.4_Silent_p.F60F	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	60					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F60F(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		AGAGGACCACGAACTCCGCAT	0.552																																					p.F60F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C180T	3						.						134.0	123.0	127.0					3																	45000749		2203	4300	6503	44975753	SO:0001819	synonymous_variant	51304	exon2			AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.180C>T	3.37:g.45000749G>A			44975753	NM_001135179	Q53A17|Q96BL0	Silent	SNP	ENST00000424952.2	37	CCDS46811.1																																																																																				0.552	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1	NM_016598	
FYCO1	79443	broad.mit.edu	37	3	45972743	45972743	+	Silent	SNP	G	G	A	rs373785569		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:45972743G>A	ENST00000296137.2	-	16	4276	c.4071C>T	c.(4069-4071)atC>atT	p.I1357I	FYCO1_ENST00000438446.1_Silent_p.I28I|FYCO1_ENST00000535325.1_Silent_p.I1377I	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1357	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)	p.I1357I(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CGAAGCTGGCGATCTCATCCA	0.547																																					p.I1357I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4071T	3						.						73.0	75.0	74.0					3																	45972743		2203	4300	6503	45947747	SO:0001819	synonymous_variant	79443	exon16			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.4071C>T	3.37:g.45972743G>A			45947747	NM_024513	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	G	4.170	0.030069	0.08101	.	.	ENSG00000163820	ENST00000433878	.	.	.	5.23	0.342	0.15996	.	.	.	.	.	T	0.59059	0.2166	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52624	-0.8551	4	.	.	.	-12.483	11.4386	0.50083	0.4614:0.0:0.5386:0.0	.	.	.	.	L	146	.	.	S	-	2	0	FYCO1	45947747	0.000000	0.05858	0.898000	0.35279	0.644000	0.38419	-0.365000	0.07573	-0.226000	0.09899	-1.094000	0.02160	TCG		0.547	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513	
CCR1	1230	broad.mit.edu	37	3	46245020	46245020	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:46245020G>T	ENST00000296140.3	-	2	910	c.785C>A	c.(784-786)tCt>tAt	p.S262Y	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	262					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.S262Y(1)		autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TTGGAAAACAGAAATAAGTAT	0.443																																					p.S262Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C785A	3						.						40.0	41.0	41.0					3																	46245020		2203	4300	6503	46220024	SO:0001583	missense	1230	exon2				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.785C>A	3.37:g.46245020G>T	ENSP00000296140:p.Ser262Tyr		46220024	NM_001295	Q86VA9	Missense_Mutation	SNP	ENST00000296140.3	37	CCDS2737.1	.	.	.	.	.	.	.	.	.	.	G	4.849	0.157783	0.09236	.	.	ENSG00000163823	ENST00000296140	T	0.72942	-0.7	5.31	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.868155	0.10166	N	0.707722	T	0.68933	0.3055	M	0.73598	2.24	0.09310	N	1	B	0.18741	0.03	B	0.34452	0.183	T	0.63769	-0.6562	10	0.52906	T	0.07	.	0.7252	0.00948	0.2418:0.14:0.3767:0.2416	.	262	P32246	CCR1_HUMAN	Y	262	ENSP00000296140:S262Y	ENSP00000296140:S262Y	S	-	2	0	CCR1	46220024	0.000000	0.05858	0.475000	0.27278	0.044000	0.14063	0.179000	0.16840	0.735000	0.32537	0.643000	0.83706	TCT		0.443	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257325.2	NM_001295	
SETD2	29072	broad.mit.edu	37	3	47158132	47158132	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:47158132G>A	ENST00000409792.3	-	4	4609	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1523	AWS. {ECO:0000255|PROSITE- ProRule:PRU00562}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R1020C(1)|p.R1523C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGAGAAGACGATTAAGACAA	0.338			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.R1523C			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4567T	3						.						131.0	131.0	131.0					3																	47158132		2203	4300	6503	47133136	SO:0001583	missense	29072	exon4			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4567C>T	3.37:g.47158132G>A	ENSP00000386759:p.Arg1523Cys		47133136	NM_014159	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534412	0.85812	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.82255	-1.59	5.93	5.93	0.95920	AWS (2);	0.000000	0.56097	D	0.000021	D	0.94791	0.8318	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95708	0.8755	10	0.87932	D	0	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	1523;1523	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1523	ENSP00000386759:R1523C	ENSP00000386759:R1523C	R	-	1	0	SETD2	47133136	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.558000	0.73942	2.814000	0.96858	0.591000	0.81541	CGT		0.338	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
SCAP	22937	broad.mit.edu	37	3	47467508	47467508	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:47467508C>T	ENST00000265565.5	-	7	1301	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	SCAP_ENST00000441517.2_Missense_Mutation_p.A42T|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	297	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TAGATGTAGGCAAACAAGATG	0.567																																					p.A297T	Pancreas(149;978 1908 29304 37806 46700)											.	.	0			c.G889A	3						.						176.0	142.0	154.0					3																	47467508		2203	4300	6503	47442512	SO:0001583	missense	22937	exon7			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.889G>A	3.37:g.47467508C>T	ENSP00000265565:p.Ala297Thr		47442512	NM_012235	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	34	5.395864	0.96009	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517	D;D	0.92149	-2.98;-2.98	5.02	5.02	0.67125	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.91981	0.7460	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.993;0.962	P;P	0.59221	0.854;0.69	D	0.92596	0.6087	10	0.51188	T	0.08	-28.9313	18.5236	0.90963	0.0:1.0:0.0:0.0	.	42;297	F8W921;Q12770	.;SCAP_HUMAN	T	297;297;42	ENSP00000265565:A297T;ENSP00000416847:A42T	ENSP00000265565:A297T	A	-	1	0	SCAP	47442512	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.459000	0.80802	2.607000	0.88179	0.650000	0.86243	GCC		0.567	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
CDC25A	993	broad.mit.edu	37	3	48219374	48219374	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:48219374G>A	ENST00000302506.3	-	7	1062	c.654C>T	c.(652-654)ttC>ttT	p.F218F	CDC25A_ENST00000351231.3_Silent_p.F178F|RNU7-128P_ENST00000517247.1_RNA	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	218					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.F218F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAAGGTCCACGAAGCCATCAT	0.448																																					p.F218F												CDC25A,kidney,NS,Substitution - Missense,-2 	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C654T	3						.						181.0	175.0	177.0					3																	48219374		2203	4300	6503	48194378	SO:0001819	synonymous_variant	993	exon7			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.654C>T	3.37:g.48219374G>A			48194378	NM_001789	Q8IZH5|Q96IL3|Q9H2F2	Silent	SNP	ENST00000302506.3	37	CCDS2760.1																																																																																				0.448	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789	
ZNF589	51385	broad.mit.edu	37	3	48309682	48309682	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:48309682C>A	ENST00000354698.3	+	4	573	c.501C>A	c.(499-501)ttC>ttA	p.F167L	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	167					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F167L(1)		large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAGTGGGTTTCTCTAGCCTGT	0.488																																					p.F167L	Colon(9;319 328 25374 27611 50948)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C501A	3						.						59.0	62.0	61.0					3																	48309682		1850	4095	5945	48284686	SO:0001583	missense	51385	exon4			AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.501C>A	3.37:g.48309682C>A	ENSP00000346729:p.Phe167Leu		48284686	NM_016089	Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	ENST00000354698.3	37	CCDS43085.1	.	.	.	.	.	.	.	.	.	.	C	8.240	0.806651	0.16467	.	.	ENSG00000164048	ENST00000354698;ENST00000296437	T	0.05717	3.4	1.32	0.416	0.16416	.	.	.	.	.	T	0.03178	0.0093	N	0.24115	0.695	0.09310	N	1	B;B	0.26975	0.165;0.103	B;B	0.23275	0.045;0.02	T	0.45948	-0.9226	9	0.08179	T	0.78	.	3.5324	0.07781	0.0:0.7369:0.0:0.2631	.	164;167	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	L	167;164	ENSP00000346729:F167L	ENSP00000296437:F164L	F	+	3	2	ZNF589	48284686	0.000000	0.05858	0.010000	0.14722	0.112000	0.19704	0.113000	0.15499	0.137000	0.18759	0.467000	0.42956	TTC		0.488	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089	
CCDC51	79714	broad.mit.edu	37	3	48474451	48474451	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:48474451C>A	ENST00000395694.2	-	4	688	c.603G>T	c.(601-603)aaG>aaT	p.K201N	CCDC51_ENST00000412398.2_Missense_Mutation_p.K92N|PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000442740.1_Missense_Mutation_p.K92N|CCDC51_ENST00000447018.1_Missense_Mutation_p.K92N|CCDC51_ENST00000395696.1_Missense_Mutation_p.K201N|PLXNB1_ENST00000296440.6_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	201						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.K201N(1)		endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGACCAGTTCTTGGTCCTCT	0.567																																					p.K201N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G603T	3						.						74.0	77.0	76.0					3																	48474451		1996	4178	6174	48449455	SO:0001583	missense	79714	exon4			AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.603G>T	3.37:g.48474451C>A	ENSP00000379047:p.Lys201Asn		48449455	NM_024661	Q9HA01	Missense_Mutation	SNP	ENST00000395694.2	37	CCDS2766.2	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875386	0.72180	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.58	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.56514	0.1990	M	0.82323	2.585	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.60510	-0.7249	10	0.87932	D	0	-23.0961	11.4574	0.50189	0.0:0.8542:0.0:0.1458	.	201	Q96ER9	CCD51_HUMAN	N	92;201;92;201;92	ENSP00000412300:K92N;ENSP00000379047:K201N;ENSP00000401194:K92N;ENSP00000379049:K201N;ENSP00000392898:K92N	ENSP00000379047:K201N	K	-	3	2	CCDC51	48449455	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.570000	0.60872	0.725000	0.32318	-0.150000	0.13652	AAG		0.567	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2	NM_024661	
COL7A1	1294	broad.mit.edu	37	3	48615947	48615947	+	Splice_Site	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:48615947C>A	ENST00000328333.8	-	63	5533	c.5426G>T	c.(5425-5427)gGg>gTg	p.G1809V	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Splice_Site_p.G1809V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1809	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTGGAAGCCCCTGGAAAAA	0.552																																					p.G1809V												.	.	0			c.G5426T	3						.						35.0	42.0	40.0					3																	48615947		2199	4299	6498	48590951	SO:0001630	splice_region_variant	1294	exon63			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5425-1G>T	3.37:g.48615947C>A			48590951	NM_000094	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086710	0.55861	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99637	-6.29;-6.29	5.84	5.84	0.93424	.	0.000000	0.45867	D	0.000330	D	0.99725	0.9893	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97675	1.0169	10	0.59425	D	0.04	.	15.1474	0.72667	0.0:0.8582:0.1418:0.0	.	1809	Q02388	CO7A1_HUMAN	V	1809	ENSP00000332371:G1809V;ENSP00000412569:G1809V	ENSP00000332371:G1809V	G	-	2	0	COL7A1	48590951	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.968000	0.70413	2.769000	0.95229	0.563000	0.77884	GGG		0.552	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation
SLC25A20	788	broad.mit.edu	37	3	48916844	48916844	+	Missense_Mutation	SNP	C	C	T	rs150419695		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:48916844C>T	ENST00000319017.4	-	4	562	c.364G>A	c.(364-366)Gta>Ata	p.V122I	SLC25A20_ENST00000430379.1_Intron|SLC25A20_ENST00000544097.1_Missense_Mutation_p.V72I	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	122					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.V122I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GTGGTGAATACGCCAGATAAC	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18597	0.0		0.0	False		,,,				2504	0.0				p.V122I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G364A	3						.	C	ILE/VAL	0,4406		0,0,2203	160.0	157.0	158.0		364	3.4	0.7	3	dbSNP_134	158	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SLC25A20	NM_000387.5	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign	122/302	48916844	3,13003	2203	4300	6503	48891848	SO:0001583	missense	788	exon4			Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.364G>A	3.37:g.48916844C>T	ENSP00000326305:p.Val122Ile		48891848	NM_000387	B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	CCDS2779.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.49	1.653899	0.29425	0.0	3.49E-4	ENSG00000178537	ENST00000319017;ENST00000544097	T;T	0.79033	-1.23;-1.23	5.15	3.37	0.38596	Mitochondrial carrier domain (2);	0.281582	0.34338	N	0.004057	T	0.55577	0.1929	N	0.16708	0.43	0.58432	D	0.999999	B	0.32396	0.369	B	0.27380	0.079	T	0.53208	-0.8471	10	0.05620	T	0.96	-20.5152	11.7193	0.51672	0.0:0.8541:0.0:0.1459	.	122	O43772	MCAT_HUMAN	I	122;72	ENSP00000326305:V122I;ENSP00000438731:V72I	ENSP00000326305:V122I	V	-	1	0	SLC25A20	48891848	1.000000	0.71417	0.735000	0.30896	0.967000	0.64934	4.449000	0.60034	0.687000	0.31509	-0.119000	0.15052	GTA		0.448	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387	
ARIH2	10425	broad.mit.edu	37	3	49011195	49011195	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:49011195G>T	ENST00000356401.4	+	9	1173	c.834G>T	c.(832-834)acG>acT	p.T278T	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Silent_p.T278T	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	278					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T278T(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		AATGGCTCACGAAGTGTGCAG	0.423																																					p.T278T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G834T	3						.						116.0	96.0	103.0					3																	49011195		2203	4300	6503	48986199	SO:0001819	synonymous_variant	10425	exon9			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.834G>T	3.37:g.49011195G>T			48986199	NM_006321	Q9HBZ6|Q9UEM9	Silent	SNP	ENST00000356401.4	37	CCDS2780.1																																																																																				0.423	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321	
QARS	5859	broad.mit.edu	37	3	49135487	49135487	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:49135487C>T	ENST00000306125.6	-	23	2552	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	QARS_ENST00000414533.1_Missense_Mutation_p.D728N|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	739					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)	p.D739N(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGGAACTTGTCGAAGGGTTTT	0.542																																					p.D739N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2215A	3						.						154.0	148.0	150.0					3																	49135487		2203	4300	6503	49110491	SO:0001583	missense	5859	exon23			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.2215G>A	3.37:g.49135487C>T	ENSP00000307567:p.Asp739Asn		49110491	NM_005051	B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446964	0.25987	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.24908	1.83;1.83	5.73	3.96	0.45880	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.045885	0.85682	N	0.000000	T	0.33933	0.0880	M	0.85041	2.73	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.17098	0.017;0.017	T	0.18053	-1.0349	10	0.62326	D	0.03	-23.5654	10.5226	0.44929	0.0:0.7898:0.0:0.2102	.	728;739	B4DWJ2;P47897	.;SYQ_HUMAN	N	739;728	ENSP00000307567:D739N;ENSP00000390015:D728N	ENSP00000307567:D739N	D	-	1	0	QARS	49110491	0.999000	0.42202	0.852000	0.33557	0.086000	0.17979	3.715000	0.54897	0.797000	0.33971	-0.812000	0.03155	GAC		0.542	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051	
USP19	10869	broad.mit.edu	37	3	49151503	49151503	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:49151503C>A	ENST00000398888.2	-	16	2436	c.2118G>T	c.(2116-2118)gaG>gaT	p.E706D	USP19_ENST00000398892.3_Missense_Mutation_p.E746D|USP19_ENST00000453664.1_Missense_Mutation_p.E797D|USP19_ENST00000417901.1_Missense_Mutation_p.E809D|USP19_ENST00000434032.2_Missense_Mutation_p.E807D|USP19_ENST00000398898.2_Missense_Mutation_p.E746D|USP19_ENST00000398896.1_Missense_Mutation_p.E514D	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	706	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.E794D(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTGGAGTTCTCCTTGCTGA	0.557																																					p.E797D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2391T	3						.						100.0	102.0	101.0					3																	49151503		2026	4178	6204	49126507	SO:0001583	missense	10869	exon17			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2118G>T	3.37:g.49151503C>A	ENSP00000381863:p.Glu706Asp		49126507	NM_001199162	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694688	0.68386	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.20332	2.12;2.09;2.19;2.17;2.08;2.19;2.17	6.17	3.45	0.39498	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.641197	0.15639	N	0.252003	T	0.28632	0.0709	N	0.21282	0.65	0.52501	D	0.999959	D;D;D;D;P	0.89917	1.0;1.0;0.999;0.997;0.807	D;D;D;D;P	0.85130	0.997;0.997;0.996;0.992;0.497	T	0.01574	-1.1321	10	0.21014	T	0.42	-27.8575	11.1489	0.48447	0.0:0.8041:0.0:0.1959	.	807;797;706;746;514	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	D	514;746;809;797;746;706;807	ENSP00000381870:E514D;ENSP00000381872:E746D;ENSP00000395260:E809D;ENSP00000400090:E797D;ENSP00000381867:E746D;ENSP00000381863:E706D;ENSP00000401197:E807D	ENSP00000381863:E706D	E	-	3	2	USP19	49126507	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	1.841000	0.39240	0.954000	0.37851	-0.140000	0.14226	GAG		0.557	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	
BSN	8927	broad.mit.edu	37	3	49680356	49680356	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:49680356C>T	ENST00000296452.4	+	3	1403	c.1289C>T	c.(1288-1290)cCg>cTg	p.P430L	BSN-AS1_ENST00000442384.1_RNA	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	430					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.P430L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGAGCCCTGCCGAAAACTGGG	0.612																																					p.P430L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1289T	3						.						39.0	44.0	43.0					3																	49680356		2201	4300	6501	49655360	SO:0001583	missense	8927	exon3			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.1289C>T	3.37:g.49680356C>T	ENSP00000296452:p.Pro430Leu		49655360	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	2.686	-0.274208	0.05679	.	.	ENSG00000164061	ENST00000296452	T	0.17691	2.26	4.36	2.56	0.30785	.	1.029000	0.07730	N	0.945100	T	0.11153	0.0272	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37911	-0.9685	10	0.24483	T	0.36	.	7.3548	0.26713	0.0:0.7885:0.0:0.2115	.	430	Q9UPA5	BSN_HUMAN	L	430	ENSP00000296452:P430L	ENSP00000296452:P430L	P	+	2	0	BSN	49655360	0.168000	0.22989	0.008000	0.14137	0.640000	0.38277	1.634000	0.37123	0.543000	0.28864	0.557000	0.71058	CCG		0.612	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
BSN	8927	broad.mit.edu	37	3	49693638	49693638	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:49693638C>T	ENST00000296452.4	+	5	6763	c.6649C>T	c.(6649-6651)Cgg>Tgg	p.R2217W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2217					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCAGTCCTGCGGCCCATGGT	0.587																																					p.R2217W												.	.	0			c.C6649T	3						.						67.0	56.0	60.0					3																	49693638		2203	4300	6503	49668642	SO:0001583	missense	8927	exon5			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6649C>T	3.37:g.49693638C>T	ENSP00000296452:p.Arg2217Trp		49668642	NM_003458	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008119	0.35415	.	.	ENSG00000164061	ENST00000296452	T	0.22539	1.95	5.53	4.64	0.57946	.	0.060477	0.64402	D	0.000007	T	0.43277	0.1240	M	0.62723	1.935	0.51767	D	0.999937	D	0.89917	1.0	D	0.91635	0.999	T	0.38672	-0.9650	10	0.87932	D	0	-17.4207	13.3117	0.60384	0.2878:0.7122:0.0:0.0	.	2217	Q9UPA5	BSN_HUMAN	W	2217	ENSP00000296452:R2217W	ENSP00000296452:R2217W	R	+	1	2	BSN	49668642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.419000	0.34793	1.297000	0.44761	0.655000	0.94253	CGG		0.587	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
CAMKV	79012	broad.mit.edu	37	3	49898728	49898728	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:49898728C>A	ENST00000477224.1	-	6	925	c.447G>T	c.(445-447)gaG>gaT	p.E149D	CAMKV_ENST00000467248.1_Missense_Mutation_p.E74D|CAMKV_ENST00000488336.1_Missense_Mutation_p.E149D|CAMKV_ENST00000463537.1_Missense_Mutation_p.E149D|CAMKV_ENST00000466940.1_Missense_Mutation_p.E106D|CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000296471.7_Missense_Mutation_p.E149D|RN7SL217P_ENST00000584520.1_RNA			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.E149D(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAACCAGGTTCTCCAGCTGTG	0.537																																					p.E149D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G447T	3						.						85.0	79.0	81.0					3																	49898728		2203	4300	6503	49873732	SO:0001583	missense	79012	exon6			BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.447G>T	3.37:g.49898728C>A	ENSP00000419195:p.Glu149Asp		49873732	NM_024046	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	ENST00000477224.1	37	CCDS33762.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583981	0.46110	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940;ENST00000480398	T;T;T;T;T;T;T	0.53857	2.64;2.64;0.92;2.64;0.6;2.64;0.6	5.41	2.04	0.26737	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43110	D	0.000618	T	0.63486	0.2515	L	0.48935	1.535	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.999;0.987;0.997;0.999;1.0	D;D;D;D;D	0.85130	0.996;0.987;0.991;0.995;0.997	T	0.62821	-0.6773	10	0.87932	D	0	.	12.1447	0.54016	0.0:0.7493:0.0:0.2507	.	106;112;149;149;149	E7ETR1;B4DMF2;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;CAMKV_HUMAN	D	149;149;149;149;74;106;62	ENSP00000296471:E149D;ENSP00000418809:E149D;ENSP00000417614:E149D;ENSP00000419195:E149D;ENSP00000420053:E74D;ENSP00000420724:E106D;ENSP00000420000:E62D	ENSP00000296471:E149D	E	-	3	2	CAMKV	49873732	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	2.193000	0.42658	0.112000	0.17975	-0.797000	0.03246	GAG		0.537	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046	
CACNA2D2	9254	broad.mit.edu	37	3	50416968	50416968	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:50416968A>G	ENST00000479441.1	-	11	1046	c.1047T>C	c.(1045-1047)aaT>aaC	p.N349N	CACNA2D2_ENST00000424201.2_Silent_p.N349N|CACNA2D2_ENST00000435965.1_Silent_p.N349N|CACNA2D2_ENST00000266039.3_Silent_p.N349N|CACNA2D2_ENST00000360963.3_Silent_p.N280N|CACNA2D2_ENST00000429770.1_Silent_p.N349N|CACNA2D2_ENST00000395083.1_Silent_p.N349N|CACNA2D2_ENST00000423994.2_Silent_p.N349N			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	349	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.N349N(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGTTGCGCACATTGGCCTGCA	0.587																																					p.N349N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1047C	3						.						102.0	84.0	90.0					3																	50416968		2203	4300	6503	50391972	SO:0001819	synonymous_variant	9254	exon11			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1047T>C	3.37:g.50416968A>G			50391972	NM_006030	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	CCDS54588.1																																																																																				0.587	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030	
DOCK3	1795	broad.mit.edu	37	3	51315127	51315127	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:51315127C>T	ENST00000266037.9	+	26	2788	c.2765C>T	c.(2764-2766)tCg>tTg	p.S922L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	922					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S922L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATGAGCAAATCGCACGCTCAG	0.542																																					p.I908I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2724T	3						.						50.0	51.0	51.0					3																	51315127		2059	4198	6257	51290167	SO:0001583	missense	1795	exon26			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2765C>T	3.37:g.51315127C>T	ENSP00000266037:p.Ser922Leu		51290167	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419862	0.62622	.	.	ENSG00000088538	ENST00000266037	T	0.05513	3.43	5.25	5.25	0.73442	.	0.236422	0.44902	D	0.000418	T	0.08670	0.0215	L	0.47716	1.5	0.58432	D	0.999995	B	0.18310	0.027	B	0.13407	0.009	T	0.28073	-1.0055	10	0.20046	T	0.44	.	19.2367	0.93864	0.0:1.0:0.0:0.0	.	922	Q8IZD9	DOCK3_HUMAN	L	922	ENSP00000266037:S922L	ENSP00000266037:S922L	S	+	2	0	DOCK3	51290167	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	2.014000	0.40951	2.637000	0.89404	0.585000	0.79938	TCG		0.542	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DOCK3	1795	broad.mit.edu	37	3	51370620	51370620	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:51370620C>T	ENST00000266037.9	+	35	3570	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1183					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1183C(2)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGAAACATGGCGCGAGACCGG	0.532																																					p.A1169V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3506T	3						.						119.0	119.0	119.0					3																	51370620		1937	4139	6076	51345660	SO:0001583	missense	1795	exon35			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3547C>T	3.37:g.51370620C>T	ENSP00000266037:p.Arg1183Cys		51345660	NM_004947	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305928	0.81247	.	.	ENSG00000088538	ENST00000266037	T	0.52754	0.65	6.06	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.62637	-0.6812	10	0.40728	T	0.16	.	15.5321	0.75970	0.212:0.788:0.0:0.0	.	1183	Q8IZD9	DOCK3_HUMAN	C	1183	ENSP00000266037:R1183C	ENSP00000266037:R1183C	R	+	1	0	DOCK3	51345660	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.040000	0.57333	2.879000	0.98667	0.650000	0.86243	CGC		0.532	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
DNAH1	25981	broad.mit.edu	37	3	52427469	52427469	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:52427469C>T	ENST00000420323.2	+	66	10855	c.10594C>T	c.(10594-10596)Cgc>Tgc	p.R3532C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3597					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3532C(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGTGTGTTCGCATCATGAT	0.567																																					p.R3532C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10594T	3						.						92.0	95.0	94.0					3																	52427469		2121	4238	6359	52402509	SO:0001583	missense	25981	exon66			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10594C>T	3.37:g.52427469C>T	ENSP00000401514:p.Arg3532Cys		52402509	NM_015512	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724468	0.68959	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.59224	0.28	4.46	4.46	0.54185	.	0.100975	0.38111	N	0.001803	T	0.79493	0.4455	M	0.93283	3.4	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;P	0.65010	0.931;0.897	D	0.84535	0.0635	10	0.66056	D	0.02	.	12.8533	0.57871	0.0:0.9188:0.0:0.0812	.	3532;3597	C9JXH6;Q9P2D7-2	.;.	C	3532;285	ENSP00000401514:R3532C	ENSP00000273600:R285C	R	+	1	0	DNAH1	52402509	0.601000	0.26907	1.000000	0.80357	0.975000	0.68041	1.198000	0.32223	2.324000	0.78689	0.563000	0.77884	CGC		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
PBRM1	55193	broad.mit.edu	37	3	52598110	52598110	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:52598110A>C	ENST00000296302.7	-	23	3832	c.3831T>G	c.(3829-3831)ttT>ttG	p.F1277L	PBRM1_ENST00000409057.1_Missense_Mutation_p.F1277L|PBRM1_ENST00000409114.3_Missense_Mutation_p.F1292L|PBRM1_ENST00000356770.4_Missense_Mutation_p.F1245L|PBRM1_ENST00000394830.3_Missense_Mutation_p.F1252L|PBRM1_ENST00000409767.1_Missense_Mutation_p.F1292L|PBRM1_ENST00000410007.1_Missense_Mutation_p.F1252L|PBRM1_ENST00000337303.4_Missense_Mutation_p.F1277L|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1277					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.F1245L(1)|p.F1277L(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGAGAGTGAAAACCTCTTCA	0.383			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.F1252L			Rec	yes		3	3p21	55193	polybromo 1		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3756G	3						.						113.0	111.0	112.0					3																	52598110		2203	4300	6503	52573150	SO:0001583	missense	55193	exon24			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3831T>G	3.37:g.52598110A>C	ENSP00000296302:p.Phe1277Leu		52573150	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	17.49	3.403366	0.62288	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.44482	0.95;1.2;0.99;0.94;0.96;1.22;1.4;0.92;0.97	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	M	0.67397	2.05	0.47511	D	0.999444	D;P;D;D;D;P;D;D	0.76494	0.99;0.954;0.99;0.974;0.999;0.9;0.99;0.974	D;D;D;D;D;B;D;D	0.77557	0.979;0.943;0.979;0.953;0.99;0.444;0.979;0.969	T	0.61997	-0.6947	10	0.62326	D	0.03	-11.3977	9.3619	0.38201	0.9201:0.0:0.0799:0.0	.	1252;1252;1277;1292;1292;1277;1245;1277	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	L	1245;1252;1277;1277;1277;1252;1292;1292;1276	ENSP00000349213:F1245L;ENSP00000378307:F1252L;ENSP00000296302:F1277L;ENSP00000338302:F1277L;ENSP00000386593:F1277L;ENSP00000386529:F1252L;ENSP00000386643:F1292L;ENSP00000386601:F1292L;ENSP00000387775:F1276L	ENSP00000296302:F1277L	F	-	3	2	PBRM1	52573150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.765000	0.55272	1.906000	0.55180	0.533000	0.62120	TTT		0.383	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
NEK4	6787	broad.mit.edu	37	3	52797488	52797488	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:52797488C>A	ENST00000233027.5	-	5	1021	c.819G>T	c.(817-819)aaG>aaT	p.K273N	NEK4_ENST00000383721.4_Missense_Mutation_p.K273N|NEK4_ENST00000535191.1_Missense_Mutation_p.K184N	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	273					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.K273N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TATCTTACATCTTTGTGGCCT	0.438																																					p.K184N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G552T	3						.						262.0	282.0	275.0					3																	52797488		2203	4300	6503	52772528	SO:0001583	missense	6787	exon4			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.819G>T	3.37:g.52797488C>A	ENSP00000233027:p.Lys273Asn		52772528	NM_001193533	A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	ENST00000233027.5	37	CCDS2863.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174452	0.78452	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.25250	1.83;1.81;1.83;1.81	5.56	4.68	0.58851	Protein kinase-like domain (1);	0.147343	0.48767	D	0.000165	T	0.48926	0.1527	M	0.74258	2.255	0.53688	D	0.999975	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.40308	-0.9570	10	0.39692	T	0.17	.	12.929	0.58276	0.0:0.8671:0.0:0.1329	.	184;273;273	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	N	273;184;273;184	ENSP00000233027:K273N;ENSP00000437703:K184N;ENSP00000373227:K273N;ENSP00000419666:K184N	ENSP00000233027:K273N	K	-	3	2	NEK4	52772528	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.071000	0.30666	2.616000	0.88540	0.655000	0.94253	AAG		0.438	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157	
ITIH3	3699	broad.mit.edu	37	3	52834998	52834998	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:52834998A>C	ENST00000449956.2	+	11	1225	c.1219A>C	c.(1219-1221)Aaa>Caa	p.K407Q	ITIH3_ENST00000465243.2_3'UTR|ITIH3_ENST00000416872.2_Missense_Mutation_p.K407Q	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	407	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.K407Q(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAGACCCGAAAAAATCCAAGA	0.542																																					p.K407Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1219C	3						.						130.0	132.0	131.0					3																	52834998		1940	4144	6084	52810038	SO:0001583	missense	3699	exon11				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1219A>C	3.37:g.52834998A>C	ENSP00000415769:p.Lys407Gln		52810038	NM_002217	Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	A	6.987	0.552243	0.13374	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.78003	-1.14;-1.14	4.82	4.82	0.62117	von Willebrand factor, type A (3);	0.517985	0.21265	N	0.077411	T	0.73345	0.3575	L	0.28054	0.825	0.21762	N	0.999552	P;B	0.50369	0.934;0.242	P;B	0.52856	0.711;0.101	T	0.63028	-0.6728	10	0.15066	T	0.55	-16.3233	13.496	0.61426	1.0:0.0:0.0:0.0	.	407;407	E7ET33;Q06033	.;ITIH3_HUMAN	Q	407;395;402;407;407	ENSP00000413922:K407Q;ENSP00000415769:K407Q	ENSP00000273291:K402Q	K	+	1	0	ITIH3	52810038	0.012000	0.17670	0.623000	0.29173	0.413000	0.31143	2.024000	0.41049	2.024000	0.59613	0.533000	0.62120	AAA		0.542	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217	
SFMBT1	51460	broad.mit.edu	37	3	52941178	52941178	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:52941178T>G	ENST00000394752.3	-	19	2620	c.2238A>C	c.(2236-2238)atA>atC	p.I746I	SFMBT1_ENST00000296295.6_Silent_p.I746I|SFMBT1_ENST00000394750.1_Silent_p.I746I|SFMBT1_ENST00000358080.2_Silent_p.I746I	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	746					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.I746I(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GCGATGTGGATATCTCACTTT	0.443																																					p.I746I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2238C	3						.						236.0	228.0	231.0					3																	52941178		2203	4300	6503	52916218	SO:0001819	synonymous_variant	51460	exon20			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2238A>C	3.37:g.52941178T>G			52916218	NM_001005158	Q402F7|Q96C73|Q9Y4Q9	Silent	SNP	ENST00000394752.3	37	CCDS2867.1																																																																																				0.443	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	
CACNA1D	776	broad.mit.edu	37	3	53842712	53842712	+	Missense_Mutation	SNP	G	G	A	rs371126105		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:53842712G>A	ENST00000350061.5	+	46	6297	c.5786G>A	c.(5785-5787)cGc>cAc	p.R1929H	CACNA1D_ENST00000544977.1_Missense_Mutation_p.R308H|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1949H|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1905H	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1929					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGTGCCTGCGCCGGCAGAGC	0.607																																					p.R1905H												.	.	0			c.G5714A	3						.	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	80.0	72.0	75.0		5846,5714,5786	5.7	1.0	3		75	0,8600		0,0,4300	no	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	1949/2182,1905/2138,1929/2162	53842712	1,13005	2203	4300	6503	53817752	SO:0001583	missense	776	exon44			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5786G>A	3.37:g.53842712G>A	ENSP00000288133:p.Arg1929His		53817752	NM_001128839	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680596	0.96774	2.27E-4	0.0	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000003	D	0.83594	0.5288	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;0.998;1.0	D;P;P;D	0.72338	0.924;0.869;0.856;0.977	D	0.84363	0.0539	10	0.72032	D	0.01	.	20.3117	0.98644	0.0:0.0:1.0:0.0	.	1905;1622;1929;1949	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	H	1929;1949;1905;1622;308	ENSP00000288133:R1929H;ENSP00000288139:R1949H;ENSP00000409174:R1905H;ENSP00000418014:R1622H;ENSP00000440956:R308H	ENSP00000288139:R1949H	R	+	2	0	CACNA1D	53817752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.884000	0.98904	0.655000	0.94253	CGC		0.607	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
CACNA2D3	55799	broad.mit.edu	37	3	54661843	54661843	+	Silent	SNP	C	C	T	rs375011891		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:54661843C>T	ENST00000474759.1	+	10	1041	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CACNA2D3_ENST00000490478.1_Silent_p.F237F|CACNA2D3_ENST00000415676.2_Silent_p.F331F|CACNA2D3_ENST00000288197.5_Silent_p.F331F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	331	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F331F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ACAAACTTTTCGCCAAAGGAA	0.413																																					p.F331F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C993T	3						.	C		0,3872		0,0,1936	103.0	95.0	98.0		993	2.9	1.0	3		98	2,8250		0,2,4124	no	coding-synonymous	CACNA2D3	NM_018398.2		0,2,6060	TT,TC,CC		0.0242,0.0,0.0165		331/1092	54661843	2,12122	1936	4126	6062	54636883	SO:0001819	synonymous_variant	55799	exon10			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.993C>T	3.37:g.54661843C>T			54636883	NM_018398	B2RPL6|Q9NY16|Q9NY18	Silent	SNP	ENST00000474759.1	37	CCDS54598.1																																																																																				0.413	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
LRTM1	57408	broad.mit.edu	37	3	54958812	54958812	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:54958812C>A	ENST00000273286.5	-	2	600	c.438G>T	c.(436-438)gaG>gaT	p.E146D	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.E70D|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	146						integral component of membrane (GO:0016021)		p.E146D(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TAGTTAGGTTCTCCCAAGTCT	0.488																																					p.E146D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G438T	3						.						97.0	93.0	95.0					3																	54958812		2203	4300	6503	54933852	SO:0001583	missense	57408	exon2			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.438G>T	3.37:g.54958812C>A	ENSP00000273286:p.Glu146Asp		54933852	NM_020678	Q8IUU2	Missense_Mutation	SNP	ENST00000273286.5	37	CCDS2876.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589290	0.28357	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.90069	4.29;-2.61	5.96	4.07	0.47477	.	0.453783	0.26919	N	0.021828	T	0.77685	0.4167	N	0.25789	0.76	0.26294	N	0.978071	B	0.30068	0.267	B	0.24541	0.054	T	0.63042	-0.6725	10	0.13853	T	0.58	.	8.3794	0.32461	0.1118:0.6985:0.1215:0.0682	.	146	Q9HBL6	LRTM1_HUMAN	D	146;70	ENSP00000273286:E146D;ENSP00000419772:E70D	ENSP00000273286:E146D	E	-	3	2	LRTM1	54933852	0.999000	0.42202	1.000000	0.80357	0.682000	0.39822	1.335000	0.33839	1.515000	0.48885	0.655000	0.94253	GAG		0.488	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351399.1	NM_020678	
ERC2	26059	broad.mit.edu	37	3	56468960	56468960	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:56468960G>A	ENST00000288221.6	-	2	331	c.76C>T	c.(76-78)Cgt>Tgt	p.R26C		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	26						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.R26C(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGCCCAAACGAGGAGACCTT	0.488																																					p.R26C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C76T	3						.						101.0	96.0	98.0					3																	56468960		1920	4140	6060	56444000	SO:0001583	missense	26059	exon2			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.76C>T	3.37:g.56468960G>A	ENSP00000288221:p.Arg26Cys		56444000	NM_015576	Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738925	0.69304	.	.	ENSG00000187672	ENST00000288221	T	0.57595	0.39	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	L	0.52573	1.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.71414	0.973	T	0.70590	-0.4830	10	0.87932	D	0	-14.2274	19.6632	0.95882	0.0:0.0:1.0:0.0	.	26	O15083	ERC2_HUMAN	C	26	ENSP00000288221:R26C	ENSP00000288221:R26C	R	-	1	0	ERC2	56444000	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.113000	0.64640	2.625000	0.88918	0.655000	0.94253	CGT		0.488	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
FAM208A	23272	broad.mit.edu	37	3	56667870	56667870	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:56667870G>C	ENST00000493960.2	-	18	2959	c.2949C>G	c.(2947-2949)gaC>gaG	p.D983E	FAM208A_ENST00000431842.2_Splice_Site_p.D546E|FAM208A_ENST00000355628.5_Splice_Site_p.D922E	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	983							poly(A) RNA binding (GO:0044822)	p.D922E(1)|p.D546E(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CCTTTAGTGTGTCTGTAAATG	0.537																																					p.D983E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2949G	3						.						40.0	36.0	38.0					3																	56667870		2203	4300	6503	56642910	SO:0001583	missense	23272	exon18			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2949C>G	3.37:g.56667870G>C	ENSP00000417509:p.Asp983Glu		56642910	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056066	0.55325	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.15372	2.43;2.7;2.75	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.33206	0.0855	L	0.32530	0.975	0.32260	N	0.570288	D;D;D;P	0.89917	0.98;1.0;1.0;0.671	P;D;D;B	0.85130	0.599;0.996;0.997;0.207	T	0.05971	-1.0853	10	0.30078	T	0.28	-14.6212	20.0205	0.97499	0.0:0.0:1.0:0.0	.	983;922;546;983	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	E	546;983;922	ENSP00000399410:D546E;ENSP00000417509:D983E;ENSP00000347845:D922E	ENSP00000347845:D922E	D	-	3	2	C3orf63	56642910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.894000	0.63206	2.801000	0.96364	0.650000	0.86243	GAC		0.537	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
FAM208A	23272	broad.mit.edu	37	3	56680718	56680718	+	Nonsense_Mutation	SNP	C	C	A	rs373875530		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:56680718C>A	ENST00000493960.2	-	14	2057	c.2047G>T	c.(2047-2049)Gaa>Taa	p.E683*	FAM208A_ENST00000431842.2_Nonsense_Mutation_p.E287*|FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E683*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	683							poly(A) RNA binding (GO:0044822)	p.E287*(1)|p.E683*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTAATCAATTCTTTGACTCTA	0.358																																					p.E683X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2047T	3						.	C	stop/GLU,stop/GLU	0,4406		0,0,2203	125.0	119.0	121.0		2047,859	5.3	1.0	3		121	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	FAM208A	NM_001112736.1,NM_015224.3	,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,	683/1513,287/1234	56680718	1,13005	2203	4300	6503	56655758	SO:0001587	stop_gained	23272	exon14			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2047G>T	3.37:g.56680718C>A	ENSP00000417509:p.Glu683*		56655758	NM_001112736	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	ENST00000493960.2	37	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	40	8.373000	0.98781	0.0	1.16E-4	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	.	.	.	5.26	5.26	0.73747	.	0.091263	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-17.331	19.0748	0.93156	0.0:1.0:0.0:0.0	.	.	.	.	X	287;683;683	.	ENSP00000347845:E683X	E	-	1	0	C3orf63	56655758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.164000	0.64954	2.733000	0.93635	0.655000	0.94253	GAA		0.358	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224	
APPL1	26060	broad.mit.edu	37	3	57283495	57283495	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:57283495A>G	ENST00000288266.3	+	11	1118	c.971A>G	c.(970-972)gAc>gGc	p.D324G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	324	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.D324G(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CTGGCCATGGACATAGACAAC	0.458																																					p.D324G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A971G	3						.						158.0	143.0	148.0					3																	57283495		2203	4300	6503	57258535	SO:0001583	missense	26060	exon11			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.971A>G	3.37:g.57283495A>G	ENSP00000288266:p.Asp324Gly		57258535	NM_012096	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067562	0.76301	.	.	ENSG00000157500	ENST00000288266	T	0.46451	0.87	6.06	6.06	0.98353	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.77616	2.38	0.80722	D	1	B;P	0.42357	0.376;0.777	B;P	0.45794	0.376;0.493	T	0.59542	-0.7435	10	0.62326	D	0.03	.	16.6245	0.84952	1.0:0.0:0.0:0.0	.	307;324	B4DQX8;Q9UKG1	.;DP13A_HUMAN	G	324	ENSP00000288266:D324G	ENSP00000288266:D324G	D	+	2	0	APPL1	57258535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.277000	0.95755	2.323000	0.78572	0.528000	0.53228	GAC		0.458	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096	
PDE12	201626	broad.mit.edu	37	3	57543397	57543397	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:57543397A>G	ENST00000311180.8	+	1	1394	c.1291A>G	c.(1291-1293)Aga>Gga	p.R431G	PDE12_ENST00000487257.1_Missense_Mutation_p.R431G	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	431					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)	p.R431G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GGTGCTCCAGAGATCTTCTGT	0.498																																					p.R431G	Colon(125;308 1634 19198 50622 50717)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1291G	3						.						54.0	56.0	55.0					3																	57543397		2203	4300	6503	57518437	SO:0001583	missense	201626	exon1			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1291A>G	3.37:g.57543397A>G	ENSP00000309142:p.Arg431Gly		57518437	NM_177966	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612105	0.66672	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	D;D	0.96427	-4.01;-4.01	5.56	5.56	0.83823	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.98068	0.9363	M	0.87456	2.885	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.947	D	0.98839	1.0754	10	0.87932	D	0	-13.4594	12.2642	0.54668	0.8584:0.1416:0.0:0.0	.	431;431	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	G	431	ENSP00000420626:R431G;ENSP00000309142:R431G	ENSP00000309142:R431G	R	+	1	2	PDE12	57518437	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.508000	0.60441	2.127000	0.65507	0.533000	0.62120	AGA		0.498	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966	
FLNB	2317	broad.mit.edu	37	3	58109043	58109044	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	AC	AC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:58109043_58109044AC>TT	ENST00000295956.4	+	21	3515_3516	c.3350_3351AC>TT	c.(3349-3351)cAC>cTT	p.H1117L	FLNB_ENST00000490882.1_Missense_Mutation_p.H1117L|FLNB_ENST00000429972.2_Missense_Mutation_p.H1117L|FLNB_ENST00000493452.1_Missense_Mutation_p.H948L|FLNB_ENST00000419752.2_Missense_Mutation_p.H948L|FLNB_ENST00000358537.3_Missense_Mutation_p.H1117L|FLNB_ENST00000357272.4_Missense_Mutation_p.H1117L|FLNB_ENST00000348383.5_Missense_Mutation_p.H1117L	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1117					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.H1117>?(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAGAAGTCCACATACCTGGGT	0.535																																					.												.	.	1	Complex(1)	large_intestine(1)	c.3350_3351TT	3						.																																			58084084	SO:0001583	missense	2317	exon21			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	Exception_encountered	3.37:g.58109043_58109044delinsTT	ENSP00000295956:p.His1117Leu		58084083	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	DNP	ENST00000295956.4	37	CCDS2885.1																																																																																				0.535	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
FLNB	2317	broad.mit.edu	37	3	58118655	58118655	+	Missense_Mutation	SNP	G	G	A	rs111498181		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:58118655G>A	ENST00000295956.4	+	26	4676	c.4511G>A	c.(4510-4512)cGc>cAc	p.R1504H	FLNB_ENST00000490882.1_Missense_Mutation_p.R1535H|FLNB_ENST00000429972.2_Missense_Mutation_p.R1504H|FLNB_ENST00000493452.1_Missense_Mutation_p.R1335H|FLNB_ENST00000419752.2_Missense_Mutation_p.R1335H|FLNB_ENST00000358537.3_Missense_Mutation_p.R1504H|FLNB_ENST00000357272.4_Missense_Mutation_p.R1504H|FLNB_ENST00000348383.5_Missense_Mutation_p.R1504H	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1504	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R1504H(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGATTCCTCGCAGGTAAGCt	0.507																																					p.R1535H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4604A	3						.						168.0	136.0	147.0					3																	58118655		2203	4300	6503	58093695	SO:0001583	missense	2317	exon27			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4511G>A	3.37:g.58118655G>A	ENSP00000295956:p.Arg1504His		58093695	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927970	0.52759	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;D;T;T;T;D;T	0.91894	-0.62;-0.62;-2.93;-0.62;-0.62;-0.62;-2.93;-0.62	5.62	4.56	0.56223	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.049928	0.85682	D	0.000000	D	0.88511	0.6456	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B;B	0.23442	0.002;0.085;0.0;0.002;0.008;0.008	B;B;B;B;B;B	0.18561	0.012;0.022;0.011;0.004;0.02;0.02	D	0.85718	0.1323	10	0.45353	T	0.12	.	15.4261	0.75051	0.0771:0.0:0.9229:0.0	.	1504;1535;1335;1335;1504;1504	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	H	1504;1535;1504;1504;1504;1504;1335;1335	ENSP00000295956:R1504H;ENSP00000420213:R1535H;ENSP00000351339:R1504H;ENSP00000415599:R1504H;ENSP00000232447:R1504H;ENSP00000349819:R1504H;ENSP00000418510:R1335H;ENSP00000414532:R1335H	ENSP00000295956:R1504H	R	+	2	0	FLNB	58093695	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	4.164000	0.58190	2.648000	0.89879	0.650000	0.86243	CGC		0.507	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
PDHB	5162	broad.mit.edu	37	3	58417651	58417651	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:58417651C>T	ENST00000302746.6	-	3	199	c.157G>A	c.(157-159)Gta>Ata	p.V53I	PDHB_ENST00000474765.1_Missense_Mutation_p.V35I|PDHB_ENST00000485460.1_Missense_Mutation_p.V53I	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	53					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.V53I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	Pyruvic acid(DB00119)	AGCAGAAATACCTTCTCATCT	0.398																																					p.V53I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G157A	3						.						116.0	116.0	116.0					3																	58417651		2203	4300	6503	58392691	SO:0001583	missense	5162	exon3				CCDS2890.1, CCDS54602.1	3p21.1-p14.2	1995-12-20			ENSG00000168291	ENSG00000168291	1.2.4.1		8808	protein-coding gene	gene with protein product		179060					Standard	NR_033384		Approved		uc003dkf.4	P11177	OTTHUMG00000159157	ENST00000302746.6:c.157G>A	3.37:g.58417651C>T	ENSP00000307241:p.Val53Ile		58392691	NM_000925	B2R7L0|B4DDD7|Q6FH45|Q9BQ27|Q9UFK3	Missense_Mutation	SNP	ENST00000302746.6	37	CCDS2890.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553063	0.96501	.	.	ENSG00000168291	ENST00000302746;ENST00000383714;ENST00000485460;ENST00000474765	D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42	5.68	5.68	0.88126	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	M	0.81112	2.525	0.80722	D	1	P;D;P;D	0.76494	0.875;0.995;0.732;0.999	P;D;P;D	0.91635	0.796;0.986;0.693;0.999	D	0.97385	0.9985	10	0.59425	D	0.04	-23.1155	19.791	0.96456	0.0:1.0:0.0:0.0	.	53;35;35;53	B4DDD7;C9J634;P11177-2;P11177	.;.;.;ODPB_HUMAN	I	53;35;53;35	ENSP00000307241:V53I;ENSP00000373220:V35I;ENSP00000417267:V53I;ENSP00000418448:V35I	ENSP00000307241:V53I	V	-	1	0	PDHB	58392691	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.601000	0.67606	2.677000	0.91161	0.491000	0.48974	GTA		0.398	PDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353558.1		
FAM3D	131177	broad.mit.edu	37	3	58622081	58622081	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:58622081G>A	ENST00000358781.2	-	9	835	c.525C>T	c.(523-525)ttC>ttT	p.F175F	RP11-475O23.3_ENST00000464125.1_RNA	NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	175					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)	p.F175F(1)		large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		AGCTGTCCCGGAAGCCCAGTT	0.547																																					p.F175F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C525T	3						.						82.0	83.0	83.0					3																	58622081		2203	4300	6503	58597121	SO:0001819	synonymous_variant	131177	exon9			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.525C>T	3.37:g.58622081G>A			58597121	NM_138805	Q547G2	Silent	SNP	ENST00000358781.2	37	CCDS2893.1																																																																																				0.547	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353494.1	NM_138805	
PTPRG	5793	broad.mit.edu	37	3	62278211	62278211	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:62278211C>T	ENST00000474889.1	+	29	4548	c.4171C>T	c.(4171-4173)Cct>Tct	p.P1391S	PTPRG-AS1_ENST00000498655.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.P1362S|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1391	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P1391S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCTTATGAGGCCTGGAGTATT	0.408																																					p.P1391S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4171T	3						.						134.0	133.0	134.0					3																	62278211		2203	4300	6503	62253251	SO:0001583	missense	5793	exon29			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.4171C>T	3.37:g.62278211C>T	ENSP00000418112:p.Pro1391Ser		62253251	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762862	0.89932	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.13420	2.59;2.59	4.86	4.86	0.63082	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.997;0.984;0.999	D;D;D	0.76575	0.934;0.921;0.988	T	0.15723	-1.0427	10	0.87932	D	0	.	18.1774	0.89766	0.0:1.0:0.0:0.0	.	637;1362;1391	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1391;1362	ENSP00000418112:P1391S;ENSP00000295874:P1362S	ENSP00000295874:P1362S	P	+	1	0	PTPRG	62253251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.538000	0.85594	0.585000	0.79938	CCT		0.408	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
CADPS	8618	broad.mit.edu	37	3	62463953	62463953	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:62463953G>A	ENST00000383710.4	-	23	3661	c.3312C>T	c.(3310-3312)atC>atT	p.I1104I	CADPS_ENST00000357948.3_Silent_p.I1025I|CADPS_ENST00000283269.9_Silent_p.I1065I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1104	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				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)	p.I1065I(1)|p.I1104I(1)		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)		CACAAGATTCGATCATGTCAC	0.507																																					p.I1025I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3075T	3						.						229.0	202.0	211.0					3																	62463953		2203	4300	6503	62438993	SO:0001819	synonymous_variant	8618	exon20			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.3312C>T	3.37:g.62463953G>A			62438993	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.04|10.04	1.240501|1.240501	0.22711|0.22711	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000466621|ENST00000473635	.|.	.|.	.|.	6.06|6.06	-0.434|-0.434	0.12283|0.12283	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52191	.|0.1719	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41716	.|-0.9493	.|4	.|.	.|.	.|.	.|.	6.9162|6.9162	0.24361|0.24361	0.4715:0.0:0.4118:0.1168|0.4715:0.0:0.4118:0.1168	.|.	.|.	.|.	.|.	X|L	16|91	.|.	.|.	R|S	-|-	1|2	2|0	CADPS|CADPS	62438993|62438993	0.964000|0.964000	0.33143|0.33143	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	0.238000|0.238000	0.18004|0.18004	-0.045000|-0.045000	0.13468|0.13468	-0.302000|-0.302000	0.09304|0.09304	CGA|TCG		0.507	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
CADPS	8618	broad.mit.edu	37	3	62631435	62631435	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:62631435C>A	ENST00000383710.4	-	6	1636	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D	CADPS_ENST00000357948.3_Missense_Mutation_p.E429D|CADPS_ENST00000490353.2_Missense_Mutation_p.E429D|CADPS_ENST00000283269.9_Missense_Mutation_p.E429D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	429	C2.				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)	p.E429D(2)		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)		TCTGTAGTTTCTCTCCTCCTT	0.448																																					p.E429D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1287T	3						.						221.0	207.0	211.0					3																	62631435		2203	4300	6503	62606475	SO:0001583	missense	8618	exon6			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.1287G>T	3.37:g.62631435C>A	ENSP00000373215:p.Glu429Asp		62606475	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604469	0.46423	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	T;T;T;T	0.72282	-0.64;-0.64;-0.64;0.78	5.44	3.26	0.37387	C2 calcium-dependent membrane targeting (1);	0.173178	0.50627	D	0.000109	T	0.65698	0.2716	M	0.69823	2.125	0.44323	D	0.997209	P;B;B	0.41008	0.735;0.25;0.156	B;B;B	0.38985	0.287;0.205;0.039	T	0.66416	-0.5929	10	0.45353	T	0.12	.	7.8357	0.29368	0.0:0.6696:0.0:0.3304	.	429;429;429	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	D	429	ENSP00000373215:E429D;ENSP00000350632:E429D;ENSP00000283269:E429D;ENSP00000418736:E429D	ENSP00000283269:E429D	E	-	3	2	CADPS	62606475	0.995000	0.38212	1.000000	0.80357	0.973000	0.67179	0.458000	0.21892	1.428000	0.47296	0.655000	0.94253	GAG		0.448	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
CADPS	8618	broad.mit.edu	37	3	62648032	62648032	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:62648032C>T	ENST00000383710.4	-	4	1275	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R309Q|CADPS_ENST00000490353.2_Missense_Mutation_p.R309Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R309Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	309					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)	p.R309Q(2)		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)		ATCCAGCTCTCGTCTGATCTG	0.498																																					p.R309Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G926A	3						.						168.0	139.0	149.0					3																	62648032		2203	4300	6503	62623072	SO:0001583	missense	8618	exon4			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.926G>A	3.37:g.62648032C>T	ENSP00000373215:p.Arg309Gln		62623072	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	35	5.570694	0.96540	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	M	0.83483	2.645	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.91635	0.999;0.964;0.978	D	0.93708	0.7021	10	0.87932	D	0	.	18.2515	0.90005	0.0:1.0:0.0:0.0	.	309;309;309	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	Q	309	ENSP00000373215:R309Q;ENSP00000350632:R309Q;ENSP00000283269:R309Q;ENSP00000418736:R309Q	ENSP00000283269:R309Q	R	-	2	0	CADPS	62623072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.111000	0.77077	2.606000	0.88127	0.655000	0.94253	CGA		0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
CADPS	8618	broad.mit.edu	37	3	62739262	62739262	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:62739262C>T	ENST00000383710.4	-	3	1091	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CADPS_ENST00000357948.3_Missense_Mutation_p.E248K|CADPS_ENST00000490353.2_Missense_Mutation_p.E248K|CADPS_ENST00000283269.9_Missense_Mutation_p.E248K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	248					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)	p.E248K(2)		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)		GGGTCCTCTTCTCCACGGTAG	0.562																																					p.E248K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G742A	3						.						61.0	62.0	62.0					3																	62739262		2203	4300	6503	62714302	SO:0001583	missense	8618	exon3			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.742G>A	3.37:g.62739262C>T	ENSP00000373215:p.Glu248Lys		62714302	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904064	0.92035	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.88	5.88	0.94601	.	0.153691	0.64402	D	0.000018	D	0.86628	0.5978	M	0.74881	2.28	0.80722	D	1	P;P;P	0.44521	0.837;0.675;0.454	P;B;B	0.44946	0.465;0.164;0.054	D	0.87383	0.2358	10	0.62326	D	0.03	.	20.2228	0.98330	0.0:1.0:0.0:0.0	.	248;248;248	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	K	248	ENSP00000373215:E248K;ENSP00000350632:E248K;ENSP00000283269:E248K;ENSP00000418736:E248K	ENSP00000283269:E248K	E	-	1	0	CADPS	62714302	1.000000	0.71417	0.940000	0.37924	0.875000	0.50365	7.818000	0.86416	2.789000	0.95967	0.655000	0.94253	GAA		0.562	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
ATXN7	6314	broad.mit.edu	37	3	63965680	63965680	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:63965680G>A	ENST00000295900.6	+	6	1139	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ATXN7_ENST00000398590.3_Missense_Mutation_p.G197R|ATXN7_ENST00000484332.1_Missense_Mutation_p.G52R|ATXN7_ENST00000487717.1_Missense_Mutation_p.G197R|ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000538065.1_Missense_Mutation_p.G197R	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	197	Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CAAAAGCAAAGGAGGCAGTGC	0.473																																					p.G197R												.	.	0			c.G589A	3						.						88.0	87.0	87.0					3																	63965680		1981	4192	6173	63940720	SO:0001583	missense	6314	exon5			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.589G>A	3.37:g.63965680G>A	ENSP00000295900:p.Gly197Arg		63940720	NM_001177387	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	ENST00000295900.6	37	CCDS43102.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057613	0.76074	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.76	4.89	0.63831	.	0.584880	0.18822	N	0.130235	T	0.36524	0.0970	L	0.48642	1.525	0.58432	D	0.999995	P;D;P;P	0.63880	0.808;0.993;0.928;0.883	B;P;P;P	0.52758	0.28;0.708;0.668;0.467	T	0.04537	-1.0944	10	0.30078	T	0.28	-3.223	10.4478	0.44505	0.07:0.1334:0.7965:0.0	.	52;52;197;197	E9PHP9;B4E207;O15265-2;O15265	.;.;.;ATX7_HUMAN	R	197;197;197;197;52	ENSP00000381590:G197R;ENSP00000295900:G197R;ENSP00000420234:G197R;ENSP00000439585:G197R;ENSP00000428277:G52R	ENSP00000295900:G197R	G	+	1	0	ATXN7	63940720	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.474000	0.53129	1.441000	0.47550	0.655000	0.94253	GGA		0.473	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
PRICKLE2	166336	broad.mit.edu	37	3	64085446	64085446	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:64085446G>A	ENST00000295902.6	-	8	2401	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R662C|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	606					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R606C(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGCAGGCTGCGAACTGACTCT	0.562																																					p.R606C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1816T	3						.						130.0	126.0	127.0					3																	64085446		2203	4300	6503	64060486	SO:0001583	missense	166336	exon8			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1816C>T	3.37:g.64085446G>A	ENSP00000295902:p.Arg606Cys		64060486	NM_198859	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154300	0.78114	.	.	ENSG00000163637	ENST00000295902	D	0.85013	-1.93	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	D	0.87229	0.6125	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	P	0.50490	0.642	D	0.88398	0.3013	10	0.87932	D	0	-38.946	19.6573	0.95847	0.0:0.0:1.0:0.0	.	606	Q7Z3G6	PRIC2_HUMAN	C	606	ENSP00000295902:R606C	ENSP00000295902:R606C	R	-	1	0	PRICKLE2	64060486	1.000000	0.71417	0.961000	0.40146	0.839000	0.47603	5.482000	0.66833	2.655000	0.90218	0.591000	0.81541	CGC		0.562	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
ADAMTS9	56999	broad.mit.edu	37	3	64536600	64536600	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:64536600C>T	ENST00000498707.1	-	31	5179	c.4837G>A	c.(4837-4839)Gag>Aag	p.E1613K	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E1585K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1613	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1613K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGACATACTCGCAGGGTTGC	0.567																																					p.E1613K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4837A	3						.						181.0	142.0	156.0					3																	64536600		2203	4300	6503	64511640	SO:0001583	missense	56999	exon31			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4837G>A	3.37:g.64536600C>T	ENSP00000418735:p.Glu1613Lys		64511640	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808120	0.50421	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.58797	0.31;0.32	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	N	0.17764	0.52	0.80722	D	1	B;D;B	0.89917	0.075;1.0;0.075	B;D;B	0.80764	0.013;0.994;0.008	T	0.52631	-0.8550	10	0.07482	T	0.82	.	19.7971	0.96490	0.0:1.0:0.0:0.0	.	1585;1613;1613	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	K	1585;1613	ENSP00000295903:E1585K;ENSP00000418735:E1613K	ENSP00000295903:E1585K	E	-	1	0	ADAMTS9	64511640	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.357000	0.52277	2.666000	0.90696	0.585000	0.79938	GAG		0.567	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
ADAMTS9	56999	broad.mit.edu	37	3	64608191	64608191	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:64608191G>A	ENST00000498707.1	-	17	2803	c.2461C>T	c.(2461-2463)Cgc>Tgc	p.R821C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R793C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	821	Spacer.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R821C(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTCCCAATGCGAATTTCCCTT	0.398																																					p.R821C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2461T	3						.						113.0	105.0	107.0					3																	64608191		2203	4300	6503	64583231	SO:0001583	missense	56999	exon17			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2461C>T	3.37:g.64608191G>A	ENSP00000418735:p.Arg821Cys		64583231	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339806	0.60963	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.52754	0.65;0.65	5.85	4.9	0.64082	ADAM-TS Spacer 1 (1);	0.206543	0.38492	N	0.001668	T	0.60170	0.2248	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.67145	0.996;0.98;0.996;0.984	P;P;P;P	0.58970	0.849;0.764;0.809;0.849	T	0.61407	-0.7069	10	0.56958	D	0.05	.	11.5533	0.50733	0.0:0.0:0.6151:0.3849	.	793;821;821;821	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	C	793;821	ENSP00000295903:R793C;ENSP00000418735:R821C	ENSP00000295903:R793C	R	-	1	0	ADAMTS9	64583231	1.000000	0.71417	0.988000	0.46212	0.121000	0.20230	6.920000	0.75799	2.767000	0.95098	0.557000	0.71058	CGC		0.398	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
KBTBD8	84541	broad.mit.edu	37	3	67058348	67058348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:67058348G>T	ENST00000417314.2	+	4	1394	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	KBTBD8_ENST00000295568.4_Nonsense_Mutation_p.E423*|KBTBD8_ENST00000460576.1_Nonsense_Mutation_p.E7*			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	449						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)		p.E423*(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TTTTTTAGGAGAATTTTTTCT	0.338																																					p.E449X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1345T	3						.						24.0	26.0	25.0					3																	67058348		2107	4262	6369	67141038	SO:0001587	stop_gained	84541	exon4			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1345G>T	3.37:g.67058348G>T	ENSP00000401878:p.Glu449*		67141038	NM_032505	B4DTW6|Q96JI5	Nonsense_Mutation	SNP	ENST00000417314.2	37	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	36	5.797035	0.96952	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	.	.	.	5.68	5.68	0.88126	.	0.498399	0.18551	U	0.137903	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	.	.	.	X	423;7;449	.	ENSP00000295568:E423X	E	+	1	0	KBTBD8	67141038	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.685000	0.91497	0.650000	0.86243	GAA		0.338	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505	
TMF1	7110	broad.mit.edu	37	3	69087843	69087843	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:69087843C>T	ENST00000398559.2	-	8	2239	c.2023G>A	c.(2023-2025)Gct>Act	p.A675T	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.A678T			P82094	TMF1_HUMAN	TATA element modulatory factor 1	675					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.A675T(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCCTTTGCAGCATTGGCTTTG	0.393																																					p.A675T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2023A	3						.						126.0	115.0	118.0					3																	69087843		1873	4109	5982	69170533	SO:0001583	missense	7110	exon8				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2023G>A	3.37:g.69087843C>T	ENSP00000381567:p.Ala675Thr		69170533	NM_007114	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277177	0.95459	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.23348	1.93;1.91	5.72	5.72	0.89469	.	0.047360	0.85682	D	0.000000	T	0.47783	0.1464	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.983	T	0.10314	-1.0635	10	0.26408	T	0.33	-15.8909	19.8709	0.96851	0.0:1.0:0.0:0.0	.	678;675	P82094-2;P82094	.;TMF1_HUMAN	T	675;678;591	ENSP00000381567:A675T;ENSP00000438706:A678T	ENSP00000348582:A591T	A	-	1	0	TMF1	69170533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.808000	0.86044	2.698000	0.92095	0.591000	0.81541	GCT		0.393	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
TMF1	7110	broad.mit.edu	37	3	69092962	69092962	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:69092962C>A	ENST00000398559.2	-	4	1733	c.1517G>T	c.(1516-1518)aGa>aTa	p.R506I	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.R509I			P82094	TMF1_HUMAN	TATA element modulatory factor 1	506					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.R506I(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTCTGCAATTCTTTGAGTAAA	0.303																																					p.R506I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1517T	3						.						68.0	64.0	65.0					3																	69092962		1804	4083	5887	69175652	SO:0001583	missense	7110	exon4				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1517G>T	3.37:g.69092962C>A	ENSP00000381567:p.Arg506Ile		69175652	NM_007114	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482799	0.96307	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	D;D	0.82619	-1.63;-1.63	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.91412	0.7290	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91719	0.5387	10	0.87932	D	0	-25.0932	19.8362	0.96658	0.0:1.0:0.0:0.0	.	509;506	P82094-2;P82094	.;TMF1_HUMAN	I	506;509;422;506	ENSP00000381567:R506I;ENSP00000438706:R509I	ENSP00000348582:R422I	R	-	2	0	TMF1	69175652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.690000	0.91761	0.563000	0.77884	AGA		0.303	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
ARL6IP5	10550	broad.mit.edu	37	3	69151132	69151132	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:69151132T>C	ENST00000273258.3	+	2	423	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	107					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L107L(1)		biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		GGTGGTCATGTTGGCGAGCTA	0.478																																					p.L107L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T319C	3						.						270.0	219.0	236.0					3																	69151132		2203	4300	6503	69233822	SO:0001819	synonymous_variant	10550	exon2			AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"""PRA1 domain family 3"""	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.319T>C	3.37:g.69151132T>C			69233822	NM_006407	B2R6V5|Q53ES3|Q5KU08	Silent	SNP	ENST00000273258.3	37	CCDS2912.1	.	.	.	.	.	.	.	.	.	.	T	1.551	-0.539185	0.04053	.	.	ENSG00000144746	ENST00000412089	.	.	.	5.77	-9.51	0.00581	.	.	.	.	.	T	0.61311	0.2337	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70757	-0.4785	5	0.28530	T	0.3	-15.4542	16.3973	0.83613	0.0:0.6851:0.159:0.156	.	.	.	.	A	93	.	ENSP00000416792:V93A	V	+	2	0	ARL6IP5	69233822	0.058000	0.20735	0.074000	0.20217	0.124000	0.20399	-0.943000	0.03917	-2.128000	0.00818	-0.256000	0.11100	GTT		0.478	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352132.1	NM_006407	
LMOD3	56203	broad.mit.edu	37	3	69168476	69168476	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:69168476G>A	ENST00000420581.2	-	2	1209	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	LMOD3_ENST00000489031.1_Missense_Mutation_p.R344W|LMOD3_ENST00000475434.1_Missense_Mutation_p.R344W	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	344						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R344W(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTGTGAAACCGAAGCTCAGTT	0.458																																					p.R344W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1030T	3						.						286.0	262.0	270.0					3																	69168476		1977	4160	6137	69251166	SO:0001583	missense	56203	exon2			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1030C>T	3.37:g.69168476G>A	ENSP00000414670:p.Arg344Trp		69251166	NM_198271	B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028166	0.75390	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.93189	-3.18;-3.18;-3.18	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.96457	0.8844	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96523	0.9387	10	0.87932	D	0	-20.3601	14.9267	0.70884	0.0:0.0:0.857:0.143	.	344	Q0VAK6	LMOD3_HUMAN	W	344	ENSP00000414670:R344W;ENSP00000417210:R344W;ENSP00000418645:R344W	ENSP00000414670:R344W	R	-	1	2	LMOD3	69251166	1.000000	0.71417	0.984000	0.44739	0.924000	0.55760	5.418000	0.66429	2.779000	0.95612	0.591000	0.81541	CGG		0.458	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1	XM_067529	
GXYLT2	727936	broad.mit.edu	37	3	73024146	73024146	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:73024146C>A	ENST00000389617.4	+	7	1329	c.1168C>A	c.(1168-1170)Ctc>Atc	p.L390I		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	390					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)	p.L390I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TCAAGACAATCTCTTTCAATC	0.348																																					p.L390I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1168A	3						.						121.0	115.0	117.0					3																	73024146		1833	4091	5924	73106836	SO:0001583	missense	727936	exon7			AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.1168C>A	3.37:g.73024146C>A	ENSP00000374268:p.Leu390Ile		73106836	NM_001080393		Missense_Mutation	SNP	ENST00000389617.4	37	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900686	0.52227	.	.	ENSG00000172986	ENST00000389617	.	.	.	5.45	5.45	0.79879	.	0.052317	0.85682	D	0.000000	T	0.58206	0.2106	M	0.61703	1.905	0.47905	D	0.999548	P	0.42785	0.79	B	0.38327	0.271	T	0.64041	-0.6500	9	0.54805	T	0.06	.	19.2765	0.94032	0.0:1.0:0.0:0.0	.	390	A0PJZ3	GXLT2_HUMAN	I	390	.	ENSP00000374268:L390I	L	+	1	0	GXYLT2	73106836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.354000	0.59417	2.544000	0.85801	0.460000	0.39030	CTC		0.348	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393	
ROBO2	6092	broad.mit.edu	37	3	77147226	77147226	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:77147226C>T	ENST00000461745.1	+	2	1023	c.123C>T	c.(121-123)atC>atT	p.I41I	ROBO2_ENST00000487694.3_Silent_p.I57I|ROBO2_ENST00000332191.8_Silent_p.I41I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	41	Ig-like C2-type 1.				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)			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)		CCGATGTCATCGTCTCTAAGG	0.547																																					p.R22C												.	.	0			c.C64T	3						.						46.0	51.0	49.0					3																	77147226		1962	4142	6104	77229916	SO:0001819	synonymous_variant	6092	exon1			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.123C>T	3.37:g.77147226C>T			77229916	NM_001128929	O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	CCDS43109.1																																																																																				0.547	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	broad.mit.edu	37	3	77666773	77666773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:77666773C>T	ENST00000461745.1	+	22	4303	c.3403C>T	c.(3403-3405)Cga>Tga	p.R1135*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.R1151*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.R1135*|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1135					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.R1151*(1)|p.R1135*(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)		ACCTCCTGTTCGAGGCGTGGC	0.517																																					p.R1135X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3403T	3						.						111.0	106.0	108.0					3																	77666773		2035	4190	6225	77749463	SO:0001587	stop_gained	6092	exon22			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.3403C>T	3.37:g.77666773C>T	ENSP00000417164:p.Arg1135*		77749463	NM_002942	O43608|Q19AB4|Q19AB5	Nonsense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	C	41	8.898605	0.98994	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.	.	.	5.58	5.58	0.84498	.	0.000000	0.38164	N	0.001800	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5819	0.95471	0.0:1.0:0.0:0.0	.	.	.	.	X	1151;1151;1135;1135	.	ENSP00000327536:R1135X	R	+	1	2	ROBO2	77749463	0.991000	0.36638	1.000000	0.80357	0.504000	0.33889	2.824000	0.48088	2.624000	0.88883	0.655000	0.94253	CGA		0.517	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO1	6091	broad.mit.edu	37	3	78710372	78710372	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:78710372G>T	ENST00000464233.1	-	16	2241	c.2128C>A	c.(2128-2130)Ctc>Atc	p.L710I	ROBO1_ENST00000436010.2_Missense_Mutation_p.L671I|ROBO1_ENST00000495273.1_Missense_Mutation_p.L674I|ROBO1_ENST00000467549.1_Missense_Mutation_p.L674I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	710	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.L710I(1)|p.L674I(1)|p.L687I(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGCCGATAGAGAATTTTATAT	0.358																																					p.L710I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C2128A	3						.						73.0	71.0	72.0					3																	78710372		1804	4071	5875	78793062	SO:0001583	missense	6091	exon16			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2128C>A	3.37:g.78710372G>T	ENSP00000420321:p.Leu710Ile		78793062	NM_002941	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245275	0.59103	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.28	4.4	0.53042	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050027	0.85682	D	0.000000	T	0.52208	0.1720	L	0.47016	1.485	0.40955	D	0.984577	B;B;P;P;B;B	0.49358	0.206;0.443;0.887;0.923;0.443;0.389	B;B;P;P;B;B	0.49953	0.124;0.395;0.627;0.519;0.395;0.198	T	0.50955	-0.8766	9	.	.	.	.	10.7268	0.46072	0.1472:0.0:0.8528:0.0	.	674;674;710;674;674;671	Q9Y6N7-3;Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;.;ROBO1_HUMAN;.;.;.	I	671;674;710;674;674;714	ENSP00000406043:L671I;ENSP00000420321:L710I;ENSP00000420637:L674I;ENSP00000417992:L674I	.	L	-	1	0	ROBO1	78793062	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	3.689000	0.54706	2.458000	0.83093	0.561000	0.74099	CTC		0.358	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
CADM2	253559	broad.mit.edu	37	3	85961545	85961545	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:85961545G>T	ENST00000407528.2	+	5	587	c.525G>T	c.(523-525)gaG>gaT	p.E175D	CADM2_ENST00000383699.3_Missense_Mutation_p.E184D|CADM2_ENST00000405615.2_Missense_Mutation_p.E177D	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	175	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.E177D(1)|p.E184D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TAAAAGAAGAGGATGCAAATC	0.373																																					p.E175D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G525T	3						.						60.0	51.0	54.0					3																	85961545		2203	4300	6503	86044235	SO:0001583	missense	253559	exon5			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.525G>T	3.37:g.85961545G>T	ENSP00000384575:p.Glu175Asp		86044235	NM_001167674	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947161	0.34377	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76448	-1.02;-1.02;-1.02	5.6	-1.69	0.08186	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101644	0.64402	D	0.000003	T	0.72399	0.3455	M	0.76170	2.325	0.32578	N	0.528924	P;B;B	0.36412	0.552;0.185;0.336	B;B;B	0.38428	0.273;0.049;0.129	T	0.70662	-0.4810	10	0.12766	T	0.61	.	12.6074	0.56531	0.5086:0.0:0.4914:0.0	.	177;184;175	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	D	184;175;177	ENSP00000373200:E184D;ENSP00000384575:E175D;ENSP00000384193:E177D	ENSP00000373200:E184D	E	+	3	2	CADM2	86044235	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	0.903000	0.28475	-0.385000	0.07833	0.591000	0.81541	GAG		0.373	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
CADM2	253559	broad.mit.edu	37	3	86010704	86010704	+	Missense_Mutation	SNP	C	C	A	rs143196702	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:86010704C>A	ENST00000407528.2	+	7	912	c.850C>A	c.(850-852)Ctt>Att	p.L284I	CADM2_ENST00000383699.3_Missense_Mutation_p.L293I|CADM2_ENST00000405615.2_Missense_Mutation_p.L286I	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	284	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.L286I(1)|p.L293I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCTAAACATTCTTTTCCTGAA	0.443													C|||	9	0.00179712	0.0068	0.0	5008	,	,		13064	0.0		0.0	False		,,,				2504	0.0				p.L284I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C850A	3						.	C	ILE/LEU,ILE/LEU,ILE/LEU	4,4402	9.9+/-24.2	0,4,2199	162.0	150.0	154.0		850,877,856	4.3	1.0	3	dbSNP_134	154	0,8600		0,0,4300	yes	missense,missense,missense	CADM2	NM_001167674.1,NM_001167675.1,NM_153184.3	5,5,5	0,4,6499	AA,AC,CC		0.0,0.0908,0.0308	benign,benign,benign	284/436,293/405,286/438	86010704	4,13002	2203	4300	6503	86093394	SO:0001583	missense	253559	exon7			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.850C>A	3.37:g.86010704C>A	ENSP00000384575:p.Leu284Ile		86093394	NM_001167674	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163762	0.38217	9.08E-4	0.0	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.67523	-0.27;-0.27;-0.27	5.31	4.31	0.51392	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.157601	0.56097	D	0.000038	T	0.53916	0.1826	L	0.38531	1.155	0.26508	N	0.974651	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.003	T	0.33854	-0.9852	10	0.20519	T	0.43	.	13.1284	0.59368	0.2704:0.7296:0.0:0.0	.	286;293;284	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	I	293;284;286	ENSP00000373200:L293I;ENSP00000384575:L284I;ENSP00000384193:L286I	ENSP00000373200:L293I	L	+	1	0	CADM2	86093394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.173000	0.58249	2.629000	0.89072	0.650000	0.86243	CTT		0.443	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
PROS1	5627	broad.mit.edu	37	3	93619765	93619765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:93619765C>A	ENST00000394236.3	-	7	926	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.E73*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	204	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		E -> G (in THPH5). {ECO:0000269|PubMed:15712227}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.E204*(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AAAGAGCATTCATCCACATCT	0.383																																					p.E204X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G610T	3						.						48.0	45.0	46.0					3																	93619765		2203	4300	6503	95102455	SO:0001587	stop_gained	5627	exon7				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.610G>T	3.37:g.93619765C>A	ENSP00000377783:p.Glu204*		95102455	NM_000313	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Nonsense_Mutation	SNP	ENST00000394236.3	37	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	37	6.620064	0.97709	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	.	.	.	4.19	4.19	0.49359	.	0.117279	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.061	0.86547	0.0:1.0:0.0:0.0	.	.	.	.	X	204;73	.	ENSP00000377783:E204X	E	-	1	0	PROS1	95102455	1.000000	0.71417	0.998000	0.56505	0.709000	0.40893	6.018000	0.70811	2.341000	0.79615	0.591000	0.81541	GAA		0.383	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313	
CRYBG3	131544	broad.mit.edu	37	3	97596225	97596225	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:97596225G>T	ENST00000182096.4	+	1	407	c.343G>T	c.(343-345)Gat>Tat	p.D115Y		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2063							carbohydrate binding (GO:0030246)	p.D115H(1)|p.D115Y(1)|p.D115N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGAGACATTTGATAGTGATAG	0.413																																					.												.	.	3	Substitution - Missense(3)	cervix(1)|large_intestine(1)|lung(1)	.	3						.						82.0	80.0	80.0					3																	97596225		1905	4111	6016	99078915	SO:0001583	missense	131544	.					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.343G>T	3.37:g.97596225G>T	ENSP00000182096:p.Asp115Tyr		99078915	.	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	G	18.34	3.601511	0.66445	.	.	ENSG00000080200	ENST00000182096	T	0.77098	-1.07	5.68	5.68	0.88126	.	0.332812	0.26553	N	0.023732	T	0.75133	0.3808	L	0.27053	0.805	0.80722	D	1	D	0.53885	0.963	P	0.48901	0.594	T	0.78783	-0.2069	10	0.87932	D	0	.	17.9746	0.89123	0.0:0.0:1.0:0.0	.	115	Q68DQ2	CRBG3_HUMAN	Y	115	ENSP00000182096:D115Y	ENSP00000182096:D115Y	D	+	1	0	CRYBG3	99078915	0.999000	0.42202	0.376000	0.26042	0.993000	0.82548	5.928000	0.70088	2.695000	0.91970	0.650000	0.86243	GAT		0.413	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605	
CRYBG3	131544	broad.mit.edu	37	3	97634535	97634535	+	Silent	SNP	C	C	T	rs368997238		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:97634535C>T	ENST00000182096.4	+	14	2416	c.2352C>T	c.(2350-2352)tgC>tgT	p.C784C		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2732							carbohydrate binding (GO:0030246)	p.C784C(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTACTTCCTGCGGTTGCCCAG	0.393																																					.												.	.	1	Substitution - coding silent(1)	large_intestine(1)	.	3						.	C		0,3786		0,0,1893	132.0	124.0	127.0		8196	1.7	1.0	3		127	1,8221		0,1,4110	no	coding-synonymous	CRYBG3	XM_003118522.2		0,1,6003	TT,TC,CC		0.0122,0.0,0.0083		2732/2971	97634535	1,12007	1893	4111	6004	99117225	SO:0001819	synonymous_variant	131544	.					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2352C>T	3.37:g.97634535C>T			99117225	.	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	37																																																																																					0.393	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605	
OR5H2	79310	broad.mit.edu	37	3	98001798	98001798	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:98001798A>G	ENST00000355273.2	+	1	67	c.67A>G	c.(67-69)Aca>Gca	p.T23A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T23A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CACAGGACTTACATATCAGCC	0.413																																					p.T23A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A67G	3						.						250.0	236.0	241.0					3																	98001798		2203	4300	6503	99484488	SO:0001583	missense	79310	exon1				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.67A>G	3.37:g.98001798A>G	ENSP00000347418:p.Thr23Ala		99484488	NM_001005482	Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	A	8.674	0.903531	0.17760	.	.	ENSG00000197938	ENST00000355273	T	0.00421	7.46	3.2	0.55	0.17219	.	0.831564	0.10021	U	0.725986	T	0.00384	0.0012	M	0.67700	2.07	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.43196	-0.9406	10	0.66056	D	0.02	.	3.8157	0.08815	0.4203:0.1968:0.0:0.3829	.	23	Q8NGV7	OR5H2_HUMAN	A	23	ENSP00000347418:T23A	ENSP00000347418:T23A	T	+	1	0	OR5H2	99484488	0.000000	0.05858	0.059000	0.19551	0.099000	0.18886	-1.987000	0.01483	0.007000	0.14760	-0.429000	0.05907	ACA		0.413	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
OR5K4	403278	broad.mit.edu	37	3	98072790	98072790	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:98072790C>A	ENST00000354924.2	+	1	93	c.93C>A	c.(91-93)ttC>ttA	p.F31L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F31L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTGTGGTGTTCTCTGCCATCT	0.453																																					p.F31L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C93A	3						.						197.0	193.0	194.0					3																	98072790		2203	4300	6503	99555480	SO:0001583	missense	403278	exon1				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.93C>A	3.37:g.98072790C>A	ENSP00000347003:p.Phe31Leu		99555480	NM_001005517		Missense_Mutation	SNP	ENST00000354924.2	37	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817507	0.32145	.	.	ENSG00000196098	ENST00000354924	T	0.04454	3.62	4.77	1.95	0.26073	.	0.000000	0.34245	U	0.004138	T	0.05135	0.0137	L	0.46947	1.48	0.09310	N	0.999996	B	0.23735	0.09	B	0.27076	0.076	T	0.30504	-0.9976	10	0.72032	D	0.01	-39.8843	5.5907	0.17299	0.1629:0.6567:0.0:0.1804	.	31	A6NMS3	OR5K4_HUMAN	L	31	ENSP00000347003:F31L	ENSP00000347003:F31L	F	+	3	2	OR5K4	99555480	0.000000	0.05858	0.339000	0.25562	0.666000	0.39218	-0.734000	0.04893	0.696000	0.31696	0.603000	0.83216	TTC		0.453	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
OR5K1	26339	broad.mit.edu	37	3	98188964	98188964	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:98188964C>T	ENST00000332650.5	+	1	641	c.544C>T	c.(544-546)Ctt>Ttt	p.L182F		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L182F(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTGATATTCTTCCCTTGTA	0.378																																					p.L182F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C544T	3						.						246.0	248.0	248.0					3																	98188964		2203	4299	6502	99671654	SO:0001583	missense	26339	exon1			X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.544C>T	3.37:g.98188964C>T	ENSP00000373193:p.Leu182Phe		99671654	NM_001004736	B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499463	0.26861	.	.	ENSG00000232382	ENST00000332650	T	0.00152	8.66	5.33	2.13	0.27403	GPCR, rhodopsin-like superfamily (1);	0.476362	0.16020	N	0.233323	T	0.00210	0.0006	N	0.25957	0.775	0.09310	N	1	D	0.67145	0.996	D	0.70716	0.97	T	0.57676	-0.7770	10	0.40728	T	0.16	-14.7573	7.3255	0.26553	0.3811:0.5312:0.0:0.0877	.	182	Q8NHB7	OR5K1_HUMAN	F	182	ENSP00000373193:L182F	ENSP00000373193:L182F	L	+	1	0	OR5K1	99671654	0.000000	0.05858	0.809000	0.32408	0.480000	0.33159	-1.133000	0.03232	0.595000	0.29777	0.563000	0.77884	CTT		0.378	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1		
ST3GAL6	10402	broad.mit.edu	37	3	98492775	98492775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:98492775C>T	ENST00000483910.1	+	5	572	c.283C>T	c.(283-285)Cga>Tga	p.R95*	ST3GAL6_ENST00000265261.6_Nonsense_Mutation_p.R9*|ST3GAL6_ENST00000468553.1_Nonsense_Mutation_p.R95*|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000394162.1_Nonsense_Mutation_p.R95*	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	95					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)	p.R95*(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GGAATATTTTCGACTTGCTCT	0.378																																					p.R95X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C283T	3						.						196.0	186.0	189.0					3																	98492775		2203	4299	6502	99975465	SO:0001587	stop_gained	10402	exon6			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.283C>T	3.37:g.98492775C>T	ENSP00000417376:p.Arg95*		99975465	NM_006100	B2RCH2|B3KMI1|D3DN39|F8W6U0	Nonsense_Mutation	SNP	ENST00000483910.1	37	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635287	0.87760	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000468553;ENST00000485391;ENST00000492254;ENST00000477574;ENST00000485145	.	.	.	5.51	3.64	0.41730	.	1.054780	0.07365	N	0.884691	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3613	10.9233	0.47178	0.3454:0.6546:0.0:0.0	.	.	.	.	X	95;9;95;95;95;95;95;118;60;9	.	ENSP00000265261:R9X	R	+	1	2	ST3GAL6	99975465	0.911000	0.30947	0.282000	0.24776	0.997000	0.91878	1.646000	0.37249	0.617000	0.30160	0.651000	0.88453	CGA		0.378	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100	
IQCG	84223	broad.mit.edu	37	3	197670810	197670810	+	Missense_Mutation	SNP	T	T	C	rs200833541		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr3:197670810T>C	ENST00000265239.6	-	4	545	c.121A>G	c.(121-123)Aca>Gca	p.T41A	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000455191.1_Missense_Mutation_p.T41A|IQCG_ENST00000453254.1_Missense_Mutation_p.T41A	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	41						extracellular vesicular exosome (GO:0070062)		p.T41A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TCTATGTCTGTTTCTTTAGGT	0.483																																					p.T41A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A121G	3						.						154.0	147.0	149.0					3																	197670810		2203	4300	6503	199155207	SO:0001583	missense	84223	exon4			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.121A>G	3.37:g.197670810T>C	ENSP00000265239:p.Thr41Ala		199155207	NM_032263	Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	CCDS3331.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	4.537	0.099714	0.08681	.	.	ENSG00000114473	ENST00000265239;ENST00000455191;ENST00000453254;ENST00000416896;ENST00000452735	T;T;T;T	0.46063	0.89;0.89;0.88;0.92	4.87	-4.8	0.03190	.	1.792160	0.02449	N	0.085352	T	0.24470	0.0593	N	0.20685	0.6	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.13710	-1.0499	10	0.14656	T	0.56	1.8891	7.4298	0.27120	0.0:0.4645:0.3428:0.1927	.	41;41	C9JKX8;Q9H095	.;IQCG_HUMAN	A	41;41;41;22;41	ENSP00000265239:T41A;ENSP00000407736:T41A;ENSP00000389897:T41A;ENSP00000406411:T22A	ENSP00000265239:T41A	T	-	1	0	IQCG	199155207	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.918000	0.01574	-0.712000	0.04988	0.451000	0.29950	ACA		0.483	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263	
ZNF518B	85460	broad.mit.edu	37	4	10447326	10447326	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:10447326C>T	ENST00000326756.3	-	3	1065	c.627G>A	c.(625-627)acG>acA	p.T209T		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	209					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T209T(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GTACTCTCTTCGTGTGTTTGA	0.428																																					p.T209T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	4						.						175.0	180.0	178.0					4																	10447326		2203	4300	6503	10056424	SO:0001819	synonymous_variant	85460	exon3			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.627G>A	4.37:g.10447326C>T			10056424	NM_053042	Q96LN8	Silent	SNP	ENST00000326756.3	37	CCDS33960.1																																																																																				0.428	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
TRMT10A	93587	broad.mit.edu	37	4	100479277	100479277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:100479277G>A	ENST00000273962.3	-	3	589	c.277C>T	c.(277-279)Cga>Tga	p.R93*	TRMT10A_ENST00000394876.2_Nonsense_Mutation_p.R93*|TRMT10A_ENST00000394877.3_Nonsense_Mutation_p.R93*	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	93	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.				magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.R93*(1)									ACATCTCTTCGAACACGTTTT	0.348																																					p.R93X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C277T	4						.						252.0	204.0	220.0					4																	100479277		2203	4300	6503	100698300	SO:0001587	stop_gained	93587	exon3			BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.277C>T	4.37:g.100479277G>A	ENSP00000273962:p.Arg93*		100698300	NM_001134665	B2R8X7|Q9Y2T9	Nonsense_Mutation	SNP	ENST00000273962.3	37	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	36	5.864254	0.97043	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	.	.	.	5.78	4.93	0.64822	.	0.057498	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-5.4577	10.8063	0.46520	0.0675:0.0:0.8001:0.1324	.	.	.	.	X	93	.	ENSP00000273962:R93X	R	-	1	2	RG9MTD2	100698300	1.000000	0.71417	0.901000	0.35422	0.878000	0.50629	2.784000	0.47774	1.569000	0.49696	0.591000	0.81541	CGA		0.348	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1	NM_152292	
CLNK	116449	broad.mit.edu	37	4	10567679	10567679	+	Silent	SNP	C	C	T	rs574119157		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:10567679C>T	ENST00000226951.6	-	6	485	c.246G>A	c.(244-246)tcG>tcA	p.S82S	CLNK_ENST00000442825.2_Silent_p.S40S|CLNK_ENST00000507719.1_Silent_p.S40S	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	82					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)	p.S82S(2)		NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AAATTTTAATCGACTGCCATG	0.453													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17956	0.0		0.0	False		,,,				2504	0.0				p.S82S	GBM(87;402 1286 6949 13902 35851)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G246A	4						.						88.0	85.0	86.0					4																	10567679		1897	4134	6031	10176777	SO:0001819	synonymous_variant	116449	exon6			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.246G>A	4.37:g.10567679C>T			10176777	NM_052964	Q05C27|Q9P2U9	Silent	SNP	ENST00000226951.6	37	CCDS47024.1																																																																																				0.453	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964	
MTTP	4547	broad.mit.edu	37	4	100528025	100528025	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:100528025C>A	ENST00000265517.5	+	11	1668	c.1465C>A	c.(1465-1467)Ctt>Att	p.L489I	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.L489I|MTTP_ENST00000511045.1_Missense_Mutation_p.L516I			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	489	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.L489I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CATCCCAAGTCTTCTGAAGTA	0.478																																					p.L489I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1465A	4						.						63.0	66.0	65.0					4																	100528025		2203	4300	6503	100747048	SO:0001583	missense	4547	exon12				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1465C>A	4.37:g.100528025C>A	ENSP00000265517:p.Leu489Ile		100747048	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090996	0.76756	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.74209	-0.82;-0.82;-0.82	5.51	5.51	0.81932	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.066069	0.64402	D	0.000002	D	0.83917	0.5358	M	0.78637	2.42	0.54753	D	0.999984	P;D	0.61080	0.924;0.989	P;P	0.60117	0.738;0.869	T	0.80009	-0.1562	10	0.13853	T	0.58	-29.2756	19.4201	0.94719	0.0:1.0:0.0:0.0	.	516;489	E9PBP6;P55157	.;MTP_HUMAN	I	516;489;489;489	ENSP00000427679:L516I;ENSP00000400821:L489I;ENSP00000265517:L489I	ENSP00000265517:L489I	L	+	1	0	MTTP	100747048	1.000000	0.71417	0.624000	0.29186	0.653000	0.38743	2.583000	0.46094	2.576000	0.86940	0.655000	0.94253	CTT		0.478	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
MANBA	4126	broad.mit.edu	37	4	103553302	103553302	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:103553302C>T	ENST00000226578.4	-	17	2651	c.2552G>A	c.(2551-2553)cGa>cAa	p.R851Q	MANBA_ENST00000505239.1_Missense_Mutation_p.R794Q	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	851					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.R851Q(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAATATAGTTCGTGTCTTCTC	0.448																																					p.R851Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2552A	4						.						113.0	114.0	114.0					4																	103553302		2203	4300	6503	103772350	SO:0001583	missense	4126	exon17				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2552G>A	4.37:g.103553302C>T	ENSP00000226578:p.Arg851Gln		103772350	NM_005908	Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769927	0.31320	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.69175	-0.38;-0.38	5.15	1.86	0.25419	.	0.417362	0.25375	N	0.031138	T	0.43942	0.1270	L	0.50333	1.59	0.09310	N	1	P;B	0.45348	0.856;0.135	B;B	0.30105	0.111;0.018	T	0.35822	-0.9773	10	0.23302	T	0.38	-10.9435	1.9477	0.03360	0.2781:0.3464:0.0:0.3755	.	794;851	E9PFW2;O00462	.;MANBA_HUMAN	Q	851;794	ENSP00000226578:R851Q;ENSP00000427322:R794Q	ENSP00000226578:R851Q	R	-	2	0	MANBA	103772350	0.000000	0.05858	0.016000	0.15963	0.927000	0.56198	0.118000	0.15605	0.518000	0.28383	0.460000	0.39030	CGA		0.448	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2		
CENPE	1062	broad.mit.edu	37	4	104030019	104030019	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:104030019G>T	ENST00000265148.3	-	48	8041	c.7952C>A	c.(7951-7953)tCt>tAt	p.S2651Y	CENPE_ENST00000380026.3_Missense_Mutation_p.S2530Y	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2651	Globular autoinhibitory domain. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.S2614Y(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGATGGTAAAGACTTTGATCG	0.378																																					p.S2651Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7952A	4						.						154.0	151.0	152.0					4																	104030019		2203	4300	6503	104249468	SO:0001583	missense	1062	exon48			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7952C>A	4.37:g.104030019G>T	ENSP00000265148:p.Ser2651Tyr		104249468	NM_001813	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035311	0.54896	.	.	ENSG00000138778	ENST00000265148;ENST00000380026	T;T	0.70282	-0.47;-0.45	5.19	5.19	0.71726	.	.	.	.	.	T	0.81786	0.4896	M	0.61703	1.905	0.32776	N	0.503089	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85430	0.1148	9	0.59425	D	0.04	.	14.2305	0.65890	0.0:0.0:1.0:0.0	.	2530;2651	Q02224-3;Q02224	.;CENPE_HUMAN	Y	2651;2530	ENSP00000265148:S2651Y;ENSP00000369365:S2530Y	ENSP00000265148:S2651Y	S	-	2	0	CENPE	104249468	1.000000	0.71417	0.990000	0.47175	0.368000	0.29767	3.330000	0.52068	2.418000	0.82041	0.655000	0.94253	TCT		0.378	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TACR3	6870	broad.mit.edu	37	4	104640366	104640366	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:104640366T>G	ENST00000304883.2	-	1	607	c.467A>C	c.(466-468)aAc>aCc	p.N156T		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	156					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCGGCAGTAGTTGGCGCCAAA	0.542																																					p.N156T												.	.	0			c.A467C	4						.						89.0	82.0	84.0					4																	104640366		2203	4300	6503	104859815	SO:0001583	missense	6870	exon1			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.467A>C	4.37:g.104640366T>G	ENSP00000303325:p.Asn156Thr		104859815	NM_001059	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	T	10.33	1.321587	0.23994	.	.	ENSG00000169836	ENST00000304883	T	0.71341	-0.56	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.582229	0.18121	N	0.151050	T	0.41143	0.1146	N	0.01219	-0.95	0.31279	N	0.690806	B	0.15473	0.013	B	0.17098	0.017	T	0.43814	-0.9368	10	0.22706	T	0.39	.	10.2936	0.43610	0.0:0.0:0.282:0.718	.	156	P29371	NK3R_HUMAN	T	156	ENSP00000303325:N156T	ENSP00000303325:N156T	N	-	2	0	TACR3	104859815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.590000	0.23954	1.981000	0.57761	0.482000	0.46254	AAC		0.542	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
GSTCD	79807	broad.mit.edu	37	4	106755724	106755724	+	Missense_Mutation	SNP	A	A	G	rs375753714		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:106755724A>G	ENST00000515279.1	+	9	1857	c.1637A>G	c.(1636-1638)aAc>aGc	p.N546S	GSTCD_ENST00000394730.3_Missense_Mutation_p.N459S|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000360505.5_Missense_Mutation_p.N546S|GSTCD_ENST00000394728.3_Missense_Mutation_p.N546S			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	546						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTCATTCAGAACACCTCAAAG	0.408																																					p.N459S												.	.	0			c.A1376G	4						.						129.0	122.0	124.0					4																	106755724		1915	4136	6051	106975173	SO:0001583	missense	79807	exon9			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.1637A>G	4.37:g.106755724A>G	ENSP00000422354:p.Asn546Ser		106975173	NM_024751	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	ENST00000515279.1	37	CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078032	0.76528	.	.	ENSG00000138780	ENST00000394730;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.74	4.57	0.56435	.	0.044737	0.85682	D	0.000000	T	0.67552	0.2905	M	0.65975	2.015	0.51767	D	0.999935	P;P	0.52170	0.951;0.656	P;B	0.56865	0.808;0.345	T	0.67511	-0.5652	9	0.46703	T	0.11	-2.2283	11.276	0.49168	0.9293:0.0:0.0707:0.0	.	546;169	Q8NEC7;B7Z8J7	GSTCD_HUMAN;.	S	459;546;546;546	.	ENSP00000353695:N546S	N	+	2	0	GSTCD	106975173	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.942000	0.70203	1.027000	0.39758	0.482000	0.46254	AAC		0.408	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	
SGMS2	166929	broad.mit.edu	37	4	108829804	108829804	+	Missense_Mutation	SNP	G	G	A	rs556597938		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:108829804G>A	ENST00000394684.4	+	6	1368	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	SGMS2_ENST00000359079.4_Missense_Mutation_p.E271K|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.E271K|RP11-286E11.1_ENST00000513071.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	271					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.E271K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		TGTAGCACACGAACACTACAC	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		19778	0.0		0.0	False		,,,				2504	0.001				p.E271K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	4						.						229.0	203.0	212.0					4																	108829804		2203	4300	6503	109049253	SO:0001583	missense	166929	exon5			BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.811G>A	4.37:g.108829804G>A	ENSP00000378176:p.Glu271Lys		109049253	NM_001136257	A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	G	34	5.335936	0.95758	.	.	ENSG00000164023	ENST00000394684;ENST00000503862;ENST00000359079;ENST00000394686	T;T;T;T	0.74209	1.01;-0.82;1.01;1.01	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	L	0.31804	0.96	0.80722	D	1	P	0.51147	0.942	P	0.46885	0.53	T	0.63800	-0.6555	10	0.06625	T	0.88	-13.5923	19.2282	0.93825	0.0:0.0:1.0:0.0	.	271	Q8NHU3	SMS2_HUMAN	K	271;98;271;271	ENSP00000378176:E271K;ENSP00000428176:E98K;ENSP00000351981:E271K;ENSP00000378178:E271K	ENSP00000351981:E271K	E	+	1	0	SGMS2	109049253	1.000000	0.71417	0.943000	0.38184	0.972000	0.66771	9.396000	0.97270	2.621000	0.88768	0.591000	0.81541	GAA		0.438	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621	
OSTC	58505	broad.mit.edu	37	4	109571822	109571822	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:109571822T>C	ENST00000361564.4	+	1	83	c.11T>C	c.(10-12)tTg>tCg	p.L4S	RNU6-431P_ENST00000383874.1_RNA|OSTC_ENST00000505745.1_3'UTR|OSTC_ENST00000512478.2_Missense_Mutation_p.L4S	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	4					protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|oligosaccharyltransferase complex (GO:0008250)				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ATGGAGACTTTGTACCGTGTC	0.617																																					p.L4S												.	.	0			c.T11C	4						.						68.0	68.0	68.0					4																	109571822		2203	4300	6503	109791271	SO:0001583	missense	58505	exon1			AF201937	CCDS3681.1, CCDS58921.1, CCDS75177.1	4q25	2013-03-06	2013-03-06		ENSG00000198856	ENSG00000198856			24448	protein-coding gene	gene with protein product	"""DC2 protein"""		"""oligosaccharyltransferase complex subunit"""			15835887	Standard	NM_021227		Approved	DC2	uc031sgt.1	Q9NRP0	OTTHUMG00000161031	ENST00000361564.4:c.11T>C	4.37:g.109571822T>C	ENSP00000354676:p.Leu4Ser		109791271	NM_021227	A8MYS2|B2R5H1|D6RH22|Q9P075|Q9P1R4	Missense_Mutation	SNP	ENST00000361564.4	37	CCDS3681.1	.	.	.	.	.	.	.	.	.	.	T	32	5.108154	0.94292	.	.	ENSG00000198856	ENST00000361564;ENST00000512478	.	.	.	5.07	5.07	0.68467	.	0.109396	0.40469	U	0.001094	T	0.77922	0.4203	M	0.85630	2.765	0.80722	D	1	D	0.63880	0.993	P	0.58660	0.843	T	0.81486	-0.0911	8	.	.	.	.	15.1502	0.72692	0.0:0.0:0.0:1.0	.	4	Q9NRP0	OSTC_HUMAN	S	4	.	.	L	+	2	0	OSTC	109791271	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	7.419000	0.80179	2.040000	0.60383	0.533000	0.62120	TTG		0.617	OSTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363485.1	NM_021227	
COL25A1	84570	broad.mit.edu	37	4	109769918	109769918	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:109769918C>T	ENST00000399132.1	-	27	1961	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	COL25A1_ENST00000399126.1_Silent_p.E477E|COL25A1_ENST00000399127.1_Silent_p.E450E	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1									p.E477E(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AAATTACCTGCTCTCCATCCA	0.353																																					p.E477E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1431A	4						.						116.0	102.0	107.0					4																	109769918		1837	4087	5924	109989367	SO:0001819	synonymous_variant	84570	exon26			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1431G>A	4.37:g.109769918C>T			109989367	NM_198721		Silent	SNP	ENST00000399132.1	37	CCDS43258.1																																																																																				0.353	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	
SEC24B	10427	broad.mit.edu	37	4	110427571	110427571	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:110427571A>C	ENST00000265175.5	+	7	1631	c.1576A>C	c.(1576-1578)Aac>Cac	p.N526H	SEC24B_ENST00000399100.2_Missense_Mutation_p.N491H|SEC24B_ENST00000504968.2_Missense_Mutation_p.N556H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	526					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)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	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)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.N526H(1)|p.N491H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GAGACCTGTAAACCTTACTCA	0.438																																					p.N526H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1576C	4						.						141.0	135.0	137.0					4																	110427571		1882	4114	5996	110647020	SO:0001583	missense	10427	exon7			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1576A>C	4.37:g.110427571A>C	ENSP00000265175:p.Asn526His		110647020	NM_006323	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.562248	0.86335	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.23754	1.89;1.89;1.89	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.98;0.98;0.98;0.991;0.98	T	0.58075	-0.7700	10	0.72032	D	0.01	-19.7122	15.9206	0.79562	1.0:0.0:0.0:0.0	.	440;125;556;491;526	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	H	556;491;526	ENSP00000428564:N556H;ENSP00000382051:N491H;ENSP00000265175:N526H	ENSP00000265175:N526H	N	+	1	0	SEC24B	110647020	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	9.108000	0.94275	2.148000	0.66965	0.482000	0.46254	AAC		0.438	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
ANK2	287	broad.mit.edu	37	4	114278919	114278919	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:114278919C>T	ENST00000357077.4	+	38	9198	c.9145C>T	c.(9145-9147)Cgg>Tgg	p.R3049W	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R3016W|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3049					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3049W(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGTGAAATTCGGGAAGACGA	0.433																																					p.R3049W												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C9145T	4						.						85.0	83.0	84.0					4																	114278919		2203	4300	6503	114498368	SO:0001583	missense	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9145C>T	4.37:g.114278919C>T	ENSP00000349588:p.Arg3049Trp		114498368	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059464	0.55325	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.97352	-0.77;-0.78;-4.35	5.78	5.78	0.91487	.	0.000000	0.56097	D	0.000027	D	0.98160	0.9392	M	0.73962	2.25	0.80722	D	1	P;D	0.89917	0.914;1.0	B;D	0.91635	0.197;0.999	D	0.98510	1.0618	10	0.66056	D	0.02	.	14.8087	0.69977	0.144:0.856:0.0:0.0	.	3016;3049	Q01484;Q01484-4	ANK2_HUMAN;.	W	3049;3016;59	ENSP00000349588:R3049W;ENSP00000264366:R3016W;ENSP00000422498:R59W	ENSP00000264366:R3016W	R	+	1	2	ANK2	114498368	0.995000	0.38212	1.000000	0.80357	0.966000	0.64601	1.964000	0.40462	2.724000	0.93272	0.563000	0.77884	CGG		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114282001	114282001	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:114282001G>A	ENST00000357077.4	+	39	10757	c.10704G>A	c.(10702-10704)cgG>cgA	p.R3568R	ANK2_ENST00000394537.3_Silent_p.R1483R|ANK2_ENST00000506722.1_Silent_p.R1474R|ANK2_ENST00000510275.2_Silent_p.R135R|ANK2_ENST00000264366.6_Silent_p.R3535R|ANK2_ENST00000509550.1_Silent_p.R659R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3568					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R3568R(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGCAGGAACGGATCGAGGAAA	0.448																																					p.R1483R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4449A	4						.						140.0	122.0	128.0					4																	114282001		2203	4300	6503	114501450	SO:0001819	synonymous_variant	287	exon38			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10704G>A	4.37:g.114282001G>A			114501450	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	9.424	1.083778	0.20309	.	.	ENSG00000145362	ENST00000514960;ENST00000504415	.	.	.	5.19	3.24	0.37175	.	.	.	.	.	T	0.61924	0.2386	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59910	-0.7365	4	.	.	.	.	11.4805	0.50322	0.0733:0.0:0.7933:0.1333	.	.	.	.	N	485;136	.	.	D	+	1	0	ANK2	114501450	0.999000	0.42202	0.997000	0.53966	0.993000	0.82548	0.500000	0.22562	1.195000	0.43115	0.557000	0.71058	GAT		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ANK2	287	broad.mit.edu	37	4	114284560	114284560	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:114284560C>A	ENST00000357077.4	+	40	10876	c.10823C>A	c.(10822-10824)tCt>tAt	p.S3608Y	ANK2_ENST00000394537.3_Missense_Mutation_p.S1523Y|ANK2_ENST00000506722.1_Missense_Mutation_p.S1514Y|ANK2_ENST00000510275.2_Missense_Mutation_p.S175Y|ANK2_ENST00000264366.6_Missense_Mutation_p.S3575Y|ANK2_ENST00000509550.1_Missense_Mutation_p.S699Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3608	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.S3608Y(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AATCCCAACTCTCTTCAAGAC	0.383																																					p.S1523Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4568A	4						.						111.0	109.0	110.0					4																	114284560		2203	4300	6503	114504009	SO:0001583	missense	287	exon39			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10823C>A	4.37:g.114284560C>A	ENSP00000349588:p.Ser3608Tyr		114504009	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857103	0.91433	.	.	ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	D;D;D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37;-3.37;-3.37	5.29	5.29	0.74685	.	0.224693	0.31589	N	0.007393	D	0.96759	0.8942	M	0.78049	2.395	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.998;0.996;0.999;1.0;0.999;0.999	D	0.97083	0.9785	10	0.87932	D	0	.	19.291	0.94100	0.0:1.0:0.0:0.0	.	699;558;524;1523;3608;1514	E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.;.;.;.;.;.	Y	1514;558;1523;3608;3575;1514;699;175;618	ENSP00000421067:S1514Y;ENSP00000378044:S1523Y;ENSP00000349588:S3608Y;ENSP00000264366:S3575Y;ENSP00000426944:S699Y;ENSP00000421023:S175Y;ENSP00000422498:S618Y	ENSP00000264366:S3575Y	S	+	2	0	ANK2	114504009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.426000	0.80270	2.623000	0.88846	0.650000	0.86243	TCT		0.383	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
TRAM1L1	133022	broad.mit.edu	37	4	118005452	118005452	+	Missense_Mutation	SNP	C	C	A	rs201199191		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:118005452C>A	ENST00000310754.4	-	1	1284	c.1098G>T	c.(1096-1098)gaG>gaT	p.E366D		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	366					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E366D(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ATGAAGATTTCTCTTTCCTCT	0.368																																					p.E366D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1098T	4						.						128.0	133.0	131.0					4																	118005452		2203	4300	6503	118224900	SO:0001583	missense	133022	exon1			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1098G>T	4.37:g.118005452C>A	ENSP00000309402:p.Glu366Asp		118224900	NM_152402	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295575	0.23564	.	.	ENSG00000174599	ENST00000310754	T	0.50277	0.75	3.74	0.928	0.19443	.	0.098822	0.64402	N	0.000002	T	0.25938	0.0632	N	0.24115	0.695	0.41499	D	0.988274	B	0.27732	0.187	B	0.28638	0.092	T	0.03761	-1.1006	10	0.17832	T	0.49	-24.9763	4.8833	0.13690	0.0:0.5991:0.1779:0.2231	.	366	Q8N609	TR1L1_HUMAN	D	366	ENSP00000309402:E366D	ENSP00000309402:E366D	E	-	3	2	TRAM1L1	118224900	1.000000	0.71417	0.772000	0.31596	0.830000	0.47004	1.063000	0.30567	0.156000	0.19299	-0.142000	0.14014	GAG		0.368	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402	
SEC24D	9871	broad.mit.edu	37	4	119673856	119673856	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:119673856G>T	ENST00000280551.6	-	12	1847	c.1609C>A	c.(1609-1611)Cat>Aat	p.H537N	SEC24D_ENST00000379735.5_Missense_Mutation_p.H538N|SEC24D_ENST00000429811.2_Missense_Mutation_p.H93N|SEC24D_ENST00000511481.1_Missense_Mutation_p.H168N|SEC24D_ENST00000419654.2_Missense_Mutation_p.H93N|SEC24D_ENST00000505134.1_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	537					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)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|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)	p.H537N(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATTTACTTATGAATCACAGAT	0.343																																					p.H537N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1609A	4						.						56.0	55.0	55.0					4																	119673856		2203	4300	6503	119893304	SO:0001583	missense	9871	exon12			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1609C>A	4.37:g.119673856G>T	ENSP00000280551:p.His537Asn		119893304	NM_014822	Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395516	0.25205	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.3	5.3	0.74995	Sec23/Sec24, trunk domain (1);	0.356481	0.31123	N	0.008205	T	0.48132	0.1483	N	0.02315	-0.6	0.28391	N	0.919095	B;B	0.02656	0.0;0.0	B;B	0.12156	0.0;0.007	T	0.33954	-0.9848	10	0.17832	T	0.49	.	12.1599	0.54098	0.0:0.0:0.7095:0.2905	.	538;537	O94855-2;O94855	.;SC24D_HUMAN	N	537;538;93;168;93	ENSP00000280551:H537N;ENSP00000369059:H538N;ENSP00000409775:H93N;ENSP00000425491:H168N;ENSP00000388324:H93N	ENSP00000280551:H537N	H	-	1	0	SEC24D	119893304	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.823000	0.48081	2.473000	0.83533	0.591000	0.81541	CAT		0.343	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
SEC24D	9871	broad.mit.edu	37	4	119678935	119678935	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:119678935C>A	ENST00000280551.6	-	11	1600	c.1362G>T	c.(1360-1362)aaG>aaT	p.K454N	SEC24D_ENST00000379735.5_Missense_Mutation_p.K455N|SEC24D_ENST00000429811.2_Missense_Mutation_p.K10N|SEC24D_ENST00000511481.1_Missense_Mutation_p.K85N|SEC24D_ENST00000419654.2_Missense_Mutation_p.K10N|SEC24D_ENST00000505134.1_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	454					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)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|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)	p.K454N(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CAAGTCCATTCTTTATGTTAC	0.348																																					p.K454N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1362T	4						.						116.0	111.0	113.0					4																	119678935		2203	4300	6503	119898383	SO:0001583	missense	9871	exon11			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1362G>T	4.37:g.119678935C>A	ENSP00000280551:p.Lys454Asn		119898383	NM_014822	Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	c	16.30	3.085497	0.55861	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.73	5.73	0.89815	Sec23/Sec24, trunk domain (1);	0.045845	0.85682	D	0.000000	T	0.39627	0.1085	L	0.31371	0.925	0.58432	D	0.999993	B;B	0.27192	0.004;0.171	B;B	0.36244	0.025;0.22	T	0.18935	-1.0321	10	0.41790	T	0.15	-26.1812	16.9198	0.86161	0.0:0.8725:0.1275:0.0	.	455;454	O94855-2;O94855	.;SC24D_HUMAN	N	454;455;10;85;10	ENSP00000280551:K454N;ENSP00000369059:K455N;ENSP00000409775:K10N;ENSP00000425491:K85N;ENSP00000388324:K10N	ENSP00000280551:K454N	K	-	3	2	SEC24D	119898383	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.159000	0.31749	2.716000	0.92895	0.450000	0.29827	AAG		0.348	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4		
SYNPO2	171024	broad.mit.edu	37	4	119951558	119951558	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:119951558C>T	ENST00000429713.2	+	4	1810	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	SYNPO2_ENST00000434046.2_Missense_Mutation_p.S543L|SYNPO2_ENST00000307142.4_Missense_Mutation_p.S543L|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	543						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.S543L(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGAAGAGTCGGTAAGAACG	0.517																																					p.S543L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1628T	4						.						71.0	66.0	68.0					4																	119951558		2203	4300	6503	120171006	SO:0001583	missense	171024	exon4			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1628C>T	4.37:g.119951558C>T	ENSP00000395143:p.Ser543Leu		120171006	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	4.151	0.026342	0.08054	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.48522	0.81;0.81;0.81	5.53	3.71	0.42584	.	1.013130	0.07912	N	0.974432	T	0.42086	0.1187	M	0.64997	1.995	0.09310	N	1	D;P;P;P	0.55172	0.97;0.915;0.861;0.861	B;B;B;B	0.37144	0.122;0.242;0.092;0.122	T	0.41662	-0.9496	9	.	.	.	-5.6583	8.6482	0.34018	0.0:0.7088:0.1482:0.143	.	543;543;543;543	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	L	543	ENSP00000306015:S543L;ENSP00000395143:S543L;ENSP00000390965:S543L	.	S	+	2	0	SYNPO2	120171006	0.046000	0.20272	0.005000	0.12908	0.007000	0.05969	1.974000	0.40559	2.584000	0.87258	0.655000	0.94253	TCG		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
SYNPO2	171024	broad.mit.edu	37	4	119952194	119952194	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:119952194C>T	ENST00000429713.2	+	4	2446	c.2264C>T	c.(2263-2265)aCc>aTc	p.T755I	SYNPO2_ENST00000434046.2_Missense_Mutation_p.T755I|SYNPO2_ENST00000307142.4_Missense_Mutation_p.T755I|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	755						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.T755I(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAACAAAAGACCCCTCCTCCT	0.552																																					p.T755I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2264T	4						.						100.0	107.0	105.0					4																	119952194		2203	4300	6503	120171642	SO:0001583	missense	171024	exon4			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2264C>T	4.37:g.119952194C>T	ENSP00000395143:p.Thr755Ile		120171642	NM_133477	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554376	0.27739	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.09538	2.97;2.98;2.97	5.41	5.41	0.78517	.	0.093845	0.47093	D	0.000260	T	0.11665	0.0284	M	0.63843	1.955	0.80722	D	1	B;B;B;B	0.32653	0.261;0.379;0.067;0.142	B;B;B;B	0.28553	0.042;0.091;0.021;0.02	T	0.04255	-1.0965	9	.	.	.	-25.1154	9.8162	0.40853	0.0:0.8476:0.0:0.1524	.	755;755;755;755	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	I	755	ENSP00000306015:T755I;ENSP00000395143:T755I;ENSP00000390965:T755I	.	T	+	2	0	SYNPO2	120171642	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.656000	0.37355	2.552000	0.86080	0.655000	0.94253	ACC		0.552	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1		
USP53	54532	broad.mit.edu	37	4	120192649	120192649	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:120192649A>C	ENST00000274030.6	+	16	2813	c.1634A>C	c.(1633-1635)aAa>aCa	p.K545T	USP53_ENST00000450251.1_Missense_Mutation_p.K545T	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53									p.K544T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						CCAGGAGAGAAAATAACTGGC	0.418																																					p.K545T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1634C	4						.						88.0	88.0	88.0					4																	120192649		1877	4113	5990	120412097	SO:0001583	missense	54532	exon15			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1634A>C	4.37:g.120192649A>C	ENSP00000274030:p.Lys545Thr		120412097	NM_019050		Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	12.42	1.931914	0.34096	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.24151	1.87;1.87	5.7	3.32	0.38043	.	0.448344	0.25022	N	0.033760	T	0.36524	0.0970	M	0.62723	1.935	0.27314	N	0.957238	D	0.63880	0.993	P	0.56343	0.796	T	0.11012	-1.0605	10	0.37606	T	0.19	-16.1069	8.3849	0.32494	0.8479:0.0:0.1521:0.0	.	545	Q70EK8	UBP53_HUMAN	T	545	ENSP00000274030:K545T;ENSP00000409906:K545T	ENSP00000274030:K545T	K	+	2	0	USP53	120412097	0.230000	0.23740	0.779000	0.31741	0.124000	0.20399	0.867000	0.27968	0.990000	0.38787	0.528000	0.53228	AAA		0.418	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597	
PRDM5	11107	broad.mit.edu	37	4	121719454	121719454	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:121719454C>T	ENST00000264808.3	-	10	1396	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	PRDM5_ENST00000428209.2_Missense_Mutation_p.A355T|PRDM5_ENST00000515109.1_Missense_Mutation_p.A355T	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	386					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A386T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTTCTGTGGGCAAATCCCTTT	0.303																																					p.A386T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1156A	4						.						47.0	44.0	45.0					4																	121719454		2202	4299	6501	121938904	SO:0001583	missense	11107	exon10			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1156G>A	4.37:g.121719454C>T	ENSP00000264808:p.Ala386Thr		121938904	NM_018699	Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.924265	0.73213	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.36699	1.24;3.14;1.24	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	N	0.02412	-0.56	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.85130	0.997;0.926;0.997	T	0.50857	-0.8778	10	0.21014	T	0.42	-16.852	19.7112	0.96096	0.0:1.0:0.0:0.0	.	355;355;386	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	T	386;355;355	ENSP00000264808:A386T;ENSP00000422309:A355T;ENSP00000404832:A355T	ENSP00000264808:A386T	A	-	1	0	PRDM5	121938904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.722000	0.93159	0.655000	0.94253	GCC		0.303	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2		
PRDM5	11107	broad.mit.edu	37	4	121739566	121739566	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:121739566C>A	ENST00000264808.3	-	5	832	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	PRDM5_ENST00000428209.2_Nonsense_Mutation_p.E198*|PRDM5_ENST00000515109.1_Nonsense_Mutation_p.E198*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	198					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.E198*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CACTTAAATTCTTTCTCCTCT	0.388																																					p.E198X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G592T	4						.						89.0	86.0	87.0					4																	121739566		2203	4300	6503	121959016	SO:0001587	stop_gained	11107	exon5			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.592G>T	4.37:g.121739566C>A	ENSP00000264808:p.Glu198*		121959016	NM_018699	Q0VAI9|Q0VAJ0|Q6NXQ7	Nonsense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	39	7.296317	0.98192	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	.	.	.	5.32	5.32	0.75619	.	0.049067	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.6551	19.0126	0.92879	0.0:1.0:0.0:0.0	.	.	.	.	X	198	.	ENSP00000264808:E198X	E	-	1	0	PRDM5	121959016	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.412000	0.80091	2.498000	0.84270	0.555000	0.69702	GAA		0.388	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2		
TNIP3	79931	broad.mit.edu	37	4	122075754	122075754	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:122075754C>T	ENST00000509841.1	-	8	753	c.675G>A	c.(673-675)gcG>gcA	p.A225A	TNIP3_ENST00000454328.1_Silent_p.A148A|TNIP3_ENST00000507879.1_Silent_p.A218A|TNIP3_ENST00000057513.3_Silent_p.A148A	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.A148A(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTTCCTTGTTCGCAAGAGTAT	0.343																																					p.A148A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G444A	4						.						170.0	156.0	161.0					4																	122075754		2203	4299	6502	122295204	SO:0001819	synonymous_variant	79931	exon7			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.675G>A	4.37:g.122075754C>T			122295204	NM_001128843		Silent	SNP	ENST00000509841.1	37	CCDS58926.1																																																																																				0.343	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873	
KIAA1109	84162	broad.mit.edu	37	4	123168391	123168391	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:123168391G>T	ENST00000264501.4	+	35	5764	c.5391G>T	c.(5389-5391)aaG>aaT	p.K1797N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.K1797N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.K1797N			Q2LD37	K1109_HUMAN	KIAA1109	1797					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K1797N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGCCACAAAGATGCAGCCTC	0.393																																					p.K1797N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5391T	4						.						90.0	85.0	87.0					4																	123168391		1890	4125	6015	123387841	SO:0001583	missense	84162	exon33			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5391G>T	4.37:g.123168391G>T	ENSP00000264501:p.Lys1797Asn		123387841	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.59|19.59	3.856779|3.856779	0.71834|0.71834	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.25912|.	2.35;2.35;1.77|.	5.77|5.77	3.8|3.8	0.43715|0.43715	.|.	0.000000|.	0.45361|.	U|.	0.000363|.	T|T	0.37919|0.37919	0.1021|0.1021	N|N	0.24115|0.24115	0.695|0.695	0.40900|0.40900	D|D	0.984144|0.984144	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.80764|.	0.994;0.991|.	T|T	0.20042|0.20042	-1.0287|-1.0287	10|5	0.72032|.	D|.	0.01|.	.|.	4.272|4.272	0.10791|0.10791	0.4492:0.0:0.5508:0.0|0.4492:0.0:0.5508:0.0	.|.	1796;1797|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	N|I	1797|370	ENSP00000264501:K1797N;ENSP00000373390:K1797N;ENSP00000389925:K1797N|.	ENSP00000264501:K1797N|.	K|R	+|+	3|2	2|0	KIAA1109|KIAA1109	123387841|123387841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.004000|3.004000	0.49513|0.49513	1.449000|1.449000	0.47699|0.47699	0.585000|0.585000	0.79938|0.79938	AAG|AGA		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
KIAA1109	84162	broad.mit.edu	37	4	123270676	123270676	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:123270676C>T	ENST00000264501.4	+	79	13883	c.13510C>T	c.(13510-13512)Cgt>Tgt	p.R4504C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4504C			Q2LD37	K1109_HUMAN	KIAA1109	4504					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R4504C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACTGAAGCTCGTGTTGATTA	0.353																																					p.R4504C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C13510T	4						.						70.0	65.0	66.0					4																	123270676		1832	4090	5922	123490126	SO:0001583	missense	84162	exon77			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13510C>T	4.37:g.123270676C>T	ENSP00000264501:p.Arg4504Cys		123490126	NM_015312	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193036	0.78902	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.51574	0.7;0.7;0.7	5.84	4.98	0.66077	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.73026	-0.4112	10	0.87932	D	0	.	16.11	0.81255	0.1348:0.8652:0.0:0.0	.	4503;4504	Q2LD37-4;Q2LD37	.;K1109_HUMAN	C	4504;4504;1173;105	ENSP00000264501:R4504C;ENSP00000373390:R4504C;ENSP00000410874:R1173C	ENSP00000264501:R4504C	R	+	1	0	KIAA1109	123490126	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	6.042000	0.70996	1.427000	0.47276	0.655000	0.94253	CGT		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
ADAD1	132612	broad.mit.edu	37	4	123301310	123301310	+	Missense_Mutation	SNP	C	C	T	rs13106730		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:123301310C>T	ENST00000296513.2	+	3	271	c.86C>T	c.(85-87)gCg>gTg	p.A29V	ADAD1_ENST00000388725.2_Missense_Mutation_p.A11V|ADAD1_ENST00000388724.2_Missense_Mutation_p.A29V	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	29					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.A29V(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTCAACCAGCGACAAAGACG	0.488																																					p.A29V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C86T	4						.						98.0	83.0	88.0					4																	123301310		2203	4300	6503	123520760	SO:0001583	missense	132612	exon3			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.86C>T	4.37:g.123301310C>T	ENSP00000296513:p.Ala29Val		123520760	NM_139243	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669381	0.29693	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.29917	1.55;1.55;1.55	5.12	4.28	0.50868	.	0.561820	0.16738	N	0.201567	T	0.14527	0.0351	N	0.04508	-0.205	0.09310	N	1	B;B	0.25563	0.129;0.007	B;B	0.18561	0.022;0.001	T	0.16778	-1.0391	10	0.30854	T	0.27	0.3858	11.2074	0.48778	0.0:0.9105:0.0:0.0895	.	29;29	Q96M93-2;Q96M93	.;ADAD1_HUMAN	V	29;29;29;29;11	ENSP00000296513:A29V;ENSP00000373376:A29V;ENSP00000373377:A11V	ENSP00000296513:A29V	A	+	2	0	ADAD1	123520760	0.003000	0.15002	0.002000	0.10522	0.021000	0.10359	1.686000	0.37669	1.155000	0.42497	0.555000	0.69702	GCG		0.488	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243	
SPATA5	166378	broad.mit.edu	37	4	123854609	123854609	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:123854609A>C	ENST00000274008.4	+	4	531	c.462A>C	c.(460-462)gaA>gaC	p.E154D	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	154					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.E154D(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAGATATGGAAATTAATGAAG	0.323																																					p.E154D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A462C	4						.						87.0	86.0	87.0					4																	123854609		2203	4298	6501	124074059	SO:0001583	missense	166378	exon4			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.462A>C	4.37:g.123854609A>C	ENSP00000274008:p.Glu154Asp		124074059	NM_145207	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	A	4.922	0.171394	0.09391	.	.	ENSG00000145375	ENST00000274008	D	0.94184	-3.37	5.03	-4.72	0.03269	.	0.648521	0.17049	N	0.188984	T	0.72969	0.3527	N	0.01705	-0.755	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.67703	-0.5602	10	0.25106	T	0.35	-40.3137	1.3808	0.02230	0.2233:0.3106:0.0995:0.3667	.	154;154	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	D	154	ENSP00000274008:E154D	ENSP00000274008:E154D	E	+	3	2	SPATA5	124074059	0.002000	0.14202	0.393000	0.26258	0.927000	0.56198	-0.816000	0.04477	-0.417000	0.07461	-0.331000	0.08364	GAA		0.323	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207	
ANKRD50	57182	broad.mit.edu	37	4	125590864	125590864	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:125590864A>C	ENST00000504087.1	-	4	4605	c.3568T>G	c.(3568-3570)Tca>Gca	p.S1190A	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1011A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1190	Ser-rich.							p.S1190A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTCAAAGATGAATTTTTTGAG	0.383																																					p.S1011A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3031G	4						.						91.0	93.0	92.0					4																	125590864		2203	4300	6503	125810314	SO:0001583	missense	57182	exon3			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3568T>G	4.37:g.125590864A>C	ENSP00000425658:p.Ser1190Ala		125810314	NM_001167882	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236057	0.58886	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.70045	-0.45;-0.43	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	N	0.19112	0.55	0.58432	D	0.99999	P	0.52842	0.956	D	0.65010	0.931	T	0.64786	-0.6325	10	0.22109	T	0.4	.	15.3955	0.74790	1.0:0.0:0.0:0.0	.	1190	Q9ULJ7	ANR50_HUMAN	A	1190;1011	ENSP00000425658:S1190A;ENSP00000425355:S1011A	ENSP00000425658:S1190A	S	-	1	0	ANKRD50	125810314	1.000000	0.71417	0.930000	0.37139	0.998000	0.95712	8.571000	0.90752	2.225000	0.72522	0.459000	0.35465	TCA		0.383	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
FAT4	79633	broad.mit.edu	37	4	126242577	126242577	+	Missense_Mutation	SNP	C	C	T	rs373116363		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:126242577C>T	ENST00000394329.3	+	1	5024	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1671	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1671C(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTTTCAGTTCGTTGTGAAGA	0.463																																					p.R1671C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5011T	4						.	C	CYS/ARG	1,3707		0,1,1853	100.0	97.0	98.0		5011	4.3	1.0	4		98	0,8186		0,0,4093	no	missense	FAT4	NM_024582.4	180	0,1,5946	TT,TC,CC		0.0,0.027,0.0084	probably-damaging	1671/4982	126242577	1,11893	1854	4093	5947	126462027	SO:0001583	missense	79633	exon1			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5011C>T	4.37:g.126242577C>T	ENSP00000377862:p.Arg1671Cys		126462027	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041832	0.55003	2.7E-4	0.0	ENSG00000196159	ENST00000394329	T	0.74421	-0.84	4.35	4.35	0.52113	Cadherin (3);Cadherin-like (1);	0.000000	0.34110	U	0.004249	T	0.68869	0.3048	L	0.43923	1.385	0.80722	D	1	D	0.61697	0.99	P	0.45474	0.482	T	0.72530	-0.4265	10	0.54805	T	0.06	.	12.2333	0.54500	0.1699:0.8301:0.0:0.0	.	1671	Q6V0I7	FAT4_HUMAN	C	1671	ENSP00000377862:R1671C	ENSP00000377862:R1671C	R	+	1	0	FAT4	126462027	1.000000	0.71417	0.976000	0.42696	0.740000	0.42216	5.581000	0.67471	2.268000	0.75426	0.655000	0.94253	CGT		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126336757	126336757	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:126336757C>T	ENST00000394329.3	+	5	6652	c.6639C>T	c.(6637-6639)gtC>gtT	p.V2213V	FAT4_ENST00000335110.5_Silent_p.V511V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2213	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2213V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCATCACTGTCGCTAAACCTT	0.468																																					p.V2213V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6639T	4						.						136.0	129.0	131.0					4																	126336757		2203	4300	6503	126556207	SO:0001819	synonymous_variant	79633	exon5			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6639C>T	4.37:g.126336757C>T			126556207	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.468	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126370341	126370341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:126370341G>T	ENST00000394329.3	+	9	8183	c.8170G>T	c.(8170-8172)Gaa>Taa	p.E2724*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E1022*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2724	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E2724*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCTACTGGTGAAATTAGAAG	0.398																																					p.E2724X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G8170T	4						.						80.0	79.0	79.0					4																	126370341		2202	4299	6501	126589791	SO:0001587	stop_gained	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8170G>T	4.37:g.126370341G>T	ENSP00000377862:p.Glu2724*		126589791	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	50	16.165037	0.99856	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.9	5.9	0.94986	.	0.000000	0.34777	U	0.003699	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	.	.	.	X	2724;1022	.	ENSP00000335169:E1022X	E	+	1	0	FAT4	126589791	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.766000	0.85320	2.788000	0.95919	0.650000	0.86243	GAA		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
FAT4	79633	broad.mit.edu	37	4	126371438	126371438	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:126371438C>T	ENST00000394329.3	+	9	9280	c.9267C>T	c.(9265-9267)ttC>ttT	p.F3089F	FAT4_ENST00000335110.5_Silent_p.F1387F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3089	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F3089F(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACCTGAATTCTCTCAAAGCC	0.453																																					p.F3089F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C9267T	4						.						87.0	83.0	84.0					4																	126371438		2203	4300	6503	126590888	SO:0001819	synonymous_variant	79633	exon9			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9267C>T	4.37:g.126371438C>T			126590888	NM_024582	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
INTU	27152	broad.mit.edu	37	4	128564985	128564985	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:128564985C>A	ENST00000335251.6	+	2	559	c.456C>A	c.(454-456)gtC>gtA	p.V152V	INTU_ENST00000296461.5_Silent_p.V152V	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	152					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.V152V(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGACAGGAGTCATTGTCCAAC	0.403																																					p.V152V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C456A	4						.						90.0	89.0	90.0					4																	128564985		2203	4300	6503	128784435	SO:0001819	synonymous_variant	27152	exon2			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.456C>A	4.37:g.128564985C>A			128784435	NM_015693	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	CCDS34061.1																																																																																				0.403	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
INTU	27152	broad.mit.edu	37	4	128632225	128632225	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:128632225C>T	ENST00000335251.6	+	14	2630	c.2527C>T	c.(2527-2529)Cgt>Tgt	p.R843C		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	843					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)		p.R843C(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTTTCCATTCGTGCAGTTTT	0.413																																					p.R843C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2527T	4						.						137.0	120.0	126.0					4																	128632225		2203	4300	6503	128851675	SO:0001583	missense	27152	exon14			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2527C>T	4.37:g.128632225C>T	ENSP00000334003:p.Arg843Cys		128851675	NM_015693	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375590	0.61735	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.44	4.57	0.56435	.	0.057039	0.64402	D	0.000001	T	0.77844	0.4191	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.81202	-0.1040	9	0.87932	D	0	-15.7144	15.4628	0.75373	0.1395:0.8605:0.0:0.0	.	843	Q9ULD6	PDZD6_HUMAN	C	843	.	ENSP00000334003:R843C	R	+	1	0	INTU	128851675	1.000000	0.71417	0.968000	0.41197	0.519000	0.34347	5.468000	0.66743	1.468000	0.48064	0.655000	0.94253	CGT		0.413	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
SLC25A31	83447	broad.mit.edu	37	4	128688341	128688341	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:128688341G>A	ENST00000281154.4	+	4	767	c.599G>A	c.(598-600)cGa>cAa	p.R200Q		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	200					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R200Q(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						ATTGTGTACCGAGCCTCTTAT	0.353																																					p.R200Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G599A	4						.						180.0	177.0	178.0					4																	128688341		2203	4300	6503	128907791	SO:0001583	missense	83447	exon4			AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.599G>A	4.37:g.128688341G>A	ENSP00000281154:p.Arg200Gln		128907791	NM_031291		Missense_Mutation	SNP	ENST00000281154.4	37	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	G	35	5.571808	0.96553	.	.	ENSG00000151475	ENST00000281154	T	0.78246	-1.16	5.18	5.18	0.71444	Mitochondrial carrier domain (2);	0.000000	0.43416	D	0.000571	D	0.86543	0.5958	M	0.77486	2.375	0.49483	D	0.999798	D	0.76494	0.999	P	0.58820	0.846	D	0.88223	0.2898	10	0.87932	D	0	-17.1226	17.6095	0.88048	0.0:0.0:1.0:0.0	.	200	Q9H0C2	ADT4_HUMAN	Q	200	ENSP00000281154:R200Q	ENSP00000281154:R200Q	R	+	2	0	SLC25A31	128907791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.080000	0.76837	2.689000	0.91719	0.591000	0.81541	CGA		0.353	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291	
PLK4	10733	broad.mit.edu	37	4	128802990	128802990	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:128802990T>G	ENST00000270861.5	+	2	309	c.35T>G	c.(34-36)tTt>tGt	p.F12C	PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000515069.1_Missense_Mutation_p.F12C|PLK4_ENST00000507249.1_Missense_Mutation_p.F12C|PLK4_ENST00000513090.1_Missense_Mutation_p.F12C|PLK4_ENST00000514379.1_5'UTR	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	12	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F12C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TTTAAGGATTTTAAAGTTGGA	0.378																																					p.F12C	Colon(135;508 1718 19061 31832 42879)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T35G	4						.						67.0	68.0	68.0					4																	128802990		2203	4300	6503	129022440	SO:0001583	missense	10733	exon2			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.35T>G	4.37:g.128802990T>G	ENSP00000270861:p.Phe12Cys		129022440	NM_001190799	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	ENST00000270861.5	37	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114360	0.77210	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	3.97	3.97	0.46021	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73049	-0.4105	10	0.87932	D	0	-10.1978	13.3479	0.60584	0.0:0.0:0.0:1.0	.	12;12	O00444-2;O00444	.;PLK4_HUMAN	C	12	ENSP00000270861:F12C;ENSP00000421774:F12C;ENSP00000427554:F12C;ENSP00000423412:F12C	ENSP00000270861:F12C	F	+	2	0	PLK4	129022440	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.140000	0.77322	1.796000	0.52611	0.459000	0.35465	TTT		0.378	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3		
JADE1	79960	broad.mit.edu	37	4	129793345	129793345	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:129793345G>T	ENST00000226319.6	+	11	2737	c.2457G>T	c.(2455-2457)aaG>aaT	p.K819N	PHF17_ENST00000452328.2_Missense_Mutation_p.K807N|PHF17_ENST00000512960.1_Missense_Mutation_p.K819N	NM_199320.2	NP_955352.1												p.K819N(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CATCAGAAAAGAAATGTATAC	0.448																																					p.K819N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2457T	4						.						71.0	64.0	66.0					4																	129793345		2203	4300	6503	130012795	SO:0001583	missense	79960	exon11																														ENST00000226319.6:c.2457G>T	4.37:g.129793345G>T	ENSP00000226319:p.Lys819Asn		130012795	NM_199320		Missense_Mutation	SNP	ENST00000226319.6	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169390	0.21621	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960	T;T;T	0.49720	0.77;0.79;0.77	4.77	1.96	0.26148	.	0.283234	0.33401	N	0.004949	T	0.33030	0.0849	L	0.32530	0.975	0.58432	D	0.999998	P;P	0.40731	0.728;0.608	B;B	0.38803	0.282;0.146	T	0.03240	-1.1057	9	.	.	.	.	9.881	0.41233	0.3606:0.0:0.6394:0.0	.	807;819	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	N	819;807;819	ENSP00000226319:K819N;ENSP00000388015:K807N;ENSP00000425730:K819N	.	K	+	3	2	PHF17	130012795	1.000000	0.71417	0.230000	0.23976	0.220000	0.24768	1.930000	0.40124	0.268000	0.21939	-0.312000	0.09012	AAG		0.448	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1		
PCDH18	54510	broad.mit.edu	37	4	138442405	138442405	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:138442405A>G	ENST00000344876.4	-	4	3572	c.3186T>C	c.(3184-3186)ttT>ttC	p.F1062F	PCDH18_ENST00000510305.1_Silent_p.F273F|PCDH18_ENST00000511115.1_Silent_p.F242F|PCDH18_ENST00000412923.2_Silent_p.F1061F|PCDH18_ENST00000507846.1_Silent_p.F841F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1062	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F1062F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGGATTTTGAAAATGCGTAC	0.567																																					p.F1062F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3186C	4						.						43.0	41.0	42.0					4																	138442405		2203	4300	6503	138661855	SO:0001819	synonymous_variant	54510	exon4			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3186T>C	4.37:g.138442405A>G			138661855	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																				0.567	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	broad.mit.edu	37	4	138451823	138451823	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:138451823T>A	ENST00000344876.4	-	1	1806	c.1420A>T	c.(1420-1422)Att>Ttt	p.I474F	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.I474F|PCDH18_ENST00000507846.1_Missense_Mutation_p.I254F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	474	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I474F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTTTCTGAAATTACAAATTCA	0.423																																					p.I474F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1420T	4						.						126.0	125.0	125.0					4																	138451823		2203	4300	6503	138671273	SO:0001583	missense	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1420A>T	4.37:g.138451823T>A	ENSP00000355082:p.Ile474Phe		138671273	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.382169	0.42207	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55588	0.51;0.51;0.51	5.93	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.000000	0.44097	D	0.000492	T	0.60183	0.2249	L	0.52364	1.645	0.80722	D	1	P;B;D	0.62365	0.942;0.082;0.991	P;B;P	0.57620	0.672;0.036;0.824	T	0.63800	-0.6555	10	0.87932	D	0	.	11.4658	0.50239	0.0:0.0696:0.0:0.9303	.	254;474;474	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	F	474;474;254	ENSP00000355082:I474F;ENSP00000390688:I474F;ENSP00000425903:I254F	ENSP00000355082:I474F	I	-	1	0	PCDH18	138671273	1.000000	0.71417	0.920000	0.36463	0.919000	0.55068	4.031000	0.57267	2.261000	0.74972	0.460000	0.39030	ATT		0.423	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
PCDH18	54510	broad.mit.edu	37	4	138452691	138452691	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:138452691G>A	ENST00000344876.4	-	1	938	c.552C>T	c.(550-552)atC>atT	p.I184I	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Silent_p.I184I|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	184	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I184I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCGAACCTCGATATTAAAAA	0.488																																					p.I184I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	4						.						58.0	57.0	57.0					4																	138452691		2203	4300	6503	138672141	SO:0001819	synonymous_variant	54510	exon1			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.552C>T	4.37:g.138452691G>A			138672141	NM_019035	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																				0.488	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
NAA15	80155	broad.mit.edu	37	4	140299913	140299913	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:140299913A>C	ENST00000296543.5	+	17	2383	c.2060A>C	c.(2059-2061)aAg>aCg	p.K687T	NAA15_ENST00000398947.1_Missense_Mutation_p.K687T	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	687	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.K687T(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTATAGAAAAGTTTCTTTTG	0.348																																					p.K687T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2060C	4						.						130.0	112.0	118.0					4																	140299913		1793	4069	5862	140519363	SO:0001583	missense	80155	exon17			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2060A>C	4.37:g.140299913A>C	ENSP00000296543:p.Lys687Thr		140519363	NM_057175	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.512342	0.85389	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.53206	0.63;0.63	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.89534	3.04	0.80722	D	1	D	0.56746	0.977	D	0.67382	0.951	T	0.79715	-0.1687	10	0.66056	D	0.02	-16.1688	16.2127	0.82178	1.0:0.0:0.0:0.0	.	687	Q9BXJ9	NAA15_HUMAN	T	687;561;687	ENSP00000296543:K687T;ENSP00000381920:K687T	ENSP00000296543:K687T	K	+	2	0	NAA15	140519363	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.730000	0.91510	2.236000	0.73375	0.533000	0.62120	AAG		0.348	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175	
RNF150	57484	broad.mit.edu	37	4	141870498	141870498	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:141870498G>A	ENST00000515673.2	-	3	797	c.764C>T	c.(763-765)gCc>gTc	p.A255V	RNF150_ENST00000420921.2_Missense_Mutation_p.A114V|RNF150_ENST00000306799.3_Missense_Mutation_p.A213V|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Missense_Mutation_p.A255V|RNF150_ENST00000379512.2_Missense_Mutation_p.A114V			Q9ULK6	RN150_HUMAN	ring finger protein 150	255						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A255V(1)|p.A164V(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTTGCTGATGGCTTTCTTTGC	0.398																																					p.A255V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C764T	4						.						145.0	139.0	141.0					4																	141870498		2203	4300	6503	142089948	SO:0001583	missense	57484	exon3			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.764C>T	4.37:g.141870498G>A	ENSP00000425840:p.Ala255Val		142089948	NM_020724	Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472492	0.96274	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.19394	2.15;2.15;2.23;3.16;3.17;2.24	6.17	6.17	0.99709	.	0.118750	0.56097	D	0.000023	T	0.46425	0.1392	M	0.73217	2.22	0.80722	D	1	D;P;P	0.54397	0.966;0.92;0.887	D;P;P	0.63033	0.91;0.73;0.685	T	0.06427	-1.0827	10	0.40728	T	0.16	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	213;255;255	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	V	114;114;213;255;255;86	ENSP00000368827:A114V;ENSP00000394581:A114V;ENSP00000304321:A213V;ENSP00000425840:A255V;ENSP00000425568:A255V;ENSP00000425947:A86V	ENSP00000304321:A213V	A	-	2	0	RNF150	142089948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.765000	0.91724	2.941000	0.99782	0.655000	0.94253	GCC		0.398	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
INPP4B	8821	broad.mit.edu	37	4	142950021	142950021	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:142950021T>G	ENST00000513000.1	-	27	3122	c.2689A>C	c.(2689-2691)Aag>Cag	p.K897Q	INPP4B_ENST00000508116.1_Missense_Mutation_p.K897Q|INPP4B_ENST00000262992.4_Missense_Mutation_p.K897Q|INPP4B_ENST00000308502.4_Missense_Mutation_p.K897Q	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	897					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.K897Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AAAGCATACTTTCTGCATTTG	0.403																																					p.K897Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2689C	4						.						154.0	137.0	143.0					4																	142950021		2203	4300	6503	143169471	SO:0001583	missense	8821	exon27			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2689A>C	4.37:g.142950021T>G	ENSP00000425487:p.Lys897Gln		143169471	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609087	0.66558	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.58	5.58	0.84498	.	0.452102	0.22545	N	0.058661	T	0.30448	0.0765	L	0.50333	1.59	0.58432	D	0.99999	P	0.44478	0.836	B	0.44085	0.44	T	0.02275	-1.1184	10	0.36615	T	0.2	.	15.7451	0.77932	0.0:0.0:0.0:1.0	.	897	O15327	INP4B_HUMAN	Q	897	ENSP00000425487:K897Q;ENSP00000262992:K897Q;ENSP00000308441:K897Q;ENSP00000423954:K897Q	ENSP00000262992:K897Q	K	-	1	0	INPP4B	143169471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.994000	0.88315	2.134000	0.65973	0.477000	0.44152	AAG		0.403	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
USP38	84640	broad.mit.edu	37	4	144135300	144135300	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:144135300A>G	ENST00000307017.4	+	9	2677	c.2171A>G	c.(2170-2172)tAt>tGt	p.Y724C	USP38_ENST00000510377.1_Missense_Mutation_p.Y724C	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	724	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.Y724C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TTACTAAATTATTTTTTGGCT	0.373																																					p.Y724C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2171G	4						.						35.0	38.0	37.0					4																	144135300		2202	4297	6499	144354750	SO:0001583	missense	84640	exon9			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.2171A>G	4.37:g.144135300A>G	ENSP00000303434:p.Tyr724Cys		144354750	NM_032557	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667689	0.67814	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.74106	-0.81;-0.81	5.78	5.78	0.91487	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.82554	0.5062	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	0.987;1.0	P;D	0.91635	0.81;0.999	T	0.83192	-0.0083	10	0.52906	T	0.07	-15.651	16.1082	0.81241	1.0:0.0:0.0:0.0	.	724;724	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	C	724	ENSP00000427647:Y724C;ENSP00000303434:Y724C	ENSP00000303434:Y724C	Y	+	2	0	USP38	144354750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.108000	0.94275	2.205000	0.71048	0.482000	0.46254	TAT		0.373	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557	
GAB1	2549	broad.mit.edu	37	4	144390263	144390263	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:144390263C>A	ENST00000262994.4	+	10	2308	c.2006C>A	c.(2005-2007)gCt>gAt	p.A669D	GAB1_ENST00000505913.1_Missense_Mutation_p.A566D|GAB1_ENST00000262995.4_Missense_Mutation_p.A699D	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	669					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.A699D(1)		breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AAGACCTTGGCTCTAAAGAGT	0.453																																					p.A699D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2096A	4						.						133.0	127.0	129.0					4																	144390263		2203	4300	6503	144609713	SO:0001583	missense	2549	exon11			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.2006C>A	4.37:g.144390263C>A	ENSP00000262994:p.Ala669Asp		144609713	NM_207123	A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456509	0.84317	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.15952	2.38;2.38;2.38	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.52238	-0.8602	10	0.87932	D	0	-23.4472	20.6593	0.99626	0.0:1.0:0.0:0.0	.	669;699	Q13480;Q13480-2	GAB1_HUMAN;.	D	699;669;566	ENSP00000262995:A699D;ENSP00000262994:A669D;ENSP00000424554:A566D	ENSP00000262994:A669D	A	+	2	0	GAB1	144609713	1.000000	0.71417	0.991000	0.47740	0.824000	0.46624	7.415000	0.80131	2.885000	0.99019	0.655000	0.94253	GCT		0.453	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1	NM_002039	
SMARCA5	8467	broad.mit.edu	37	4	144442706	144442706	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:144442706G>A	ENST00000283131.3	+	3	839	c.377G>A	c.(376-378)cGa>cAa	p.R126Q		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	126					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.R126Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GGGCGCCCACGAATAAAAAAA	0.383																																					p.R126Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377A	4						.						47.0	48.0	47.0					4																	144442706		2203	4300	6503	144662156	SO:0001583	missense	8467	exon3			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.377G>A	4.37:g.144442706G>A	ENSP00000283131:p.Arg126Gln		144662156	NM_003601		Missense_Mutation	SNP	ENST00000283131.3	37	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033208	0.75504	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.90788	-2.73	5.59	4.73	0.59995	.	0.150760	0.44285	D	0.000467	D	0.87466	0.6184	L	0.51422	1.61	0.49213	D	0.999765	B	0.25809	0.135	B	0.20955	0.032	D	0.83805	0.0238	10	0.25106	T	0.35	-6.8808	16.6342	0.85042	0.0:0.1302:0.8698:0.0	.	126	O60264	SMCA5_HUMAN	Q	126;69;69	ENSP00000283131:R126Q	ENSP00000283131:R126Q	R	+	2	0	SMARCA5	144662156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.793000	0.85851	1.460000	0.47911	0.655000	0.94253	CGA		0.383	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
ZNF718	255403	broad.mit.edu	37	4	155383	155383	+	lincRNA	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:155383G>T	ENST00000510175.1	+	0	818							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GAACATAAGAGAATTCATGCT	0.368																																					p.R303I												.	.	0			c.G908T	4						.						32.0	37.0	35.0					4																	155383		2104	4249	6353	145383			255403	exon4			AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155383G>T			145383	NM_001039127	Q3SXZ4|Q3SXZ5	Nonsense_Mutation	SNP	ENST00000510175.1	37																																																																																					0.368	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127	
ZNF718	255403	broad.mit.edu	37	4	155819	155819	+	lincRNA	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:155819T>C	ENST00000510175.1	+	0	1254							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ACACTGTAGATAAACCCTACA	0.353																																					p.D448D												.	.	0			c.T1344C	4						.						30.0	33.0	32.0					4																	155819		2058	4234	6292	145819			255403	exon4			AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155819T>C			145819	NM_001039127	Q3SXZ4|Q3SXZ5	Silent	SNP	ENST00000510175.1	37																																																																																					0.353	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127	
GYPB	2994	broad.mit.edu	37	4	145039877	145039877	+	Intron	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:145039877G>T	ENST00000283126.7	-	1	93				GYPA_ENST00000512789.1_Missense_Mutation_p.F22L|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000360771.4_Missense_Mutation_p.F87L|GYPA_ENST00000324022.10_Missense_Mutation_p.F54L|GYPA_ENST00000535709.1_Missense_Mutation_p.F61L|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000504786.1_Missense_Mutation_p.F55L|RP11-673E1.4_ENST00000506982.1_RNA			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.F87L(1)		breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					CTGGTTCAGAGAAATGATGGG	0.308																																					p.F87L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C261A	4						.						109.0	109.0	109.0					4																	145039877		2203	4300	6503	145259327	SO:0001627	intron_variant	2993	exon4				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21874C>A	4.37:g.145039877G>T			145259327	NM_002099	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37		.	.	.	.	.	.	.	.	.	.	G	10.57	1.388474	0.25118	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512789;ENST00000504786;ENST00000394119	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	3.94	-1.25	0.09405	.	0.171154	0.28241	N	0.016068	T	0.28167	0.0695	L	0.61036	1.89	0.80722	D	1	P;B;P;B;P	0.42735	0.561;0.23;0.561;0.04;0.788	B;B;B;B;B	0.42771	0.207;0.207;0.397;0.058;0.35	T	0.06110	-1.0845	10	0.87932	D	0	-10.3262	6.153	0.20322	0.2082:0.5101:0.2818:0.0	.	54;22;55;87;87	B8Q185;Q13030;E7EQF3;P02724;Q16336	.;.;.;GLPA_HUMAN;.	L	87;54;61;22;55;55	ENSP00000354003:F87L;ENSP00000324483:F54L;ENSP00000445398:F61L;ENSP00000425193:F22L;ENSP00000425549:F55L	ENSP00000324483:F54L	F	-	3	2	GYPA	145259327	0.250000	0.23951	0.015000	0.15790	0.010000	0.07245	-0.354000	0.07681	-0.297000	0.08934	0.591000	0.81541	TTC		0.308	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100	
OTUD4	54726	broad.mit.edu	37	4	146065474	146065474	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:146065474C>T	ENST00000447906.2	-	15	1722	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	OTUD4_ENST00000454497.2_Missense_Mutation_p.R447Q|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	512					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.R446Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TTTGTCTTTTCGTTCTTCTGT	0.383																																					p.R447Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1340A	4						.						261.0	248.0	252.0					4																	146065474		2203	4300	6503	146284924	SO:0001583	missense	54726	exon15				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1535G>A	4.37:g.146065474C>T	ENSP00000395487:p.Arg512Gln		146284924	NM_001102653	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37		.	.	.	.	.	.	.	.	.	.	C	9.098	1.003304	0.19121	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.29655	1.56;1.56	5.45	4.6	0.57074	.	0.118236	0.37623	N	0.002003	T	0.11196	0.0273	N	0.11201	0.11	0.80722	D	1	B;B	0.30236	0.274;0.18	B;B	0.16722	0.016;0.007	T	0.15492	-1.0435	10	0.06891	T	0.86	-11.3954	6.4414	0.21851	0.0:0.8008:0.0:0.1992	.	512;511	G3V0I6;Q01804	.;OTUD4_HUMAN	Q	447;512	ENSP00000409279:R447Q;ENSP00000395487:R512Q	ENSP00000395487:R512Q	R	-	2	0	OTUD4	146284924	0.992000	0.36948	0.997000	0.53966	0.946000	0.59487	1.264000	0.33015	2.539000	0.85634	0.557000	0.71058	CGA		0.383	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493	
MMAA	166785	broad.mit.edu	37	4	146575224	146575224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:146575224C>T	ENST00000281317.5	+	6	2108	c.898C>T	c.(898-900)Cga>Tga	p.R300*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.R19*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	300					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.R300*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTGCCAGCTCGAAGGATACA	0.413																																					p.R300X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C898T	4						.						190.0	180.0	183.0					4																	146575224		2203	4300	6503	146794674	SO:0001587	stop_gained	166785	exon6			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.898C>T	4.37:g.146575224C>T	ENSP00000281317:p.Arg300*		146794674	NM_172250	B3KX40|Q495G7	Nonsense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	C	48	14.540756	0.99800	.	.	ENSG00000151611	ENST00000281317;ENST00000537246;ENST00000541599	.	.	.	5.49	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1884	14.4595	0.67440	0.0:0.9289:0.0:0.0711	.	.	.	.	X	300;300;19	.	ENSP00000281317:R300X	R	+	1	2	MMAA	146794674	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	4.518000	0.60510	1.312000	0.45043	0.650000	0.86243	CGA		0.413	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2		
ZNF827	152485	broad.mit.edu	37	4	146695710	146695710	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:146695710G>A	ENST00000508784.1	-	11	3035	c.2808C>T	c.(2806-2808)ttC>ttT	p.F936F	ZNF827_ENST00000379448.4_Silent_p.F936F|ZNF827_ENST00000513320.1_Silent_p.F586F			Q17R98	ZN827_HUMAN	zinc finger protein 827	936					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F936F(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCATGGTGACGAAGTCGCAGG	0.522																																					p.F936F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2808T	4						.						212.0	141.0	165.0					4																	146695710		2203	4300	6503	146915160	SO:0001819	synonymous_variant	152485	exon11			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.2808C>T	4.37:g.146695710G>A			146915160	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37		.	.	.	.	.	.	.	.	.	.	G	11.02	1.516695	0.27123	.	.	ENSG00000151612	ENST00000511659	.	.	.	5.69	-5.16	0.02857	.	.	.	.	.	T	0.66187	0.2764	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67496	-0.5656	4	.	.	.	-18.4376	17.403	0.87465	0.8778:0.0:0.1222:0.0	.	.	.	.	L	37	.	.	S	-	2	0	ZNF827	146915160	0.973000	0.33851	0.904000	0.35570	0.995000	0.86356	0.208000	0.17415	-1.009000	0.03400	0.650000	0.86243	TCG		0.522	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
POU4F2	5458	broad.mit.edu	37	4	147561640	147561640	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:147561640T>C	ENST00000281321.3	+	2	1158	c.910T>C	c.(910-912)Tcc>Ccc	p.S304P	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	304	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S304P(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CAGGTTCGAGTCCCTCACACT	0.622																																					p.S304P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T910C	4						.						74.0	75.0	75.0					4																	147561640		2203	4300	6503	147781090	SO:0001583	missense	5458	exon2			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.910T>C	4.37:g.147561640T>C	ENSP00000281321:p.Ser304Pro		147781090	NM_004575	B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.348046	0.61183	.	.	ENSG00000151615	ENST00000281321	D	0.84146	-1.81	5.37	5.37	0.77165	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.92886	0.7737	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94022	0.7293	10	0.87932	D	0	.	15.3779	0.74625	0.0:0.0:0.0:1.0	.	304	Q12837	PO4F2_HUMAN	P	304	ENSP00000281321:S304P	ENSP00000281321:S304P	S	+	1	0	POU4F2	147781090	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.018000	0.88722	2.045000	0.60652	0.459000	0.35465	TCC		0.622	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575	
NR3C2	4306	broad.mit.edu	37	4	149002542	149002542	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:149002542T>G	ENST00000358102.3	-	9	3270	c.2908A>C	c.(2908-2910)Aag>Cag	p.K970Q	NR3C2_ENST00000512865.1_Missense_Mutation_p.K853Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.K970Q|NR3C2_ENST00000355292.3_Missense_Mutation_p.K974Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.K974Q	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	970	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GACTCCACCTTGGGCAGCTGG	0.572																																					p.K853Q	Melanoma(27;428 957 40335 51025 51111)											.	.	0			c.A2557C	4						.						61.0	57.0	58.0					4																	149002542		2203	4300	6503	149221992	SO:0001583	missense	4306	exon8			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2908A>C	4.37:g.149002542T>G	ENSP00000350815:p.Lys970Gln		149221992	NM_001166104	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589144	0.86851	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.76170	2.325	0.49130	D	0.99975	D;D	0.67145	0.991;0.996	P;D	0.65323	0.714;0.934	D	0.97183	0.9852	9	.	.	.	.	16.2853	0.82717	0.0:0.0:0.0:1.0	.	853;970	B0ZBF5;B0ZBF6	.;.	Q	970;974;970;853;974	ENSP00000341390:K970Q;ENSP00000347441:K974Q;ENSP00000350815:K970Q;ENSP00000423510:K853Q;ENSP00000421481:K974Q	.	K	-	1	0	NR3C2	149221992	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	6.168000	0.71908	2.236000	0.73375	0.528000	0.53228	AAG		0.572	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
C1QTNF7	114905	broad.mit.edu	37	4	15444216	15444216	+	Silent	SNP	C	C	T	rs140722077	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:15444216C>T	ENST00000444304.2	+	3	989	c.663C>T	c.(661-663)ttC>ttT	p.F221F	C1QTNF7_ENST00000429690.1_Silent_p.F221F|C1QTNF7_ENST00000295297.4_Silent_p.F228F			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	221	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.F221F(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TAAAGACCTTCGACGCCAACA	0.463													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19768	0.0		0.0	False		,,,				2504	0.0				p.F221F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C663T	4						.	C	,,	8,4398	14.3+/-33.2	0,8,2195	106.0	110.0	108.0		684,663,663	-4.1	0.8	4	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	C1QTNF7	NM_001135170.1,NM_001135171.1,NM_031911.4	,,	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	,,	228/297,221/290,221/290	15444216	8,12998	2203	4300	6503	15053314	SO:0001819	synonymous_variant	114905	exon3			AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.663C>T	4.37:g.15444216C>T			15053314	NM_031911	B2RBT3|J3KPW3	Silent	SNP	ENST00000444304.2	37	CCDS3414.1																																																																																				0.463	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2		
NR3C2	4306	broad.mit.edu	37	4	149073677	149073677	+	Missense_Mutation	SNP	G	G	A	rs121912573		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:149073677G>A	ENST00000358102.3	-	6	2815	c.2453C>T	c.(2452-2454)tCg>tTg	p.S818L	NR3C2_ENST00000512865.1_Missense_Mutation_p.S701L|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Missense_Mutation_p.S818L|NR3C2_ENST00000355292.3_Missense_Mutation_p.S822L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S822L|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	818	Steroid-binding.		S -> L (in PHA1A; abolishes translocation to the nucleus and transcription transactivation upon aldosterone binding).		gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.S818L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ATGTTTGTACGATCTCCAGCT	0.363																																					p.S701L	Melanoma(27;428 957 40335 51025 51111)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2102T	4	GRCh37	CM065346	NR3C2	M	rs121912573	.						135.0	133.0	134.0					4																	149073677		2203	4300	6503	149293127	SO:0001583	missense	4306	exon5			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2453C>T	4.37:g.149073677G>A	ENSP00000350815:p.Ser818Leu		149293127	NM_001166104	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170205	0.94768	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35;-4.35	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.93106	3.38	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.99402	1.0928	8	.	.	.	.	19.7686	0.96352	0.0:0.0:1.0:0.0	.	701;818	B0ZBF5;B0ZBF6	.;.	L	818;822;818;701;822	ENSP00000341390:S818L;ENSP00000347441:S822L;ENSP00000350815:S818L;ENSP00000423510:S701L;ENSP00000421481:S822L	.	S	-	2	0	NR3C2	149293127	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.665000	0.90641	0.591000	0.81541	TCG		0.363	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1		
MAB21L2	10586	broad.mit.edu	37	4	151504537	151504537	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:151504537C>T	ENST00000317605.4	+	1	1461	c.356C>T	c.(355-357)gCg>gTg	p.A119V	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	119					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.A119V(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TTCATCACGGCGTCGGGCTAT	0.612																																					p.A119V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C356T	4						.						106.0	101.0	102.0					4																	151504537		2203	4300	6503	151723987	SO:0001583	missense	10586	exon1			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.356C>T	4.37:g.151504537C>T	ENSP00000324701:p.Ala119Val		151723987	NM_006439	B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240070	0.58995	.	.	ENSG00000181541	ENST00000317605	T	0.08370	3.1	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00904	-1.1520	10	0.21014	T	0.42	-18.3647	20.2985	0.98592	0.0:1.0:0.0:0.0	.	119	Q9Y586	MB212_HUMAN	V	119	ENSP00000324701:A119V	ENSP00000324701:A119V	A	+	2	0	MAB21L2	151723987	1.000000	0.71417	0.997000	0.53966	0.665000	0.39181	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GCG		0.612	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439	
CC2D2A	57545	broad.mit.edu	37	4	15581669	15581669	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:15581669C>T	ENST00000503292.1	+	31	4030	c.3850C>T	c.(3850-3852)Cgt>Tgt	p.R1284C	CC2D2A_ENST00000424120.1_Missense_Mutation_p.R1284C|CC2D2A_ENST00000389652.5_Missense_Mutation_p.R1176C|CC2D2A_ENST00000413206.1_Missense_Mutation_p.R1284C	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1284					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)		p.R1176C(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GTTTCCAAATCGTCAGTGCCT	0.368																																					p.R1284C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3850T	4						.						125.0	120.0	122.0					4																	15581669		1842	4101	5943	15190767	SO:0001583	missense	57545	exon31			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3850C>T	4.37:g.15581669C>T	ENSP00000421809:p.Arg1284Cys		15190767	NM_001080522	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941343	0.73557	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.97411	0.9153	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97796	1.0241	10	0.59425	D	0.04	.	18.6661	0.91491	0.0:1.0:0.0:0.0	.	1284;1176	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	C	1284;1284;1176;1176;1284;1176	ENSP00000403465:R1284C;ENSP00000398391:R1284C;ENSP00000421809:R1284C;ENSP00000374303:R1176C	ENSP00000374303:R1176C	R	+	1	0	CC2D2A	15190767	1.000000	0.71417	0.205000	0.23548	0.581000	0.36288	5.882000	0.69714	2.411000	0.81874	0.650000	0.86243	CGT		0.368	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
LRBA	987	broad.mit.edu	37	4	151520230	151520230	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:151520230C>T	ENST00000357115.3	-	38	6218	c.5975G>A	c.(5974-5976)cGg>cAg	p.R1992Q	LRBA_ENST00000507224.1_Missense_Mutation_p.R1992Q|LRBA_ENST00000510413.1_Missense_Mutation_p.R1992Q|LRBA_ENST00000535741.1_Missense_Mutation_p.R1992Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1992	Poly-Arg.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R1992Q(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAATCGTCGCCGGCGCCGCAA	0.478																																					p.R1992Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5975A	4						.						114.0	103.0	107.0					4																	151520230		2203	4300	6503	151739680	SO:0001583	missense	987	exon38			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5975G>A	4.37:g.151520230C>T	ENSP00000349629:p.Arg1992Gln		151739680	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.677410|4.677410	0.88445|0.88445	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.60299	.|0.2;0.2;0.2;0.2	5.55|5.55	5.55|5.55	0.83447|0.83447	.|Domain of unknown function DUF1088 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79557|0.79557	0.4466|0.4466	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.955	T|T	0.80926|0.80926	-0.1164|-0.1164	5|10	.|0.62326	.|D	.|0.03	.|.	19.872|19.872	0.96854|0.96854	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1992;1992	.|P50851;P50851-2	.|LRBA_HUMAN;.	S|Q	645|1992	.|ENSP00000446299:R1992Q;ENSP00000421552:R1992Q;ENSP00000349629:R1992Q;ENSP00000422180:R1992Q	.|ENSP00000349629:R1992Q	G|R	-|-	1|2	0|0	LRBA|LRBA	151739680|151739680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.776000|7.776000	0.85560|0.85560	2.779000|2.779000	0.95612|0.95612	0.585000|0.585000	0.79938|0.79938	GGC|CGG		0.478	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
FBXL5	26234	broad.mit.edu	37	4	15638154	15638154	+	Silent	SNP	C	C	T	rs371090462		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:15638154C>T	ENST00000341285.3	-	5	853	c.729G>A	c.(727-729)tcG>tcA	p.S243S	FBXL5_ENST00000382358.4_Silent_p.S117S|FBXL5_ENST00000412094.2_Silent_p.S226S	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	243	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)	p.S243S(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						gtttccaaagCGATCCCGTTT	0.358																																					p.S243S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G729A	4						.	C	,,	0,4406		0,0,2203	95.0	80.0	85.0		726,678,729	-10.9	0.7	4		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	FBXL5	NM_001193534.1,NM_001193535.1,NM_012161.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	242/691,226/675,243/692	15638154	1,13005	2203	4300	6503	15247252	SO:0001819	synonymous_variant	26234	exon5			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.729G>A	4.37:g.15638154C>T			15247252	NM_012161	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Silent	SNP	ENST00000341285.3	37	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	C	9.235	1.036759	0.19669	0.0	1.16E-4	ENSG00000118564	ENST00000513163	.	.	.	5.44	-10.9	0.00192	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40175	-0.9577	4	.	.	.	-9.9537	0.4787	0.00544	0.2257:0.3009:0.2248:0.2486	.	.	.	.	T	164	.	.	A	-	1	0	FBXL5	15247252	0.012000	0.17670	0.711000	0.30485	0.944000	0.59088	-1.229000	0.02945	-1.908000	0.01086	-0.282000	0.10007	GCT		0.358	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2		
LRBA	987	broad.mit.edu	37	4	151773586	151773586	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:151773586C>T	ENST00000357115.3	-	23	3519	c.3276G>A	c.(3274-3276)gaG>gaA	p.E1092E	LRBA_ENST00000507224.1_Silent_p.E1092E|LRBA_ENST00000510413.1_Silent_p.E1092E|LRBA_ENST00000535741.1_Silent_p.E1092E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1092						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1092E(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTCTGGCATCTCTGAGGCAT	0.383																																					p.E1092E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3276A	4						.						87.0	87.0	87.0					4																	151773586		2203	4299	6502	151993036	SO:0001819	synonymous_variant	987	exon23			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3276G>A	4.37:g.151773586C>T			151993036	NM_006726	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	CCDS3773.1																																																																																				0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		
GATB	5188	broad.mit.edu	37	4	152626365	152626365	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:152626365C>T	ENST00000515812.1	-	6	827	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	PET112_ENST00000263985.6_Missense_Mutation_p.E312K|PET112_ENST00000512306.1_Missense_Mutation_p.E312K														p.E312K(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GAGCGTGTTTCGTTCAGAATT	0.468																																					p.E312K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G934A	4						.						148.0	125.0	133.0					4																	152626365		2203	4300	6503	152845815	SO:0001583	missense	5188	exon7																														ENST00000515812.1:c.811G>A	4.37:g.152626365C>T	ENSP00000426859:p.Glu271Lys		152845815	NM_004564		Missense_Mutation	SNP	ENST00000515812.1	37		.	.	.	.	.	.	.	.	.	.	C	35	5.454697	0.96223	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306	T;T;T	0.58797	0.38;0.31;0.47	5.39	5.39	0.77823	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.86719	0.6000	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92212	0.5777	10	0.87932	D	0	-18.7537	19.1526	0.93495	0.0:1.0:0.0:0.0	.	312;312	D6RDU9;O75879	.;GATB_HUMAN	K	312;271;312	ENSP00000263985:E312K;ENSP00000426859:E271K;ENSP00000420831:E312K	ENSP00000263985:E312K	E	-	1	0	PET112	152845815	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.453000	0.80700	2.514000	0.84764	0.655000	0.94253	GAA		0.468	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1		
TIGD4	201798	broad.mit.edu	37	4	153691110	153691110	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:153691110T>C	ENST00000304337.2	-	2	1867	c.1047A>G	c.(1045-1047)acA>acG	p.T349T		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	349	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T349T(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GTAGTGAAAATGTAAATTCTT	0.353																																					p.T349T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1047G	4						.						83.0	84.0	84.0					4																	153691110		2203	4300	6503	153910560	SO:0001819	synonymous_variant	201798	exon2			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1047A>G	4.37:g.153691110T>C			153910560	NM_145720	Q96LP5	Silent	SNP	ENST00000304337.2	37	CCDS34079.1																																																																																				0.353	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
TIGD4	201798	broad.mit.edu	37	4	153691349	153691349	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:153691349G>A	ENST00000304337.2	-	2	1628	c.808C>T	c.(808-810)Cga>Tga	p.R270*		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	270	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R270*(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TCAAGCTTTCGCATCCATTGT	0.403																																					p.R270X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C808T	4						.						125.0	130.0	128.0					4																	153691349		2203	4300	6503	153910799	SO:0001587	stop_gained	201798	exon2			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.808C>T	4.37:g.153691349G>A	ENSP00000355162:p.Arg270*		153910799	NM_145720	Q96LP5	Nonsense_Mutation	SNP	ENST00000304337.2	37	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	G	40	8.486710	0.98832	.	.	ENSG00000169989	ENST00000304337	.	.	.	6.03	2.38	0.29361	.	1.285710	0.05456	N	0.550388	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	1.93	7.0867	0.25261	0.1256:0.0:0.5268:0.3476	.	.	.	.	X	270	.	ENSP00000355162:R270X	R	-	1	2	TIGD4	153910799	0.868000	0.29978	0.813000	0.32504	0.890000	0.51754	1.135000	0.31454	0.133000	0.18654	-0.890000	0.02929	CGA		0.403	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720	
ARFIP1	27236	broad.mit.edu	37	4	153809304	153809304	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:153809304C>T	ENST00000451320.2	+	8	975	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	ARFIP1_ENST00000356064.3_Missense_Mutation_p.R239C|ARFIP1_ENST00000405727.2_Missense_Mutation_p.R239C|ARFIP1_ENST00000429148.2_Missense_Mutation_p.R91C|ARFIP1_ENST00000353617.2_Missense_Mutation_p.R271C			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	271	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)		p.R271C(2)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TGATGCATATCGCACTGATTT	0.383																																					p.R239C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C715T	4						.						131.0	117.0	122.0					4																	153809304		2203	4300	6503	154028754	SO:0001583	missense	27236	exon7			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.811C>T	4.37:g.153809304C>T	ENSP00000395083:p.Arg271Cys		154028754	NM_001025593	Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	ENST00000451320.2	37	CCDS34080.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442291	0.83993	.	.	ENSG00000164144	ENST00000451320;ENST00000429148;ENST00000353617;ENST00000405727;ENST00000356064	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.85	5.0	0.66597	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.88934	0.6572	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89491	0.3757	10	0.44086	T	0.13	-6.2487	16.2044	0.82114	0.1341:0.8658:0.0:0.0	.	91;239;271	B4DS69;Q2M2X4;P53367	.;.;ARFP1_HUMAN	C	271;91;271;239;239	ENSP00000395083:R271C;ENSP00000396653:R91C;ENSP00000296557:R271C;ENSP00000384189:R239C;ENSP00000348360:R239C	ENSP00000296557:R271C	R	+	1	0	ARFIP1	154028754	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.487000	0.81328	1.435000	0.47434	0.655000	0.94253	CGC		0.383	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447	
FHDC1	85462	broad.mit.edu	37	4	153881906	153881906	+	Missense_Mutation	SNP	C	C	T	rs561578259		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:153881906C>T	ENST00000511601.1	+	6	948	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	FHDC1_ENST00000260008.3_Missense_Mutation_p.R254W			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	254	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.							p.R254W(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CTATTCACTTCGGATTGAAGC	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		17604	0.001		0.0	False		,,,				2504	0.0				p.R254W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C760T	4						.						101.0	100.0	100.0					4																	153881906		2202	4300	6502	154101356	SO:0001583	missense	85462	exon5			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.760C>T	4.37:g.153881906C>T	ENSP00000427567:p.Arg254Trp		154101356	NM_033393		Missense_Mutation	SNP	ENST00000511601.1	37	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078861	0.76528	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.40756	1.02;1.02	5.9	4.13	0.48395	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	H	0.95224	3.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.82402	-0.0475	10	0.87932	D	0	.	14.8981	0.70659	0.3898:0.6102:0.0:0.0	.	254	Q9C0D6	FHDC1_HUMAN	W	254	ENSP00000427567:R254W;ENSP00000260008:R254W	ENSP00000260008:R254W	R	+	1	2	FHDC1	154101356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.163000	0.58183	0.777000	0.33496	0.655000	0.94253	CGG		0.328	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
FHDC1	85462	broad.mit.edu	37	4	153896981	153896981	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:153896981C>T	ENST00000511601.1	+	12	2726	c.2538C>T	c.(2536-2538)ggC>ggT	p.G846G	FHDC1_ENST00000260008.3_Silent_p.G846G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	846								p.G846G(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCTGCAAGGGCGGCCTGCCCA	0.632																																					p.G846G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2538T	4						.						79.0	96.0	90.0					4																	153896981		2203	4300	6503	154116431	SO:0001819	synonymous_variant	85462	exon11			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2538C>T	4.37:g.153896981C>T			154116431	NM_033393		Silent	SNP	ENST00000511601.1	37	CCDS34081.1																																																																																				0.632	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
DCHS2	54798	broad.mit.edu	37	4	155157405	155157405	+	Missense_Mutation	SNP	G	G	A	rs576097143		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:155157405G>A	ENST00000357232.4	-	25	7033	c.7034C>T	c.(7033-7035)cCg>cTg	p.P2345L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2345	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2345L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCTCCATACGGACCAGCATC	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21399	0.0		0.0	False		,,,				2504	0.0				p.P2345L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7034T	4						.						107.0	102.0	103.0					4																	155157405		2203	4300	6503	155376855	SO:0001583	missense	54798	exon25			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7034C>T	4.37:g.155157405G>A	ENSP00000349768:p.Pro2345Leu		155376855	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707149	0.30232	.	.	ENSG00000197410	ENST00000357232	T	0.54071	0.59	5.81	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.090706	0.49916	D	0.000139	T	0.54175	0.1842	L	0.31476	0.935	0.51012	D	0.9999	D	0.89917	1.0	D	0.78314	0.991	T	0.49194	-0.8965	10	0.21540	T	0.41	.	7.7845	0.29085	0.1366:0.0:0.7337:0.1298	.	2345	Q6V1P9	PCD23_HUMAN	L	2345	ENSP00000349768:P2345L	ENSP00000349768:P2345L	P	-	2	0	DCHS2	155376855	1.000000	0.71417	0.630000	0.29268	0.000000	0.00434	4.777000	0.62361	1.462000	0.47948	-0.140000	0.14226	CCG		0.403	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155191073	155191073	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:155191073G>T	ENST00000357232.4	-	19	5190	c.5191C>A	c.(5191-5193)Ctt>Att	p.L1731I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1731	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1731I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CACAGGGAAAGAACTCCATCT	0.343																																					p.L1731I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5191A	4						.						92.0	91.0	91.0					4																	155191073		2203	4299	6502	155410523	SO:0001583	missense	54798	exon19			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5191C>A	4.37:g.155191073G>T	ENSP00000349768:p.Leu1731Ile		155410523	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255130	0.22965	.	.	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.96	4.8	0.61643	Cadherin (4);Cadherin-like (1);	0.153499	0.44902	D	0.000407	T	0.28333	0.0700	N	0.10664	0.02	0.80722	D	1	B	0.30146	0.27	B	0.31812	0.136	T	0.13229	-1.0517	10	0.56958	D	0.05	.	9.2113	0.37320	0.9152:0.0:0.0848:0.0	.	1731	Q6V1P9	PCD23_HUMAN	I	1731	ENSP00000349768:L1731I	ENSP00000349768:L1731I	L	-	1	0	DCHS2	155410523	0.991000	0.36638	0.588000	0.28705	0.186000	0.23388	3.220000	0.51207	1.080000	0.41073	-0.302000	0.09304	CTT		0.343	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
DCHS2	54798	broad.mit.edu	37	4	155256152	155256152	+	Missense_Mutation	SNP	C	C	T	rs201086762		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:155256152C>T	ENST00000357232.4	-	8	1083	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	DCHS2_ENST00000339452.1_Missense_Mutation_p.D861N|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	362	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D861N(1)|p.D362N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGTGACATCGGCATTAATG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		19062	0.001		0.0	False		,,,				2504	0.0				p.D861N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2581A	4						.						112.0	109.0	110.0					4																	155256152		2203	4300	6503	155475602	SO:0001583	missense	54798	exon4			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1084G>A	4.37:g.155256152C>T	ENSP00000349768:p.Asp362Asn		155475602	NM_001142552	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	CCDS3785.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.070	-0.191408	0.06299	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.53206	0.63;0.74	6.17	2.45	0.29901	Cadherin (2);	0.650547	0.15143	N	0.278172	T	0.22003	0.0530	N	0.14661	0.345	0.09310	N	0.999995	B;P	0.50066	0.056;0.931	B;B	0.38225	0.008;0.268	T	0.08146	-1.0736	10	0.17832	T	0.49	.	3.9868	0.09519	0.1244:0.5076:0.2401:0.1278	.	861;362	E9PC11;Q6V1P9	.;PCD23_HUMAN	N	362;861;861	ENSP00000349768:D362N;ENSP00000345062:D861N	ENSP00000345062:D861N	D	-	1	0	DCHS2	155475602	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.394000	0.20834	0.137000	0.18759	0.655000	0.94253	GAT		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
FGA	2243	broad.mit.edu	37	4	155505679	155505679	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:155505679C>T	ENST00000302053.3	-	6	2276	c.2198G>A	c.(2197-2199)gGg>gAg	p.G733E		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	733	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.G733E(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCTTCATTCCCAGCCCAGTC	0.517																																					p.G733E	NSCLC(143;340 1922 20892 22370 48145)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2198A	4						.						140.0	137.0	138.0					4																	155505679		2203	4300	6503	155725129	SO:0001583	missense	2243	exon6				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2198G>A	4.37:g.155505679C>T	ENSP00000306361:p.Gly733Glu		155725129	NM_000508	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127562	0.56721	.	.	ENSG00000171560	ENST00000302053	D	0.82526	-1.62	5.61	5.61	0.85477	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	M	0.85197	2.74	0.80722	D	1	D	0.55385	0.971	P	0.60012	0.867	D	0.92349	0.5888	10	0.87932	D	0	.	19.628	0.95687	0.0:1.0:0.0:0.0	.	733	P02671	FIBA_HUMAN	E	733	ENSP00000306361:G733E	ENSP00000306361:G733E	G	-	2	0	FGA	155725129	1.000000	0.71417	0.440000	0.26846	0.190000	0.23558	4.969000	0.63735	2.643000	0.89663	0.650000	0.86243	GGG		0.517	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
FGA	2243	broad.mit.edu	37	4	155507020	155507020	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:155507020C>T	ENST00000302053.3	-	5	1639	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	FGA_ENST00000403106.3_Missense_Mutation_p.D521N	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	521					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.D521N(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAGGCAGTGTCGAAGAAGGCA	0.498																																					p.D521N	NSCLC(143;340 1922 20892 22370 48145)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1561A	4						.						88.0	87.0	87.0					4																	155507020		2203	4300	6503	155726470	SO:0001583	missense	2243	exon5				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1561G>A	4.37:g.155507020C>T	ENSP00000306361:p.Asp521Asn		155726470	NM_021871	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	8.873	0.949874	0.18431	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.59638	0.25;2.64	5.43	3.69	0.42338	.	54.979600	0.00166	U	0.000007	T	0.48607	0.1509	L	0.34521	1.04	0.09310	N	1	B;B	0.18863	0.001;0.031	B;B	0.14023	0.003;0.01	T	0.28964	-1.0027	10	0.33940	T	0.23	.	6.1701	0.20412	0.1349:0.653:0.0:0.2121	.	521;521	P02671-2;P02671	.;FIBA_HUMAN	N	521	ENSP00000306361:D521N;ENSP00000385981:D521N	ENSP00000306361:D521N	D	-	1	0	FGA	155726470	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.426000	0.07008	1.533000	0.49186	0.655000	0.94253	GAC		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
NPY2R	4887	broad.mit.edu	37	4	156135924	156135924	+	Missense_Mutation	SNP	C	C	T	rs143021899		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:156135924C>T	ENST00000329476.3	+	2	1322	c.833C>T	c.(832-834)gCg>gTg	p.A278V	NPY2R_ENST00000506608.1_Missense_Mutation_p.A278V	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	278					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)	p.A278V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GTGGTGTTTGCGGTCAGCTGG	0.512																																					p.A278V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C833T	4						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	104.0	95.0	98.0		833	5.9	1.0	4	dbSNP_134	98	0,8600		0,0,4300	no	missense	NPY2R	NM_000910.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	278/382	156135924	1,13005	2203	4300	6503	156355374	SO:0001583	missense	4887	exon2			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.833C>T	4.37:g.156135924C>T	ENSP00000332591:p.Ala278Val		156355374	NM_000910	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781968	0.90282	2.27E-4	0.0	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.69806	-0.43;-0.43	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79203	0.4406	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79212	-0.1896	10	0.72032	D	0.01	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	278	P49146	NPY2R_HUMAN	V	278	ENSP00000332591:A278V;ENSP00000426366:A278V	ENSP00000332591:A278V	A	+	2	0	NPY2R	156355374	1.000000	0.71417	0.967000	0.41034	0.972000	0.66771	5.999000	0.70665	2.819000	0.97034	0.643000	0.83706	GCG		0.512	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	
GUCY1A3	2982	broad.mit.edu	37	4	156632157	156632157	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:156632157G>A	ENST00000296518.7	+	6	1049	c.840G>A	c.(838-840)tcG>tcA	p.S280S	GUCY1A3_ENST00000455639.2_Silent_p.S280S|GUCY1A3_ENST00000506455.1_Silent_p.S280S|GUCY1A3_ENST00000511507.1_Silent_p.S280S|GUCY1A3_ENST00000511108.1_Silent_p.S280S|GUCY1A3_ENST00000393832.3_Silent_p.S22S|GUCY1A3_ENST00000513574.1_Silent_p.S280S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	280					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.S280S(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCCCACATCGCTATTCTGCA	0.463																																					p.S280S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G840A	4						.						100.0	95.0	97.0					4																	156632157		2203	4300	6503	156851607	SO:0001819	synonymous_variant	2982	exon6				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.840G>A	4.37:g.156632157G>A			156851607	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																				0.463	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1A3	2982	broad.mit.edu	37	4	156634337	156634337	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:156634337G>T	ENST00000296518.7	+	7	1383	c.1174G>T	c.(1174-1176)Gat>Tat	p.D392Y	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D392Y|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D392Y|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D392Y|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D392Y|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.D134Y|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D392Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	392					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.D392Y(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAGATTAGAAGATTTTACAGG	0.463																																					p.D392Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1174T	4						.						86.0	85.0	85.0					4																	156634337		2203	4300	6503	156853787	SO:0001583	missense	2982	exon7				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1174G>T	4.37:g.156634337G>T	ENSP00000296518:p.Asp392Tyr		156853787	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529757	0.85706	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	6.03	6.03	0.97812	Haem NO binding associated (1);	0.000000	0.64402	D	0.000003	D	0.94532	0.8239	M	0.76574	2.34	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71656	0.974;0.974	D	0.94200	0.7449	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	392;392	B3KU69;Q02108	.;GCYA3_HUMAN	Y	392;392;392;392;134;392;392	ENSP00000424361:D392Y;ENSP00000421493:D392Y;ENSP00000426968:D392Y;ENSP00000412201:D392Y;ENSP00000377418:D134Y;ENSP00000296518:D392Y;ENSP00000426040:D392Y	ENSP00000296518:D392Y	D	+	1	0	GUCY1A3	156853787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.861000	0.98227	0.655000	0.94253	GAT		0.463	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
GUCY1B3	2983	broad.mit.edu	37	4	156716538	156716538	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:156716538C>T	ENST00000264424.8	+	7	854	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.R280C|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.R238C|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.R190C|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.R190C|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.R190C|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.R258C	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	258					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R258C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTCGCTGGTTCGTCCTCATAT	0.353																																					p.R258C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C772T	4						.						153.0	141.0	145.0					4																	156716538		1853	4094	5947	156935988	SO:0001583	missense	2983	exon7			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.772C>T	4.37:g.156716538C>T	ENSP00000264424:p.Arg258Cys		156935988	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190860	0.94923	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.77	5.77	0.91146	Haem NO binding associated (1);	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.993;1.0;1.0	D	0.97268	0.9909	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	238;280;190;258;258	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	C	190;280;238;190;258;258;190	ENSP00000427226:R190C;ENSP00000426786:R280C;ENSP00000426319:R238C;ENSP00000422313:R190C;ENSP00000264424:R258C;ENSP00000420842:R258C;ENSP00000425065:R190C	ENSP00000264424:R258C	R	+	1	0	GUCY1B3	156935988	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.283000	0.78640	2.885000	0.99019	0.655000	0.94253	CGT		0.353	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
GUCY1B3	2983	broad.mit.edu	37	4	156721045	156721045	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:156721045G>A	ENST00000264424.8	+	9	1076	c.994G>A	c.(994-996)Gat>Aat	p.D332N	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.D354N|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.D312N|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.D264N|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.D264N|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.D264N|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.D332N	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	332					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.D332N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GAACCTGGACGATTTGACAAG	0.428																																					p.D332N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G994A	4						.						114.0	110.0	111.0					4																	156721045		1964	4160	6124	156940495	SO:0001583	missense	2983	exon9			AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.994G>A	4.37:g.156721045G>A	ENSP00000264424:p.Asp332Asn		156940495	NM_000857	B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259020	0.95368	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.91	5.91	0.95273	Haem NO binding associated (1);	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.977;1.0;1.0	D;D;P;D;D	0.76071	0.987;0.984;0.832;0.978;0.962	D	0.94309	0.7544	10	0.62326	D	0.03	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	312;354;264;332;332	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	N	264;354;312;264;332;332;264	ENSP00000427226:D264N;ENSP00000426786:D354N;ENSP00000426319:D312N;ENSP00000422313:D264N;ENSP00000264424:D332N;ENSP00000420842:D332N;ENSP00000425065:D264N	ENSP00000264424:D332N	D	+	1	0	GUCY1B3	156940495	1.000000	0.71417	0.448000	0.26945	0.982000	0.71751	9.476000	0.97823	2.808000	0.96608	0.655000	0.94253	GAT		0.428	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2		
ASIC5	51802	broad.mit.edu	37	4	156752999	156752999	+	Missense_Mutation	SNP	G	G	A	rs142024528		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:156752999G>A	ENST00000537611.2	-	9	1350	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	435					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)	p.A435V(1)									CACACTCACCGCCTTTTGCTG	0.328																																					p.A435V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1304T	4						.	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	134.0	145.0	141.0		1304	3.8	1.0	4	dbSNP_134	141	0,8600		0,0,4300	yes	missense	ACCN5	NM_017419.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	435/506	156752999	1,13005	2203	4300	6503	156972449	SO:0001583	missense	51802	exon9			AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.1304C>T	4.37:g.156752999G>A	ENSP00000442477:p.Ala435Val		156972449	NM_017419		Missense_Mutation	SNP	ENST00000537611.2	37	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908360	0.72868	2.27E-4	0.0	ENSG00000256394	ENST00000537611	T	0.67171	-0.25	4.65	3.79	0.43588	.	0.000000	0.64402	D	0.000002	T	0.77631	0.4159	M	0.78049	2.395	0.45515	D	0.998475	D	0.56035	0.974	P	0.58077	0.832	T	0.78097	-0.2337	10	0.34782	T	0.22	-19.865	14.7655	0.69634	0.0:0.0:0.854:0.146	.	435	Q9NY37	ACCN5_HUMAN	V	435	ENSP00000442477:A435V	ENSP00000264432:A435V	A	-	2	0	ACCN5	156972449	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.018000	0.70811	1.249000	0.43950	0.585000	0.79938	GCG		0.328	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		
GRIA2	2891	broad.mit.edu	37	4	158284078	158284078	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:158284078G>A	ENST00000264426.9	+	15	2813	c.2534G>A	c.(2533-2535)cGa>cAa	p.R845Q	GRIA2_ENST00000393815.2_Missense_Mutation_p.R798Q|GRIA2_ENST00000449365.1_Missense_Mutation_p.R798Q|GRIA2_ENST00000296526.7_Missense_Mutation_p.R845Q|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000507898.1_Missense_Mutation_p.R798Q	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	845					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|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)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|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)|ionotropic glutamate receptor activity (GO:0004970)	p.R845Q(4)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GAGGCGAAACGAATGAAGGTG	0.448																																					p.R798Q												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G2393A	4						.						151.0	135.0	140.0					4																	158284078		2203	4300	6503	158503528	SO:0001583	missense	2891	exon15				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2534G>A	4.37:g.158284078G>A	ENSP00000264426:p.Arg845Gln		158503528	NM_001083620	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567681	0.65651	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.15139	2.45;2.45;2.49;2.5;2.45	6.08	6.08	0.98989	.	0.069737	0.64402	D	0.000015	T	0.33177	0.0854	M	0.80982	2.52	0.80722	D	1	D;D;P	0.61697	0.99;0.97;0.76	P;P;B	0.45660	0.478;0.489;0.091	T	0.16394	-1.0404	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	845;845;798	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	Q	798;798;845;845;798	ENSP00000426845:R798Q;ENSP00000377403:R798Q;ENSP00000296526:R845Q;ENSP00000264426:R845Q;ENSP00000389837:R798Q	ENSP00000264426:R845Q	R	+	2	0	GRIA2	158503528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.894000	0.99253	0.591000	0.81541	CGA		0.448	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
FAM198B	51313	broad.mit.edu	37	4	159091776	159091776	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:159091776C>T	ENST00000296530.8	-	2	1373	c.752G>A	c.(751-753)gGg>gAg	p.G251E	FAM198B_ENST00000585682.1_Missense_Mutation_p.G251E|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.G251E|RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.G251E|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	251						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.G251E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						AGGTGCGCCCCCCTCCAGCAC	0.632											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G251E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G752A	4						.						29.0	34.0	32.0					4																	159091776		2203	4299	6502	159311226	SO:0001583	missense	51313	exon2				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.752G>A	4.37:g.159091776C>T	ENSP00000296530:p.Gly251Glu	1798	159311226	NM_001128424	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	ENST00000296530.8	37	CCDS3798.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519305	0.27211	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.27256	1.68;1.68	4.85	1.06	0.20224	.	0.521697	0.19040	N	0.124308	T	0.22282	0.0537	L	0.59436	1.845	0.09310	N	1	P;B;B	0.38078	0.617;0.383;0.383	B;B;B	0.39299	0.121;0.296;0.203	T	0.11567	-1.0582	10	0.27082	T	0.32	-0.3477	6.0794	0.19933	0.0:0.4988:0.2399:0.2613	.	251;251;251	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	E	251	ENSP00000296530:G251E;ENSP00000377396:G251E	ENSP00000296530:G251E	G	-	2	0	FAM198B	159311226	0.000000	0.05858	0.029000	0.17559	0.783000	0.44284	0.399000	0.20916	-0.018000	0.14079	0.563000	0.77884	GGG		0.632	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613	
FNIP2	57600	broad.mit.edu	37	4	159782858	159782858	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:159782858G>T	ENST00000264433.6	+	12	1470	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	FNIP2_ENST00000379346.3_Missense_Mutation_p.E488D	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	465					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E465D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCTTCTCAGAGAAACGTACCT	0.493																																					p.E465D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1395T	4						.						146.0	139.0	141.0					4																	159782858		1959	4150	6109	160002308	SO:0001583	missense	57600	exon12			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1395G>T	4.37:g.159782858G>T	ENSP00000264433:p.Glu465Asp		160002308	NM_020840	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990995	0.54041	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.29917	1.55;1.55;1.55	5.74	5.74	0.90152	.	.	.	.	.	T	0.23492	0.0568	N	0.16567	0.415	0.49483	D	0.999793	B	0.30686	0.29	B	0.38428	0.273	T	0.09975	-1.0650	8	.	.	.	.	13.1497	0.59482	0.0727:0.0:0.9273:0.0	.	465	Q9P278	FNIP2_HUMAN	D	465;488;488	ENSP00000264433:E465D;ENSP00000421488:E488D;ENSP00000368651:E488D	.	E	+	3	2	FNIP2	160002308	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.279000	0.51670	2.722000	0.93159	0.591000	0.81541	GAG		0.493	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840	
NPY5R	4889	broad.mit.edu	37	4	164272751	164272751	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:164272751T>C	ENST00000515560.1	+	4	2848	c.1326T>C	c.(1324-1326)tgT>tgC	p.C442C	NPY5R_ENST00000338566.3_Silent_p.C442C|NPY5R_ENST00000506953.1_Silent_p.C442C			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	442					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.C442C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TTATACACTGTCTTCATATGT	0.294																																					p.C442C	Melanoma(139;1287 1774 9781 19750 25599)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1326C	4						.						51.0	52.0	52.0					4																	164272751		2190	4290	6480	164492201	SO:0001819	synonymous_variant	4889	exon4			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1326T>C	4.37:g.164272751T>C			164492201	NM_006174	Q6GTR7|Q92916	Silent	SNP	ENST00000515560.1	37	CCDS3804.1																																																																																				0.294	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174	
TRIM60	166655	broad.mit.edu	37	4	165962541	165962541	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:165962541T>G	ENST00000512596.1	+	3	1533	c.1317T>G	c.(1315-1317)acT>acG	p.T439T	TRIM60_ENST00000508504.1_Silent_p.T439T|TRIM60_ENST00000341062.5_Silent_p.T439T	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	439	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T439T(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTCTCTATACTTTTAACGATT	0.343																																					p.T439T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1317G	4						.						65.0	71.0	69.0					4																	165962541		2203	4300	6503	166181991	SO:0001819	synonymous_variant	166655	exon3			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1317T>G	4.37:g.165962541T>G			166181991	NM_152620	Q8NA35	Silent	SNP	ENST00000512596.1	37	CCDS3808.1																																																																																				0.343	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620	
CPE	1363	broad.mit.edu	37	4	166385683	166385683	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:166385683G>A	ENST00000402744.4	+	2	729	c.449G>A	c.(448-450)cGc>cAc	p.R150H		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	150					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.R150H(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CACAGTACCCGCATTCACATC	0.512											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R150H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G449A	4						.						180.0	151.0	161.0					4																	166385683		2203	4300	6503	166605133	SO:0001583	missense	1363	exon2			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.449G>A	4.37:g.166385683G>A	ENSP00000386104:p.Arg150His	1854	166605133	NM_001873	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769815	0.90020	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.3	5.3	0.74995	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.15636	-1.0430	10	0.87932	D	0	-13.6776	18.9352	0.92583	0.0:0.0:1.0:0.0	.	150	P16870	CBPE_HUMAN	H	38;150;114;38;38	ENSP00000424830:R38H;ENSP00000386104:R150H;ENSP00000416601:R38H;ENSP00000423699:R38H	ENSP00000261510:R114H	R	+	2	0	CPE	166605133	1.000000	0.71417	0.398000	0.26321	0.757000	0.42996	9.794000	0.99096	2.483000	0.83821	0.585000	0.79938	CGC		0.512	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873	
CPE	1363	broad.mit.edu	37	4	166388945	166388945	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:166388945G>A	ENST00000402744.4	+	3	890	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	204					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)	p.E204K(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAATGAGAAAGAAGGTGGTCC	0.428																																					p.E204K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G610A	4						.						75.0	71.0	72.0					4																	166388945		2203	4300	6503	166608395	SO:0001583	missense	1363	exon3			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.610G>A	4.37:g.166388945G>A	ENSP00000386104:p.Glu204Lys		166608395	NM_001873	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.137856	0.37728	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.34	4.44	0.53790	Peptidase M14, carboxypeptidase A (2);	0.049334	0.85682	D	0.000000	T	0.08044	0.0201	N	0.21097	0.63	0.80722	D	1	B	0.30146	0.27	B	0.31812	0.136	T	0.20273	-1.0280	10	0.08837	T	0.75	-7.3722	15.4483	0.75253	0.0:0.1391:0.8609:0.0	.	204	P16870	CBPE_HUMAN	K	92;204;168;92;92	ENSP00000424830:E92K;ENSP00000386104:E204K;ENSP00000416601:E92K;ENSP00000423699:E92K	ENSP00000261510:E168K	E	+	1	0	CPE	166608395	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.029000	0.70895	2.492000	0.84095	0.650000	0.86243	GAA		0.428	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873	
TLL1	7092	broad.mit.edu	37	4	166929152	166929152	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:166929152G>T	ENST00000061240.2	+	7	1516	c.869G>T	c.(868-870)aGa>aTa	p.R290I	TLL1_ENST00000507499.1_Missense_Mutation_p.R290I|TLL1_ENST00000513213.1_Missense_Mutation_p.R290I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	290	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R290I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTGGAGAAAGATATGATTTC	0.403																																					p.R290I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G869T	4						.						130.0	123.0	125.0					4																	166929152		2203	4300	6503	167148602	SO:0001583	missense	7092	exon7			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.869G>T	4.37:g.166929152G>T	ENSP00000061240:p.Arg290Ile		167148602	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635748	0.47049	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.63744	-0.06;-0.06;-0.06	5.29	4.43	0.53597	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.137288	0.49916	U	0.000133	T	0.41305	0.1153	N	0.08118	0	0.51233	D	0.999915	B;B	0.17667	0.023;0.012	B;B	0.18263	0.012;0.021	T	0.31998	-0.9923	10	0.38643	T	0.18	.	12.4495	0.55669	0.0:0.425:0.575:0.0	.	290;290	E9PD25;O43897	.;TLL1_HUMAN	I	290	ENSP00000061240:R290I;ENSP00000426082:R290I;ENSP00000422937:R290I	ENSP00000061240:R290I	R	+	2	0	TLL1	167148602	0.104000	0.21937	0.994000	0.49952	0.622000	0.37654	3.040000	0.49799	2.488000	0.83962	0.650000	0.86243	AGA		0.403	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
TLL1	7092	broad.mit.edu	37	4	166986903	166986903	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:166986903C>T	ENST00000061240.2	+	16	2723	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F	TLL1_ENST00000507499.1_Silent_p.F715F	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	692	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F692F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGGCAAATTCTGTGGCGCTG	0.403																																					p.F692F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2076T	4						.						151.0	147.0	148.0					4																	166986903		2203	4300	6503	167206353	SO:0001819	synonymous_variant	7092	exon16			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2076C>T	4.37:g.166986903C>T			167206353	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																				0.403	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
TLL1	7092	broad.mit.edu	37	4	167020471	167020471	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:167020471T>G	ENST00000061240.2	+	20	3346	c.2699T>G	c.(2698-2700)cTg>cGg	p.L900R	TLL1_ENST00000507499.1_Missense_Mutation_p.L923R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	900	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L900R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCAAGAGATCTGTACTCACAT	0.433																																					p.L900R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2699G	4						.						154.0	140.0	145.0					4																	167020471		2203	4300	6503	167239921	SO:0001583	missense	7092	exon20			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2699T>G	4.37:g.167020471T>G	ENSP00000061240:p.Leu900Arg		167239921	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	T	17.17	3.320243	0.60634	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.17854	2.25;2.25	5.76	5.76	0.90799	CUB (5);	0.000000	0.64402	U	0.000006	T	0.47173	0.1431	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.955	T	0.48198	-0.9056	10	0.27785	T	0.31	.	16.087	0.81065	0.0:0.0:0.0:1.0	.	923;900	E9PD25;O43897	.;TLL1_HUMAN	R	900;923	ENSP00000061240:L900R;ENSP00000426082:L923R	ENSP00000061240:L900R	L	+	2	0	TLL1	167239921	1.000000	0.71417	0.978000	0.43139	0.029000	0.11900	7.997000	0.88414	2.202000	0.70862	0.533000	0.62120	CTG		0.433	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
TLL1	7092	broad.mit.edu	37	4	167020625	167020625	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:167020625C>A	ENST00000061240.2	+	20	3500	c.2853C>A	c.(2851-2853)ctC>ctA	p.L951L	TLL1_ENST00000507499.1_Silent_p.L974L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	951	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L951L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGTGGAGCTCTTTGATGGTC	0.453																																					p.L951L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2853A	4						.						201.0	204.0	203.0					4																	167020625		2203	4300	6503	167240075	SO:0001819	synonymous_variant	7092	exon20			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2853C>A	4.37:g.167020625C>A			167240075	NM_012464	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																				0.453	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
SPOCK3	50859	broad.mit.edu	37	4	167663158	167663158	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:167663158C>A	ENST00000357154.3	-	10	1130	c.993G>T	c.(991-993)aaG>aaT	p.K331N	SPOCK3_ENST00000506886.1_Missense_Mutation_p.K331N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.K233N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.K328N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.K331N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.K233N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.K328N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.K331N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.K288N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.K280N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.K328N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_Missense_Mutation_p.K211N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.K235N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.K199N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	331	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.K328N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTAGGAGCTTCTTTACCCCTT	0.378																																					p.K331N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G993T	4						.						124.0	126.0	126.0					4																	167663158		2203	4300	6503	167899733	SO:0001583	missense	50859	exon10			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.993G>T	4.37:g.167663158C>A	ENSP00000349677:p.Lys331Asn		167899733	NM_016950	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855357	0.51376	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;1.06;-0.03;-0.03;-0.03;-0.03;-0.03;1.06	5.23	5.23	0.72850	Thyroglobulin type-1 (4);	0.099758	0.64402	D	0.000002	T	0.78755	0.4333	M	0.69463	2.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.991;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.992;0.998;0.998;0.959;0.998	T	0.79472	-0.1789	10	0.56958	D	0.05	-13.0783	19.1553	0.93507	0.0:1.0:0.0:0.0	.	233;235;280;340;288;328;331	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	N	331;328;328;331;331;331;288;211;233;328;199;280;233;235	ENSP00000349677:K331N;ENSP00000350153:K328N;ENSP00000425570:K328N;ENSP00000420920:K331N;ENSP00000423421:K331N;ENSP00000423606:K331N;ENSP00000426716:K288N;ENSP00000444789:K211N;ENSP00000426318:K233N;ENSP00000425502:K328N;ENSP00000441396:K199N;ENSP00000411344:K280N;ENSP00000445430:K233N;ENSP00000438142:K235N	ENSP00000349677:K331N	K	-	3	2	SPOCK3	167899733	1.000000	0.71417	0.991000	0.47740	0.051000	0.14879	6.612000	0.74187	2.598000	0.87819	0.643000	0.83706	AAG		0.378	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
CBR4	84869	broad.mit.edu	37	4	169911453	169911453	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:169911453C>T	ENST00000306193.3	-	5	730	c.562G>A	c.(562-564)Gac>Aac	p.D188N	CBR4_ENST00000509108.1_Intron	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	188					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)	p.D188N(1)		kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TCTTTCAAGTCTTTCGTCATA	0.333																																					p.D188N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562A	4						.						63.0	63.0	63.0					4																	169911453		2203	4300	6503	170148028	SO:0001583	missense	84869	exon5			BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.562G>A	4.37:g.169911453C>T	ENSP00000303525:p.Asp188Asn		170148028	NM_032783	Q8WTW8|Q96K93	Missense_Mutation	SNP	ENST00000306193.3	37	CCDS3812.1	.	.	.	.	.	.	.	.	.	.	C	7.468	0.646070	0.14451	.	.	ENSG00000145439	ENST00000306193	D	0.87887	-2.31	5.24	1.12	0.20585	NAD(P)-binding domain (1);	0.407300	0.28414	N	0.015435	T	0.73001	0.3531	N	0.16567	0.415	0.50632	D	0.999882	B	0.06786	0.001	B	0.04013	0.001	T	0.55854	-0.8075	9	.	.	.	.	8.9799	0.35959	0.0:0.3535:0.4885:0.158	.	188	Q8N4T8	CBR4_HUMAN	N	188	ENSP00000303525:D188N	.	D	-	1	0	CBR4	170148028	0.993000	0.37304	0.640000	0.29408	0.498000	0.33706	0.638000	0.24674	-0.138000	0.11434	0.460000	0.39030	GAC		0.333	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2	NM_032783	
CLCN3	1182	broad.mit.edu	37	4	170616794	170616794	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:170616794C>A	ENST00000513761.1	+	8	1527	c.968C>A	c.(967-969)tCt>tAt	p.S323Y	CLCN3_ENST00000504131.2_Missense_Mutation_p.S306Y|CLCN3_ENST00000347613.4_Missense_Mutation_p.S323Y|CLCN3_ENST00000360642.3_Intron	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	323					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)	p.S323Y(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GCAGGGGTTTCTGTAGCTTTT	0.338																																					p.S323Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C968A	4						.						83.0	90.0	88.0					4																	170616794		2203	4300	6503	170853369	SO:0001583	missense	1182	exon8			X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.968C>A	4.37:g.170616794C>A	ENSP00000424603:p.Ser323Tyr		170853369	NM_001829	B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	CCDS34101.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.600034|4.600034	0.87055|0.87055	.|.	.|.	ENSG00000109572|ENSG00000109572	ENST00000515420|ENST00000513761;ENST00000347613;ENST00000504131;ENST00000507875	.|D;D;D;D	.|0.94376	.|-3.41;-3.41;-3.41;-3.41	5.9|5.9	5.9|5.9	0.94986|0.94986	.|Chloride channel, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98194|0.98194	0.9403|0.9403	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.995;0.997;0.995;0.993	D|D	0.98871|0.98871	1.0766|1.0766	5|10	.|0.87932	.|D	.|0	-11.8438|-11.8438	19.8872|19.8872	0.96916|0.96916	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|306;296;323;323	.|B9EGJ9;E9PE15;P51790;P51790-2	.|.;.;CLCN3_HUMAN;.	M|Y	5|323;323;306;296	.|ENSP00000424603:S323Y;ENSP00000261514:S323Y;ENSP00000424540:S306Y;ENSP00000425323:S296Y	.|ENSP00000261514:S323Y	L|S	+|+	1|2	2|0	CLCN3|CLCN3	170853369|170853369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.666000|0.666000	0.39218|0.39218	7.625000|7.625000	0.83145|0.83145	2.808000|2.808000	0.96608|0.96608	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.338	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2		
CLRN2	645104	broad.mit.edu	37	4	17517026	17517027	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	TG	TG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:17517026_17517027TG>AT	ENST00000511148.2	+	1	239_240	c.137_138TG>AT	c.(136-138)cTG>cAT	p.L46H		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	46						integral component of membrane (GO:0016021)		p.L46>?(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAGTGGATCTGGTCAACGCCA	0.559																																					.												.	.	1	Complex(1)	large_intestine(1)	c.137_138AT	4						.																																			17126125	SO:0001583	missense	645104	exon1				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	Exception_encountered	4.37:g.17517026_17517027delinsAT	ENSP00000424711:p.Leu46His		17126124	NM_001079827		Missense_Mutation	DNP	ENST00000511148.2	37	CCDS47032.1																																																																																				0.559	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827	
NCAPG	64151	broad.mit.edu	37	4	17830003	17830003	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:17830003G>A	ENST00000251496.2	+	12	1932	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	586					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E586K(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TGGAATCATCGAATCTTTGGT	0.338																																					p.E586K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1756A	4						.						137.0	129.0	132.0					4																	17830003		2203	4300	6503	17439101	SO:0001583	missense	64151	exon12			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1756G>A	4.37:g.17830003G>A	ENSP00000251496:p.Glu586Lys		17439101	NM_022346	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284364	0.59867	.	.	ENSG00000109805	ENST00000251496;ENST00000510063	T;T	0.37058	1.46;1.22	5.01	5.01	0.66863	Armadillo-type fold (1);	0.169344	0.51477	D	0.000091	T	0.41166	0.1147	M	0.62723	1.935	0.49915	D	0.999838	P	0.51653	0.947	P	0.44561	0.453	T	0.40701	-0.9549	10	0.48119	T	0.1	-19.5252	15.4392	0.75171	0.0:0.1391:0.8609:0.0	.	586	Q9BPX3	CND3_HUMAN	K	586;151	ENSP00000251496:E586K;ENSP00000425625:E151K	ENSP00000251496:E586K	E	+	1	0	NCAPG	17439101	1.000000	0.71417	0.998000	0.56505	0.367000	0.29736	4.789000	0.62446	2.309000	0.77851	0.585000	0.79938	GAA		0.338	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
MFAP3L	9848	broad.mit.edu	37	4	170913064	170913064	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:170913064C>T	ENST00000361618.3	-	3	1002	c.695G>A	c.(694-696)cGc>cAc	p.R232H	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R129H	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R232H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TTCGATGTAGCGGGCGAACTC	0.542																																					p.R232H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G695A	4						.						64.0	70.0	68.0					4																	170913064		2203	4300	6503	171149639	SO:0001583	missense	9848	exon3			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.695G>A	4.37:g.170913064C>T	ENSP00000354583:p.Arg232His		171149639	NM_021647	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	ENST00000361618.3	37	CCDS34103.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708100	0.89018	.	.	ENSG00000198948	ENST00000393704;ENST00000361618;ENST00000512698	D;D;D	0.99282	-5.68;-2.89;-5.28	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.99278	0.9748	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99844	1.1064	10	0.66056	D	0.02	-5.6071	19.1622	0.93537	0.0:1.0:0.0:0.0	.	232	O75121	MFA3L_HUMAN	H	129;232;129	ENSP00000377307:R129H;ENSP00000354583:R232H;ENSP00000422791:R129H	ENSP00000354583:R232H	R	-	2	0	MFAP3L	171149639	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.818000	0.86416	2.522000	0.85027	0.555000	0.69702	CGC		0.542	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647	
GLRA3	8001	broad.mit.edu	37	4	175604004	175604004	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:175604004G>A	ENST00000274093.3	-	6	1163	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	GLRA3_ENST00000340217.5_Silent_p.L221L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	221					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.L221L(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	TCTTTCAACAGAAACTGGGGC	0.388																																					p.L221L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C661T	4						.						130.0	125.0	126.0					4																	175604004		2203	4300	6503	175840579	SO:0001819	synonymous_variant	8001	exon6			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.661C>T	4.37:g.175604004G>A			175840579	NM_001042543	D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	CCDS3822.1																																																																																				0.388	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		
WDR17	116966	broad.mit.edu	37	4	177093644	177093644	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:177093644C>A	ENST00000280190.4	+	26	3494	c.3338C>A	c.(3337-3339)cCt>cAt	p.P1113H	WDR17_ENST00000393643.2_Missense_Mutation_p.P1089H|WDR17_ENST00000507824.2_Missense_Mutation_p.P1088H|WDR17_ENST00000508596.1_Missense_Mutation_p.P1074H			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1113								p.P1113H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAAGCCCTTCCTATTGGTATT	0.308																																					p.P1074H												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C3221A	4						.						68.0	72.0	70.0					4																	177093644		2203	4300	6503	177330638	SO:0001583	missense	116966	exon24			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3338C>A	4.37:g.177093644C>A	ENSP00000280190:p.Pro1113His		177330638	NM_181265	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456231	0.63401	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.57595	0.42;0.44;0.39	5.6	5.6	0.85130	.	0.151410	0.42172	D	0.000745	T	0.66674	0.2813	M	0.65975	2.015	0.52501	D	0.999959	P;P;P	0.48998	0.918;0.918;0.918	P;P;P	0.53062	0.625;0.717;0.717	T	0.68168	-0.5480	10	0.59425	D	0.04	-11.0296	19.5971	0.95546	0.0:1.0:0.0:0.0	.	1089;1074;1113	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	H	1074;1089;1113;1089	ENSP00000422763:P1074H;ENSP00000377258:P1089H;ENSP00000280190:P1113H	ENSP00000280190:P1113H	P	+	2	0	WDR17	177330638	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.436000	0.52856	2.633000	0.89246	0.655000	0.94253	CCT		0.308	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2		
SPATA4	132851	broad.mit.edu	37	4	177106011	177106011	+	Missense_Mutation	SNP	C	C	T	rs201475322|rs368179395|rs28381989	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:177106011C>T	ENST00000280191.2	-	6	946	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	SPATA4_ENST00000515234.1_Missense_Mutation_p.E107K	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	280						cytoplasm (GO:0005737)		p.E280*(1)|p.E280K(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ACATGTATTTCTCTATGTGAA	0.348																																					p.E280K												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.G838A	4						.						157.0	131.0	140.0					4																	177106011		2203	4249	6452	177343005	SO:0001583	missense	132851	exon6			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.838G>A	4.37:g.177106011C>T	ENSP00000280191:p.Glu280Lys		177343005	NM_144644	Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499899	0.26861	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.51574	0.7	5.02	-0.959	0.10343	.	0.642001	0.15100	N	0.280549	T	0.32133	0.0819	L	0.48642	1.525	0.09310	N	1	B	0.17465	0.022	B	0.12837	0.008	T	0.25433	-1.0132	10	0.54805	T	0.06	-5.0923	1.2829	0.02044	0.14:0.3469:0.2722:0.2409	.	280	Q8NEY3	SPAT4_HUMAN	K	280;107	ENSP00000280191:E280K	ENSP00000280191:E280K	E	-	1	0	SPATA4	177343005	0.925000	0.31364	0.001000	0.08648	0.016000	0.09150	0.423000	0.21313	-0.346000	0.08312	-0.283000	0.09986	GAA		0.348	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644	
SPATA4	132851	broad.mit.edu	37	4	177109284	177109284	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:177109284A>G	ENST00000280191.2	-	5	899	c.791T>C	c.(790-792)gTt>gCt	p.V264A	SPATA4_ENST00000515234.1_Missense_Mutation_p.V91A	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	264						cytoplasm (GO:0005737)		p.V264A(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		AACAGGGACAACTCTTCCTCT	0.338																																					p.V264A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T791C	4						.						61.0	66.0	64.0					4																	177109284		2203	4300	6503	177346278	SO:0001583	missense	132851	exon5			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.791T>C	4.37:g.177109284A>G	ENSP00000280191:p.Val264Ala		177346278	NM_144644	Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	A	0.489	-0.876457	0.02550	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.42513	0.97	4.67	-7.23	0.01480	.	2.648950	0.01627	N	0.023333	T	0.20981	0.0505	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25882	-1.0119	10	0.06365	T	0.9	-13.3204	3.4142	0.07369	0.2713:0.1397:0.4524:0.1366	.	264	Q8NEY3	SPAT4_HUMAN	A	264;91	ENSP00000280191:V264A	ENSP00000280191:V264A	V	-	2	0	SPATA4	177346278	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.282000	0.02799	-1.088000	0.03077	-1.338000	0.01255	GTT		0.338	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644	
TENM3	55714	broad.mit.edu	37	4	183652272	183652272	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:183652272C>T	ENST00000511685.1	+	16	3070	c.2947C>T	c.(2947-2949)Ccc>Tcc	p.P983S	TENM3_ENST00000406950.2_Missense_Mutation_p.P983S|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	983					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P983S(1)									TGAAGACAGTCCCATCATTCC	0.398																																					p.P983S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2947T	4						.						122.0	110.0	114.0					4																	183652272		1901	4118	6019	183889266	SO:0001583	missense	55714	exon15			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2947C>T	4.37:g.183652272C>T	ENSP00000424226:p.Pro983Ser		183889266	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697813	0.48307	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.85955	-2.05;-2.05	5.11	5.11	0.69529	.	.	.	.	.	T	0.78136	0.4236	L	0.31752	0.955	0.80722	D	1	P	0.43826	0.818	B	0.37989	0.262	T	0.76879	-0.2796	9	0.26408	T	0.33	.	19.09	0.93223	0.0:1.0:0.0:0.0	.	983	Q9P273	TEN3_HUMAN	S	983	ENSP00000424226:P983S;ENSP00000385276:P983S	ENSP00000385276:P983S	P	+	1	0	ODZ3	183889266	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.723000	0.68492	2.812000	0.96745	0.557000	0.71058	CCC		0.398	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183664526	183664526	+	Missense_Mutation	SNP	C	C	T	rs376147382		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:183664526C>T	ENST00000511685.1	+	19	3706	c.3583C>T	c.(3583-3585)Cgg>Tgg	p.R1195W	TENM3_ENST00000406950.2_Missense_Mutation_p.R1195W|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1195					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R1195W(2)									CAACTATGTGCGGCGGATATT	0.453																																					p.R1195W												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C3583T	4						.	C	TRP/ARG	0,3886		0,0,1943	98.0	100.0	99.0		3583	4.6	1.0	4		99	1,8283		0,1,4141	no	missense	ODZ3	NM_001080477.1	101	0,1,6084	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	1195/2700	183664526	1,12169	1943	4142	6085	183901520	SO:0001583	missense	55714	exon18			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3583C>T	4.37:g.183664526C>T	ENSP00000424226:p.Arg1195Trp		183901520	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679471	0.47886	0.0	1.21E-4	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90620	-2.7;-2.7	5.49	4.64	0.57946	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.95940	0.8678	M	0.90650	3.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.96644	0.9476	9	0.62326	D	0.03	.	15.7813	0.78264	0.1373:0.8627:0.0:0.0	.	1195	Q9P273	TEN3_HUMAN	W	1195	ENSP00000424226:R1195W;ENSP00000385276:R1195W	ENSP00000385276:R1195W	R	+	1	2	ODZ3	183901520	0.997000	0.39634	0.998000	0.56505	0.120000	0.20174	3.642000	0.54367	1.537000	0.49254	-0.282000	0.10007	CGG		0.453	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183675727	183675727	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:183675727G>A	ENST00000511685.1	+	22	4330	c.4207G>A	c.(4207-4209)Gaa>Aaa	p.E1403K	TENM3_ENST00000406950.2_Missense_Mutation_p.E1403K|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1403					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E1403K(1)									GACAACACTGGAATCAGCCAC	0.512																																					p.E1403K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4207A	4						.						54.0	54.0	54.0					4																	183675727		2004	4176	6180	183912721	SO:0001583	missense	55714	exon21			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4207G>A	4.37:g.183675727G>A	ENSP00000424226:p.Glu1403Lys		183912721	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176318	0.57692	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90069	-2.61;-2.61	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.88540	0.6464	M	0.69248	2.105	0.80722	D	1	B	0.25667	0.131	B	0.25140	0.058	D	0.83839	0.0256	9	0.26408	T	0.33	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1403	Q9P273	TEN3_HUMAN	K	1403	ENSP00000424226:E1403K;ENSP00000385276:E1403K	ENSP00000385276:E1403K	E	+	1	0	ODZ3	183912721	1.000000	0.71417	0.999000	0.59377	0.079000	0.17450	7.674000	0.83992	2.941000	0.99782	0.655000	0.94253	GAA		0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TENM3	55714	broad.mit.edu	37	4	183676246	183676246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:183676246C>T	ENST00000511685.1	+	22	4849	c.4726C>T	c.(4726-4728)Cga>Tga	p.R1576*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.R1576*|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1576					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R1576*(1)									CATGCCAGTTCGAGTGGTGTC	0.408																																					p.R1576X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4726T	4						.						110.0	110.0	110.0					4																	183676246		1975	4167	6142	183913240	SO:0001587	stop_gained	55714	exon21			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4726C>T	4.37:g.183676246C>T	ENSP00000424226:p.Arg1576*		183913240	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Nonsense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	43	10.472053	0.99411	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	.	.	.	5.29	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	11.1924	0.48693	0.3526:0.6474:0.0:0.0	.	.	.	.	X	1576	.	ENSP00000385276:R1576X	R	+	1	2	ODZ3	183913240	0.997000	0.39634	0.641000	0.29422	0.983000	0.72400	3.599000	0.54045	2.743000	0.94032	0.563000	0.77884	CGA		0.408	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TRAPPC11	60684	broad.mit.edu	37	4	184615778	184615778	+	Missense_Mutation	SNP	C	C	T	rs149626892	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:184615778C>T	ENST00000334690.6	+	23	2732	c.2530C>T	c.(2530-2532)Cgc>Tgc	p.R844C	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.R450C|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.R844C	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	844					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.R844C(1)									GTTGTATGTTCGCTGTGGAAC	0.313																																					p.R844C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2530T	4						.						59.0	59.0	59.0					4																	184615778		2203	4294	6497	184852772	SO:0001583	missense	60684	exon23				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2530C>T	4.37:g.184615778C>T	ENSP00000335371:p.Arg844Cys		184852772	NM_199053	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595779	0.46318	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.29	5.29	0.74685	.	0.110269	0.64402	D	0.000016	T	0.43722	0.1260	N	0.25647	0.755	0.54753	D	0.999989	B;B;B;B	0.27140	0.169;0.017;0.019;0.007	B;B;B;B	0.20767	0.031;0.005;0.008;0.005	T	0.40289	-0.9571	9	0.54805	T	0.06	.	12.45	0.55671	0.0:0.9239:0.0:0.0761	.	575;450;844;844	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	C	844;844;844;450	.	ENSP00000335371:R844C	R	+	1	0	C4orf41	184852772	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	3.730000	0.55006	2.753000	0.94483	0.467000	0.42956	CGC		0.313	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942	
ACSL1	2180	broad.mit.edu	37	4	185679022	185679022	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:185679022G>A	ENST00000515030.1	-	19	2160	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	ACSL1_ENST00000281455.2_Missense_Mutation_p.A612V|ACSL1_ENST00000454703.2_Missense_Mutation_p.A441V|ACSL1_ENST00000507295.1_Missense_Mutation_p.A578V|ACSL1_ENST00000437665.3_Missense_Mutation_p.A441V|ACSL1_ENST00000504342.1_Missense_Mutation_p.A612V|ACSL1_ENST00000513317.1_Missense_Mutation_p.A612V			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	612					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.A612V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTCTTTTGGGCCCAGGAACA	0.408																																					p.A612V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1835T	4						.						177.0	172.0	174.0					4																	185679022		2203	4300	6503	185916016	SO:0001583	missense	2180	exon19			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1835C>T	4.37:g.185679022G>A	ENSP00000422607:p.Ala612Val		185916016	NM_001995	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207461	0.39003	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.69	5.69	0.88448	.	0.312221	0.39615	N	0.001301	T	0.45458	0.1343	M	0.91663	3.23	0.58432	D	0.999997	P;B;B;P	0.41420	0.749;0.442;0.442;0.577	B;B;B;B	0.40506	0.103;0.178;0.178;0.331	T	0.58567	-0.7614	10	0.62326	D	0.03	-14.3279	19.8273	0.96622	0.0:0.0:1.0:0.0	.	578;612;612;602	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	V	441;612;208;612;578;441;612;612	ENSP00000407165:A441V;ENSP00000422607:A612V;ENSP00000425098:A208V;ENSP00000281455:A612V;ENSP00000426244:A578V;ENSP00000405687:A441V;ENSP00000425006:A612V;ENSP00000426150:A612V	ENSP00000281455:A612V	A	-	2	0	ACSL1	185916016	1.000000	0.71417	0.980000	0.43619	0.182000	0.23217	5.639000	0.67868	2.684000	0.91462	0.655000	0.94253	GCC		0.408	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	
ACSL1	2180	broad.mit.edu	37	4	185724635	185724635	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:185724635T>C	ENST00000515030.1	-	2	359	c.34A>G	c.(34-36)Atg>Gtg	p.M12V	ACSL1_ENST00000281455.2_Missense_Mutation_p.M12V|ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000507295.1_Missense_Mutation_p.M12V|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504342.1_Missense_Mutation_p.M12V|ACSL1_ENST00000504900.1_Missense_Mutation_p.M12V|ACSL1_ENST00000513317.1_Missense_Mutation_p.M12V			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	12					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.M12V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGCTCTGGCATTCGAAAATAC	0.502																																					p.M12V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A34G	4						.						151.0	112.0	126.0					4																	185724635		2203	4300	6503	185961629	SO:0001583	missense	2180	exon2			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.34A>G	4.37:g.185724635T>C	ENSP00000422607:p.Met12Val		185961629	NM_001995	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.080956	0.36758	.	.	ENSG00000151726	ENST00000515030;ENST00000281455;ENST00000507295;ENST00000504342;ENST00000513317;ENST00000504900	T;T;T;T;T;T	0.19250	2.23;2.23;2.18;2.23;2.16;2.39	5.04	1.0	0.19881	.	0.293916	0.43919	D	0.000516	T	0.16599	0.0399	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.12013	0.001;0.0;0.005;0.001	B;B;B;B	0.10450	0.002;0.002;0.005;0.001	T	0.05419	-1.0886	10	0.54805	T	0.06	-13.874	7.2416	0.26100	0.2425:0.0:0.1316:0.6258	.	12;12;12;12	E7EPM6;B7Z452;D6RER0;P33121	.;.;.;ACSL1_HUMAN	V	12	ENSP00000422607:M12V;ENSP00000281455:M12V;ENSP00000426244:M12V;ENSP00000425006:M12V;ENSP00000426150:M12V;ENSP00000424935:M12V	ENSP00000281455:M12V	M	-	1	0	ACSL1	185961629	1.000000	0.71417	0.964000	0.40570	0.999000	0.98932	1.390000	0.34464	0.032000	0.15435	0.533000	0.62120	ATG		0.502	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2	NM_001995	
CFAP97	57587	broad.mit.edu	37	4	186111665	186111665	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:186111665G>A	ENST00000458385.2	-	2	805	c.686C>T	c.(685-687)tCg>tTg	p.S229L	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S229L|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S229L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		229	Ser-rich.							p.S229L(1)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TGTTTCTGTCGATTTTATTCC	0.418																																					p.S229L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C686T	4						.						168.0	155.0	159.0					4																	186111665		1920	4139	6059	186348659	SO:0001583	missense	57587	exon2																														ENST00000458385.2:c.686C>T	4.37:g.186111665G>A	ENSP00000409964:p.Ser229Leu		186348659	NM_020827	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	2.160	-0.392500	0.04899	.	.	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775	T;T;T	0.45668	1.39;0.89;0.89	5.18	1.5	0.22942	.	0.921953	0.09073	N	0.852565	T	0.36082	0.0954	L	0.50333	1.59	0.09310	N	1	B;B	0.21821	0.061;0.034	B;B	0.15052	0.012;0.005	T	0.27297	-1.0078	10	0.24483	T	0.36	-1.8623	10.6393	0.45584	0.3639:0.0:0.6361:0.0	.	229;229	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	L	229	ENSP00000409964:S229L;ENSP00000423312:S229L;ENSP00000296775:S229L	ENSP00000296775:S229L	S	-	2	0	KIAA1430	186348659	0.566000	0.26618	0.021000	0.16686	0.001000	0.01503	1.618000	0.36954	0.301000	0.22738	-0.126000	0.14955	TCG		0.418	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2		
CFAP97	57587	broad.mit.edu	37	4	186112193	186112193	+	Missense_Mutation	SNP	G	G	A	rs373566490		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:186112193G>A	ENST00000458385.2	-	2	277	c.158C>T	c.(157-159)tCg>tTg	p.S53L	KIAA1430_ENST00000296775.6_Missense_Mutation_p.S53L|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S53L	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		53								p.S53L(1)		endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		TCCAGTGTTCGAATTTACATT	0.343																																					p.S53L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158T	4						.	G	LEU/SER	2,3646		0,2,1822	115.0	101.0	105.0		158	2.9	0.0	4		105	0,8156		0,0,4078	no	missense	KIAA1430	NM_020827.1	145	0,2,5900	AA,AG,GG		0.0,0.0548,0.0169	benign	53/533	186112193	2,11802	1824	4078	5902	186349187	SO:0001583	missense	57587	exon2																														ENST00000458385.2:c.158C>T	4.37:g.186112193G>A	ENSP00000409964:p.Ser53Leu		186349187	NM_020827	B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Missense_Mutation	SNP	ENST00000458385.2	37	CCDS47168.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.386832	0.01194	5.48E-4	0.0	ENSG00000164323	ENST00000458385;ENST00000514798;ENST00000296775;ENST00000503223	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.46	2.86	0.33363	.	1.191590	0.06039	N	0.654595	T	0.11367	0.0277	N	0.00138	-2.015	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18935	-1.0321	10	0.07175	T	0.84	0.4491	9.94	0.41574	0.86:0.0:0.14:0.0	.	53;53	Q9P2B7-2;Q9P2B7	.;K1430_HUMAN	L	53	ENSP00000409964:S53L;ENSP00000423312:S53L;ENSP00000296775:S53L;ENSP00000420832:S53L	ENSP00000296775:S53L	S	-	2	0	KIAA1430	186349187	0.000000	0.05858	0.016000	0.15963	0.002000	0.02628	0.152000	0.16302	0.440000	0.26502	-0.290000	0.09829	TCG		0.343	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360717.2		
UFSP2	55325	broad.mit.edu	37	4	186336373	186336373	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:186336373T>G	ENST00000264689.6	-	6	736	c.620A>C	c.(619-621)aAa>aCa	p.K207T	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'Flank	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	207						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)	p.K207T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TACAAGATTTTTTTTCCCTGG	0.343																																					p.K207T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A620C	4						.						65.0	66.0	66.0					4																	186336373		2203	4299	6502	186573367	SO:0001583	missense	55325	exon6			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.620A>C	4.37:g.186336373T>G	ENSP00000264689:p.Lys207Thr		186573367	NM_018359	Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.59|10.59	1.391695|1.391695	0.25118|0.25118	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689	T|T	0.42513|0.31247	0.97|1.5	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.319429|0.319429	0.34555|0.34555	N|N	0.003869|0.003869	T|T	0.26340|0.26340	0.0643|0.0643	L|L	0.40543|0.40543	1.245|1.245	0.23577|0.23577	N|N	0.997376|0.997376	.|B;B	.|0.21520	.|0.057;0.009	.|B;B	.|0.16722	.|0.016;0.009	T|T	0.13980|0.13980	-1.0489|-1.0489	8|10	0.28530|0.15952	T|T	0.3|0.53	-18.7143|-18.7143	15.8044|15.8044	0.78481|0.78481	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|207;107	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	N|T	120|207	ENSP00000425855:K120N|ENSP00000264689:K207T	ENSP00000425855:K120N|ENSP00000264689:K207T	K|K	-|-	3|2	2|0	UFSP2|UFSP2	186573367|186573367	0.180000|0.180000	0.23148|0.23148	0.093000|0.093000	0.20910|0.20910	0.974000|0.974000	0.67602|0.67602	1.248000|1.248000	0.32827|0.32827	2.212000|2.212000	0.71576|0.71576	0.528000|0.528000	0.53228|0.53228	AAA|AAA		0.343	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2	NM_018359	
FAM149A	25854	broad.mit.edu	37	4	187088351	187088351	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:187088351G>A	ENST00000356371.5	+	13	2183	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q	FAM149A_ENST00000503432.1_Missense_Mutation_p.R437Q|FAM149A_ENST00000227065.4_Missense_Mutation_p.R437Q|FAM149A_ENST00000389354.5_Missense_Mutation_p.R437Q|FAM149A_ENST00000502970.1_Missense_Mutation_p.R437Q|FAM149A_ENST00000514153.1_Missense_Mutation_p.R437Q			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	728								p.R437Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GATACGCCTCGAAAAAGTTCA	0.353																																					p.R437Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1310A	4						.						124.0	125.0	125.0					4																	187088351		2203	4300	6503	187325345	SO:0001583	missense	25854	exon12			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2183G>A	4.37:g.187088351G>A	ENSP00000348732:p.Arg728Gln		187325345	NM_001006655	B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.669|9.669	1.146156|1.146156	0.21288|0.21288	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.|T;T;T;T;T;T	.|0.12147	.|2.77;2.71;2.77;2.77;2.77;2.77	5.62|5.62	4.66|4.66	0.58398|0.58398	.|.	.|0.370287	.|0.25813	.|N	.|0.028134	T|T	0.19765|0.19765	0.0475|0.0475	L|L	0.43923|0.43923	1.385|1.385	0.24406|0.24406	N|N	0.99468|0.99468	.|D;P	.|0.76494	.|0.999;0.751	.|P;B	.|0.62649	.|0.905;0.066	T|T	0.19321|0.19321	-1.0309|-1.0309	5|10	.|0.25751	.|T	.|0.34	-7.0916|-7.0916	4.444|4.444	0.11588|0.11588	0.2937:0.0:0.7063:0.0|0.2937:0.0:0.7063:0.0	.|.	.|727;728	.|A5PLN7-3;A5PLN7	.|.;F149A_HUMAN	K|Q	115|437;728;437;437;437;437	.|ENSP00000426835:R437Q;ENSP00000348732:R728Q;ENSP00000227065:R437Q;ENSP00000427155:R437Q;ENSP00000424380:R437Q;ENSP00000374005:R437Q	.|ENSP00000227065:R437Q	E|R	+|+	1|2	0|0	FAM149A|FAM149A	187325345|187325345	0.018000|0.018000	0.18449|0.18449	0.961000|0.961000	0.40146|0.40146	0.039000|0.039000	0.13416|0.13416	1.680000|1.680000	0.37607|0.37607	2.652000|2.652000	0.90054|0.90054	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.353	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655	
KLKB1	3818	broad.mit.edu	37	4	187171545	187171545	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:187171545C>T	ENST00000264690.6	+	7	934	c.747C>T	c.(745-747)atC>atT	p.I249I	KLKB1_ENST00000513864.1_Silent_p.I249I	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	249	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.I249I(4)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TATGGAAAATCGAGTCACAAA	0.448																																					p.I249I												.	.	4	Substitution - coding silent(4)	large_intestine(2)|central_nervous_system(2)	c.C747T	4						.						141.0	126.0	131.0					4																	187171545		2203	4300	6503	187408539	SO:0001819	synonymous_variant	3818	exon7			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.747C>T	4.37:g.187171545C>T			187408539	NM_000892	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Silent	SNP	ENST00000264690.6	37	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	c	3.852	-0.031712	0.07543	.	.	ENSG00000164344	ENST00000511608	.	.	.	4.94	-0.868	0.10652	.	.	.	.	.	T	0.28928	0.0718	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.28964	-1.0027	4	.	.	.	.	6.2501	0.20842	0.6081:0.2535:0.1384:0.0	.	.	.	.	L	297	.	.	S	+	2	0	KLKB1	187408539	0.001000	0.12720	0.003000	0.11579	0.016000	0.09150	0.923000	0.28757	-0.234000	0.09782	-0.438000	0.05819	TCG		0.448	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
KLKB1	3818	broad.mit.edu	37	4	187178496	187178496	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:187178496G>T	ENST00000264690.6	+	14	1889	c.1702G>T	c.(1702-1704)Gaa>Taa	p.E568*	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	568	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.E568*(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TGGCTATAAAGAAGGGGGAAA	0.323																																					p.E568X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1702T	4						.						100.0	119.0	113.0					4																	187178496		2201	4297	6498	187415490	SO:0001587	stop_gained	3818	exon14			M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1702G>T	4.37:g.187178496G>T	ENSP00000264690:p.Glu568*		187415490	NM_000892	A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Nonsense_Mutation	SNP	ENST00000264690.6	37	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.845051|5.845051	0.97016|0.97016	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000264690|ENST00000511608	.|D	.|0.89270	.|-2.49	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.159033|.	0.45361|.	D|.	0.000365|.	.|D	.|0.91686	.|0.7372	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.89878	.|0.4028	.|6	0.44086|0.35671	T|T	0.13|0.21	.|.	15.8681|15.8681	0.79080|0.79080	0.0:0.1347:0.8653:0.0|0.0:0.1347:0.8653:0.0	.|.	.|.	.|.	.|.	X|N	568|615	.|ENSP00000426629:K615N	ENSP00000264690:E568X|ENSP00000426629:K615N	E|K	+|+	1|3	0|2	KLKB1|KLKB1	187415490|187415490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	5.528000|5.528000	0.67129|0.67129	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	GAA|AAG		0.323	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
FAT1	2195	broad.mit.edu	37	4	187510153	187510153	+	Missense_Mutation	SNP	C	C	T	rs367799188		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:187510153C>T	ENST00000441802.2	-	27	13569	c.13360G>A	c.(13360-13362)Gaa>Aaa	p.E4454K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4454					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E4454K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCTGAATTCGGGCGGTAAC	0.527										HNSCC(5;0.00058)																											p.E4454K	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G13360A	4						.	C	LYS/GLU	0,3870		0,0,1935	237.0	239.0	238.0		13360	5.4	0.2	4		238	1,8265		0,1,4132	no	missense	FAT1	NM_005245.3	56	0,1,6067	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	4454/4589	187510153	1,12135	1935	4133	6068	187747147	SO:0001583	missense	2195	exon27			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13360G>A	4.37:g.187510153C>T	ENSP00000406229:p.Glu4454Lys		187747147	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.688735|3.688735	0.68271|0.68271	0.0|0.0	1.21E-4|1.21E-4	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772;ENST00000507105	T|.	0.41400|.	1.0|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74107|0.74107	0.3673|0.3673	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.70999|0.70999	-0.4719|-0.4719	10|5	0.42905|.	T|.	0.14|.	.|.	19.3098|19.3098	0.94182|0.94182	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4454|.	Q14517|.	FAT1_HUMAN|.	K|Q	4454;4456|233;221	ENSP00000406229:E4454K|.	ENSP00000260147:E4456K|.	E|R	-|-	1|2	0|0	FAT1|FAT1	187747147|187747147	1.000000|1.000000	0.71417|0.71417	0.163000|0.163000	0.22734|0.22734	0.033000|0.033000	0.12548|0.12548	7.111000|7.111000	0.77077|0.77077	2.800000|2.800000	0.96347|0.96347	0.455000|0.455000	0.32223|0.32223	GAA|CGA		0.527	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FAT1	2195	broad.mit.edu	37	4	187517920	187517920	+	Silent	SNP	C	C	T	rs370465267		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:187517920C>T	ENST00000441802.2	-	25	12983	c.12774G>A	c.(12772-12774)ccG>ccA	p.P4258P	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4258					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P4258P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGGAATACTCGGGGTGTAGG	0.468										HNSCC(5;0.00058)																											p.P4258P	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12774A	4						.	C		1,3805		0,1,1902	71.0	72.0	72.0		12774	-1.9	1.0	4		72	1,8257		0,1,4128	no	coding-synonymous	FAT1	NM_005245.3		0,2,6030	TT,TC,CC		0.0121,0.0263,0.0166		4258/4589	187517920	2,12062	1903	4129	6032	187754914	SO:0001819	synonymous_variant	2195	exon25			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12774G>A	4.37:g.187517920C>T			187754914	NM_005245		Silent	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	4.484	0.089813	0.08632	2.63E-4	1.21E-4	ENSG00000083857	ENST00000512772	.	.	.	5.39	-1.9	0.07665	.	.	.	.	.	T	0.49949	0.1587	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	.	6.0098	0.19569	0.0:0.2002:0.3688:0.4311	.	.	.	.	K	26	.	.	E	-	1	0	FAT1	187754914	0.997000	0.39634	0.992000	0.48379	0.407000	0.30961	0.193000	0.17116	-0.343000	0.08351	-0.474000	0.04947	GAG		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
ZNF721	170960	broad.mit.edu	37	4	435668	435668	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:435668T>G	ENST00000338977.5	-	2	2600	c.2552A>C	c.(2551-2553)aAa>aCa	p.K851T	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.K863T|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	851					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K863T(1)|p.K633T(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTGTAGGGTTTCTCTCCAGT	0.408																																					p.K863T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2588C	4						.						59.0	64.0	63.0					4																	435668		2108	4243	6351	425668	SO:0001583	missense	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2552A>C	4.37:g.435668T>G	ENSP00000340524:p.Lys851Thr		425668	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	T	14.02	2.411177	0.42817	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.24908	1.83;1.83	0.499	0.499	0.16914	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48259	0.1490	M	0.85299	2.745	0.23416	N	0.997727	P;D;D	0.54397	0.902;0.966;0.958	D;D;D	0.74674	0.941;0.984;0.973	T	0.23583	-1.0184	9	0.72032	D	0.01	.	5.2826	0.15684	0.0:1.0E-4:0.0:0.9999	.	851;863;863	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	T	851;863	ENSP00000340524:K851T;ENSP00000428878:K863T	ENSP00000340524:K851T	K	-	2	0	ZNF721	425668	0.140000	0.22579	0.258000	0.24420	0.527000	0.34593	-0.173000	0.09854	0.435000	0.26365	0.163000	0.16589	AAA		0.408	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
ZNF721	170960	broad.mit.edu	37	4	435938	435938	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:435938T>G	ENST00000338977.5	-	2	2330	c.2282A>C	c.(2281-2283)aAa>aCa	p.K761T	ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.K773T|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	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)	p.K543T(1)|p.K773T(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGTATGAATTTTCTCATGTCT	0.358																																					p.K773T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2318C	4						.						42.0	45.0	44.0					4																	435938		2065	4223	6288	425938	SO:0001583	missense	170960	exon3			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2282A>C	4.37:g.435938T>G	ENSP00000340524:p.Lys761Thr		425938	NM_133474	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	T	6.295	0.422518	0.11928	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.24908	1.83;1.83	1.28	-0.223	0.13118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31702	0.0805	L	0.37800	1.135	0.09310	N	1	P;D;D	0.56287	0.807;0.975;0.968	D;D;D	0.74023	0.932;0.982;0.969	T	0.17258	-1.0375	9	0.66056	D	0.02	.	1.5356	0.02544	0.3042:0.2314:0.0:0.4644	.	761;773;773	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	T	761;773	ENSP00000340524:K761T;ENSP00000428878:K773T	ENSP00000340524:K761T	K	-	2	0	ZNF721	425938	0.000000	0.05858	0.003000	0.11579	0.079000	0.17450	-3.308000	0.00518	-0.252000	0.09528	0.155000	0.16302	AAA		0.358	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474	
GAK	2580	broad.mit.edu	37	4	844846	844846	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:844846C>T	ENST00000314167.4	-	26	3645	c.3535G>A	c.(3535-3537)Gac>Aac	p.D1179N	GAK_ENST00000511163.1_Missense_Mutation_p.D1100N|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1179					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCTTCAAAGTCGTTCTCAGAG	0.468																																					p.D1179N												.	.	0			c.G3535A	4						.						146.0	140.0	142.0					4																	844846		2203	4300	6503	834846	SO:0001583	missense	2580	exon26			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3535G>A	4.37:g.844846C>T	ENSP00000314499:p.Asp1179Asn		834846	NM_005255	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600214	0.87055	.	.	ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163	T;T	0.47869	0.83;0.83	5.41	5.41	0.78517	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	L	0.48642	1.525	0.80722	D	1	P;D;P;P	0.89917	0.861;1.0;0.861;0.861	B;D;P;B	0.85130	0.427;0.997;0.525;0.352	T	0.54708	-0.8253	10	0.25106	T	0.35	-42.7532	16.6821	0.85295	0.0:1.0:0.0:0.0	.	1081;1100;1179;1064	B4DS37;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	N	455;1179;1100	ENSP00000314499:D1179N;ENSP00000421361:D1100N	ENSP00000314499:D1179N	D	-	1	0	GAK	834846	1.000000	0.71417	0.947000	0.38551	0.875000	0.50365	4.745000	0.62125	2.527000	0.85204	0.655000	0.94253	GAC		0.468	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	
GAK	2580	broad.mit.edu	37	4	845593	845593	+	Silent	SNP	C	C	T	rs377418158		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:845593C>T	ENST00000314167.4	-	25	3563	c.3453G>A	c.(3451-3453)tcG>tcA	p.S1151S	GAK_ENST00000511163.1_Silent_p.S1072S|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1151					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S1151S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTGAAGTTCGAGGCATAGT	0.667																																					p.S1151S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3453A	4						.	C		0,4406		0,0,2203	40.0	45.0	43.0		3453	-9.7	0.0	4		43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GAK	NM_005255.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1151/1312	845593	1,13003	2203	4299	6502	835593	SO:0001819	synonymous_variant	2580	exon25			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3453G>A	4.37:g.845593C>T			835593	NM_005255	Q5U4P5|Q9BVY6	Silent	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566622	0.03910	0.0	1.16E-4	ENSG00000178950	ENST00000511980	.	.	.	4.84	-9.68	0.00528	.	.	.	.	.	T	0.40909	0.1136	.	.	.	0.48452	D	0.999653	.	.	.	.	.	.	T	0.51624	-0.8682	4	.	.	.	-3.5356	4.0179	0.09652	0.142:0.4583:0.1078:0.292	.	.	.	.	Q	307	.	.	R	-	2	0	GAK	835593	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-2.579000	0.00907	-3.608000	0.00133	-1.240000	0.01540	CGA		0.667	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	
WHSC1	7468	broad.mit.edu	37	4	1952841	1952841	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:1952841G>A	ENST00000382895.3	+	12	2355	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	WHSC1_ENST00000382888.3_5'Flank|WHSC1_ENST00000382892.2_Missense_Mutation_p.E642K|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.E642K|WHSC1_ENST00000508803.1_Missense_Mutation_p.E642K	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	642					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E642K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTCCCCATACGAAAGTGCAGA	0.537			T	IGH@	MM																																p.E642K			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1924A	4						.						109.0	93.0	99.0					4																	1952841		2203	4300	6503	1922639	SO:0001583	missense	7468	exon11			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1924G>A	4.37:g.1952841G>A	ENSP00000372351:p.Glu642Lys		1922639	NM_133331	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.677124|4.677124	0.88445|0.88445	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895|ENST00000514329	D;D;D;D|.	0.95069|.	-3.6;-3.6;-3.6;-3.6|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.64402|.	D|.	0.000017|.	T|T	0.70237|0.70237	0.3201|0.3201	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	P|.	0.55222|.	0.771|.	T|T	0.64892|0.64892	-0.6300|-0.6300	10|5	0.26408|.	T|.	0.33|.	.|.	19.9832|19.9832	0.97338|0.97338	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	642|.	O96028|.	NSD2_HUMAN|.	K|Q	642|54	ENSP00000423972:E642K;ENSP00000372347:E642K;ENSP00000372348:E642K;ENSP00000372351:E642K|.	ENSP00000372347:E642K|.	E|R	+|+	1|2	0|0	WHSC1|WHSC1	1922639|1922639	1.000000|1.000000	0.71417|0.71417	0.884000|0.884000	0.34674|0.34674	0.828000|0.828000	0.46876|0.46876	7.049000|7.049000	0.76613|0.76613	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.537	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
NELFA	7469	broad.mit.edu	37	4	1993346	1993346	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:1993346T>A	ENST00000411638.2	-	2	322	c.307A>T	c.(307-309)Aca>Tca	p.T103S	NELFA_ENST00000542778.1_Intron|NELFA_ENST00000382882.3_Missense_Mutation_p.T114S	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	103					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										AGCGAGCCTGTGTCCGGAAAG	0.532																																					p.T114S												.	.	0			c.A340T	4						.						113.0	122.0	119.0					4																	1993346		2203	4300	6503	1963144	SO:0001583	missense	7469	exon2			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.307A>T	4.37:g.1993346T>A	ENSP00000399165:p.Thr103Ser		1963144	NM_005663	A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37		.	.	.	.	.	.	.	.	.	.	T	10.75	1.439078	0.25900	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000411638;ENST00000431323;ENST00000455762	T;T;T;T	0.50548	1.58;0.74;1.58;1.58	5.29	1.15	0.20763	.	0.096180	0.64402	N	0.000001	T	0.33177	0.0854	L	0.39397	1.21	0.80722	D	1	B	0.16603	0.018	B	0.14578	0.011	T	0.09465	-1.0673	10	0.48119	T	0.1	-22.7553	5.9999	0.19515	0.2531:0.0704:0.0:0.6765	.	103	Q9H3P2	NELFA_HUMAN	S	114;107;103;119;33	ENSP00000372335:T114S;ENSP00000387647:T107S;ENSP00000399165:T103S;ENSP00000395761:T119S	ENSP00000372335:T114S	T	-	1	0	WHSC2	1963144	1.000000	0.71417	0.084000	0.20598	0.058000	0.15608	3.932000	0.56537	0.307000	0.22880	0.379000	0.24179	ACA		0.532	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663	
HAUS3	79441	broad.mit.edu	37	4	2233755	2233755	+	Nonsense_Mutation	SNP	C	C	A	rs200438056		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:2233755C>A	ENST00000243706.4	-	5	1940	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	HAUS3_ENST00000506763.1_Intron|HAUS3_ENST00000443786.2_Nonsense_Mutation_p.E571*|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|POLN_ENST00000382865.1_5'Flank	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	571					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.E571*(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACATAGAATTCTCTTTCCATT	0.284													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12774	0.0		0.0	False		,,,				2504	0.0				p.E571X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1711T	4						.						32.0	33.0	32.0					4																	2233755		2179	4257	6436	2203553	SO:0001587	stop_gained	79441	exon5			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1711G>T	4.37:g.2233755C>A	ENSP00000243706:p.Glu571*		2203553	NM_024511	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Nonsense_Mutation	SNP	ENST00000243706.4	37	CCDS33941.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	39	7.732778	0.98459	.	.	ENSG00000214367	ENST00000243706;ENST00000443786	.	.	.	6.03	1.72	0.24424	.	0.321355	0.28583	U	0.014837	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-43.3503	1.6446	0.02759	0.2361:0.3765:0.2247:0.1628	.	.	.	.	X	571	.	ENSP00000243706:E571X	E	-	1	0	HAUS3	2203553	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.336000	0.19823	0.278000	0.22164	0.557000	0.71058	GAA		0.284	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511	
HAUS3	79441	broad.mit.edu	37	4	2237971	2237971	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:2237971A>C	ENST00000243706.4	-	4	1791	c.1562T>G	c.(1561-1563)cTt>cGt	p.L521R	HAUS3_ENST00000506763.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.L521R|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	521					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.L521R(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTAAGCAAAAGCTGATTTCC	0.343																																					p.L521R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1562G	4						.						94.0	88.0	90.0					4																	2237971		2203	4300	6503	2207769	SO:0001583	missense	79441	exon4			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"""HAUS augmin-like complex subunits"""	28719	protein-coding gene	gene with protein product		613430	"""chromosome 4 open reading frame 15"""	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1562T>G	4.37:g.2237971A>C	ENSP00000243706:p.Leu521Arg		2207769	NM_024511	B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	ENST00000243706.4	37	CCDS33941.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355667	0.61293	.	.	ENSG00000214367	ENST00000243706;ENST00000443786	T;T	0.56611	0.45;0.45	5.71	4.53	0.55603	.	0.400209	0.22840	U	0.054996	T	0.63094	0.2482	M	0.63843	1.955	0.38358	D	0.944534	D	0.55385	0.971	P	0.62813	0.907	T	0.61749	-0.6999	10	0.16896	T	0.51	-40.2083	10.8954	0.47019	0.9265:0.0:0.0735:0.0	.	521	Q68CZ6	HAUS3_HUMAN	R	521	ENSP00000243706:L521R;ENSP00000392903:L521R	ENSP00000243706:L521R	L	-	2	0	HAUS3	2207769	1.000000	0.71417	0.989000	0.46669	0.945000	0.59286	4.694000	0.61760	0.996000	0.38943	0.528000	0.53228	CTT		0.343	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357446.1	NM_024511	
TNIP2	79155	broad.mit.edu	37	4	2749425	2749425	+	Missense_Mutation	SNP	C	C	T	rs539733626	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:2749425C>T	ENST00000315423.7	-	2	610	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	TNIP2_ENST00000505186.1_5'Flank|TNIP2_ENST00000510267.1_Missense_Mutation_p.R68Q|TNIP2_ENST00000503235.1_Missense_Mutation_p.R175Q	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2									p.R175Q(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATGCTGTCGTTCATCCAG	0.602													c|||	2	0.000399361	0.0008	0.0	5008	,	,		18379	0.0		0.001	False		,,,				2504	0.0				p.R175Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G524A	4						.						230.0	194.0	206.0					4																	2749425		2203	4300	6503	2719223	SO:0001583	missense	79155	exon2			BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.524G>A	4.37:g.2749425C>T	ENSP00000321203:p.Arg175Gln		2719223	NM_024309		Missense_Mutation	SNP	ENST00000315423.7	37	CCDS3362.1	.	.	.	.	.	.	.	.	.	.	c	13.29	2.194452	0.38806	.	.	ENSG00000168884	ENST00000510267;ENST00000315423;ENST00000503235	T;T;T	0.43294	0.95;2.01;2.01	3.81	-3.84	0.04256	.	1.774440	0.02560	N	0.096618	T	0.24699	0.0599	L	0.41824	1.3	0.09310	N	1	B;B	0.33940	0.433;0.01	B;B	0.19946	0.027;0.001	T	0.06844	-1.0804	10	0.13470	T	0.59	-0.7961	3.7709	0.08642	0.1255:0.1603:0.1241:0.59	.	175;175	D6RGJ2;Q8NFZ5	.;TNIP2_HUMAN	Q	68;175;175	ENSP00000427613:R68Q;ENSP00000321203:R175Q;ENSP00000426314:R175Q	ENSP00000321203:R175Q	R	-	2	0	TNIP2	2719223	0.001000	0.12720	0.000000	0.03702	0.430000	0.31655	-0.737000	0.04877	-0.868000	0.04058	-0.273000	0.10243	CGA		0.602	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309	
NOP14	8602	broad.mit.edu	37	4	2959395	2959395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:2959395C>A	ENST00000314262.6	-	2	316	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	NOP14_ENST00000502735.1_Nonsense_Mutation_p.E90*|NOP14_ENST00000416614.2_Nonsense_Mutation_p.E90*|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Nonsense_Mutation_p.E90*	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	90					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.E90*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTGTTGTATTCTCCGAAGCGT	0.423																																					p.E90X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G268T	4						.						210.0	195.0	201.0					4																	2959395		2203	4300	6503	2929193	SO:0001587	stop_gained	8602	exon2			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.268G>T	4.37:g.2959395C>A	ENSP00000315674:p.Glu90*		2929193	NM_003703	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Nonsense_Mutation	SNP	ENST00000314262.6	37	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615395	0.66672	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-37.3683	18.5139	0.90928	0.0:1.0:0.0:0.0	.	.	.	.	X	90	.	ENSP00000315674:E90X	E	-	1	0	NOP14	2929193	1.000000	0.71417	0.601000	0.28877	0.091000	0.18340	7.161000	0.77505	2.535000	0.85469	0.655000	0.94253	GAA		0.423	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703	
GRK4	2868	broad.mit.edu	37	4	3015500	3015500	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:3015500A>G	ENST00000398052.4	+	8	1029	c.686A>G	c.(685-687)gAa>gGa	p.E229G	GRK4_ENST00000504933.1_Missense_Mutation_p.E229G|GRK4_ENST00000345167.6_Missense_Mutation_p.E197G|GRK4_ENST00000398051.4_Missense_Mutation_p.E197G	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.E229G(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGAAAGGTGAAGCTATGGCT	0.383																																					p.E229G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A686G	4						.						132.0	126.0	128.0					4																	3015500		2203	4300	6503	2985298	SO:0001583	missense	2868	exon8				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.686A>G	4.37:g.3015500A>G	ENSP00000381129:p.Glu229Gly		2985298	NM_182982	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225801	0.79576	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.78039	0.4221	M	0.67397	2.05	0.80722	D	1	D;P;D;D	0.76494	0.988;0.9;0.999;0.993	D;P;D;P	0.64687	0.92;0.882;0.928;0.9	T	0.80953	-0.1152	10	0.87932	D	0	-8.8486	13.3404	0.60540	1.0:0.0:0.0:0.0	.	197;197;229;229	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	G	197;229;197;229	ENSP00000381128:E197G;ENSP00000381129:E229G;ENSP00000264764:E197G;ENSP00000427445:E229G	ENSP00000264764:E197G	E	+	2	0	GRK4	2985298	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.020000	0.93667	1.746000	0.51805	0.477000	0.44152	GAA		0.383	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307	
HTT	3064	broad.mit.edu	37	4	3101035	3101035	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:3101035G>A	ENST00000355072.5	+	3	527	c.382G>A	c.(382-384)Gct>Act	p.A128T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	128					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.A128T(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTGGGCATCGCTATGGAACT	0.418																																					p.A128T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382A	4						.						115.0	113.0	114.0					4																	3101035		1983	4178	6161	3070833	SO:0001583	missense	3064	exon3			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.382G>A	4.37:g.3101035G>A	ENSP00000347184:p.Ala128Thr		3070833	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138009	0.94517	.	.	ENSG00000197386	ENST00000355072	T	0.65732	-0.17	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	L	0.49256	1.55	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.71248	-0.4649	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	128	P42858	HD_HUMAN	T	128	ENSP00000347184:A128T	ENSP00000347184:A128T	A	+	1	0	HTT	3070833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCT		0.418	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
HTT	3064	broad.mit.edu	37	4	3132048	3132048	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:3132048T>C	ENST00000355072.5	+	14	2029	c.1884T>C	c.(1882-1884)caT>caC	p.H628H		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	628					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.H628H(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AACAGGCACATTTATTGAAAA	0.348																																					p.H628H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1884C	4						.						86.0	80.0	82.0					4																	3132048		1842	4081	5923	3101846	SO:0001819	synonymous_variant	3064	exon14			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1884T>C	4.37:g.3132048T>C			3101846	NM_002111	Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.348	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
HTT	3064	broad.mit.edu	37	4	3182271	3182271	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:3182271G>A	ENST00000355072.5	+	36	4787	c.4642G>A	c.(4642-4644)Gac>Aac	p.D1548N		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1548					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.D1548N(2)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CATAGTCCACGACCTCTTTGT	0.443																																					p.D1548N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4642A	4						.						99.0	99.0	99.0					4																	3182271		1880	4100	5980	3152069	SO:0001583	missense	3064	exon36			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4642G>A	4.37:g.3182271G>A	ENSP00000347184:p.Asp1548Asn		3152069	NM_002111	Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	36	5.732026	0.96856	.	.	ENSG00000197386	ENST00000355072	T	0.06294	3.32	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00028	-1.2298	10	0.45353	T	0.12	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1548	P42858	HD_HUMAN	N	1548	ENSP00000347184:D1548N	ENSP00000347184:D1548N	D	+	1	0	HTT	3152069	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	9.858000	0.99539	2.884000	0.98904	0.655000	0.94253	GAC		0.443	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111	
RGS12	6002	broad.mit.edu	37	4	3430378	3430378	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:3430378G>T	ENST00000344733.5	+	16	4409	c.3505G>T	c.(3505-3507)Gaa>Taa	p.E1169*	RGS12_ENST00000538395.1_Intron|RGS12_ENST00000336727.3_Nonsense_Mutation_p.E1169*|RGS12_ENST00000382788.3_Nonsense_Mutation_p.E1169*|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000338806.4_Nonsense_Mutation_p.E521*	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1169					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.E1169*(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGAGAGAAGAATCTATTGC	0.338																																					p.E1169X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3505T	4						.						44.0	50.0	48.0					4																	3430378		2202	4299	6501	3400176	SO:0001587	stop_gained	6002	exon16			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3505G>T	4.37:g.3430378G>T	ENSP00000339381:p.Glu1169*		3400176	NM_002926	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Nonsense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	49	15.436129	0.99834	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	.	.	.	4.86	4.86	0.63082	.	0.508000	0.21098	N	0.080202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-31.9102	17.3603	0.87348	0.0:0.0:1.0:0.0	.	.	.	.	X	1169;1169;1169;521	.	ENSP00000338509:E1169X	E	+	1	0	RGS12	3400176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.363000	0.66104	2.401000	0.81631	0.655000	0.94253	GAA		0.338	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
STK32B	55351	broad.mit.edu	37	4	5170044	5170044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:5170044C>T	ENST00000282908.5	+	3	549	c.127C>T	c.(127-129)Cga>Tga	p.R43*	STK32B_ENST00000512636.1_5'UTR|STK32B_ENST00000510398.1_5'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.R43*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CGTGCAGAAGCGAGACACTAA	0.483																																					p.R43X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C127T	4						.						81.0	70.0	74.0					4																	5170044		2203	4300	6503	5220945	SO:0001587	stop_gained	55351	exon3			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.127C>T	4.37:g.5170044C>T	ENSP00000282908:p.Arg43*		5220945	NM_018401		Nonsense_Mutation	SNP	ENST00000282908.5	37	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	C	41	8.869165	0.98984	.	.	ENSG00000152953	ENST00000282908	.	.	.	4.96	3.02	0.34903	.	0.000000	0.38381	U	0.001706	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9523	0.47336	0.5905:0.4095:0.0:0.0	.	.	.	.	X	43	.	ENSP00000282908:R43X	R	+	1	2	STK32B	5220945	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.323000	0.52014	1.093000	0.41377	-0.127000	0.14921	CGA		0.483	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401	
EVC2	132884	broad.mit.edu	37	4	5564656	5564656	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:5564656C>A	ENST00000344408.5	-	22	3899	c.3846G>T	c.(3844-3846)gaG>gaT	p.E1282D	EVC2_ENST00000310917.2_Missense_Mutation_p.E1202D|EVC2_ENST00000344938.1_Intron	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1282					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E1282D(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCAGTGAGATCTCTGGCTCCT	0.483																																					p.E1202D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3606T	4						.						132.0	136.0	134.0					4																	5564656		2203	4300	6503	5615557	SO:0001583	missense	132884	exon22			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3846G>T	4.37:g.5564656C>A	ENSP00000342144:p.Glu1282Asp		5615557	NM_001166136	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	7.971	0.749178	0.15710	.	.	ENSG00000173040	ENST00000310917;ENST00000344408	T;T	0.74632	-0.86;-0.86	5.3	0.442	0.16582	.	0.366613	0.25823	N	0.028062	T	0.54695	0.1874	N	0.24115	0.695	0.36880	D	0.889372	B	0.33379	0.41	B	0.31946	0.138	T	0.52975	-0.8503	10	0.31617	T	0.26	-18.8654	8.8541	0.35217	0.0:0.3443:0.5635:0.0922	.	1282	Q86UK5	LBN_HUMAN	D	1202;1282	ENSP00000311683:E1202D;ENSP00000342144:E1282D	ENSP00000311683:E1202D	E	-	3	2	EVC2	5615557	0.852000	0.29690	0.987000	0.45799	0.025000	0.11179	0.409000	0.21082	0.583000	0.29574	0.655000	0.94253	GAG		0.483	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
EVC2	132884	broad.mit.edu	37	4	5620244	5620244	+	Silent	SNP	G	G	A	rs201173415		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:5620244G>A	ENST00000344408.5	-	15	2720	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	EVC2_ENST00000310917.2_Silent_p.F809F|EVC2_ENST00000344938.1_Silent_p.F889F	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	889					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F889F(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCAGCTTCACGAACTCTGCTT	0.617																																					p.F809F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2427T	4						.						52.0	50.0	51.0					4																	5620244		2203	4300	6503	5671145	SO:0001819	synonymous_variant	132884	exon15			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2667C>T	4.37:g.5620244G>A			5671145	NM_001166136	Q86YT3|Q86YT4|Q8NG49	Silent	SNP	ENST00000344408.5	37	CCDS3382.2																																																																																				0.617	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
KIAA0232	9778	broad.mit.edu	37	4	6843914	6843914	+	Nonsense_Mutation	SNP	C	C	T	rs553190523		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	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																																					p.R118X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C352T	4						.						101.0	107.0	105.0					4																	6843914		1833	4092	5925	6894815	SO:0001587	stop_gained	9778	exon4			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*		6894815	NM_014743	A7E2D2	Nonsense_Mutation	SNP	ENST00000307659.5	37	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	
TBC1D14	57533	broad.mit.edu	37	4	7006648	7006648	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:7006648G>A	ENST00000409757.4	+	8	1472	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	TBC1D14_ENST00000446947.2_Missense_Mutation_p.E63K|TBC1D14_ENST00000448507.1_Missense_Mutation_p.E450K|TBC1D14_ENST00000410031.1_Missense_Mutation_p.E222K|TBC1D14_ENST00000451522.2_Missense_Mutation_p.E170K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	450	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.E435*(1)|p.E435K(1)|p.E450*(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AGTGGAGAACGAAGGTAGAAT	0.458																																					p.E450K												.	.	3	Substitution - Nonsense(2)|Substitution - Missense(1)	lung(2)|large_intestine(1)	c.G1348A	4						.						103.0	105.0	105.0					4																	7006648		2203	4300	6503	7057549	SO:0001583	missense	57533	exon8			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1348G>A	4.37:g.7006648G>A	ENSP00000386921:p.Glu450Lys		7057549	NM_001113361	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130037	0.56721	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;3.68;3.68	5.27	5.27	0.74061	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	M	0.67517	2.055	0.80722	D	1	P;P;P	0.48089	0.727;0.589;0.905	B;B;P	0.44623	0.216;0.067;0.455	T	0.00634	-1.1634	10	0.54805	T	0.06	-27.5393	18.059	0.89371	0.0:0.0:1.0:0.0	.	63;170;450	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	K	450;450;222;170;69;63	ENSP00000404041:E450K;ENSP00000386921:E450K;ENSP00000386343:E222K;ENSP00000388886:E170K;ENSP00000389082:E69K;ENSP00000405875:E63K	ENSP00000386921:E450K	E	+	1	0	TBC1D14	7057549	1.000000	0.71417	0.963000	0.40424	0.254000	0.26022	9.031000	0.93731	2.722000	0.93159	0.655000	0.94253	GAA		0.458	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773	
CCDC96	257236	broad.mit.edu	37	4	7043265	7043265	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:7043265G>A	ENST00000310085.4	-	1	1463	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	467								p.I467I(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CCTGGGCCTCGATTTCTGCCA	0.552																																					p.I467I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1401T	4						.						214.0	212.0	213.0					4																	7043265		2203	4300	6503	7094166	SO:0001819	synonymous_variant	257236	exon1			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1401C>T	4.37:g.7043265G>A			7094166	NM_153376	Q8N2I7	Silent	SNP	ENST00000310085.4	37	CCDS3395.1																																																																																				0.552	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376	
AFAP1	60312	broad.mit.edu	37	4	7811444	7811444	+	Silent	SNP	C	C	T	rs143460564		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:7811444C>T	ENST00000360265.4	-	8	1185	c.951G>A	c.(949-951)tcG>tcA	p.S317S	AFAP1_ENST00000420658.1_Silent_p.S317S|AFAP1_ENST00000382543.3_Silent_p.S317S|AFAP1_ENST00000358461.2_Silent_p.S317S			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	317						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.S317S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CAGTGACTTTCGACACAGTGC	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18392	0.0		0.0	False		,,,				2504	0.0				p.S317S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G951A	4						.	C	,	1,4405	2.1+/-5.4	0,1,2202	142.0	127.0	132.0		951,951	-7.2	0.2	4	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AFAP1	NM_001134647.1,NM_198595.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	317/815,317/731	7811444	1,13005	2203	4300	6503	7862344	SO:0001819	synonymous_variant	60312	exon9			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.951G>A	4.37:g.7811444C>T			7862344	NM_001134647	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	CCDS3397.1																																																																																				0.428	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	
SH3TC1	54436	broad.mit.edu	37	4	8235103	8235103	+	Missense_Mutation	SNP	G	G	A	rs147442685		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:8235103G>A	ENST00000245105.3	+	14	3212	c.3145G>A	c.(3145-3147)Gca>Aca	p.A1049T	SH3TC1_ENST00000539824.1_Missense_Mutation_p.A973T	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1049										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTACAAATCCGCACTGGACTA	0.522																																					p.A1049T	NSCLC(145;2298 2623 35616 37297)											.	.	0			c.G3145A	4						.	G	THR/ALA	0,4406		0,0,2203	76.0	67.0	70.0		3145	3.7	0.2	4	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	missense	SH3TC1	NM_018986.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1049/1337	8235103	2,13004	2203	4300	6503	8286003	SO:0001583	missense	54436	exon14			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3145G>A	4.37:g.8235103G>A	ENSP00000245105:p.Ala1049Thr		8286003	NM_018986	Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172695	0.78452	0.0	2.33E-4	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265	D;D	0.93763	-3.28;-1.97	3.69	3.69	0.42338	Tetratricopeptide-like helical (1);	0.072225	0.56097	D	0.000038	D	0.95872	0.8656	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	D	0.96542	0.9401	10	0.87932	D	0	-12.2782	15.8104	0.78557	0.0:0.0:1.0:0.0	.	1049	Q8TE82	S3TC1_HUMAN	T	1049;973;878	ENSP00000245105:A1049T;ENSP00000441045:A973T	ENSP00000245105:A1049T	A	+	1	0	SH3TC1	8286003	1.000000	0.71417	0.204000	0.23530	0.725000	0.41563	3.900000	0.56295	1.951000	0.56629	0.549000	0.68633	GCA		0.522	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986	
GPR125	166647	broad.mit.edu	37	4	22463423	22463423	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:22463423C>T	ENST00000334304.5	-	3	607	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	GPR125_ENST00000502482.1_Missense_Mutation_p.R113Q	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	113					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R113Q(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAGATTGTTTCGGAGGTCCCT	0.338																																					p.R113Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G338A	4						.						61.0	64.0	63.0					4																	22463423		2203	4300	6503	22072521	SO:0001583	missense	166647	exon3			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.338G>A	4.37:g.22463423C>T	ENSP00000334952:p.Arg113Gln		22072521	NM_145290	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480378	0.63849	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	T;T	0.56776	0.44;0.44	5.71	5.71	0.89125	.	0.054599	0.64402	D	0.000001	T	0.42337	0.1198	L	0.31371	0.925	0.80722	D	1	P;P	0.46220	0.874;0.577	B;B	0.42087	0.375;0.166	T	0.42816	-0.9429	10	0.66056	D	0.02	-1.2018	10.8046	0.46509	0.0:0.9145:0.0:0.0855	.	113;113	Q8IWK6-2;Q8IWK6	.;GP125_HUMAN	Q	113	ENSP00000334952:R113Q;ENSP00000421006:R113Q	ENSP00000334952:R113Q	R	-	2	0	GPR125	22072521	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.687000	0.46976	2.709000	0.92574	0.655000	0.94253	CGA		0.338	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
GBA3	57733	broad.mit.edu	37	4	22749269	22749269	+	RNA	SNP	C	C	T	rs201515557		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:22749269C>T	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.R213*(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCTTATTTCGAAAAAAGCA	0.473																																					p.R213X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C637T	4						.						153.0	149.0	150.0					4																	22749269		1870	4095	5965	22358367			57733	exon3			AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749269C>T			22358367	NM_020973	Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Nonsense_Mutation	SNP	ENST00000503442.1	37																																																																																					0.473	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2		
CCDC149	91050	broad.mit.edu	37	4	24839881	24839881	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:24839881G>A	ENST00000389609.4	-	6	529	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Missense_Mutation_p.T129M|CCDC149_ENST00000502801.1_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	74								p.T74M(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TTTGGCAATCGTCATCCTCAA	0.453																																					p.T129M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C386T	4						.						98.0	86.0	90.0					4																	24839881		2203	4300	6503	24448979	SO:0001583	missense	91050	exon6				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.386C>T	4.37:g.24839881G>A	ENSP00000374260:p.Thr129Met		24448979	NM_173463	A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Missense_Mutation	SNP	ENST00000389609.4	37	CCDS33967.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310115	0.81358	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116;ENST00000503881	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.82829	0.5122	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.81636	-0.0843	9	0.52906	T	0.07	-18.1571	20.6721	0.99693	0.0:0.0:1.0:0.0	.	74;129	Q6ZUS6;G5EA04	CC149_HUMAN;.	M	129;129;53;74	.	ENSP00000371550:T53M	T	-	2	0	CCDC149	24448979	1.000000	0.71417	0.997000	0.53966	0.412000	0.31113	9.865000	0.99609	2.894000	0.99253	0.591000	0.81541	ACG		0.453	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	NM_173463	
ANAPC4	29945	broad.mit.edu	37	4	25390358	25390358	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:25390358A>C	ENST00000315368.3	+	6	605	c.463A>C	c.(463-465)Ata>Cta	p.I155L	ANAPC4_ENST00000510092.1_Missense_Mutation_p.I155L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	155			I -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.I155L(1)|p.I155V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CACCTCAAAAATATTTAGGTA	0.284																																					p.I155L												ANAPC4,large_intestine,colon,Substitution - Missense,0 	.	2	Substitution - Missense(2)	large_intestine(2)	c.A463C	4						.						81.0	90.0	87.0					4																	25390358		2198	4290	6488	24999456	SO:0001583	missense	29945	exon6			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.463A>C	4.37:g.25390358A>C	ENSP00000318775:p.Ile155Leu		24999456	NM_013367	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.642392	0.87859	.	.	ENSG00000053900	ENST00000315368;ENST00000510092;ENST00000505991	T;T	0.30182	1.54;1.54	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	L	0.51422	1.61	0.58432	D	0.999999	D	0.59357	0.985	D	0.67548	0.952	T	0.25882	-1.0119	10	0.10377	T	0.69	-33.3335	16.1435	0.81544	1.0:0.0:0.0:0.0	.	155	Q9UJX5	APC4_HUMAN	L	155	ENSP00000318775:I155L;ENSP00000426654:I155L	ENSP00000318775:I155L	I	+	1	0	ANAPC4	24999456	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.785000	0.75089	2.212000	0.71576	0.528000	0.53228	ATA		0.284	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	
SEL1L3	23231	broad.mit.edu	37	4	25760685	25760685	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:25760685A>C	ENST00000399878.3	-	21	3083	c.2961T>G	c.(2959-2961)ttT>ttG	p.F987L	SEL1L3_ENST00000264868.5_Missense_Mutation_p.F952L|SEL1L3_ENST00000502949.1_Missense_Mutation_p.F834L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	987						integral component of membrane (GO:0016021)		p.F834L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CCAGGTTAAAAAATCCCTAAA	0.368																																					p.F987L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2961G	4						.						107.0	105.0	105.0					4																	25760685		1843	4087	5930	25369783	SO:0001583	missense	23231	exon21			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2961T>G	4.37:g.25760685A>C	ENSP00000382767:p.Phe987Leu		25369783	NM_015187	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.99|17.99	3.523235|3.523235	0.64747|0.64747	.|.	.|.	ENSG00000091490|ENSG00000091490	ENST00000510448|ENST00000399878;ENST00000264868;ENST00000502949;ENST00000507618	T|T;T;T;T	0.51574|0.51071	0.7|0.72;0.72;0.72;0.72	5.71|5.71	3.29|3.29	0.37713|0.37713	.|Tetratricopeptide-like helical (1);	0.326243|0.326243	0.33916|0.33916	N|N	0.004435|0.004435	T|T	0.32823|0.32823	0.0842|0.0842	L|L	0.42245|0.42245	1.32|1.32	0.36205|0.36205	D|D	0.850964|0.850964	.|B;B	.|0.31599	.|0.128;0.33	.|B;B	.|0.22386	.|0.039;0.039	T|T	0.25745|0.25745	-1.0123|-1.0123	8|10	0.87932|0.25106	D|T	0|0.35	-15.9495|-15.9495	7.9672|7.9672	0.30107|0.30107	0.7159:0.0:0.2841:0.0|0.7159:0.0:0.2841:0.0	.|.	.|394;987	.|B4DTH5;Q68CR1	.|.;SE1L3_HUMAN	C|L	14|987;952;834;78	ENSP00000421701:F14C|ENSP00000382767:F987L;ENSP00000264868:F952L;ENSP00000425438:F834L;ENSP00000426050:F78L	ENSP00000421701:F14C|ENSP00000264868:F952L	F|F	-|-	2|3	0|2	SEL1L3|SEL1L3	25369783|25369783	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.605000|1.605000	0.36815|0.36815	0.443000|0.443000	0.26582|0.26582	0.533000|0.533000	0.62120|0.62120	TTT|TTT		0.368	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
CCKAR	886	broad.mit.edu	37	4	26483499	26483499	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:26483499T>C	ENST00000295589.3	-	5	1242	c.1048A>G	c.(1048-1050)Acc>Gcc	p.T350A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	350					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GAAATGGGGGTTCCTGAGAGG	0.607																																					p.T350A												.	.	0			c.A1048G	4						.						115.0	107.0	110.0					4																	26483499		2203	4300	6503	26092597	SO:0001583	missense	886	exon5			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1048A>G	4.37:g.26483499T>C	ENSP00000295589:p.Thr350Ala		26092597	NM_000730	B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	T	5.257	0.232805	0.09969	.	.	ENSG00000163394	ENST00000295589	T	0.37058	1.22	5.29	2.8	0.32819	GPCR, rhodopsin-like superfamily (1);	0.158122	0.56097	N	0.000032	T	0.10852	0.0265	N	0.01624	-0.795	0.36769	D	0.883724	B	0.02656	0.0	B	0.04013	0.001	T	0.13495	-1.0507	10	0.10377	T	0.69	.	6.1209	0.20151	0.0:0.5856:0.0:0.4144	.	350	P32238	CCKAR_HUMAN	A	350	ENSP00000295589:T350A	ENSP00000295589:T350A	T	-	1	0	CCKAR	26092597	1.000000	0.71417	0.964000	0.40570	0.868000	0.49771	3.681000	0.54648	0.344000	0.23847	0.460000	0.39030	ACC		0.607	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2		
PCDH7	5099	broad.mit.edu	37	4	30724437	30724437	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:30724437G>A	ENST00000361762.2	+	1	2401	c.1393G>A	c.(1393-1395)Gac>Aac	p.D465N	PCDH7_ENST00000543491.1_Missense_Mutation_p.D465N	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	465	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D418N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGTGGTGGGCGACGTGCCCTT	0.632																																					p.D465N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1393A	4						.						77.0	58.0	64.0					4																	30724437		2203	4300	6503	30333535	SO:0001583	missense	5099	exon1			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1393G>A	4.37:g.30724437G>A	ENSP00000355243:p.Asp465Asn		30333535	NM_032456	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.571225|4.571225	0.86542|0.86542	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.52295|.	0.67;0.67|.	5.16|5.16	5.16|5.16	0.70880|0.70880	Cadherin (4);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.52273|0.52273	0.1724|0.1724	N|N	0.16862|0.16862	0.45|0.45	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.999;1.0|.	T|T	0.46091|0.46091	-0.9216|-0.9216	9|5	0.87932|.	D|.	0|.	.|.	18.841|18.841	0.92184|0.92184	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	465;418;465|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	N|Q	465;465;418|154	ENSP00000355243:D465N;ENSP00000441802:D465N|.	ENSP00000330302:D418N|.	D|R	+|+	1|2	0|0	PCDH7|PCDH7	30333535|30333535	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	9.657000|9.657000	0.98554|0.98554	2.679000|2.679000	0.91253|0.91253	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.632	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
PCDH7	5099	broad.mit.edu	37	4	30724947	30724947	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:30724947A>G	ENST00000361762.2	+	1	2911	c.1903A>G	c.(1903-1905)Aat>Gat	p.N635D	PCDH7_ENST00000543491.1_Missense_Mutation_p.N635D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	635	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N588D(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TAAAAATGACAATGACCCTAA	0.483																																					p.N635D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1903G	4						.						117.0	121.0	119.0					4																	30724947		2203	4300	6503	30334045	SO:0001583	missense	5099	exon1			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1903A>G	4.37:g.30724947A>G	ENSP00000355243:p.Asn635Asp		30334045	NM_032456	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.24|19.24	3.790302|3.790302	0.70337|0.70337	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.65364|.	-0.15;-0.15|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.84442|0.84442	0.5473|0.5473	M|M	0.91717|0.91717	3.235|3.235	0.58432|0.58432	D|D	0.999992|0.999992	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.998|.	D|D	0.88114|0.88114	0.2827|0.2827	9|5	0.87932|.	D|.	0|.	.|.	15.5335|15.5335	0.75983|0.75983	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	635;588;635|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	D|R	635;635;588|324	ENSP00000355243:N635D;ENSP00000441802:N635D|.	ENSP00000330302:N588D|.	N|Q	+|+	1|2	0|0	PCDH7|PCDH7	30334045|30334045	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.139000|9.139000	0.94554|0.94554	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	AAT|CAA		0.483	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
C4orf19	55286	broad.mit.edu	37	4	37592140	37592140	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:37592140A>G	ENST00000284437.6	+	3	641	c.463A>G	c.(463-465)Acc>Gcc	p.T155A	RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000381980.4_Missense_Mutation_p.T155A|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	155								p.T155A(1)		large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTCAGAAGGGACCCAAGTCAT	0.532																																					p.T155A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A463G	4						.						76.0	79.0	78.0					4																	37592140		2203	4300	6503	37268535	SO:0001583	missense	55286	exon4			BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.463A>G	4.37:g.37592140A>G	ENSP00000284437:p.Thr155Ala		37268535	NM_001104629	Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521600	0.44866	.	.	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.31769	1.48;1.48	5.24	-0.558	0.11796	.	0.610655	0.15590	N	0.254452	T	0.41627	0.1167	M	0.61703	1.905	0.09310	N	1	D	0.59767	0.986	P	0.58520	0.84	T	0.32107	-0.9919	10	0.33940	T	0.23	-13.5129	10.2999	0.43646	0.3247:0.559:0.0:0.1163	.	155	Q8IY42	CD019_HUMAN	A	155	ENSP00000371408:T155A;ENSP00000284437:T155A	ENSP00000284437:T155A	T	+	1	0	C4orf19	37268535	0.000000	0.05858	0.010000	0.14722	0.004000	0.04260	-0.554000	0.06006	-0.133000	0.11537	-0.313000	0.08912	ACC		0.532	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302	
PGM2	55276	broad.mit.edu	37	4	37846147	37846147	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:37846147G>A	ENST00000381967.4	+	7	982	c.882G>A	c.(880-882)ccG>ccA	p.P294P	PGM2_ENST00000537241.1_Silent_p.P134P|PGM2_ENST00000544359.1_Silent_p.P155P	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	294					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.P294P(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TGAAATACCCGAATCCCGAAG	0.383																																					p.P294P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G882A	4						.						110.0	113.0	112.0					4																	37846147		2203	4300	6503	37522542	SO:0001819	synonymous_variant	55276	exon7			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.882G>A	4.37:g.37846147G>A			37522542	NM_018290	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	CCDS3443.1																																																																																				0.383	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290	
FAM114A1	92689	broad.mit.edu	37	4	38916686	38916686	+	Missense_Mutation	SNP	G	G	A	rs143144596		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:38916686G>A	ENST00000358869.2	+	8	1113	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	FAM114A1_ENST00000515037.1_Missense_Mutation_p.E106K	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	313						cytoplasm (GO:0005737)		p.E313K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAATGAAAGCGAAAGCAAGGT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		21159	0.0		0.001	False		,,,				2504	0.0				p.E313K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G937A	4						.	G	LYS/GLU	0,4406		0,0,2203	103.0	93.0	96.0		937	6.2	1.0	4	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM114A1	NM_138389.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	313/564	38916686	1,13005	2203	4300	6503	38593081	SO:0001583	missense	92689	exon8				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.937G>A	4.37:g.38916686G>A	ENSP00000351740:p.Glu313Lys		38593081	NM_138389	A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	CCDS3447.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.660760	0.96734	0.0	1.16E-4	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.25579	1.79;2.71	6.16	6.16	0.99307	.	0.042612	0.85682	D	0.000000	T	0.59211	0.2177	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.60939	-0.7163	10	0.72032	D	0.01	-25.3109	20.8598	0.99761	0.0:0.0:1.0:0.0	.	313	Q8IWE2	NXP20_HUMAN	K	106;313;106	ENSP00000424115:E106K;ENSP00000351740:E313K	ENSP00000347569:E106K	E	+	1	0	FAM114A1	38593081	1.000000	0.71417	0.991000	0.47740	0.894000	0.52154	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GAA		0.443	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389	
TMEM156	80008	broad.mit.edu	37	4	38972710	38972710	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:38972710G>A	ENST00000381938.3	-	6	978	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	291						integral component of membrane (GO:0016021)		p.P291S(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGAATTGGGGGAAGCACTTCC	0.403																																					p.P291S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C871T	4						.						121.0	115.0	117.0					4																	38972710		2203	4300	6503	38649105	SO:0001583	missense	80008	exon6			AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.871C>T	4.37:g.38972710G>A	ENSP00000371364:p.Pro291Ser		38649105	NM_024943	Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	G	9.317	1.056959	0.19907	.	.	ENSG00000121895	ENST00000381938	T	0.44083	0.93	5.26	2.59	0.31030	.	0.684728	0.13777	N	0.363506	T	0.32285	0.0824	L	0.47716	1.5	0.30311	N	0.788521	B	0.29646	0.253	B	0.29663	0.105	T	0.38265	-0.9669	10	0.87932	D	0	-3.5788	3.4912	0.07638	0.0938:0.1922:0.5555:0.1585	.	291	Q8N614	TM156_HUMAN	S	291	ENSP00000371364:P291S	ENSP00000371364:P291S	P	-	1	0	TMEM156	38649105	0.995000	0.38212	0.806000	0.32338	0.074000	0.17049	0.878000	0.28126	0.334000	0.23590	0.655000	0.94253	CCC		0.403	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3	NM_024943	
KLHL5	51088	broad.mit.edu	37	4	39083717	39083717	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:39083717C>T	ENST00000504108.1	+	4	1259	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	KLHL5_ENST00000508137.2_Missense_Mutation_p.R139C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R326C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R265C|KLHL5_ENST00000261425.3_Missense_Mutation_p.R280C|KLHL5_ENST00000381930.3_Missense_Mutation_p.R326C	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	326						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R326C(3)|p.R326G(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCTTGGAATTCGTTCTTTTGC	0.393																																					p.R326C												.	.	4	Substitution - Missense(4)	large_intestine(3)|kidney(1)	c.C976T	4						.						204.0	193.0	197.0					4																	39083717		2203	4300	6503	38760112	SO:0001583	missense	51088	exon4			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.976C>T	4.37:g.39083717C>T	ENSP00000423897:p.Arg326Cys		38760112	NM_015990	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058313	0.93846	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.45	5.45	0.79879	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.983;0.998;0.996	D	0.85224	0.1028	10	0.87932	D	0	.	19.6602	0.95864	0.0:1.0:0.0:0.0	.	265;326;326	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	C	360;280;139;326;326;326;265	ENSP00000261425:R280C;ENSP00000423080:R139C;ENSP00000423897:R326C;ENSP00000352716:R326C;ENSP00000371355:R326C;ENSP00000261426:R265C	ENSP00000261425:R280C	R	+	1	0	KLHL5	38760112	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.729000	0.93468	0.460000	0.39030	CGT		0.393	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1		
RFC1	5981	broad.mit.edu	37	4	39310509	39310509	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:39310509C>A	ENST00000381897.1	-	13	1765	c.1632G>T	c.(1630-1632)aaG>aaT	p.K544N	RFC1_ENST00000349703.2_Missense_Mutation_p.K544N	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	544					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.K544N(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CATCTGTTTCCTTTTTTATTG	0.423																																					p.K544N	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1632T	4						.						165.0	168.0	167.0					4																	39310509		2203	4300	6503	38986904	SO:0001583	missense	5981	exon13			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1632G>T	4.37:g.39310509C>A	ENSP00000371321:p.Lys544Asn		38986904	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	6.687	0.495281	0.12762	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.55413	0.52;0.52	5.91	3.88	0.44766	.	0.592256	0.19597	N	0.110481	T	0.44808	0.1311	L	0.55481	1.735	0.51482	D	0.999925	B;P	0.39862	0.415;0.692	B;B	0.36845	0.081;0.234	T	0.41197	-0.9522	10	0.39692	T	0.17	-2.7004	9.6723	0.40019	0.0:0.7577:0.0:0.2423	.	544;544	P35251;P35251-2	RFC1_HUMAN;.	N	544	ENSP00000371321:K544N;ENSP00000261424:K544N	ENSP00000261424:K544N	K	-	3	2	RFC1	38986904	0.692000	0.27719	0.619000	0.29118	0.071000	0.16799	0.472000	0.22116	1.508000	0.48769	0.650000	0.86243	AAG		0.423	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
KLB	152831	broad.mit.edu	37	4	39436005	39436005	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:39436005T>G	ENST00000257408.4	+	2	1098	c.1001T>G	c.(1000-1002)aTc>aGc	p.I334S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	334	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.I334S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCCAACCCTATCCATGGGGAT	0.473																																					p.I334S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1001G	4						.						126.0	117.0	120.0					4																	39436005		2203	4300	6503	39112400	SO:0001583	missense	152831	exon2			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1001T>G	4.37:g.39436005T>G	ENSP00000257408:p.Ile334Ser		39112400	NM_175737	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591536	0.86953	.	.	ENSG00000134962	ENST00000257408	T	0.33216	1.42	6.17	6.17	0.99709	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048342	0.85682	D	0.000000	T	0.60222	0.2252	M	0.85299	2.745	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.65874	0.939;0.939	T	0.66284	-0.5962	10	0.87932	D	0	-23.6366	16.8222	0.85835	0.0:0.0:0.0:1.0	.	334;334	B7ZL50;Q86Z14	.;KLOTB_HUMAN	S	334	ENSP00000257408:I334S	ENSP00000257408:I334S	I	+	2	0	KLB	39112400	1.000000	0.71417	0.930000	0.37139	0.895000	0.52256	6.169000	0.71913	2.371000	0.80710	0.533000	0.62120	ATC		0.473	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737	
KLB	152831	broad.mit.edu	37	4	39436111	39436111	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:39436111C>A	ENST00000257408.4	+	2	1204	c.1107C>A	c.(1105-1107)ttC>ttA	p.F369L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	369	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.F369L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAGCTGATTTCTTTGCCTTTT	0.443																																					p.F369L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1107A	4						.						126.0	126.0	126.0					4																	39436111		2203	4300	6503	39112506	SO:0001583	missense	152831	exon2			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1107C>A	4.37:g.39436111C>A	ENSP00000257408:p.Phe369Leu		39112506	NM_175737	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671417	0.88348	.	.	ENSG00000134962	ENST00000257408	T	0.36699	1.24	6.17	5.33	0.75918	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.81341	2.54	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68484	-0.5396	10	0.66056	D	0.02	-26.8199	15.4423	0.75195	0.0:0.9341:0.0:0.0659	.	369;369	B7ZL50;Q86Z14	.;KLOTB_HUMAN	L	369	ENSP00000257408:F369L	ENSP00000257408:F369L	F	+	3	2	KLB	39112506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.835000	0.55805	1.627000	0.50400	0.655000	0.94253	TTC		0.443	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737	
KLB	152831	broad.mit.edu	37	4	39448472	39448472	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:39448472A>G	ENST00000257408.4	+	4	2223	c.2126A>G	c.(2125-2127)tAc>tGc	p.Y709C		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	709	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.Y709C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AACGACACCTACGGGGCGGCG	0.657																																					p.Y709C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2126G	4						.						51.0	55.0	53.0					4																	39448472		2203	4300	6503	39124867	SO:0001583	missense	152831	exon4			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2126A>G	4.37:g.39448472A>G	ENSP00000257408:p.Tyr709Cys		39124867	NM_175737	Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950619	0.73787	.	.	ENSG00000134962	ENST00000257408	T	0.39787	1.06	5.75	5.75	0.90469	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.053870	0.85682	D	0.000000	T	0.76758	0.4032	H	0.97131	3.945	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.85204	0.1017	10	0.87932	D	0	-25.0906	16.0452	0.80717	1.0:0.0:0.0:0.0	.	700;709	B7ZL50;Q86Z14	.;KLOTB_HUMAN	C	709	ENSP00000257408:Y709C	ENSP00000257408:Y709C	Y	+	2	0	KLB	39124867	1.000000	0.71417	0.991000	0.47740	0.692000	0.40212	8.861000	0.92277	2.197000	0.70478	0.402000	0.26972	TAC		0.657	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737	
LIAS	11019	broad.mit.edu	37	4	39466706	39466706	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:39466706C>A	ENST00000261434.3	+	5	552	c.434C>A	c.(433-435)tCt>tAt	p.S145Y	LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Missense_Mutation_p.S145Y|LIAS_ENST00000381846.1_Missense_Mutation_p.S145Y|LIAS_ENST00000513731.1_Intron	NM_006859.2	NP_006850.2			lipoic acid synthetase									p.S145Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						AGATTTTGTTCTGTTAAGACT	0.403																																					p.S145Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C434A	4						.						115.0	112.0	113.0					4																	39466706		2203	4300	6503	39143101	SO:0001583	missense	11019	exon5			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000261434.3:c.434C>A	4.37:g.39466706C>A	ENSP00000261434:p.Ser145Tyr		39143101	NM_194451		Missense_Mutation	SNP	ENST00000261434.3	37	CCDS3453.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297292	0.95574	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000381846	T;T;T	0.80480	-1.38;-1.38;-1.08	6.07	6.07	0.98685	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.92303	0.7558	M	0.92026	3.265	0.80722	D	1	P;D	0.76494	0.746;0.999	B;D	0.79108	0.43;0.992	D	0.92984	0.6409	10	0.87932	D	0	-18.9483	19.6475	0.95784	0.0:1.0:0.0:0.0	.	145;145	C9JCF6;O43766	.;LIAS_HUMAN	Y	145	ENSP00000340676:S145Y;ENSP00000261434:S145Y;ENSP00000371270:S145Y	ENSP00000261434:S145Y	S	+	2	0	LIAS	39143101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.024000	0.76443	2.885000	0.99019	0.655000	0.94253	TCT		0.403	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216815.1	NM_194451	
DCAF4L1	285429	broad.mit.edu	37	4	41984123	41984123	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:41984123G>A	ENST00000333141.5	+	1	411	c.314G>A	c.(313-315)cGa>cAa	p.R105Q		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	105								p.R105Q(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ATCAGCCTGCGAACTCTGAAG	0.547																																					p.R105Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G314A	4						.						96.0	88.0	91.0					4																	41984123		2203	4300	6503	41678880	SO:0001583	missense	285429	exon1			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.314G>A	4.37:g.41984123G>A	ENSP00000327796:p.Arg105Gln		41678880	NM_001029955	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321477	0.23994	.	.	ENSG00000182308	ENST00000333141	T	0.37411	1.2	0.688	-0.355	0.12587	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.851442	0.11299	N	0.578422	T	0.15565	0.0375	N	0.16307	0.4	0.23204	N	0.99812	B	0.10296	0.003	B	0.01281	0.0	T	0.32666	-0.9898	9	0.02654	T	1	.	.	.	.	.	105	Q3SXM0	DC4L1_HUMAN	Q	105	ENSP00000327796:R105Q	ENSP00000327796:R105Q	R	+	2	0	DCAF4L1	41678880	1.000000	0.71417	0.053000	0.19242	0.555000	0.35460	2.733000	0.47360	-0.186000	0.10533	0.313000	0.20887	CGA		0.547	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955	
DCAF4L1	285429	broad.mit.edu	37	4	41984806	41984806	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:41984806G>A	ENST00000333141.5	+	1	1094	c.997G>A	c.(997-999)Ggc>Agc	p.G333S		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	333								p.G333S(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GGTGGCAGTGGGCCAGGACTG	0.582																																					p.G333S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G997A	4						.						116.0	86.0	96.0					4																	41984806		2203	4300	6503	41679563	SO:0001583	missense	285429	exon1			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.997G>A	4.37:g.41984806G>A	ENSP00000327796:p.Gly333Ser		41679563	NM_001029955	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799418	0.90538	.	.	ENSG00000182308	ENST00000333141	T	0.63417	-0.04	0.97	0.97	0.19692	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	0.75693	0.3884	M	0.87180	2.865	0.46298	D	0.998972	D	0.76494	0.999	D	0.74023	0.982	T	0.73500	-0.3963	10	0.33940	T	0.23	.	7.7469	0.28875	1.0E-4:0.0:0.9999:0.0	.	333	Q3SXM0	DC4L1_HUMAN	S	333	ENSP00000327796:G333S	ENSP00000327796:G333S	G	+	1	0	DCAF4L1	41679563	1.000000	0.71417	0.991000	0.47740	0.862000	0.49288	6.192000	0.72069	0.821000	0.34540	0.313000	0.20887	GGC		0.582	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955	
SLC30A9	10463	broad.mit.edu	37	4	42088117	42088117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:42088117C>T	ENST00000264451.7	+	18	1861	c.1681C>T	c.(1681-1683)Cga>Tga	p.R561*		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	561					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R561*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTGAAGTTCGACATGTAGA	0.383																																					p.R561X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1681T	4						.						165.0	137.0	147.0					4																	42088117		2203	4300	6503	41782874	SO:0001587	stop_gained	10463	exon18			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1681C>T	4.37:g.42088117C>T	ENSP00000264451:p.Arg561*		41782874	NM_006345	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Nonsense_Mutation	SNP	ENST00000264451.7	37	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	C	39	7.546995	0.98352	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	.	.	.	5.17	5.17	0.71159	.	0.119372	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4813	18.6896	0.91578	0.0:1.0:0.0:0.0	.	.	.	.	X	561;389	.	ENSP00000264451:R561X	R	+	1	2	SLC30A9	41782874	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.983000	0.56916	2.400000	0.81607	0.650000	0.86243	CGA		0.383	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		
ATP8A1	10396	broad.mit.edu	37	4	42414957	42414957	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:42414957C>T	ENST00000381668.5	-	37	3702	c.3471G>A	c.(3469-3471)acG>acA	p.T1157T	ATP8A1_ENST00000264449.10_Silent_p.T1142T	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1157					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.T1157T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GCCTCTGTTTCGTGGTATCAT	0.458																																					p.T1157T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3471A	4						.						160.0	117.0	131.0					4																	42414957		2203	4300	6503	42109714	SO:0001819	synonymous_variant	10396	exon37			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3471G>A	4.37:g.42414957C>T			42109714	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																				0.458	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
ATP8A1	10396	broad.mit.edu	37	4	42618091	42618091	+	Missense_Mutation	SNP	C	C	T	rs372884316		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:42618091C>T	ENST00000381668.5	-	5	599	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R123Q	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	123					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R123Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGCTTTATGTCGTTTCTAAAG	0.299																																					p.R123Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G368A	4						.	C	GLN/ARG,GLN/ARG	0,4400		0,0,2200	179.0	169.0	173.0		368,368	6.0	1.0	4		173	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP8A1	NM_001105529.1,NM_006095.2	43,43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	123/1150,123/1165	42618091	1,12999	2200	4300	6500	42312848	SO:0001583	missense	10396	exon5			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.368G>A	4.37:g.42618091C>T	ENSP00000371084:p.Arg123Gln		42312848	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864058	0.91511	0.0	1.16E-4	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.85484	-1.99;-1.99	5.96	5.96	0.96718	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	H	0.97896	4.1	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.968;1.0;1.0	D	0.96789	0.9581	10	0.87932	D	0	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	123;123;123	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	Q	123	ENSP00000371084:R123Q;ENSP00000264449:R123Q	ENSP00000264449:R123Q	R	-	2	0	ATP8A1	42312848	1.000000	0.71417	1.000000	0.80357	0.530000	0.34684	7.110000	0.77069	2.831000	0.97527	0.650000	0.86243	CGA		0.299	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
GABRA2	2555	broad.mit.edu	37	4	46314713	46314713	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:46314713G>T	ENST00000510861.1	-	5	449	c.276C>A	c.(274-276)ttC>ttA	p.F92L	GABRA2_ENST00000381620.4_Missense_Mutation_p.F92L|GABRA2_ENST00000515082.1_Missense_Mutation_p.F92L|GABRA2_ENST00000507069.1_Missense_Mutation_p.F92L|GABRA2_ENST00000514090.1_Missense_Mutation_p.F92L|GABRA2_ENST00000356504.1_Missense_Mutation_p.F92L|GABRA2_ENST00000540012.1_Missense_Mutation_p.F37L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	92					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F92L(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTGTCGAAAGAAAACATCAA	0.274																																					p.F92L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C276A	4						.						28.0	29.0	29.0					4																	46314713		2188	4290	6478	46009470	SO:0001583	missense	2555	exon5				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.276C>A	4.37:g.46314713G>T	ENSP00000421828:p.Phe92Leu		46009470	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044222	0.75732	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.95	2.37	0.29283	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.66939	2.045	0.47308	D	0.999387	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.997;0.998;0.996	T	0.82151	-0.0599	10	0.87932	D	0	.	8.6218	0.33866	0.3559:0.0:0.6441:0.0	.	37;92;92	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	L	92;92;92;92;37;92;92;92;92	ENSP00000421828:F92L;ENSP00000421300:F92L;ENSP00000371033:F92L;ENSP00000348897:F92L;ENSP00000444409:F37L;ENSP00000427603:F92L;ENSP00000423840:F92L;ENSP00000424362:F92L;ENSP00000424093:F92L	ENSP00000348897:F92L	F	-	3	2	GABRA2	46009470	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	1.282000	0.33226	0.138000	0.18790	0.563000	0.77884	TTC		0.274	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GABRB1	2560	broad.mit.edu	37	4	47033680	47033680	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:47033680A>G	ENST00000295454.3	+	1	304	c.12A>G	c.(10-12)gtA>gtG	p.V4V	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	4					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)	p.V4V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGTGGACAGTACAAAATCGAG	0.453																																					p.V4V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A12G	4						.						159.0	167.0	165.0					4																	47033680		2203	4300	6503	46728437	SO:0001819	synonymous_variant	2560	exon1				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.12A>G	4.37:g.47033680A>G			46728437	NM_000812	B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	CCDS3474.1																																																																																				0.453	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
COMMD8	54951	broad.mit.edu	37	4	47462282	47462282	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:47462282C>T	ENST00000381571.4	-	2	168	c.101G>A	c.(100-102)cGa>cAa	p.R34Q		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	34								p.R34Q(1)		large_intestine(2)|lung(5)|prostate(1)	8						AGGATAAGCTCGACCACAAAT	0.328																																					p.R34Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G101A	4						.						83.0	80.0	81.0					4																	47462282		2203	4300	6503	47157039	SO:0001583	missense	54951	exon2			AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.101G>A	4.37:g.47462282C>T	ENSP00000370984:p.Arg34Gln		47157039	NM_017845	Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289296	0.80914	.	.	ENSG00000169019	ENST00000381571	T	0.08984	3.03	5.55	4.71	0.59529	.	0.113719	0.64402	N	0.000014	T	0.20007	0.0481	L	0.58428	1.81	0.54753	D	0.999987	D	0.76494	0.999	P	0.59595	0.86	T	0.00804	-1.1559	10	0.36615	T	0.2	-32.7007	13.0806	0.59112	0.0:0.9213:0.0:0.0787	.	34	Q9NX08	COMD8_HUMAN	Q	34	ENSP00000370984:R34Q	ENSP00000370984:R34Q	R	-	2	0	COMMD8	47157039	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.246000	0.51414	1.336000	0.45506	0.655000	0.94253	CGA		0.328	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845	
CORIN	10699	broad.mit.edu	37	4	47788759	47788759	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:47788759T>C	ENST00000273857.4	-	3	391	c.392A>G	c.(391-393)cAa>cGa	p.Q131R	CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000504584.1_Missense_Mutation_p.Q131R|CORIN_ENST00000502252.1_Intron|CORIN_ENST00000505909.1_Missense_Mutation_p.Q131R	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	131					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.Q131R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CCTGTGACTTTGGTCCCCTGG	0.448																																					p.Q131R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A392G	4						.						112.0	107.0	109.0					4																	47788759		2203	4300	6503	47483516	SO:0001583	missense	10699	exon3			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.392A>G	4.37:g.47788759T>C	ENSP00000273857:p.Gln131Arg		47483516	NM_006587	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865450	0.32977	.	.	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.92965	-2.63;-2.53;-3.14	4.82	4.82	0.62117	.	0.289066	0.29493	N	0.011996	D	0.85208	0.5644	L	0.29908	0.895	0.26007	N	0.982038	B;B;B	0.31318	0.001;0.319;0.001	B;B;B	0.27608	0.001;0.081;0.0	T	0.76375	-0.2982	10	0.31617	T	0.26	.	10.958	0.47368	0.0:0.0:0.0:1.0	.	131;131;131	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	R	131	ENSP00000273857:Q131R;ENSP00000425401:Q131R;ENSP00000423216:Q131R	ENSP00000273857:Q131R	Q	-	2	0	CORIN	47483516	0.719000	0.27986	0.224000	0.23877	0.040000	0.13550	0.848000	0.27710	2.166000	0.68216	0.460000	0.39030	CAA		0.448	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
NFXL1	152518	broad.mit.edu	37	4	47857108	47857108	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:47857108T>G	ENST00000507489.1	-	20	2565	c.2389A>C	c.(2389-2391)Aaa>Caa	p.K797Q	NFXL1_ENST00000381538.3_Missense_Mutation_p.K797Q	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	797						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K797Q(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CATCTAAGTTTTACCTTCTGG	0.294																																					p.K797Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2389C	4						.						92.0	90.0	91.0					4																	47857108		2203	4296	6499	47551865	SO:0001583	missense	152518	exon20			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2389A>C	4.37:g.47857108T>G	ENSP00000422037:p.Lys797Gln		47551865	NM_152995	B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	T	26.7	4.761300	0.89932	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.29142	1.58;1.58	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.50069	0.1594	M	0.68952	2.095	0.80722	D	1	D	0.63046	0.992	P	0.61722	0.893	T	0.38757	-0.9646	10	0.23891	T	0.37	-23.8913	16.2055	0.82126	0.0:0.0:0.0:1.0	.	797	Q6ZNB6	NFXL1_HUMAN	Q	797	ENSP00000370949:K797Q;ENSP00000422037:K797Q	ENSP00000370949:K797Q	K	-	1	0	NFXL1	47551865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.202000	0.72131	2.310000	0.77875	0.449000	0.29647	AAA		0.294	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	
FRYL	285527	broad.mit.edu	37	4	48592846	48592846	+	Splice_Site	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:48592846C>A	ENST00000503238.1	-	14	1336	c.1337G>T	c.(1336-1338)aGa>aTa	p.R446I	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Splice_Site_p.R446I|FRYL_ENST00000358350.4_Splice_Site_p.R446I|FRYL_ENST00000506685.1_Splice_Site_p.R152I|FRYL_ENST00000507711.1_Splice_Site_p.R446I			O94915	FRYL_HUMAN	FRY-like	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R446I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATGTTCATTCTCTTCAAAGG	0.388																																					p.R446I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1337T	4						.						103.0	93.0	96.0					4																	48592846		1861	4097	5958	48287603	SO:0001630	splice_region_variant	285527	exon17			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1336-1G>T	4.37:g.48592846C>A			48287603	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126512	0.94429	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.64991	1.11;1.11;1.12;-0.13	5.4	5.4	0.78164	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.81828	0.4905	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.985;1.0	D	0.84401	0.0560	10	0.87932	D	0	.	19.1696	0.93572	0.0:1.0:0.0:0.0	.	446;446	F2Z2S2;O94915	.;FRYL_HUMAN	I	446;446;446;446;152	ENSP00000426064:R446I;ENSP00000351113:R446I;ENSP00000441114:R446I;ENSP00000421584:R446I	ENSP00000351113:R446I	R	-	2	0	FRYL	48287603	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.776000	0.85560	2.523000	0.85059	0.655000	0.94253	AGA		0.388	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Missense_Mutation
FRYL	285527	broad.mit.edu	37	4	48608490	48608490	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:48608490C>T	ENST00000503238.1	-	7	705	c.706G>A	c.(706-708)Gta>Ata	p.V236I	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.V236I|FRYL_ENST00000358350.4_Missense_Mutation_p.V236I|FRYL_ENST00000506685.1_5'Flank|FRYL_ENST00000507711.1_Missense_Mutation_p.V236I			O94915	FRYL_HUMAN	FRY-like	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.V236I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAATCTTCTACAGGATACATT	0.343																																					p.V236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706A	4						.						74.0	68.0	70.0					4																	48608490		1809	4072	5881	48303247	SO:0001583	missense	285527	exon10			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.706G>A	4.37:g.48608490C>T	ENSP00000426064:p.Val236Ile		48303247	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951106	0.73787	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.09	5.75	5.75	0.90469	Armadillo-type fold (1);	0.000000	0.64402	U	0.000013	T	0.74107	0.3673	L	0.35723	1.085	0.80722	D	1	P;P	0.49185	0.92;0.743	D;B	0.65443	0.935;0.444	T	0.65713	-0.6101	10	0.15499	T	0.54	.	19.9462	0.97183	0.0:1.0:0.0:0.0	.	236;236	F2Z2S2;O94915	.;FRYL_HUMAN	I	236	ENSP00000426064:V236I;ENSP00000351113:V236I;ENSP00000441114:V236I;ENSP00000421584:V236I	ENSP00000351113:V236I	V	-	1	0	FRYL	48303247	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.717000	0.92951	0.585000	0.79938	GTA		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
SGCB	6443	broad.mit.edu	37	4	52894959	52894959	+	Silent	SNP	A	A	C	rs200167048	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:52894959A>C	ENST00000381431.5	-	4	780	c.558T>G	c.(556-558)acT>acG	p.T186T	SGCB_ENST00000535450.1_Silent_p.T116T	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	186	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.T186T(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GAAACTCATGAGTTTCATAGT	0.363													A|||	2	0.000399361	0.0015	0.0	5008	,	,		15368	0.0		0.0	False		,,,				2504	0.0				p.T186T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T558G	4						.						87.0	87.0	87.0					4																	52894959		2203	4300	6503	52589716	SO:0001819	synonymous_variant	6443	exon4			U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.558T>G	4.37:g.52894959A>C			52589716	NM_000232	B7Z635|O00661	Silent	SNP	ENST00000381431.5	37	CCDS3488.1																																																																																				0.363	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2		
USP46	64854	broad.mit.edu	37	4	53492311	53492311	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:53492311T>G	ENST00000441222.3	-	4	619	c.435A>C	c.(433-435)caA>caC	p.Q145H	USP46_ENST00000451218.2_Missense_Mutation_p.Q118H|USP46_ENST00000508499.1_Missense_Mutation_p.Q138H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	145	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ATTTTCCATTTTGTTTTTCCT	0.373																																					p.Q145H												.	.	0			c.A435C	4						.						137.0	123.0	127.0					4																	53492311		1820	4086	5906	53187068	SO:0001583	missense	64854	exon4			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"""Ubiquitin-specific peptidases"""	20075	protein-coding gene	gene with protein product		612849	"""ubiquitin specific protease 46"""			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.435A>C	4.37:g.53492311T>G	ENSP00000407818:p.Gln145His		53187068	NM_022832	B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	ENST00000441222.3	37	CCDS47053.1	.	.	.	.	.	.	.	.	.	.	T	9.988	1.230025	0.22542	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.24350	1.94;1.86;1.95	5.0	-0.569	0.11756	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.405452	0.21093	N	0.080284	T	0.27169	0.0666	L	0.47716	1.5	0.48762	D	0.999706	P;P;P;B	0.40197	0.706;0.574;0.628;0.127	P;P;P;B	0.50314	0.504;0.504;0.637;0.269	T	0.05599	-1.0875	10	0.44086	T	0.13	-14.7506	5.1177	0.14843	0.0:0.3239:0.1509:0.5252	.	29;133;145;138	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	H	145;118;138	ENSP00000407818:Q145H;ENSP00000390102:Q118H;ENSP00000423244:Q138H	ENSP00000407818:Q145H	Q	-	3	2	USP46	53187068	1.000000	0.71417	0.988000	0.46212	0.155000	0.21991	0.871000	0.28023	0.047000	0.15862	0.528000	0.53228	CAA		0.373	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361516.2	NM_022832	
PDGFRA	5156	broad.mit.edu	37	4	55129918	55129918	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:55129918G>A	ENST00000257290.5	+	4	783	c.452G>A	c.(451-453)cGc>cAc	p.R151H	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.R151H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	151	Ig-like C2-type 2.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R151H(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	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)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATACCTTGTCGCACAACTGAT	0.473			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.R151H	Pancreas(151;208 1913 7310 23853 37092)		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G452A	4						.						164.0	139.0	147.0					4																	55129918		2203	4300	6503	54824675	SO:0001583	missense	5156	exon4	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.452G>A	4.37:g.55129918G>A	ENSP00000257290:p.Arg151His		54824675	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393341	0.83011	.	.	ENSG00000134853	ENST00000257290;ENST00000508170;ENST00000503856;ENST00000504461;ENST00000512522	T;T;T;T;T	0.54479	0.57;0.57;1.75;1.75;1.75	5.59	5.59	0.84812	Immunoglobulin-like fold (1);	0.000000	0.32671	U	0.005797	T	0.64746	0.2626	M	0.72894	2.215	0.80722	D	1	P;B;D	0.58970	0.526;0.091;0.984	B;B;P	0.51385	0.121;0.028;0.668	T	0.63413	-0.6643	10	0.35671	T	0.21	.	19.5966	0.95541	0.0:0.0:1.0:0.0	.	151;151;151	P16234-3;P16234;P16234-2	.;PGFRA_HUMAN;.	H	151	ENSP00000257290:R151H;ENSP00000425648:R151H;ENSP00000425902:R151H;ENSP00000426472:R151H;ENSP00000425232:R151H	ENSP00000257290:R151H	R	+	2	0	PDGFRA	54824675	1.000000	0.71417	0.804000	0.32291	0.292000	0.27327	7.762000	0.85270	2.622000	0.88805	0.561000	0.74099	CGC		0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
KIT	3815	broad.mit.edu	37	4	55575684	55575684	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:55575684G>A	ENST00000288135.5	+	7	1307	c.1210G>A	c.(1210-1212)Gca>Aca	p.A404T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	404	Ig-like C2-type 4.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A404T(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCTGCCATAGCATTTAATGT	0.378		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.A404T		yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1210A	4						.						104.0	98.0	100.0					4																	55575684		2203	4300	6503	55270441	SO:0001583	missense	3815	exon7	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1210G>A	4.37:g.55575684G>A	ENSP00000288135:p.Ala404Thr		55270441	NM_000222	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.524737	0.00959	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.51325	0.71;0.71	5.89	2.18	0.27775	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.408932	0.23375	N	0.048862	T	0.10252	0.0251	N	0.00210	-1.845	0.20638	N	0.999876	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39187	-0.9626	10	0.02654	T	1	.	7.8437	0.29414	0.6394:0.0:0.3606:0.0	.	404;404	P10721-2;P10721	.;KIT_HUMAN	T	404	ENSP00000288135:A404T;ENSP00000390987:A404T	ENSP00000288135:A404T	A	+	1	0	KIT	55270441	1.000000	0.71417	0.427000	0.26684	0.066000	0.16364	0.906000	0.28517	0.450000	0.26774	0.557000	0.71058	GCA		0.378	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KDR	3791	broad.mit.edu	37	4	55981091	55981091	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:55981091T>G	ENST00000263923.4	-	5	903	c.608A>C	c.(607-609)aAa>aCa	p.K203T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	203	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K203T(1)		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)	ATCATTAATTTTTGCTTCACA	0.368			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.K203T			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A608C	4						.						84.0	84.0	84.0					4																	55981091		2203	4300	6503	55675848	SO:0001583	missense	3791	exon5			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.608A>C	4.37:g.55981091T>G	ENSP00000263923:p.Lys203Thr		55675848	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	5.580	0.291893	0.10567	.	.	ENSG00000128052	ENST00000263923	T	0.04119	3.7	5.9	4.73	0.59995	Immunoglobulin-like fold (1);	0.396515	0.30437	N	0.009639	T	0.05318	0.0141	N	0.03948	-0.315	0.37352	D	0.910856	D;B	0.63880	0.993;0.168	D;B	0.65987	0.94;0.03	T	0.55503	-0.8131	10	0.09590	T	0.72	.	11.4101	0.49921	0.0:0.07:0.0:0.93	.	203;203	P35968-2;P35968	.;VGFR2_HUMAN	T	203	ENSP00000263923:K203T	ENSP00000263923:K203T	K	-	2	0	KDR	55675848	0.989000	0.36119	1.000000	0.80357	0.819000	0.46315	0.927000	0.28818	2.250000	0.74265	0.533000	0.62120	AAA		0.368	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
KDR	3791	broad.mit.edu	37	4	55987310	55987310	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:55987310C>A	ENST00000263923.4	-	2	410	c.115G>T	c.(115-117)Gac>Tac	p.D39Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	39					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D39Y(1)		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)	GTAAGTATGTCTTTTTGTATG	0.333			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																											p.D39Y			Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G115T	4						.						134.0	138.0	137.0					4																	55987310		2203	4300	6503	55682067	SO:0001583	missense	3791	exon2			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.115G>T	4.37:g.55987310C>A	ENSP00000263923:p.Asp39Tyr		55682067	NM_002253	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338288	0.41398	.	.	ENSG00000128052	ENST00000263923	T	0.34859	1.34	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.408165	0.28952	N	0.013618	T	0.52885	0.1762	M	0.70275	2.135	0.32242	N	0.572588	D;P	0.63880	0.993;0.874	D;B	0.63192	0.912;0.44	T	0.62982	-0.6738	10	0.41790	T	0.15	.	9.3387	0.38067	0.1445:0.7809:0.0:0.0746	.	39;39	P35968-2;P35968	.;VGFR2_HUMAN	Y	39	ENSP00000263923:D39Y	ENSP00000263923:D39Y	D	-	1	0	KDR	55682067	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	1.327000	0.33746	2.759000	0.94783	0.650000	0.86243	GAC		0.333	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
CLOCK	9575	broad.mit.edu	37	4	56315025	56315025	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:56315025G>A	ENST00000309964.4	-	17	1710	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	CLOCK_ENST00000381322.1_Missense_Mutation_p.S487F|CLOCK_ENST00000513440.1_Missense_Mutation_p.S487F	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	487	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Interaction with SIRT1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S487F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AACAGACTGGGAATTTATGGA	0.353																																					p.S487F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1460T	4						.						112.0	107.0	109.0					4																	56315025		2203	4300	6503	56009782	SO:0001583	missense	9575	exon18			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1460C>T	4.37:g.56315025G>A	ENSP00000308741:p.Ser487Phe		56009782	NM_004898	A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106198	0.77096	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.05513	3.43;3.43;3.43	5.82	5.82	0.92795	.	0.315230	0.38720	N	0.001600	T	0.21022	0.0506	M	0.72894	2.215	0.80722	D	1	D	0.63046	0.992	P	0.61328	0.887	T	0.06935	-1.0799	10	0.10111	T	0.7	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	487	O15516	CLOCK_HUMAN	F	487	ENSP00000308741:S487F;ENSP00000370723:S487F;ENSP00000426983:S487F	ENSP00000308741:S487F	S	-	2	0	CLOCK	56009782	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.473000	0.73572	2.756000	0.94617	0.561000	0.74099	TCC		0.353	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
CLOCK	9575	broad.mit.edu	37	4	56325370	56325370	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:56325370C>T	ENST00000309964.4	-	9	868	c.618G>A	c.(616-618)gaG>gaA	p.E206E	CLOCK_ENST00000381322.1_Silent_p.E206E|CLOCK_ENST00000513440.1_Silent_p.E206E	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	206					cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E206E(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AGGTAGATGGCTCCTTTGGGT	0.294																																					p.E206E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G618A	4						.						54.0	55.0	55.0					4																	56325370		2202	4296	6498	56020127	SO:0001819	synonymous_variant	9575	exon10			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.618G>A	4.37:g.56325370C>T			56020127	NM_004898	A0AV01|A2I2N9|O14516|Q9UIT8	Silent	SNP	ENST00000309964.4	37	CCDS3500.1																																																																																				0.294	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
CEP135	9662	broad.mit.edu	37	4	56865734	56865734	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:56865734G>A	ENST00000257287.4	+	17	2327	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	735					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E735K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TATTGATAAAGAAAAAGACTT	0.328																																					p.E735K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2203A	4						.						73.0	81.0	78.0					4																	56865734		2203	4300	6503	56560491	SO:0001583	missense	9662	exon17			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2203G>A	4.37:g.56865734G>A	ENSP00000257287:p.Glu735Lys		56560491	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911734	0.92178	.	.	ENSG00000174799	ENST00000257287	T	0.51325	0.71	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72659	-0.4226	10	0.52906	T	0.07	.	18.0678	0.89396	0.0:0.0:1.0:0.0	.	735	Q66GS9	CP135_HUMAN	K	735	ENSP00000257287:E735K	ENSP00000257287:E735K	E	+	1	0	CEP135	56560491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.666000	0.83877	2.504000	0.84457	0.644000	0.83932	GAA		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
AASDH	132949	broad.mit.edu	37	4	57219662	57219662	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:57219662T>G	ENST00000205214.6	-	9	1664	c.1484A>C	c.(1483-1485)gAa>gCa	p.E495A	AASDH_ENST00000513376.1_Missense_Mutation_p.E395A|AASDH_ENST00000502617.1_Missense_Mutation_p.E495A|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000434343.2_Missense_Mutation_p.E10A|AASDH_ENST00000602986.1_Missense_Mutation_p.E342A|AASDH_ENST00000451613.1_Missense_Mutation_p.E495A	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	495					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.E495A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAAGATGTATTCTTTTACTGA	0.388																																					p.E495A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1484C	4						.						84.0	85.0	84.0					4																	57219662		2203	4300	6503	56914419	SO:0001583	missense	132949	exon9			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1484A>C	4.37:g.57219662T>G	ENSP00000205214:p.Glu495Ala		56914419	NM_181806	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	8.615	0.889929	0.17540	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77	5.69	4.51	0.55191	.	0.633028	0.18879	N	0.128602	T	0.06280	0.0162	N	0.11673	0.155	0.21445	N	0.999687	B;B;B;B	0.26902	0.143;0.163;0.163;0.014	B;B;B;B	0.32533	0.052;0.147;0.147;0.019	T	0.42531	-0.9446	10	0.20046	T	0.44	-3.7028	8.0511	0.30579	0.0:0.1992:0.0:0.8008	.	342;495;495;495	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	A	495;395;10;495;342;495	ENSP00000205214:E495A;ENSP00000423760:E395A;ENSP00000392158:E10A;ENSP00000409656:E495A;ENSP00000421171:E495A	ENSP00000205214:E495A	E	-	2	0	AASDH	56914419	0.043000	0.20138	0.385000	0.26158	0.139000	0.21198	1.433000	0.34947	1.089000	0.41292	-0.256000	0.11100	GAA		0.388	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
SRP72	6731	broad.mit.edu	37	4	57349351	57349351	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:57349351C>T	ENST00000342756.5	+	9	1593	c.872C>T	c.(871-873)gCg>gTg	p.A291V	SRP72_ENST00000510663.1_Missense_Mutation_p.A230V	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	291					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.A291V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					TTAACCAATGCGGAAGGAGTA	0.333																																					p.A291V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C872T	4						.						74.0	74.0	74.0					4																	57349351		2203	4299	6502	57044108	SO:0001583	missense	6731	exon9			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.872C>T	4.37:g.57349351C>T	ENSP00000342181:p.Ala291Val		57044108	NM_006947	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809393	0.90707	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.76578	-1.03;-0.96	5.72	5.72	0.89469	.	0.048429	0.85682	D	0.000000	T	0.75664	0.3880	M	0.66939	2.045	0.80722	D	1	P;P	0.47841	0.901;0.868	B;B	0.39217	0.294;0.254	T	0.76302	-0.3009	10	0.33141	T	0.24	.	17.3573	0.87340	0.0:1.0:0.0:0.0	.	230;291	G5E9Z8;O76094	.;SRP72_HUMAN	V	291;236;230	ENSP00000342181:A291V;ENSP00000424576:A230V	ENSP00000342181:A291V	A	+	2	0	SRP72	57044108	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.729000	0.84864	2.694000	0.91930	0.655000	0.94253	GCG		0.333	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7		
NOA1	84273	broad.mit.edu	37	4	57843260	57843260	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:57843260G>T	ENST00000264230.4	-	1	1729	c.492C>A	c.(490-492)ttC>ttA	p.F164L	POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000441246.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	164					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.F164L(1)									CCGTGCGGAGGAACTTCTCTC	0.726																																					p.F164L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C492A	4						.						4.0	6.0	5.0					4																	57843260		1913	3869	5782	57538017	SO:0001583	missense	84273	exon1			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.492C>A	4.37:g.57843260G>T	ENSP00000264230:p.Phe164Leu		57538017	NM_032313	Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	ENST00000264230.4	37	CCDS3510.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503933	0.26949	.	.	ENSG00000084092	ENST00000264230	T	0.20881	2.04	4.88	1.06	0.20224	.	0.266898	0.38778	N	0.001569	T	0.11196	0.0273	L	0.31845	0.965	0.34178	D	0.670616	B	0.12630	0.006	B	0.09377	0.004	T	0.31558	-0.9939	10	0.09590	T	0.72	.	5.5565	0.17119	0.3024:0.1309:0.5667:0.0	.	164	Q8NC60	CD014_HUMAN	L	164	ENSP00000264230:F164L	ENSP00000264230:F164L	F	-	3	2	C4orf14	57538017	0.990000	0.36364	0.093000	0.20910	0.001000	0.01503	1.854000	0.39368	0.098000	0.17522	-0.439000	0.05793	TTC		0.726	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313	
POLR2B	5431	broad.mit.edu	37	4	57881760	57881760	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:57881760A>C	ENST00000381227.1	+	15	2306	c.1893A>C	c.(1891-1893)caA>caC	p.Q631H	POLR2B_ENST00000431623.2_Missense_Mutation_p.Q556H|POLR2B_ENST00000314595.5_Missense_Mutation_p.Q631H|POLR2B_ENST00000441246.2_Missense_Mutation_p.Q624H|POLR2B_ENST00000510355.1_3'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	631					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.Q631H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGGAAAAACAAAAGCTACTTT	0.353																																					p.Q631H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1893C	4						.						112.0	120.0	117.0					4																	57881760		2203	4300	6503	57576517	SO:0001583	missense	5431	exon14				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1893A>C	4.37:g.57881760A>C	ENSP00000370625:p.Gln631His		57576517	NM_000938	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085820	0.55861	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.6	0.251	0.15540	.	0.126886	0.64402	D	0.000014	T	0.74245	0.3691	M	0.61703	1.905	0.58432	D	0.999994	B;B	0.33073	0.396;0.396	B;B	0.39068	0.289;0.289	T	0.70901	-0.4746	10	0.66056	D	0.02	.	9.6926	0.40139	0.5781:0.0:0.4219:0.0	.	556;631	C9J4M6;P30876	.;RPB2_HUMAN	H	631;556;624;631	ENSP00000370625:Q631H;ENSP00000391096:Q556H;ENSP00000391452:Q624H;ENSP00000312735:Q631H	ENSP00000312735:Q631H	Q	+	3	2	POLR2B	57576517	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.605000	0.36815	0.061000	0.16311	0.379000	0.24179	CAA		0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
POLR2B	5431	broad.mit.edu	37	4	57897136	57897136	+	Silent	SNP	G	G	A	rs546899344		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:57897136G>A	ENST00000381227.1	+	26	3920	c.3507G>A	c.(3505-3507)ccG>ccA	p.P1169P	IGFBP7_ENST00000295666.4_3'UTR|POLR2B_ENST00000431623.2_Silent_p.P1094P|POLR2B_ENST00000314595.5_Silent_p.P1169P|POLR2B_ENST00000441246.2_Silent_p.P1162P|IGFBP7_ENST00000512512.1_5'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1169					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.P1169P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTATTGCACCGCGAATGATGA	0.333													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17840	0.0		0.0	False		,,,				2504	0.0				p.P1169P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3507A	4						.						149.0	135.0	140.0					4																	57897136		2203	4300	6503	57591893	SO:0001819	synonymous_variant	5431	exon25				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.3507G>A	4.37:g.57897136G>A			57591893	NM_000938	A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	CCDS3511.1																																																																																				0.333	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
LPHN3	23284	broad.mit.edu	37	4	62758404	62758404	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:62758404G>T	ENST00000514591.1	+	9	1636	c.1307G>T	c.(1306-1308)gGa>gTa	p.G436V	LPHN3_ENST00000512091.2_Missense_Mutation_p.G436V|LPHN3_ENST00000508693.1_Missense_Mutation_p.G504V|LPHN3_ENST00000514157.1_Missense_Mutation_p.G436V|LPHN3_ENST00000506746.1_Missense_Mutation_p.G504V|LPHN3_ENST00000514996.1_Missense_Mutation_p.G436V|LPHN3_ENST00000507625.1_Missense_Mutation_p.G504V|LPHN3_ENST00000504896.1_Missense_Mutation_p.G436V|LPHN3_ENST00000507164.1_Missense_Mutation_p.G504V|LPHN3_ENST00000508946.1_Missense_Mutation_p.G436V|LPHN3_ENST00000509896.1_Missense_Mutation_p.G504V|LPHN3_ENST00000506720.1_Missense_Mutation_p.G504V|LPHN3_ENST00000545650.1_Missense_Mutation_p.G436V|LPHN3_ENST00000511324.1_Missense_Mutation_p.G504V|LPHN3_ENST00000506700.1_Missense_Mutation_p.G436V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	436					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.G436V(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTGGCATGGGAAGCACTACC	0.478																																					p.G436V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1307T	4						.						111.0	104.0	106.0					4																	62758404		1974	4152	6126	62440999	SO:0001583	missense	23284	exon7			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1307G>T	4.37:g.62758404G>T	ENSP00000422533:p.Gly436Val		62440999	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	5.375	0.254520	0.10185	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.75	5.75	0.90469	.	0.817858	0.11228	N	0.585938	T	0.55210	0.1906	N	0.24115	0.695	0.53005	D	0.999968	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42498	-0.9448	10	0.06494	T	0.89	.	13.3509	0.60601	0.0:0.0:0.7341:0.2659	.	436;436	E9PE04;Q9HAR2-2	.;.	V	436;436;504;504;436;436;436;436;436;504;504;504;436;436;436;504;504;436	ENSP00000423388:G436V;ENSP00000422533:G436V;ENSP00000423787:G504V;ENSP00000425033:G504V;ENSP00000424120:G436V;ENSP00000439831:G436V;ENSP00000421476:G504V;ENSP00000424030:G504V;ENSP00000421372:G504V;ENSP00000425201:G436V;ENSP00000423434:G436V;ENSP00000421627:G436V;ENSP00000420931:G504V;ENSP00000425884:G504V;ENSP00000424258:G436V	ENSP00000280009:G436V	G	+	2	0	LPHN3	62440999	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.936000	0.63506	2.701000	0.92244	0.557000	0.71058	GGA		0.478	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
LPHN3	23284	broad.mit.edu	37	4	62910205	62910205	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:62910205G>A	ENST00000514591.1	+	24	3877	c.3548G>A	c.(3547-3549)cGa>cAa	p.R1183Q	LPHN3_ENST00000512091.2_Missense_Mutation_p.R1183Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1251Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R1174Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R1174Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R1183Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R1183Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1251Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1251Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R1183Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1242Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R1174Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R1183Q(8)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GACACGGTTCGAAAGCAGTCA	0.383																																					p.R1183Q												.	.	8	Substitution - Missense(8)	large_intestine(8)	c.G3548A	4						.						51.0	51.0	51.0					4																	62910205		1917	4140	6057	62592800	SO:0001583	missense	23284	exon22			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3548G>A	4.37:g.62910205G>A	ENSP00000422533:p.Arg1183Gln		62592800	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237803	0.79800	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.74209	-0.64;-0.77;-0.67;-0.65;-0.63;-0.77;-0.68;-0.7;-0.79;-0.66;-0.68;-0.79;-0.82;-0.79;-0.77	6.08	5.22	0.72569	GPCR, family 2, latrophilin, C-terminal (1);	0.063748	0.64402	D	0.000014	D	0.85053	0.5609	M	0.65975	2.015	0.51012	D	0.999903	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.99	D	0.86724	0.1944	10	0.72032	D	0.01	.	16.6528	0.85221	0.0:0.0:0.8692:0.1308	.	1183;1161;1183	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	Q	1183;1183;1251;1242;1174;1183;1161;1183;1242;1251;1242;1174;1183;1183;1251;1242;1174	ENSP00000423388:R1183Q;ENSP00000422533:R1183Q;ENSP00000423787:R1251Q;ENSP00000425033:R1242Q;ENSP00000424120:R1174Q;ENSP00000439831:R1183Q;ENSP00000421476:R1242Q;ENSP00000424030:R1251Q;ENSP00000421372:R1242Q;ENSP00000425201:R1174Q;ENSP00000423434:R1183Q;ENSP00000421627:R1183Q;ENSP00000420931:R1251Q;ENSP00000425884:R1242Q;ENSP00000424258:R1174Q	ENSP00000280009:R1183Q	R	+	2	0	LPHN3	62592800	1.000000	0.71417	0.959000	0.39883	0.443000	0.32047	9.476000	0.97823	1.534000	0.49203	0.655000	0.94253	CGA		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
CENPC	1060	broad.mit.edu	37	4	68358708	68358708	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:68358708G>A	ENST00000273853.6	-	15	2548	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	766					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.F766F(1)									CACTAATCACGAATCCTCCTG	0.294																																					p.F766F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2298T	4						.						61.0	48.0	52.0					4																	68358708		1762	3997	5759	68041303	SO:0001819	synonymous_variant	1060	exon15			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.2298C>T	4.37:g.68358708G>A			68041303	NM_001812	Q8IW27|Q9P0M5	Silent	SNP	ENST00000273853.6	37	CCDS47063.1																																																																																				0.294	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2		
STAP1	26228	broad.mit.edu	37	4	68441165	68441165	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:68441165G>T	ENST00000265404.2	+	3	337	c.255G>T	c.(253-255)aaG>aaT	p.K85N	STAP1_ENST00000396225.1_Missense_Mutation_p.K85N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	85	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.K85N(1)		NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CAACTGAAAAGAACTGTGCGA	0.378																																					p.K85N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G255T	4						.						129.0	121.0	123.0					4																	68441165		2203	4300	6503	68123760	SO:0001583	missense	26228	exon3			AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.255G>T	4.37:g.68441165G>T	ENSP00000265404:p.Lys85Asn		68123760	NM_012108	B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848399	0.32699	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	T;T	0.31769	1.48;1.48	5.3	3.53	0.40419	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.274237	0.40302	N	0.001135	T	0.19087	0.0458	L	0.36672	1.1	0.35283	D	0.781481	B	0.31413	0.322	B	0.29785	0.107	T	0.16748	-1.0392	10	0.10111	T	0.7	-6.5435	7.5858	0.27991	0.0898:0.1657:0.7446:0.0	.	85	Q9ULZ2	STAP1_HUMAN	N	85	ENSP00000265404:K85N;ENSP00000379527:K85N	ENSP00000265404:K85N	K	+	3	2	STAP1	68123760	0.493000	0.26035	1.000000	0.80357	0.947000	0.59692	0.271000	0.18626	0.688000	0.31529	0.655000	0.94253	AAG		0.378	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108	
UBA6	55236	broad.mit.edu	37	4	68490770	68490770	+	Missense_Mutation	SNP	C	C	T	rs140996878		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:68490770C>T	ENST00000322244.5	-	29	2713	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	885					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.R885H(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						ACCAGCTATGCGCTTTGTTTT	0.373																																					p.R885H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2654A	4						.	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	112.0	116.0		2654	5.5	1.0	4	dbSNP_134	116	0,8598		0,0,4299	no	missense	UBA6	NM_018227.5	29	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	885/1053	68490770	1,13003	2203	4299	6502	68173365	SO:0001583	missense	55236	exon29			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2654G>A	4.37:g.68490770C>T	ENSP00000313454:p.Arg885His		68173365	NM_018227	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	37	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999939	0.74818	2.27E-4	0.0	ENSG00000033178	ENST00000322244	T	0.45668	0.89	5.52	5.52	0.82312	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.68604	0.3019	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	T	0.72874	-0.4160	10	0.52906	T	0.07	-13.1519	17.6191	0.88076	0.0:1.0:0.0:0.0	.	885	A0AVT1	UBA6_HUMAN	H	885	ENSP00000313454:R885H	ENSP00000313454:R885H	R	-	2	0	UBA6	68173365	1.000000	0.71417	0.998000	0.56505	0.333000	0.28666	7.008000	0.76341	2.566000	0.86566	0.655000	0.94253	CGC		0.373	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
TMPRSS11B	132724	broad.mit.edu	37	4	69094992	69094992	+	Missense_Mutation	SNP	C	C	A	rs375640835		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:69094992C>A	ENST00000332644.5	-	8	1090	c.929G>T	c.(928-930)gGa>gTa	p.G310V		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	310	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.G310V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ATAAAGTGTTCCCCAACCTGT	0.333																																					p.G310V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G929T	4						.						96.0	99.0	98.0					4																	69094992		2203	4300	6503	68777587	SO:0001583	missense	132724	exon8			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.929G>T	4.37:g.69094992C>A	ENSP00000330475:p.Gly310Val		68777587	NM_182502	A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854882	0.32791	.	.	ENSG00000185873	ENST00000332644	D	0.97066	-4.23	4.89	4.04	0.47022	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41823	D	0.000810	D	0.99039	0.9671	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98645	1.0677	10	0.87932	D	0	.	11.6373	0.51211	0.0:0.9123:0.0:0.0877	.	310	Q86T26	TM11B_HUMAN	V	310	ENSP00000330475:G310V	ENSP00000330475:G310V	G	-	2	0	TMPRSS11B	68777587	1.000000	0.71417	0.939000	0.37840	0.022000	0.10575	4.048000	0.57390	1.412000	0.46977	0.650000	0.86243	GGA		0.333	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502	
YTHDC1	91746	broad.mit.edu	37	4	69202840	69202840	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:69202840T>C	ENST00000344157.4	-	4	1123	c.788A>G	c.(787-789)gAt>gGt	p.D263G	YTHDC1_ENST00000579690.1_Missense_Mutation_p.D263G|YTHDC1_ENST00000355665.3_Missense_Mutation_p.D263G	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	263					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D263G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGTGTCATAATCATTTCCCTC	0.498																																					p.D263G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A788G	4						.						218.0	150.0	173.0					4																	69202840		2203	4300	6503	68885435	SO:0001583	missense	91746	exon4			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.788A>G	4.37:g.69202840T>C	ENSP00000339245:p.Asp263Gly		68885435	NM_001031732	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170200	0.57584	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.30714	1.75;1.52	5.73	5.73	0.89815	.	0.048450	0.85682	D	0.000000	T	0.42877	0.1222	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.77557	0.99;0.977	T	0.25082	-1.0142	10	0.36615	T	0.2	.	16.0255	0.80541	0.0:0.0:0.0:1.0	.	263;263	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	G	263	ENSP00000339245:D263G;ENSP00000347888:D263G	ENSP00000339245:D263G	D	-	2	0	YTHDC1	68885435	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.217000	0.77982	2.195000	0.70347	0.477000	0.44152	GAT		0.498	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370	
UGT2B10	7365	broad.mit.edu	37	4	69682399	69682399	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:69682399T>G	ENST00000265403.7	+	1	689	c.662T>G	c.(661-663)tTt>tGt	p.F221C	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	221					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.F221C(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TATTTTGACTTTTGGTTCCAA	0.313																																					p.F221C	Melanoma(133;755 1763 25578 26334 46021)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T662G	4						.						48.0	50.0	49.0					4																	69682399		2200	4293	6493	69716988	SO:0001583	missense	7365	exon1			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.662T>G	4.37:g.69682399T>G	ENSP00000265403:p.Phe221Cys		69716988	NM_001075	A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37		.	.	.	.	.	.	.	.	.	.	t	1.645	-0.515381	0.04200	.	.	ENSG00000109181	ENST00000265403	T	0.62941	-0.01	2.63	1.34	0.21922	.	0.393637	0.21793	U	0.069026	T	0.63474	0.2514	M	0.78916	2.43	0.20307	N	0.999917	B	0.31459	0.324	B	0.39840	0.311	T	0.60434	-0.7264	10	0.87932	D	0	.	6.6244	0.22820	0.0:0.0:0.2452:0.7548	.	221	P36537	UDB10_HUMAN	C	221	ENSP00000265403:F221C	ENSP00000265403:F221C	F	+	2	0	UGT2B10	69716988	0.000000	0.05858	0.466000	0.27168	0.035000	0.12851	-0.227000	0.09126	0.127000	0.18452	0.155000	0.16302	TTT		0.313	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	
UGT2B11	10720	broad.mit.edu	37	4	70066279	70066279	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:70066279G>T	ENST00000446444.1	-	6	1477	c.1469C>A	c.(1468-1470)tCt>tAt	p.S490Y	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	490					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S490Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CACATCCAAAGAGTGGTACTG	0.463																																					p.S490Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1469A	4						.						119.0	116.0	117.0					4																	70066279		2203	4297	6500	70100868	SO:0001583	missense	10720	exon6			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1469C>A	4.37:g.70066279G>T	ENSP00000387683:p.Ser490Tyr		70100868	NM_001073	Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	9.851	1.193542	0.22037	.	.	ENSG00000213759	ENST00000446444	T	0.71103	-0.54	1.27	1.27	0.21489	.	0.149742	0.43110	U	0.000612	D	0.84745	0.5540	H	0.95504	3.68	0.22701	N	0.998836	D	0.71674	0.998	D	0.73380	0.98	T	0.72757	-0.4197	10	0.87932	D	0	.	5.3986	0.16283	0.0:0.3631:0.6368:0.0	.	490	O75310	UDB11_HUMAN	Y	490	ENSP00000387683:S490Y	ENSP00000387683:S490Y	S	-	2	0	UGT2B11	70100868	0.898000	0.30612	0.990000	0.47175	0.156000	0.22039	1.286000	0.33273	1.023000	0.39654	0.184000	0.17185	TCT		0.463	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
UGT2B11	10720	broad.mit.edu	37	4	70080140	70080140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:70080140G>A	ENST00000446444.1	-	1	309	c.301C>T	c.(301-303)Cga>Tga	p.R101*	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	101					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R101*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CTATCTTTTCGAATGTCTGAC	0.299																																					p.R101X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C301T	4						.						63.0	79.0	73.0					4																	70080140		2189	4291	6480	70114729	SO:0001587	stop_gained	10720	exon1			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.301C>T	4.37:g.70080140G>A	ENSP00000387683:p.Arg101*		70114729	NM_001073	Q3KNV9	Nonsense_Mutation	SNP	ENST00000446444.1	37	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	9.424	1.083690	0.20309	.	.	ENSG00000213759	ENST00000446444	.	.	.	1.77	-3.54	0.04653	.	0.644350	0.13601	U	0.375824	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	1.7187	0.02907	0.1483:0.3172:0.3601:0.1745	.	.	.	.	X	101	.	ENSP00000387683:R101X	R	-	1	2	UGT2B11	70114729	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.943000	0.03917	-0.994000	0.03463	0.184000	0.17185	CGA		0.299	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
CSN2	1447	broad.mit.edu	37	4	70823463	70823463	+	Silent	SNP	G	G	A	rs146872617		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:70823463G>A	ENST00000353151.3	-	5	215	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.F68F(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TAGGTTCAACGAATGGATAGA	0.463																																					p.F68F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C204T	4						.	G		1,4405	2.1+/-5.4	0,1,2202	112.0	111.0	111.0		204	-8.6	0.0	4	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	CSN2	NM_001891.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		68/227	70823463	1,13005	2203	4300	6503	70858052	SO:0001819	synonymous_variant	1447	exon5			X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.204C>T	4.37:g.70823463G>A			70858052	NM_001891	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Silent	SNP	ENST00000353151.3	37	CCDS3532.1																																																																																				0.463	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1		
PROL1	58503	broad.mit.edu	37	4	71275490	71275490	+	Missense_Mutation	SNP	G	G	A	rs139826053	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:71275490G>A	ENST00000399575.2	+	3	619	c.445G>A	c.(445-447)Gca>Aca	p.A149T	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	149	Thr-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)	p.A149T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CATCACCACCGCAGATACAAC	0.443													G|||	2	0.000399361	0.0	0.0	5008	,	,		19611	0.002		0.0	False		,,,				2504	0.0				p.A149T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G445A	4						.	G	THR/ALA	0,3962		0,0,1981	188.0	212.0	204.0		445	-2.6	0.0	4	dbSNP_134	204	1,8329		0,1,4164	yes	missense	PROL1	NM_021225.4	58	0,1,6145	AA,AG,GG		0.012,0.0,0.0081	benign	149/249	71275490	1,12291	1981	4165	6146	71310079	SO:0001583	missense	58503	exon3			S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.445G>A	4.37:g.71275490G>A	ENSP00000382485:p.Ala149Thr		71310079	NM_021225	A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	CCDS43235.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	3.948	-0.012792	0.07727	0.0	1.2E-4	ENSG00000171199	ENST00000399575	T	0.40476	1.03	2.4	-2.58	0.06228	.	.	.	.	.	T	0.18923	0.0454	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21793	-1.0235	9	0.23891	T	0.37	.	7.677	0.28492	0.4094:0.0:0.5906:0.0	.	149	Q99935	PROL1_HUMAN	T	149	ENSP00000382485:A149T	ENSP00000382485:A149T	A	+	1	0	PROL1	71310079	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.508000	0.06344	-0.746000	0.04766	-1.936000	0.00505	GCA		0.443	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225	
IGJ	3512	broad.mit.edu	37	4	71527815	71527815	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:71527815C>T	ENST00000254801.4	-	2	351	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Missense_Mutation_p.R77Q	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	61					adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|dimeric IgA immunoglobulin complex (GO:0071750)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|pentameric IgM immunoglobulin complex (GO:0071756)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)	p.R61Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			ATACATAATTCGGATGTTTCT	0.398																																					p.R61Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G182A	4						.						146.0	141.0	143.0					4																	71527815		2203	4300	6503	71746679	SO:0001583	missense	3512	exon2			M12759	CCDS3545.1	4q21	2012-10-02			ENSG00000132465	ENSG00000132465		"""Immunoglobulins / IGJ linker"""	5713	protein-coding gene	gene with protein product	"""immunoglobulin J chain"", ""IgJ chain"""	147790				3016707, 2984306	Standard	NM_144646		Approved	IGCJ, JCH	uc003hfn.4	P01591	OTTHUMG00000129909	ENST00000254801.4:c.182G>A	4.37:g.71527815C>T	ENSP00000254801:p.Arg61Gln		71746679	NM_144646		Missense_Mutation	SNP	ENST00000254801.4	37	CCDS3545.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500367	0.64298	.	.	ENSG00000132465	ENST00000254801;ENST00000510437;ENST00000543780;ENST00000510614;ENST00000391614;ENST00000470866	.	.	.	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000039	T	0.67401	0.2889	L	0.36672	1.1	0.37448	D	0.914689	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.68930	-0.5279	9	0.37606	T	0.19	.	16.1719	0.81822	0.0:1.0:0.0:0.0	.	77;61	D6RHJ6;P01591	.;IGJ_HUMAN	Q	61;61;77;70;77;61	.	ENSP00000254801:R61Q	R	-	2	0	IGJ	71746679	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	3.296000	0.51802	2.554000	0.86153	0.650000	0.86243	CGA		0.398	IGJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252160.1	NM_144646	
UTP3	57050	broad.mit.edu	37	4	71554485	71554485	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:71554485G>T	ENST00000254803.2	+	1	290	c.91G>T	c.(91-93)Gat>Tat	p.D31Y		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	31					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAATGGAGATGATTTAGGATT	0.592																																					p.D31Y												.	.	0			c.G91T	4						.						62.0	59.0	60.0					4																	71554485		2203	4300	6503	71773349	SO:0001583	missense	57050	exon1			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.91G>T	4.37:g.71554485G>T	ENSP00000254803:p.Asp31Tyr		71773349	NM_020368	Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	G	5.368	0.253130	0.10185	.	.	ENSG00000132467	ENST00000254803	T	0.37584	1.19	5.06	1.12	0.20585	.	0.949164	0.08842	N	0.885737	T	0.25044	0.0608	L	0.44542	1.39	0.09310	N	1	P	0.44090	0.826	B	0.34722	0.188	T	0.18493	-1.0335	10	0.72032	D	0.01	-17.0468	4.7461	0.13038	0.1664:0.0:0.5371:0.2966	.	31	Q9NQZ2	SAS10_HUMAN	Y	31	ENSP00000254803:D31Y	ENSP00000254803:D31Y	D	+	1	0	UTP3	71773349	0.125000	0.22332	0.001000	0.08648	0.005000	0.04900	2.681000	0.46926	0.164000	0.19529	-0.142000	0.14014	GAT		0.592	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368	
UTP3	57050	broad.mit.edu	37	4	71555757	71555757	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:71555757C>T	ENST00000254803.2	+	1	1562	c.1363C>T	c.(1363-1365)Cgt>Tgt	p.R455C		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	455					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R455C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TCGTGAAGTTCGTAAAGAAGA	0.393																																					p.R455C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1363T	4						.						143.0	149.0	147.0					4																	71555757		2203	4300	6503	71774621	SO:0001583	missense	57050	exon1			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.1363C>T	4.37:g.71555757C>T	ENSP00000254803:p.Arg455Cys		71774621	NM_020368	Q6FI82	Missense_Mutation	SNP	ENST00000254803.2	37	CCDS3546.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592777	0.86953	.	.	ENSG00000132467	ENST00000254803	T	0.37058	1.22	5.46	5.46	0.80206	Something about silencing protein 10 (Sas10), C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79448	-0.1799	10	0.87932	D	0	-4.7035	19.6793	0.95956	0.0:1.0:0.0:0.0	.	455	Q9NQZ2	SAS10_HUMAN	C	455	ENSP00000254803:R455C	ENSP00000254803:R455C	R	+	1	0	UTP3	71774621	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	5.340000	0.65958	2.713000	0.92767	0.655000	0.94253	CGT		0.393	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368	
MOB1B	92597	broad.mit.edu	37	4	71824642	71824642	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:71824642T>C	ENST00000309395.2	+	2	267	c.66T>C	c.(64-66)ggT>ggC	p.G22G	MOB1B_ENST00000396051.2_Silent_p.G27G|MOB1B_ENST00000511449.1_3'UTR	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	22					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.G22G(1)									TTCCAGAGGGTTCTCACCAGT	0.403																																					p.G22G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T66C	4						.						98.0	99.0	99.0					4																	71824642		2203	4300	6503	72043506	SO:0001819	synonymous_variant	92597	exon2			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.66T>C	4.37:g.71824642T>C			72043506	NM_173468	B2R8U6|B4DRY3|Q8IY23	Silent	SNP	ENST00000309395.2	37	CCDS34002.1																																																																																				0.403	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468	
ANKRD17	26057	broad.mit.edu	37	4	74000848	74000848	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:74000848C>A	ENST00000358602.4	-	16	3336	c.3220G>T	c.(3220-3222)Gat>Tat	p.D1074Y	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D823Y|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D961Y	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1074					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D1074Y(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCATCAATATCAATGGCAGGG	0.398																																					p.D823Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2467T	4						.						160.0	144.0	149.0					4																	74000848		2203	4300	6503	74219712	SO:0001583	missense	26057	exon15			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3220G>T	4.37:g.74000848C>A	ENSP00000351416:p.Asp1074Tyr		74219712	NM_198889	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.089325|4.089325	0.76756|0.76756	.|.	.|.	ENSG00000132466|ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867;ENST00000411811|ENST00000426990	T;T;T|.	0.71341|.	-0.56;-0.53;-0.54|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Ankyrin repeat-containing domain (2);|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.72195|0.72195	0.3430|0.3430	M|M	0.73598|0.73598	2.24|2.24	0.48341|0.48341	D|D	0.999637|0.999637	D;D;D;D;D|.	0.89917|.	0.999;0.968;1.0;0.996;1.0|.	D;P;D;P;D|.	0.91635|.	0.986;0.697;0.996;0.868;0.999|.	T|T	0.67518|0.67518	-0.5650|-0.5650	10|6	0.72032|0.10111	D|T	0.01|0.7	.|.	18.7957|18.7957	0.91993|0.91993	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	595;1073;823;1074;961|.	B4DR08;O75179-2;G5E964;O75179;E7EUV3|.	.;.;.;ANR17_HUMAN;.|.	Y|F	1074;823;961;1074|997	ENSP00000351416:D1074Y;ENSP00000332265:D823Y;ENSP00000427151:D961Y|.	ENSP00000332265:D823Y|ENSP00000416376:L997F	D|L	-|-	1|3	0|2	ANKRD17|ANKRD17	74219712|74219712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.074000|7.074000	0.76791|0.76791	2.436000|2.436000	0.82500|0.82500	0.650000|0.650000	0.86243|0.86243	GAT|TTG		0.398	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
ALB	213	broad.mit.edu	37	4	74279174	74279174	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:74279174C>T	ENST00000503124.1	+	6	638	c.431C>T	c.(430-432)tCg>tTg	p.S144L	ALB_ENST00000415165.2_Missense_Mutation_p.S102L|ALB_ENST00000509063.1_Missense_Mutation_p.S294L|ALB_ENST00000295897.4_Missense_Mutation_p.S294L|ALB_ENST00000401494.3_Missense_Mutation_p.S179L|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)		p.S294L(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATCAAGATTCGATCTCCAGT	0.423																																					p.S294L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C881T	4						.						97.0	94.0	95.0					4																	74279174		2203	4300	6503	74498038	SO:0001583	missense	213	exon8			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.431C>T	4.37:g.74279174C>T	ENSP00000421027:p.Ser144Leu		74498038	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.	.	.	.	.	.	.	.	.	.	C	10.05	1.244651	0.22796	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	6.02	3.25	0.37280	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.305960	0.05191	N	0.503146	T	0.65698	0.2716	L	0.60455	1.87	0.09310	N	1	P;B;B;B;B	0.52842	0.956;0.324;0.324;0.449;0.449	B;B;B;B;B	0.40009	0.316;0.027;0.042;0.053;0.027	T	0.54549	-0.8277	10	0.72032	D	0.01	-0.6139	4.5748	0.12228	0.3999:0.3998:0.1293:0.071	.	179;102;144;294;294	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	L	294;102;144;294;179;303	ENSP00000295897:S294L;ENSP00000401820:S102L;ENSP00000421027:S144L;ENSP00000422784:S294L;ENSP00000384695:S179L	ENSP00000295897:S294L	S	+	2	0	ALB	74498038	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.062000	0.11674	0.370000	0.24538	0.650000	0.86243	TCG		0.423	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
BTC	685	broad.mit.edu	37	4	75681101	75681101	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:75681101G>A	ENST00000395743.3	-	3	609	c.249C>T	c.(247-249)cgC>cgT	p.R83R		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	83	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)	p.R83R(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CCACCACGAAGCGGCATCTCC	0.547																																					p.R83R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249T	4						.						191.0	172.0	178.0					4																	75681101		2203	4300	6503	75900125	SO:0001819	synonymous_variant	685	exon3			S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.249C>T	4.37:g.75681101G>A			75900125	NM_001729	Q96F48	Silent	SNP	ENST00000395743.3	37	CCDS3566.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380918	0.24944	.	.	ENSG00000174808	ENST00000512743	.	.	.	4.69	-0.647	0.11468	.	.	.	.	.	T	0.53642	0.1809	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46176	-0.9210	4	.	.	.	-1.8586	7.5484	0.27781	0.1711:0.4446:0.3842:0.0	.	.	.	.	V	62	.	.	A	-	2	0	BTC	75900125	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	0.448000	0.21726	-0.019000	0.14055	-0.165000	0.13383	GCT		0.547	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1		
G3BP2	9908	broad.mit.edu	37	4	76570885	76570885	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:76570885G>A	ENST00000359707.4	-	12	1963	c.1178C>T	c.(1177-1179)cCg>cTg	p.P393L	G3BP2_ENST00000395719.3_Splice_Site_p.P393L|G3BP2_ENST00000357854.3_Splice_Site_p.P360L	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	393	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)	p.P393L(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACATAATCGGCTTTATAAA	0.393																																					p.P360L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1079T	4						.						95.0	88.0	91.0					4																	76570885		2203	4300	6503	76789909	SO:0001630	splice_region_variant	9908	exon11			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1177-1C>T	4.37:g.76570885G>A			76789909	NM_203504	A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659121	0.47467	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	D;D;D	0.85258	-1.96;-1.96;-1.96	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.044854	0.85682	D	0.000000	D	0.92061	0.7484	M	0.62209	1.925	0.80722	D	1	D;P	0.89917	1.0;0.582	D;B	0.87578	0.998;0.216	D	0.91515	0.5230	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	360;393	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	L	393;393;360	ENSP00000379069:P393L;ENSP00000352738:P393L;ENSP00000350518:P360L	ENSP00000350518:P360L	P	-	2	0	G3BP2	76789909	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	CCG		0.393	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297	Missense_Mutation
USO1	8615	broad.mit.edu	37	4	76708221	76708221	+	Missense_Mutation	SNP	C	C	T	rs370383563		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:76708221C>T	ENST00000538159.1	+	10	868	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	USO1_ENST00000514213.2_Missense_Mutation_p.R273C			O60763	USO1_HUMAN	USO1 vesicle transport factor	288	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.R290C(1)|p.R216C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAGCTTGTTCGTGTATTGGT	0.413																																					p.F237F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C711T	4						.	C	CYS/ARG	0,3706		0,0,1853	116.0	107.0	110.0		739	5.7	1.0	4		110	1,8205		0,1,4102	no	missense	USO1	NM_003715.2	180	0,1,5955	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	247/922	76708221	1,11911	1853	4103	5956	76927245	SO:0001583	missense	8615	exon8			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.868C>T	4.37:g.76708221C>T	ENSP00000440586:p.Arg290Cys		76927245	NM_003715	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37		.	.	.	.	.	.	.	.	.	.	C	27.0	4.788313	0.90367	0.0	1.22E-4	ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	T;T	0.52295	0.67;0.67	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.979;0.947	T	0.78102	-0.2335	10	0.87932	D	0	.	18.0501	0.89345	0.0:1.0:0.0:0.0	.	290;288	F5GYR8;O60763	.;USO1_HUMAN	C	123;290;273;216	ENSP00000440586:R290C;ENSP00000444850:R273C	ENSP00000264904:R216C	R	+	1	0	USO1	76927245	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.286000	0.78671	2.684000	0.91462	0.650000	0.86243	CGT		0.413	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715	
USO1	8615	broad.mit.edu	37	4	76721583	76721583	+	Missense_Mutation	SNP	C	C	T	rs201356959		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:76721583C>T	ENST00000538159.1	+	16	1670	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L	USO1_ENST00000514213.2_Missense_Mutation_p.S533L			O60763	USO1_HUMAN	USO1 vesicle transport factor	548	Globular head.				ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.S476L(1)|p.S557L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGGGCATTTCGATTTATTTC	0.368																																					p.R498X												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1492T	4						.	C	LEU/SER	0,3694		0,0,1847	96.0	83.0	87.0		1520	5.0	1.0	4		87	1,8207		0,1,4103	yes	missense	USO1	NM_003715.2	145	0,1,5950	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	507/922	76721583	1,11901	1847	4104	5951	76940607	SO:0001583	missense	8615	exon13			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.1670C>T	4.37:g.76721583C>T	ENSP00000440586:p.Ser557Leu		76940607	NM_003715	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.542719|3.542719	0.65198|0.65198	0.0|0.0	1.22E-4|1.22E-4	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|T;T	.|0.58652	.|0.32;0.32	5.83|5.83	4.96|4.96	0.65561|0.65561	.|Vesicle tethering protein Uso1/P115-like , head domain (1);Armadillo-type fold (1);	.|0.169454	.|0.51477	.|D	.|0.000088	.|T	.|0.35307	.|0.0927	N|N	0.03608|0.03608	-0.345|-0.345	0.45822|0.45822	D|D	0.998697|0.998697	.|B;P	.|0.47841	.|0.171;0.901	.|B;B	.|0.40256	.|0.028;0.324	.|T	.|0.46062	.|-0.9218	.|10	.|0.51188	.|T	.|0.08	.|.	15.3913|15.3913	0.74747|0.74747	0.0:0.7407:0.2593:0.0|0.0:0.7407:0.2593:0.0	.|.	.|557;548	.|F5GYR8;O60763	.|.;USO1_HUMAN	X|L	224|383;557;533;476	.|ENSP00000440586:S557L;ENSP00000444850:S533L	.|ENSP00000264904:S476L	R|S	+|+	1|2	2|0	USO1|USO1	76940607|76940607	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.974000|0.974000	0.67602|0.67602	3.827000|3.827000	0.55745|0.55745	2.757000|2.757000	0.94681|0.94681	0.563000|0.563000	0.77884|0.77884	CGA|TCG		0.368	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715	
USO1	8615	broad.mit.edu	37	4	76722346	76722346	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:76722346G>A	ENST00000538159.1	+	18	2006	c.2006G>A	c.(2005-2007)cGa>cAa	p.R669Q	USO1_ENST00000514213.2_Missense_Mutation_p.R645Q			O60763	USO1_HUMAN	USO1 vesicle transport factor	660					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.R588Q(1)|p.R669Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AATATGATTCGAGAGCAGGTA	0.338																																					p.E610K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1828A	4						.						77.0	70.0	72.0					4																	76722346		1847	4090	5937	76941370	SO:0001583	missense	8615	exon15			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2006G>A	4.37:g.76722346G>A	ENSP00000440586:p.Arg669Gln		76941370	NM_003715	B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	ENST00000538159.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.786272|4.786272	0.90282|0.90282	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000441296|ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904	.|T;T	.|0.65549	.|-0.16;-0.16	5.61|5.61	4.77|4.77	0.60923|0.60923	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77870|0.77870	0.4195|0.4195	M|M	0.76170|0.76170	2.325|2.325	0.53005|0.53005	D|D	0.999967|0.999967	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	T|T	0.78344|0.78344	-0.2240|-0.2240	5|10	.|0.41790	.|T	.|0.15	.|.	14.5682|14.5682	0.68194|0.68194	0.0704:0.0:0.9296:0.0|0.0704:0.0:0.9296:0.0	.|.	.|669;660	.|F5GYR8;O60763	.|.;USO1_HUMAN	K|Q	336|495;669;645;588	.|ENSP00000440586:R669Q;ENSP00000444850:R645Q	.|ENSP00000264904:R588Q	E|R	+|+	1|2	0|0	USO1|USO1	76941370|76941370	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	7.386000|7.386000	0.79775|0.79775	1.378000|1.378000	0.46305|0.46305	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.338	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003715	
PPEF2	5470	broad.mit.edu	37	4	76785646	76785646	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:76785646C>T	ENST00000286719.7	-	16	2311	c.1955G>A	c.(1954-1956)cGa>cAa	p.R652Q		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	652	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.R652Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGATCGGTTTCGATACAATGT	0.333																																					p.R652Q	NSCLC(105;1359 1603 15961 44567 47947)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1955A	4						.						197.0	182.0	187.0					4																	76785646		2203	4300	6503	77004670	SO:0001583	missense	5470	exon16			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1955G>A	4.37:g.76785646C>T	ENSP00000286719:p.Arg652Gln		77004670	NM_006239	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466048	0.63625	.	.	ENSG00000156194	ENST00000286719	T	0.42513	0.97	6.03	5.19	0.71726	EF-hand-like domain (1);	0.108239	0.64402	D	0.000019	T	0.47875	0.1469	M	0.87827	2.91	0.37950	D	0.932634	B	0.30193	0.272	B	0.20955	0.032	T	0.57510	-0.7799	10	0.59425	D	0.04	-1.0868	12.8359	0.57773	0.0:0.9218:0.0:0.0782	.	652	O14830	PPE2_HUMAN	Q	652	ENSP00000286719:R652Q	ENSP00000286719:R652Q	R	-	2	0	PPEF2	77004670	1.000000	0.71417	0.934000	0.37439	0.916000	0.54674	2.793000	0.47845	1.557000	0.49525	0.555000	0.69702	CGA		0.333	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
PPEF2	5470	broad.mit.edu	37	4	76788552	76788552	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:76788552G>A	ENST00000286719.7	-	14	2026	c.1670C>T	c.(1669-1671)tCg>tTg	p.S557L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	557					detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)	p.S557*(1)|p.S557L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCAGAGCCGACTCCTCCAC	0.398																																					p.S557L	NSCLC(105;1359 1603 15961 44567 47947)											.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.C1670T	4						.						58.0	60.0	60.0					4																	76788552		2203	4300	6503	77007576	SO:0001583	missense	5470	exon14			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1670C>T	4.37:g.76788552G>A	ENSP00000286719:p.Ser557Leu		77007576	NM_006239	O14831	Missense_Mutation	SNP	ENST00000286719.7	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021533	0.93462	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.44083	0.93	6.04	6.04	0.98038	.	1.047520	0.07417	N	0.893347	T	0.69691	0.3139	M	0.73962	2.25	0.53688	D	0.999979	P;D	0.89917	0.886;1.0	P;D	0.80764	0.574;0.994	T	0.58819	-0.7569	10	0.52906	T	0.07	-2.7011	18.073	0.89417	0.0:0.0:1.0:0.0	.	557;557	O14830-2;O14830	.;PPE2_HUMAN	L	557	ENSP00000286719:S557L	ENSP00000286719:S557L	S	-	2	0	PPEF2	77007576	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.088000	0.94132	2.873000	0.98535	0.561000	0.74099	TCG		0.398	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239	
SDAD1	55153	broad.mit.edu	37	4	76877273	76877273	+	Missense_Mutation	SNP	C	C	T	rs557777418		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:76877273C>T	ENST00000356260.5	-	21	1989	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	AC110615.1_ENST00000599764.1_Missense_Mutation_p.R73W|SDAD1_ENST00000395711.4_Missense_Mutation_p.R587Q	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	624					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)		p.R624Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAATTCTTTTCGGTCTGTCTT	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		21910	0.0		0.0	False		,,,				2504	0.001				p.R624Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1871A	4						.						134.0	124.0	127.0					4																	76877273		2203	4300	6503	77096297	SO:0001583	missense	55153	exon21			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1871G>A	4.37:g.76877273C>T	ENSP00000348596:p.Arg624Gln		77096297	NM_018115	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821934	0.71028	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.36699	1.24;1.24	4.79	4.79	0.61399	SDA1 (1);	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	M	0.90198	3.095	0.54753	D	0.999983	P;P	0.50369	0.934;0.934	B;B	0.42361	0.385;0.385	T	0.63418	-0.6642	10	0.87932	D	0	-8.749	13.5389	0.61662	0.0:1.0:0.0:0.0	.	587;624	E7EW05;Q9NVU7	.;SDA1_HUMAN	Q	624;587	ENSP00000348596:R624Q;ENSP00000379061:R587Q	ENSP00000348596:R624Q	R	-	2	0	SDAD1	77096297	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.193000	0.77780	2.656000	0.90262	0.563000	0.77884	CGA		0.348	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115	
SHROOM3	57619	broad.mit.edu	37	4	77660971	77660971	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:77660971A>G	ENST00000296043.6	+	5	2598	c.1645A>G	c.(1645-1647)Aca>Gca	p.T549A		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	549					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.T548A(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACCAGAAGCTACAGCCAAGTA	0.522																																					p.T549A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1645G	4						.						158.0	162.0	161.0					4																	77660971		2203	4300	6503	77879995	SO:0001583	missense	57619	exon5			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1645A>G	4.37:g.77660971A>G	ENSP00000296043:p.Thr549Ala		77879995	NM_020859	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	A	1.754	-0.488546	0.04352	.	.	ENSG00000138771	ENST00000296043	T	0.19394	2.15	5.59	-7.38	0.01407	.	1.384070	0.04626	N	0.402719	T	0.08846	0.0219	N	0.19112	0.55	0.09310	N	1	B;B;B	0.15473	0.013;0.001;0.01	B;B;B	0.14023	0.01;0.001;0.001	T	0.29731	-1.0002	10	0.10377	T	0.69	0.0516	2.7609	0.05306	0.2391:0.2796:0.3593:0.122	.	373;549;327	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	A	549	ENSP00000296043:T549A	ENSP00000296043:T549A	T	+	1	0	SHROOM3	77879995	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.304000	0.08199	-0.830000	0.04262	-0.376000	0.06991	ACA		0.522	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
CXCL13	10563	broad.mit.edu	37	4	78528951	78528951	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:78528951C>A	ENST00000286758.4	+	3	237	c.159C>A	c.(157-159)atC>atA	p.I53I		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	53					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)	p.I53I(1)		large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GAATTCAAATCTTGCCCCGTG	0.383																																					p.I53I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C159A	4						.						121.0	111.0	114.0					4																	78528951		2203	4300	6503	78747975	SO:0001819	synonymous_variant	10563	exon3			AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"""Endogenous ligands"""	10639	protein-coding gene	gene with protein product	"""B-cell chemoattractant"""	605149	"""small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"""	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.159C>A	4.37:g.78528951C>A			78747975	NM_006419		Silent	SNP	ENST00000286758.4	37	CCDS3582.1																																																																																				0.383	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1		
MRPL1	65008	broad.mit.edu	37	4	78804425	78804425	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:78804425A>C	ENST00000315567.8	+	3	502	c.173A>C	c.(172-174)aAa>aCa	p.K58T	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	58					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.K58T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAAGGTGCTAAAGAAAAAACA	0.284																																					p.K58T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A173C	4						.						35.0	37.0	36.0					4																	78804425		2199	4298	6497	79023449	SO:0001583	missense	65008	exon3			AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.173A>C	4.37:g.78804425A>C	ENSP00000315017:p.Lys58Thr		79023449	NM_020236	A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	CCDS3583.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.08|14.08	2.427531|2.427531	0.43122|0.43122	.|.	.|.	ENSG00000169288|ENSG00000169288	ENST00000315567;ENST00000538314|ENST00000502384	T|.	0.47528|.	0.84|.	6.14|6.14	6.14|6.14	0.99180|0.99180	Ribosomal protein L1, chordata (1);|.	0.208599|.	0.49305|.	D|.	0.000160|.	T|.	0.75376|.	0.3841|.	M|M	0.74258|0.74258	2.255|2.255	0.52099|0.52099	D|D	0.999945|0.999945	D|.	0.69078|.	0.997|.	D|.	0.63793|.	0.918|.	T|.	0.75227|.	-0.3392|.	10|.	0.30854|.	T|.	0.27|.	-24.3296|-24.3296	15.7885|15.7885	0.78332|0.78332	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	58|.	Q9BYD6|.	RM01_HUMAN|.	T|Y	58;36|11	ENSP00000315017:K58T|.	ENSP00000315017:K58T|.	K|X	+|+	2|3	0|2	MRPL1|MRPL1	79023449|79023449	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.279000|0.279000	0.26890|0.26890	6.059000|6.059000	0.71133|0.71133	2.367000|2.367000	0.80283|0.80283	0.529000|0.529000	0.55759|0.55759	AAA|TAA		0.284	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3	NM_020236	
FRAS1	80144	broad.mit.edu	37	4	79428588	79428588	+	Silent	SNP	C	C	A	rs376083444		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:79428588C>A	ENST00000264895.6	+	62	9770	c.9330C>A	c.(9328-9330)atC>atA	p.I3110I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3106	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.I3110I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGATCATATCTTTTTTAAAG	0.468																																					p.I3110I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9330A	4						.	C		0,3896		0,0,1948	97.0	90.0	92.0		9330	1.3	1.0	4		92	1,8271		0,1,4135	no	coding-synonymous	FRAS1	NM_025074.6		0,1,6083	AA,AC,CC		0.0121,0.0,0.0082		3110/4013	79428588	1,12167	1948	4136	6084	79647612	SO:0001819	synonymous_variant	80144	exon62			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9330C>A	4.37:g.79428588C>A			79647612	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	7.829	0.719489	0.15372	0.0	1.21E-4	ENSG00000138759	ENST00000512123	.	.	.	5.25	1.26	0.21427	.	.	.	.	.	T	0.53094	0.1775	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38714	-0.9648	4	.	.	.	.	5.8758	0.18828	0.4288:0.4321:0.0:0.1391	.	.	.	.	I	1339	.	.	L	+	1	0	FRAS1	79647612	0.262000	0.24073	0.987000	0.45799	0.919000	0.55068	0.594000	0.24014	-0.025000	0.13918	-0.218000	0.12543	CTT		0.468	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
BMP2K	55589	broad.mit.edu	37	4	79832683	79832683	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:79832683G>A	ENST00000335016.5	+	16	3148	c.2982G>A	c.(2980-2982)ggG>ggA	p.G994G	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	994					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.G994G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAAGTAATGGGAAGCGGCATC	0.522																																					p.G994G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2982A	4						.						69.0	67.0	68.0					4																	79832683		1938	4140	6078	80051707	SO:0001819	synonymous_variant	55589	exon16			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2982G>A	4.37:g.79832683G>A			80051707	NM_198892	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	G	4.110	0.018478	0.07959	.	.	ENSG00000138756	ENST00000502613	.	.	.	5.41	3.63	0.41609	.	.	.	.	.	T	0.59783	0.2219	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54563	-0.8275	4	.	.	.	-12.8765	9.9333	0.41537	0.0717:0.4002:0.5281:0.0	.	.	.	.	K	687	.	.	E	+	1	0	BMP2K	80051707	0.964000	0.33143	0.999000	0.59377	0.712000	0.41017	0.058000	0.14301	0.614000	0.30107	0.484000	0.47621	GAA		0.522	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593	
PAQR3	152559	broad.mit.edu	37	4	79841702	79841702	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:79841702T>C	ENST00000512733.1	-	6	1140	c.927A>G	c.(925-927)tcA>tcG	p.S309S	PAQR3_ENST00000515541.1_Intron|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	309					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S309S(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TTCACAAATGTGAAACATAGT	0.383																																					p.S309S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A927G	4						.						177.0	149.0	159.0					4																	79841702		2203	4300	6503	80060726	SO:0001819	synonymous_variant	152559	exon6			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.927A>G	4.37:g.79841702T>C			80060726	NM_001040202	A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Silent	SNP	ENST00000512733.1	37	CCDS34020.1																																																																																				0.383	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453	
GK2	2712	broad.mit.edu	37	4	80328947	80328947	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:80328947G>A	ENST00000358842.3	-	1	425	c.408C>T	c.(406-408)ttC>ttT	p.F136F		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.F136F(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TAGACTTGACGAAGTTACTAT	0.428																																					p.F136F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C408T	4						.						136.0	135.0	135.0					4																	80328947		2203	4300	6503	80547971	SO:0001819	synonymous_variant	2712	exon1			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.408C>T	4.37:g.80328947G>A			80547971	NM_033214	Q7Z4Q4	Silent	SNP	ENST00000358842.3	37	CCDS3585.1																																																																																				0.428	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214	
ANTXR2	118429	broad.mit.edu	37	4	80976610	80976610	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:80976610T>G	ENST00000307333.7	-	5	392	c.390A>C	c.(388-390)caA>caC	p.Q130H	ANTXR2_ENST00000295465.4_Missense_Mutation_p.Q130H|ANTXR2_ENST00000346652.6_Missense_Mutation_p.Q130H|ANTXR2_ENST00000404191.1_Missense_Mutation_p.Q53H|ANTXR2_ENST00000403729.2_Missense_Mutation_p.Q130H	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	130	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.Q130H(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CTTTCTGAATTTGTTCATTCG	0.383									Juvenile Hyaline Fibromatosis																												p.Q130H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A390C	4						.						72.0	67.0	68.0					4																	80976610		1854	4086	5940	81195634	SO:0001583	missense	118429	exon5	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.390A>C	4.37:g.80976610T>G	ENSP00000306185:p.Gln130His		81195634	NM_001145794	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749800	0.69533	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000346652;ENST00000307333;ENST00000295465	D;T;D;D;D	0.83506	-1.73;2.55;-1.73;-1.73;-1.73	5.6	1.9	0.25705	von Willebrand factor, type A (3);	0.112935	0.64402	D	0.000007	D	0.90369	0.6986	M	0.87097	2.86	0.44061	D	0.996809	P;D;D	0.89917	0.938;1.0;1.0	P;D;D	0.85130	0.685;0.997;0.995	D	0.89376	0.3678	10	0.72032	D	0.01	-2.9332	9.5479	0.39293	0.0:0.2732:0.0:0.7268	.	130;130;130	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	H	130;53;130;130;130	ENSP00000385575:Q130H;ENSP00000384028:Q53H;ENSP00000314883:Q130H;ENSP00000306185:Q130H;ENSP00000295465:Q130H	ENSP00000295465:Q130H	Q	-	3	2	ANTXR2	81195634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.459000	0.35234	0.417000	0.25871	0.472000	0.43445	CAA		0.383	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172	
PRKG2	5593	broad.mit.edu	37	4	82010870	82010870	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:82010870C>A	ENST00000395578.1	-	19	2397	c.2281G>T	c.(2281-2283)Gac>Tac	p.D761Y	PRKG2_ENST00000418486.2_Missense_Mutation_p.D732Y|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.D341Y|PRKG2_ENST00000264399.1_Missense_Mutation_p.D761Y			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	761	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.D761Y(2)|p.D761N(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGTCAGAAGTCTTTATCCCAG	0.383																																					p.D761Y												.	.	4	Substitution - Missense(4)	large_intestine(2)|NS(2)	c.G2281T	4						.						87.0	84.0	85.0					4																	82010870		2203	4300	6503	82229894	SO:0001583	missense	5593	exon18			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.2281G>T	4.37:g.82010870C>A	ENSP00000378945:p.Asp761Tyr		82229894	NM_006259	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522604	0.85600	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.73258	-0.65;-0.65;-0.73;-0.4	5.65	5.65	0.86999	AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	M	0.87971	2.92	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.966	D	0.88388	0.3006	10	0.87932	D	0	-27.5107	18.4736	0.90783	0.0:1.0:0.0:0.0	.	732;761	E7EPE6;Q13237	.;KGP2_HUMAN	Y	761;761;732;341	ENSP00000378945:D761Y;ENSP00000264399:D761Y;ENSP00000389038:D732Y;ENSP00000439967:D341Y	ENSP00000264399:D761Y	D	-	1	0	PRKG2	82229894	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.360000	0.73064	2.654000	0.90174	0.585000	0.79938	GAC		0.383	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
PRKG2	5593	broad.mit.edu	37	4	82096077	82096077	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:82096077A>G	ENST00000395578.1	-	3	614	c.498T>C	c.(496-498)aaT>aaC	p.N166N	PRKG2_ENST00000418486.2_Silent_p.N166N|RP11-100N20.1_ENST00000512502.1_RNA|RP11-100N20.1_ENST00000505175.1_RNA|PRKG2_ENST00000264399.1_Silent_p.N166N			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	166					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.N166N(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCAGAAACTGATTTTTATTAA	0.348																																					p.N166N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T498C	4						.						140.0	140.0	140.0					4																	82096077		2203	4300	6503	82315101	SO:0001819	synonymous_variant	5593	exon2			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.498T>C	4.37:g.82096077A>G			82315101	NM_006259	B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	ENST00000395578.1	37	CCDS3589.1																																																																																				0.348	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259	
RASGEF1B	153020	broad.mit.edu	37	4	82378774	82378774	+	Splice_Site	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:82378774C>A	ENST00000264400.2	-	3	330	c.179G>T	c.(178-180)aGa>aTa	p.R60I	RASGEF1B_ENST00000335927.7_Intron|RASGEF1B_ENST00000509081.1_Splice_Site_p.R60I|RASGEF1B_ENST00000514889.1_5'Flank|RASGEF1B_ENST00000436139.2_Splice_Site_p.R60I	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	60	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R60I(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TATGTATGTTCTCTGCAGCAA	0.363																																					p.R60I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G179T	4						.						126.0	123.0	124.0					4																	82378774		2203	4300	6503	82597798	SO:0001630	splice_region_variant	153020	exon3			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.178-1G>T	4.37:g.82378774C>A			82597798	NM_152545	Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534814	0.85812	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000436139;ENST00000395570	T;T;T	0.28255	1.62;1.62;1.62	5.01	5.01	0.66863	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.77313	2.365	0.80722	D	1	D;P;P	0.89917	1.0;0.812;0.919	D;P;P	0.83275	0.996;0.673;0.781	T	0.57568	-0.7789	10	0.44086	T	0.13	.	18.4661	0.90755	0.0:1.0:0.0:0.0	.	60;60;60	Q8N437;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	I	60	ENSP00000425393:R60I;ENSP00000264400:R60I;ENSP00000398763:R60I	ENSP00000264400:R60I	R	-	2	0	RASGEF1B	82597798	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	4.458000	0.60095	2.764000	0.94973	0.655000	0.94253	AGA		0.363	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545	Missense_Mutation
THAP9	79725	broad.mit.edu	37	4	83839359	83839359	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:83839359G>A	ENST00000302236.5	+	5	2045	c.1994G>A	c.(1993-1995)cGa>cAa	p.R665Q	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	665					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.R665Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TCAATTGCTCGAAGGAAAGAC	0.393																																					p.R665Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1994A	4						.						93.0	93.0	93.0					4																	83839359		2203	4300	6503	84058383	SO:0001583	missense	79725	exon5			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1994G>A	4.37:g.83839359G>A	ENSP00000305533:p.Arg665Gln		84058383	NM_024672	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	4.530	0.098355	0.08681	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90004	-2.6	3.87	-0.97	0.10306	.	0.729810	0.11282	N	0.580227	T	0.78310	0.4263	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59010	-0.7534	10	0.13853	T	0.58	-1.7736	4.1908	0.10419	0.5309:0.0:0.2929:0.1762	.	665	Q9H5L6	THAP9_HUMAN	Q	665	ENSP00000305533:R665Q	ENSP00000305533:R665Q	R	+	2	0	THAP9	84058383	0.300000	0.24435	0.010000	0.14722	0.470000	0.32858	-0.055000	0.11807	-0.255000	0.09486	0.655000	0.94253	CGA		0.393	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	
HELQ	113510	broad.mit.edu	37	4	84347185	84347185	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:84347185A>C	ENST00000295488.3	-	14	2899	c.2737T>G	c.(2737-2739)Ttt>Gtt	p.F913V	HELQ_ENST00000510985.1_Missense_Mutation_p.F846V	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	913					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.F913V(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TTCCCAATAAAGCTTTCAGAG	0.378								Other identified genes with known or suspected DNA repair function																													p.F913V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2737G	4						.						159.0	163.0	162.0					4																	84347185		2203	4300	6503	84566209	SO:0001583	missense	113510	exon14			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2737T>G	4.37:g.84347185A>C	ENSP00000295488:p.Phe913Val		84566209	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.558968	0.65538	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.65916	0.13;-0.18	5.39	5.39	0.77823	.	0.105726	0.64402	D	0.000003	T	0.65913	0.2737	M	0.77103	2.36	0.80722	D	1	D;B	0.57257	0.979;0.012	B;B	0.44044	0.439;0.018	T	0.69165	-0.5217	10	0.34782	T	0.22	.	15.3852	0.74691	1.0:0.0:0.0:0.0	.	846;913	E3W980;Q8TDG4	.;HELQ_HUMAN	V	913;846	ENSP00000295488:F913V;ENSP00000424539:F846V	ENSP00000295488:F913V	F	-	1	0	HELQ	84566209	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.229000	0.89791	2.040000	0.60383	0.402000	0.26972	TTT		0.378	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
HELQ	113510	broad.mit.edu	37	4	84350812	84350812	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:84350812G>T	ENST00000295488.3	-	12	2545	c.2383C>A	c.(2383-2385)Ctc>Atc	p.L795I	HELQ_ENST00000510985.1_Missense_Mutation_p.L728I	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	795					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L795I(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATTTCCCAGAGACTTTTTTCT	0.318								Other identified genes with known or suspected DNA repair function																													p.L795I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2383A	4						.						63.0	60.0	61.0					4																	84350812		2201	4296	6497	84569836	SO:0001583	missense	113510	exon12			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2383C>A	4.37:g.84350812G>T	ENSP00000295488:p.Leu795Ile		84569836	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792628	0.50102	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.49432	0.78;0.78	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	M	0.69358	2.11	0.58432	D	0.999996	D;P	0.89917	1.0;0.64	D;B	0.80764	0.994;0.418	T	0.67530	-0.5647	10	0.56958	D	0.05	-3.4855	14.3391	0.66614	0.0735:0.0:0.9265:0.0	.	728;795	E3W980;Q8TDG4	.;HELQ_HUMAN	I	795;728	ENSP00000295488:L795I;ENSP00000424539:L728I	ENSP00000295488:L795I	L	-	1	0	HELQ	84569836	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.205000	0.58466	2.512000	0.84698	0.467000	0.42956	CTC		0.318	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
FAM175A	84142	broad.mit.edu	37	4	84393399	84393399	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:84393399C>A	ENST00000321945.7	-	4	366	c.258G>T	c.(256-258)aaG>aaT	p.K86N	FAM175A_ENST00000505489.1_5'UTR|FAM175A_ENST00000506553.1_Missense_Mutation_p.K37N	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	86	MPN-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)	p.K86N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ATAATATTTTCTTCAGTGCTT	0.264																																					p.K86N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G258T	4						.						54.0	50.0	51.0					4																	84393399		1758	3988	5746	84612423	SO:0001583	missense	84142	exon4			AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.258G>T	4.37:g.84393399C>A	ENSP00000369857:p.Lys86Asn		84612423	NM_139076	A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	ENST00000321945.7	37	CCDS3605.2	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239907	0.39598	.	.	ENSG00000163322	ENST00000321945;ENST00000506553;ENST00000511801	T;T	0.49139	0.79;0.79	5.08	5.08	0.68730	.	0.294942	0.36066	N	0.002809	T	0.54967	0.1891	L	0.46614	1.455	0.80722	D	1	D	0.55800	0.973	P	0.57244	0.816	T	0.55541	-0.8125	10	0.52906	T	0.07	-19.1884	11.9019	0.52688	0.0:0.9201:0.0:0.0799	.	86	Q6UWZ7	F175A_HUMAN	N	86;37;37	ENSP00000369857:K86N;ENSP00000426763:K37N	ENSP00000369857:K86N	K	-	3	2	FAM175A	84612423	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	3.192000	0.50989	2.350000	0.79820	0.585000	0.79938	AAG		0.264	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076	
WDFY3	23001	broad.mit.edu	37	4	85600239	85600239	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:85600239C>A	ENST00000295888.4	-	65	10387	c.9980G>T	c.(9979-9981)gGc>gTc	p.G3327V	WDFY3_ENST00000322366.6_Missense_Mutation_p.G3310V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3327	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.G3327V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCGTCAGAGCCACTGTCAGT	0.602																																					p.G3327V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9980T	4						.						59.0	62.0	61.0					4																	85600239		2203	4300	6503	85819263	SO:0001583	missense	23001	exon65			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9980G>T	4.37:g.85600239C>A	ENSP00000295888:p.Gly3327Val		85819263	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034007	0.35893	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64991	-0.13;-0.13	4.67	3.82	0.43975	WD40 repeat-like-containing domain (1);	0.159074	0.56097	N	0.000029	T	0.47060	0.1425	L	0.29908	0.895	0.80722	D	1	P	0.36065	0.535	B	0.27887	0.084	T	0.51364	-0.8715	10	0.54805	T	0.06	.	14.3149	0.66443	0.1493:0.8507:0.0:0.0	.	3327	Q8IZQ1	WDFY3_HUMAN	V	3310;3327	ENSP00000318466:G3310V;ENSP00000295888:G3327V	ENSP00000295888:G3327V	G	-	2	0	WDFY3	85819263	1.000000	0.71417	0.999000	0.59377	0.156000	0.22039	4.537000	0.60643	1.156000	0.42514	0.655000	0.94253	GGC		0.602	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
WDFY3	23001	broad.mit.edu	37	4	85711000	85711000	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:85711000C>T	ENST00000295888.4	-	22	3955	c.3548G>A	c.(3547-3549)cGa>cAa	p.R1183Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1183Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1183					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R1183Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTCTCCACATCGAAAGCGAGC	0.403																																					p.R1183Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3548A	4						.						121.0	114.0	117.0					4																	85711000		2203	4300	6503	85930024	SO:0001583	missense	23001	exon22			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3548G>A	4.37:g.85711000C>T	ENSP00000295888:p.Arg1183Gln		85930024	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346450	0.61073	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64085	-0.08;-0.08	4.85	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.50333	1.59	0.80722	D	1	P	0.34892	0.474	B	0.25614	0.062	T	0.53258	-0.8464	10	0.11485	T	0.65	.	18.3293	0.90263	0.0:1.0:0.0:0.0	.	1183	Q8IZQ1	WDFY3_HUMAN	Q	1183	ENSP00000318466:R1183Q;ENSP00000295888:R1183Q	ENSP00000295888:R1183Q	R	-	2	0	WDFY3	85930024	1.000000	0.71417	0.960000	0.40013	0.877000	0.50540	7.442000	0.80503	2.365000	0.80145	0.561000	0.74099	CGA		0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
ARHGAP24	83478	broad.mit.edu	37	4	86491748	86491748	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:86491748G>T	ENST00000395184.1	+	2	520	c.54G>T	c.(52-54)caG>caT	p.Q18H	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.Q18H	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	18					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.Q18H(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGGGCGGCAGAATGCCATCA	0.483																																					p.Q18H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G54T	4						.						93.0	79.0	84.0					4																	86491748		2203	4300	6503	86710772	SO:0001583	missense	83478	exon2			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.54G>T	4.37:g.86491748G>T	ENSP00000378611:p.Gln18His		86710772	NM_001025616	Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	ENST00000395184.1	37	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339622	0.24339	.	.	ENSG00000138639	ENST00000395184;ENST00000503995	T;T	0.12879	2.64;2.64	5.81	-9.85	0.00476	Pleckstrin homology-type (1);	0.685697	0.14894	N	0.292233	T	0.06234	0.0161	L	0.31578	0.945	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.13045	-1.0524	10	0.44086	T	0.13	.	5.4587	0.16604	0.0783:0.1971:0.4757:0.2488	.	18;18;163	Q8N264;Q8N264-4;Q8N264-5	RHG24_HUMAN;.;.	H	18	ENSP00000378611:Q18H;ENSP00000423206:Q18H	ENSP00000378611:Q18H	Q	+	3	2	ARHGAP24	86710772	0.000000	0.05858	0.078000	0.20375	0.716000	0.41182	-1.700000	0.01905	-2.099000	0.00849	-0.768000	0.03414	CAG		0.483	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305	
PTPN13	5783	broad.mit.edu	37	4	87614800	87614800	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:87614800C>T	ENST00000411767.2	+	6	670	c.607C>T	c.(607-609)Cga>Tga	p.R203*	PTPN13_ENST00000316707.6_Nonsense_Mutation_p.R203*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.R203*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.R203*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.R203*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	203					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.R203*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TATTCGAGATCGATTGCGAGG	0.358																																					p.R203X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C607T	4						.						69.0	69.0	69.0					4																	87614800		1840	4076	5916	87833824	SO:0001587	stop_gained	5783	exon6				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.607C>T	4.37:g.87614800C>T	ENSP00000407249:p.Arg203*		87833824	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	42	9.373598	0.99151	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.55	5.55	0.83447	.	0.000000	0.37669	N	0.002000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5941	0.56459	0.278:0.722:0.0:0.0	.	.	.	.	X	203;203;203;203;203;171	.	ENSP00000322675:R203X	R	+	1	2	PTPN13	87833824	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.673000	0.37534	2.617000	0.88574	0.557000	0.71058	CGA		0.358	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87720274	87720274	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:87720274A>G	ENST00000411767.2	+	42	6485	c.6422A>G	c.(6421-6423)gAa>gGa	p.E2141G	PTPN13_ENST00000316707.6_Missense_Mutation_p.E1950G|PTPN13_ENST00000427191.2_Missense_Mutation_p.E2122G|PTPN13_ENST00000436978.1_Missense_Mutation_p.E2146G|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2146G			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2141					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.E2146G(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGCCACAAGAAAAGAAGACT	0.318																																					p.E1950G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5849G	4						.						62.0	58.0	59.0					4																	87720274		1821	4076	5897	87939298	SO:0001583	missense	5783	exon39				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6422A>G	4.37:g.87720274A>G	ENSP00000407249:p.Glu2141Gly		87939298	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496600	0.26861	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.54279	0.58;0.61;0.69;0.58;0.61	5.53	2.78	0.32641	.	0.656368	0.13358	N	0.393843	T	0.36635	0.0974	L	0.47716	1.5	0.09310	N	1	B;B;B;B	0.34399	0.001;0.452;0.323;0.452	B;B;B;B	0.33454	0.003;0.164;0.079;0.164	T	0.15694	-1.0428	10	0.18710	T	0.47	.	1.4468	0.02366	0.3802:0.342:0.1136:0.1642	.	1950;2122;2141;2146	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	G	2122;2146;1950;2141;2146;2090	ENSP00000408368:E2122G;ENSP00000394794:E2146G;ENSP00000322675:E1950G;ENSP00000407249:E2141G;ENSP00000426626:E2146G	ENSP00000322675:E1950G	E	+	2	0	PTPN13	87939298	0.031000	0.19500	0.613000	0.29037	0.780000	0.44128	1.140000	0.31516	1.003000	0.39130	0.402000	0.26972	GAA		0.318	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87724918	87724918	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:87724918C>T	ENST00000411767.2	+	43	6625	c.6562C>T	c.(6562-6564)Ccc>Tcc	p.P2188S	PTPN13_ENST00000316707.6_Missense_Mutation_p.P1997S|PTPN13_ENST00000427191.2_Missense_Mutation_p.P2169S|PTPN13_ENST00000436978.1_Missense_Mutation_p.P2193S|PTPN13_ENST00000511467.1_Missense_Mutation_p.P2193S			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2188					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.P2193S(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAAAGTGCTTCCCTCTGGTAA	0.453																																					p.P1997S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5989T	4						.						171.0	162.0	165.0					4																	87724918		1915	4122	6037	87943942	SO:0001583	missense	5783	exon40				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6562C>T	4.37:g.87724918C>T	ENSP00000407249:p.Pro2188Ser		87943942	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716934	0.89205	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.18	5.18	0.71444	.	0.000000	0.49305	D	0.000148	T	0.40791	0.1131	M	0.75777	2.31	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.998;0.995;0.998	T	0.28138	-1.0053	10	0.72032	D	0.01	.	19.0623	0.93097	0.0:1.0:0.0:0.0	.	1997;2169;2188;2193	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	S	2169;2193;1997;2188;2193;2137	ENSP00000408368:P2169S;ENSP00000394794:P2193S;ENSP00000322675:P1997S;ENSP00000407249:P2188S;ENSP00000426626:P2193S	ENSP00000322675:P1997S	P	+	1	0	PTPN13	87943942	1.000000	0.71417	0.801000	0.32222	0.856000	0.48823	6.679000	0.74513	2.562000	0.86427	0.555000	0.69702	CCC		0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
PTPN13	5783	broad.mit.edu	37	4	87728979	87728979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:87728979C>T	ENST00000411767.2	+	45	7075	c.7012C>T	c.(7012-7014)Cga>Tga	p.R2338*	PTPN13_ENST00000316707.6_Nonsense_Mutation_p.R2147*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.R2319*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.R2343*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.R2343*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2338	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.R2343*(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAACAGACTTCGACTGGCTCT	0.453																																					p.R2147X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|central_nervous_system(1)	c.C6439T	4						.						95.0	94.0	95.0					4																	87728979		2012	4182	6194	87948003	SO:0001587	stop_gained	5783	exon42				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7012C>T	4.37:g.87728979C>T	ENSP00000407249:p.Arg2338*		87948003	NM_080684	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	ENST00000411767.2	37	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	50	17.246643	0.99882	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	5.66	5.66	0.87406	.	0.000000	0.47455	D	0.000239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7461	0.96252	0.0:1.0:0.0:0.0	.	.	.	.	X	2319;2343;2147;2338;2343;2287	.	ENSP00000322675:R2147X	R	+	1	2	PTPN13	87948003	1.000000	0.71417	0.857000	0.33713	0.824000	0.46624	4.631000	0.61304	2.645000	0.89757	0.650000	0.86243	CGA		0.453	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
AFF1	4299	broad.mit.edu	37	4	88052295	88052295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:88052295G>T	ENST00000307808.6	+	16	3424	c.3004G>T	c.(3004-3006)Gga>Tga	p.G1002*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.G1009*|AFF1_ENST00000544085.1_Nonsense_Mutation_p.G640*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1002					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G1009*(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CATTGAGTGCGGAATTGCCAC	0.458																																					p.G1009X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G3025T	4						.						214.0	198.0	203.0					4																	88052295		2203	4300	6503	88271319	SO:0001587	stop_gained	4299	exon17			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3004G>T	4.37:g.88052295G>T	ENSP00000305689:p.Gly1002*		88271319	NM_001166693	B4DTU1|E9PBM3	Nonsense_Mutation	SNP	ENST00000307808.6	37	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	40	8.159266	0.98683	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.5601	19.3509	0.94384	0.0:0.0:1.0:0.0	.	.	.	.	X	1009;1002;640	.	ENSP00000305689:G1002X	G	+	1	0	AFF1	88271319	1.000000	0.71417	0.943000	0.38184	0.022000	0.10575	9.518000	0.98022	2.656000	0.90262	0.655000	0.94253	GGA		0.458	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935	
KLHL8	57563	broad.mit.edu	37	4	88106626	88106626	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:88106626C>T	ENST00000273963.5	-	3	883	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	KLHL8_ENST00000498875.2_Missense_Mutation_p.R105Q|KLHL8_ENST00000512111.1_Missense_Mutation_p.R181Q|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000545252.1_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	181	BACK.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.R181Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TAAGTCTATTCGATTGTGACT	0.443																																					p.R181Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G542A	4						.						127.0	122.0	124.0					4																	88106626		2203	4300	6503	88325650	SO:0001583	missense	57563	exon3			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.542G>A	4.37:g.88106626C>T	ENSP00000273963:p.Arg181Gln		88325650	NM_020803	Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806530	0.90623	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000512111	T;T;T	0.68765	-0.35;-0.35;-0.35	5.67	5.67	0.87782	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.63283	0.74;0.913	T	0.80313	-0.1435	10	0.87932	D	0	.	19.7705	0.96361	0.0:1.0:0.0:0.0	.	105;181	Q6N018;Q9P2G9	.;KLHL8_HUMAN	Q	181;105;181	ENSP00000273963:R181Q;ENSP00000426451:R105Q;ENSP00000424131:R181Q	ENSP00000273963:R181Q	R	-	2	0	KLHL8	88325650	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	5.873000	0.69644	2.669000	0.90835	0.655000	0.94253	CGA		0.443	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1		
HSD17B13	345275	broad.mit.edu	37	4	88231412	88231412	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:88231412G>T	ENST00000328546.4	-	6	859	c.795C>A	c.(793-795)atC>atA	p.I265I	HSD17B13_ENST00000302219.6_Silent_p.I229I	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	265						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.I265I(1)		endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTCTCAGAAAGATATTGATAT	0.328																																					p.I229I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C687A	4						.						107.0	110.0	109.0					4																	88231412		2202	4300	6502	88450436	SO:0001819	synonymous_variant	345275	exon5				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.795C>A	4.37:g.88231412G>T			88450436	NM_001136230	A8K9R9|Q2M1L5|Q86W22|Q86W23	Silent	SNP	ENST00000328546.4	37	CCDS3618.1																																																																																				0.328	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1	NM_178135	
NUDT9	53343	broad.mit.edu	37	4	88378999	88378999	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:88378999G>A	ENST00000302174.4	+	8	1203	c.879G>A	c.(877-879)gaG>gaA	p.E293E	RP11-710E1.2_ENST00000609450.1_lincRNA|NUDT9_ENST00000473942.1_Silent_p.E243E	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	293	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.			E -> V (in Ref. 7; BAC11601). {ECO:0000305}.	ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E293E(1)		endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		AACCAGGTGAGATAATGGATA	0.343																																					p.E243E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G729A	4						.						95.0	95.0	95.0					4																	88378999		2203	4300	6503	88598023	SO:0001819	synonymous_variant	53343	exon8			AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.879G>A	4.37:g.88378999G>A			88598023	NM_198038	Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	CCDS3620.1																																																																																				0.343	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2		
IBSP	3381	broad.mit.edu	37	4	88732625	88732625	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:88732625G>A	ENST00000226284.5	+	7	584	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	173	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)		p.E173K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGATGAAAACGAACAAGGCAT	0.453																																					p.E173K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G517A	4						.						162.0	147.0	152.0					4																	88732625		2203	4300	6503	88951649	SO:0001583	missense	3381	exon7				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.517G>A	4.37:g.88732625G>A	ENSP00000226284:p.Glu173Lys		88951649	NM_004967		Missense_Mutation	SNP	ENST00000226284.5	37	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733543	0.48939	.	.	ENSG00000029559	ENST00000226284	T	0.15139	2.45	4.92	3.15	0.36227	.	0.800615	0.11482	N	0.559663	T	0.16385	0.0394	L	0.50333	1.59	0.09310	N	1	B	0.15930	0.015	B	0.15870	0.014	T	0.20874	-1.0262	10	0.24483	T	0.36	.	9.8905	0.41288	0.1722:0.0:0.8278:0.0	.	173	P21815	SIAL_HUMAN	K	173	ENSP00000226284:E173K	ENSP00000226284:E173K	E	+	1	0	IBSP	88951649	0.812000	0.29077	0.036000	0.18154	0.828000	0.46876	3.194000	0.51005	1.193000	0.43086	0.591000	0.81541	GAA		0.453	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2		
MEPE	56955	broad.mit.edu	37	4	88767365	88767365	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:88767365A>C	ENST00000424957.3	+	4	1418	c.1345A>C	c.(1345-1347)Aac>Cac	p.N449H	MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.N336H|MEPE_ENST00000361056.3_Missense_Mutation_p.N449H|MEPE_ENST00000395102.4_Missense_Mutation_p.N480H|MEPE_ENST00000497649.2_Missense_Mutation_p.N425H|MEPE_ENST00000540395.1_Missense_Mutation_p.N336H	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	449					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.N449H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGAAATCAAAAACGAAATGGA	0.383																																					p.N336H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1006C	4						.						65.0	62.0	63.0					4																	88767365		2203	4300	6503	88986389	SO:0001583	missense	56955	exon6			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1345A>C	4.37:g.88767365A>C	ENSP00000416984:p.Asn449His		88986389	NM_001184697	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	ENST00000424957.3	37	CCDS3625.1	.	.	.	.	.	.	.	.	.	.	A	8.824	0.938201	0.18206	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.49720	0.77;0.78;0.77;0.78;0.77	4.05	2.84	0.33178	.	0.919485	0.08923	N	0.874153	T	0.45013	0.1321	M	0.61703	1.905	0.09310	N	1	B	0.20261	0.043	B	0.19148	0.024	T	0.39683	-0.9602	10	0.49607	T	0.09	-5.0104	7.6	0.28071	0.7825:0.2175:0.0:0.0	.	449	Q9NQ76	MEPE_HUMAN	H	449;480;425;336;449	ENSP00000416984:N449H;ENSP00000378534:N480H;ENSP00000422747:N425H;ENSP00000443491:N336H;ENSP00000354341:N449H	ENSP00000354341:N449H	N	+	1	0	MEPE	88986389	0.992000	0.36948	0.005000	0.12908	0.002000	0.02628	1.630000	0.37081	0.699000	0.31761	0.460000	0.39030	AAC		0.383	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1		
PKD2	5311	broad.mit.edu	37	4	88967960	88967960	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:88967960C>T	ENST00000237596.2	+	6	1552	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		A -> V (in dbSNP:rs55716765). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R496C(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTGGAAATTCGCATTCACAA	0.368																																					p.R496C												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1486T	4						.						195.0	185.0	188.0					4																	88967960		2203	4300	6503	89186984	SO:0001583	missense	5311	exon6			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1486C>T	4.37:g.88967960C>T	ENSP00000237596:p.Arg496Cys		89186984	NM_000297	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278101	0.80692	.	.	ENSG00000118762	ENST00000237596	D	0.97772	-4.53	5.62	5.62	0.85841	Polycystin cation channel, PKD1/PKD2 (1);	0.142127	0.64402	D	0.000003	D	0.98172	0.9396	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	P	0.59595	0.86	D	0.98616	1.0665	10	0.56958	D	0.05	-10.7352	19.6506	0.95805	0.0:1.0:0.0:0.0	.	496	Q13563	PKD2_HUMAN	C	496	ENSP00000237596:R496C	ENSP00000237596:R496C	R	+	1	0	PKD2	89186984	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.039000	0.70972	2.640000	0.89533	0.591000	0.81541	CGC		0.368	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297	
HERC6	55008	broad.mit.edu	37	4	89317276	89317276	+	Missense_Mutation	SNP	C	C	T	rs369219414		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:89317276C>T	ENST00000264346.7	+	6	928	c.869C>T	c.(868-870)tCg>tTg	p.S290L	HERC6_ENST00000380265.5_Missense_Mutation_p.S290L|HERC6_ENST00000273960.3_Missense_Mutation_p.S290L	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	290					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S290L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGCCTAGTTTCGCAGATAGAT	0.403																																					p.R290C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C868T	4						.	C	LEU/SER,LEU/SER	0,3744		0,0,1872	87.0	87.0	87.0		869,869	4.6	1.0	4		87	1,8211		0,1,4105	no	missense,missense	HERC6	NM_001165136.1,NM_017912.3	145,145	0,1,5977	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging	290/987,290/1023	89317276	1,11955	1872	4106	5978	89536299	SO:0001583	missense	55008	exon6			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.869C>T	4.37:g.89317276C>T	ENSP00000264346:p.Ser290Leu		89536299	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003816	0.74932	0.0	1.22E-4	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;T;D	0.84730	-1.89;-1.32;-1.89	4.59	4.59	0.56863	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.56097	D	0.000039	D	0.86727	0.6002	N	0.20401	0.57	0.41676	D	0.989265	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88502	0.3083	10	0.54805	T	0.06	.	16.3143	0.82909	0.0:1.0:0.0:0.0	.	290;290	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	L	290	ENSP00000369617:S290L;ENSP00000273960:S290L;ENSP00000264346:S290L	ENSP00000264346:S290L	S	+	2	0	HERC6	89536299	1.000000	0.71417	0.966000	0.40874	0.483000	0.33249	7.058000	0.76676	2.385000	0.81259	0.491000	0.48974	TCG		0.403	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
HERC6	55008	broad.mit.edu	37	4	89361068	89361068	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:89361068C>T	ENST00000264346.7	+	21	2657	c.2598C>T	c.(2596-2598)gtC>gtT	p.V866V	HERC6_ENST00000380265.5_Silent_p.V830V	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	866	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V866V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTTCAACGTCTCTGTAAAAG	0.328																																					p.S866F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2597T	4						.						36.0	34.0	35.0					4																	89361068		1837	4121	5958	89580091	SO:0001819	synonymous_variant	55008	exon21			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2598C>T	4.37:g.89361068C>T			89580091	NM_017912	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	CCDS47098.1																																																																																				0.328	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
FAM13A	10144	broad.mit.edu	37	4	89859293	89859293	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:89859293A>G	ENST00000264344.5	-	5	912	c.705T>C	c.(703-705)taT>taC	p.Y235Y	FAM13A_ENST00000509094.1_Silent_p.Y235Y|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Silent_p.Y26Y	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	235					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Y235Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CATTTTCTGTATACTCTACTT	0.368																																					p.Y235Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T705C	4						.						111.0	109.0	109.0					4																	89859293		2203	4300	6503	90078316	SO:0001819	synonymous_variant	10144	exon5			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.705T>C	4.37:g.89859293A>G			90078316	NM_014883	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	ENST00000264344.5	37	CCDS34029.1																																																																																				0.368	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1		
TIGD2	166815	broad.mit.edu	37	4	90035302	90035302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:90035302G>T	ENST00000317005.2	+	1	1335	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	393						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E393*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CCCTGGCAATGAAGAGAATTC	0.368																																					p.E393X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1177T	4						.						91.0	92.0	92.0					4																	90035302		2203	4300	6503	90254325	SO:0001587	stop_gained	166815	exon1			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1177G>T	4.37:g.90035302G>T	ENSP00000317170:p.Glu393*		90254325	NM_145715		Nonsense_Mutation	SNP	ENST00000317005.2	37	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	G	35	5.578543	0.96565	.	.	ENSG00000180346	ENST00000317005	.	.	.	4.56	4.56	0.56223	.	0.000000	0.36628	N	0.002487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-3.2887	12.698	0.57016	0.0:0.0:1.0:0.0	.	.	.	.	X	393	.	ENSP00000317170:E393X	E	+	1	0	TIGD2	90254325	1.000000	0.71417	0.530000	0.27963	0.945000	0.59286	4.607000	0.61133	2.372000	0.80975	0.460000	0.39030	GAA		0.368	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715	
GPRIN3	285513	broad.mit.edu	37	4	90171147	90171147	+	Missense_Mutation	SNP	G	G	T	rs11734353	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:90171147G>T	ENST00000609438.1	-	2	633	c.115C>A	c.(115-117)Ctc>Atc	p.L39I	GPRIN3_ENST00000333209.4_Missense_Mutation_p.L39I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	39			L -> V (in dbSNP:rs11734353).					p.L39I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTACACAGGAGAGCTGGTCGA	0.557																																					p.L39I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C115A	4						.						64.0	66.0	65.0					4																	90171147		2203	4300	6503	90390170	SO:0001583	missense	285513	exon2			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.115C>A	4.37:g.90171147G>T	ENSP00000476603:p.Leu39Ile		90390170	NM_198281	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	8.595	0.885467	0.17540	.	.	ENSG00000185477	ENST00000333209	T	0.10192	2.9	5.35	-4.58	0.03410	.	1.795770	0.03817	N	0.266822	T	0.07098	0.0180	L	0.27053	0.805	0.09310	N	1	B	0.16802	0.019	B	0.14578	0.011	T	0.37820	-0.9689	10	0.17832	T	0.49	0.1072	7.2978	0.26403	0.0706:0.514:0.1541:0.2614	.	39	Q6ZVF9	GRIN3_HUMAN	I	39	ENSP00000328672:L39I	ENSP00000328672:L39I	L	-	1	0	GPRIN3	90390170	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.575000	0.23729	-0.735000	0.04837	-0.172000	0.13284	CTC		0.557	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281	
MMRN1	22915	broad.mit.edu	37	4	90856092	90856092	+	Missense_Mutation	SNP	G	G	A	rs534739687		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:90856092G>A	ENST00000394980.1	+	7	1580	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	MMRN1_ENST00000508372.1_Missense_Mutation_p.E163K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E421K|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	421					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.E421K(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGAGGACCTCGAAAGCACCAG	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15943	0.0		0.0	False		,,,				2504	0.0				p.E421K												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G1261A	4						.						122.0	132.0	129.0					4																	90856092		2203	4300	6503	91075115	SO:0001583	missense	22915	exon6			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1261G>A	4.37:g.90856092G>A	ENSP00000378431:p.Glu421Lys		91075115	NM_007351	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919170	0.73098	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.74002	-0.5;-0.5;-0.8	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	D	0.84822	0.5557	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80527	-0.1343	10	0.23891	T	0.37	.	19.6544	0.95831	0.0:0.0:1.0:0.0	.	421	Q13201	MMRN1_HUMAN	K	421;421;163	ENSP00000378431:E421K;ENSP00000264790:E421K;ENSP00000426461:E163K	ENSP00000264790:E421K	E	+	1	0	MMRN1	91075115	1.000000	0.71417	0.995000	0.50966	0.890000	0.51754	4.496000	0.60360	2.807000	0.96579	0.591000	0.81541	GAA		0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351	
GRID2	2895	broad.mit.edu	37	4	93225881	93225881	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:93225881C>T	ENST00000282020.4	+	1	332	c.74C>T	c.(73-75)tCg>tTg	p.S25L	GRID2_ENST00000510992.1_Missense_Mutation_p.S25L|RP11-9B6.1_ENST00000504213.1_5'Flank|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	25					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.S25L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AATGCGGATTCGATCATTCAC	0.507																																					p.S25L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C74T	4						.						173.0	158.0	163.0					4																	93225881		2203	4300	6503	93444904	SO:0001583	missense	2895	exon1			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.74C>T	4.37:g.93225881C>T	ENSP00000282020:p.Ser25Leu		93444904	NM_001510	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647335	0.47258	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.86297	-2.1;-2.1	4.56	3.71	0.42584	.	.	.	.	.	D	0.84977	0.5592	N	0.19112	0.55	0.24720	N	0.993152	P;P	0.44241	0.829;0.829	P;P	0.52672	0.706;0.706	T	0.76211	-0.3042	9	0.33141	T	0.24	.	13.9044	0.63826	0.1534:0.8466:0.0:0.0	.	25;25	E9PH24;O43424	.;GRID2_HUMAN	L	25	ENSP00000282020:S25L;ENSP00000421257:S25L	ENSP00000282020:S25L	S	+	2	0	GRID2	93444904	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.008000	0.63991	1.103000	0.41568	0.650000	0.86243	TCG		0.507	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
ATOH1	474	broad.mit.edu	37	4	94750551	94750551	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:94750551G>A	ENST00000306011.3	+	1	510	c.474G>A	c.(472-474)aaG>aaA	p.K158K		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	158					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K158K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGGTGCAGAAGCAGAGACGGC	0.627																																					p.K158K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G474A	4						.						40.0	43.0	42.0					4																	94750551		2203	4300	6503	94969574	SO:0001819	synonymous_variant	474	exon1			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.474G>A	4.37:g.94750551G>A			94969574	NM_005172	Q14CT9	Silent	SNP	ENST00000306011.3	37	CCDS3638.1																																																																																				0.627	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172	
SMARCAD1	56916	broad.mit.edu	37	4	95129573	95129573	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:95129573C>T	ENST00000354268.4	+	2	101	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	RP11-363G15.2_ENST00000501965.2_lincRNA|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R10C			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	10					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R10C(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GGACCGTTTTCGCTTTGAGAA	0.468																																					p.R10C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C28T	4						.						93.0	103.0	100.0					4																	95129573		2203	4300	6503	95348596	SO:0001583	missense	56916	exon2			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.28C>T	4.37:g.95129573C>T	ENSP00000346217:p.Arg10Cys		95348596	NM_001128429	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246223	0.80024	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.49720	0.77;0.77;0.77	5.36	5.36	0.76844	.	0.000000	0.33534	N	0.004815	T	0.57066	0.2028	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.973;0.988	T	0.60541	-0.7243	10	0.87932	D	0	-6.4673	14.583	0.68305	0.0:1.0:0.0:0.0	.	10;10	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	C	10	ENSP00000351947:R10C;ENSP00000415576:R10C;ENSP00000346217:R10C	ENSP00000346217:R10C	R	+	1	0	SMARCAD1	95348596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.890000	0.56220	2.491000	0.84063	0.561000	0.74099	CGC		0.468	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159	
PDLIM5	10611	broad.mit.edu	37	4	95508214	95508214	+	Intron	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:95508214G>A	ENST00000317968.4	+	7	1056				PDLIM5_ENST00000450793.1_Missense_Mutation_p.R229H|PDLIM5_ENST00000318007.5_Missense_Mutation_p.R209H|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000380176.3_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.R229H|PDLIM5_ENST00000538141.1_Missense_Mutation_p.R209H|PDLIM5_ENST00000380180.3_Missense_Mutation_p.R229H|PDLIM5_ENST00000514743.1_Intron|PDLIM5_ENST00000437932.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.R229H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GTTTCAGCACGTGCTCTTAAC	0.378																																					p.R229H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	4						.						60.0	58.0	59.0					4																	95508214		1878	4110	5988	95727237	SO:0001627	intron_variant	10611	exon9			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.920+619G>A	4.37:g.95508214G>A			95727237	NM_001011515	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.82|17.82	3.482999|3.482999	0.63962|0.63962	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000508216|ENST00000513341	T;T;T;T;T|.	0.37235|.	1.69;1.48;1.69;1.21;1.69|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|.	.|.	.|.	.|.	T|T	0.59059|0.59059	0.2166|0.2166	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;B|.	0.76494|.	0.999;0.045|.	D;B|.	0.78314|.	0.991;0.016|.	T|T	0.52555|0.52555	-0.8560|-0.8560	9|5	0.30854|.	T|.	0.27|.	.|.	19.4745|19.4745	0.94982|0.94982	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	229;209|.	Q96HC4-2;Q96HC4-3|.	.;.|.	H|M	229;209;229;209;229|191	ENSP00000369527:R229H;ENSP00000322021:R209H;ENSP00000401579:R229H;ENSP00000439795:R209H;ENSP00000426804:R229H|.	ENSP00000322021:R209H|.	R|V	+|+	2|1	0|0	PDLIM5|PDLIM5	95727237|95727237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.420000|9.420000	0.97426|0.97426	2.677000|2.677000	0.91161|0.91161	0.585000|0.585000	0.79938|0.79938	CGT|GTG		0.378	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1		
BMPR1B	658	broad.mit.edu	37	4	96036890	96036890	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:96036890G>A	ENST00000515059.1	+	6	584	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	BMPR1B_ENST00000394931.1_Missense_Mutation_p.E101K|BMPR1B_ENST00000440890.2_Missense_Mutation_p.E131K|BMPR1B_ENST00000264568.4_Missense_Mutation_p.E101K|BMPR1B_ENST00000502683.1_Silent_p.T102T	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	101					BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.E101K(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGAAAGGAACGAATGTAATAA	0.398																																					p.E101K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G301A	4						.						143.0	133.0	137.0					4																	96036890		2203	4300	6503	96255913	SO:0001583	missense	658	exon6			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.301G>A	4.37:g.96036890G>A	ENSP00000426617:p.Glu101Lys		96255913	NM_001203	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633590	0.47049	.	.	ENSG00000138696	ENST00000515059;ENST00000506363;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	6.17	5.32	0.75619	TGF-beta receptor/activin receptor, type I/II (1);	0.291117	0.37906	N	0.001899	D	0.92153	0.7512	N	0.14661	0.345	0.22835	N	0.998677	B	0.09022	0.002	B	0.01281	0.0	D	0.85416	0.1140	10	0.66056	D	0.02	.	10.1618	0.42855	0.0:0.1113:0.6322:0.2565	.	101	O00238	BMR1B_HUMAN	K	101;101;101;101;131;101;101	ENSP00000426617:E101K;ENSP00000421144:E101K;ENSP00000425444:E101K;ENSP00000421671:E101K;ENSP00000401907:E131K;ENSP00000264568:E101K;ENSP00000378389:E101K	ENSP00000264568:E101K	E	+	1	0	BMPR1B	96255913	0.993000	0.37304	0.229000	0.23960	0.585000	0.36419	5.256000	0.65468	1.578000	0.49821	0.655000	0.94253	GAA		0.398	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
BMPR1B	658	broad.mit.edu	37	4	96069909	96069909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:96069909G>T	ENST00000515059.1	+	11	1370	c.1087G>T	c.(1087-1089)Gaa>Taa	p.E363*	BMPR1B_ENST00000394931.1_Nonsense_Mutation_p.E363*|BMPR1B_ENST00000440890.2_Nonsense_Mutation_p.E393*|BMPR1B_ENST00000264568.4_Nonsense_Mutation_p.E363*	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.E363*(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGATACAAATGAAGTTGACAT	0.398																																					p.E363X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1087T	4						.						140.0	123.0	129.0					4																	96069909		2203	4300	6503	96288932	SO:0001587	stop_gained	658	exon11			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1087G>T	4.37:g.96069909G>T	ENSP00000426617:p.Glu363*		96288932	NM_001203	B2R953|B4DSV1|P78366	Nonsense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	37	6.368647	0.97511	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.4137	0.94687	0.0:0.0:1.0:0.0	.	.	.	.	X	363;363;363;393;363;363	.	ENSP00000264568:E363X	E	+	1	0	BMPR1B	96288932	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.263000	0.95617	2.826000	0.97356	0.563000	0.77884	GAA		0.398	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
BMPR1B	658	broad.mit.edu	37	4	96069988	96069988	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:96069988G>T	ENST00000515059.1	+	11	1449	c.1166G>T	c.(1165-1167)aGa>aTa	p.R389I	BMPR1B_ENST00000394931.1_Missense_Mutation_p.R389I|BMPR1B_ENST00000440890.2_Missense_Mutation_p.R419I|BMPR1B_ENST00000264568.4_Missense_Mutation_p.R389I	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	389	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.R389I(2)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGCTTGAACAGAAATCACTTC	0.438																																					p.R389I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1166T	4						.						193.0	169.0	177.0					4																	96069988		2203	4300	6503	96289011	SO:0001583	missense	658	exon11			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1166G>T	4.37:g.96069988G>T	ENSP00000426617:p.Arg389Ile		96289011	NM_001203	B2R953|B4DSV1|P78366	Missense_Mutation	SNP	ENST00000515059.1	37	CCDS3642.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135012	0.37728	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088541	0.64402	D	0.000001	D	0.91439	0.7298	L	0.35723	1.085	0.80722	D	1	P	0.39903	0.694	B	0.43478	0.421	D	0.88537	0.3107	10	0.20519	T	0.43	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	389	O00238	BMR1B_HUMAN	I	389;389;389;419;389;389	ENSP00000426617:R389I;ENSP00000425444:R389I;ENSP00000421671:R389I;ENSP00000401907:R419I;ENSP00000264568:R389I;ENSP00000378389:R389I	ENSP00000264568:R389I	R	+	2	0	BMPR1B	96289011	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	4.405000	0.59741	2.941000	0.99782	0.655000	0.94253	AGA		0.438	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
UNC5C	8633	broad.mit.edu	37	4	96123989	96123989	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:96123989C>A	ENST00000453304.1	-	12	2377	c.2029G>T	c.(2029-2031)Gcg>Tcg	p.A677S		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	677					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)	p.A677S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTCGCAGCCGCTTTGGTGGTG	0.597																																					p.A677S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2029T	4						.						122.0	117.0	118.0					4																	96123989		2203	4300	6503	96343012	SO:0001583	missense	8633	exon12			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2029G>T	4.37:g.96123989C>A	ENSP00000406022:p.Ala677Ser		96343012	NM_003728	Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	8.457	0.854471	0.17106	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.55413	0.8;0.52	5.47	4.63	0.57726	.	0.167687	0.52532	D	0.000073	T	0.27594	0.0678	N	0.05012	-0.13	0.80722	D	1	B;B	0.13145	0.001;0.007	B;B	0.12837	0.003;0.008	T	0.08806	-1.0704	10	0.14656	T	0.56	.	9.2597	0.37605	0.1446:0.7823:0.0:0.073	.	677;677	A8K385;O95185	.;UNC5C_HUMAN	S	677;636;696	ENSP00000406022:A677S;ENSP00000426924:A696S	ENSP00000328673:A636S	A	-	1	0	UNC5C	96343012	0.991000	0.36638	0.966000	0.40874	0.946000	0.59487	2.110000	0.41873	1.450000	0.47717	0.561000	0.74099	GCG		0.597	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728	
PDHA2	5161	broad.mit.edu	37	4	96762199	96762199	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:96762199C>T	ENST00000295266.4	+	1	961	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	300					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R300C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGTCAGTTATCGTACACGAGA	0.433																																					p.R300C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C898T	4						.						103.0	100.0	101.0					4																	96762199		2203	4300	6503	96981222	SO:0001583	missense	5161	exon1				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.898C>T	4.37:g.96762199C>T	ENSP00000295266:p.Arg300Cys		96981222	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874385	0.51695	.	.	ENSG00000163114	ENST00000295266	D	0.97924	-4.61	4.91	4.07	0.47477	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99272	0.9746	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98218	1.0476	10	0.87932	D	0	-10.2397	11.2932	0.49263	0.0:0.9113:0.0:0.0887	.	300	P29803	ODPAT_HUMAN	C	300	ENSP00000295266:R300C	ENSP00000295266:R300C	R	+	1	0	PDHA2	96981222	1.000000	0.71417	0.053000	0.19242	0.437000	0.31866	5.205000	0.65186	1.456000	0.47831	0.467000	0.42956	CGT		0.433	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
PDHA2	5161	broad.mit.edu	37	4	96762328	96762328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:96762328G>T	ENST00000295266.4	+	1	1090	c.1027G>T	c.(1027-1029)Gaa>Taa	p.E343*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	343					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.E343*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GGTGAGGAAAGAAATTGATGA	0.423																																					p.E343X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1027T	4						.						115.0	106.0	109.0					4																	96762328		2203	4300	6503	96981351	SO:0001587	stop_gained	5161	exon1				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1027G>T	4.37:g.96762328G>T	ENSP00000295266:p.Glu343*		96981351	NM_005390	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Nonsense_Mutation	SNP	ENST00000295266.4	37	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731073	0.48939	.	.	ENSG00000163114	ENST00000295266	.	.	.	5.08	2.38	0.29361	.	0.051763	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.4207	5.2701	0.15620	0.0802:0.1443:0.626:0.1495	.	.	.	.	X	343	.	ENSP00000295266:E343X	E	+	1	0	PDHA2	96981351	1.000000	0.71417	0.005000	0.12908	0.041000	0.13682	3.383000	0.52471	0.402000	0.25451	0.591000	0.81541	GAA		0.423	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
TRIML2	205860	broad.mit.edu	37	4	189012656	189012656	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr4:189012656G>A	ENST00000512729.1	-	7	1409	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	TRIML2_ENST00000326754.3_Silent_p.F370F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	345	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.F345F(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CGCAATGGGAGAAATTGTAAA	0.483																																					p.F345F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1035T	4						.						152.0	158.0	156.0					4																	189012656		2203	4300	6503	189249650	SO:0001819	synonymous_variant	205860	exon7			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1035C>T	4.37:g.189012656G>A			189249650	NM_173553	B7Z6J6	Silent	SNP	ENST00000512729.1	37	CCDS3850.1																																																																																				0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553	
ST8SIA4	7903	broad.mit.edu	37	5	100231433	100231433	+	Missense_Mutation	SNP	C	C	T	rs148751339		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:100231433C>T	ENST00000231461.5	-	2	480	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R57Q	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	57					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.R57Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GCCAGCCTTTCGAATGATTTT	0.373																																					p.R57Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G170A	5						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	114.0	111.0	112.0		170,170	6.0	1.0	5	dbSNP_134	112	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense	ST8SIA4	NM_005668.4,NM_175052.1	43,43	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	57/360,57/169	100231433	2,13002	2203	4299	6502	100259332	SO:0001583	missense	7903	exon2			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.170G>A	5.37:g.100231433C>T	ENSP00000231461:p.Arg57Gln		100259332	NM_175052	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671111	0.67814	0.0	2.33E-4	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.31247	2.26;1.5	5.96	5.96	0.96718	.	0.083749	0.50627	D	0.000120	T	0.39600	0.1084	L	0.27053	0.805	0.51767	D	0.999932	D	0.64830	0.994	P	0.61201	0.885	T	0.03335	-1.1047	10	0.13470	T	0.59	.	19.3963	0.94608	0.0:1.0:0.0:0.0	.	57	Q92187	SIA8D_HUMAN	Q	57	ENSP00000231461:R57Q;ENSP00000428914:R57Q	ENSP00000231461:R57Q	R	-	2	0	ST8SIA4	100259332	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.181000	0.32017	2.814000	0.96858	0.655000	0.94253	CGA		0.373	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668	
SLCO4C1	353189	broad.mit.edu	37	5	101585439	101585439	+	Missense_Mutation	SNP	G	G	A	rs529284686	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:101585439G>A	ENST00000310954.6	-	9	1809	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.S508L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATATGATCGCGAACAGTTACA	0.403													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18827	0.0		0.0	False		,,,				2504	0.0				p.S508L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1523T	5						.						104.0	102.0	103.0					5																	101585439		2203	4300	6503	101613338	SO:0001583	missense	353189	exon9			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1523C>T	5.37:g.101585439G>A	ENSP00000309741:p.Ser508Leu		101613338	NM_180991		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	2.412	-0.335181	0.05278	.	.	ENSG00000173930	ENST00000310954	T	0.04758	3.56	5.61	4.45	0.53987	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.728525	0.12260	N	0.484763	T	0.02649	0.0080	N	0.04203	-0.255	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.48031	-0.9070	10	0.22109	T	0.4	.	8.2835	0.31915	0.8434:0.0:0.1566:0.0	.	508	Q6ZQN7	SO4C1_HUMAN	L	508	ENSP00000309741:S508L	ENSP00000309741:S508L	S	-	2	0	SLCO4C1	101613338	0.000000	0.05858	0.420000	0.26596	0.561000	0.35649	1.193000	0.32162	0.952000	0.37798	-0.606000	0.04082	TCG		0.403	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
SLCO6A1	133482	broad.mit.edu	37	5	101735295	101735295	+	Missense_Mutation	SNP	C	C	A	rs200584654		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:101735295C>A	ENST00000506729.1	-	10	1949	c.1778G>T	c.(1777-1779)gGt>gTt	p.G593V	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G340V|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G593V|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G340V|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G531V			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	593						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G593V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACCAGAAAAACCAGAAAATAT	0.318													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14005	0.0		0.0	False		,,,				2504	0.0				p.G593V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1778T	5						.						91.0	88.0	89.0					5																	101735295		2203	4300	6503	101763194	SO:0001583	missense	133482	exon10			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1778G>T	5.37:g.101735295C>A	ENSP00000421339:p.Gly593Val		101763194	NM_173488	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	CCDS34206.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.557	0.287557	0.10513	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	D;D;D;T;T	0.83755	-1.76;-1.76;-1.76;-0.02;-0.02	5.42	-4.61	0.03380	Major facilitator superfamily domain, general substrate transporter (1);	2.059020	0.02213	N	0.063363	T	0.68577	0.3016	N	0.12182	0.205	0.09310	N	1	B;B;B	0.22983	0.053;0.078;0.03	B;B;B	0.34346	0.013;0.18;0.03	T	0.56565	-0.7958	10	0.35671	T	0.21	.	2.8271	0.05488	0.2356:0.2026:0.4145:0.1473	.	531;340;593	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	V	593;593;531;340;340	ENSP00000421339:G593V;ENSP00000369135:G593V;ENSP00000373671:G531V;ENSP00000421990:G340V;ENSP00000369138:G340V	ENSP00000369135:G593V	G	-	2	0	SLCO6A1	101763194	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.119000	0.03276	-0.695000	0.05105	-0.929000	0.02709	GGT		0.318	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
PAM	5066	broad.mit.edu	37	5	102295581	102295581	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:102295581G>A	ENST00000438793.3	+	12	1378	c.908G>A	c.(907-909)gGc>gAc	p.G303D	PAM_ENST00000346918.2_Missense_Mutation_p.G303D|PAM_ENST00000455264.2_Missense_Mutation_p.G303D|PAM_ENST00000348126.2_Missense_Mutation_p.G303D|PAM_ENST00000274392.9_Missense_Mutation_p.G206D|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000304400.7_Missense_Mutation_p.G303D	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	303	Peptidylglycine alpha-hydroxylating monooxygenase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.G303D(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCCTGCAGTGGCACGTCTAGT	0.378																																					p.G303D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G908A	5						.						103.0	92.0	95.0					5																	102295581		2203	4300	6503	102323480	SO:0001583	missense	5066	exon12			AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.908G>A	5.37:g.102295581G>A	ENSP00000396493:p.Gly303Asp		102323480	NM_138822	A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.364153|4.364153	0.82353|0.82353	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	T;T;T;T;T;T|.	0.75704|.	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96|.	5.43|5.43	5.43|5.43	0.79202|0.79202	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);|.	0.101878|.	0.64402|.	D|.	0.000004|.	T|.	0.74981|.	0.3788|.	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999;1.0;0.999|.	D;D;D;D;D;D|.	0.85130|.	0.994;0.997;0.995;0.992;0.995;0.979|.	T|.	0.73084|.	-0.4094|.	10|.	0.87932|.	D|.	0|.	.|.	19.2551|19.2551	0.93943|0.93943	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	206;303;303;303;303;303|.	F8WE90;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;AMD_HUMAN;.;.;.;.|.	D|X	303;303;303;303;206;303|75	ENSP00000396493:G303D;ENSP00000282992:G303D;ENSP00000314638:G303D;ENSP00000306100:G303D;ENSP00000274392:G206D;ENSP00000403461:G303D|.	ENSP00000274392:G206D|.	G|W	+|+	2|3	0|0	PAM|PAM	102323480|102323480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.526000|7.526000	0.81920|0.81920	2.566000|2.566000	0.86566|0.86566	0.460000|0.460000	0.39030|0.39030	GGC|TGG		0.378	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919	
PPIP5K2	23262	broad.mit.edu	37	5	102519013	102519013	+	Missense_Mutation	SNP	C	C	T	rs369404751		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:102519013C>T	ENST00000358359.3	+	25	3510	c.3001C>T	c.(3001-3003)Cgt>Tgt	p.R1001C	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R1001C|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.R1001C	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1001					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.R1001C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGGTACTGGGCGTCGAAGACG	0.522																																					p.R1001C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3001T	5						.	C	CYS/ARG	0,4406		0,0,2203	94.0	88.0	90.0		3001	4.9	1.0	5		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPIP5K2	NM_015216.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1001/1223	102519013	1,13005	2203	4300	6503	102546912	SO:0001583	missense	23262	exon24			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.3001C>T	5.37:g.102519013C>T	ENSP00000351126:p.Arg1001Cys		102546912	NM_015216	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37		.	.	.	.	.	.	.	.	.	.	C	16.98	3.271353	0.59649	0.0	1.16E-4	ENSG00000145725	ENST00000321521;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.15372	2.43;2.43;2.43	5.76	4.88	0.63580	.	0.000000	0.64402	D	0.000008	T	0.32164	0.0820	L	0.40543	1.245	0.58432	D	0.999997	D;D	0.89917	1.0;0.981	D;P	0.70016	0.967;0.676	T	0.01030	-1.1475	10	0.54805	T	0.06	-14.2372	15.188	0.73020	0.0:0.9313:0.0:0.0687	.	1001;1001	O43314-2;O43314	.;VIP2_HUMAN	C	1001;1001;1016;1001	ENSP00000313070:R1001C;ENSP00000351126:R1001C;ENSP00000416016:R1001C	ENSP00000313070:R1001C	R	+	1	0	PPIP5K2	102546912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.730000	0.62015	2.706000	0.92434	0.591000	0.81541	CGT		0.522	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	
C5orf30	90355	broad.mit.edu	37	5	102611630	102611630	+	Missense_Mutation	SNP	G	G	A	rs189792579		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:102611630G>A	ENST00000319933.2	+	3	318	c.10G>A	c.(10-12)Gat>Aat	p.D4N	C5orf30_ENST00000510890.1_Missense_Mutation_p.D4N|C5orf30_ENST00000515669.1_Missense_Mutation_p.D4N	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	4					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)		p.D4N(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		AATGGAAGTCGATATTAATGG	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20032	0.0		0.0	False		,,,				2504	0.0				p.D4N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10A	5						.	G	ASN/ASP	2,4394		0,2,2196	34.0	37.0	36.0		10	6.1	1.0	5		36	0,8584		0,0,4292	yes	missense	C5orf30	NM_033211.2	23	0,2,6488	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	4/207	102611630	2,12978	2198	4292	6490	102639529	SO:0001583	missense	90355	exon3				CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.10G>A	5.37:g.102611630G>A	ENSP00000326110:p.Asp4Asn		102639529	NM_033211		Missense_Mutation	SNP	ENST00000319933.2	37	CCDS4095.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.423303	0.96111	4.55E-4	0.0	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74368	-0.3688	9	0.87932	D	0	-26.684	20.6208	0.99490	0.0:0.0:1.0:0.0	.	4	Q96GV9	CE030_HUMAN	N	4	.	ENSP00000326110:D4N	D	+	1	0	C5orf30	102639529	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.115000	0.77110	2.882000	0.98803	0.655000	0.94253	GAT		0.507	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211	
FER	2241	broad.mit.edu	37	5	108203539	108203539	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:108203539T>C	ENST00000281092.4	+	6	937	c.553T>C	c.(553-555)Tat>Cat	p.Y185H	FER_ENST00000438717.2_Missense_Mutation_p.Y10H|FER_ENST00000536402.1_Missense_Mutation_p.Y185H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	185	Important for interaction with membranes containing phosphoinositides.				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)		GCACAATCAGTATGTATTGGC	0.388																																					p.Y185H	Colon(146;1051 1799 9836 27344 47401)											.	.	0			c.T553C	5						.						160.0	127.0	138.0					5																	108203539		2202	4300	6502	108231438	SO:0001583	missense	2241	exon6			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.553T>C	5.37:g.108203539T>C	ENSP00000281092:p.Tyr185His		108231438	NM_005246	B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391044	0.82902	.	.	ENSG00000151422	ENST00000281092;ENST00000536402;ENST00000438717	T;T;T	0.78364	-1.17;-1.17;0.31	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.88020	0.6325	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.89536	0.3789	10	0.87932	D	0	-14.3106	15.9582	0.79902	0.0:0.0:0.0:1.0	.	185	P16591	FER_HUMAN	H	185;185;10	ENSP00000281092:Y185H;ENSP00000442627:Y185H;ENSP00000394297:Y10H	ENSP00000281092:Y185H	Y	+	1	0	FER	108231438	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.525000	0.81892	2.219000	0.72066	0.533000	0.62120	TAT		0.388	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246	
STARD4	134429	broad.mit.edu	37	5	110835763	110835763	+	Nonsense_Mutation	SNP	G	G	A	rs369883048		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:110835763G>A	ENST00000296632.3	-	6	573	c.439C>T	c.(439-441)Cga>Tga	p.R147*	STARD4_ENST00000512160.1_3'UTR|STARD4_ENST00000511569.1_5'Flank	NM_139164.1	NP_631903.1	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain containing 4	147	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)	p.R147*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TTATATCCTCGAACAAATTCT	0.368																																					p.R147X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C439T	5						.	G	stop/ARG	1,4403	2.1+/-5.4	0,1,2201	74.0	72.0	72.0		439	4.8	1.0	5		72	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	STARD4	NM_139164.1		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		147/206	110835763	2,13002	2202	4300	6502	110863662	SO:0001587	stop_gained	134429	exon6			AF480299	CCDS4104.1	5q22	2011-09-12	2007-08-16		ENSG00000164211	ENSG00000164211		"""StAR-related lipid transfer (START) domain containing"""	18058	protein-coding gene	gene with protein product		607049	"""START domain containing 4, sterol regulated"""			12011452	Standard	NM_139164		Approved		uc003kph.1	Q96DR4	OTTHUMG00000128793	ENST00000296632.3:c.439C>T	5.37:g.110835763G>A	ENSP00000296632:p.Arg147*		110863662	NM_139164	Q86TN9	Nonsense_Mutation	SNP	ENST00000296632.3	37	CCDS4104.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443673	0.96187	2.27E-4	1.16E-4	ENSG00000164211	ENST00000296632;ENST00000505803	.	.	.	5.69	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1385	14.4351	0.67274	0.0:0.0:0.7318:0.2682	.	.	.	.	X	147	.	ENSP00000296632:R147X	R	-	1	2	STARD4	110863662	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.726000	0.61986	1.395000	0.46643	-0.182000	0.12963	CGA		0.368	STARD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250720.1	NM_139164	
CTNND2	1501	broad.mit.edu	37	5	11117571	11117571	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:11117571G>A	ENST00000304623.8	-	13	2457	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	CTNND2_ENST00000359640.2_Silent_p.I756I|CTNND2_ENST00000511377.1_Silent_p.I665I|CTNND2_ENST00000503622.1_Silent_p.I419I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.I323I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	756					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I756I(4)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTTGCTATCGATCTCACTGC	0.527																																					p.I756I												.	.	4	Substitution - coding silent(4)	large_intestine(3)|lung(1)	c.C2268T	5						.						190.0	168.0	176.0					5																	11117571		2203	4300	6503	11170571	SO:0001819	synonymous_variant	1501	exon13			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2268C>T	5.37:g.11117571G>A			11170571	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	CCDS3881.1																																																																																				0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
EPB41L4A	64097	broad.mit.edu	37	5	111600648	111600648	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:111600648G>A	ENST00000261486.5	-	6	775	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	167	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)		p.P167S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTCTGATCAGGAACAAACCGG	0.348																																					p.P167S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C499T	5						.						175.0	162.0	166.0					5																	111600648		1828	4098	5926	111628547	SO:0001583	missense	64097	exon6			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.499C>T	5.37:g.111600648G>A	ENSP00000261486:p.Pro167Ser		111628547	NM_022140	A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397167	0.83120	.	.	ENSG00000129595	ENST00000261486	D	0.89343	-2.5	5.46	5.46	0.80206	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.95027	0.8390	M	0.84773	2.715	0.44227	D	0.997061	D	0.89917	1.0	D	0.91635	0.999	D	0.94889	0.8046	10	0.51188	T	0.08	.	18.0769	0.89430	0.0:0.0:1.0:0.0	.	167	Q9HCS5	E41LA_HUMAN	S	167	ENSP00000261486:P167S	ENSP00000261486:P167S	P	-	1	0	EPB41L4A	111628547	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.615000	0.83006	2.568000	0.86640	0.650000	0.86243	CCT		0.348	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1		
APC	324	broad.mit.edu	37	5	112175133	112175133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:112175133C>A	ENST00000457016.1	+	16	4222	c.3842C>A	c.(3841-3843)tCa>tAa	p.S1281*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.S1281*|APC_ENST00000257430.4_Nonsense_Mutation_p.S1281*			P25054	APC_HUMAN	adenomatous polyposis coli	1281	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1281*(4)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCATCTTTGTCATCAGCTGAA	0.338		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.S1263X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,0 	.	6	Substitution - Nonsense(4)|Unknown(1)|Deletion - Frameshift(1)	large_intestine(4)|soft_tissue(1)|skin(1)	c.C3788A	5						.						53.0	56.0	55.0					5																	112175133		2202	4300	6502	112203032	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3842C>A	5.37:g.112175133C>A	ENSP00000413133:p.Ser1281*		112203032	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.063865	0.98635	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	6.03	6.03	0.97812	.	0.122148	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.5312	20.1672	0.98154	0.0:1.0:0.0:0.0	.	.	.	.	X	1281	.	.	S	+	2	0	APC	112203032	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	TCA		0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175513	112175513	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:112175513G>T	ENST00000457016.1	+	16	4602	c.4222G>T	c.(4222-4224)Gaa>Taa	p.E1408*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.E1408*|APC_ENST00000257430.4_Nonsense_Mutation_p.E1408*			P25054	APC_HUMAN	adenomatous polyposis coli	1408	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1408*(12)|p.Y1376fs*41(1)|p.?(1)|p.K1192fs*3(1)|p.E1408fs*8(1)|p.S1407fs*15(1)|p.E1408fs*7(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGTTCAGAGTGAACCATGCAG	0.473		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.E1390X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,colon,Substitution - Nonsense,0 	.	18	Substitution - Nonsense(12)|Deletion - Frameshift(4)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(15)|soft_tissue(1)|breast(1)|skin(1)	c.G4168T	5						.						116.0	107.0	110.0					5																	112175513		2202	4300	6502	112203412	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4222G>T	5.37:g.112175513G>T	ENSP00000413133:p.Glu1408*		112203412	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	41	8.766917	0.98945	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.07	6.07	0.98685	.	0.101580	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.1639	15.3709	0.74564	0.0:0.0:0.8606:0.1393	.	.	.	.	X	1408	.	.	E	+	1	0	APC	112203412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.500000	0.81588	2.884000	0.98904	0.655000	0.94253	GAA		0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112177866	112177866	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:112177866A>C	ENST00000457016.1	+	16	6955	c.6575A>C	c.(6574-6576)aAa>aCa	p.K2192T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.K2192T|APC_ENST00000257430.4_Missense_Mutation_p.K2192T			P25054	APC_HUMAN	adenomatous polyposis coli	2192	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K2192T(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGGAGGAAAAAAAGTTTAT	0.338		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.K2174T	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.A6521C	5						.						47.0	53.0	51.0					5																	112177866		2177	4295	6472	112205765	SO:0001583	missense	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6575A>C	5.37:g.112177866A>C	ENSP00000413133:p.Lys2192Thr		112205765	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234820	0.58886	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91180	-2.8;-2.8;-2.8	6.02	6.02	0.97574	.	0.039884	0.85682	D	0.000000	D	0.93138	0.7815	L	0.43152	1.355	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.92419	0.5944	9	.	.	.	-27.1157	16.542	0.84395	1.0:0.0:0.0:0.0	.	2194;2192	Q4LE70;P25054	.;APC_HUMAN	T	2192	ENSP00000413133:K2192T;ENSP00000257430:K2192T;ENSP00000427089:K2192T	.	K	+	2	0	APC	112205765	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.927000	0.92846	2.304000	0.77564	0.528000	0.53228	AAA		0.338	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
MCC	4163	broad.mit.edu	37	5	112437618	112437618	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:112437618G>A	ENST00000302475.4	-	6	1209	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	MCC_ENST00000408903.3_Missense_Mutation_p.L406F|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.L153F	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	216					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.L406F(1)|p.L216F(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCCGGCCAAGCACCCCCTCA	0.527																																					p.L406F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1216T	5						.						73.0	77.0	76.0					5																	112437618		2202	4300	6502	112465517	SO:0001583	missense	4163	exon8				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.646C>T	5.37:g.112437618G>A	ENSP00000305617:p.Leu216Phe		112465517	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269019	0.80469	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.79653	-1.29;2.09;0.93	5.43	4.54	0.55810	.	0.077153	0.50627	D	0.000111	T	0.73345	0.3575	N	0.08118	0	0.39631	D	0.970175	D;D;D;D	0.58620	0.971;0.971;0.983;0.971	B;B;P;B	0.53649	0.441;0.441;0.731;0.441	T	0.78991	-0.1985	10	0.62326	D	0.03	-7.8855	13.6255	0.62161	0.1265:0.0:0.8735:0.0	.	216;178;406;216	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	F	216;153;406	ENSP00000305617:L216F;ENSP00000421615:L153F;ENSP00000386227:L406F	ENSP00000305617:L216F	L	-	1	0	MCC	112465517	1.000000	0.71417	0.571000	0.28486	0.982000	0.71751	4.741000	0.62095	2.711000	0.92665	0.655000	0.94253	CTT		0.527	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
MCC	4163	broad.mit.edu	37	5	112676388	112676388	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:112676388G>T	ENST00000408903.3	-	3	870	c.455C>A	c.(454-456)tCt>tAt	p.S152Y	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S152Y(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTGGCACCAGAGTCGTATTC	0.562																																					p.S152Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C455A	5						.						41.0	43.0	42.0					5																	112676388		1966	4160	6126	112704287	SO:0001583	missense	4163	exon3				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.455C>A	5.37:g.112676388G>T	ENSP00000386227:p.Ser152Tyr		112704287	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907228	0.52333	.	.	ENSG00000171444	ENST00000408903	T	0.50813	0.73	4.55	3.67	0.42095	.	0.267871	0.25408	N	0.030893	T	0.50582	0.1624	.	.	.	0.36156	D	0.847793	P	0.41848	0.763	P	0.47528	0.549	T	0.57985	-0.7716	9	0.29301	T	0.29	-5.9434	15.435	0.75140	0.0:0.1396:0.8604:0.0	.	152	P23508-2	.	Y	152	ENSP00000386227:S152Y	ENSP00000386227:S152Y	S	-	2	0	MCC	112704287	1.000000	0.71417	0.290000	0.24890	0.975000	0.68041	4.053000	0.57427	1.194000	0.43101	0.561000	0.74099	TCT		0.562	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377	
MCC	4163	broad.mit.edu	37	5	112720717	112720717	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:112720717C>A	ENST00000408903.3	-	2	778	c.363G>T	c.(361-363)aaG>aaT	p.K121N	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K121N(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCCTCAGCTTCTTTGTACAGG	0.473																																					p.K121N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G363T	5						.						154.0	147.0	149.0					5																	112720717		1910	4132	6042	112748616	SO:0001583	missense	4163	exon2				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.363G>T	5.37:g.112720717C>A	ENSP00000386227:p.Lys121Asn		112748616	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000408903.3	37	CCDS43351.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285002	0.59867	.	.	ENSG00000171444	ENST00000408903	T	0.35605	1.3	4.49	4.49	0.54785	.	0.321797	0.24698	N	0.036326	T	0.28764	0.0713	.	.	.	0.35196	D	0.773846	B	0.06786	0.001	B	0.08055	0.003	T	0.29458	-1.0011	9	0.44086	T	0.13	-19.7028	11.8612	0.52467	0.1751:0.8249:0.0:0.0	.	121	P23508-2	.	N	121	ENSP00000386227:K121N	ENSP00000386227:K121N	K	-	3	2	MCC	112748616	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	3.687000	0.54692	2.431000	0.82371	0.650000	0.86243	AAG		0.473	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377	
YTHDC2	64848	broad.mit.edu	37	5	112901606	112901606	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:112901606G>A	ENST00000161863.4	+	21	2945	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	911					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.R911Q(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CAAAAAGCACGAAGTGATGGG	0.388																																					p.R911Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2732A	5						.						88.0	91.0	90.0					5																	112901606		2202	4300	6502	112929505	SO:0001583	missense	64848	exon21			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.2732G>A	5.37:g.112901606G>A	ENSP00000161863:p.Arg911Gln		112929505	NM_022828	B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820848	0.71028	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	T	0.02837	4.14	5.23	5.23	0.72850	.	0.072441	0.56097	D	0.000031	T	0.06142	0.0159	M	0.81112	2.525	0.80722	D	1	B	0.26041	0.14	B	0.17433	0.018	T	0.03493	-1.1031	10	0.59425	D	0.04	.	12.1773	0.54192	0.0786:0.0:0.9214:0.0	.	911	Q9H6S0	YTDC2_HUMAN	Q	911;821	ENSP00000161863:R911Q	ENSP00000161863:R911Q	R	+	2	0	YTHDC2	112929505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.792000	0.85828	2.432000	0.82394	0.563000	0.77884	CGA		0.388	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828	
CCDC112	153733	broad.mit.edu	37	5	114606915	114606915	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:114606915C>T	ENST00000512261.1	-	8	1494	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	CCDC112_ENST00000379611.5_Missense_Mutation_p.E443K|CCDC112_ENST00000506442.1_Missense_Mutation_p.E360K|CCDC112_ENST00000395557.4_Missense_Mutation_p.E360K			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	360								p.E443K(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTCACTCTTTCTTGAAATCTG	0.313																																					p.E443K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1327A	5						.						64.0	69.0	67.0					5																	114606915		2201	4297	6498	114634814	SO:0001583	missense	153733	exon7			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1078G>A	5.37:g.114606915C>T	ENSP00000423712:p.Glu360Lys		114634814	NM_001040440	Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533577	0.85812	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.21932	2.04;2.04;1.98;2.04	6.17	5.31	0.75309	.	0.243252	0.42172	D	0.000759	T	0.38506	0.1043	L	0.59436	1.845	0.33033	D	0.530432	B;D;D	0.63880	0.117;0.993;0.972	B;P;P	0.58520	0.043;0.84;0.737	T	0.55483	-0.8134	10	0.66056	D	0.02	-25.3998	14.7193	0.69294	0.0:0.9298:0.0:0.0702	.	360;443;360	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	K	443;360;360;360	ENSP00000368931:E443K;ENSP00000423712:E360K;ENSP00000424876:E360K;ENSP00000378925:E360K	ENSP00000368931:E443K	E	-	1	0	CCDC112	114634814	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.457000	0.66672	1.626000	0.50381	0.655000	0.94253	GAA		0.313	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549	
LVRN	206338	broad.mit.edu	37	5	115346501	115346501	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:115346501A>C	ENST00000357872.4	+	14	2281	c.2157A>C	c.(2155-2157)gaA>gaC	p.E719D		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		719						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E719D(1)									AAGAAGATGAAATTATAGTAT	0.318																																					p.E719D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2157C	5						.						134.0	138.0	137.0					5																	115346501		2201	4300	6501	115374400	SO:0001583	missense	206338	exon14																														ENST00000357872.4:c.2157A>C	5.37:g.115346501A>C	ENSP00000350541:p.Glu719Asp		115374400	NM_173800	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514760	0.44763	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05382	3.45	6.03	0.251	0.15540	.	0.251543	0.33496	N	0.004851	T	0.04227	0.0117	L	0.28458	0.855	0.80722	D	1	B	0.24483	0.104	B	0.30855	0.121	T	0.43782	-0.9370	10	0.27082	T	0.32	.	3.2921	0.06953	0.6492:0.1186:0.1174:0.1148	.	719	Q6Q4G3	AMPQ_HUMAN	D	719;708	ENSP00000350541:E719D	ENSP00000350541:E719D	E	+	3	2	AC010282.1	115374400	0.995000	0.38212	1.000000	0.80357	0.597000	0.36814	0.269000	0.18589	0.497000	0.27926	0.533000	0.62120	GAA		0.318	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1		
FAM170A	340069	broad.mit.edu	37	5	118968538	118968538	+	Missense_Mutation	SNP	G	G	A	rs372002549		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:118968538G>A	ENST00000515256.1	+	2	338	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	56					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E56K(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TTCTACCTCCGAATACTGCTC	0.562																																					p.E56K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G166A	5						.	G	,LYS/GLU	0,3978		0,0,1989	115.0	117.0	116.0		,166	3.4	0.8	5		116	1,8329		0,1,4164	no	intron,missense	FAM170A	NM_001163991.1,NM_182761.3	,56	0,1,6153	AA,AG,GG		0.012,0.0,0.0081	,possibly-damaging	,56/330	118968538	1,12307	1989	4165	6154	118996437	SO:0001583	missense	340069	exon2			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.166G>A	5.37:g.118968538G>A	ENSP00000422684:p.Glu56Lys		118996437	NM_182761	Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		.	.	.	.	.	.	.	.	.	.	G	14.44	2.536217	0.45176	0.0	1.2E-4	ENSG00000164334	ENST00000515256;ENST00000509264	T	0.60672	0.17	4.28	3.39	0.38822	.	0.125962	0.35772	N	0.003000	T	0.54175	0.1842	L	0.60455	1.87	0.24839	N	0.992473	D;D	0.60160	0.974;0.987	P;P	0.48304	0.477;0.573	T	0.50524	-0.8818	9	.	.	.	-14.4496	5.9825	0.19415	0.1012:0.1952:0.7035:0.0	.	56;56	A1A519;A2VCN0	F170A_HUMAN;.	K	56	ENSP00000422684:E56K	.	E	+	1	0	FAM170A	118996437	0.954000	0.32549	0.810000	0.32431	0.060000	0.15804	1.985000	0.40668	1.377000	0.46286	0.655000	0.94253	GAA		0.562	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761	
PRR16	51334	broad.mit.edu	37	5	120021768	120021768	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:120021768G>A	ENST00000407149.2	+	2	488	c.279G>A	c.(277-279)gaG>gaA	p.E93E	PRR16_ENST00000446965.1_Silent_p.E23E|PRR16_ENST00000379551.2_Silent_p.E70E|PRR16_ENST00000505123.1_Silent_p.E23E			Q569H4	LARGN_HUMAN	proline rich 16	93					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.E70E(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCAGCCTAGAGAAGATCAAAG	0.542																																					p.E70E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G210A	5						.						123.0	112.0	116.0					5																	120021768		2203	4300	6503	120049667	SO:0001819	synonymous_variant	51334	exon3			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.279G>A	5.37:g.120021768G>A			120049667	NM_016644	D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	ENST00000407149.2	37																																																																																					0.542	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644	
CEP120	153241	broad.mit.edu	37	5	122682231	122682231	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:122682231T>G	ENST00000306467.5	-	20	3247	c.2943A>C	c.(2941-2943)aaA>aaC	p.K981N	CEP120_ENST00000306481.6_Missense_Mutation_p.K955N|CEP120_ENST00000328236.5_Missense_Mutation_p.K981N			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	981					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K981N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TGGCATTGCTTTTTGCCAAAA	0.338																																					p.K955N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2865C	5						.						108.0	107.0	108.0					5																	122682231		2203	4300	6503	122710130	SO:0001583	missense	153241	exon20			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2943A>C	5.37:g.122682231T>G	ENSP00000303058:p.Lys981Asn		122710130	NM_001166226	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	T	15.09	2.729866	0.48833	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481	T;T;T	0.19806	2.12;2.12;2.12	5.24	2.86	0.33363	.	0.161457	0.40302	U	0.001135	T	0.18383	0.0441	L	0.47716	1.5	0.80722	D	1	B	0.27380	0.177	B	0.25759	0.063	T	0.03795	-1.1003	10	0.72032	D	0.01	-7.6638	9.319	0.37952	0.0:0.146:0.0:0.854	.	981	Q8N960	CE120_HUMAN	N	981;981;955	ENSP00000303058:K981N;ENSP00000327504:K981N;ENSP00000307419:K955N	ENSP00000303058:K981N	K	-	3	2	CEP120	122710130	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	2.891000	0.48617	0.338000	0.23692	0.533000	0.62120	AAA		0.338	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223	
PHAX	51808	broad.mit.edu	37	5	125960353	125960353	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:125960353G>T	ENST00000297540.4	+	5	1697	c.1002G>T	c.(1000-1002)atG>atT	p.M334I		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	334					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)	p.M334I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GGAAAAAGATGAAACAAGCTA	0.353																																					p.M334I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1002T	5						.						91.0	90.0	90.0					5																	125960353		2203	4300	6503	125988252	SO:0001583	missense	51808	exon5			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.1002G>T	5.37:g.125960353G>T	ENSP00000297540:p.Met334Ile		125988252	NM_032177	Q9H8W1	Missense_Mutation	SNP	ENST00000297540.4	37	CCDS4138.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368434|3.368434	0.61513|0.61513	.|.	.|.	ENSG00000164902|ENSG00000164902	ENST00000297540|ENST00000456348	T|.	0.46451|.	0.87|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59932|.	0.2230|.	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.10450|.	0.005|.	T|.	0.54118|.	-0.8341|.	10|.	0.44086|.	T|.	0.13|.	-12.0395|-12.0395	19.227|19.227	0.93821|0.93821	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	334|.	Q9H814|.	PHAX_HUMAN|.	I|L	334|249	ENSP00000297540:M334I|.	ENSP00000297540:M334I|.	M|X	+|+	3|2	0|2	PHAX|PHAX	125988252|125988252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.796000|8.796000	0.91877|0.91877	2.550000|2.550000	0.86006|0.86006	0.563000|0.563000	0.77884|0.77884	ATG|TGA		0.353	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177	
SLC12A2	6558	broad.mit.edu	37	5	127520166	127520166	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:127520166T>C	ENST00000262461.2	+	25	3597	c.3408T>C	c.(3406-3408)gaT>gaC	p.D1136D	SLC12A2_ENST00000343225.4_Silent_p.D1120D|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1136					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.D1136D(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GAATAACAGATAATGAGCTTG	0.308																																					p.D1136D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3408C	5						.						96.0	93.0	94.0					5																	127520166		2203	4299	6502	127548065	SO:0001819	synonymous_variant	6558	exon25				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3408T>C	5.37:g.127520166T>C			127548065	NM_001046	Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	CCDS4144.1																																																																																				0.308	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046	
FBN2	2201	broad.mit.edu	37	5	127704974	127704974	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:127704974G>A	ENST00000508053.1	-	22	3123	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000508989.1_Missense_Mutation_p.R684C|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.R717C			P35556	FBN2_HUMAN	fibrillin 2	717	TB 3.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R717C(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGAAAGGACGCACACACACT	0.483																																					p.R717C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2149T	5						.						181.0	141.0	154.0					5																	127704974		2203	4300	6503	127732873	SO:0001583	missense	2201	exon16			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2149C>T	5.37:g.127704974G>A	ENSP00000424571:p.Arg717Cys		127732873	NM_001999	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684778	0.47991	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92965	-3.14;-3.14;-3.14	4.35	4.35	0.52113	Matrix fibril-associated (3);TGF-beta binding (1);	0.083491	0.48767	D	0.000169	D	0.95912	0.8669	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.947	D	0.95079	0.8211	10	0.40728	T	0.16	.	18.1761	0.89761	0.0:0.0:1.0:0.0	.	684;717	D6RJI3;P35556	.;FBN2_HUMAN	C	717;717;684	ENSP00000262464:R717C;ENSP00000424571:R717C;ENSP00000425596:R684C	ENSP00000262464:R717C	R	-	1	0	FBN2	127732873	0.795000	0.28851	1.000000	0.80357	0.093000	0.18481	2.477000	0.45180	2.707000	0.92482	0.655000	0.94253	CGT		0.483	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
ADAMTS19	171019	broad.mit.edu	37	5	128932344	128932344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:128932344G>T	ENST00000274487.4	+	8	1592	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	483	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E483*(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AATTGCTCATGAAATGGGTCA	0.308																																					p.E483X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1447T	5						.						151.0	156.0	154.0					5																	128932344		2203	4300	6503	128960243	SO:0001587	stop_gained	171019	exon8			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1447G>T	5.37:g.128932344G>T	ENSP00000274487:p.Glu483*		128960243	NM_133638		Nonsense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	39	7.507112	0.98325	.	.	ENSG00000145808	ENST00000274487	.	.	.	3.92	3.92	0.45320	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2537	0.87049	0.0:0.0:1.0:0.0	.	.	.	.	X	483	.	.	E	+	1	0	ADAMTS19	128960243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.267000	0.89874	2.506000	0.84524	0.557000	0.71058	GAA		0.308	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
ADAMTS19	171019	broad.mit.edu	37	5	129072824	129072824	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:129072824G>T	ENST00000274487.4	+	23	3682	c.3537G>T	c.(3535-3537)aaG>aaT	p.K1179N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1179	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K1179N(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TACGTGAAAAGAACCTATGTC	0.502																																					p.K1179N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3537T	5						.						136.0	121.0	126.0					5																	129072824		2203	4300	6503	129100723	SO:0001583	missense	171019	exon23			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3537G>T	5.37:g.129072824G>T	ENSP00000274487:p.Lys1179Asn		129100723	NM_133638		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985357	0.35036	.	.	ENSG00000145808	ENST00000274487	T	0.38887	1.11	4.12	3.25	0.37280	PLAC (2);	0.079843	0.48767	D	0.000169	T	0.43322	0.1242	N	0.19112	0.55	0.40138	D	0.976808	D	0.76494	0.999	D	0.74674	0.984	T	0.28490	-1.0042	9	.	.	.	.	9.2263	0.37410	0.1686:0.0:0.8314:0.0	.	1179	Q8TE59	ATS19_HUMAN	N	1179	ENSP00000274487:K1179N	.	K	+	3	2	ADAMTS19	129100723	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	3.704000	0.54815	1.343000	0.45638	0.650000	0.86243	AAG		0.502	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
SLC22A4	6583	broad.mit.edu	37	5	131657893	131657893	+	Silent	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:131657893C>G	ENST00000200652.3	+	4	843	c.669C>G	c.(667-669)ggC>ggG	p.G223G	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	223					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.G223G(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AAATTCTTGGCAAGTCAGTTC	0.368																																					p.G223G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C669G	5						.						168.0	158.0	161.0					5																	131657893		2203	4300	6503	131685792	SO:0001819	synonymous_variant	6583	exon4			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.669C>G	5.37:g.131657893C>G			131685792	NM_003059	O14546	Silent	SNP	ENST00000200652.3	37	CCDS4153.1																																																																																				0.368	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059	
RAD50	10111	broad.mit.edu	37	5	131924481	131924481	+	Missense_Mutation	SNP	G	G	A	rs150030986		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:131924481G>A	ENST00000265335.6	+	8	1541	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H	RAD50_ENST00000378823.3_Missense_Mutation_p.R246H|RAD50_ENST00000487596.1_3'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	385					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)	p.R385H(1)|p.R246H(1)		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)			GGCTTTGAGCGTGGACCATTC	0.423								Homologous recombination																													p.R385H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1154A	5						.	G	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	97.0	95.0	95.0		1154	2.3	1.0	5	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RAD50	NM_005732.3	29	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	possibly-damaging	385/1313	131924481	6,13000	2203	4300	6503	131952380	SO:0001583	missense	10111	exon8			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.1154G>A	5.37:g.131924481G>A	ENSP00000265335:p.Arg385His		131952380	NM_005732	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743881	0.49151	0.001135	1.16E-4	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.09350	3.53;2.99;2.99	5.97	2.26	0.28386	.	0.170266	0.53938	N	0.000043	T	0.09992	0.0245	M	0.62723	1.935	0.50171	D	0.999851	B	0.21821	0.061	B	0.14578	0.011	T	0.17715	-1.0360	10	0.23302	T	0.38	-0.3078	5.6078	0.17389	0.2885:0.0:0.5829:0.1286	.	385	Q92878	RAD50_HUMAN	H	246;385;385	ENSP00000368100:R246H;ENSP00000265335:R385H;ENSP00000400049:R385H	ENSP00000265335:R385H	R	+	2	0	RAD50	131952380	0.177000	0.23109	0.997000	0.53966	0.990000	0.78478	0.911000	0.28584	0.139000	0.18822	-0.136000	0.14681	CGT		0.423	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732	
KIF3A	11127	broad.mit.edu	37	5	132046670	132046670	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:132046670C>A	ENST00000378746.4	-	9	1427	c.1209G>T	c.(1207-1209)gaG>gaT	p.E403D	KIF3A_ENST00000403231.1_Missense_Mutation_p.E403D|KIF3A_ENST00000378735.1_Missense_Mutation_p.E403D|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	403					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.E403D(2)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTTCCTTTTCTCTCCATCTT	0.388																																					p.E403D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1209T	5						.						155.0	163.0	160.0					5																	132046670		2203	4300	6503	132074569	SO:0001583	missense	11127	exon9			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1209G>T	5.37:g.132046670C>A	ENSP00000368020:p.Glu403Asp		132074569	NM_007054	A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419615	0.25552	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	T;T;T	0.73363	-0.74;3.51;-0.72	4.84	1.5	0.22942	.	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	N	0.25647	0.755	0.42291	D	0.992135	P;P;B;P	0.46578	0.88;0.88;0.0;0.88	P;P;B;P	0.62184	0.899;0.899;0.0;0.636	T	0.63510	-0.6621	10	0.20519	T	0.43	.	7.3784	0.26841	0.0:0.52:0.0:0.48	.	403;403;403;402	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	D	403;403;403;403;373	ENSP00000368020:E403D;ENSP00000368009:E403D;ENSP00000385808:E403D	ENSP00000368009:E403D	E	-	3	2	KIF3A	132074569	0.999000	0.42202	1.000000	0.80357	0.875000	0.50365	0.571000	0.23669	0.554000	0.29061	0.313000	0.20887	GAG		0.388	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054	
TCF7	6932	broad.mit.edu	37	5	133477985	133477985	+	Missense_Mutation	SNP	G	G	A	rs143237515	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:133477985G>A	ENST00000321584.4	+	6	941	c.745G>A	c.(745-747)Gac>Aac	p.D249N	TCF7_ENST00000432532.2_Missense_Mutation_p.D134N|TCF7_ENST00000395029.1_Missense_Mutation_p.D249N|TCF7_ENST00000378564.1_Missense_Mutation_p.D249N|TCF7_ENST00000321603.6_Missense_Mutation_p.D249N|TCF7_ENST00000520958.1_Missense_Mutation_p.D134N|TCF7_ENST00000395023.1_Missense_Mutation_p.D134N|TCF7_ENST00000378560.4_Missense_Mutation_p.D134N|TCF7_ENST00000518915.1_Missense_Mutation_p.D134N|TCF7_ENST00000342854.5_Missense_Mutation_p.D249N			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	249					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D249N(2)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCCCTTCGACCGCAACCT	0.617																																					p.D249N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G745A	5						.						57.0	51.0	53.0					5																	133477985		2203	4300	6503	133505884	SO:0001583	missense	6932	exon6			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.745G>A	5.37:g.133477985G>A	ENSP00000326540:p.Asp249Asn		133505884	NM_003202	B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	ENST00000321584.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.206268|4.206268	0.79127|0.79127	.|.	.|.	ENSG00000081059|ENSG00000081059	ENST00000342854;ENST00000361590;ENST00000321603;ENST00000321584;ENST00000378564;ENST00000395029;ENST00000517851;ENST00000521639;ENST00000378560;ENST00000432532;ENST00000520958;ENST00000518915;ENST00000395023;ENST00000519037;ENST00000517799|ENST00000517855	D;D;D;D;D;D;D;D;D;D;T;D|.	0.99270|.	-5.62;-5.57;-5.58;-5.58;-5.62;-5.64;-5.64;-5.66;-5.61;-5.66;0.8;-5.57|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.046809|.	0.85682|.	D|.	0.000000|.	T|T	0.67524|0.67524	0.2902|0.2902	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D;D;P;D;D;D|.	0.89917|.	1.0;0.999;0.835;0.999;1.0;1.0|.	D;D;B;D;D;D|.	0.83275|.	0.99;0.994;0.251;0.959;0.99;0.996|.	T|T	0.61272|0.61272	-0.7096|-0.7096	10|5	0.41790|.	T|.	0.15|.	.|.	17.8194|17.8194	0.88645|0.88645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	63;249;249;47;249;249|.	B3KSI6;P36402-9;B7WNT5;B3KQ75;P36402;P36402-5|.	.;.;.;.;TCF7_HUMAN;.|.	N|Q	249;249;249;249;249;249;165;134;134;134;134;134;134;109;27|37	ENSP00000340347:D249N;ENSP00000326654:D249N;ENSP00000326540:D249N;ENSP00000367827:D249N;ENSP00000378472:D249N;ENSP00000367822:D134N;ENSP00000397946:D134N;ENSP00000429547:D134N;ENSP00000430179:D134N;ENSP00000378469:D134N;ENSP00000429696:D109N;ENSP00000427968:D27N|.	ENSP00000326540:D249N|.	D|R	+|+	1|2	0|0	TCF7|TCF7	133505884|133505884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.505000|0.505000	0.33919|0.33919	8.763000|8.763000	0.91715|0.91715	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.617	TCF7-201	KNOWN	basic	protein_coding	protein_coding		NM_201634	
CDKL3	51265	broad.mit.edu	37	5	133643921	133643921	+	Silent	SNP	G	G	A	rs372650742		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:133643921G>A	ENST00000265334.4	-	9	1390	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C	CDKL3_ENST00000521118.1_Silent_p.C424C|CDKL3_ENST00000536186.1_Silent_p.C129C|CDKL3_ENST00000435240.2_Silent_p.C129C|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Silent_p.C235C|CDKL3_ENST00000609383.1_Silent_p.C129C|CDKL3_ENST00000523054.1_Silent_p.C235C|CDKL3_ENST00000435211.1_Silent_p.C424C|CDKL3_ENST00000521755.1_3'UTR|CDKL3_ENST00000523832.1_Silent_p.C424C	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	424					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.C424C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGAACCTCCGCAATGTGGAT	0.423																																					p.C424C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1272T	5						.	G	,	0,3750		0,0,1875	138.0	130.0	133.0		1272,1272	4.1	0.7	5		133	1,8219		0,1,4109	no	coding-synonymous,coding-synonymous	CDKL3	NM_001113575.1,NM_016508.3	,	0,1,5984	AA,AG,GG		0.0122,0.0,0.0084	,	424/593,424/456	133643921	1,11969	1875	4110	5985	133671820	SO:0001819	synonymous_variant	51265	exon9			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1272C>T	5.37:g.133643921G>A			133671820	NM_001113575	D3DQA0|D3DQA1|Q9P114	Silent	SNP	ENST00000265334.4	37	CCDS47264.1																																																																																				0.423	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575	
CDKL3	51265	broad.mit.edu	37	5	133644137	133644137	+	Silent	SNP	C	C	T	rs114357647	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:133644137C>T	ENST00000265334.4	-	9	1174	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	CDKL3_ENST00000521118.1_Silent_p.K352K|CDKL3_ENST00000536186.1_Silent_p.K57K|CDKL3_ENST00000435240.2_Silent_p.K57K|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Silent_p.K163K|CDKL3_ENST00000609383.1_Silent_p.K57K|CDKL3_ENST00000523054.1_Silent_p.K163K|CDKL3_ENST00000435211.1_Silent_p.K352K|CDKL3_ENST00000521755.1_Missense_Mutation_p.A36T|CDKL3_ENST00000523832.1_Silent_p.K352K	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	352					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.K352K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCCTTGGGCTTTTTCTCTT	0.333																																					p.K352K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1056A	5						.						43.0	43.0	43.0					5																	133644137		1816	4067	5883	133672036	SO:0001819	synonymous_variant	51265	exon9			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1056G>A	5.37:g.133644137C>T			133672036	NM_001113575	D3DQA0|D3DQA1|Q9P114	Silent	SNP	ENST00000265334.4	37	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776855	0.31411	.	.	ENSG00000006837	ENST00000521755	.	.	.	5.42	2.57	0.30868	.	.	.	.	.	T	0.62502	0.2433	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.60546	-0.7242	5	0.87932	D	0	-9.675	7.031	0.24967	0.0:0.6102:0.0:0.3898	.	.	.	.	T	36	.	ENSP00000427964:A36T	A	-	1	0	CDKL3	133672036	0.265000	0.24102	0.965000	0.40720	0.968000	0.65278	0.003000	0.13083	0.231000	0.21079	0.555000	0.69702	GCC		0.333	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575	
UBE2B	7320	broad.mit.edu	37	5	133726010	133726010	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:133726010C>T	ENST00000265339.2	+	6	842	c.425C>T	c.(424-426)tCg>tTg	p.S142L	UBE2B_ENST00000511807.1_3'UTR	NM_003337.2	NP_003328.1	P63146	UBE2B_HUMAN	ubiquitin-conjugating enzyme E2B	142					canonical Wnt signaling pathway (GO:0060070)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to insulin stimulus (GO:0032869)|chiasma assembly (GO:0051026)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|histone lysine demethylation (GO:0070076)|in utero embryonic development (GO:0001701)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of histone phosphorylation (GO:0033128)|positive regulation of reciprocal meiotic recombination (GO:0010845)|postreplication repair (GO:0006301)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|sperm axoneme assembly (GO:0007288)|spermatogenesis (GO:0007283)|synaptonemal complex organization (GO:0070193)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|replication fork (GO:0005657)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.S142L(1)		kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAAGAGTTTCGGCCATTGTT	0.393								Rad6 pathway																													p.S142L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C425T	5						.						76.0	74.0	75.0					5																	133726010		2203	4300	6503	133753909	SO:0001583	missense	7320	exon6			M74525	CCDS4174.1	5q31.1	2011-05-19	2011-05-19		ENSG00000119048	ENSG00000119048		"""Ubiquitin-conjugating enzymes E2"""	12473	protein-coding gene	gene with protein product		179095	"""ubiquitin-conjugating enzyme E2B (RAD6 homolog)"""			1559696	Standard	NM_003337		Approved	UBC2, HHR6B, RAD6B	uc003kzh.3	P63146	OTTHUMG00000129120	ENST00000265339.2:c.425C>T	5.37:g.133726010C>T	ENSP00000265339:p.Ser142Leu		133753909	NM_003337	B2R503|D3DQA2|P23567|Q4PJ15|Q9D0J6	Missense_Mutation	SNP	ENST00000265339.2	37	CCDS4174.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008030	0.54361	.	.	ENSG00000119048	ENST00000265339	T	0.70986	-0.53	5.95	5.08	0.68730	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.273133	0.31847	N	0.006965	T	0.49338	0.1551	N	0.03029	-0.43	0.52501	D	0.999951	B	0.16802	0.019	B	0.18871	0.023	T	0.48906	-0.8993	10	0.56958	D	0.05	-0.6297	14.8964	0.70646	0.0:0.9317:0.0:0.0683	.	142	P63146	UBE2B_HUMAN	L	142	ENSP00000265339:S142L	ENSP00000265339:S142L	S	+	2	0	UBE2B	133753909	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.818000	0.86416	1.523000	0.49018	0.563000	0.77884	TCG		0.393	UBE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251166.2	NM_003337	
TXNDC15	79770	broad.mit.edu	37	5	134235320	134235320	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:134235320G>A	ENST00000358387.4	+	5	1653	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	TXNDC15_ENST00000546290.1_Missense_Mutation_p.R320Q	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	343					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.R343Q(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTACCATTCGAACTGAGAGT	0.393																																					p.R343Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1028A	5						.						128.0	124.0	126.0					5																	134235320		2203	4300	6503	134263219	SO:0001583	missense	79770	exon5			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.1028G>A	5.37:g.134235320G>A	ENSP00000351157:p.Arg343Gln		134263219	NM_024715	D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.97|18.97	3.735373|3.735373	0.69189|0.69189	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000508779|ENST00000441965;ENST00000358387;ENST00000546290	.|T;T	.|0.53206	.|0.63;0.64	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.062950	.|0.64402	.|D	.|0.000004	T|T	0.31009|0.31009	0.0783|0.0783	N|N	0.17082|0.17082	0.46|0.46	0.54753|0.54753	D|D	0.999986|0.999986	.|D	.|0.57257	.|0.979	.|B	.|0.40410	.|0.328	T|T	0.06661|0.06661	-1.0814|-1.0814	5|10	.|0.31617	.|T	.|0.26	-20.0855|-20.0855	13.1886|13.1886	0.59697|0.59697	0.0724:0.0:0.9276:0.0|0.0724:0.0:0.9276:0.0	.|.	.|343	.|Q96J42	.|TXD15_HUMAN	K|Q	327|327;343;320	.|ENSP00000351157:R343Q;ENSP00000443942:R320Q	.|ENSP00000351157:R343Q	E|R	+|+	1|2	0|0	TXNDC15|TXNDC15	134263219|134263219	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.089000|5.089000	0.64492|0.64492	2.716000|2.716000	0.92895|0.92895	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.393	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715	
LECT2	3950	broad.mit.edu	37	5	135276973	135276973	+	Intron	SNP	C	C	T	rs189150676		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:135276973C>T	ENST00000522943.1	-	3	418				LECT2_ENST00000471827.1_Intron|FBXL21_ENST00000467490.1_RNA|FBXL21_ENST00000297158.9_RNA			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.F148F(1)|p.F306F(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAGGAATTCGAGACGTTCT	0.388													c|||	1	0.000199681	0.0	0.0	5008	,	,		19706	0.0		0.001	False		,,,				2504	0.0				p.F306F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C918T	5						.	T		0,3714		0,0,1857	116.0	112.0	113.0		918	-3.7	0.0	5		113	2,8182		0,2,4090	no	coding-synonymous	FBXL21	NM_012159.4		0,2,5947	TT,TC,CC		0.0244,0.0,0.0168		306/435	135276973	2,11896	1857	4092	5949	135304872	SO:0001627	intron_variant	26223	exon8			AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000522943.1:c.289+9938G>A	5.37:g.135276973C>T			135304872	NM_012159	B2RA90|O14565|Q52M49	Silent	SNP	ENST00000522943.1	37																																																																																					0.388	LECT2-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000381629.1	NM_002302	
PKD2L2	27039	broad.mit.edu	37	5	137261613	137261613	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:137261613G>A	ENST00000508883.1	+	12	1692	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	PKD2L2_ENST00000508638.1_Missense_Mutation_p.E455K|PKD2L2_ENST00000350250.4_Missense_Mutation_p.E522K|PKD2L2_ENST00000290431.5_Missense_Mutation_p.E556K|PKD2L2_ENST00000502810.1_Missense_Mutation_p.E534K			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	556					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.E556K(2)		breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGCTTTGACGAAAATGTAAG	0.338																																					p.E556K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G1666A	5						.						96.0	85.0	88.0					5																	137261613		1805	4071	5876	137289512	SO:0001583	missense	27039	exon12			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1666G>A	5.37:g.137261613G>A	ENSP00000424725:p.Glu556Lys		137289512	NM_014386	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37		.	.	.	.	.	.	.	.	.	.	G	12.83	2.055277	0.36277	.	.	ENSG00000078795	ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T	0.73363	-0.29;0.25;-0.74;-0.22;-0.26	4.48	4.48	0.54585	.	0.842464	0.10542	N	0.662529	D	0.82618	0.5076	M	0.62723	1.935	0.41589	D	0.988781	P;D;D	0.76494	0.721;0.999;0.963	B;D;B	0.70716	0.069;0.97;0.373	T	0.74899	-0.3507	10	0.16420	T	0.52	-8.4536	13.3763	0.60741	0.0:0.0:1.0:0.0	.	556;455;556	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	K	522;455;534;556;556	ENSP00000344177:E522K;ENSP00000423382:E455K;ENSP00000425513:E534K;ENSP00000424725:E556K;ENSP00000290431:E556K	ENSP00000290431:E556K	E	+	1	0	PKD2L2	137289512	0.988000	0.35896	0.998000	0.56505	0.979000	0.70002	1.269000	0.33074	2.436000	0.82500	0.563000	0.77884	GAA		0.338	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386	
WNT8A	7478	broad.mit.edu	37	5	137424671	137424671	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:137424671G>A	ENST00000398754.1	+	5	428	c.423G>A	c.(421-423)agG>agA	p.R141R	WNT8A_ENST00000506684.1_Silent_p.R159R	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	141					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.R141R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGGGAAAGGATCTCCAAAC	0.517																																					p.R141R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G423A	5						.						113.0	126.0	122.0					5																	137424671		2203	4299	6502	137452570	SO:0001819	synonymous_variant	7478	exon5			AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.423G>A	5.37:g.137424671G>A			137452570	NM_058244	Q96S51	Silent	SNP	ENST00000398754.1	37	CCDS43368.1																																																																																				0.517	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244	
BRD8	10902	broad.mit.edu	37	5	137486658	137486658	+	Missense_Mutation	SNP	C	C	T	rs372286313	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:137486658C>T	ENST00000254900.5	-	22	3267	c.2896G>A	c.(2896-2898)Gaa>Aaa	p.E966K		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	966					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.E966K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCACTTGATTCGTTGCTGCTG	0.443													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21620	0.0		0.0	False		,,,				2504	0.0				p.E966K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2896A	5						.	C	LYS/GLU	3,4403	6.2+/-15.9	0,3,2200	116.0	112.0	113.0		2896	2.0	1.0	5		113	0,8600		0,0,4300	no	missense	BRD8	NM_139199.1	56	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	966/1236	137486658	3,13003	2203	4300	6503	137514557	SO:0001583	missense	10902	exon22			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2896G>A	5.37:g.137486658C>T	ENSP00000254900:p.Glu966Lys		137514557	NM_139199	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784443	0.31593	6.81E-4	0.0	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.32515	1.78;1.45	3.89	1.99	0.26369	.	0.362069	0.20064	N	0.100011	T	0.11196	0.0273	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17930	-1.0353	10	0.06494	T	0.89	.	5.5388	0.17026	0.1954:0.6975:0.0:0.1071	.	966	Q9H0E9	BRD8_HUMAN	K	966;72	ENSP00000254900:E966K;ENSP00000392646:E72K	ENSP00000254900:E966K	E	-	1	0	BRD8	137514557	0.998000	0.40836	0.999000	0.59377	0.811000	0.45836	1.708000	0.37899	0.367000	0.24454	0.491000	0.48974	GAA		0.443	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
BRD8	10902	broad.mit.edu	37	5	137500012	137500012	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:137500012A>G	ENST00000254900.5	-	13	2193	c.1822T>C	c.(1822-1824)Tca>Cca	p.S608P	BRD8_ENST00000230901.5_Missense_Mutation_p.S681P|BRD8_ENST00000411594.2_Missense_Mutation_p.S611P|BRD8_ENST00000455658.2_Missense_Mutation_p.S567P|BRD8_ENST00000402931.1_Missense_Mutation_p.S608P|BRD8_ENST00000515014.1_5'UTR	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	608					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.S608P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TATTTACCTGACATTTCAAAC	0.453																																					p.S681P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2041C	5						.						136.0	130.0	132.0					5																	137500012		2203	4300	6503	137527911	SO:0001583	missense	10902	exon14			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1822T>C	5.37:g.137500012A>G	ENSP00000254900:p.Ser608Pro		137527911	NM_006696	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889072	0.52014	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.2	5.2	0.72013	.	0.524727	0.20687	N	0.087524	T	0.51244	0.1663	N	0.19112	0.55	0.51012	D	0.999907	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.996;0.966;0.981;0.985;0.958;0.995	D;D;P;P;P;P;P;P	0.69824	0.966;0.925;0.676;0.543;0.791;0.775;0.731;0.841	T	0.47824	-0.9087	10	0.33141	T	0.24	.	12.9333	0.58299	1.0:0.0:0.0:0.0	.	567;592;387;681;611;502;681;608	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	P	608;637;606;681;608;611;502;567;76	ENSP00000254900:S608P;ENSP00000398067:S637P;ENSP00000398873:S606P;ENSP00000230901:S681P;ENSP00000384845:S608P;ENSP00000394330:S611P;ENSP00000408396:S567P;ENSP00000426385:S76P	ENSP00000230901:S681P	S	-	1	0	BRD8	137527911	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.530000	0.67141	2.187000	0.69744	0.402000	0.26972	TCA		0.453	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
KIF20A	10112	broad.mit.edu	37	5	137518870	137518870	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:137518870G>A	ENST00000394894.3	+	8	1071	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.R264Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	282	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.R282Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACAAGTCATCGATGGGCACAG	0.502																																					p.R282Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G845A	5						.						61.0	58.0	59.0					5																	137518870		2203	4300	6503	137546769	SO:0001583	missense	10112	exon8			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.845G>A	5.37:g.137518870G>A	ENSP00000378356:p.Arg282Gln		137546769	NM_005733	B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	G	3.675	-0.066709	0.07273	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.70399	-0.44;-0.48	4.88	-1.26	0.09376	Kinesin, motor domain (3);	0.709223	0.11400	N	0.567885	T	0.47116	0.1428	N	0.25992	0.78	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.006;0.003	T	0.23762	-1.0179	10	0.13108	T	0.6	0.0424	2.276	0.04103	0.3341:0.1108:0.4357:0.1194	.	264;282	B4DL79;O95235	.;KI20A_HUMAN	Q	282;264	ENSP00000378356:R282Q;ENSP00000420880:R264Q	ENSP00000378356:R282Q	R	+	2	0	KIF20A	137546769	0.004000	0.15560	0.501000	0.27601	0.962000	0.63368	-0.276000	0.08514	-0.498000	0.06632	-0.150000	0.13652	CGA		0.502	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733	
CDC23	8697	broad.mit.edu	37	5	137528005	137528005	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:137528005C>A	ENST00000394886.2	-	11	1269	c.1239G>T	c.(1237-1239)aaG>aaT	p.K413N		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	413					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.K407N(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAATGGCATCTTAAGGATTT	0.443																																					p.K413N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1239T	5						.						87.0	87.0	87.0					5																	137528005		2203	4300	6503	137555904	SO:0001583	missense	8697	exon11			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1239G>T	5.37:g.137528005C>A	ENSP00000378350:p.Lys413Asn		137555904	NM_004661	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474175	0.63737	.	.	ENSG00000094880	ENST00000394886	T	0.58940	0.3	5.94	4.13	0.48395	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.044521	0.85682	D	0.000000	T	0.47002	0.1422	L	0.31926	0.97	0.80722	D	1	B	0.24618	0.107	B	0.32090	0.14	T	0.27773	-1.0064	10	0.23891	T	0.37	-20.1771	11.2906	0.49247	0.0:0.7848:0.0:0.2152	.	413	Q9UJX2	CDC23_HUMAN	N	413	ENSP00000378350:K413N	ENSP00000378350:K413N	K	-	3	2	CDC23	137555904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.190000	0.32126	0.811000	0.34303	0.650000	0.86243	AAG		0.443	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2		
KDM3B	51780	broad.mit.edu	37	5	137761258	137761258	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:137761258C>T	ENST00000314358.5	+	17	4598	c.4398C>T	c.(4396-4398)ttC>ttT	p.F1466F	KDM3B_ENST00000542866.1_Silent_p.F498F|KDM3B_ENST00000394866.1_Silent_p.F1122F	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1466					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.F1466F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGGATGGTTTCGAGATCATAT	0.413																																					p.F1466F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4398T	5						.						153.0	153.0	153.0					5																	137761258		2203	4300	6503	137789157	SO:0001819	synonymous_variant	51780	exon17			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4398C>T	5.37:g.137761258C>T			137789157	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	CCDS34242.1																																																																																				0.413	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
DNAH5	1767	broad.mit.edu	37	5	13776640	13776640	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:13776640T>G	ENST00000265104.4	-	55	9385	c.9281A>C	c.(9280-9282)aAa>aCa	p.K3094T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3094	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K3094T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTTCGAAATTTCTCCCCCAC	0.493									Kartagener syndrome																												p.K3094T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A9281C	5						.						97.0	91.0	93.0					5																	13776640		2203	4300	6503	13829640	SO:0001583	missense	1767	exon55	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9281A>C	5.37:g.13776640T>G	ENSP00000265104:p.Lys3094Thr		13829640	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806595	0.70682	.	.	ENSG00000039139	ENST00000265104	T	0.42513	0.97	5.97	4.79	0.61399	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	L	0.54863	1.705	0.51233	D	0.999912	D	0.55172	0.97	D	0.63877	0.919	T	0.48127	-0.9062	10	0.24483	T	0.36	.	12.3114	0.54929	0.0:0.0664:0.0:0.9336	.	3094	Q8TE73	DYH5_HUMAN	T	3094	ENSP00000265104:K3094T	ENSP00000265104:K3094T	K	-	2	0	DNAH5	13829640	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.124000	0.57924	1.056000	0.40484	0.533000	0.62120	AAA		0.493	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
CTNNA1	1495	broad.mit.edu	37	5	138240092	138240092	+	Nonsense_Mutation	SNP	C	C	T	rs201498915		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:138240092C>T	ENST00000302763.7	+	10	1441	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	CTNNA1_ENST00000355078.5_Nonsense_Mutation_p.R348*|CTNNA1_ENST00000518825.1_Nonsense_Mutation_p.R451*|CTNNA1_ENST00000540387.1_Nonsense_Mutation_p.R81*|CTNNA1_ENST00000520400.1_3'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	451					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.R451*(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAGCTTGTTCGAATGTCTGC	0.368																																					p.R451X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1351T	5						.						86.0	86.0	86.0					5																	138240092		2203	4300	6503	138267991	SO:0001587	stop_gained	1495	exon10			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1351C>T	5.37:g.138240092C>T	ENSP00000304669:p.Arg451*		138267991	NM_001903	Q12795|Q8N1C0	Nonsense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	37	6.341606	0.97489	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000522013;ENST00000523298;ENST00000517533;ENST00000523685;ENST00000519116;ENST00000540387	.	.	.	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0744	14.9977	0.71446	0.142:0.858:0.0:0.0	.	.	.	.	X	348;451;451;436;451;81;81;81;81;81;81	.	ENSP00000304669:R451X	R	+	1	2	CTNNA1	138267991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.026000	0.57232	2.941000	0.99782	0.655000	0.94253	CGA		0.368	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
MATR3	9782	broad.mit.edu	37	5	138661140	138661140	+	Silent	SNP	C	C	T	rs367739358		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:138661140C>T	ENST00000394805.3	+	13	2495	c.2160C>T	c.(2158-2160)atC>atT	p.I720I	MATR3_ENST00000510056.1_Silent_p.I720I|MATR3_ENST00000504203.1_Silent_p.I382I|MATR3_ENST00000394800.2_Silent_p.I768I|MATR3_ENST00000361059.2_Silent_p.I720I|MATR3_ENST00000503811.1_Silent_p.I432I|MATR3_ENST00000502499.1_Silent_p.I382I|MATR3_ENST00000509990.1_Silent_p.I720I|MATR3_ENST00000502929.1_Silent_p.I768I	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	720					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.I156I(1)|p.I720I(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGACAAGATCGAGGAACTTG	0.398																																					p.I720I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2160T	5						.						59.0	61.0	60.0					5																	138661140		2203	4300	6503	138689039	SO:0001819	synonymous_variant	9782	exon13			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.2160C>T	5.37:g.138661140C>T			138689039	NM_001194955	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	CCDS4210.1																																																																																				0.398	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	
SLC23A1	9963	broad.mit.edu	37	5	138707800	138707800	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:138707800G>A	ENST00000348729.3	-	14	1738	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	SLC23A1_ENST00000353963.3_Silent_p.I568I|CTB-43P18.1_ENST00000503553.3_RNA	NM_005847.4	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	564					brain development (GO:0007420)|dehydroascorbic acid transport (GO:0070837)|L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|lung development (GO:0030324)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|brush border (GO:0005903)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular organelle (GO:0043229)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dehydroascorbic acid transporter activity (GO:0033300)|L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium ion transmembrane transporter activity (GO:0015081)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)	p.I568I(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AGACTGGGCAGATAGGAATGT	0.418																																					p.I564I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1692T	5						.						141.0	142.0	142.0					5																	138707800		2203	4300	6503	138735699	SO:0001819	synonymous_variant	9963	exon14			AF058317	CCDS4212.1, CCDS4213.1	5q31.2	2013-07-18	2013-07-18	2003-03-21	ENSG00000170482	ENSG00000170482		"""Solute carriers"""	10974	protein-coding gene	gene with protein product		603790	"""solute carrier family 23 (nucleobase transporters), member 2"""	SLC23A2		9804989, 10331392	Standard	NM_005847		Approved	YSPL3, SVCT1	uc003leg.3	Q9UHI7	OTTHUMG00000129228	ENST00000348729.3:c.1692C>T	5.37:g.138707800G>A			138735699	NM_005847	O95191|Q8WWB6|Q9UGH4|Q9UI39	Silent	SNP	ENST00000348729.3	37	CCDS4212.1																																																																																				0.418	SLC23A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374185.1	NM_152685	
DNAJC18	202052	broad.mit.edu	37	5	138749871	138749871	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:138749871A>C	ENST00000302060.5	-	8	1123	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	348						integral component of membrane (GO:0016021)		p.L348R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGTTTGGAAAGTTTCTCACA	0.433																																					p.L348R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1043G	5						.						264.0	220.0	235.0					5																	138749871		2203	4300	6503	138777770	SO:0001583	missense	202052	exon8			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.1043T>G	5.37:g.138749871A>C	ENSP00000302843:p.Leu348Arg		138777770	NM_152686		Missense_Mutation	SNP	ENST00000302060.5	37	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260915	0.80246	.	.	ENSG00000170464	ENST00000302060	T	0.70282	-0.47	5.8	5.8	0.92144	Domain of unknown function DUF1977, DnaJ-like (1);	0.000000	0.85682	D	0.000000	D	0.86003	0.5829	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.88512	0.3090	10	0.87932	D	0	-3.7409	13.5193	0.61559	1.0:0.0:0.0:0.0	.	348	Q9H819	DJC18_HUMAN	R	348	ENSP00000302843:L348R	ENSP00000302843:L348R	L	-	2	0	DNAJC18	138777770	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.371000	0.90123	2.219000	0.72066	0.533000	0.62120	CTT		0.433	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686	
DNAH5	1767	broad.mit.edu	37	5	13864713	13864713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:13864713C>T	ENST00000265104.4	-	28	4493	c.4389G>A	c.(4387-4389)tgG>tgA	p.W1463*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1463	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W1463*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAAAGCCTGCCAGTCCTTCA	0.507									Kartagener syndrome																												p.W1463X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4389A	5						.						59.0	59.0	59.0					5																	13864713		2203	4300	6503	13917713	SO:0001587	stop_gained	1767	exon28	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4389G>A	5.37:g.13864713C>T	ENSP00000265104:p.Trp1463*		13917713	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	46	12.813360	0.99698	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.32	5.32	0.75619	.	0.141863	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0581	0.93074	0.0:1.0:0.0:0.0	.	.	.	.	X	1463	.	ENSP00000265104:W1463X	W	-	3	0	DNAH5	13917713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.695000	0.84257	2.488000	0.83962	0.632000	0.83419	TGG		0.507	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAJC18	202052	broad.mit.edu	37	5	138760752	138760752	+	Missense_Mutation	SNP	C	C	T	rs202006277		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:138760752C>T	ENST00000302060.5	-	5	691	c.611G>A	c.(610-612)cGa>cAa	p.R204Q		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	204						integral component of membrane (GO:0016021)		p.R204Q(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCGGTGCCGTCGACGGTAATA	0.463																																					p.R204Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G611A	5						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	259.0	238.0	245.0		611	3.9	1.0	5		245	0,8600		0,0,4300	yes	missense	DNAJC18	NM_152686.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	204/359	138760752	1,13005	2203	4300	6503	138788651	SO:0001583	missense	202052	exon5			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.611G>A	5.37:g.138760752C>T	ENSP00000302843:p.Arg204Gln		138788651	NM_152686		Missense_Mutation	SNP	ENST00000302060.5	37	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456019	0.26161	2.27E-4	0.0	ENSG00000170464	ENST00000302060;ENST00000508445	T;T	0.59224	0.28;0.81	5.72	3.93	0.45458	.	0.181772	0.50627	D	0.000118	T	0.38081	0.1027	N	0.17800	0.525	0.38946	D	0.958258	B	0.14438	0.01	B	0.04013	0.001	T	0.24154	-1.0168	10	0.30078	T	0.28	-6.7341	8.357	0.32335	0.0:0.7622:0.0:0.2378	.	204	Q9H819	DJC18_HUMAN	Q	204;37	ENSP00000302843:R204Q;ENSP00000426338:R37Q	ENSP00000302843:R204Q	R	-	2	0	DNAJC18	138788651	0.999000	0.42202	0.999000	0.59377	0.049000	0.14656	2.097000	0.41748	1.418000	0.47098	0.563000	0.77884	CGA		0.463	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686	
DNAH5	1767	broad.mit.edu	37	5	13876860	13876860	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:13876860A>G	ENST00000265104.4	-	22	3433	c.3329T>C	c.(3328-3330)gTt>gCt	p.V1110A	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1110	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1110A(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTTTCAGAAACATTCTTATA	0.353									Kartagener syndrome																												p.V1110A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3329C	5						.						101.0	108.0	106.0					5																	13876860		2203	4300	6503	13929860	SO:0001583	missense	1767	exon22	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3329T>C	5.37:g.13876860A>G	ENSP00000265104:p.Val1110Ala		13929860	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064875	0.76187	.	.	ENSG00000039139	ENST00000265104	T	0.28069	1.63	5.6	5.6	0.85130	.	0.118165	0.56097	D	0.000028	T	0.43986	0.1272	M	0.85299	2.745	0.50039	D	0.999847	B	0.19200	0.034	B	0.25291	0.059	T	0.46373	-0.9196	10	0.87932	D	0	.	16.0858	0.81049	1.0:0.0:0.0:0.0	.	1110	Q8TE73	DYH5_HUMAN	A	1110	ENSP00000265104:V1110A	ENSP00000265104:V1110A	V	-	2	0	DNAH5	13929860	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	8.604000	0.90877	2.264000	0.75181	0.533000	0.62120	GTT		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13894780	13894780	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:13894780C>A	ENST00000265104.4	-	16	2514	c.2410G>T	c.(2410-2412)Gaa>Taa	p.E804*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	804	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E804*(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGTGTTTTCTAAATAAGCC	0.388									Kartagener syndrome																												p.E804X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.G2410T	5						.						113.0	107.0	109.0					5																	13894780		2203	4300	6503	13947780	SO:0001587	stop_gained	1767	exon16	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2410G>T	5.37:g.13894780C>A	ENSP00000265104:p.Glu804*		13947780	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	37	6.498673	0.97616	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.23	4.29	0.51040	.	0.320980	0.37577	N	0.002039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	3.8269	0.08858	0.0:0.4586:0.1858:0.3557	.	.	.	.	X	804	.	ENSP00000265104:E804X	E	-	1	0	DNAH5	13947780	0.353000	0.24904	0.902000	0.35471	0.464000	0.32679	0.212000	0.17497	1.043000	0.40175	0.491000	0.48974	GAA		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PSD2	84249	broad.mit.edu	37	5	139222035	139222035	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:139222035G>T	ENST00000274710.3	+	15	2497	c.2292G>T	c.(2290-2292)aaG>aaT	p.K764N		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	764					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.K764N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACCACAAAGGATGCCACTG	0.597																																					p.K764N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2292T	5						.						66.0	70.0	69.0					5																	139222035		2203	4300	6503	139202219	SO:0001583	missense	84249	exon15			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.2292G>T	5.37:g.139222035G>T	ENSP00000274710:p.Lys764Asn		139202219	NM_032289	D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726316	0.48833	.	.	ENSG00000146005	ENST00000274710	T	0.13307	2.6	5.16	5.16	0.70880	.	0.480211	0.20708	N	0.087147	T	0.06508	0.0167	N	0.02225	-0.63	0.35609	D	0.808533	B	0.23735	0.09	B	0.24155	0.051	T	0.19614	-1.0300	10	0.87932	D	0	.	11.4298	0.50034	0.0817:0.0:0.9183:0.0	.	764	Q9BQI7	PSD2_HUMAN	N	764	ENSP00000274710:K764N	ENSP00000274710:K764N	K	+	3	2	PSD2	139202219	1.000000	0.71417	0.977000	0.42913	0.969000	0.65631	4.695000	0.61767	2.680000	0.91292	0.655000	0.94253	AAG		0.597	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289	
IGIP	492311	broad.mit.edu	37	5	139508089	139508089	+	Missense_Mutation	SNP	C	C	T	rs150564736		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:139508089C>T	ENST00000333305.3	+	1	2569	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C		NM_001007189.1	NP_001007190.1	A6NJ69	IGIP_HUMAN	IgA-inducing protein	10						extracellular region (GO:0005576)		p.R10C(1)									CATGAAGAAACGCAGTGTGTC	0.368																																					p.R10C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C28T	5						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	147.0	132.0	137.0		28	5.0	1.0	5	dbSNP_134	137	0,8600		0,0,4300	no	missense	IGIP	NM_001007189.1	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	10/54	139508089	1,13005	2203	4300	6503	139488273	SO:0001583	missense	492311	exon1			AB073888, BC017422, BC041380	CCDS34244.1	5q31	2013-08-06	2013-08-06	2011-09-22	ENSG00000182700	ENSG00000182700			33847	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 53"", ""IgA-inducing protein homolog (Bos taurus)"""	C5orf53		19201837, 12874223, 21074276	Standard	NM_001007189		Approved	LOC492311	uc003lfb.1	A6NJ69	OTTHUMG00000163359	ENST00000333305.3:c.28C>T	5.37:g.139508089C>T	ENSP00000327344:p.Arg10Cys		139488273	NM_001007189		Missense_Mutation	SNP	ENST00000333305.3	37	CCDS34244.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953577	0.34471	2.27E-4	0.0	ENSG00000182700	ENST00000333305	.	.	.	5.03	5.03	0.67393	.	0.000000	0.43416	D	0.000579	T	0.34948	0.0915	.	.	.	0.35139	D	0.768673	D	0.53312	0.959	B	0.31442	0.13	T	0.58847	-0.7564	8	0.87932	D	0	0.0147	14.5976	0.68417	0.0:1.0:0.0:0.0	.	10	A6NJ69	IGIP_HUMAN	C	10	.	ENSP00000327344:R10C	R	+	1	0	C5orf53	139488273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.181000	0.42547	2.724000	0.93272	0.650000	0.86243	CGC		0.368	IGIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372850.1	NM_001007189	
ANKHD1	54882	broad.mit.edu	37	5	139908590	139908590	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:139908590C>A	ENST00000360839.2	+	29	6213	c.6059C>A	c.(6058-6060)tCt>tAt	p.S2020Y	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S403Y|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S2020Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2020Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2020	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S2020Y(2)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGGAGTCTTTCTCTGCT	0.502																																					p.S2020Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6059A	5						.						129.0	135.0	133.0					5																	139908590		2203	4300	6503	139888774	SO:0001583	missense	404734	exon29			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6059C>A	5.37:g.139908590C>A	ENSP00000354085:p.Ser2020Tyr		139888774	NM_017747	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822394	0.71028	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	T;T;T;T;T;T;T	0.68903	-0.31;-0.36;1.76;1.79;1.37;-0.36;0.67	5.31	5.31	0.75309	.	0.079015	0.56097	D	0.000026	T	0.73560	0.3602	L	0.44542	1.39	0.47476	D	0.999433	P;P;D;P;P;P	0.56035	0.956;0.894;0.974;0.894;0.894;0.826	P;B;P;P;B;B	0.56700	0.642;0.365;0.804;0.467;0.365;0.365	T	0.75156	-0.3417	10	0.56958	D	0.05	.	18.9794	0.92749	0.0:1.0:0.0:0.0	.	403;450;403;2020;2020;2020	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.;.;.;.;.;ANKH1_HUMAN	Y	2020;2020;2020;676;455;542;403;2020;31	ENSP00000354085:S2020Y;ENSP00000297183:S2020Y;ENSP00000393204:S676Y;ENSP00000390034:S542Y;ENSP00000437687:S403Y;ENSP00000432016:S2020Y;ENSP00000396882:S31Y	ENSP00000396882:S31Y	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139888774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.054000	0.76649	2.489000	0.83994	0.655000	0.94253	TCT		0.502	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
IK	3550	broad.mit.edu	37	5	140032648	140032648	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140032648A>C	ENST00000417647.2	+	5	462	c.323A>C	c.(322-324)gAt>gCt	p.D108A	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	108					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.D108A(1)		large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGGAGAGATGGAGTGAAC	0.493																																					p.D108A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A323C	5						.						106.0	100.0	102.0					5																	140032648		1948	4146	6094	140012832	SO:0001583	missense	3550	exon5			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.323A>C	5.37:g.140032648A>C	ENSP00000396301:p.Asp108Ala		140012832	NM_006083	Q6IPD8	Missense_Mutation	SNP	ENST00000417647.2	37	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.957850	0.92726	.	.	ENSG00000113141	ENST00000513256;ENST00000417647;ENST00000507593;ENST00000508301;ENST00000261812;ENST00000502899	.	.	.	5.94	5.94	0.96194	RED-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.55990	1.75	0.80722	D	1	P;D	0.69078	0.947;0.997	P;D	0.81914	0.801;0.995	T	0.71774	-0.4491	9	0.30854	T	0.27	.	16.069	0.80909	1.0:0.0:0.0:0.0	.	108;108	Q9UK43;Q13123	.;RED_HUMAN	A	104;108;115;108;108;108	.	ENSP00000261812:D108A	D	+	2	0	IK	140012832	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.086000	0.94088	2.275000	0.75901	0.528000	0.53228	GAT		0.493	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	
HARS	3035	broad.mit.edu	37	5	140056457	140056457	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140056457G>A	ENST00000504156.1	-	10	1695	c.976C>T	c.(976-978)Cga>Tga	p.R326*	HARS_ENST00000307633.3_Nonsense_Mutation_p.R266*|HARS_ENST00000448240.1_Nonsense_Mutation_p.R131*|HARS_ENST00000504366.1_Nonsense_Mutation_p.R257*|HARS_ENST00000438307.2_Nonsense_Mutation_p.R286*|HARS_ENST00000415192.2_Nonsense_Mutation_p.R252*|HARS_ENST00000431330.2_Nonsense_Mutation_p.R212*|HARS_ENST00000457527.2_Nonsense_Mutation_p.R306*	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	326					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)	p.R326*(1)|p.R216*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TCCAGCCCTCGAGCAAGGCTC	0.572																																					p.R326X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C976T	5						.						103.0	110.0	107.0					5																	140056457		2203	4300	6503	140036641	SO:0001587	stop_gained	3035	exon10			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.976C>T	5.37:g.140056457G>A	ENSP00000425634:p.Arg326*		140036641	NM_002109	B4DHQ1|B4DY73|D6REN6|J3KNE5	Nonsense_Mutation	SNP	ENST00000504156.1	37	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	G	49	15.719982	0.99843	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000504366;ENST00000307633;ENST00000448240;ENST00000438307;ENST00000415192;ENST00000507746	.	.	.	5.64	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7835	16.0291	0.80564	0.0:0.0:0.8645:0.1355	.	.	.	.	X	326;306;212;257;266;131;286;252;216	.	ENSP00000304668:R266X	R	-	1	2	HARS	140036641	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	6.475000	0.73582	1.474000	0.48178	0.563000	0.77884	CGA		0.572	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109	
HARS	3035	broad.mit.edu	37	5	140062768	140062768	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140062768G>A	ENST00000504156.1	-	3	936	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	HARS_ENST00000307633.3_Intron|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000504366.1_Missense_Mutation_p.R4C|HARS_ENST00000438307.2_Intron|HARS_ENST00000415192.2_Missense_Mutation_p.R73C|HARS_ENST00000431330.2_Intron|HARS_ENST00000457527.2_Missense_Mutation_p.R73C	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	73					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)	p.R73C(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	ACCTTCTCGCGAACTGCCATC	0.458																																					p.R73C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C217T	5						.						110.0	97.0	101.0					5																	140062768		2203	4300	6503	140042952	SO:0001583	missense	3035	exon3			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.217C>T	5.37:g.140062768G>A	ENSP00000425634:p.Arg73Cys		140042952	NM_002109	B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	ENST00000504156.1	37	CCDS4237.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452680	0.84209	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000504366;ENST00000415192;ENST00000507746	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;1.3	5.56	4.67	0.58626	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.90438	0.7006	H	0.99811	4.8	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.985;0.999;1.0;1.0	D	0.94834	0.7999	10	0.87932	D	0	-2.0E-4	15.544	0.76081	0.0:0.0:0.8605:0.1395	.	73;73;73;73;73	B4DEA2;B4DDD8;Q52NV4;D6REN6;P12081	.;.;.;.;SYHC_HUMAN	C	73;73;4;73;73	ENSP00000425634:R73C;ENSP00000387893:R73C;ENSP00000430063:R4C;ENSP00000411085:R73C;ENSP00000425889:R73C	ENSP00000411085:R73C	R	-	1	0	HARS	140042952	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.506000	0.60428	1.439000	0.47511	0.655000	0.94253	CGC		0.458	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251673.2	NM_002109	
PCDHA1	56147	broad.mit.edu	37	5	140166325	140166325	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140166325G>A	ENST00000504120.2	+	1	450	c.450G>A	c.(448-450)tcG>tcA	p.S150S	PCDHA1_ENST00000378133.3_Silent_p.S150S|PCDHA1_ENST00000394633.3_Silent_p.S150S	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	150					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S150S(4)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGAATTCGCGTTTTCCGA	0.448																																					p.S150S												.	.	4	Substitution - coding silent(4)	large_intestine(2)|breast(2)	c.G450A	5						.						86.0	96.0	93.0					5																	140166325		2203	4300	6503	140146509	SO:0001819	synonymous_variant	56147	exon1			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.450G>A	5.37:g.140166325G>A			140146509	NM_031410	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																				0.448	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
PCDHA3	56145	broad.mit.edu	37	5	140181345	140181345	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140181345A>C	ENST00000522353.2	+	1	563	c.563A>C	c.(562-564)gAa>gCa	p.E188A	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E188A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	188	Cadherin 2. {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)	p.E188A(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATGAGGAAATTAAATCC	0.373																																					p.E188A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A563C	5						.						58.0	62.0	61.0					5																	140181345		2203	4300	6503	140161529	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.563A>C	5.37:g.140181345A>C	ENSP00000429808:p.Glu188Ala		140161529	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.533202	0.00951	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.20598	2.06;2.06	4.86	3.69	0.42338	Cadherin (4);Cadherin-like (1);	0.565969	0.14371	U	0.323820	T	0.20495	0.0493	L	0.55481	1.735	0.09310	N	1	B;B	0.28783	0.186;0.222	B;B	0.34180	0.177;0.158	T	0.21280	-1.0250	10	0.11182	T	0.66	.	9.8674	0.41152	0.9172:0.0:0.0828:0.0	.	188;188	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	A	188	ENSP00000429808:E188A;ENSP00000434086:E188A	ENSP00000429808:E188A	E	+	2	0	PCDHA3	140161529	0.000000	0.05858	0.012000	0.15200	0.117000	0.20001	0.340000	0.19892	1.954000	0.56735	0.383000	0.25322	GAA		0.373	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA3	56145	broad.mit.edu	37	5	140181578	140181578	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140181578G>A	ENST00000522353.2	+	1	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A266T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	266	Cadherin 3. {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)	p.A266T(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGTTAACGCCACCGATTT	0.413																																					p.A266T												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G796A	5						.						71.0	67.0	68.0					5																	140181578		2203	4300	6503	140161762	SO:0001583	missense	56145	exon1			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.796G>A	5.37:g.140181578G>A	ENSP00000429808:p.Ala266Thr		140161762	NM_031497	O75286	Missense_Mutation	SNP	ENST00000522353.2	37	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	17.87	3.495595	0.64186	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.61392	0.11;0.11	4.86	4.86	0.63082	Cadherin (5);Cadherin-like (1);	0.000000	0.41500	U	0.000869	D	0.85869	0.5797	H	0.99391	4.545	0.40474	D	0.980373	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.91531	0.5242	10	0.87932	D	0	.	13.3278	0.60469	0.0:0.0:0.8419:0.1581	.	266;266	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	266	ENSP00000429808:A266T;ENSP00000434086:A266T	ENSP00000429808:A266T	A	+	1	0	PCDHA3	140161762	1.000000	0.71417	0.992000	0.48379	0.548000	0.35241	8.017000	0.88712	2.414000	0.81942	0.467000	0.42956	GCC		0.413	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
PCDHA4	56144	broad.mit.edu	37	5	140187338	140187338	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140187338T>C	ENST00000530339.1	+	1	566	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.V189A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.V189A	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	189	Cadherin 2. {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)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGAGCTGGTAAAAGGTCTT	0.483																																					p.V189A												.	.	0			c.T566C	5						.						46.0	55.0	52.0					5																	140187338		2203	4300	6503	140167522	SO:0001583	missense	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.566T>C	5.37:g.140187338T>C	ENSP00000435300:p.Val189Ala		140167522	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	t	4.399	0.073781	0.08485	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.37915	1.17;1.17;1.17	4.47	1.87	0.25490	Cadherin (4);Cadherin-like (1);	1.382900	0.05418	U	0.543639	T	0.28928	0.0718	L	0.42245	1.32	0.09310	N	1	B;B;B	0.18968	0.002;0.018;0.032	B;B;B	0.20184	0.008;0.028;0.028	T	0.26052	-1.0114	10	0.15066	T	0.55	.	5.5607	0.17142	0.2098:0.0945:0.0:0.6957	.	189;189;189	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	A	189	ENSP00000423470:V189A;ENSP00000349344:V189A;ENSP00000435300:V189A	ENSP00000349344:V189A	V	+	2	0	PCDHA4	140167522	0.000000	0.05858	0.264000	0.24511	0.639000	0.38242	-0.895000	0.04118	0.700000	0.31782	0.460000	0.39030	GTA		0.483	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHA4	56144	broad.mit.edu	37	5	140187723	140187723	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140187723A>C	ENST00000530339.1	+	1	951	c.951A>C	c.(949-951)gaA>gaC	p.E317D	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.E317D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E317D	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	317	Cadherin 3. {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)	p.E317D(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCTATGAAATTATTGTAG	0.363																																					p.E317D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A951C	5						.						108.0	115.0	113.0					5																	140187723		2203	4300	6503	140167907	SO:0001583	missense	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.951A>C	5.37:g.140187723A>C	ENSP00000435300:p.Glu317Asp		140167907	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	a	12.13	1.845114	0.32606	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.55413	0.52;0.52;0.52	4.34	1.91	0.25777	Cadherin (4);Cadherin-like (1);	0.178185	0.26159	U	0.025995	T	0.50548	0.1622	M	0.76328	2.33	0.23238	N	0.998064	B;B;B	0.28324	0.04;0.076;0.207	B;B;B	0.35931	0.073;0.214;0.214	T	0.48210	-0.9055	10	0.45353	T	0.12	.	5.1478	0.14994	0.5442:0.1476:0.3082:0.0	.	317;317;317	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	D	317	ENSP00000423470:E317D;ENSP00000349344:E317D;ENSP00000435300:E317D	ENSP00000349344:E317D	E	+	3	2	PCDHA4	140167907	0.000000	0.05858	0.796000	0.32109	0.982000	0.71751	-0.332000	0.07904	0.184000	0.20083	0.383000	0.25322	GAA		0.363	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHA4	56144	broad.mit.edu	37	5	140188642	140188642	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140188642G>A	ENST00000530339.1	+	1	1870	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.V624M|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.V624M	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	624	Cadherin 6. {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)	p.V624M(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGTTCCGCGTGGGGCTGTA	0.677																																					p.V624M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1870A	5						.						92.0	91.0	91.0					5																	140188642		2203	4300	6503	140168826	SO:0001583	missense	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1870G>A	5.37:g.140188642G>A	ENSP00000435300:p.Val624Met		140168826	NM_031500	O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	10.52	1.372105	0.24857	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.59502	0.26;0.26;0.26	4.08	3.19	0.36642	Cadherin (4);Cadherin-like (1);	0.240961	0.21684	U	0.070666	T	0.72112	0.3420	M	0.77616	2.38	0.23997	N	0.996222	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.87578	0.767;0.984;0.998	T	0.60306	-0.7289	10	0.87932	D	0	.	8.1472	0.31119	0.1835:0.0:0.8165:0.0	.	624;624;624	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	M	624	ENSP00000423470:V624M;ENSP00000349344:V624M;ENSP00000435300:V624M	ENSP00000349344:V624M	V	+	1	0	PCDHA4	140168826	0.050000	0.20438	1.000000	0.80357	0.267000	0.26476	0.307000	0.19296	2.006000	0.58801	0.484000	0.47621	GTG		0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHA4	56144	broad.mit.edu	37	5	140189143	140189143	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140189143G>T	ENST00000530339.1	+	1	2371	c.2371G>T	c.(2371-2373)Gaa>Taa	p.E791*	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Nonsense_Mutation_p.E791*|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Nonsense_Mutation_p.E791*	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	791	6 X 4 AA repeats of P-X-X-P.				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)	p.E791*(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAACTGAGGAATCCTTTGC	0.423																																					p.E791X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2371T	5						.						131.0	144.0	140.0					5																	140189143		2203	4300	6503	140169327	SO:0001587	stop_gained	56144	exon1			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2371G>T	5.37:g.140189143G>T	ENSP00000435300:p.Glu791*		140169327	NM_031500	O75285|Q2M253	Nonsense_Mutation	SNP	ENST00000530339.1	37	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.915650	0.92178	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	.	.	.	3.93	0.876	0.19138	.	0.362536	0.19513	U	0.112465	.	.	.	.	.	.	0.28341	N	0.921336	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	7.1557	0.25637	0.1746:0.1422:0.6832:0.0	.	.	.	.	X	791	.	ENSP00000349344:E791X	E	+	1	0	PCDHA4	140169327	0.009000	0.17119	0.003000	0.11579	0.525000	0.34531	0.455000	0.21843	0.226000	0.20979	0.491000	0.48974	GAA		0.423	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHA6	56142	broad.mit.edu	37	5	140210045	140210045	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140210045A>C	ENST00000529310.1	+	1	2483	c.2369A>C	c.(2368-2370)gAt>gCt	p.D790A	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	790					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D790A(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAATCAGGATTTAAATGAA	0.383																																					p.D790A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2369C	5						.						61.0	65.0	64.0					5																	140210045		2203	4300	6503	140190229	SO:0001583	missense	56142	exon1			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2369A>C	5.37:g.140210045A>C	ENSP00000433378:p.Asp790Ala		140190229	NM_018909	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	A	0.030	-1.339952	0.01277	.	.	ENSG00000081842	ENST00000529310	T	0.11712	2.75	4.01	-0.239	0.13050	.	1.323210	0.06143	U	0.672734	T	0.06050	0.0157	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.43766	-0.9371	10	0.14656	T	0.56	.	3.7649	0.08619	0.4074:0.3987:0.0846:0.1093	.	790;790	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	A	790	ENSP00000433378:D790A	ENSP00000433378:D790A	D	+	2	0	PCDHA6	140190229	.	.	0.002000	0.10522	0.186000	0.23388	.	.	-0.091000	0.12440	-2.470000	0.00202	GAT		0.383	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909	
PCDHA8	56140	broad.mit.edu	37	5	140221112	140221112	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140221112A>C	ENST00000531613.1	+	1	206	c.206A>C	c.(205-207)aAa>aCa	p.K69T	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.K69T|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	69	Cadherin 1. {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)	p.K69T(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCGTCCAAAAGACACCGG	0.652																																					p.K69T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A206C	5						.						48.0	68.0	61.0					5																	140221112		2203	4298	6501	140201296	SO:0001583	missense	56140	exon1			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.206A>C	5.37:g.140221112A>C	ENSP00000434655:p.Lys69Thr		140201296	NM_031856	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	A	5.757	0.324105	0.10900	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.37915	1.17;1.17	3.95	1.5	0.22942	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.992800	0.08145	U	0.991069	T	0.39036	0.1063	L	0.52905	1.665	0.09310	N	1	B;B	0.29341	0.242;0.203	B;B	0.37780	0.258;0.099	T	0.46442	-0.9191	10	0.66056	D	0.02	.	7.6477	0.28329	0.602:0.0:0.398:0.0	.	69;69	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	69	ENSP00000434655:K69T;ENSP00000367363:K69T	ENSP00000367363:K69T	K	+	2	0	PCDHA8	140201296	0.022000	0.18835	0.340000	0.25575	0.155000	0.21991	0.982000	0.29539	0.089000	0.17243	0.455000	0.32223	AAA		0.652	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHA8	56140	broad.mit.edu	37	5	140221633	140221633	+	Missense_Mutation	SNP	G	G	A	rs536759978		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140221633G>A	ENST00000531613.1	+	1	727	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E243K|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	243	Cadherin 3. {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)	p.E243K(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCACTTTCGAACAGTCTGA	0.478																																					p.E243K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G727A	5						.						56.0	54.0	55.0					5																	140221633		2203	4300	6503	140201817	SO:0001583	missense	56140	exon1			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.727G>A	5.37:g.140221633G>A	ENSP00000434655:p.Glu243Lys		140201817	NM_031856	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435056	0.43224	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.01725	4.67;4.67	3.73	1.77	0.24775	Cadherin (3);Cadherin-like (1);	0.442683	0.16114	U	0.228929	T	0.01800	0.0057	L	0.59967	1.855	0.09310	N	1	P;P	0.48016	0.846;0.904	B;B	0.34652	0.132;0.187	T	0.49322	-0.8952	10	0.59425	D	0.04	.	4.4063	0.11411	0.2279:0.3793:0.3928:0.0	.	243;243	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	K	243	ENSP00000434655:E243K;ENSP00000367363:E243K	ENSP00000367363:E243K	E	+	1	0	PCDHA8	140201817	0.000000	0.05858	0.004000	0.12327	0.312000	0.27988	0.000000	0.12993	0.144000	0.18951	0.558000	0.71614	GAA		0.478	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHA8	56140	broad.mit.edu	37	5	140221796	140221796	+	Missense_Mutation	SNP	G	G	A	rs141101675	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140221796G>A	ENST00000531613.1	+	1	890	c.890G>A	c.(889-891)cGa>cAa	p.R297Q	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R297Q|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	297	Cadherin 3. {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)	p.R297Q(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATAGATCGAAATACGGGA	0.403																																					p.R297Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G890A	5						.	G	,,,,,,,GLN/ARG,,,GLN/ARG	0,4406		0,0,2203	56.0	61.0	59.0		,,,,,,,890,,,890	-6.1	0.0	5	dbSNP_134	59	2,8596		0,2,4297	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,43,,,43	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,,,,	,,,,,,,297/951,,,297/815	140221796	2,13002	2203	4299	6502	140201980	SO:0001583	missense	56140	exon1			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.890G>A	5.37:g.140221796G>A	ENSP00000434655:p.Arg297Gln		140201980	NM_031856	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985302	0.35036	0.0	2.33E-4	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.51325	0.71;0.71	3.69	-6.05	0.02172	Cadherin (4);Cadherin-like (1);	1.944250	0.03754	U	0.256999	T	0.25269	0.0614	N	0.05306	-0.075	0.09310	N	1	B;B	0.17038	0.02;0.002	B;B	0.12837	0.008;0.001	T	0.28586	-1.0039	10	0.49607	T	0.09	.	9.0915	0.36614	0.4747:0.2082:0.3171:0.0	.	297;297	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	Q	297	ENSP00000434655:R297Q;ENSP00000367363:R297Q	ENSP00000367363:R297Q	R	+	2	0	PCDHA8	140201980	0.000000	0.05858	0.000000	0.03702	0.280000	0.26924	-3.126000	0.00593	-1.044000	0.03254	-0.564000	0.04169	CGA		0.403	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHA10	56139	broad.mit.edu	37	5	140236505	140236505	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140236505A>C	ENST00000307360.5	+	1	872	c.872A>C	c.(871-873)aAa>aCa	p.K291T	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.K291T|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K291T(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAGAAGGAAATTTTGGATA	0.358																																					p.K291T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A872C	5						.						72.0	71.0	71.0					5																	140236505		2196	4266	6462	140216689	SO:0001583	missense	56139	exon1			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.872A>C	5.37:g.140236505A>C	ENSP00000304234:p.Lys291Thr		140216689	NM_031860	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	A	0.134	-1.109492	0.01813	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.52057	0.68;0.68	4.29	3.09	0.35607	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26846	0.0657	N	0.16066	0.365	0.09310	N	1	B;B;B	0.19200	0.034;0.006;0.006	B;B;B	0.19148	0.024;0.023;0.018	T	0.19943	-1.0290	9	0.21014	T	0.42	.	6.1181	0.20137	0.6652:0.1351:0.0:0.1996	.	291;291;291	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	291	ENSP00000421030:K291T;ENSP00000304234:K291T	ENSP00000304234:K291T	K	+	2	0	PCDHA10	140216689	0.000000	0.05858	0.508000	0.27688	0.019000	0.09904	0.067000	0.14510	0.758000	0.33059	0.459000	0.35465	AAA		0.358	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHA11	56138	broad.mit.edu	37	5	140249070	140249070	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140249070G>A	ENST00000398640.2	+	1	382	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	128	Cadherin 1. {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)	p.D128N(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACATTAACGACAACCCGCC	0.562																																					p.D128N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G382A	5						.						103.0	118.0	113.0					5																	140249070		2203	4300	6503	140229254	SO:0001583	missense	56138	exon1			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.382G>A	5.37:g.140249070G>A	ENSP00000381636:p.Asp128Asn		140229254	NM_031861	B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529225	0.85706	.	.	ENSG00000249158	ENST00000398640	T	0.64085	-0.08	5.59	5.59	0.84812	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89280	0.6670	H	0.99498	4.595	0.49299	D	0.999771	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93769	0.7073	9	0.87932	D	0	.	19.5993	0.95554	0.0:0.0:1.0:0.0	.	128;128	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	N	128	ENSP00000381636:D128N	ENSP00000381636:D128N	D	+	1	0	PCDHA11	140229254	1.000000	0.71417	0.981000	0.43875	0.672000	0.39443	9.593000	0.98250	2.628000	0.89032	0.655000	0.94253	GAC		0.562	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902	
PCDHA13	56136	broad.mit.edu	37	5	140262934	140262934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140262934G>T	ENST00000289272.2	+	1	1081	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*	PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Nonsense_Mutation_p.E361*|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E361*(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCATCAGAGAAGACACTCA	0.502																																					p.E361X	Melanoma(147;1739 1852 5500 27947 37288)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1081T	5						.						109.0	110.0	110.0					5																	140262934		2203	4300	6503	140243118	SO:0001587	stop_gained	56136	exon1			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1081G>T	5.37:g.140262934G>T	ENSP00000289272:p.Glu361*		140243118	NM_031865	O75277	Nonsense_Mutation	SNP	ENST00000289272.2	37	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	36	5.960852	0.97151	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6076	0.91272	0.0:0.0:1.0:0.0	.	.	.	.	X	361	.	ENSP00000289272:E361X	E	+	1	0	PCDHA13	140243118	1.000000	0.71417	0.253000	0.24343	0.886000	0.51366	9.726000	0.98782	2.471000	0.83476	0.561000	0.74099	GAA		0.502	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHAC2	56134	broad.mit.edu	37	5	140348138	140348138	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140348138G>A	ENST00000289269.5	+	1	2319	c.1787G>A	c.(1786-1788)cGa>cAa	p.R596Q	PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	596	Cadherin 6. {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)	p.R596Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTGCCTCGAACTGCCCCT	0.517																																					p.R596Q	Melanoma(190;638 2083 3390 11909 52360)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1787A	5						.						95.0	83.0	87.0					5																	140348138		2203	4300	6503	140328322	SO:0001583	missense	56134	exon1			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1787G>A	5.37:g.140348138G>A	ENSP00000289269:p.Arg596Gln		140328322	NM_018899	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603927	0.66445	.	.	ENSG00000243232	ENST00000289269	T	0.50277	0.75	6.02	6.02	0.97574	Cadherin (3);Cadherin-like (1);	0.000000	0.34484	N	0.003932	T	0.68732	0.3033	M	0.66506	2.035	0.43399	D	0.995522	P;D	0.89917	0.932;1.0	P;D	0.67900	0.54;0.954	T	0.68112	-0.5495	10	0.66056	D	0.02	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	596;596	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	Q	596	ENSP00000289269:R596Q	ENSP00000289269:R596Q	R	+	2	0	PCDHAC2	140328322	0.003000	0.15002	1.000000	0.80357	0.997000	0.91878	1.480000	0.35464	2.865000	0.98341	0.655000	0.94253	CGA		0.517	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899	
PCDHB3	56132	broad.mit.edu	37	5	140481617	140481617	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140481617G>A	ENST00000231130.2	+	1	1384	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	462	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E462K(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.602																																					p.E462K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1384A	5						.						84.0	82.0	83.0					5																	140481617		2203	4296	6499	140461801	SO:0001583	missense	56132	exon1			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1384G>A	5.37:g.140481617G>A	ENSP00000231130:p.Glu462Lys		140461801	NM_018937	B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921277	0.92249	.	.	ENSG00000113205	ENST00000231130	T	0.76316	-1.01	4.26	4.26	0.50523	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.92583	0.7644	H	0.98068	4.14	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	D	0.95691	0.8740	9	0.87932	D	0	.	17.0425	0.86493	0.0:0.0:1.0:0.0	.	462	Q9Y5E6	PCDB3_HUMAN	K	462	ENSP00000231130:E462K	ENSP00000231130:E462K	E	+	1	0	PCDHB3	140461801	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.742000	0.98846	2.084000	0.62774	0.563000	0.77884	GAG		0.602	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHB5	26167	broad.mit.edu	37	5	140516715	140516715	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140516715G>A	ENST00000231134.5	+	1	1916	c.1699G>A	c.(1699-1701)Ggc>Agc	p.G567S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	567	Cadherin 6. {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)	p.G567S(1)		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)			GCTGCAGAACGGCTCGGCGCC	0.721																																					p.G567S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1699A	5						.						24.0	30.0	28.0					5																	140516715		2198	4292	6490	140496899	SO:0001583	missense	26167	exon1			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.1699G>A	5.37:g.140516715G>A	ENSP00000231134:p.Gly567Ser		140496899	NM_015669	Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	6.681	0.494316	0.12702	.	.	ENSG00000113209	ENST00000231134	T	0.60797	0.16	4.48	3.61	0.41365	Cadherin-like (1);	.	.	.	.	T	0.40423	0.1116	N	0.20304	0.555	0.09310	N	0.999999	B	0.22080	0.064	B	0.15870	0.014	T	0.26849	-1.0091	9	0.45353	T	0.12	.	8.4717	0.32988	0.2382:0.0:0.7618:0.0	.	567	Q9Y5E4	PCDB5_HUMAN	S	567	ENSP00000231134:G567S	ENSP00000231134:G567S	G	+	1	0	PCDHB5	140496899	0.000000	0.05858	0.968000	0.41197	0.088000	0.18126	0.107000	0.15375	1.016000	0.39470	0.194000	0.17425	GGC		0.721	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
PCDHB6	56130	broad.mit.edu	37	5	140531180	140531180	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140531180G>A	ENST00000231136.1	+	1	1342	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A312T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	448	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGTCCCCGCCTTCACCCA	0.567																																					p.A448T												.	.	0			c.G1342A	5						.						98.0	104.0	102.0					5																	140531180		2203	4298	6501	140511364	SO:0001583	missense	56130	exon1			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1342G>A	5.37:g.140531180G>A	ENSP00000231136:p.Ala448Thr		140511364	NM_018939	B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	8.076	0.771224	0.16051	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01767	4.65;4.65	4.18	-4.26	0.03755	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01092	0.0036	N	0.20445	0.575	0.09310	N	1	B	0.21520	0.057	B	0.18263	0.021	T	0.46748	-0.9169	9	0.35671	T	0.21	.	1.3351	0.02143	0.3849:0.1028:0.3033:0.2089	.	448	Q9Y5E3	PCDB6_HUMAN	T	312;448;233	ENSP00000438466:A312T;ENSP00000231136:A448T	ENSP00000231136:A448T	A	+	1	0	PCDHB6	140511364	0.000000	0.05858	0.162000	0.22713	0.806000	0.45545	-0.013000	0.12678	-1.149000	0.02843	-1.768000	0.00664	GCC		0.567	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939	
PCDHB7	56129	broad.mit.edu	37	5	140553608	140553608	+	Missense_Mutation	SNP	G	G	A	rs267600426		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140553608G>A	ENST00000231137.3	+	1	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	398	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E398K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATCTGTCGAAAACTTCTA	0.493																																					p.E398K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1192A	5						.						77.0	78.0	78.0					5																	140553608		2203	4300	6503	140533792	SO:0001583	missense	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1192G>A	5.37:g.140553608G>A	ENSP00000231137:p.Glu398Lys		140533792	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338376	0.01287	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.50813	0.73	4.61	1.55	0.23275	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.22589	0.0545	N	0.11313	0.125	0.09310	N	1	B	0.21147	0.052	B	0.24701	0.055	T	0.22556	-1.0213	9	0.17832	T	0.49	.	1.9689	0.03402	0.2013:0.268:0.3937:0.137	.	398	Q9Y5E2	PCDB7_HUMAN	K	398;181	ENSP00000231137:E398K	ENSP00000231137:E398K	E	+	1	0	PCDHB7	140533792	0.967000	0.33354	0.665000	0.29768	0.148000	0.21650	2.313000	0.43735	0.456000	0.26937	0.650000	0.86243	GAA		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHB8	56128	broad.mit.edu	37	5	140558390	140558390	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140558390A>C	ENST00000239444.2	+	1	1020	c.775A>C	c.(775-777)Agc>Cgc	p.S259R	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	259	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTCCAATAAGCTTCCTGGT	0.453																																					p.S259R												.	.	0			c.A775C	5						.						208.0	277.0	254.0					5																	140558390		2203	4300	6503	140538574	SO:0001583	missense	56128	exon1			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.775A>C	5.37:g.140558390A>C	ENSP00000239444:p.Ser259Arg		140538574	NM_019120	B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	G	5.237	0.229284	0.09916	.	.	ENSG00000120322	ENST00000239444	T	0.61158	0.13	4.25	3.38	0.38709	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37210	0.0995	N	0.13043	0.29	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.28586	-1.0039	9	0.87932	D	0	.	4.9053	0.13795	0.1818:0.0:0.6497:0.1685	.	259	Q9UN66	PCDB8_HUMAN	R	259	ENSP00000239444:S259R	ENSP00000239444:S259R	S	+	1	0	PCDHB8	140538574	0.473000	0.25878	0.026000	0.17262	0.233000	0.25261	2.506000	0.45433	0.774000	0.33427	-0.221000	0.12465	AGC		0.453	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120	
PCDHB10	56126	broad.mit.edu	37	5	140572254	140572254	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140572254C>T	ENST00000239446.4	+	1	313	c.129C>T	c.(127-129)tcC>tcT	p.S43S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	43	Cadherin 1. {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)	p.S43S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAAGGATCCTTTGTGGTCA	0.498																																					p.S43S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C129T	5						.						52.0	57.0	55.0					5																	140572254		2171	4292	6463	140552438	SO:0001819	synonymous_variant	56126	exon1			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.129C>T	5.37:g.140572254C>T			140552438	NM_018930	Q96T99	Silent	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																				0.498	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PCDHB12	56124	broad.mit.edu	37	5	140589324	140589324	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140589324C>T	ENST00000239450.2	+	1	1034	c.845C>T	c.(844-846)tCc>tTc	p.S282F	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	282	Cadherin 3. {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)	p.S282F(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATACCTTTTCCCATGCCTCA	0.413																																					p.S282F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C845T	5						.						109.0	115.0	113.0					5																	140589324		2203	4300	6503	140569508	SO:0001583	missense	56124	exon1			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.845C>T	5.37:g.140589324C>T	ENSP00000239450:p.Ser282Phe		140569508	NM_018932	B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.761824	0.00651	.	.	ENSG00000120328	ENST00000239450	T	0.03181	4.02	3.91	2.7	0.31948	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02418	0.0074	N	0.25286	0.73	0.20196	N	0.999927	B	0.16603	0.018	B	0.25405	0.06	T	0.48115	-0.9063	9	0.02654	T	1	.	6.2285	0.20722	0.0:0.6669:0.1806:0.1524	.	282	Q9Y5F1	PCDBC_HUMAN	F	282	ENSP00000239450:S282F	ENSP00000239450:S282F	S	+	2	0	PCDHB12	140569508	0.000000	0.05858	0.970000	0.41538	0.666000	0.39218	-0.234000	0.09028	1.881000	0.54492	0.491000	0.48974	TCC		0.413	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
PCDHB13	56123	broad.mit.edu	37	5	140595315	140595315	+	Silent	SNP	G	G	A	rs563472510	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140595315G>A	ENST00000341948.4	+	1	1807	c.1620G>A	c.(1618-1620)gcG>gcA	p.A540A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	540	Cadherin 5. {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)	p.A540A(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCGCTGAGCAGCG	0.697																																					p.A540A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G1620A	5						.						43.0	50.0	47.0					5																	140595315		2203	4299	6502	140575499	SO:0001819	synonymous_variant	56123	exon1			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1620G>A	5.37:g.140595315G>A			140575499	NM_018933	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																				0.697	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHB13	56123	broad.mit.edu	37	5	140595819	140595819	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140595819C>T	ENST00000341948.4	+	1	2311	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	708					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)	p.F708F(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.677																																					p.F708F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2124T	5						.						91.0	99.0	97.0					5																	140595819		2201	4288	6489	140576003	SO:0001819	synonymous_variant	56123	exon1			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2124C>T	5.37:g.140595819C>T			140576003	NM_018933	A8K9V6	Silent	SNP	ENST00000341948.4	37	CCDS4255.1																																																																																				0.677	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
PCDHB14	56122	broad.mit.edu	37	5	140603650	140603650	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140603650C>T	ENST00000239449.4	+	1	573	c.573C>T	c.(571-573)taC>taT	p.Y191Y	PCDHB14_ENST00000515856.2_Silent_p.Y38Y	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	191	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)	p.Y191Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAAGATATACCCAGAGCTGG	0.443																																					p.Y191Y	Ovarian(141;50 1831 27899 33809 37648)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C573T	5						.						74.0	78.0	77.0					5																	140603650		2203	4300	6503	140583834	SO:0001819	synonymous_variant	56122	exon1			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.573C>T	5.37:g.140603650C>T			140583834	NM_018934	B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	CCDS4256.1																																																																																				0.443	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934	
PCDHB15	56121	broad.mit.edu	37	5	140626471	140626471	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140626471C>T	ENST00000231173.3	+	1	1325	c.1325C>T	c.(1324-1326)tCg>tTg	p.S442L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	442	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)	p.S442L(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGGTGTCGGACGTCAAT	0.592																																					p.S442L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1325T	5						.						118.0	111.0	113.0					5																	140626471		2203	4300	6503	140606655	SO:0001583	missense	56121	exon1			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1325C>T	5.37:g.140626471C>T	ENSP00000231173:p.Ser442Leu		140606655	NM_018935	Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.514506	0.44763	.	.	ENSG00000113248	ENST00000231173	T	0.01787	4.64	4.52	4.52	0.55395	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.04907	0.0132	M	0.87269	2.87	0.34248	D	0.678467	B	0.27791	0.189	B	0.27380	0.079	T	0.00875	-1.1531	9	0.72032	D	0.01	.	11.901	0.52685	0.0:0.913:0.0:0.087	.	442	Q9Y5E8	PCDBF_HUMAN	L	442	ENSP00000231173:S442L	ENSP00000231173:S442L	S	+	2	0	PCDHB15	140606655	0.002000	0.14202	0.369000	0.25952	0.038000	0.13279	1.339000	0.33885	2.251000	0.74343	0.485000	0.47835	TCG		0.592	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935	
PCDHGA1	56114	broad.mit.edu	37	5	140711804	140711804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140711804G>A	ENST00000517417.1	+	1	1553	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R518Q|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R518Q(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGCGCTGCGATCCTTCGAC	0.562																																					p.R518Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1553A	5						.						163.0	173.0	169.0					5																	140711804		2203	4300	6503	140691988	SO:0001583	missense	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1553G>A	5.37:g.140711804G>A	ENSP00000431083:p.Arg518Gln		140691988	NM_031993	Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	G	6.492	0.458876	0.12342	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52295	0.67;0.67	3.82	0.286	0.15710	Cadherin (5);Cadherin-like (1);	0.780131	0.10844	N	0.627918	T	0.26340	0.0643	N	0.13098	0.295	0.09310	N	0.999999	B;B	0.27166	0.17;0.102	B;B	0.21917	0.036;0.037	T	0.17258	-1.0375	10	0.26408	T	0.33	.	7.8544	0.29474	0.3412:0.0:0.6588:0.0	.	518;518	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	Q	518	ENSP00000431083:R518Q;ENSP00000367345:R518Q	ENSP00000367345:R518Q	R	+	2	0	PCDHGA1	140691988	0.000000	0.05858	0.008000	0.14137	0.119000	0.20118	0.864000	0.27926	-0.069000	0.12931	-0.259000	0.10710	CGA		0.562	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA1	56114	broad.mit.edu	37	5	140711898	140711898	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140711898C>T	ENST00000517417.1	+	1	1647	c.1647C>T	c.(1645-1647)agC>agT	p.S549S	PCDHGA1_ENST00000378105.3_Silent_p.S549S|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S549S(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTCTCAGCCTATTCCTGC	0.632																																					p.S549S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1647T	5						.						171.0	184.0	179.0					5																	140711898		2203	4300	6503	140692082	SO:0001819	synonymous_variant	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1647C>T	5.37:g.140711898C>T			140692082	NM_031993	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.632	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
PCDHGA2	56113	broad.mit.edu	37	5	140720978	140720978	+	Intron	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140720978A>G	ENST00000394576.2	+	1	2424				PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_5'Flank	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T814A(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATCTTTTCACAACATACGT	0.373																																					p.T814A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2440G	5						.						51.0	54.0	53.0					5																	140720978		2196	4299	6495	140701162	SO:0001627	intron_variant	56113	exon1			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2424+16A>G	5.37:g.140720978A>G			140701162	NM_032009	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	CCDS47289.1																																																																																				0.373	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
PCDHGB1	56104	broad.mit.edu	37	5	140730443	140730443	+	Missense_Mutation	SNP	C	C	T	rs374176829		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140730443C>T	ENST00000523390.1	+	1	616	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R206C(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTCTCATCGCTTAATCCT	0.493																																					p.R206C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C616T	5						.						72.0	70.0	71.0					5																	140730443		1886	4113	5999	140710627	SO:0001583	missense	56104	exon1			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.616C>T	5.37:g.140730443C>T	ENSP00000429273:p.Arg206Cys		140710627	NM_018922	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	8.751	0.921260	0.17982	.	.	ENSG00000254221	ENST00000523390	T	0.53640	0.61	5.18	4.18	0.49190	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45135	0.1327	M	0.64567	1.98	0.09310	N	1	B;B	0.19445	0.036;0.036	B;B	0.18561	0.021;0.022	T	0.38134	-0.9675	9	0.66056	D	0.02	.	9.3581	0.38179	0.1751:0.6076:0.2172:0.0	.	206;206	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	C	206	ENSP00000429273:R206C	ENSP00000429273:R206C	R	+	1	0	PCDHGB1	140710627	0.000000	0.05858	0.137000	0.22149	0.708000	0.40852	-3.065000	0.00621	2.563000	0.86464	0.563000	0.77884	CGC		0.493	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
PCDHGA4	56111	broad.mit.edu	37	5	140735654	140735654	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140735654C>A	ENST00000571252.1	+	1	887	c.887C>A	c.(886-888)tCt>tAt	p.S296Y	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTGAATTCTCTGAGTGGG	0.443																																					p.S296Y												.	.	0			c.C887A	5						.						48.0	49.0	49.0					5																	140735654		1852	4099	5951	140715838	SO:0001583	missense	56111	exon1			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.887C>A	5.37:g.140735654C>A	ENSP00000458570:p.Ser296Tyr		140715838	NM_018917	Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	CCDS58979.1																																																																																				0.443	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917	
PCDHGA5	56110	broad.mit.edu	37	5	140744763	140744763	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140744763C>T	ENST00000518069.1	+	1	866	c.866C>T	c.(865-867)tCg>tTg	p.S289L	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S289L(4)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAAATTTCGGAGACTTTC	0.463																																					p.S289L												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C866T	5						.						34.0	35.0	34.0					5																	140744763		1865	4107	5972	140724947	SO:0001583	missense	56110	exon1			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.866C>T	5.37:g.140744763C>T	ENSP00000429834:p.Ser289Leu		140724947	NM_032054	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	5.229	0.227704	0.09916	.	.	ENSG00000253485	ENST00000518069	T	0.03094	4.05	5.52	3.6	0.41247	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03136	0.0092	N	0.25957	0.775	0.09310	N	1	B;B	0.20671	0.012;0.047	B;B	0.20767	0.013;0.031	T	0.42949	-0.9421	9	0.27785	T	0.31	.	7.1449	0.25577	0.0:0.5795:0.2838:0.1367	.	289;289	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	L	289	ENSP00000429834:S289L	ENSP00000429834:S289L	S	+	2	0	PCDHGA5	140724947	0.000000	0.05858	0.789000	0.31954	0.857000	0.48899	-0.804000	0.04535	1.437000	0.47472	0.563000	0.77884	TCG		0.463	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918	
PCDHGB3	56102	broad.mit.edu	37	5	140750343	140750343	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140750343G>A	ENST00000576222.1	+	1	513	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATTAACGACAACCCACC	0.448																																					p.D128N												.	.	0			c.G382A	5						.						121.0	121.0	121.0					5																	140750343		1912	4127	6039	140730527	SO:0001583	missense	56102	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.382G>A	5.37:g.140750343G>A	ENSP00000461862:p.Asp128Asn		140730527	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.448	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGA7	56108	broad.mit.edu	37	5	140763268	140763268	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140763268G>A	ENST00000518325.1	+	1	802	c.802G>A	c.(802-804)Gac>Aac	p.D268N	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D268N(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATGCTATCGACCTGGACGA	0.468																																					p.D268N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G802A	5						.						50.0	50.0	50.0					5																	140763268		1989	4160	6149	140743452	SO:0001583	missense	56108	exon1			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.802G>A	5.37:g.140763268G>A	ENSP00000430024:p.Asp268Asn		140743452	NM_032087	B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.690970	0.88735	.	.	ENSG00000253537	ENST00000518325	T	0.61627	0.09	5.3	5.3	0.74995	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.87920	0.6299	H	0.99697	4.71	0.43476	D	0.99569	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.995	D	0.93361	0.6727	9	0.87932	D	0	.	19.3243	0.94254	0.0:0.0:1.0:0.0	.	268;268	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	N	268	ENSP00000430024:D268N	ENSP00000430024:D268N	D	+	1	0	PCDHGA7	140743452	1.000000	0.71417	0.946000	0.38457	0.965000	0.64279	9.869000	0.99810	2.627000	0.88993	0.655000	0.94253	GAC		0.468	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
PCDHGA8	9708	broad.mit.edu	37	5	140773411	140773411	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140773411G>A	ENST00000398604.2	+	1	1031	c.1031G>A	c.(1030-1032)aGa>aAa	p.R344K	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	344	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGACAATAGACCAGAAGTG	0.428																																					p.R344K												.	.	0			c.G1031A	5						.						131.0	132.0	132.0					5																	140773411		1859	4111	5970	140753595	SO:0001583	missense	9708	exon1			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1031G>A	5.37:g.140773411G>A	ENSP00000381605:p.Arg344Lys		140753595	NM_032088	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	12.16	1.856012	0.32791	.	.	ENSG00000253767	ENST00000398604	T	0.58940	0.3	5.41	3.58	0.41010	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	265.100000	0.03114	U	0.162933	T	0.46464	0.1394	N	0.26042	0.785	0.20196	N	0.999928	B;B	0.29253	0.239;0.023	B;B	0.25987	0.065;0.022	T	0.39683	-0.9602	10	0.52906	T	0.07	.	6.2484	0.20832	0.1942:0.3275:0.4784:0.0	.	344;344	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	K	344	ENSP00000381605:R344K	ENSP00000381605:R344K	R	+	2	0	PCDHGA8	140753595	0.000000	0.05858	0.990000	0.47175	0.866000	0.49608	-0.290000	0.08354	1.297000	0.44761	0.655000	0.94253	AGA		0.428	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
PCDHGB3	56102	broad.mit.edu	37	5	140778959	140778959	+	Intron	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140778959A>G	ENST00000576222.1	+	1	2546				PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCCACAGACAGGGGCAAG	0.498																																					p.D422G												.	.	0			c.A1265G	5						.						46.0	54.0	51.0					5																	140778959		2034	4187	6221	140759143	SO:0001627	intron_variant	56101	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26583A>G	5.37:g.140778959A>G			140759143	NM_032099	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.498	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGB3	56102	broad.mit.edu	37	5	140779648	140779648	+	Intron	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140779648G>A	ENST00000576222.1	+	1	2546				PCDHGA9_ENST00000573521.1_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACTCTCCGCCACCGCCAC	0.672																																					p.A652T												.	.	0			c.G1954A	5						.						73.0	79.0	77.0					5																	140779648		2162	4262	6424	140759832	SO:0001627	intron_variant	56101	exon1			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27272G>A	5.37:g.140779648G>A			140759832	NM_032099	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.672	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
PCDHGB6	56100	broad.mit.edu	37	5	140788424	140788424	+	Missense_Mutation	SNP	G	G	A	rs372861749		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140788424G>A	ENST00000520790.1	+	1	655	c.655G>A	c.(655-657)Gac>Aac	p.D219N	PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	219	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGGAGGGGACCCACCAAG	0.468																																					p.D219N												.	.	0			c.G655A	5						.						33.0	34.0	34.0					5																	140788424		1867	4110	5977	140768608	SO:0001583	missense	56100	exon1			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.655G>A	5.37:g.140788424G>A	ENSP00000428603:p.Asp219Asn		140768608	NM_018926	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	9.208	1.030234	0.19512	.	.	ENSG00000253305	ENST00000520790	T	0.51325	0.71	5.34	4.44	0.53790	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32585	0.0834	N	0.11000	0.08	0.21105	N	0.999781	B;B	0.21071	0.051;0.041	B;B	0.33799	0.17;0.106	T	0.33624	-0.9861	9	0.34782	T	0.22	.	9.372	0.38258	0.1708:0.0:0.8292:0.0	.	219;219	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	N	219	ENSP00000428603:D219N	ENSP00000428603:D219N	D	+	1	0	PCDHGB6	140768608	0.000000	0.05858	0.855000	0.33649	0.823000	0.46562	-0.061000	0.11693	1.187000	0.43000	0.467000	0.42956	GAC		0.468	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
PCDHGB6	56100	broad.mit.edu	37	5	140788883	140788883	+	Missense_Mutation	SNP	C	C	T	rs114361948	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140788883C>T	ENST00000520790.1	+	1	1114	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R372W(2)|p.R372R(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAAAACACGGGATCTGGA	0.393													.|||	3	0.000599042	0.0023	0.0	5008	,	,		20460	0.0		0.0	False		,,,				2504	0.0				p.R372W												.	.	3	Substitution - Missense(2)|Substitution - coding silent(1)	large_intestine(1)|lung(1)|endometrium(1)	c.C1114T	5						.	C	,,,,,,,,,,,,,TRP/ARG,,TRP/ARG	2,3700		0,2,1849	55.0	54.0	54.0		,,,,,,,,,,,,,1114,,1114	2.3	1.0	5	dbSNP_132	54	0,8220		0,0,4110	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_032088.1,NM_032100.1	,,,,,,,,,,,,,101,,101	0,2,5959	TT,TC,CC		0.0,0.054,0.0168	,,,,,,,,,,,,,,,	,,,,,,,,,,,,,372/931,,372/821	140788883	2,11920	1851	4110	5961	140769067	SO:0001583	missense	56100	exon1			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1114C>T	5.37:g.140788883C>T	ENSP00000428603:p.Arg372Trp		140769067	NM_018926	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	14.41	2.527000	0.44969	5.4E-4	0.0	ENSG00000253305	ENST00000520790	T	0.52983	0.64	5.37	2.34	0.29019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.63200	0.2491	M	0.83012	2.62	0.09310	N	1	D;D	0.69078	0.997;0.996	P;P	0.62491	0.903;0.843	T	0.50841	-0.8780	9	0.62326	D	0.03	.	5.7637	0.18215	0.2507:0.5609:0.1162:0.0722	.	372;372	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	W	372	ENSP00000428603:R372W	ENSP00000428603:R372W	R	+	1	2	PCDHGB6	140769067	0.000000	0.05858	0.997000	0.53966	0.937000	0.57800	-1.856000	0.01662	1.189000	0.43028	0.563000	0.77884	CGG		0.393	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
PCDHGB7	56099	broad.mit.edu	37	5	140797692	140797692	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140797692G>A	ENST00000398594.2	+	1	266	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R89Q(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAAGGACCGAATAGACCGT	0.493																																					p.R89Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G266A	5						.						160.0	169.0	166.0					5																	140797692		1941	4140	6081	140777876	SO:0001583	missense	56099	exon1			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.266G>A	5.37:g.140797692G>A	ENSP00000381594:p.Arg89Gln		140777876	NM_032101	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	34	5.335016	0.95758	.	.	ENSG00000254122	ENST00000398594	T	0.34859	1.34	5.92	5.92	0.95590	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.29225	U	0.012770	T	0.67135	0.2861	M	0.84433	2.695	0.35978	D	0.835833	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.979	T	0.75158	-0.3416	10	0.87932	D	0	.	19.9447	0.97177	0.0:0.0:1.0:0.0	.	89;89	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	Q	89	ENSP00000381594:R89Q	ENSP00000381594:R89Q	R	+	2	0	PCDHGB7	140777876	0.912000	0.30974	1.000000	0.80357	0.975000	0.68041	4.750000	0.62162	2.822000	0.97130	0.650000	0.86243	CGA		0.493	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
PCDHGB7	56099	broad.mit.edu	37	5	140799416	140799416	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140799416T>C	ENST00000398594.2	+	1	1990	c.1990T>C	c.(1990-1992)Ttc>Ctc	p.F664L	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F664L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTGGTGTTCGCAGATAG	0.592																																					p.F664L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1990C	5						.						80.0	86.0	84.0					5																	140799416		2203	4295	6498	140779600	SO:0001583	missense	56099	exon1			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1990T>C	5.37:g.140799416T>C	ENSP00000381594:p.Phe664Leu		140779600	NM_032101	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	t	11.25	1.582044	0.28180	.	.	ENSG00000254122	ENST00000398594	T	0.33865	1.39	5.77	5.77	0.91146	Cadherin (3);Cadherin-like (1);	0.000000	0.33772	U	0.004568	T	0.27169	0.0666	N	0.11870	0.19	0.25641	N	0.986207	P;P	0.42941	0.736;0.794	B;P	0.46659	0.282;0.523	T	0.15321	-1.0441	10	0.24483	T	0.36	.	12.038	0.53435	0.0:0.0:0.2533:0.7467	.	664;664	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	L	664	ENSP00000381594:F664L	ENSP00000381594:F664L	F	+	1	0	PCDHGB7	140779600	0.000000	0.05858	0.566000	0.28421	0.436000	0.31835	-0.241000	0.08940	2.200000	0.70718	0.459000	0.35465	TTC		0.592	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927	
PCDHGA11	56105	broad.mit.edu	37	5	140802139	140802139	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140802139A>G	ENST00000398587.2	+	1	1378	c.1345A>G	c.(1345-1347)Aac>Gac	p.N449D	PCDHGA11_ENST00000518882.1_Missense_Mutation_p.N449D|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	449	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N449D(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAACGATAACCCTCCCGT	0.542																																					p.N449D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1345G	5						.						127.0	135.0	132.0					5																	140802139		2076	4228	6304	140782323	SO:0001583	missense	56105	exon1			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1345A>G	5.37:g.140802139A>G	ENSP00000381589:p.Asn449Asp		140782323	NM_018914	B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	a	18.63	3.664456	0.67700	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.65364	-0.15;-0.15	6.17	6.17	0.99709	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.30185	U	0.010215	D	0.89504	0.6734	H	0.99825	4.815	0.37678	D	0.923371	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95333	0.8431	10	0.87932	D	0	.	16.4957	0.84242	1.0:0.0:0.0:0.0	.	449;449;449	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	D	449	ENSP00000381589:N449D;ENSP00000428333:N449D	ENSP00000381589:N449D	N	+	1	0	PCDHGA11	140782323	1.000000	0.71417	0.999000	0.59377	0.613000	0.37349	7.098000	0.76974	2.371000	0.80710	0.533000	0.62120	AAC		0.542	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914	
PCDHGC4	56098	broad.mit.edu	37	5	140866889	140866889	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140866889C>T	ENST00000306593.1	+	1	2149	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R717C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGTGTCTTCGTGGGGCAGC	0.547																																					p.R717C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2149T	5						.						105.0	83.0	90.0					5																	140866889		2203	4300	6503	140847073	SO:0001583	missense	56098	exon1			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.2149C>T	5.37:g.140866889C>T	ENSP00000306918:p.Arg717Cys		140847073	NM_032406	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300120	0.40694	.	.	ENSG00000242419	ENST00000306593	T	0.56103	0.48	5.45	5.45	0.79879	.	.	.	.	.	T	0.69824	0.3154	M	0.64630	1.985	0.37946	D	0.932499	D;D	0.89917	1.0;1.0	D;D	0.73380	0.978;0.98	T	0.75241	-0.3387	9	0.87932	D	0	.	16.0087	0.80380	0.0:1.0:0.0:0.0	.	717;717	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	C	717	ENSP00000306918:R717C	ENSP00000306918:R717C	R	+	1	0	PCDHGC4	140847073	0.865000	0.29922	0.977000	0.42913	0.880000	0.50808	1.467000	0.35321	2.550000	0.86006	0.585000	0.79938	CGT		0.547	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
PCDHGC4	56098	broad.mit.edu	37	5	140867081	140867081	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:140867081C>T	ENST00000306593.1	+	1	2341	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W	PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	781					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACCCACTCGGAGTGATAG	0.552																																					p.R781W												.	.	0			c.C2341T	5						.						81.0	71.0	75.0					5																	140867081		2203	4300	6503	140847265	SO:0001583	missense	56098	exon1			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.2341C>T	5.37:g.140867081C>T	ENSP00000306918:p.Arg781Trp		140847265	NM_032406	Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222785	0.58668	.	.	ENSG00000242419	ENST00000306593	T	0.49432	0.78	5.43	5.43	0.79202	.	.	.	.	.	T	0.66479	0.2793	M	0.70275	2.135	0.29382	N	0.863228	D;D	0.76494	0.999;0.999	P;D	0.63877	0.898;0.919	T	0.64993	-0.6276	9	0.66056	D	0.02	.	15.2615	0.73628	0.0:0.8591:0.1409:0.0	.	781;781	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	W	781	ENSP00000306918:R781W	ENSP00000306918:R781W	R	+	1	2	PCDHGC4	140847265	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.295000	0.51794	2.540000	0.85666	0.484000	0.47621	CGG		0.552	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928	
FCHSD1	89848	broad.mit.edu	37	5	141024437	141024437	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:141024437C>T	ENST00000435817.2	-	15	1563	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.E431K|FCHSD1_ENST00000522126.1_3'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	505	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.							p.E505K(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACCCATTCGTCAGCATCT	0.592																																					p.E505K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1513A	5						.						50.0	58.0	55.0					5																	141024437		2085	4217	6302	141004621	SO:0001583	missense	89848	exon15			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1513G>A	5.37:g.141024437C>T	ENSP00000399259:p.Glu505Lys		141004621	NM_033449	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161071	0.94727	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000518499	T;T;T	0.49432	0.78;0.78;0.78	5.54	5.54	0.83059	Src homology-3 domain (4);	0.063176	0.64402	D	0.000012	T	0.63295	0.2499	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.965	T	0.62177	-0.6909	10	0.51188	T	0.08	-16.7022	19.0711	0.93136	0.0:1.0:0.0:0.0	.	185;505	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	K	505;431;188	ENSP00000399259:E505K;ENSP00000428677:E431K;ENSP00000430448:E188K	ENSP00000399259:E505K	E	-	1	0	FCHSD1	141004621	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	6.955000	0.76007	2.618000	0.88619	0.462000	0.41574	GAA		0.592	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449	
ARAP3	64411	broad.mit.edu	37	5	141050150	141050150	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:141050150T>C	ENST00000239440.4	-	14	2101	c.2036A>G	c.(2035-2037)tAc>tGc	p.Y679C	ARAP3_ENST00000508305.1_Missense_Mutation_p.Y581C|ARAP3_ENST00000513878.1_Missense_Mutation_p.Y341C	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	679					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.Y679C(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GAAGCCGCTGTAAGTAGCACG	0.602																																					p.Y679C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2036G	5						.						88.0	76.0	80.0					5																	141050150		2203	4300	6503	141030334	SO:0001583	missense	64411	exon14			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2036A>G	5.37:g.141050150T>C	ENSP00000239440:p.Tyr679Cys		141030334	NM_022481	B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282888	0.23392	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.11604	2.76;2.76;2.76	5.11	2.26	0.28386	Pleckstrin homology domain (1);	0.128612	0.52532	D	0.000078	T	0.08313	0.0207	L	0.40543	1.245	0.36686	D	0.87929	B;B;B	0.11235	0.002;0.001;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.14282	-1.0478	10	0.41790	T	0.15	.	6.337	0.21302	0.1518:0.0889:0.0:0.7593	.	341;581;679	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	C	581;679;341	ENSP00000421826:Y581C;ENSP00000239440:Y679C;ENSP00000421468:Y341C	ENSP00000239440:Y679C	Y	-	2	0	ARAP3	141030334	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	1.758000	0.38410	0.757000	0.33036	0.379000	0.24179	TAC		0.602	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	
RNF14	9604	broad.mit.edu	37	5	141362946	141362946	+	Splice_Site	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:141362946G>T	ENST00000394520.2	+	7	1374	c.1065G>T	c.(1063-1065)gaG>gaT	p.E355D	RNF14_ENST00000347642.3_Splice_Site_p.E355D|RNF14_ENST00000394515.3_Splice_Site_p.E179D|RNF14_ENST00000356143.1_Splice_Site_p.E355D|RNF14_ENST00000540015.1_Splice_Site_p.E52D|RNF14_ENST00000394519.1_Splice_Site_p.E355D|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_Splice_Site_p.E229D	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	355					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E355D(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ACTTTGTAGAGAAATTAATGG	0.318																																					p.E355D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1065T	5						.						42.0	43.0	43.0					5																	141362946		2203	4300	6503	141343130	SO:0001630	splice_region_variant	9604	exon7			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1064-1G>T	5.37:g.141362946G>T			141343130	NM_183401	A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	ENST00000394520.2	37	CCDS4270.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967423	0.34754	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000394514;ENST00000512565;ENST00000394515;ENST00000394519	T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;0.99;-0.16;0.99;-0.16;-0.16	6.01	1.8	0.24995	.	0.094699	0.64402	D	0.000001	T	0.47619	0.1455	N	0.26130	0.795	0.45822	D	0.998699	B;B;B	0.27679	0.185;0.093;0.006	B;B;B	0.31751	0.135;0.028;0.009	T	0.34453	-0.9828	10	0.35671	T	0.21	.	10.7805	0.46376	0.3425:0.0:0.6575:0.0	.	52;179;355	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	D	355;355;355;52;229;52;179;355	ENSP00000348462:E355D;ENSP00000378028:E355D;ENSP00000324956:E355D;ENSP00000442490:E52D;ENSP00000378022:E229D;ENSP00000426832:E52D;ENSP00000378023:E179D;ENSP00000378027:E355D	ENSP00000324956:E355D	E	+	3	2	RNF14	141343130	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	0.401000	0.20948	0.453000	0.26858	-0.766000	0.03442	GAG		0.318	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251860.2	NM_004290	Missense_Mutation
FGF1	2246	broad.mit.edu	37	5	141975025	141975025	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:141975025A>G	ENST00000359370.6	-	4	377	c.298T>C	c.(298-300)Ttc>Ctc	p.F100L	FGF1_ENST00000419524.2_Missense_Mutation_p.F100L|FGF1_ENST00000378046.1_Missense_Mutation_p.F100L|FGF1_ENST00000337706.2_Missense_Mutation_p.F100L|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000360966.5_3'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000494579.1_5'UTR	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	100					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)	p.F100L(1)		large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	CTTTCCAGGAACAAACATTCC	0.428																																					p.F100L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T298C	5						.						109.0	102.0	104.0					5																	141975025		2203	4300	6503	141955209	SO:0001583	missense	2246	exon4			X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"""Endogenous ligands"""	3665	protein-coding gene	gene with protein product	"""heparin-binding growth factor 1"", ""endothelial cell growth factor, alpha"", ""endothelial cell growth factor, beta"""	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.298T>C	5.37:g.141975025A>G	ENSP00000352329:p.Phe100Leu		141955209	NM_000800	B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	ENST00000359370.6	37	CCDS4275.1	.	.	.	.	.	.	.	.	.	.	A	33	5.235590	0.95240	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.87	5.87	0.94306	.	0.064498	0.64402	D	0.000004	T	0.70116	0.3187	M	0.84219	2.685	0.80722	D	1	B;P	0.50272	0.166;0.933	B;P	0.49047	0.099;0.599	T	0.76255	-0.3026	10	0.87932	D	0	.	16.2718	0.82624	1.0:0.0:0.0:0.0	.	99;100	A8K147;P05230	.;FGF1_HUMAN	L	100	ENSP00000352329:F100L;ENSP00000367285:F100L;ENSP00000338548:F100L;ENSP00000404742:F100L;ENSP00000396195:F100L	ENSP00000338548:F100L	F	-	1	0	FGF1	141955209	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	8.782000	0.91809	2.239000	0.73571	0.528000	0.53228	TTC		0.428	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132735.2	NM_000800	
ARHGAP26	23092	broad.mit.edu	37	5	142393656	142393656	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:142393656G>A	ENST00000274498.4	+	12	1497	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S	ARHGAP26_ENST00000378004.3_Silent_p.S373S	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	373					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.S373S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTACAACTCGAACAAAGACA	0.428																																					p.S373S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1119A	5						.						138.0	126.0	130.0					5																	142393656		2203	4300	6503	142373849	SO:0001819	synonymous_variant	23092	exon12			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1119G>A	5.37:g.142393656G>A			142373849	NM_015071	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Silent	SNP	ENST00000274498.4	37	CCDS4277.1																																																																																				0.428	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071	
NR3C1	2908	broad.mit.edu	37	5	142779740	142779740	+	Missense_Mutation	SNP	T	T	G	rs140309412		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:142779740T>G	ENST00000343796.2	-	2	1658	c.665A>C	c.(664-666)aAc>aCc	p.N222T	NR3C1_ENST00000503201.1_Missense_Mutation_p.N222T|NR3C1_ENST00000415690.2_Missense_Mutation_p.N222T|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394466.2_Missense_Mutation_p.N222T|NR3C1_ENST00000424646.2_Missense_Mutation_p.N222T|NR3C1_ENST00000231509.3_Missense_Mutation_p.N222T|NR3C1_ENST00000504572.1_Missense_Mutation_p.N222T|NR3C1_ENST00000394464.2_Missense_Mutation_p.N222T	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	222	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.N222T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	AAGCAAACAGTTTTCATCTAT	0.458																																					p.N222T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A665C	5						.						68.0	73.0	71.0					5																	142779740		2203	4300	6503	142759933	SO:0001583	missense	2908	exon2			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.665A>C	5.37:g.142779740T>G	ENSP00000343205:p.Asn222Thr		142759933	NM_001018074	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088844	0.36855	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.46	1.8	0.24995	.	0.785442	0.12587	N	0.455889	T	0.30572	0.0769	L	0.59436	1.845	0.80722	D	1	B;B;B	0.25169	0.119;0.042;0.119	B;B;B	0.31442	0.13;0.055;0.13	T	0.12502	-1.0545	10	0.62326	D	0.03	.	6.8714	0.24123	0.0:0.4762:0.0:0.5238	.	222;222;222	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	T	222	ENSP00000377977:N222T;ENSP00000343205:N222T;ENSP00000387672:N222T;ENSP00000405282:N222T;ENSP00000422518:N222T;ENSP00000377979:N222T;ENSP00000231509:N222T;ENSP00000427672:N222T	ENSP00000231509:N222T	N	-	2	0	NR3C1	142759933	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	1.969000	0.40510	0.368000	0.24481	0.528000	0.53228	AAC		0.458	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
NR3C1	2908	broad.mit.edu	37	5	142779904	142779904	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:142779904C>T	ENST00000343796.2	-	2	1494	c.501G>A	c.(499-501)caG>caA	p.Q167Q	NR3C1_ENST00000503201.1_Silent_p.Q167Q|NR3C1_ENST00000415690.2_Silent_p.Q167Q|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394466.2_Silent_p.Q167Q|NR3C1_ENST00000424646.2_Silent_p.Q167Q|NR3C1_ENST00000231509.3_Silent_p.Q167Q|NR3C1_ENST00000504572.1_Silent_p.Q167Q|NR3C1_ENST00000394464.2_Silent_p.Q167Q	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	167	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.Q167Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TCAAATGTTGCTGTTCTGAAG	0.468																																					p.Q167Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G501A	5						.						77.0	76.0	76.0					5																	142779904		2203	4300	6503	142760097	SO:0001819	synonymous_variant	2908	exon2			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.501G>A	5.37:g.142779904C>T			142760097	NM_001018074	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																				0.468	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
NR3C1	2908	broad.mit.edu	37	5	142780402	142780402	+	Start_Codon_SNP	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:142780402C>A	ENST00000343796.2	-	2	996	c.3G>T	c.(1-3)atG>atT	p.M1I	NR3C1_ENST00000503201.1_Start_Codon_SNP_p.M1I|NR3C1_ENST00000415690.2_Start_Codon_SNP_p.M1I|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000394466.2_Start_Codon_SNP_p.M1I|NR3C1_ENST00000424646.2_Start_Codon_SNP_p.M1I|NR3C1_ENST00000231509.3_Start_Codon_SNP_p.M1I|NR3C1_ENST00000504572.1_Start_Codon_SNP_p.M1I|NR3C1_ENST00000394464.2_Start_Codon_SNP_p.M1I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	1	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.M1I(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	CTTTGGAGTCCATCAGTGAAT	0.413																																					p.M1I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3T	5						.						36.0	37.0	36.0					5																	142780402		2203	4300	6503	142760595	SO:0001582	initiator_codon_variant	2908	exon2			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.3G>T	5.37:g.142780402C>A	ENSP00000343205:p.Met1Ile		142760595	NM_001018074	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963446	0.74016	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201;ENST00000510170;ENST00000508760;ENST00000502892;ENST00000514699;ENST00000502500	D;D;D;D;D;D;D;D;T;T;T;T;T	0.85013	-1.62;-1.62;-1.59;-1.93;-1.62;-1.62;-1.62;-1.62;1.93;1.93;1.93;1.93;1.93	5.49	5.49	0.81192	.	3.385500	0.00725	N	0.000914	D	0.93446	0.7909	.	.	.	0.80722	D	1	P;P;P	0.50528	0.936;0.936;0.936	P;P;P	0.61201	0.885;0.885;0.885	T	0.81272	-0.1008	9	0.72032	D	0.01	.	19.3553	0.94410	0.0:1.0:0.0:0.0	.	1;1;1	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	I	1	ENSP00000377977:M1I;ENSP00000343205:M1I;ENSP00000387672:M1I;ENSP00000405282:M1I;ENSP00000422518:M1I;ENSP00000377979:M1I;ENSP00000231509:M1I;ENSP00000427672:M1I;ENSP00000424747:M1I;ENSP00000425313:M1I;ENSP00000420856:M1I;ENSP00000426478:M1I;ENSP00000425374:M1I	ENSP00000231509:M1I	M	-	3	0	NR3C1	142760595	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.066000	0.57520	2.583000	0.87209	0.655000	0.94253	ATG		0.413	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		Missense_Mutation
GRXCR2	643226	broad.mit.edu	37	5	145246231	145246231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:145246231G>A	ENST00000377976.1	-	2	396	c.397C>T	c.(397-399)Cga>Tga	p.R133*		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	133						cell projection (GO:0042995)		p.R133*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ATTGGGGTTCGAATGATTTTC	0.398																																					p.R133X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C397T	5						.						111.0	112.0	112.0					5																	145246231		2203	4300	6503	145226424	SO:0001587	stop_gained	643226	exon2				CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.397C>T	5.37:g.145246231G>A	ENSP00000367214:p.Arg133*		145226424	NM_001080516		Nonsense_Mutation	SNP	ENST00000377976.1	37	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	G	35	5.428950	0.96131	.	.	ENSG00000204928	ENST00000377976	.	.	.	5.42	5.42	0.78866	.	0.065298	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.0138	19.2175	0.93783	0.0:0.0:1.0:0.0	.	.	.	.	X	133	.	ENSP00000367214:R133X	R	-	1	2	GRXCR2	145226424	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.711000	0.61881	2.536000	0.85505	0.455000	0.32223	CGA		0.398	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2		
TRIO	7204	broad.mit.edu	37	5	14508111	14508111	+	Silent	SNP	C	C	T	rs572269818		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:14508111C>T	ENST00000344204.4	+	57	8898	c.8874C>T	c.(8872-8874)ttC>ttT	p.F2958F	TRIO_ENST00000537187.1_Silent_p.F2782F|TRIO_ENST00000344135.5_Silent_p.F457F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2958	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F2958F(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCCTGAATTCGCAGCCCCTG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20646	0.0		0.0	False		,,,				2504	0.001				p.F2958F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C8874T	5						.						115.0	108.0	110.0					5																	14508111		2203	4300	6503	14561111	SO:0001819	synonymous_variant	7204	exon57			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8874C>T	5.37:g.14508111C>T			14561111	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																				0.527	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
LARS	51520	broad.mit.edu	37	5	145503552	145503552	+	Missense_Mutation	SNP	G	G	A	rs367974584		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:145503552G>A	ENST00000394434.2	-	29	3255	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L	LARS_ENST00000510191.1_Missense_Mutation_p.S976L|LARS_ENST00000545646.1_Missense_Mutation_p.S984L|LARS_ENST00000274562.9_Missense_Mutation_p.S1003L	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1030					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.S1030L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TACCTCAAGCGAATTAGTCAG	0.343																																					p.S1030L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3089T	5						.	G	LEU/SER	0,4406		0,0,2203	87.0	85.0	85.0		3089	5.1	1.0	5		85	1,8597	1.2+/-3.3	0,1,4298	no	missense	LARS	NM_020117.9	145	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	1030/1177	145503552	1,13003	2203	4299	6502	145483745	SO:0001583	missense	51520	exon29			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3089C>T	5.37:g.145503552G>A	ENSP00000377954:p.Ser1030Leu		145483745	NM_020117	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138699	0.77775	0.0	1.16E-4	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.64803	-0.12;-0.11;-0.12;-0.12	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	M	0.83012	2.62	0.80722	D	1	B;D;B	0.67145	0.091;0.996;0.241	B;P;B	0.53689	0.025;0.732;0.048	T	0.75838	-0.3176	10	0.31617	T	0.26	.	18.9369	0.92589	0.0:0.0:1.0:0.0	.	1003;984;1030	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	L	1030;984;339;976;1003	ENSP00000377954:S1030L;ENSP00000437791:S984L;ENSP00000426005:S976L;ENSP00000274562:S1003L	ENSP00000274562:S1003L	S	-	2	0	LARS	145483745	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.450000	0.97607	2.527000	0.85204	0.557000	0.71058	TCG		0.343	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1	NM_020117	
POU4F3	5459	broad.mit.edu	37	5	145719917	145719917	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:145719917G>T	ENST00000230732.4	+	2	1016	c.927G>T	c.(925-927)gaG>gaT	p.E309D	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	309					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E309D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATCGCTGAGAAACTGGACC	0.537																																					p.E309D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G927T	5						.						60.0	58.0	59.0					5																	145719917		2203	4300	6503	145700110	SO:0001583	missense	5459	exon2			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.927G>T	5.37:g.145719917G>T	ENSP00000230732:p.Glu309Asp		145700110	NM_002700	O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302059	0.40694	.	.	ENSG00000091010	ENST00000230732	D	0.96300	-3.97	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	N	0.25789	0.76	0.80722	D	1	P	0.44659	0.84	P	0.50754	0.649	D	0.94152	0.7406	10	0.34782	T	0.22	.	16.3979	0.83621	0.0:0.0:1.0:0.0	.	309	Q15319	PO4F3_HUMAN	D	309	ENSP00000230732:E309D	ENSP00000230732:E309D	E	+	3	2	POU4F3	145700110	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.245000	0.51407	2.372000	0.80975	0.462000	0.41574	GAG		0.537	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700	
SPINK14	408187	broad.mit.edu	37	5	147549306	147549306	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:147549306C>A	ENST00000356972.1	+	1	11	c.11C>A	c.(10-12)tCt>tAt	p.S4Y	SPINK14_ENST00000562793.1_Missense_Mutation_p.S4Y	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	4						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S4Y(1)		breast(1)|large_intestine(1)|lung(1)	3						ATGGCCAAATCTTTCCCAGTA	0.388																																					p.S4Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11A	5						.						217.0	196.0	203.0					5																	147549306		2203	4300	6503	147529499	SO:0001583	missense	408187	exon1				CCDS4288.1	5q32	2011-08-31			ENSG00000196800	ENSG00000196800		"""Serine peptidase inhibitors, Kazal type"""	33825	protein-coding gene	gene with protein product							Standard	NM_001001325		Approved	SPINK5L2	uc031sls.1	Q6IE38	OTTHUMG00000129732	ENST00000356972.1:c.11C>A	5.37:g.147549306C>A	ENSP00000349459:p.Ser4Tyr		147529499	NM_001001325		Missense_Mutation	SNP	ENST00000356972.1	37	CCDS4288.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.468112	0.00169	.	.	ENSG00000196800	ENST00000356972	D	0.86030	-2.06	3.58	-7.16	0.01516	.	2.307170	0.01892	N	0.038608	T	0.62270	0.2414	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63717	-0.6574	9	0.05436	T	0.98	-0.0557	5.2152	0.15338	0.5512:0.1114:0.2585:0.0789	.	4	Q6IE38	ISK14_HUMAN	Y	4	ENSP00000349459:S4Y	ENSP00000349459:S4Y	S	+	2	0	SPINK14	147529499	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.326000	0.01114	-2.927000	0.00302	-1.263000	0.01449	TCT		0.388	SPINK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251943.2	NM_001001325	
FBXO38	81545	broad.mit.edu	37	5	147795518	147795518	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:147795518A>G	ENST00000340253.5	+	11	1460	c.1292A>G	c.(1291-1293)gAt>gGt	p.D431G	FBXO38_ENST00000513826.1_Missense_Mutation_p.D431G|FBXO38_ENST00000296701.6_Missense_Mutation_p.D431G|FBXO38_ENST00000394370.3_Missense_Mutation_p.D431G			Q6PIJ6	FBX38_HUMAN	F-box protein 38	431					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D431G(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATTGGTTGATATCAACCTA	0.383																																					p.D431G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1292G	5						.						127.0	123.0	124.0					5																	147795518		2203	4300	6503	147775711	SO:0001583	missense	81545	exon11			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1292A>G	5.37:g.147795518A>G	ENSP00000342023:p.Asp431Gly		147775711	NM_205836	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	A	24.8	4.567450	0.86439	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.17054	2.3;5.51;2.3;5.51	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.32255	0.0823	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.87578	0.941;0.962;0.998	T	0.03221	-1.1059	10	0.66056	D	0.02	-21.5307	15.1515	0.72703	1.0:0.0:0.0:0.0	.	431;431;431	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	G	431	ENSP00000342023:D431G;ENSP00000296701:D431G;ENSP00000377895:D431G;ENSP00000426410:D431G	ENSP00000296701:D431G	D	+	2	0	FBXO38	147775711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.266000	0.75297	0.528000	0.53228	GAT		0.383	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
FBXO38	81545	broad.mit.edu	37	5	147806802	147806802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:147806802C>T	ENST00000340253.5	+	15	2113	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Nonsense_Mutation_p.R649*			Q6PIJ6	FBX38_HUMAN	F-box protein 38	649					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R649*(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCCACTTCGAAAGAGGTA	0.463																																					p.R649X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1945T	5						.						54.0	51.0	52.0					5																	147806802		2203	4300	6503	147786995	SO:0001587	stop_gained	81545	exon15			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1945C>T	5.37:g.147806802C>T	ENSP00000342023:p.Arg649*		147786995	NM_205836	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Nonsense_Mutation	SNP	ENST00000340253.5	37		.	.	.	.	.	.	.	.	.	.	C	39	7.312750	0.98203	.	.	ENSG00000145868	ENST00000340253;ENST00000394370	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0239	19.0415	0.93002	0.0:1.0:0.0:0.0	.	.	.	.	X	649	.	ENSP00000342023:R649X	R	+	1	2	FBXO38	147786995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.510000	0.45468	2.840000	0.97914	0.655000	0.94253	CGA		0.463	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
SLC26A2	1836	broad.mit.edu	37	5	149361100	149361100	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:149361100T>G	ENST00000286298.4	+	3	2212	c.1944T>G	c.(1942-1944)acT>acG	p.T648T		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	648	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.T648T(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCTGCATACTATAGTGATTG	0.423																																					p.T648T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1944G	5						.						95.0	95.0	95.0					5																	149361100		2203	4300	6503	149341293	SO:0001819	synonymous_variant	1836	exon3			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1944T>G	5.37:g.149361100T>G			149341293	NM_000112	A8K2U3|B2R6J1|Q6N051	Silent	SNP	ENST00000286298.4	37	CCDS4300.1																																																																																				0.423	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112	
ZNF300	91975	broad.mit.edu	37	5	150275860	150275860	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:150275860A>G	ENST00000274599.5	-	6	1361	c.941T>C	c.(940-942)gTa>gCa	p.V314A	ZNF300_ENST00000446148.2_Missense_Mutation_p.V330A|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.V278A|ZNF300_ENST00000394226.2_Missense_Mutation_p.V314A	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V314A(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCTGATGTACAACAAGATG	0.388																																					p.V330A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T989C	5						.						101.0	105.0	103.0					5																	150275860		2203	4299	6502	150256053	SO:0001583	missense	91975	exon7			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.941T>C	5.37:g.150275860A>G	ENSP00000274599:p.Val314Ala		150256053	NM_001172831	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505132	0.26949	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07021	3.23;3.23;3.23;3.23	3.59	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.01686	-0.76	0.09310	N	0.999995	B	0.25521	0.128	B	0.26770	0.073	T	0.40869	-0.9540	9	0.09590	T	0.72	.	10.4444	0.44486	1.0:0.0:0.0:0.0	.	314	Q96RE9	ZN300_HUMAN	A	330;314;278;314	ENSP00000397178:V330A;ENSP00000274599:V314A;ENSP00000392593:V278A;ENSP00000377773:V314A	ENSP00000274599:V314A	V	-	2	0	ZNF300	150256053	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-2.526000	0.00947	1.633000	0.50488	0.460000	0.39030	GTA		0.388	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860	
FAT2	2196	broad.mit.edu	37	5	150925424	150925424	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:150925424G>T	ENST00000261800.5	-	9	5276	c.5264C>A	c.(5263-5265)gCt>gAt	p.A1755D		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1755	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1755D(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACATAGGAGCATTGTCATT	0.398																																					p.A1755D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5264A	5						.						157.0	161.0	160.0					5																	150925424		2202	4300	6502	150905617	SO:0001583	missense	2196	exon9			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5264C>A	5.37:g.150925424G>T	ENSP00000261800:p.Ala1755Asp		150905617	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727491	0.48833	.	.	ENSG00000086570	ENST00000261800	T	0.62232	0.04	5.25	4.38	0.52667	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.219014	0.31542	N	0.007469	T	0.71771	0.3379	M	0.86651	2.83	0.43750	D	0.996259	D	0.55605	0.972	P	0.52309	0.695	T	0.73007	-0.4118	10	0.41790	T	0.15	.	8.2138	0.31499	0.2562:0.0:0.7438:0.0	.	1755	Q9NYQ8	FAT2_HUMAN	D	1755	ENSP00000261800:A1755D	ENSP00000261800:A1755D	A	-	2	0	FAT2	150905617	1.000000	0.71417	0.724000	0.30704	0.790000	0.44656	5.689000	0.68234	1.199000	0.43173	0.467000	0.42956	GCT		0.398	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150946748	150946748	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:150946748G>A	ENST00000261800.5	-	1	1757	c.1745C>T	c.(1744-1746)tCg>tTg	p.S582L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	582	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S582L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCATTATCGATTTCCCTAC	0.403																																					p.S582L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1745T	5						.						84.0	87.0	86.0					5																	150946748		2203	4300	6503	150926941	SO:0001583	missense	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1745C>T	5.37:g.150946748G>A	ENSP00000261800:p.Ser582Leu		150926941	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	0.975	-0.698826	0.03279	.	.	ENSG00000086570	ENST00000261800	T	0.52057	0.68	5.75	4.82	0.62117	Cadherin (3);Cadherin-like (1);	0.793165	0.11221	N	0.586667	T	0.30696	0.0773	L	0.28115	0.83	0.09310	N	1	B	0.32829	0.386	B	0.19391	0.025	T	0.05451	-1.0884	10	0.10111	T	0.7	.	13.4374	0.61092	0.0:0.0:0.7255:0.2745	.	582	Q9NYQ8	FAT2_HUMAN	L	582	ENSP00000261800:S582L	ENSP00000261800:S582L	S	-	2	0	FAT2	150926941	0.003000	0.15002	0.007000	0.13788	0.001000	0.01503	0.650000	0.24858	2.713000	0.92767	0.655000	0.94253	TCG		0.403	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
FAT2	2196	broad.mit.edu	37	5	150947869	150947869	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:150947869C>A	ENST00000261800.5	-	1	636	c.624G>T	c.(622-624)aaG>aaT	p.K208N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	208	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K208N(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACGTTAAGCTTCCCAGCCA	0.542																																					p.K208N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G624T	5						.						77.0	69.0	72.0					5																	150947869		2203	4300	6503	150928062	SO:0001583	missense	2196	exon1			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.624G>T	5.37:g.150947869C>A	ENSP00000261800:p.Lys208Asn		150928062	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578496	0.28180	.	.	ENSG00000086570	ENST00000261800	T	0.51325	0.71	5.61	2.37	0.29283	Cadherin (5);Cadherin-like (1);	0.357779	0.27016	N	0.021342	T	0.33731	0.0873	L	0.39085	1.19	0.24037	N	0.996091	B	0.33940	0.433	B	0.34093	0.175	T	0.13710	-1.0499	10	0.22109	T	0.4	.	9.9661	0.41725	0.0:0.6399:0.0:0.3601	.	208	Q9NYQ8	FAT2_HUMAN	N	208	ENSP00000261800:K208N	ENSP00000261800:K208N	K	-	3	2	FAT2	150928062	0.936000	0.31750	0.741000	0.31004	0.951000	0.60555	0.262000	0.18460	0.709000	0.31976	0.555000	0.69702	AAG		0.542	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
LPCAT1	79888	broad.mit.edu	37	5	1463913	1463913	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:1463913G>A	ENST00000283415.3	-	14	1590	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	486	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.F486F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ATTCCTCTGCGAAGGCAGGGT	0.527																																					p.F486F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1458T	5						.						124.0	120.0	122.0					5																	1463913		2203	4300	6503	1516913	SO:0001819	synonymous_variant	79888	exon14			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1458C>T	5.37:g.1463913G>A			1516913	NM_024830	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	ENST00000283415.3	37	CCDS3864.1																																																																																				0.527	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830	
G3BP1	10146	broad.mit.edu	37	5	151169896	151169896	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:151169896G>T	ENST00000394123.3	+	3	253	c.108G>T	c.(106-108)aaG>aaT	p.K36N	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Missense_Mutation_p.K36N			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	36	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.K36N(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TTTATGGAAAGAACTCTTCTT	0.348																																					p.K36N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G108T	5						.						52.0	53.0	53.0					5																	151169896		2203	4300	6503	151150089	SO:0001583	missense	10146	exon3			BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.108G>T	5.37:g.151169896G>T	ENSP00000377681:p.Lys36Asn		151150089	NM_005754	Q5HYE9	Missense_Mutation	SNP	ENST00000394123.3	37	CCDS4319.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305569	0.40795	.	.	ENSG00000145907	ENST00000523519;ENST00000520578;ENST00000394123;ENST00000356245;ENST00000507878;ENST00000274596;ENST00000520006	T;T	0.73897	-0.79;-0.79	4.55	1.73	0.24493	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	L	0.35593	1.075	0.80722	D	1	B;B	0.24132	0.014;0.098	B;B	0.25759	0.021;0.063	T	0.52975	-0.8503	10	0.52906	T	0.07	-5.2286	8.4541	0.32888	0.2996:0.0:0.7004:0.0	.	36;36	E5RJU8;Q13283	.;G3BP1_HUMAN	N	36;36;36;36;46;36;36	ENSP00000377681:K36N;ENSP00000348578:K36N	ENSP00000274596:K36N	K	+	3	2	G3BP1	151150089	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.339000	0.43965	0.117000	0.18138	0.455000	0.32223	AAG		0.348	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754	
LARP1	23367	broad.mit.edu	37	5	154190910	154190910	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:154190910G>A	ENST00000336314.4	+	17	2740	c.2716G>A	c.(2716-2718)Gaa>Aaa	p.E906K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	983					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.E983K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAGGACTATGAAGCTGGTAA	0.483																																					p.E906K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2716A	5						.						84.0	82.0	83.0					5																	154190910		2203	4300	6503	154171103	SO:0001583	missense	23367	exon17			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2716G>A	5.37:g.154190910G>A	ENSP00000336721:p.Glu906Lys		154171103	NM_015315	O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256812	0.95336	.	.	ENSG00000155506	ENST00000336314	T	0.26373	1.74	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.54965	1.715	0.80722	D	1	B;P	0.36110	0.402;0.537	B;B	0.40009	0.168;0.316	T	0.01879	-1.1255	10	0.44086	T	0.13	-18.8671	20.5792	0.99380	0.0:0.0:1.0:0.0	.	983;906	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	K	906	ENSP00000336721:E906K	ENSP00000336721:E906K	E	+	1	0	LARP1	154171103	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	9.787000	0.99055	2.873000	0.98535	0.561000	0.74099	GAA		0.483	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
GEMIN5	25929	broad.mit.edu	37	5	154267921	154267921	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:154267921T>C	ENST00000285873.7	-	28	4451	c.4376A>G	c.(4375-4377)gAt>gGt	p.D1459G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1459					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.D1459G(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCAGCACATCTGGGAAGGG	0.547																																					p.D1459G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4376G	5						.						71.0	68.0	69.0					5																	154267921		2203	4300	6503	154248114	SO:0001583	missense	25929	exon28			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4376A>G	5.37:g.154267921T>C	ENSP00000285873:p.Asp1459Gly		154248114	NM_015465	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.363082	0.82353	.	.	ENSG00000082516	ENST00000285873	T	0.81078	-1.45	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.69823	2.125	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.89693	0.3899	10	0.87932	D	0	-21.2886	13.8359	0.63408	0.0:0.0:0.0:1.0	.	1458;1459	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	G	1459	ENSP00000285873:D1459G	ENSP00000285873:D1459G	D	-	2	0	GEMIN5	154248114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.259000	0.65485	2.246000	0.74042	0.533000	0.62120	GAT		0.547	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
KIF4B	285643	broad.mit.edu	37	5	154394055	154394055	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:154394055T>C	ENST00000435029.4	+	1	796	c.636T>C	c.(634-636)tcT>tcC	p.S212S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	212	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.S212S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTCCCGATCTCATGCCATCT	0.463																																					p.S212S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T636C	5						.						116.0	111.0	113.0					5																	154394055		2203	4300	6503	154374248	SO:0001819	synonymous_variant	285643	exon1			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.636T>C	5.37:g.154394055T>C			154374248	NM_001099293		Silent	SNP	ENST00000435029.4	37	CCDS47324.1																																																																																				0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
KIF4B	285643	broad.mit.edu	37	5	154397062	154397062	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:154397062G>A	ENST00000435029.4	+	1	3803	c.3643G>A	c.(3643-3645)Gct>Act	p.A1215T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1215	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAGAAACGAGCTCTGGCTAG	0.517																																					p.A1215T												.	.	0			c.G3643A	5						.						44.0	46.0	46.0					5																	154397062		2203	4300	6503	154377255	SO:0001583	missense	285643	exon1			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3643G>A	5.37:g.154397062G>A	ENSP00000387875:p.Ala1215Thr		154377255	NM_001099293		Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388035	0.25118	.	.	ENSG00000226650	ENST00000435029	T	0.46819	0.86	1.77	0.866	0.19079	.	.	.	.	.	T	0.32102	0.0818	L	0.36672	1.1	0.28148	N	0.929519	B	0.09022	0.002	B	0.06405	0.002	T	0.22977	-1.0201	9	0.22706	T	0.39	.	6.002	0.19525	0.1849:0.0:0.8151:0.0	.	1215	Q2VIQ3	KIF4B_HUMAN	T	1215	ENSP00000387875:A1215T	ENSP00000387875:A1215T	A	+	1	0	KIF4B	154377255	0.995000	0.38212	0.994000	0.49952	0.974000	0.67602	0.305000	0.19254	0.297000	0.22615	0.563000	0.77884	GCT		0.517	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1		
TIMD4	91937	broad.mit.edu	37	5	156376729	156376729	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:156376729G>A	ENST00000274532.2	-	4	749	c.693C>T	c.(691-693)gtC>gtT	p.V231V	TIMD4_ENST00000407087.3_Silent_p.V231V	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	231						integral component of membrane (GO:0016021)		p.V231V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGGGGAGGACAGTTTCTG	0.453																																					p.V231V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C693T	5						.						78.0	64.0	69.0					5																	156376729		2203	4300	6503	156309307	SO:0001819	synonymous_variant	91937	exon4			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.693C>T	5.37:g.156376729G>A			156309307	NM_138379	B5MCL9	Silent	SNP	ENST00000274532.2	37	CCDS4332.1																																																																																				0.453	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379	
FAM71B	153745	broad.mit.edu	37	5	156589801	156589801	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:156589801C>T	ENST00000302938.4	-	2	1570	c.1475G>A	c.(1474-1476)cGa>cAa	p.R492Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	492						nucleus (GO:0005634)		p.R492Q(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAGCCATGTCGCTTGCCCCT	0.507																																					p.R492Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1475A	5						.						222.0	214.0	217.0					5																	156589801		2203	4300	6503	156522379	SO:0001583	missense	153745	exon2				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1475G>A	5.37:g.156589801C>T	ENSP00000305596:p.Arg492Gln		156522379	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761382	0.31228	.	.	ENSG00000170613	ENST00000302938	T	0.17213	2.29	4.52	3.66	0.41972	.	1.401120	0.05414	N	0.542942	T	0.12305	0.0299	L	0.29908	0.895	0.09310	N	1	P	0.52316	0.952	B	0.34722	0.188	T	0.24333	-1.0163	10	0.40728	T	0.16	-0.8342	9.1259	0.36814	0.0:0.8955:0.0:0.1045	.	492	Q8TC56	FA71B_HUMAN	Q	492	ENSP00000305596:R492Q	ENSP00000305596:R492Q	R	-	2	0	FAM71B	156522379	0.030000	0.19436	0.002000	0.10522	0.003000	0.03518	1.937000	0.40193	1.211000	0.43351	-0.136000	0.14681	CGA		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
FAM71B	153745	broad.mit.edu	37	5	156590044	156590044	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:156590044C>T	ENST00000302938.4	-	2	1327	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	411						nucleus (GO:0005634)		p.R411Q(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTTCCATCTCGTTCACTCAT	0.488																																					p.R411Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1232A	5						.						91.0	94.0	93.0					5																	156590044		2203	4300	6503	156522622	SO:0001583	missense	153745	exon2				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1232G>A	5.37:g.156590044C>T	ENSP00000305596:p.Arg411Gln		156522622	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.128886	0.01756	.	.	ENSG00000170613	ENST00000302938	T	0.18810	2.19	4.4	2.6	0.31112	.	0.379360	0.19266	N	0.118530	T	0.12220	0.0297	L	0.41710	1.295	0.09310	N	1	B	0.31599	0.33	B	0.16722	0.016	T	0.26985	-1.0087	10	0.12430	T	0.62	-9.0578	7.3549	0.26713	0.0:0.7891:0.0:0.2109	.	411	Q8TC56	FA71B_HUMAN	Q	411	ENSP00000305596:R411Q	ENSP00000305596:R411Q	R	-	2	0	FAM71B	156522622	0.350000	0.24878	0.005000	0.12908	0.003000	0.03518	1.264000	0.33015	0.555000	0.29079	0.561000	0.74099	CGA		0.488	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
ITK	3702	broad.mit.edu	37	5	156608060	156608060	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:156608060G>A	ENST00000422843.3	+	1	224	c.72G>A	c.(70-72)tcG>tcA	p.S24S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	24	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S24S(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CTTCTCCCTCGAACTTTAAAG	0.423			T	SYK	peripheral T-cell lymphoma																																p.S24S	Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G72A	5						.						115.0	107.0	110.0					5																	156608060		2203	4300	6503	156540638	SO:0001819	synonymous_variant	3702	exon1			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.72G>A	5.37:g.156608060G>A			156540638	NM_005546	B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	CCDS4336.1																																																																																				0.423	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
ITK	3702	broad.mit.edu	37	5	156649963	156649963	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:156649963G>A	ENST00000422843.3	+	6	738	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	196	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E196K(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GCGGCGCAACGAAGAGTACTG	0.517			T	SYK	peripheral T-cell lymphoma																																p.E196K	Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G586A	5						.						134.0	124.0	127.0					5																	156649963		2203	4300	6503	156582541	SO:0001583	missense	3702	exon6			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.586G>A	5.37:g.156649963G>A	ENSP00000398655:p.Glu196Lys		156582541	NM_005546	B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521520	0.64747	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;T	0.90900	-2.75;0.41	5.81	5.81	0.92471	Src homology-3 domain (4);	0.215051	0.47852	D	0.000210	D	0.95436	0.8518	H	0.94847	3.59	0.45607	D	0.998547	D	0.63046	0.992	P	0.53490	0.727	D	0.95183	0.8301	10	0.38643	T	0.18	.	17.008	0.86398	0.0:0.0:1.0:0.0	.	196	Q08881	ITK_HUMAN	K	71;196	ENSP00000430327:E71K;ENSP00000398655:E196K	ENSP00000398655:E196K	E	+	1	0	ITK	156582541	1.000000	0.71417	0.817000	0.32601	0.296000	0.27459	4.708000	0.61859	2.746000	0.94184	0.591000	0.81541	GAA		0.517	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
FABP6	2172	broad.mit.edu	37	5	159656585	159656585	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:159656585C>T	ENST00000402432.3	+	1	149	c.21C>T	c.(19-21)ttC>ttT	p.F7F	FABP6_ENST00000393980.4_Silent_p.F56F|FABP6_ENST00000393982.1_Silent_p.F56F	NM_001445.2	NP_001436.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	7					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.F7F(1)|p.F56F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGCAAGTTCGAGATGGAGA	0.547																																					p.F56F	Colon(29;562 677 12756 16385 20992)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C168T	5						.						176.0	163.0	167.0					5																	159656585		2203	4300	6503	159589163	SO:0001819	synonymous_variant	2172	exon4			U19869	CCDS4349.1, CCDS43393.1	5q23-q35	2013-03-01	2008-08-01		ENSG00000170231	ENSG00000170231		"""Fatty acid binding protein family"""	3561	protein-coding gene	gene with protein product	"""illeal lipid-binding protein"", ""ileal bile acid binding protein"", ""gastrotropin"""	600422				7894165, 7619861	Standard	NM_001130958		Approved	I-15P, ILLBP, I-BAP, ILBP3, I-BABP, ILBP, I-BALB	uc003lxx.1	P51161	OTTHUMG00000130329	ENST00000402432.3:c.21C>T	5.37:g.159656585C>T			159589163	NM_001130958	Q07DR7|Q8TBI3|Q9UGI7	Silent	SNP	ENST00000402432.3	37	CCDS4349.1																																																																																				0.547	FABP6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320505.2	NM_001040442	
FBXL7	23194	broad.mit.edu	37	5	15937016	15937016	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:15937016G>T	ENST00000504595.1	+	4	1678	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	FBXL7_ENST00000510662.1_Missense_Mutation_p.K352N|FBXL7_ENST00000329673.7_Missense_Mutation_p.K387N|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	399					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.K399N(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCTCGCCAAGAACTGCACCA	0.602																																					p.K399N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1197T	5						.						102.0	109.0	106.0					5																	15937016		2155	4247	6402	15990016	SO:0001583	missense	23194	exon4			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1197G>T	5.37:g.15937016G>T	ENSP00000423630:p.Lys399Asn		15990016	NM_012304	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072491	0.55646	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.52754	0.65;4.3;0.65	5.37	4.38	0.52667	.	0.044727	0.85682	D	0.000000	T	0.24890	0.0604	N	0.12746	0.255	0.45354	D	0.99834	P	0.39920	0.695	B	0.40038	0.317	T	0.04029	-1.0983	10	0.23891	T	0.37	.	3.4889	0.07630	0.368:0.0:0.632:0.0	.	399	Q9UJT9	FBXL7_HUMAN	N	399;352;387	ENSP00000423630:K399N;ENSP00000425184:K352N;ENSP00000329632:K387N	ENSP00000329632:K387N	K	+	3	2	FBXL7	15990016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.661000	0.54503	2.525000	0.85131	0.655000	0.94253	AAG		0.602	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304	
SLU7	10569	broad.mit.edu	37	5	159842174	159842174	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:159842174C>T	ENST00000297151.4	-	2	515	c.128G>A	c.(127-129)cGa>cAa	p.R43Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	43					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)	p.R43Q(1)		endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCAATTTTCGCTGTTCTTC	0.398																																					p.R43Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G128A	5						.						176.0	177.0	177.0					5																	159842174		2203	4300	6503	159774752	SO:0001583	missense	10569	exon2			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.128G>A	5.37:g.159842174C>T	ENSP00000297151:p.Arg43Gln		159774752	NM_006425	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494884	0.85069	.	.	ENSG00000164609	ENST00000297151;ENST00000521826;ENST00000519349;ENST00000520664	T;T;T	0.59364	0.78;0.31;0.27	5.95	3.24	0.37175	.	0.088884	0.85682	N	0.000000	T	0.74390	0.3710	M	0.80028	2.48	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.74405	-0.3676	10	0.56958	D	0.05	-20.5436	11.1471	0.48436	0.0:0.8021:0.0:0.1979	.	43	O95391	SLU7_HUMAN	Q	43	ENSP00000297151:R43Q;ENSP00000428943:R43Q;ENSP00000429990:R43Q	ENSP00000297151:R43Q	R	-	2	0	SLU7	159774752	1.000000	0.71417	0.471000	0.27229	0.973000	0.67179	5.702000	0.68332	0.430000	0.26230	-0.145000	0.13849	CGA		0.398	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425	
ATP10B	23120	broad.mit.edu	37	5	159996541	159996541	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:159996541G>A	ENST00000327245.5	-	25	4746	c.3900C>T	c.(3898-3900)ctC>ctT	p.L1300L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1300					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L1300L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAAGCAGACGAGGTAGAAAG	0.483																																					p.L1300L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3900T	5						.						100.0	106.0	104.0					5																	159996541		1965	4156	6121	159929119	SO:0001819	synonymous_variant	23120	exon25			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3900C>T	5.37:g.159996541G>A			159929119	NM_025153	Q9H725	Silent	SNP	ENST00000327245.5	37	CCDS43394.1																																																																																				0.483	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
GABRA6	2559	broad.mit.edu	37	5	161119083	161119083	+	Silent	SNP	C	C	T	rs148840190		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:161119083C>T	ENST00000274545.5	+	8	1396	c.963C>T	c.(961-963)ttC>ttT	p.F321F	GABRA6_ENST00000523217.1_Silent_p.F311F|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	321					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F321F(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTATCGAGTTCGCAGCTGTCA	0.478										TCGA Ovarian(5;0.080)																											p.F321F												.	.	2	Substitution - coding silent(2)	large_intestine(1)|skin(1)	c.C963T	5						.						165.0	138.0	147.0					5																	161119083		2203	4300	6503	161051661	SO:0001819	synonymous_variant	2559	exon8				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.963C>T	5.37:g.161119083C>T			161051661	NM_000811	A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	CCDS4356.1																																																																																				0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
MYO10	4651	broad.mit.edu	37	5	16668425	16668425	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:16668425G>A	ENST00000513610.1	-	40	6490	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_ENST00000274203.9_Silent_p.I1369I|MYO10_ENST00000515803.1_Silent_p.I1351I|MYO10_ENST00000505695.1_Silent_p.I1351I|MYO10_ENST00000427430.2_Silent_p.I1369I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2012	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.I2012I(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCGACCACGATCTTATACG	0.478																																					p.I2012I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C6036T	5						.						151.0	154.0	153.0					5																	16668425		2008	4173	6181	16721425	SO:0001819	synonymous_variant	4651	exon40			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.6036C>T	5.37:g.16668425G>A			16721425	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																				0.478	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
HMMR	3161	broad.mit.edu	37	5	162902498	162902498	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:162902498C>T	ENST00000358715.3	+	11	1121	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F	HMMR_ENST00000393915.4_Missense_Mutation_p.S363F|HMMR_ENST00000353866.3_Missense_Mutation_p.S347F|HMMR_ENST00000432118.2_Missense_Mutation_p.S276F			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	362					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)	p.S362F(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAGCTCTGTTCTTTTCAAGAG	0.363																																					p.S347F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1040T	5						.						69.0	72.0	71.0					5																	162902498		2203	4300	6503	162835076	SO:0001583	missense	3161	exon10			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1085C>T	5.37:g.162902498C>T	ENSP00000351554:p.Ser362Phe		162835076	NM_012485	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	ENST00000358715.3	37	CCDS4362.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011726	0.54468	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	5.67	0.377	0.16198	.	0.771183	0.12710	N	0.445573	T	0.19208	0.0461	L	0.57536	1.79	0.09310	N	1	D;D;D;D	0.76494	0.976;0.999;0.976;0.976	P;D;P;P	0.71656	0.792;0.974;0.792;0.792	T	0.06427	-1.0827	10	0.66056	D	0.02	-0.0871	6.4888	0.22103	0.4486:0.4058:0.0:0.1455	.	276;363;347;362	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	F	248;347;363;339;276;362	ENSP00000400527:S248F;ENSP00000185942:S347F;ENSP00000377492:S363F;ENSP00000402673:S276F;ENSP00000351554:S362F	ENSP00000185942:S347F	S	+	2	0	HMMR	162835076	0.001000	0.12720	0.265000	0.24526	0.897000	0.52465	0.473000	0.22132	0.378000	0.24764	0.585000	0.79938	TCT		0.363	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	NM_012484	
TENM2	57451	broad.mit.edu	37	5	167630735	167630735	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:167630735C>A	ENST00000518659.1	+	18	3511	c.3472C>A	c.(3472-3474)Ctc>Atc	p.L1158I	TENM2_ENST00000520394.1_Missense_Mutation_p.L926I|TENM2_ENST00000519204.1_Missense_Mutation_p.L1037I|TENM2_ENST00000545108.1_Missense_Mutation_p.L1158I|TENM2_ENST00000403607.2_Missense_Mutation_p.L982I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1158					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L991I(2)|p.L1158I(1)									CAGTCTAATTCTCTGGGAGAA	0.488																																					p.L1149I												.	.	3	Substitution - Missense(3)	large_intestine(2)|pancreas(1)	c.C3445A	5						.						116.0	109.0	111.0					5																	167630735		1856	4095	5951	167563313	SO:0001583	missense	57451	exon18			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3472C>A	5.37:g.167630735C>A	ENSP00000429430:p.Leu1158Ile		167563313	NM_001122679	Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37		.	.	.	.	.	.	.	.	.	.	c	18.95	3.731453	0.69189	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89415	-2.04;-2.03;-2.14;-2.48;-2.51	5.06	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	L	0.53561	1.675	0.42507	D	0.99295	D;D;D	0.76494	0.999;0.999;0.99	D;D;D	0.77004	0.989;0.976;0.979	D	0.91569	0.5270	10	0.66056	D	0.02	.	10.3621	0.44001	0.0:0.8183:0.0:0.1817	.	1158;1158;926	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	1158;1158;1037;926;982	ENSP00000429430:L1158I;ENSP00000438635:L1158I;ENSP00000428964:L1037I;ENSP00000427874:L926I;ENSP00000384905:L982I	ENSP00000384905:L982I	L	+	1	0	ODZ2	167563313	1.000000	0.71417	0.955000	0.39395	0.985000	0.73830	2.545000	0.45769	2.499000	0.84300	0.645000	0.84053	CTC		0.488	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
TENM2	57451	broad.mit.edu	37	5	167674559	167674559	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:167674559C>T	ENST00000518659.1	+	27	6654	c.6615C>T	c.(6613-6615)taC>taT	p.Y2205Y	TENM2_ENST00000520394.1_Silent_p.Y1966Y|TENM2_ENST00000519204.1_Silent_p.Y2084Y|TENM2_ENST00000545108.1_Silent_p.Y2204Y|TENM2_ENST00000403607.2_Silent_p.Y2029Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2205					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.Y2038Y(1)|p.Y2205Y(1)									CCTATGACTACGATGGGGACG	0.552																																					p.Y2196Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6588T	5						.						77.0	74.0	75.0					5																	167674559		2053	4200	6253	167607137	SO:0001819	synonymous_variant	57451	exon27			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6615C>T	5.37:g.167674559C>T			167607137	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																					0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
SLIT3	6586	broad.mit.edu	37	5	168112761	168112761	+	Silent	SNP	G	G	A	rs148625020		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:168112761G>A	ENST00000519560.1	-	31	3905	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	SLIT3_ENST00000404867.3_Silent_p.F1162F|SLIT3_ENST00000332966.8_Silent_p.F1169F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1162	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.F1162F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTGCCCACGAAGTTGACAG	0.657																																					p.F1162F	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3486T	5						.	G		1,4405	2.1+/-5.4	0,1,2202	71.0	72.0	71.0		3486	-0.6	1.0	5	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous	SLIT3	NM_003062.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1162/1524	168112761	1,13005	2203	4300	6503	168045339	SO:0001819	synonymous_variant	6586	exon31			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3486C>T	5.37:g.168112761G>A			168045339	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	CCDS4369.1																																																																																				0.657	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
SLIT3	6586	broad.mit.edu	37	5	168201264	168201264	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:168201264G>A	ENST00000519560.1	-	13	1690	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	SLIT3_ENST00000404867.3_Missense_Mutation_p.A424V|SLIT3_ENST00000332966.8_Missense_Mutation_p.A424V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	424					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.A424V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCAGAGGGGCGAAGAGCCC	0.562																																					p.A424V	Ovarian(29;311 847 10864 17279 24903)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1271T	5						.						180.0	172.0	175.0					5																	168201264		2203	4300	6503	168133842	SO:0001583	missense	6586	exon13			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1271C>T	5.37:g.168201264G>A	ENSP00000430333:p.Ala424Val		168133842	NM_003062	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173433	0.57584	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.25414	1.8;1.8;1.8	5.5	4.62	0.57501	.	0.142205	0.64402	N	0.000005	T	0.25680	0.0625	L	0.43598	1.365	0.48696	D	0.999697	B;B;B	0.22746	0.003;0.074;0.022	B;B;B	0.32022	0.006;0.059;0.139	T	0.04373	-1.0956	10	0.39692	T	0.17	.	11.8197	0.52232	0.1426:0.0:0.8574:0.0	.	424;424;424	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	V	424	ENSP00000430333:A424V;ENSP00000332164:A424V;ENSP00000384890:A424V	ENSP00000332164:A424V	A	-	2	0	SLIT3	168133842	0.999000	0.42202	0.631000	0.29282	0.982000	0.71751	5.776000	0.68924	1.296000	0.44742	0.650000	0.86243	GCC		0.562	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
SPDL1	54908	broad.mit.edu	37	5	169028395	169028395	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:169028395G>A	ENST00000265295.4	+	11	1715	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1									p.R479Q(1)									GAAGTTTATCGATTACCGCCT	0.448																																					p.R479Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1436A	5						.						106.0	108.0	107.0					5																	169028395		2203	4300	6503	168960973	SO:0001583	missense	54908	exon11			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1436G>A	5.37:g.169028395G>A	ENSP00000265295:p.Arg479Gln		168960973	NM_017785		Missense_Mutation	SNP	ENST00000265295.4	37	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755935	0.31137	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.30981	1.51	5.77	4.8	0.61643	.	0.530450	0.20045	N	0.100430	T	0.21881	0.0527	L	0.41236	1.265	0.09310	N	1	P;P;P	0.51449	0.942;0.945;0.832	B;B;B	0.42245	0.355;0.381;0.199	T	0.09975	-1.0650	10	0.10902	T	0.67	-3.1292	8.7673	0.34711	0.103:0.0:0.7318:0.1652	.	401;380;479	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	Q	479;380	ENSP00000265295:R479Q	ENSP00000265295:R479Q	R	+	2	0	CCDC99	168960973	0.005000	0.15991	0.032000	0.17829	0.003000	0.03518	0.488000	0.22371	2.734000	0.93682	0.650000	0.86243	CGA		0.448	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785	
DOCK2	1794	broad.mit.edu	37	5	169446017	169446017	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:169446017A>G	ENST00000256935.8	+	33	3366	c.3286A>G	c.(3286-3288)Aca>Gca	p.T1096A	DOCK2_ENST00000520908.1_Missense_Mutation_p.T588A|DOCK2_ENST00000540750.1_Missense_Mutation_p.T157A|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1096	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.T1096A(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTAGAGATGACACTTATCCC	0.438																																					p.T1096A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3286G	5						.						205.0	198.0	200.0					5																	169446017		2203	4300	6503	169378595	SO:0001583	missense	1794	exon33			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3286A>G	5.37:g.169446017A>G	ENSP00000256935:p.Thr1096Ala		169378595	NM_004946	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541556	0.85917	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.25912	1.77;1.77;1.77	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.68593	2.085	0.51233	D	0.999913	D;P	0.69078	0.997;0.823	D;P	0.65573	0.936;0.541	T	0.34354	-0.9832	10	0.12103	T	0.63	.	14.3619	0.66779	1.0:0.0:0.0:0.0	.	588;1096	E7ERW7;Q92608	.;DOCK2_HUMAN	A	1096;588;157	ENSP00000256935:T1096A;ENSP00000429283:T588A;ENSP00000438827:T157A	ENSP00000256935:T1096A	T	+	1	0	DOCK2	169378595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.218000	0.95166	1.795000	0.52594	0.528000	0.53228	ACA		0.438	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
CREBRF	153222	broad.mit.edu	37	5	172513547	172513547	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:172513547G>A	ENST00000296953.2	+	3	372	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	CREBRF_ENST00000520420.1_Missense_Mutation_p.R18Q|CREBRF_ENST00000540014.1_Missense_Mutation_p.R18Q|CREBRF_ENST00000522692.1_Missense_Mutation_p.R18Q	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	18					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R18Q(1)									GATGCCTTTCGAAGCCACACC	0.403																																					p.R18Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53A	5						.						142.0	133.0	136.0					5																	172513547		2203	4300	6503	172446153	SO:0001583	missense	153222	exon3			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.53G>A	5.37:g.172513547G>A	ENSP00000296953:p.Arg18Gln		172446153	NM_001168393	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028614	0.54790	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000523161;ENST00000538538;ENST00000393776	T;T	0.46819	0.86;0.86	5.77	5.77	0.91146	.	0.063954	0.64402	D	0.000004	T	0.27663	0.0680	N	0.08118	0	0.58432	D	0.999994	B;P	0.37233	0.248;0.588	B;B	0.28385	0.011;0.089	T	0.10132	-1.0643	10	0.18710	T	0.47	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	18;18	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	Q	18	ENSP00000296953:R18Q;ENSP00000440075:R18Q	ENSP00000296953:R18Q	R	+	2	0	C5orf41	172446153	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.918000	0.69996	2.885000	0.99019	0.655000	0.94253	CGA		0.403	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607	
HMP19	51617	broad.mit.edu	37	5	173531332	173531332	+	Silent	SNP	C	C	T	rs559643917		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:173531332C>T	ENST00000303177.3	+	4	577	c.315C>T	c.(313-315)ttC>ttT	p.F105F	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		105					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.F105F(1)									CAGAGGGATTCGTCTATAAGG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20248	0.0		0.0	False		,,,				2504	0.001				p.F105F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C315T	5						.						152.0	128.0	136.0					5																	173531332		2203	4300	6503	173463938	SO:0001819	synonymous_variant	51617	exon4																														ENST00000303177.3:c.315C>T	5.37:g.173531332C>T			173463938	NM_015980	B2R5Y0|D3DQN0|Q9UHX8	Silent	SNP	ENST00000303177.3	37	CCDS4391.1																																																																																				0.483	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2		
DRD1	1812	broad.mit.edu	37	5	174869983	174869983	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:174869983C>A	ENST00000393752.2	-	2	1112	c.120G>T	c.(118-120)ggG>ggT	p.G40G		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	40					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.G40G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCAGCGTGTTCCCCAGGAGCG	0.577																																					p.G40G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G120T	5						.						100.0	89.0	93.0					5																	174869983		2203	4300	6503	174802589	SO:0001819	synonymous_variant	1812	exon2			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.120G>T	5.37:g.174869983C>A			174802589	NM_000794	B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	CCDS4393.1																																																																																				0.577	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794	
TSPAN17	26262	broad.mit.edu	37	5	176078626	176078626	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:176078626G>A	ENST00000503045.1	+	2	152	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	TSPAN17_ENST00000405525.2_Missense_Mutation_p.A33T|TSPAN17_ENST00000515708.1_Missense_Mutation_p.A33T|TSPAN17_ENST00000508164.1_Missense_Mutation_p.A33T|TSPAN17_ENST00000298564.10_Intron|TSPAN17_ENST00000310032.8_Missense_Mutation_p.A33T			Q96FV3	TSN17_HUMAN	tetraspanin 17	33					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)	p.A33T(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGCTGGGAGCCCTGTTCCT	0.672																																					p.A33T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G97A	5						.						29.0	29.0	29.0					5																	176078626		2203	4300	6503	176011232	SO:0001583	missense	26262	exon2			AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"""Tetraspanins"""	13594	protein-coding gene	gene with protein product			"""F-box only protein 23, transmembrane 4 superfamily member 17"""	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.97G>A	5.37:g.176078626G>A	ENSP00000425212:p.Ala33Thr		176011232	NM_001006616	Q6NXF7|Q96S98|Q9UKB9	Missense_Mutation	SNP	ENST00000503045.1	37		.	.	.	.	.	.	.	.	.	.	G	13.07	2.128113	0.37533	.	.	ENSG00000048140	ENST00000310032;ENST00000405525;ENST00000508164;ENST00000504168;ENST00000503045;ENST00000515708	T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	4.49	4.49	0.54785	.	0.602490	0.16491	N	0.212081	T	0.68522	0.3010	N	0.17564	0.495	0.39166	D	0.962504	B;P;B;B	0.41080	0.217;0.737;0.13;0.384	B;B;B;B	0.37550	0.098;0.253;0.039;0.124	T	0.72887	-0.4156	10	0.40728	T	0.16	.	16.083	0.81017	0.0:0.0:1.0:0.0	.	33;33;33;33	Q96FV3-3;C9J7R4;Q96FV3-4;Q96FV3	.;.;.;TSN17_HUMAN	T	33	ENSP00000309036:A33T;ENSP00000385665:A33T;ENSP00000422053:A33T;ENSP00000423957:A33T;ENSP00000425212:A33T;ENSP00000426650:A33T	ENSP00000309036:A33T	A	+	1	0	TSPAN17	176011232	0.983000	0.35010	1.000000	0.80357	0.948000	0.59901	2.625000	0.46452	2.314000	0.78098	0.491000	0.48974	GCC		0.672	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372215.1		
NSD1	64324	broad.mit.edu	37	5	176631233	176631233	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:176631233C>T	ENST00000439151.2	+	4	1221	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	NSD1_ENST00000347982.4_Silent_p.F123F|NSD1_ENST00000361032.4_Intron|NSD1_ENST00000354179.4_Silent_p.F123F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	392					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.F392F(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GACATCAATTCGAAGAGCTAC	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.F392F			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1176T	5						.						118.0	113.0	115.0					5																	176631233		2203	4300	6503	176563839	SO:0001819	synonymous_variant	64324	exon4	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1176C>T	5.37:g.176631233C>T			176563839	NM_022455	Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																				0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
NSD1	64324	broad.mit.edu	37	5	176637583	176637583	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:176637583T>C	ENST00000439151.2	+	5	2228	c.2183T>C	c.(2182-2184)gTt>gCt	p.V728A	NSD1_ENST00000347982.4_Missense_Mutation_p.V459A|NSD1_ENST00000361032.4_Missense_Mutation_p.V625A|NSD1_ENST00000354179.4_Missense_Mutation_p.V459A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	728					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V728A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACGTCTCAGGTTAATCTCTCT	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.V728A			Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T2183C	5						.						77.0	78.0	78.0					5																	176637583		2203	4300	6503	176570189	SO:0001583	missense	64324	exon5	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2183T>C	5.37:g.176637583T>C	ENSP00000395929:p.Val728Ala		176570189	NM_022455	Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	4.093	0.015243	0.07959	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93604	-3.15;-3.14;-3.15;-3.25	5.1	2.48	0.30137	.	0.472128	0.19182	N	0.120649	D	0.85440	0.5697	N	0.19112	0.55	0.19300	N	0.999979	B;B;B	0.17667	0.003;0.023;0.002	B;B;B	0.15484	0.008;0.013;0.004	T	0.71777	-0.4490	9	.	.	.	.	10.4177	0.44331	0.0:0.0:0.4652:0.5348	.	459;625;728	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	A	459;459;728;459;625	ENSP00000346111:V459A;ENSP00000395929:V728A;ENSP00000343209:V459A;ENSP00000354310:V625A	.	V	+	2	0	NSD1	176570189	0.997000	0.39634	0.989000	0.46669	0.007000	0.05969	0.460000	0.21924	1.029000	0.39812	0.533000	0.62120	GTT		0.423	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
N4BP3	23138	broad.mit.edu	37	5	177547489	177547489	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:177547489A>C	ENST00000274605.5	+	3	1000	c.641A>C	c.(640-642)cAc>cCc	p.H214P		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	214						cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCTTGGCCACCTTAACCAC	0.687																																					p.H214P												.	.	0			c.A641C	5						.						49.0	55.0	53.0					5																	177547489		2202	4298	6500	177480095	SO:0001583	missense	23138	exon3			AB002339	CCDS34307.1	5q35.3	2012-05-17				ENSG00000145911			29852	protein-coding gene	gene with protein product						9205841, 11717310	Standard	XM_006714834		Approved	LZTS4	uc003mik.1	O15049		ENST00000274605.5:c.641A>C	5.37:g.177547489A>C	ENSP00000274605:p.His214Pro		177480095	NM_015111	B4DIL3|D3DWP3|Q6ZSQ6|Q7Z6I3	Missense_Mutation	SNP	ENST00000274605.5	37	CCDS34307.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.064093	0.55432	.	.	ENSG00000145911	ENST00000274605	T	0.00567	6.54	5.0	5.0	0.66597	.	0.147407	0.64402	D	0.000009	T	0.00666	0.0022	L	0.35341	1.055	0.58432	D	0.999997	D	0.53885	0.963	P	0.46796	0.527	D	0.86599	0.1865	10	0.40728	T	0.16	-43.7033	12.6921	0.56980	1.0:0.0:0.0:0.0	.	214	O15049	N4BP3_HUMAN	P	214	ENSP00000274605:H214P	ENSP00000274605:H214P	H	+	2	0	N4BP3	177480095	1.000000	0.71417	0.982000	0.44146	0.387000	0.30353	7.327000	0.79147	2.101000	0.63845	0.460000	0.39030	CAC		0.687	N4BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373552.2	NM_015111	
ZNF354A	6940	broad.mit.edu	37	5	178139574	178139574	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:178139574C>A	ENST00000335815.2	-	5	1502	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	435					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E435D(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TATAAAACTTCTCTCCAGTAT	0.368																																					p.E435D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1305T	5						.						78.0	83.0	81.0					5																	178139574		2203	4300	6503	178072180	SO:0001583	missense	6940	exon5			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1305G>T	5.37:g.178139574C>A	ENSP00000337122:p.Glu435Asp		178072180	NM_005649	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724885	0.48833	.	.	ENSG00000169131	ENST00000335815	T	0.26810	1.71	4.72	1.96	0.26148	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33235	N	0.005133	T	0.38081	0.1027	L	0.52364	1.645	0.31333	N	0.684575	P	0.52061	0.95	D	0.68765	0.96	T	0.38067	-0.9678	10	0.72032	D	0.01	-12.0299	6.8166	0.23835	0.0:0.6226:0.0:0.3774	.	435	O60765	Z354A_HUMAN	D	435	ENSP00000337122:E435D	ENSP00000337122:E435D	E	-	3	2	ZNF354A	178072180	0.922000	0.31269	0.999000	0.59377	0.734000	0.41952	0.320000	0.19540	0.310000	0.22990	-0.291000	0.09656	GAG		0.368	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649	
ZNF354A	6940	broad.mit.edu	37	5	178140191	178140191	+	Missense_Mutation	SNP	G	G	A	rs547605933		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:178140191G>A	ENST00000335815.2	-	5	885	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	230					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R230C(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCATGTTTACGAAGGGATGAA	0.318																																					p.R230C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C688T	5						.						167.0	158.0	161.0					5																	178140191		2203	4300	6503	178072797	SO:0001583	missense	6940	exon5			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.688C>T	5.37:g.178140191G>A	ENSP00000337122:p.Arg230Cys		178072797	NM_005649	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087042	0.36855	.	.	ENSG00000169131	ENST00000335815	T	0.22539	1.95	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33005	N	0.005389	T	0.37785	0.1016	M	0.63169	1.94	0.26837	N	0.968462	D	0.89917	1.0	D	0.65773	0.938	T	0.07028	-1.0794	10	0.49607	T	0.09	-17.3898	10.1574	0.42831	0.0:0.2029:0.7971:0.0	.	230	O60765	Z354A_HUMAN	C	230	ENSP00000337122:R230C	ENSP00000337122:R230C	R	-	1	0	ZNF354A	178072797	0.001000	0.12720	1.000000	0.80357	0.841000	0.47740	1.092000	0.30927	2.561000	0.86390	0.655000	0.94253	CGT		0.318	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649	
ZNF354B	117608	broad.mit.edu	37	5	178309732	178309732	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:178309732G>T	ENST00000322434.3	+	5	505	c.279G>T	c.(277-279)atG>atT	p.M93I	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M93I(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTAAAATGACAAAGTCAA	0.368																																					p.M93I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G279T	5						.						60.0	61.0	61.0					5																	178309732		2195	4294	6489	178242338	SO:0001583	missense	117608	exon5			AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.279G>T	5.37:g.178309732G>T	ENSP00000327143:p.Met93Ile		178242338	NM_058230	A8K0V2|Q5U5Z4	Missense_Mutation	SNP	ENST00000322434.3	37	CCDS4439.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.394209	0.00200	.	.	ENSG00000178338	ENST00000322434;ENST00000520377	T;T	0.05081	3.5;6.31	3.53	-0.492	0.12041	.	.	.	.	.	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47222	-0.9134	9	0.19590	T	0.45	.	0.7718	0.01025	0.1807:0.388:0.1958:0.2355	.	93	Q96LW1	Z354B_HUMAN	I	93	ENSP00000327143:M93I;ENSP00000429827:M93I	ENSP00000327143:M93I	M	+	3	0	ZNF354B	178242338	0.000000	0.05858	0.013000	0.15412	0.009000	0.06853	-0.544000	0.06077	-0.390000	0.07774	-1.099000	0.02127	ATG		0.368	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230	
ZFP2	80108	broad.mit.edu	37	5	178359050	178359050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:178359050G>T	ENST00000361362.2	+	5	1266	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	ZFP2_ENST00000523286.1_Nonsense_Mutation_p.E246*|ZFP2_ENST00000503510.2_Nonsense_Mutation_p.E246*|ZFP2_ENST00000520301.1_Nonsense_Mutation_p.E246*	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E246*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TGAATGTAATGAATGTGGAAA	0.378																																					p.E246X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G736T	5						.						61.0	64.0	63.0					5																	178359050		2203	4300	6503	178291656	SO:0001587	stop_gained	80108	exon5			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.736G>T	5.37:g.178359050G>T	ENSP00000354453:p.Glu246*		178291656	NM_030613	A5PLN5|B7ZM23|Q9H6Z6	Nonsense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	27.8	4.860547	0.91433	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	.	.	.	4.94	0.93	0.19454	.	0.556421	0.13568	N	0.378279	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-5.4547	4.4714	0.11714	0.0837:0.2964:0.4764:0.1435	.	.	.	.	X	246	.	ENSP00000354453:E246X	E	+	1	0	ZFP2	178291656	0.001000	0.12720	0.071000	0.20095	0.861000	0.49209	0.965000	0.29319	-0.023000	0.13963	-0.182000	0.12963	GAA		0.378	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613	
ZNF354C	30832	broad.mit.edu	37	5	178506763	178506763	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:178506763G>T	ENST00000315475.6	+	5	1636	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E444*(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TACATGTGAGGAATGTGGGAA	0.393																																					p.E444X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1330T	5						.						65.0	72.0	69.0					5																	178506763		2203	4300	6503	178439369	SO:0001587	stop_gained	30832	exon5				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1330G>T	5.37:g.178506763G>T	ENSP00000324064:p.Glu444*		178439369	NM_014594	Q6P4P9|Q8NFX1	Nonsense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	37	6.575379	0.97676	.	.	ENSG00000177932	ENST00000315475	.	.	.	4.22	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-15.3232	12.0309	0.53397	0.0:0.1761:0.8239:0.0	.	.	.	.	X	444	.	ENSP00000324064:E444X	E	+	1	0	ZNF354C	178439369	0.037000	0.19845	0.426000	0.26672	0.926000	0.56050	1.262000	0.32992	1.099000	0.41499	0.591000	0.81541	GAA		0.393	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		
MAML1	9794	broad.mit.edu	37	5	179201756	179201756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:179201756C>T	ENST00000292599.3	+	5	3192	c.2929C>T	c.(2929-2931)Cag>Tag	p.Q977*	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATAGCGGGCAGCCAGGTGG	0.632																																					p.Q977X												.	.	0			c.C2929T	5						.						56.0	56.0	56.0					5																	179201756		2203	4300	6503	179134362	SO:0001587	stop_gained	9794	exon5			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2929C>T	5.37:g.179201756C>T	ENSP00000292599:p.Gln977*		179134362	NM_014757		Nonsense_Mutation	SNP	ENST00000292599.3	37	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	42	9.312300	0.99133	.	.	ENSG00000161021	ENST00000292599	.	.	.	5.27	5.27	0.74061	.	0.249595	0.34750	N	0.003701	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-15.0727	18.887	0.92383	0.0:1.0:0.0:0.0	.	.	.	.	X	977	.	ENSP00000292599:Q977X	Q	+	1	0	MAML1	179134362	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.336000	0.65935	2.469000	0.83416	0.555000	0.69702	CAG		0.632	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757	
SDHA	6389	broad.mit.edu	37	5	228384	228384	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:228384G>A	ENST00000264932.6	+	6	821	c.706G>A	c.(706-708)Gca>Aca	p.A236T	SDHA_ENST00000504309.1_Missense_Mutation_p.A236T|SDHA_ENST00000510361.1_Missense_Mutation_p.A188T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	236					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.A236T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGGTGTCATCGCACTGTGCAT	0.428									Familial Paragangliomas																												p.A236T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706A	5						.						98.0	90.0	93.0					5																	228384		2203	4300	6503	281384	SO:0001583	missense	6389	exon6	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.706G>A	5.37:g.228384G>A	ENSP00000264932:p.Ala236Thr		281384	NM_004168	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	g	25.6	4.655673	0.88056	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.71222	-0.55;-0.55;-0.55	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.79947	0.4534	M	0.73753	2.245	0.80722	D	1	D;D;P;D;D	0.65815	0.964;0.995;0.831;0.982;0.982	P;P;B;P;P	0.54210	0.73;0.681;0.351;0.745;0.745	T	0.82900	-0.0228	10	0.87932	D	0	.	16.7213	0.85410	0.0:0.0:1.0:0.0	.	188;236;236;236;242	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	T	236;236;188	ENSP00000264932:A236T;ENSP00000426514:A236T;ENSP00000427703:A188T	ENSP00000264932:A236T	A	+	1	0	SDHA	281384	1.000000	0.71417	0.228000	0.23943	0.388000	0.30384	9.396000	0.97270	2.633000	0.89246	0.644000	0.83932	GCA		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168	
EXOC3	11336	broad.mit.edu	37	5	454128	454128	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:454128C>T	ENST00000512944.1	+	4	1197	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	EXOC3_ENST00000315013.5_Silent_p.I336I	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	347					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.I336I(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCAATGAGATCGTGAGCCTCT	0.542																																					p.I336I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008T	5						.						26.0	26.0	26.0					5																	454128		2057	4191	6248	507128	SO:0001819	synonymous_variant	11336	exon4			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1008C>T	5.37:g.454128C>T			507128	NM_007277	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Silent	SNP	ENST00000512944.1	37	CCDS54830.1																																																																																				0.542	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277	
ADAMTS16	170690	broad.mit.edu	37	5	5186219	5186219	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:5186219C>A	ENST00000274181.7	+	5	956	c.818C>A	c.(817-819)tCt>tAt	p.S273Y	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S273Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	273					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S273Y(2)		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						GAGTATAAGTCTTGCTTACGG	0.488																																					p.S273Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C818A	5						.						164.0	160.0	161.0					5																	5186219		1940	4159	6099	5239219	SO:0001583	missense	170690	exon5			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.818C>A	5.37:g.5186219C>A	ENSP00000274181:p.Ser273Tyr		5239219	NM_139056	C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.683308	0.00745	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.63417	0.03;-0.04	5.51	4.57	0.56435	.	0.458483	0.23230	N	0.050479	T	0.46541	0.1398	N	0.21373	0.66	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.0;0.005;0.002	T	0.33369	-0.9871	10	0.42905	T	0.14	.	10.6197	0.45472	0.3694:0.6306:0.0:0.0	.	273;273;273	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	Y	273	ENSP00000274181:S273Y;ENSP00000421631:S273Y	ENSP00000274181:S273Y	S	+	2	0	ADAMTS16	5239219	0.000000	0.05858	0.005000	0.12908	0.048000	0.14542	0.716000	0.25836	2.593000	0.87608	0.655000	0.94253	TCT		0.488	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056	
CDH18	1016	broad.mit.edu	37	5	19571871	19571871	+	Missense_Mutation	SNP	C	C	T	rs148450624		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:19571871C>T	ENST00000507958.1	-	10	2060	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	CDH18_ENST00000506372.1_Missense_Mutation_p.R357H|CDH18_ENST00000274170.4_Missense_Mutation_p.R357H|CDH18_ENST00000511273.1_Missense_Mutation_p.R357H|CDH18_ENST00000382275.1_Missense_Mutation_p.R357H|CDH18_ENST00000502796.1_Missense_Mutation_p.R357H			Q13634	CAD18_HUMAN	cadherin 18, type 2	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R357H(2)|p.R357P(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTGAGAAAAGCGAAAATCAAG	0.383																																					p.R357H												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G1070A	5						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	108.0	100.0	103.0		1070,1070	5.2	1.0	5	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CDH18	NM_001167667.1,NM_004934.3	29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	357/575,357/791	19571871	2,13004	2203	4300	6503	19607628	SO:0001583	missense	1016	exon8			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1070G>A	5.37:g.19571871C>T	ENSP00000425093:p.Arg357His		19607628	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609108	0.87258	0.0	2.33E-4	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.61274	0.2;0.2;0.2;0.17;0.17;0.34;0.12	5.17	5.17	0.71159	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78323	0.4265	M	0.83312	2.635	0.58432	D	0.999997	D;P	0.89917	1.0;0.932	D;P	0.97110	1.0;0.465	T	0.80011	-0.1561	9	.	.	.	.	17.5963	0.88013	0.0:1.0:0.0:0.0	.	357;357	B4DHG6;Q13634	.;CAD18_HUMAN	H	357;357;357;357;357;357;303;357	ENSP00000371710:R357H;ENSP00000425093:R357H;ENSP00000274170:R357H;ENSP00000424931:R357H;ENSP00000422138:R357H;ENSP00000427383:R303H;ENSP00000425854:R357H	.	R	-	2	0	CDH18	19607628	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.643000	0.67895	2.591000	0.87537	0.655000	0.94253	CGC		0.383	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH18	1016	broad.mit.edu	37	5	19747057	19747057	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:19747057C>A	ENST00000507958.1	-	6	1507	c.517G>T	c.(517-519)Gat>Tat	p.D173Y	CDH18_ENST00000506372.1_Missense_Mutation_p.D173Y|CDH18_ENST00000274170.4_Missense_Mutation_p.D173Y|CDH18_ENST00000511273.1_Missense_Mutation_p.D173Y|CDH18_ENST00000382275.1_Missense_Mutation_p.D173Y|CDH18_ENST00000502796.1_Missense_Mutation_p.D173Y			Q13634	CAD18_HUMAN	cadherin 18, type 2	173	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D173Y(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTACCCATATCTGACATTTCA	0.308																																					p.D173Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G517T	5						.						102.0	102.0	102.0					5																	19747057		2203	4300	6503	19782814	SO:0001583	missense	1016	exon4			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.517G>T	5.37:g.19747057C>A	ENSP00000425093:p.Asp173Tyr		19782814	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558860	0.65538	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	4.88	4.88	0.63580	Cadherin (4);Cadherin-like (1);	0.118209	0.56097	D	0.000028	T	0.52273	0.1724	L	0.38175	1.15	0.40401	D	0.979645	D;D	0.56035	0.974;0.965	P;P	0.55222	0.771;0.554	T	0.50499	-0.8821	9	.	.	.	.	16.587	0.84729	0.0:1.0:0.0:0.0	.	173;173	B4DHG6;Q13634	.;CAD18_HUMAN	Y	173;173;173;173;173;173;119;173	ENSP00000371710:D173Y;ENSP00000425093:D173Y;ENSP00000274170:D173Y;ENSP00000424931:D173Y;ENSP00000422138:D173Y;ENSP00000427383:D119Y;ENSP00000425854:D173Y	.	D	-	1	0	CDH18	19782814	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	4.592000	0.61027	2.253000	0.74438	0.591000	0.81541	GAT		0.308	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH18	1016	broad.mit.edu	37	5	19747140	19747140	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:19747140A>C	ENST00000507958.1	-	6	1424	c.434T>G	c.(433-435)tTc>tGc	p.F145C	CDH18_ENST00000506372.1_Missense_Mutation_p.F145C|CDH18_ENST00000274170.4_Missense_Mutation_p.F145C|CDH18_ENST00000511273.1_Missense_Mutation_p.F145C|CDH18_ENST00000382275.1_Missense_Mutation_p.F145C|CDH18_ENST00000502796.1_Missense_Mutation_p.F145C			Q13634	CAD18_HUMAN	cadherin 18, type 2	145	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F145C(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTGATGATGAACTCGGATTC	0.408																																					p.F145C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T434G	5						.						198.0	183.0	188.0					5																	19747140		2203	4300	6503	19782897	SO:0001583	missense	1016	exon4			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.434T>G	5.37:g.19747140A>C	ENSP00000425093:p.Phe145Cys		19782897	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101789	0.56183	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.04	5.04	0.67666	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.92691	3.335	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85660	0.1288	9	.	.	.	.	13.6113	0.62080	1.0:0.0:0.0:0.0	.	145;145	B4DHG6;Q13634	.;CAD18_HUMAN	C	145;145;145;145;145;145;91;145	ENSP00000371710:F145C;ENSP00000425093:F145C;ENSP00000274170:F145C;ENSP00000424931:F145C;ENSP00000422138:F145C;ENSP00000427383:F91C;ENSP00000425854:F145C	.	F	-	2	0	CDH18	19782897	1.000000	0.71417	0.995000	0.50966	0.276000	0.26787	8.870000	0.92336	1.895000	0.54865	0.482000	0.46254	TTC		0.408	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
CDH12	1010	broad.mit.edu	37	5	21842391	21842391	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:21842391T>C	ENST00000382254.1	-	8	1779	c.693A>G	c.(691-693)gaA>gaG	p.E231E	CDH12_ENST00000522262.1_Silent_p.E191E|CDH12_ENST00000504376.2_Silent_p.E231E|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E231E(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTTGATATTGTTCTTTGACTT	0.383										HNSCC(59;0.17)																											p.E231E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A693G	5						.						249.0	200.0	217.0					5																	21842391		2203	4300	6503	21878148	SO:0001819	synonymous_variant	1010	exon8			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.693A>G	5.37:g.21842391T>C			21878148	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	CCDS3890.1																																																																																				0.383	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
CDH10	1008	broad.mit.edu	37	5	24492977	24492977	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:24492977A>C	ENST00000264463.4	-	10	2080	c.1573T>G	c.(1573-1575)Ttt>Gtt	p.F525V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	525	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F525V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAACTGAAAAAAAATTTCTGT	0.318										HNSCC(23;0.051)																											p.F525V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1573G	5						.						170.0	184.0	179.0					5																	24492977		2203	4297	6500	24528734	SO:0001583	missense	1008	exon10			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1573T>G	5.37:g.24492977A>C	ENSP00000264463:p.Phe525Val		24528734	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.010925	0.35511	.	.	ENSG00000040731	ENST00000264463	T	0.52057	0.68	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.116176	0.64402	D	0.000012	T	0.29652	0.0740	N	0.10972	0.075	0.44117	D	0.996891	B	0.21606	0.058	B	0.22753	0.041	T	0.09250	-1.0683	10	0.25751	T	0.34	.	14.0737	0.64877	1.0:0.0:0.0:0.0	.	525	Q9Y6N8	CAD10_HUMAN	V	525	ENSP00000264463:F525V	ENSP00000264463:F525V	F	-	1	0	CDH10	24528734	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.338000	0.59316	1.982000	0.57802	0.477000	0.44152	TTT		0.318	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH10	1008	broad.mit.edu	37	5	24509886	24509886	+	Missense_Mutation	SNP	C	C	T	rs138533676		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:24509886C>T	ENST00000264463.4	-	7	1552	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	349	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E349K(3)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTCTGCTTCGACTTTCAGA	0.378										HNSCC(23;0.051)																											p.E349K												.	.	3	Substitution - Missense(3)	large_intestine(2)|central_nervous_system(1)	c.G1045A	5						.	C	LYS/GLU	2,4404	2.1+/-5.4	0,2,2201	71.0	72.0	72.0		1045	5.0	1.0	5	dbSNP_134	72	0,8600		0,0,4300	no	missense	CDH10	NM_006727.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	349/789	24509886	2,13004	2203	4300	6503	24545643	SO:0001583	missense	1008	exon7			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1045G>A	5.37:g.24509886C>T	ENSP00000264463:p.Glu349Lys		24545643	NM_006727	Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973677	0.74246	4.54E-4	0.0	ENSG00000040731	ENST00000264463	T	0.01705	4.68	5.03	5.03	0.67393	Cadherin (5);Cadherin-like (1);	0.048877	0.85682	D	0.000000	T	0.07234	0.0183	L	0.56396	1.775	0.43164	D	0.994951	D	0.62365	0.991	P	0.59424	0.857	T	0.27297	-1.0078	10	0.42905	T	0.14	.	17.6996	0.88291	0.0:1.0:0.0:0.0	.	349	Q9Y6N8	CAD10_HUMAN	K	349	ENSP00000264463:E349K	ENSP00000264463:E349K	E	-	1	0	CDH10	24545643	0.990000	0.36364	0.997000	0.53966	0.879000	0.50718	2.869000	0.48444	2.502000	0.84385	0.561000	0.74099	GAA		0.378	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	
CDH9	1007	broad.mit.edu	37	5	26988293	26988293	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:26988293G>A	ENST00000231021.4	-	2	320	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	50					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R50C(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CGCTTGGTGCGACGTAGCATT	0.398																																					p.R50C	Melanoma(8;187 585 15745 40864 52829)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148T	5						.						122.0	117.0	119.0					5																	26988293		2203	4300	6503	27024050	SO:0001583	missense	1007	exon2			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.148C>T	5.37:g.26988293G>A	ENSP00000231021:p.Arg50Cys		27024050	NM_016279	Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834381	0.91036	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.00587	6.38;6.38;6.38	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.02156	0.0067	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.72849	-0.4168	9	.	.	.	.	18.2526	0.90009	0.0:0.0:1.0:0.0	.	50;50	E7EPN0;Q9ULB4	.;CADH9_HUMAN	C	50	ENSP00000231021:R50C;ENSP00000426239:R50C;ENSP00000422538:R50C	.	R	-	1	0	CDH9	27024050	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	9.039000	0.93777	2.652000	0.90054	0.591000	0.81541	CGC		0.398	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
DROSHA	29102	broad.mit.edu	37	5	31424572	31424572	+	Missense_Mutation	SNP	G	G	A	rs376727217		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:31424572G>A	ENST00000511367.2	-	27	3467	c.3223C>T	c.(3223-3225)Cgc>Tgc	p.R1075C	DROSHA_ENST00000344624.3_Missense_Mutation_p.R1075C|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1038C|DROSHA_ENST00000513349.1_Missense_Mutation_p.R1038C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1075	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R1075C(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CAGACTTCGCGCAGGTCCTGG	0.423																																					p.R1075C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3223T	5						.	G	CYS/ARG,CYS/ARG	0,3880		0,0,1940	102.0	103.0	103.0		3112,3223	4.5	1.0	5		103	2,8288		0,2,4143	no	missense,missense	DROSHA	NM_001100412.1,NM_013235.4	180,180	0,2,6083	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging	1038/1338,1075/1375	31424572	2,12168	1940	4145	6085	31460329	SO:0001583	missense	29102	exon27			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3223C>T	5.37:g.31424572G>A	ENSP00000425979:p.Arg1075Cys		31460329	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584736	0.65992	0.0	2.41E-4	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.48836	1.38;1.38;0.8;0.8	5.41	4.53	0.55603	Ribonuclease III (2);	0.056790	0.64402	D	0.000003	T	0.52757	0.1754	L	0.46157	1.445	0.80722	D	1	D;D	0.61080	0.989;0.985	P;P	0.53649	0.54;0.731	T	0.51284	-0.8725	10	0.37606	T	0.19	-16.8708	14.3878	0.66958	0.0:0.0:0.8526:0.1474	.	1038;1075	E7EMP9;Q9NRR4	.;RNC_HUMAN	C	1075;1075;1038;1038;1000;1031	ENSP00000425979:R1075C;ENSP00000339845:R1075C;ENSP00000409335:R1038C;ENSP00000424161:R1038C	ENSP00000265075:R1000C	R	-	1	0	DROSHA	31460329	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.193000	0.65120	1.384000	0.46424	0.650000	0.86243	CGC		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
DROSHA	29102	broad.mit.edu	37	5	31429604	31429604	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:31429604C>G	ENST00000511367.2	-	26	3438	c.3194G>C	c.(3193-3195)gGa>gCa	p.G1065A	DROSHA_ENST00000344624.3_Missense_Mutation_p.G1065A|DROSHA_ENST00000442743.1_Missense_Mutation_p.G1028A|DROSHA_ENST00000513349.1_Missense_Mutation_p.G1028A	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1065	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.G1065A(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GAGCAAGCGTCCAAATAACTG	0.353																																					p.G1065A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3194C	5						.						61.0	59.0	60.0					5																	31429604		1836	4086	5922	31465361	SO:0001583	missense	29102	exon26			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3194G>C	5.37:g.31429604C>G	ENSP00000425979:p.Gly1065Ala		31465361	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842706	0.51057	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	5.46	5.46	0.80206	Ribonuclease III (3);	0.000000	0.85682	D	0.000000	T	0.78136	0.4236	N	0.21282	0.65	0.80722	D	1	B;B	0.28605	0.217;0.131	B;B	0.26864	0.057;0.074	T	0.73820	-0.3862	10	0.31617	T	0.26	-18.3142	19.3123	0.94195	0.0:1.0:0.0:0.0	.	1028;1065	E7EMP9;Q9NRR4	.;RNC_HUMAN	A	1065;1065;1028;1028;990;1021	ENSP00000425979:G1065A;ENSP00000339845:G1065A;ENSP00000409335:G1028A;ENSP00000424161:G1028A	ENSP00000265075:G990A	G	-	2	0	DROSHA	31465361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.568000	0.73987	2.548000	0.85928	0.655000	0.94253	GGA		0.353	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
DROSHA	29102	broad.mit.edu	37	5	31451654	31451654	+	Missense_Mutation	SNP	G	G	A	rs267600599		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:31451654G>A	ENST00000511367.2	-	20	2912	c.2668C>T	c.(2668-2670)Cgt>Tgt	p.R890C	DROSHA_ENST00000344624.3_Missense_Mutation_p.R890C|DROSHA_ENST00000442743.1_Missense_Mutation_p.R853C|DROSHA_ENST00000513349.1_Missense_Mutation_p.R853C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	890	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R890C(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AACAGACAACGATCTTGGAAA	0.398																																					p.R890C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2668T	5						.						95.0	88.0	90.0					5																	31451654		1867	4115	5982	31487411	SO:0001583	missense	29102	exon20			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2668C>T	5.37:g.31451654G>A	ENSP00000425979:p.Arg890Cys		31487411	NM_013235	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314388	0.81358	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.49	5.49	0.81192	Ribonuclease III (3);	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.951	D	0.93459	0.6809	10	0.87932	D	0	-19.3767	15.4457	0.75228	0.0:0.0:0.8528:0.1472	.	853;890	E7EMP9;Q9NRR4	.;RNC_HUMAN	C	890;890;853;853;815;846	ENSP00000425979:R890C;ENSP00000339845:R890C;ENSP00000409335:R853C;ENSP00000424161:R853C	ENSP00000265075:R815C	R	-	1	0	DROSHA	31487411	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.269000	0.78482	2.734000	0.93682	0.555000	0.69702	CGT		0.398	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
PDZD2	23037	broad.mit.edu	37	5	31983673	31983673	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:31983673A>G	ENST00000438447.1	+	3	1277	c.889A>G	c.(889-891)Aca>Gca	p.T297A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T297A			O15018	PDZD2_HUMAN	PDZ domain containing 2	297					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.T297A(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AATTCCAAAGACAGATGCTCC	0.517																																					p.T297A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A889G	5						.						93.0	97.0	96.0					5																	31983673		2203	4300	6503	32019430	SO:0001583	missense	23037	exon2			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.889A>G	5.37:g.31983673A>G	ENSP00000402033:p.Thr297Ala		32019430	NM_178140	Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.291070	0.59976	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07114	3.22;3.22	5.47	-2.24	0.06909	.	0.153517	0.30800	N	0.008847	T	0.03348	0.0097	N	0.24115	0.695	0.31872	N	0.619625	B;P	0.46784	0.156;0.884	B;B	0.40602	0.039;0.334	T	0.41288	-0.9517	10	0.21014	T	0.42	.	0.3385	0.00329	0.4049:0.1444:0.1699:0.2807	.	123;297	B4E3P2;O15018	.;PDZD2_HUMAN	A	297	ENSP00000402033:T297A;ENSP00000282493:T297A	ENSP00000282493:T297A	T	+	1	0	PDZD2	32019430	0.280000	0.24249	0.978000	0.43139	0.958000	0.62258	0.240000	0.18042	0.048000	0.15891	0.528000	0.53228	ACA		0.517	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1		
NPR3	4883	broad.mit.edu	37	5	32712305	32712305	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:32712305G>A	ENST00000265074.8	+	1	766	c.423G>A	c.(421-423)gcG>gcA	p.A141A	NPR3_ENST00000415167.2_Silent_p.A141A|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	141					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.A141A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATGCAGCAGCGCCAGTGGCCC	0.682																																					p.A141A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G423A	5						.						47.0	53.0	51.0					5																	32712305		1945	4121	6066	32748062	SO:0001819	synonymous_variant	4883	exon1				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.423G>A	5.37:g.32712305G>A			32748062	NM_000908	A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	CCDS56357.1																																																																																				0.682	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	
TARS	6897	broad.mit.edu	37	5	33467054	33467054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:33467054C>T	ENST00000265112.3	+	18	2298	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	TARS_ENST00000455217.2_Nonsense_Mutation_p.R696*|TARS_ENST00000541634.1_Nonsense_Mutation_p.R559*|TARS_ENST00000502553.1_Nonsense_Mutation_p.R663*|TARS_ENST00000414361.2_Nonsense_Mutation_p.R542*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	663					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.R663*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAAGATTCGAAATGCACA	0.373																																					p.R663X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1987T	5						.						85.0	81.0	82.0					5																	33467054		2203	4300	6503	33502811	SO:0001587	stop_gained	6897	exon18			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1987C>T	5.37:g.33467054C>T	ENSP00000265112:p.Arg663*		33502811	NM_152295	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Nonsense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	c	39	7.596827	0.98381	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	.	.	.	5.62	3.22	0.36961	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7129	12.571	0.56337	0.725:0.275:0.0:0.0	.	.	.	.	X	663;663;559;696;542	.	ENSP00000265112:R663X	R	+	1	2	TARS	33502811	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.600000	0.46240	0.400000	0.25396	-0.262000	0.10625	CGA		0.373	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	
ADAMTS12	81792	broad.mit.edu	37	5	33527410	33527410	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:33527410C>A	ENST00000504830.1	-	24	5003	c.4668G>T	c.(4666-4668)aaG>aaT	p.K1556N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K1471N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1556	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAGAACATTTCTTCATGGCTT	0.468										HNSCC(64;0.19)																											p.K1556N												.	.	0			c.G4668T	5						.						172.0	156.0	162.0					5																	33527410		2203	4300	6503	33563167	SO:0001583	missense	81792	exon24			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4668G>T	5.37:g.33527410C>A	ENSP00000422554:p.Lys1556Asn		33563167	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694208	0.48202	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59364	0.27;0.27	5.93	3.99	0.46301	PLAC (1);	0.213896	0.46758	D	0.000270	T	0.49847	0.1581	L	0.44542	1.39	0.80722	D	1	P;P	0.44429	0.835;0.745	P;B	0.45232	0.474;0.282	T	0.41466	-0.9507	10	0.27082	T	0.32	.	8.5679	0.33552	0.0:0.7397:0.165:0.0953	.	1471;1556	P58397-3;P58397	.;ATS12_HUMAN	N	1556;1471	ENSP00000422554:K1556N;ENSP00000344847:K1471N	ENSP00000344847:K1471N	K	-	3	2	ADAMTS12	33563167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.425000	0.34859	1.444000	0.47605	0.655000	0.94253	AAG		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33549459	33549459	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:33549459C>A	ENST00000504830.1	-	21	4490	c.4155G>T	c.(4153-4155)aaG>aaT	p.K1385N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K1300N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1385	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K1385N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCGCGTATCTTGAAGCCCC	0.567										HNSCC(64;0.19)																											p.K1385N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4155T	5						.						85.0	95.0	91.0					5																	33549459		2203	4300	6503	33585216	SO:0001583	missense	81792	exon21			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4155G>T	5.37:g.33549459C>A	ENSP00000422554:p.Lys1385Asn		33585216	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902950	0.52227	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.62105	0.05;0.05	5.16	3.35	0.38373	.	0.213853	0.47852	D	0.000202	T	0.65375	0.2685	M	0.86740	2.835	0.80722	D	1	B;B	0.34290	0.447;0.322	B;B	0.36244	0.22;0.176	T	0.68243	-0.5460	10	0.54805	T	0.06	.	9.3083	0.37889	0.0:0.8242:0.0:0.1758	.	1300;1385	P58397-3;P58397	.;ATS12_HUMAN	N	1385;1300	ENSP00000422554:K1385N;ENSP00000344847:K1300N	ENSP00000344847:K1300N	K	-	3	2	ADAMTS12	33585216	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	1.221000	0.32503	1.167000	0.42706	0.650000	0.86243	AAG		0.567	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33577237	33577237	+	Missense_Mutation	SNP	C	C	T	rs563669246		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:33577237C>T	ENST00000504830.1	-	19	3229	c.2894G>A	c.(2893-2895)cGg>cAg	p.R965Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R880Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	965	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R965Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTGCGAATCCGCACTCCACC	0.493										HNSCC(64;0.19)																											p.R965Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2894A	5						.						94.0	90.0	91.0					5																	33577237		2203	4300	6503	33612994	SO:0001583	missense	81792	exon19			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2894G>A	5.37:g.33577237C>T	ENSP00000422554:p.Arg965Gln		33612994	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074513	0.76415	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.52754	0.65;0.65	5.28	5.28	0.74379	.	0.051693	0.64402	D	0.000001	T	0.43765	0.1262	N	0.02658	-0.545	0.80722	D	1	D;P	0.76494	0.999;0.622	D;B	0.69142	0.962;0.28	T	0.54997	-0.8209	10	0.24483	T	0.36	.	19.1111	0.93317	0.0:1.0:0.0:0.0	.	880;965	P58397-3;P58397	.;ATS12_HUMAN	Q	965;880	ENSP00000422554:R965Q;ENSP00000344847:R880Q	ENSP00000344847:R880Q	R	-	2	0	ADAMTS12	33612994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.634000	0.61325	2.756000	0.94617	0.655000	0.94253	CGG		0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	broad.mit.edu	37	5	33683975	33683975	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:33683975T>C	ENST00000504830.1	-	4	1155	c.820A>G	c.(820-822)Atc>Gtc	p.I274V	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.I274V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	274	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I274V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGTTCATGATGGTGAGGATG	0.463										HNSCC(64;0.19)																											p.I274V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A820G	5						.						117.0	109.0	111.0					5																	33683975		2203	4300	6503	33719732	SO:0001583	missense	81792	exon4			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.820A>G	5.37:g.33683975T>C	ENSP00000422554:p.Ile274Val		33719732	NM_030955	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	14.99	2.700571	0.48307	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.62639	0.01;0.01	5.21	4.03	0.46877	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.092036	0.85682	D	0.000000	T	0.53270	0.1786	N	0.17474	0.49	0.80722	D	1	D;P	0.54397	0.966;0.865	P;P	0.52514	0.701;0.669	T	0.45440	-0.9261	10	0.17832	T	0.49	.	12.6017	0.56501	0.0:0.0:0.1387:0.8613	.	274;274	P58397-3;P58397	.;ATS12_HUMAN	V	274	ENSP00000422554:I274V;ENSP00000344847:I274V	ENSP00000344847:I274V	I	-	1	0	ADAMTS12	33719732	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.828000	0.62730	1.085000	0.41206	-0.340000	0.08031	ATC		0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
RAI14	26064	broad.mit.edu	37	5	34824361	34824361	+	Missense_Mutation	SNP	C	C	T	rs576334657		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:34824361C>T	ENST00000265109.3	+	15	2701	c.2414C>T	c.(2413-2415)tCg>tTg	p.S805L	RAI14_ENST00000397449.1_Missense_Mutation_p.S798L|RAI14_ENST00000503673.1_Missense_Mutation_p.S805L|RAI14_ENST00000515799.1_Missense_Mutation_p.S808L|RAI14_ENST00000506376.1_Missense_Mutation_p.S797L|RAI14_ENST00000512629.1_Missense_Mutation_p.S776L|RAI14_ENST00000428746.2_Missense_Mutation_p.S805L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	805						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.S805L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GTGTTGGCATCGAAATTAAAG	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20522	0.0		0.0	False		,,,				2504	0.0				p.S776L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2327T	5						.						130.0	133.0	132.0					5																	34824361		2203	4300	6503	34860118	SO:0001583	missense	26064	exon14			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2414C>T	5.37:g.34824361C>T	ENSP00000265109:p.Ser805Leu		34860118	NM_001145522	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	1.131	-0.652374	0.03480	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.37411	1.25;1.2;1.25;1.25;1.24;1.28;1.27	5.48	1.8	0.24995	.	.	.	.	.	T	0.30355	0.0762	L	0.48362	1.52	0.09310	N	1	B;B;B;B	0.16603	0.007;0.008;0.018;0.01	B;B;B;B	0.12837	0.003;0.002;0.008;0.003	T	0.20638	-1.0269	9	0.35671	T	0.21	0.0086	9.9521	0.41645	0.0:0.7277:0.0:0.2723	.	797;776;808;805	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	L	805;776;805;805;808;797;798	ENSP00000265109:S805L;ENSP00000422377:S776L;ENSP00000388725:S805L;ENSP00000422942:S805L;ENSP00000427123:S808L;ENSP00000423854:S797L;ENSP00000380591:S798L	ENSP00000265109:S805L	S	+	2	0	RAI14	34860118	0.005000	0.15991	0.000000	0.03702	0.012000	0.07955	1.898000	0.39809	0.049000	0.15920	-0.234000	0.12200	TCG		0.408	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
TTC23L	153657	broad.mit.edu	37	5	34867058	34867058	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:34867058G>A	ENST00000505624.1	+	7	827	c.724G>A	c.(724-726)Gat>Aat	p.D242N	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	242								p.D242N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GGCAATTGGCGATGTTATTGC	0.498																																					p.D242N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G724A	5						.						58.0	56.0	57.0					5																	34867058		1952	4159	6111	34902815	SO:0001583	missense	153657	exon7				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.724G>A	5.37:g.34867058G>A	ENSP00000422188:p.Asp242Asn		34902815	NM_144725	Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	G	0.662	-0.805517	0.02819	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.73681	-0.77	5.14	-1.71	0.08133	Tetratricopeptide-like helical (1);	1.025300	0.07710	N	0.941854	T	0.44117	0.1278	N	0.03177	-0.4	0.09310	N	1	B;B;B	0.23128	0.002;0.08;0.001	B;B;B	0.14578	0.001;0.011;0.001	T	0.21861	-1.0233	10	0.27785	T	0.31	-27.5824	2.6257	0.04929	0.4103:0.1254:0.3511:0.1133	.	242;173;242	Q6PF05-2;B4DEX1;Q6PF05	.;.;TT23L_HUMAN	N	242	ENSP00000422188:D242N	ENSP00000425242:D242N	D	+	1	0	TTC23L	34902815	0.000000	0.05858	0.000000	0.03702	0.701000	0.40568	-0.146000	0.10250	-0.132000	0.11557	-0.471000	0.05019	GAT		0.498	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725	
PRLR	5618	broad.mit.edu	37	5	35065513	35065513	+	Missense_Mutation	SNP	T	T	C	rs147265072	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:35065513T>C	ENST00000382002.5	-	10	1973	c.1547A>G	c.(1546-1548)aAc>aGc	p.N516S	PRLR_ENST00000342362.5_Missense_Mutation_p.N415S|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.N415S|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	516					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)	p.N516S(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ACCATCTTTGTTGACCTTGTG	0.512																																					p.N516S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1547G	5						.						95.0	97.0	96.0					5																	35065513		2203	4300	6503	35101270	SO:0001583	missense	5618	exon10				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1547A>G	5.37:g.35065513T>C	ENSP00000371432:p.Asn516Ser		35101270	NM_000949	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286907	0.23478	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;D;D	0.90004	-2.6;-1.68;-2.6	5.77	0.624	0.17659	.	0.222050	0.52532	N	0.000077	T	0.77731	0.4174	L	0.27053	0.805	0.34153	D	0.667782	B;B	0.28233	0.13;0.204	B;B	0.27887	0.038;0.084	T	0.68500	-0.5392	10	0.29301	T	0.29	-15.0148	6.2436	0.20805	0.0:0.2933:0.1236:0.5831	.	516;415	P16471;P16471-2	PRLR_HUMAN;.	S	415;516;415	ENSP00000339213:N415S;ENSP00000371432:N516S;ENSP00000422556:N415S	ENSP00000339213:N415S	N	-	2	0	PRLR	35101270	1.000000	0.71417	0.989000	0.46669	0.837000	0.47467	1.027000	0.30115	-0.107000	0.12088	-0.316000	0.08728	AAC		0.512	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2		
SPEF2	79925	broad.mit.edu	37	5	35649490	35649490	+	Missense_Mutation	SNP	G	G	A	rs528551876		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:35649490G>A	ENST00000356031.3	+	6	908	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	SPEF2_ENST00000509059.1_Missense_Mutation_p.E252K|SPEF2_ENST00000440995.2_Missense_Mutation_p.E252K|SPEF2_ENST00000282469.6_Missense_Mutation_p.E252K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	252					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E252K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAGAAGTTCGAAGCATTAAT	0.318													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15903	0.0		0.0	False		,,,				2504	0.0				p.E252K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G754A	5						.						103.0	114.0	110.0					5																	35649490		2203	4300	6503	35685247	SO:0001583	missense	79925	exon6			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.754G>A	5.37:g.35649490G>A	ENSP00000348314:p.Glu252Lys		35685247	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874952	0.51695	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.45276	2.23;3.33;2.23;0.9;3.33	5.64	4.77	0.60923	.	0.048225	0.85682	N	0.000000	T	0.61489	0.2351	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.986;0.996;0.998	T	0.64884	-0.6302	10	0.72032	D	0.01	.	11.0193	0.47709	0.0864:0.0:0.9136:0.0	.	252;252;252	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	K	252;252;252;195;252	ENSP00000282469:E252K;ENSP00000348314:E252K;ENSP00000421593:E252K;ENSP00000426259:E195K;ENSP00000412125:E252K	ENSP00000282469:E252K	E	+	1	0	SPEF2	35685247	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	4.799000	0.62517	1.521000	0.48983	-0.291000	0.09656	GAA		0.318	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
SPEF2	79925	broad.mit.edu	37	5	35776377	35776377	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:35776377G>A	ENST00000356031.3	+	29	4251	c.4097G>A	c.(4096-4098)cGa>cAa	p.R1366Q	SPEF2_ENST00000440995.2_Missense_Mutation_p.R1361Q|SPEF2_ENST00000303129.4_5'Flank|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1366					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.R1366Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACGCAATTTCGACTTGAACTG	0.343																																					p.R1366Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4097A	5						.						119.0	115.0	117.0					5																	35776377		1836	4089	5925	35812134	SO:0001583	missense	79925	exon29			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4097G>A	5.37:g.35776377G>A	ENSP00000348314:p.Arg1366Gln		35812134	NM_024867	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.460083	0.63401	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.25912	1.77;1.78	5.66	4.79	0.61399	.	0.075454	0.53938	D	0.000046	T	0.47358	0.1441	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.43845	-0.9366	10	0.49607	T	0.09	.	13.9696	0.64230	0.0:0.1519:0.8481:0.0	.	1361;1366	Q9C093-2;Q9C093	.;SPEF2_HUMAN	Q	1366;1361	ENSP00000348314:R1366Q;ENSP00000412125:R1361Q	ENSP00000348314:R1366Q	R	+	2	0	SPEF2	35812134	1.000000	0.71417	0.987000	0.45799	0.472000	0.32918	5.694000	0.68272	1.392000	0.46585	0.455000	0.32223	CGA		0.343	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722	
IL7R	3575	broad.mit.edu	37	5	35867423	35867423	+	Missense_Mutation	SNP	G	G	T	rs552630274		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:35867423G>T	ENST00000303115.3	+	3	366	c.237G>T	c.(235-237)gaG>gaT	p.E79D	IL7R_ENST00000506850.1_Missense_Mutation_p.E79D|IL7R_ENST00000511982.1_Missense_Mutation_p.E79D|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000343305.4_Missense_Mutation_p.E79D	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	79					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.E79D(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCCTCGTGGAGGTAAAGTGCC	0.393			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						G|||	1	0.000199681	0.0	0.0	5008	,	,		16904	0.0		0.0	False		,,,				2504	0.001				p.E79D			Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G237T	5						.						78.0	80.0	80.0					5																	35867423		2203	4300	6503	35903180	SO:0001583	missense	3575	exon3			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.237G>T	5.37:g.35867423G>T	ENSP00000306157:p.Glu79Asp		35903180	NM_002185	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.925007	0.34002	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.51	-11.0	0.00169	.	1.593590	0.03152	N	0.168099	T	0.44829	0.1312	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19811	-1.0294	10	0.22109	T	0.4	-9.4884	4.6562	0.12618	0.1351:0.0748:0.2448:0.5452	.	79;79	D6RGV2;P16871	.;IL7RA_HUMAN	D	79	ENSP00000306157:E79D;ENSP00000345819:E79D;ENSP00000421207:E79D;ENSP00000425309:E79D	ENSP00000306157:E79D	E	+	3	2	IL7R	35903180	0.000000	0.05858	0.000000	0.03702	0.303000	0.27691	-2.114000	0.01329	-1.587000	0.01630	0.650000	0.86243	GAG		0.393	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		
CAPSL	133690	broad.mit.edu	37	5	35910613	35910613	+	Missense_Mutation	SNP	C	C	T	rs199837654		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:35910613C>T	ENST00000397367.2	-	3	296	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	CAPSL_ENST00000514524.1_Missense_Mutation_p.R57Q|CAPSL_ENST00000397366.1_Missense_Mutation_p.R57Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	57	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R57Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			ATCAAGGGTTCGATTATTATC	0.308																																					p.R57Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G170A	5						.	C	GLN/ARG,GLN/ARG	1,4401		0,1,2200	58.0	61.0	60.0		170,170	4.4	1.0	5		60	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CAPSL	NM_001042625.1,NM_144647.3	43,43	0,3,6498	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging	57/209,57/209	35910613	3,12999	2201	4300	6501	35946370	SO:0001583	missense	133690	exon3			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.170G>A	5.37:g.35910613C>T	ENSP00000380524:p.Arg57Gln		35946370	NM_144647		Missense_Mutation	SNP	ENST00000397367.2	37	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741173	0.49151	2.27E-4	2.33E-4	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.67345	-0.26;-0.26;-0.26;0.57	5.26	4.39	0.52855	EF-hand-like domain (1);	0.111607	0.56097	D	0.000024	T	0.58395	0.2119	M	0.62088	1.915	0.46849	D	0.999225	B	0.32620	0.378	B	0.24701	0.055	T	0.61569	-0.7036	10	0.46703	T	0.11	-8.7212	9.6328	0.39789	0.0:0.8442:0.0:0.1558	.	57	Q8WWF8	CAPSL_HUMAN	Q	57	ENSP00000380524:R57Q;ENSP00000380523:R57Q;ENSP00000424806:R57Q;ENSP00000421018:R57Q	ENSP00000380523:R57Q	R	-	2	0	CAPSL	35946370	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.677000	0.54619	2.454000	0.82982	0.407000	0.27541	CGA		0.308	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647	
RANBP3L	202151	broad.mit.edu	37	5	36253817	36253817	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:36253817T>G	ENST00000296604.3	-	12	1584	c.1099A>C	c.(1099-1101)Aac>Cac	p.N367H	RANBP3L_ENST00000502994.1_Missense_Mutation_p.N392H	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	367	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)			p.N367H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TTTTTGTGGTTTGCTCTTTGA	0.363																																					p.N367H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1099C	5						.						186.0	170.0	175.0					5																	36253817		2203	4299	6502	36289574	SO:0001583	missense	202151	exon12			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1099A>C	5.37:g.36253817T>G	ENSP00000296604:p.Asn367His		36289574	NM_145000	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856389	0.71834	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.43688	0.94;0.94	5.18	4.01	0.46588	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.226724	0.38720	N	0.001584	T	0.59432	0.2193	M	0.71036	2.16	0.80722	D	1	P;D	0.69078	0.701;0.997	P;D	0.69479	0.497;0.964	T	0.61282	-0.7094	10	0.72032	D	0.01	-6.3038	10.1059	0.42533	0.0:0.0815:0.0:0.9185	.	392;367	E9PGP9;Q86VV4	.;RNB3L_HUMAN	H	367;392	ENSP00000296604:N367H;ENSP00000421853:N392H	ENSP00000296604:N367H	N	-	1	0	RANBP3L	36289574	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.482000	0.66833	0.912000	0.36772	0.455000	0.32223	AAC		0.363	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000	
NIPBL	25836	broad.mit.edu	37	5	37064109	37064109	+	Intron	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:37064109C>T	ENST00000282516.8	+	46	8548				NIPBL_ENST00000448238.2_Missense_Mutation_p.S2693L	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.S2693L(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAACGTATTTCGCAGCGTATT	0.378																																					p.S2693L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8078T	5						.						194.0	210.0	205.0					5																	37064109		2203	4300	6503	37099866	SO:0001627	intron_variant	25836	exon46			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8049+29C>T	5.37:g.37064109C>T			37099866	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.98|12.98	2.099020|2.099020	0.37048|0.37048	.|.	.|.	ENSG00000164190|ENSG00000164190	ENST00000507919|ENST00000448238	.|D	.|0.92911	.|-3.13	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|.	.|.	.|.	.|.	D|D	0.90659|0.90659	0.7070|0.7070	N|N	0.08118|0.08118	0|0	0.35678|0.35678	D|D	0.813847|0.813847	.|D	.|0.69078	.|0.997	.|D	.|0.66847	.|0.947	D|D	0.91680|0.91680	0.5357|0.5357	5|8	.|.	.|.	.|.	.|.	17.5743|17.5743	0.87944|0.87944	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2693	.|Q6KC79-2	.|.	C|L	199|2693	.|ENSP00000406266:S2693L	.|.	R|S	+|+	1|2	0|0	NIPBL|NIPBL	37099866|37099866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.116000|4.116000	0.57871|0.57871	2.583000|2.583000	0.87209|0.87209	0.591000|0.591000	0.81541|0.81541	CGC|TCG		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
C5orf42	65250	broad.mit.edu	37	5	37169135	37169135	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:37169135C>T	ENST00000508244.1	-	33	7084	c.6991G>A	c.(6991-6993)Gac>Aac	p.D2331N	C5orf42_ENST00000274258.7_Missense_Mutation_p.D1211N|C5orf42_ENST00000425232.2_Missense_Mutation_p.D2331N			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2331						integral component of membrane (GO:0016021)		p.D2331N(1)|p.D1211N(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACTGAAGAGTCCTGTTGAGGT	0.388																																					p.D2331N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6991A	5						.						138.0	142.0	141.0					5																	37169135		2203	4300	6503	37204892	SO:0001583	missense	65250	exon34				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6991G>A	5.37:g.37169135C>T	ENSP00000421690:p.Asp2331Asn		37204892	NM_023073	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296662	0.23650	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.27402	1.72;1.72;1.67;1.69	5.43	3.65	0.41850	.	0.460663	0.18445	N	0.141027	T	0.23766	0.0575	L	0.47190	1.495	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.18871	0.023;0.023	T	0.24333	-1.0163	10	0.49607	T	0.09	.	3.9092	0.09196	0.1322:0.6065:0.1449:0.1164	.	2331;1211	E9PH94;Q9H799	.;CE042_HUMAN	N	2331;2331;1211;1379;1211	ENSP00000421690:D2331N;ENSP00000389014:D2331N;ENSP00000274258:D1211N;ENSP00000424223:D1379N	ENSP00000274258:D1211N	D	-	1	0	C5orf42	37204892	0.868000	0.29978	0.290000	0.24890	0.012000	0.07955	0.734000	0.26101	0.655000	0.30866	0.655000	0.94253	GAC		0.388	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
LIFR	3977	broad.mit.edu	37	5	38490301	38490301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:38490301C>A	ENST00000263409.4	-	15	2320	c.2158G>T	c.(2158-2160)Gaa>Taa	p.E720*	LIFR_ENST00000453190.2_Nonsense_Mutation_p.E720*|LIFR_ENST00000503088.1_5'Flank	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	720					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.E720*(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCCAATTCTTCTATATATCCA	0.303			T	PLAG1	salivary adenoma																																p.E720X	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G2158T	5						.						83.0	91.0	88.0					5																	38490301		2202	4288	6490	38526058	SO:0001587	stop_gained	3977	exon15			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2158G>T	5.37:g.38490301C>A	ENSP00000263409:p.Glu720*		38526058	NM_001127671	Q6LCD9	Nonsense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	40	8.021572	0.98613	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	.	.	.	5.9	4.12	0.48240	.	0.333305	0.36591	N	0.002510	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-26.3843	8.2792	0.31889	0.0:0.7435:0.0:0.2565	.	.	.	.	X	720	.	ENSP00000263409:E720X	E	-	1	0	LIFR	38526058	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.227000	0.32576	1.508000	0.48769	-0.157000	0.13467	GAA		0.303	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
LIFR	3977	broad.mit.edu	37	5	38506127	38506127	+	Missense_Mutation	SNP	C	C	T	rs373421600		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:38506127C>T	ENST00000263409.4	-	9	1333	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	LIFR_ENST00000453190.2_Missense_Mutation_p.E391K|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	391	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.E391K(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGATAGCTTTCGTTTGTAGGT	0.289			T	PLAG1	salivary adenoma																																p.E391K	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1171A	5						.	C	LYS/GLU,LYS/GLU	0,4404		0,0,2202	58.0	62.0	61.0		1171,1171	4.6	0.9	5		61	1,8581	1.2+/-3.3	0,1,4290	no	missense,missense	LIFR	NM_002310.5,NM_001127671.1	56,56	0,1,6492	TT,TC,CC		0.0117,0.0,0.0077	benign,benign	391/1098,391/1098	38506127	1,12985	2202	4291	6493	38541884	SO:0001583	missense	3977	exon9			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1171G>A	5.37:g.38506127C>T	ENSP00000263409:p.Glu391Lys		38541884	NM_001127671	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	8.039	0.763543	0.15914	0.0	1.17E-4	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.36878	1.23;1.23	5.45	4.58	0.56647	Fibronectin, type III (3);Immunoglobulin-like fold (1);	5.593940	0.00166	N	0.000000	T	0.36248	0.0960	L	0.52759	1.655	0.27649	N	0.947447	B	0.15141	0.012	B	0.09377	0.004	T	0.31668	-0.9935	10	0.16896	T	0.51	-12.7138	8.7598	0.34667	0.0:0.8262:0.0:0.1738	.	391	P42702	LIFR_HUMAN	K	391	ENSP00000263409:E391K;ENSP00000398368:E391K	ENSP00000263409:E391K	E	-	1	0	LIFR	38541884	0.592000	0.26832	0.909000	0.35828	0.134000	0.20937	1.496000	0.35638	1.292000	0.44672	0.655000	0.94253	GAA		0.289	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
LIFR	3977	broad.mit.edu	37	5	38510575	38510575	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:38510575A>C	ENST00000263409.4	-	7	1144	c.982T>G	c.(982-984)Ttt>Gtt	p.F328V	LIFR_ENST00000453190.2_Missense_Mutation_p.F328V|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	328					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.F328V(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CATCCAGCAAAAATAACGGTT	0.363			T	PLAG1	salivary adenoma																																p.F328V	Melanoma(13;4 730 6426 9861 34751)		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T982G	5						.						62.0	62.0	62.0					5																	38510575		2203	4300	6503	38546332	SO:0001583	missense	3977	exon7			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.982T>G	5.37:g.38510575A>C	ENSP00000263409:p.Phe328Val		38546332	NM_001127671	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222560	0.58668	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.65916	-0.18;-0.18	5.65	5.65	0.86999	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	M	0.87456	2.885	0.50313	D	0.999861	D	0.89917	1.0	D	0.91635	0.999	T	0.79909	-0.1604	10	0.30078	T	0.28	-30.168	12.2607	0.54649	1.0:0.0:0.0:0.0	.	328	P42702	LIFR_HUMAN	V	328	ENSP00000263409:F328V;ENSP00000398368:F328V	ENSP00000263409:F328V	F	-	1	0	LIFR	38546332	1.000000	0.71417	0.996000	0.52242	0.413000	0.31143	5.234000	0.65343	2.150000	0.67090	0.533000	0.62120	TTT		0.363	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
OSMR	9180	broad.mit.edu	37	5	38932976	38932976	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:38932976G>T	ENST00000274276.3	+	18	2772	c.2370G>T	c.(2368-2370)gaG>gaT	p.E790D		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	790					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.E790D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTTTCTAGGAGAACCCTCACC	0.363																																					p.E790D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2370T	5						.						52.0	53.0	53.0					5																	38932976		2203	4300	6503	38968733	SO:0001583	missense	9180	exon18			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2370G>T	5.37:g.38932976G>T	ENSP00000274276:p.Glu790Asp		38968733	NM_003999	Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	7.047	0.563710	0.13498	.	.	ENSG00000145623	ENST00000274276	T	0.43294	0.95	5.89	1.95	0.26073	.	1.228240	0.05463	N	0.551624	T	0.32971	0.0847	L	0.51422	1.61	0.09310	N	1	P	0.48764	0.915	B	0.40165	0.321	T	0.18023	-1.0350	10	0.17832	T	0.49	.	3.585	0.07967	0.1655:0.1628:0.5515:0.1201	.	790	Q99650	OSMR_HUMAN	D	790	ENSP00000274276:E790D	ENSP00000274276:E790D	E	+	3	2	OSMR	38968733	0.790000	0.28787	0.522000	0.27862	0.501000	0.33797	0.393000	0.20817	0.362000	0.24319	0.655000	0.94253	GAG		0.363	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999	
RICTOR	253260	broad.mit.edu	37	5	38982000	38982000	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:38982000C>T	ENST00000357387.3	-	8	752	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.R241Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.R241Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CACATACTGTCGAGTCTTTGG	0.303																																					p.R241Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G722A	5						.						115.0	119.0	118.0					5																	38982000		2203	4300	6503	39017757	SO:0001583	missense	253260	exon8				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.722G>A	5.37:g.38982000C>T	ENSP00000349959:p.Arg241Gln		39017757	NM_152756		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519841	0.96416	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.65916	-0.18;-0.18	4.98	4.98	0.66077	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81922	0.4925	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.97110	0.986;0.999;1.0;0.986	D	0.85476	0.1176	10	0.87932	D	0	-8.0215	18.2527	0.90009	0.0:1.0:0.0:0.0	.	241;241;241;241	Q8N6M7;E7ETT0;Q6R327;Q6R327-3	.;.;RICTR_HUMAN;.	Q	241	ENSP00000349959:R241Q;ENSP00000296782:R241Q	ENSP00000296782:R241Q	R	-	2	0	RICTOR	39017757	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.344000	0.79328	2.300000	0.77407	0.467000	0.42956	CGA		0.303	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756	
DAB2	1601	broad.mit.edu	37	5	39383254	39383254	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:39383254C>T	ENST00000320816.6	-	10	1274	c.807G>A	c.(805-807)acG>acA	p.T269T	DAB2_ENST00000545653.1_Silent_p.T248T|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000509337.1_Silent_p.T248T|DAB2_ENST00000339788.6_Intron	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	269	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.T269T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ATGCCTGAGGCGTTGGTCGAG	0.448																																					p.T269T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G807A	5						.						156.0	165.0	162.0					5																	39383254		2203	4300	6503	39419011	SO:0001819	synonymous_variant	1601	exon10			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.807G>A	5.37:g.39383254C>T			39419011	NM_001343	A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	CCDS34149.1																																																																																				0.448	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
C7	730	broad.mit.edu	37	5	40964858	40964858	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:40964858T>C	ENST00000313164.9	+	14	2124	c.1765T>C	c.(1765-1767)Ttt>Ctt	p.F589L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	589	CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.F589L(1)					Ovarian(839;0.0112)				AGGTACAATGTTTCCTGTGGG	0.363																																					p.F589L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1765C	5						.						149.0	147.0	147.0					5																	40964858		1880	4111	5991	41000615	SO:0001583	missense	730	exon14			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1765T>C	5.37:g.40964858T>C	ENSP00000322061:p.Phe589Leu		41000615	NM_000587	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008122	0.75046	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.68025	-0.3	6.04	4.86	0.63082	Complement control module (2);Sushi/SCR/CCP (3);	0.060852	0.64402	D	0.000002	T	0.64778	0.2629	M	0.69463	2.115	0.29068	N	0.883503	B	0.29612	0.251	B	0.26202	0.067	T	0.64019	-0.6505	10	0.66056	D	0.02	-27.6664	13.7049	0.62631	0.0:0.0:0.1282:0.8718	.	589	P10643	CO7_HUMAN	L	589;429	ENSP00000322061:F589L	ENSP00000322061:F589L	F	+	1	0	C7	41000615	1.000000	0.71417	0.832000	0.32986	0.736000	0.42039	3.537000	0.53590	1.072000	0.40860	0.460000	0.39030	TTT		0.363	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		
MROH2B	133558	broad.mit.edu	37	5	41015499	41015499	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:41015499G>T	ENST00000399564.4	-	29	3416	c.2966C>A	c.(2965-2967)tCt>tAt	p.S989Y	MROH2B_ENST00000506092.2_Missense_Mutation_p.S544Y	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	989								p.S989Y(1)									TATTTTAGAAGAAATCTTGAT	0.418																																					p.S989Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2966A	5						.						80.0	81.0	81.0					5																	41015499		1867	4089	5956	41051256	SO:0001583	missense	133558	exon29				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2966C>A	5.37:g.41015499G>T	ENSP00000382476:p.Ser989Tyr		41051256	NM_173489	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432376	0.43224	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.64618	-0.11;-0.11	5.9	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	0.227351	0.32002	N	0.006737	T	0.66167	0.2762	M	0.62723	1.935	0.30266	N	0.792688	D	0.63880	0.993	P	0.59487	0.858	T	0.60777	-0.7196	10	0.02654	T	1	.	10.8128	0.46557	0.0981:0.0:0.9019:0.0	.	989	Q7Z745	HTRB2_HUMAN	Y	544;694;989	ENSP00000441504:S544Y;ENSP00000382476:S989Y	ENSP00000296803:S694Y	S	-	2	0	HEATR7B2	41051256	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.840000	0.48215	2.806000	0.96561	0.655000	0.94253	TCT		0.418	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
C6	729	broad.mit.edu	37	5	41176764	41176764	+	Silent	SNP	C	C	T	rs146851023		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:41176764C>T	ENST00000263413.3	-	8	1245	c.981G>A	c.(979-981)acG>acA	p.T327T	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.T327T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	327	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.T327T(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTAGCTTTCGTTGTGAAGT	0.338																																					p.T327T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G981A	5						.	C	,	2,4404	2.1+/-5.4	0,2,2201	109.0	111.0	110.0		981,981	5.7	1.0	5	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C6	NM_000065.2,NM_001115131.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	327/935,327/935	41176764	2,13004	2203	4300	6503	41212521	SO:0001819	synonymous_variant	729	exon8			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.981G>A	5.37:g.41176764C>T			41212521	NM_000065		Silent	SNP	ENST00000263413.3	37	CCDS3936.1																																																																																				0.338	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
C6	729	broad.mit.edu	37	5	41195931	41195931	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:41195931A>G	ENST00000263413.3	-	5	814	c.550T>C	c.(550-552)Tat>Cat	p.Y184H	C6_ENST00000337836.5_Missense_Mutation_p.Y184H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	184	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.Y184H(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATGGGATTATACTTCCGTGTG	0.438																																					p.Y184H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T550C	5						.						299.0	262.0	274.0					5																	41195931		2203	4300	6503	41231688	SO:0001583	missense	729	exon5			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.550T>C	5.37:g.41195931A>G	ENSP00000263413:p.Tyr184His		41231688	NM_000065		Missense_Mutation	SNP	ENST00000263413.3	37	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319960	0.23994	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61158	0.13;0.13	5.65	1.89	0.25635	Membrane attack complex component/perforin (MACPF) domain (1);	0.659654	0.16489	N	0.212170	T	0.40956	0.1138	L	0.31476	0.935	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.21075	-1.0256	10	0.26408	T	0.33	-4.1864	8.6926	0.34275	0.5854:0.0:0.4146:0.0	.	184	P13671	CO6_HUMAN	H	184	ENSP00000338861:Y184H;ENSP00000263413:Y184H	ENSP00000263413:Y184H	Y	-	1	0	C6	41231688	0.109000	0.22037	0.001000	0.08648	0.192000	0.23643	1.594000	0.36697	0.083000	0.17047	0.528000	0.53228	TAT		0.438	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
OXCT1	5019	broad.mit.edu	37	5	41762269	41762269	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:41762269C>A	ENST00000196371.5	-	14	1442	c.1282G>T	c.(1282-1284)Gat>Tat	p.D428Y	OXCT1_ENST00000512084.1_Missense_Mutation_p.D31Y|OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.D242Y|OXCT1_ENST00000510634.1_Missense_Mutation_p.D31Y	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	428					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.D428Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GACACTAAATCCATAGCACCT	0.403																																					p.D428Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1282T	5						.						297.0	268.0	278.0					5																	41762269		2203	4300	6503	41798026	SO:0001583	missense	5019	exon14			U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.1282G>T	5.37:g.41762269C>A	ENSP00000196371:p.Asp428Tyr		41798026	NM_000436	B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568369	0.86439	.	.	ENSG00000083720	ENST00000196371;ENST00000512084;ENST00000510634;ENST00000509987	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	4.97	4.97	0.65823	3-oxoacid CoA-transferase, subunit B (1);	0.000000	0.85682	D	0.000000	D	0.98614	0.9536	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99737	1.1014	10	0.87932	D	0	-19.7396	17.3802	0.87402	0.0:1.0:0.0:0.0	.	428	P55809	SCOT1_HUMAN	Y	428;31;31;242	ENSP00000196371:D428Y;ENSP00000421143:D31Y;ENSP00000423144:D31Y;ENSP00000425348:D242Y	ENSP00000196371:D428Y	D	-	1	0	OXCT1	41798026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.063000	0.76714	2.436000	0.82500	0.655000	0.94253	GAT		0.403	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436	
C5orf34	375444	broad.mit.edu	37	5	43508741	43508741	+	Nonsense_Mutation	SNP	G	G	A	rs143336043	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:43508741G>A	ENST00000306862.2	-	3	598	c.223C>T	c.(223-225)Cga>Tga	p.R75*	RP11-159F24.3_ENST00000505645.1_RNA|RP11-159F24.6_ENST00000512498.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	75								p.R75*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAAGAGTTTCGAAAATCTAGG	0.289													G|||	2	0.000399361	0.0	0.0	5008	,	,		18001	0.001		0.001	False		,,,				2504	0.0				p.R75X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C223T	5						.	G	stop/ARG	0,4406		0,0,2203	84.0	99.0	94.0		223	3.3	1.0	5	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	C5orf34	NM_198566.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		75/639	43508741	1,13005	2203	4300	6503	43544498	SO:0001587	stop_gained	375444	exon3			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.223C>T	5.37:g.43508741G>A	ENSP00000303490:p.Arg75*		43544498	NM_198566		Nonsense_Mutation	SNP	ENST00000306862.2	37	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	G	37	6.582089	0.97680	0.0	1.16E-4	ENSG00000172244	ENST00000306862	.	.	.	5.35	3.27	0.37495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7736	13.9037	0.63821	0.0:0.0:0.7113:0.2887	.	.	.	.	X	75	.	ENSP00000303490:R75X	R	-	1	2	C5orf34	43544498	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.350000	0.34010	1.184000	0.42957	0.655000	0.94253	CGA		0.289	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566	
EMB	133418	broad.mit.edu	37	5	49695705	49695705	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:49695705C>T	ENST00000303221.5	-	8	1169	c.954G>A	c.(952-954)agG>agA	p.R318R	EMB_ENST00000514111.1_Silent_p.R268R|EMB_ENST00000508934.1_Silent_p.R264R	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	318					cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)	p.R318R(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTTTTCTATGCCTGGGGACAT	0.269																																					p.R318R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G954A	5						.						67.0	72.0	70.0					5																	49695705		2197	4280	6477	49731462	SO:0001819	synonymous_variant	133418	exon8			BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.954G>A	5.37:g.49695705C>T			49731462	NM_198449	B7Z6S3|B7Z902	Silent	SNP	ENST00000303221.5	37	CCDS3953.1																																																																																				0.269	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449	
EMB	133418	broad.mit.edu	37	5	49701563	49701563	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:49701563A>G	ENST00000303221.5	-	5	811	c.596T>C	c.(595-597)gTa>gCa	p.V199A	EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.V149A|EMB_ENST00000508934.1_Missense_Mutation_p.V145A	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	199	Ig-like V-type 2.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)	p.V199A(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TCTTACCTTTACACTCCCATT	0.328																																					p.V199A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T596C	5						.						64.0	66.0	65.0					5																	49701563		2203	4292	6495	49737320	SO:0001583	missense	133418	exon5			BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.596T>C	5.37:g.49701563A>G	ENSP00000302289:p.Val199Ala		49737320	NM_198449	B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	A	3.559	-0.090150	0.07053	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.68903	-0.36;-0.36;-0.36	5.25	-4.4	0.03600	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.541620	0.19219	N	0.119731	T	0.33177	0.0854	N	0.11364	0.135	0.09310	N	1	B;B	0.22746	0.028;0.074	B;B	0.20767	0.031;0.026	T	0.16867	-1.0388	9	.	.	.	-4.0294	2.6685	0.05059	0.3025:0.14:0.4205:0.137	.	145;199	D6RDX7;Q6PCB8	.;EMB_HUMAN	A	199;171;145;149	ENSP00000302289:V199A;ENSP00000425215:V145A;ENSP00000426404:V149A	.	V	-	2	0	EMB	49737320	0.000000	0.05858	0.670000	0.29842	0.513000	0.34164	0.230000	0.17852	-0.288000	0.09051	0.454000	0.30748	GTA		0.328	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449	
PARP8	79668	broad.mit.edu	37	5	50117113	50117113	+	Missense_Mutation	SNP	G	G	A	rs372763367		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:50117113G>A	ENST00000281631.5	+	16	1893	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	PARP8_ENST00000505554.1_Missense_Mutation_p.E558K|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Intron|PARP8_ENST00000503750.2_Intron|PARP8_ENST00000514342.2_Intron|PARP8_ENST00000505697.2_Missense_Mutation_p.E579K	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	579						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E579K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TGTGATTTTCGAGCCATATCC	0.403																																					p.E579K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1735A	5						.	G	LYS/GLU,,LYS/GLU	0,4406		0,0,2203	156.0	139.0	145.0		1735,,1735	5.6	1.0	5		145	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	PARP8	NM_001178055.1,NM_001178056.1,NM_024615.3	56,,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,,possibly-damaging	579/855,,579/855	50117113	1,13005	2203	4300	6503	50152870	SO:0001583	missense	79668	exon17			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1735G>A	5.37:g.50117113G>A	ENSP00000281631:p.Glu579Lys		50152870	NM_001178055	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749679	0.89753	0.0	1.16E-4	ENSG00000151883	ENST00000505697;ENST00000281631;ENST00000505554	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.99;0.997	B;P	0.47206	0.444;0.541	T	0.52215	-0.8605	8	.	.	.	-22.1647	20.0044	0.97430	0.0:0.0:1.0:0.0	.	471;579	B4DQ81;Q8N3A8	.;PARP8_HUMAN	K	579;579;558	.	.	E	+	1	0	PARP8	50152870	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.813000	0.99286	2.809000	0.96659	0.555000	0.69702	GAG		0.403	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	
FST	10468	broad.mit.edu	37	5	52780097	52780097	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:52780097G>A	ENST00000256759.3	+	4	1078	c.695G>A	c.(694-696)gGa>gAa	p.G232E	FST_ENST00000396947.3_Missense_Mutation_p.G232E	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	232	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)	p.G232E(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AGATCTATTGGATTAGCCTAT	0.453																																					p.G232E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G695A	5						.						66.0	64.0	65.0					5																	52780097		2203	4300	6503	52815854	SO:0001583	missense	10468	exon4			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.695G>A	5.37:g.52780097G>A	ENSP00000256759:p.Gly232Glu		52815854	NM_013409	B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	CCDS3959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.428890|5.428890	0.96131|0.96131	.|.	.|.	ENSG00000134363|ENSG00000134363	ENST00000497789|ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	.|T;T;T	.|0.03951	.|3.75;3.75;3.75	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Proteinase inhibitor I1, Kazal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.15998|0.15998	0.0385|0.0385	L|L	0.42581|0.42581	1.335|1.335	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.11446|0.11446	-1.0587|-1.0587	5|10	.|0.14252	.|T	.|0.57	-18.5979|-18.5979	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|232	.|P19883	.|FST_HUMAN	N|E	18|232;232;232;104	.|ENSP00000256759:G232E;ENSP00000380151:G232E;ENSP00000426315:G104E	.|ENSP00000256759:G232E	D|G	+|+	1|2	0|0	FST|FST	52815854|52815854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.776000|9.776000	0.99001|0.99001	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.453	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409	
GZMA	3001	broad.mit.edu	37	5	54401395	54401395	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:54401395C>A	ENST00000274306.6	+	2	199	c.164C>A	c.(163-165)gCt>gAt	p.A55D		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	55	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.A55D(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCATCTGTGCTGGGGCTTTG	0.383																																					p.A55D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C164A	5						.						103.0	95.0	98.0					5																	54401395		2203	4300	6503	54437152	SO:0001583	missense	3001	exon2				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.164C>A	5.37:g.54401395C>A	ENSP00000274306:p.Ala55Asp		54437152	NM_006144	A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853416	0.51270	.	.	ENSG00000145649	ENST00000274306	D	0.89123	-2.47	5.07	-0.209	0.13180	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.115998	0.64402	D	0.000020	D	0.90342	0.6978	L	0.41079	1.255	0.40288	D	0.978473	D	0.67145	0.996	P	0.58520	0.84	D	0.90391	0.4395	10	0.87932	D	0	.	20.4443	0.99122	0.0:0.2249:0.7751:0.0	.	55	P12544	GRAA_HUMAN	D	55	ENSP00000274306:A55D	ENSP00000274306:A55D	A	+	2	0	GZMA	54437152	0.989000	0.36119	0.983000	0.44433	0.462000	0.32619	1.271000	0.33098	-0.002000	0.14469	-0.150000	0.13652	GCT		0.383	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144	
SKIV2L2	23517	broad.mit.edu	37	5	54639221	54639221	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:54639221C>A	ENST00000230640.5	+	8	1098	c.844C>A	c.(844-846)Ctt>Att	p.L282I	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L181I	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	282	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTATGTCTTTCTTTCGGCTAC	0.338																																					p.L282I	Melanoma(2;92 134 23744 29976 33782)											.	.	0			c.C844A	5						.						143.0	141.0	142.0					5																	54639221		2203	4300	6503	54674978	SO:0001583	missense	23517	exon8			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.844C>A	5.37:g.54639221C>A	ENSP00000230640:p.Leu282Ile		54674978	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047910	0.93740	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.16897	2.31;2.31	5.93	5.93	0.95920	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.136464	0.51477	D	0.000099	T	0.62913	0.2467	H	0.98577	4.27	0.80722	D	1	D;D	0.63880	0.966;0.993	P;D	0.77004	0.86;0.989	T	0.77563	-0.2541	10	0.87932	D	0	-1.0032	19.95	0.97195	0.0:1.0:0.0:0.0	.	181;282	F5H7E2;P42285	.;SK2L2_HUMAN	I	282;181	ENSP00000230640:L282I;ENSP00000442583:L181I	ENSP00000230640:L282I	L	+	1	0	SKIV2L2	54674978	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.054000	0.57434	2.812000	0.96745	0.555000	0.69702	CTT		0.338	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
SKIV2L2	23517	broad.mit.edu	37	5	54674178	54674178	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:54674178T>C	ENST00000230640.5	+	17	2101	c.1847T>C	c.(1846-1848)gTa>gCa	p.V616A	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.V515A	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	616					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V616A(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AATAAAATAGTAATTCCCAAT	0.279																																					p.V616A	Melanoma(2;92 134 23744 29976 33782)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1847C	5						.						45.0	50.0	48.0					5																	54674178		2198	4291	6489	54709935	SO:0001583	missense	23517	exon17			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1847T>C	5.37:g.54674178T>C	ENSP00000230640:p.Val616Ala		54709935	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	T	5.693	0.312426	0.10789	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.28666	1.6;1.6	5.84	3.15	0.36227	.	0.366498	0.31323	N	0.007850	T	0.17619	0.0423	L	0.35644	1.08	0.31330	N	0.684975	B;B	0.21147	0.052;0.001	B;B	0.17433	0.018;0.003	T	0.18147	-1.0346	10	0.09084	T	0.74	-12.0007	4.8751	0.13653	0.2279:0.149:0.0:0.6231	.	515;616	F5H7E2;P42285	.;SK2L2_HUMAN	A	616;515	ENSP00000230640:V616A;ENSP00000442583:V515A	ENSP00000230640:V616A	V	+	2	0	SKIV2L2	54709935	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.590000	0.36654	1.035000	0.39972	0.533000	0.62120	GTA		0.279	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
GPBP1	65056	broad.mit.edu	37	5	56546849	56546849	+	Silent	SNP	C	C	T	rs374117309		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:56546849C>T	ENST00000506184.2	+	10	2146	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	GPBP1_ENST00000454432.2_Silent_p.F367F|GPBP1_ENST00000538707.1_Silent_p.F354F|GPBP1_ENST00000511209.1_Silent_p.F339F|GPBP1_ENST00000514387.2_Silent_p.F176F|GPBP1_ENST00000424459.3_Silent_p.F367F|GPBP1_ENST00000264779.6_Silent_p.F354F			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	347					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		ACCGAAACTTCGATGAAAATG	0.353																																					p.F347F												.	.	0			c.C1041T	5						.	C	,,,	0,4404		0,0,2202	87.0	86.0	86.0		1017,1062,528,1041	-0.3	1.0	5		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPBP1	NM_001127235.2,NM_001127236.2,NM_001203246.1,NM_022913.3	,,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,	339/466,354/481,176/303,347/474	56546849	1,13003	2202	4300	6502	56582606	SO:0001819	synonymous_variant	65056	exon10				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1041C>T	5.37:g.56546849C>T			56582606	NM_022913	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	ENST00000506184.2	37	CCDS34162.1																																																																																				0.353	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913	
IPO11	51194	broad.mit.edu	37	5	61772556	61772556	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:61772556G>T	ENST00000325324.6	+	9	973	c.804G>T	c.(802-804)aaG>aaT	p.K268N	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.K308N	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	268					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.K268N(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GACTGGAAAAGACCATCATTC	0.254																																					p.K308N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G924T	5						.						68.0	76.0	73.0					5																	61772556		2191	4269	6460	61808313	SO:0001583	missense	51194	exon9			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.804G>T	5.37:g.61772556G>T	ENSP00000316651:p.Lys268Asn		61808313	NM_001134779	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678613	0.68042	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.72505	-0.66;-0.66	5.7	2.98	0.34508	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82618	0.5076	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.82281	-0.0535	10	0.72032	D	0.01	.	10.7893	0.46424	0.1962:0.0:0.8038:0.0	.	308;268	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	N	268;308	ENSP00000316651:K268N;ENSP00000386992:K308N	ENSP00000316651:K268N	K	+	3	2	IPO11	61808313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.054000	0.49908	0.352000	0.24053	0.561000	0.74099	AAG		0.254	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338	
HTR1A	3350	broad.mit.edu	37	5	63256305	63256305	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:63256305G>T	ENST00000323865.3	-	1	1475	c.1242C>A	c.(1240-1242)atC>atA	p.I414I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	414					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.I414I(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TACACTTAATGATCTTCTTAA	0.507																																					p.I414I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1242A	5						.						180.0	190.0	186.0					5																	63256305		2203	4300	6503	63292061	SO:0001819	synonymous_variant	3350	exon1			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1242C>A	5.37:g.63256305G>T			63292061	NM_000524	Q6LAE7	Silent	SNP	ENST00000323865.3	37	CCDS34168.1																																																																																				0.507	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524	
RNF180	285671	broad.mit.edu	37	5	63509722	63509722	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:63509722A>G	ENST00000389100.4	+	4	641	c.569A>G	c.(568-570)tAt>tGt	p.Y190C	RNF180_ENST00000296615.6_Missense_Mutation_p.Y190C|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	190					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y190C(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CGACCAACATATTTTGAGATG	0.443																																					p.Y190C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A569G	5						.						56.0	63.0	60.0					5																	63509722		2203	4300	6503	63545478	SO:0001583	missense	285671	exon4			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.569A>G	5.37:g.63509722A>G	ENSP00000373752:p.Tyr190Cys		63545478	NM_178532	Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	A	7.197	0.592729	0.13875	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.43294	0.95	6.08	-0.234	0.13074	.	0.855160	0.10527	N	0.664327	T	0.26376	0.0644	N	0.17474	0.49	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23084	-1.0198	10	0.51188	T	0.08	-1.3886	10.3005	0.43650	0.5656:0.0:0.4344:0.0	.	190;190	Q86T96;Q86T96-2	RN180_HUMAN;.	C	190	ENSP00000373752:Y190C	ENSP00000296615:Y190C	Y	+	2	0	RNF180	63545478	0.065000	0.20965	0.429000	0.26710	0.992000	0.81027	0.237000	0.17985	-0.040000	0.13580	-0.274000	0.10170	TAT		0.443	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532	
RGS7BP	401190	broad.mit.edu	37	5	63871640	63871640	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:63871640T>G	ENST00000334025.2	+	3	698	c.372T>G	c.(370-372)ctT>ctG	p.L124L	RNU6-294P_ENST00000364999.1_RNA|RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	124					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L124L(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TCTGTCGGCTTTACATCCAGC	0.428																																					p.L124L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T372G	5						.						102.0	99.0	100.0					5																	63871640		2203	4300	6503	63907396	SO:0001819	synonymous_variant	401190	exon3			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.372T>G	5.37:g.63871640T>G			63907396	NM_001029875	B7Z3X1	Silent	SNP	ENST00000334025.2	37	CCDS34170.1																																																																																				0.428	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875	
RGS7BP	401190	broad.mit.edu	37	5	63871725	63871725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:63871725C>T	ENST00000334025.2	+	3	783	c.457C>T	c.(457-459)Cga>Tga	p.R153*	RNU6-294P_ENST00000364999.1_RNA|RGS7BP_ENST00000508162.1_3'UTR	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	153					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R153*(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TCAGTTTCATCGAAAAGGTAT	0.393																																					p.R153X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C457T	5						.						111.0	112.0	111.0					5																	63871725		2203	4300	6503	63907481	SO:0001587	stop_gained	401190	exon3			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.457C>T	5.37:g.63871725C>T	ENSP00000334851:p.Arg153*		63907481	NM_001029875	B7Z3X1	Nonsense_Mutation	SNP	ENST00000334025.2	37	CCDS34170.1	.	.	.	.	.	.	.	.	.	.	C	38	7.152143	0.98099	.	.	ENSG00000186479	ENST00000334025	.	.	.	5.91	5.91	0.95273	.	0.052621	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.902	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	153	.	ENSP00000334851:R153X	R	+	1	2	RGS7BP	63907481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.214000	0.65236	2.793000	0.96121	0.655000	0.94253	CGA		0.393	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875	
CWC27	10283	broad.mit.edu	37	5	64079693	64079693	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:64079693C>T	ENST00000381070.3	+	4	500	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	CWC27_ENST00000508024.1_Missense_Mutation_p.R95W	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	95	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R95W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GCGTTTTAATCGGAGAGGACT	0.398																																					p.R95W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C283T	5						.						207.0	199.0	201.0					5																	64079693		2203	4300	6503	64115449	SO:0001583	missense	10283	exon4			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.283C>T	5.37:g.64079693C>T	ENSP00000370460:p.Arg95Trp		64115449	NM_005869	O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338524	0.81911	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.23754	1.89;1.89	5.45	3.57	0.40892	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.62295	0.2416	H	0.95645	3.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.985;0.999;1.0;1.0	T	0.74090	-0.3777	10	0.72032	D	0.01	.	14.0401	0.64669	0.3034:0.6966:0.0:0.0	.	95;95;95;95	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	W	95	ENSP00000370460:R95W;ENSP00000426802:R95W	ENSP00000370460:R95W	R	+	1	2	CWC27	64115449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.218000	0.32467	0.754000	0.32968	0.585000	0.79938	CGG		0.398	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869	
CWC27	10283	broad.mit.edu	37	5	64267621	64267621	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:64267621A>G	ENST00000381070.3	+	12	1351	c.1134A>G	c.(1132-1134)ggA>ggG	p.G378G	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	378					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.G378G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CAAAGAAGGGAACTTCCCGGG	0.383																																					p.G378G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1134G	5						.						54.0	55.0	54.0					5																	64267621		2203	4300	6503	64303377	SO:0001819	synonymous_variant	10283	exon12			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1134A>G	5.37:g.64267621A>G			64303377	NM_005869	O60529|O60530|Q96EM3	Silent	SNP	ENST00000381070.3	37	CCDS3982.2																																																																																				0.383	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869	
CENPK	64105	broad.mit.edu	37	5	64825024	64825024	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:64825024G>A	ENST00000396679.1	-	7	505	c.291C>T	c.(289-291)ttC>ttT	p.F97F	CENPK_ENST00000508421.1_Silent_p.F67F|CENPK_ENST00000242872.3_Silent_p.F97F|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000514814.1_Silent_p.F97F|CENPK_ENST00000510693.1_Silent_p.F67F	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	97		Breakpoint for translocation to form KMT2A/MLL1-CENPK oncogene.			CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.F97F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TCAGCTTTTGGAACTAGAATA	0.318																																					p.F97F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C291T	5						.						38.0	35.0	36.0					5																	64825024		2201	4295	6496	64860780	SO:0001819	synonymous_variant	64105	exon7			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.291C>T	5.37:g.64825024G>A			64860780	NM_022145	Q9H4L0	Silent	SNP	ENST00000396679.1	37	CCDS3984.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081508	0.36758	.	.	ENSG00000123219	ENST00000509397	.	.	.	5.52	3.55	0.40652	.	.	.	.	.	T	0.57110	0.2031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53878	-0.8376	4	.	.	.	-5.9545	8.354	0.32318	0.0:0.2994:0.57:0.1306	.	.	.	.	S	10	.	.	P	-	1	0	CENPK	64860780	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.661000	0.37408	1.410000	0.46936	0.655000	0.94253	CCA		0.318	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253971.2	NM_022145	
SGTB	54557	broad.mit.edu	37	5	64966133	64966133	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:64966133C>T	ENST00000381007.4	-	11	1090	c.855G>A	c.(853-855)gaG>gaA	p.E285E		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	285								p.E285E(1)		large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TTCTCAGTTGCTCTATAAGTT	0.448																																					p.E285E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G855A	5						.						187.0	180.0	182.0					5																	64966133		2203	4300	6503	65001889	SO:0001819	synonymous_variant	54557	exon11			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.855G>A	5.37:g.64966133C>T			65001889	NM_019072		Silent	SNP	ENST00000381007.4	37	CCDS3988.1																																																																																				0.448	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072	
SGTB	54557	broad.mit.edu	37	5	65016581	65016581	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:65016581T>G	ENST00000381007.4	-	2	289	c.54A>C	c.(52-54)caA>caC	p.Q18H	NLN_ENST00000380985.5_5'Flank|NLN_ENST00000502464.1_5'Flank	NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	18								p.Q18H(1)		large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		CCATCTGACTTTGTTCCCGTA	0.338																																					p.Q18H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A54C	5						.						108.0	108.0	108.0					5																	65016581		2203	4300	6503	65052337	SO:0001583	missense	54557	exon2			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.54A>C	5.37:g.65016581T>G	ENSP00000370395:p.Gln18His		65052337	NM_019072		Missense_Mutation	SNP	ENST00000381007.4	37	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.736732	0.69304	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.62941	-0.01;0.02	5.36	1.64	0.23874	.	0.110713	0.64402	D	0.000007	T	0.74450	0.3718	M	0.79805	2.47	0.58432	D	0.999993	D	0.89917	1.0	D	0.70935	0.971	T	0.72590	-0.4247	10	0.62326	D	0.03	-9.7533	7.296	0.26393	0.0:0.4212:0.0:0.5788	.	18	Q96EQ0	SGTB_HUMAN	H	18	ENSP00000370395:Q18H;ENSP00000421447:Q18H	ENSP00000370395:Q18H	Q	-	3	2	SGTB	65052337	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.342000	0.33919	0.326000	0.23384	0.455000	0.32223	CAA		0.338	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072	
ERBB2IP	55914	broad.mit.edu	37	5	65350751	65350751	+	Missense_Mutation	SNP	G	G	A	rs138617538		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:65350751G>A	ENST00000284037.5	+	21	3994	c.3605G>A	c.(3604-3606)cGa>cAa	p.R1202Q	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R1202Q|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R1202Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R1198Q|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R1202Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R1202Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R1202Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R1202Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R1202Q	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1202					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)	p.R1202Q(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAGTACTTCGACATATTGAA	0.323																																					p.R1202Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3605A	5						.						40.0	41.0	41.0					5																	65350751		2197	4297	6494	65386507	SO:0001583	missense	55914	exon21				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3605G>A	5.37:g.65350751G>A	ENSP00000284037:p.Arg1202Gln		65386507	NM_018695	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	ENST00000284037.5	37	CCDS58953.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607651	0.87157	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.73047	0.17;0.36;0.41;0.31;0.78;0.26;0.36;-0.71;0.78	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.996;0.99;0.992;0.999;0.994	T	0.80471	-0.1368	10	0.72032	D	0.01	.	20.0275	0.97527	0.0:0.0:1.0:0.0	.	1202;1202;1202;1198;1202;1202;1202	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	Q	1202;1202;1202;1202;1202;1202;1198;1202;1202	ENSP00000284037:R1202Q;ENSP00000370330:R1202Q;ENSP00000370326:R1202Q;ENSP00000370323:R1202Q;ENSP00000370322:R1202Q;ENSP00000370325:R1202Q;ENSP00000422766:R1198Q;ENSP00000426632:R1202Q;ENSP00000422015:R1202Q	ENSP00000284037:R1202Q	R	+	2	0	ERBB2IP	65386507	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.089000	0.94137	2.737000	0.93849	0.650000	0.86243	CGA		0.323	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695	
MAST4	375449	broad.mit.edu	37	5	66427706	66427706	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:66427706T>G	ENST00000403625.2	+	16	2315	c.2020T>G	c.(2020-2022)Ttt>Gtt	p.F674V	MAST4_ENST00000405643.1_Missense_Mutation_p.F495V|MAST4_ENST00000403666.1_Missense_Mutation_p.F485V|MAST4_ENST00000404260.3_Missense_Mutation_p.F677V|MAST4_ENST00000261569.7_Missense_Mutation_p.F480V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	677	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.F677V(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGAATGTACTTTGCTGAGAC	0.388																																					p.F485V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1453G	5						.						146.0	145.0	145.0					5																	66427706		1865	4103	5968	66463462	SO:0001583	missense	375449	exon15			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2020T>G	5.37:g.66427706T>G	ENSP00000385727:p.Phe674Val		66463462	NM_015183	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	T	34	5.354655	0.95854	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	N	0.16903	0.455	0.58432	D	0.999995	P;D;D;P	0.89917	0.556;1.0;1.0;0.526	P;D;D;P	0.87578	0.738;0.997;0.998;0.687	T	0.73257	-0.4040	10	0.87932	D	0	-18.0562	16.6407	0.85098	0.0:0.0:0.0:1.0	.	495;677;480;485	E7EWQ5;O15021;O15021-2;O15021-3	.;MAST4_HUMAN;.;.	V	677;674;485;495;495;480;480	ENSP00000385048:F677V;ENSP00000385727:F674V;ENSP00000384313:F485V;ENSP00000384099:F495V;ENSP00000261569:F480V	ENSP00000261569:F480V	F	+	1	0	MAST4	66463462	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	TTT		0.388	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
MAP1B	4131	broad.mit.edu	37	5	71491238	71491238	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:71491238A>C	ENST00000296755.7	+	5	2354	c.2056A>C	c.(2056-2058)Aaa>Caa	p.K686Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	686	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.K686Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		agaagtcaaaaaagagatcaa	0.363																																					p.K686Q	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2056C	5						.						39.0	45.0	43.0					5																	71491238		2184	4283	6467	71526994	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2056A>C	5.37:g.71491238A>C	ENSP00000296755:p.Lys686Gln		71526994	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.986872	0.35036	.	.	ENSG00000131711	ENST00000296755;ENST00000504492	T;D	0.97186	2.16;-4.28	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000010	D	0.96706	0.8925	L	0.27053	0.805	0.49483	D	0.999791	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	D	0.97265	0.9907	10	0.72032	D	0.01	-17.293	13.1011	0.59219	1.0:0.0:0.0:0.0	.	560;686	A2BDK6;P46821	.;MAP1B_HUMAN	Q	686;560	ENSP00000296755:K686Q;ENSP00000423416:K560Q	ENSP00000296755:K686Q	K	+	1	0	MAP1B	71526994	1.000000	0.71417	0.999000	0.59377	0.754000	0.42855	6.955000	0.76007	2.172000	0.68678	0.533000	0.62120	AAA		0.363	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71492659	71492659	+	Silent	SNP	C	C	T	rs183960902		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:71492659C>T	ENST00000296755.7	+	5	3775	c.3477C>T	c.(3475-3477)ttC>ttT	p.F1159F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1159					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.F1159F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCAGGAATTCGTAAATATCA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		22944	0.0		0.001	False		,,,				2504	0.0				p.F1159F	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3477T	5						.						62.0	61.0	62.0					5																	71492659		2203	4300	6503	71528415	SO:0001819	synonymous_variant	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3477C>T	5.37:g.71492659C>T			71528415	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.443	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71494954	71494954	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:71494954G>A	ENST00000296755.7	+	5	6070	c.5772G>A	c.(5770-5772)gaG>gaA	p.E1924E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1924					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.E1924E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACTCCTATGAGACCATTGGGA	0.463																																					p.E1924E	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5772A	5						.						54.0	57.0	56.0					5																	71494954		2202	4300	6502	71530710	SO:0001819	synonymous_variant	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5772G>A	5.37:g.71494954G>A			71530710	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
MAP1B	4131	broad.mit.edu	37	5	71496058	71496058	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:71496058G>T	ENST00000296755.7	+	5	7174	c.6876G>T	c.(6874-6876)aaG>aaT	p.K2292N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2292					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.K2292N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCCTAAGAAGAAAGAATCTG	0.498																																					p.K2292N	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6876T	5						.						106.0	116.0	113.0					5																	71496058		2203	4300	6503	71531814	SO:0001583	missense	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6876G>T	5.37:g.71496058G>T	ENSP00000296755:p.Lys2292Asn		71531814	NM_005909	A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502052	0.85176	.	.	ENSG00000131711	ENST00000296755	T	0.03717	3.83	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	T	0.12944	0.0314	L	0.34521	1.04	0.58432	D	0.999995	D;D	0.76494	0.999;0.997	D;P	0.78314	0.991;0.879	T	0.01015	-1.1480	10	0.72032	D	0.01	-24.1336	20.1551	0.98106	0.0:0.0:1.0:0.0	.	2166;2292	A2BDK6;P46821	.;MAP1B_HUMAN	N	2292	ENSP00000296755:K2292N	ENSP00000296755:K2292N	K	+	3	2	MAP1B	71531814	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.358000	0.73055	2.760000	0.94817	0.655000	0.94253	AAG		0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
UTP15	84135	broad.mit.edu	37	5	72864291	72864291	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:72864291C>A	ENST00000296792.4	+	4	485	c.230C>A	c.(229-231)tCt>tAt	p.S77Y	ANKRA2_ENST00000296785.3_5'Flank|UTP15_ENST00000543251.1_5'UTR|UTP15_ENST00000508491.1_Missense_Mutation_p.S58Y	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	77					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.S77Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAAACCTTTTCTCGATTTAAA	0.378																																					p.S77Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C230A	5						.						109.0	112.0	111.0					5																	72864291		2203	4300	6503	72900047	SO:0001583	missense	84135	exon4			AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.230C>A	5.37:g.72864291C>A	ENSP00000296792:p.Ser77Tyr		72900047	NM_032175	B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Missense_Mutation	SNP	ENST00000296792.4	37	CCDS34186.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.854011|4.854011	0.91355|0.91355	.|.	.|.	ENSG00000164338|ENSG00000164338	ENST00000509005|ENST00000296792;ENST00000508491	.|T;T	.|0.18960	.|2.18;2.18	5.55|5.55	5.55|5.55	0.83447|0.83447	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.048239	.|0.85682	.|D	.|0.000000	T|T	0.52041|0.52041	0.1710|0.1710	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.72982	.|0.979;0.979	T|T	0.53401|0.53401	-0.8444|-0.8444	5|9	.|.	.|.	.|.	.|.	19.5283|19.5283	0.95215|0.95215	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|58;77	.|B4DXK8;Q8TED0	.|.;UTP15_HUMAN	I|Y	104|77;58	.|ENSP00000296792:S77Y;ENSP00000424609:S58Y	.|.	L|S	+|+	1|2	0|0	UTP15|UTP15	72900047|72900047	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.549000|5.549000	0.67261|0.67261	2.596000|2.596000	0.87737|0.87737	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.378	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175	
GCNT4	51301	broad.mit.edu	37	5	74325304	74325304	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:74325304A>C	ENST00000322348.4	-	1	1420	c.559T>G	c.(559-561)Ttc>Gtc	p.F187V		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	187					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.F187V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GAAGCAATGAAAATATTGGAG	0.403																																					p.F187V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T559G	5						.						110.0	112.0	111.0					5																	74325304		2203	4300	6503	74361060	SO:0001583	missense	51301	exon1			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.559T>G	5.37:g.74325304A>C	ENSP00000317027:p.Phe187Val		74361060	NM_016591		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	.	24.1	4.489525	0.84962	.	.	ENSG00000176928	ENST00000322348	T	0.11169	2.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	M	0.87758	2.905	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.36335	-0.9752	10	0.56958	D	0.05	-11.5049	16.8222	0.85835	1.0:0.0:0.0:0.0	.	187	Q9P109	GCNT4_HUMAN	V	187	ENSP00000317027:F187V	ENSP00000317027:F187V	F	-	1	0	GCNT4	74361060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.326000	0.96389	2.371000	0.80710	0.533000	0.62120	TTC		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591	
COL4A3BP	10087	broad.mit.edu	37	5	74754984	74754984	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:74754984C>T	ENST00000405807.4	-	3	675	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.R213Q|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.R85Q	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	85	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)	p.R85Q(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AATATCAAATCGACATTCATC	0.373																																					p.R213Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G638A	5						.						159.0	134.0	142.0					5																	74754984		2203	4300	6503	74790740	SO:0001583	missense	10087	exon4			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.254G>A	5.37:g.74754984C>T	ENSP00000383996:p.Arg85Gln		74790740	NM_001130105	A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661586	0.96734	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.12361	2.69;2.69;2.69	5.5	5.5	0.81552	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.993;0.998	T	0.61739	-0.7001	10	0.72032	D	0.01	1.3765	18.9823	0.92760	0.0:1.0:0.0:0.0	.	85;213;85	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	Q	85;213;85	ENSP00000383996:R85Q;ENSP00000369862:R213Q;ENSP00000261415:R85Q	ENSP00000261415:R85Q	R	-	2	0	COL4A3BP	74790740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.956000	0.70315	2.574000	0.86865	0.563000	0.77884	CGA		0.373	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713	
IQGAP2	10788	broad.mit.edu	37	5	75896721	75896721	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:75896721G>A	ENST00000274364.6	+	11	1453	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	386					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.D386N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGAAAGCAACGATCTTGTGTC	0.443																																					p.D386N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1156A	5						.						144.0	128.0	134.0					5																	75896721		2203	4300	6503	75932477	SO:0001583	missense	10788	exon11			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1156G>A	5.37:g.75896721G>A	ENSP00000274364:p.Asp386Asn		75932477	NM_006633	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015453	0.35511	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.15372	2.43;2.43;2.43	5.31	4.43	0.53597	.	0.174618	0.49916	N	0.000133	T	0.18257	0.0438	M	0.69463	2.115	0.80722	D	1	B	0.12630	0.006	B	0.12156	0.007	T	0.04427	-1.0952	10	0.14656	T	0.56	-25.4262	11.5003	0.50433	0.1495:0.0:0.8505:0.0	.	386	Q13576	IQGA2_HUMAN	N	386;359;336	ENSP00000274364:D386N;ENSP00000423672:D359N;ENSP00000421097:D336N	ENSP00000274364:D386N	D	+	1	0	IQGAP2	75932477	1.000000	0.71417	0.441000	0.26858	0.993000	0.82548	5.050000	0.64251	1.366000	0.46076	0.563000	0.77884	GAT		0.443	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
IQGAP2	10788	broad.mit.edu	37	5	75948599	75948599	+	Missense_Mutation	SNP	C	C	T	rs375342547		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:75948599C>T	ENST00000274364.6	+	18	2416	c.2119C>T	c.(2119-2121)Cgg>Tgg	p.R707W	IQGAP2_ENST00000502745.1_Missense_Mutation_p.R203W|IQGAP2_ENST00000396234.3_Missense_Mutation_p.R203W|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R209W	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	707	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.R707W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATATAAACAACGGAAGGAGTA	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23420	0.0		0.0	False		,,,				2504	0.0				p.R707W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2119T	5						.	C	TRP/ARG	0,4406		0,0,2203	123.0	118.0	120.0		2119	5.3	0.0	5		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	IQGAP2	NM_006633.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	707/1576	75948599	1,13005	2203	4300	6503	75984355	SO:0001583	missense	10788	exon18			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2119C>T	5.37:g.75948599C>T	ENSP00000274364:p.Arg707Trp		75984355	NM_006633	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372720	0.42003	0.0	1.16E-4	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.72725	-0.18;-0.68;-0.18;-0.18;-0.18;-0.68;-0.68	5.31	5.31	0.75309	.	0.099830	0.64402	D	0.000003	T	0.78811	0.4342	M	0.84773	2.715	0.48696	D	0.999695	P;P;P;P	0.41546	0.469;0.754;0.469;0.754	B;P;B;P	0.47573	0.305;0.55;0.305;0.55	T	0.82100	-0.0624	10	0.87932	D	0	-5.5601	12.0601	0.53559	0.2152:0.7848:0.0:0.0	.	209;657;203;707	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	W	707;209;680;657;260;203;260;203	ENSP00000274364:R707W;ENSP00000442313:R209W;ENSP00000423672:R680W;ENSP00000421097:R657W;ENSP00000422661:R260W;ENSP00000379535:R203W;ENSP00000426027:R203W	ENSP00000274364:R707W	R	+	1	2	IQGAP2	75984355	0.982000	0.34865	0.012000	0.15200	0.078000	0.17371	2.063000	0.41423	2.653000	0.90120	0.655000	0.94253	CGG		0.388	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
WDR41	55255	broad.mit.edu	37	5	76785309	76785309	+	Missense_Mutation	SNP	C	C	T	rs144473455	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:76785309C>T	ENST00000296679.4	-	2	515	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Intron	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	47						lysosomal membrane (GO:0005765)		p.R47Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TACCAGAAATCGTACAATATC	0.363																																					p.R47Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G140A	5						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	201.0	190.0	194.0		140	6.0	0.9	5	dbSNP_134	194	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR41	NM_018268.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	47/460	76785309	2,13004	2203	4300	6503	76821065	SO:0001583	missense	55255	exon2			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.140G>A	5.37:g.76785309C>T	ENSP00000296679:p.Arg47Gln		76821065	NM_018268	B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875274	0.91664	2.27E-4	1.16E-4	ENSG00000164253	ENST00000296679;ENST00000515253;ENST00000514559;ENST00000511036;ENST00000504895;ENST00000509971	T;T;T;T;T;T	0.62232	0.41;0.45;0.04;0.04;0.04;0.04	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.182580	0.49916	D	0.000127	T	0.79347	0.4430	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72633	-0.4234	10	0.20046	T	0.44	-15.0343	20.437	0.99096	0.0:1.0:0.0:0.0	.	47	Q9HAD4	WDR41_HUMAN	Q	47;40;47;42;39;44	ENSP00000296679:R47Q;ENSP00000426499:R40Q;ENSP00000426937:R47Q;ENSP00000422510:R42Q;ENSP00000426141:R39Q;ENSP00000422922:R44Q	ENSP00000296679:R47Q	R	-	2	0	WDR41	76821065	1.000000	0.71417	0.890000	0.34922	0.994000	0.84299	4.837000	0.62796	2.831000	0.97527	0.643000	0.83706	CGA		0.363	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268	
LHFPL2	10184	broad.mit.edu	37	5	77784784	77784784	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:77784784G>C	ENST00000515007.2	-	3	933	c.623C>G	c.(622-624)gCa>gGa	p.A208G	LHFPL2_ENST00000380345.2_Missense_Mutation_p.A208G			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	208						integral component of membrane (GO:0016021)		p.A208G(1)		endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		ACTAGAGGTTGCAATTTCTGC	0.463																																					p.A208G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C623G	5						.						136.0	133.0	134.0					5																	77784784		2203	4300	6503	77820540	SO:0001583	missense	10184	exon5			D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.623C>G	5.37:g.77784784G>C	ENSP00000425906:p.Ala208Gly		77820540	NM_005779	B2RMQ6|Q7Z5P0|Q92605	Missense_Mutation	SNP	ENST00000515007.2	37	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	G	34	5.322854	0.95708	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.74209	-0.82;-0.82	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.83682	0.0172	10	0.42905	T	0.14	-13.2982	19.3618	0.94442	0.0:0.0:1.0:0.0	.	208	Q6ZUX7	LHPL2_HUMAN	G	208	ENSP00000369702:A208G;ENSP00000425906:A208G	ENSP00000369702:A208G	A	-	2	0	LHFPL2	77820540	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.476000	0.97823	2.820000	0.97059	0.650000	0.86243	GCA		0.463	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779	
PAPD4	167153	broad.mit.edu	37	5	78936729	78936729	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:78936729T>C	ENST00000296783.3	+	6	820	c.521T>C	c.(520-522)tTa>tCa	p.L174S	PAPD4_ENST00000504233.1_Missense_Mutation_p.L174S|PAPD4_ENST00000423041.2_Missense_Mutation_p.L174S|PAPD4_ENST00000428308.2_Missense_Mutation_p.L174S|PAPD4_ENST00000453514.1_Missense_Mutation_p.L174S			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	174					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)	p.L174S(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		ATAAGTGATTTAAAGAAGAAA	0.363																																					p.L174S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T521C	5						.						74.0	75.0	75.0					5																	78936729		2203	4300	6503	78972485	SO:0001583	missense	167153	exon5			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.521T>C	5.37:g.78936729T>C	ENSP00000296783:p.Leu174Ser		78972485	NM_001114394	Q86WZ2|Q8N927	Missense_Mutation	SNP	ENST00000296783.3	37	CCDS4048.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770178	0.90108	.	.	ENSG00000164329	ENST00000453514;ENST00000423041;ENST00000504233;ENST00000428308;ENST00000296783	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	0.992;0.991;1.0	P;D;D	0.70716	0.899;0.931;0.97	T	0.50101	-0.8867	10	0.22706	T	0.39	-9.664	16.3264	0.82983	0.0:0.0:0.0:1.0	.	174;174;174	Q6PIY7;Q6PIY7-2;D6RAF2	GLD2_HUMAN;.;.	S	174	ENSP00000397563:L174S;ENSP00000393412:L174S;ENSP00000421966:L174S;ENSP00000396861:L174S;ENSP00000296783:L174S	ENSP00000296783:L174S	L	+	2	0	PAPD4	78972485	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.407000	0.80029	2.259000	0.74868	0.374000	0.22700	TTA		0.363	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797	
CMYA5	202333	broad.mit.edu	37	5	79025756	79025756	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:79025756T>C	ENST00000446378.2	+	2	1199	c.1168T>C	c.(1168-1170)Ttc>Ctc	p.F390L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	390					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.F390L(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGCAACTATGTTCCTGAGAAC	0.468																																					p.F390L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1168C	5						.						80.0	81.0	81.0					5																	79025756		2167	4280	6447	79061512	SO:0001583	missense	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1168T>C	5.37:g.79025756T>C	ENSP00000394770:p.Phe390Leu		79061512	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798591	0.31777	.	.	ENSG00000164309	ENST00000446378	T	0.37058	1.22	5.01	0.955	0.19602	.	0.887645	0.09658	N	0.772782	T	0.20333	0.0489	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.25813	-1.0121	10	0.31617	T	0.26	.	1.2129	0.01908	0.2428:0.0908:0.2745:0.3919	.	390	Q8N3K9	CMYA5_HUMAN	L	390	ENSP00000394770:F390L	ENSP00000394770:F390L	F	+	1	0	CMYA5	79061512	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.112000	0.10791	0.247000	0.21414	0.379000	0.24179	TTC		0.468	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79028019	79028019	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:79028019C>A	ENST00000446378.2	+	2	3462	c.3431C>A	c.(3430-3432)tCa>tAa	p.S1144*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1144					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S1144*(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGGCAAGTTCATCAGTAGCT	0.423																																					p.S1144X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3431A	5						.						75.0	71.0	72.0					5																	79028019		1950	4146	6096	79063775	SO:0001587	stop_gained	202333	exon2			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3431C>A	5.37:g.79028019C>A	ENSP00000394770:p.Ser1144*		79063775	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330882	0.95733	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.96	-0.028	0.13924	.	2.217900	0.01632	N	0.023561	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3622	0.04310	0.1141:0.4419:0.112:0.332	.	.	.	.	X	1144	.	ENSP00000394770:S1144X	S	+	2	0	CMYA5	79063775	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.041000	0.13927	-0.315000	0.08703	-0.136000	0.14681	TCA		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
CMYA5	202333	broad.mit.edu	37	5	79084796	79084796	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:79084796C>A	ENST00000446378.2	+	10	11589	c.11558C>A	c.(11557-11559)tCt>tAt	p.S3853Y	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3853	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.S3853Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTATTTAGATCTTTCTCTGGA	0.338																																					p.S3853Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11558A	5						.						102.0	97.0	98.0					5																	79084796		1823	4089	5912	79120552	SO:0001583	missense	202333	exon10			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11558C>A	5.37:g.79084796C>A	ENSP00000394770:p.Ser3853Tyr		79120552	NM_153610	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422592	0.83559	.	.	ENSG00000164309	ENST00000446378	T	0.54071	0.59	5.6	5.6	0.85130	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73513	0.3596	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75605	-0.3260	9	0.87932	D	0	.	19.2128	0.93765	0.0:1.0:0.0:0.0	.	3853	Q8N3K9	CMYA5_HUMAN	Y	3853	ENSP00000394770:S3853Y	ENSP00000394770:S3853Y	S	+	2	0	CMYA5	79120552	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.985000	0.76193	2.632000	0.89209	0.650000	0.86243	TCT		0.338	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
THBS4	7060	broad.mit.edu	37	5	79355304	79355304	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:79355304C>T	ENST00000350881.2	+	6	964	c.774C>T	c.(772-774)tgC>tgT	p.C258C	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.C167C	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	258					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.C258C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TAGCTGAATGCCAGGCTTGCG	0.453																																					p.C258C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C774T	5						.						128.0	123.0	124.0					5																	79355304		2203	4300	6503	79391060	SO:0001819	synonymous_variant	7060	exon6				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.774C>T	5.37:g.79355304C>T			79391060	NM_003248	B2R909|Q86TG2	Silent	SNP	ENST00000350881.2	37	CCDS4049.1																																																																																				0.453	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
ZFYVE16	9765	broad.mit.edu	37	5	79730029	79730029	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:79730029G>T	ENST00000338008.5	+	2	243	c.63G>T	c.(61-63)caG>caT	p.Q21H	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.Q21H|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.Q21H	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	21					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.Q21H(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ATTTTGAACAGAACCCAGGTT	0.328																																					p.Q21H	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G63T	5						.						168.0	167.0	168.0					5																	79730029		2203	4300	6503	79765785	SO:0001583	missense	9765	exon3			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.63G>T	5.37:g.79730029G>T	ENSP00000337159:p.Gln21His		79765785	NM_001105251	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049460	0.55218	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.41400	1.0;1.0;1.0	5.14	3.34	0.38264	.	0.152967	0.30455	N	0.009594	T	0.51839	0.1698	L	0.54323	1.7	0.30051	N	0.811773	D;P	0.89917	1.0;0.93	D;P	0.70935	0.971;0.541	T	0.52011	-0.8632	10	0.87932	D	0	-2.4344	4.9603	0.14063	0.3106:0.1487:0.5407:0.0	.	21;21	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	H	21	ENSP00000337159:Q21H;ENSP00000423663:Q21H;ENSP00000426848:Q21H	ENSP00000337159:Q21H	Q	+	3	2	ZFYVE16	79765785	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.520000	0.22878	1.150000	0.42419	0.460000	0.39030	CAG		0.328	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
ZFYVE16	9765	broad.mit.edu	37	5	79752287	79752287	+	Missense_Mutation	SNP	G	G	A	rs376948348		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:79752287G>A	ENST00000338008.5	+	12	3878	c.3698G>A	c.(3697-3699)cGa>cAa	p.R1233Q	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.R1233Q|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.R1233Q	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1233					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.R1233Q(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAGGACCTTCGAAATTACCAG	0.328																																					p.R1233Q	Melanoma(150;1452 1854 16018 17851 37292)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3698A	5						.	G	GLN/ARG,GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	107.0	106.0	106.0		3698,3698	5.4	1.0	5		106	0,8592		0,0,4296	no	missense,missense	ZFYVE16	NM_001105251.1,NM_014733.3	43,43	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1233/1540,1233/1540	79752287	1,12995	2202	4296	6498	79788043	SO:0001583	missense	9765	exon13			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3698G>A	5.37:g.79752287G>A	ENSP00000337159:p.Arg1233Gln		79788043	NM_001105251	O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224462	0.95139	2.27E-4	0.0	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.54071	0.59;0.59;0.59	5.42	5.42	0.78866	Domain of unknown function DUF3480 (1);	0.000000	0.43416	D	0.000579	T	0.73249	0.3563	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.75988	-0.3123	10	0.87932	D	0	-8.126	18.8113	0.92058	0.0:0.0:1.0:0.0	.	43;1233	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	Q	1233	ENSP00000337159:R1233Q;ENSP00000423663:R1233Q;ENSP00000426848:R1233Q	ENSP00000337159:R1233Q	R	+	2	0	ZFYVE16	79788043	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.095000	0.94175	2.517000	0.84864	0.585000	0.79938	CGA		0.328	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	
RASGRF2	5924	broad.mit.edu	37	5	80382667	80382667	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:80382667G>T	ENST00000265080.4	+	9	1352	c.1285G>T	c.(1285-1287)Gaa>Taa	p.E429*	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	429	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E429*(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AATGCACGATGAAGTCAGCGA	0.468																																					p.E429X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1285T	5						.						140.0	118.0	125.0					5																	80382667		2203	4300	6503	80418423	SO:0001587	stop_gained	5924	exon9			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1285G>T	5.37:g.80382667G>T	ENSP00000265080:p.Glu429*		80418423	NM_006909	B9EG89|Q9UK56	Nonsense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	38	7.280050	0.98182	.	.	ENSG00000113319	ENST00000265080	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.8765	0.96875	0.0:0.0:1.0:0.0	.	.	.	.	X	429	.	ENSP00000265080:E429X	E	+	1	0	RASGRF2	80418423	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.695000	0.91970	0.650000	0.86243	GAA		0.468	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
RASGRF2	5924	broad.mit.edu	37	5	80504213	80504213	+	Missense_Mutation	SNP	G	G	A	rs556120453	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:80504213G>A	ENST00000265080.4	+	22	3179	c.3112G>A	c.(3112-3114)Gaa>Aaa	p.E1038K	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1038	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1038K(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GGATAAAAACGAAAGAACTCC	0.403													G|||	2	0.000399361	0.0	0.0	5008	,	,		16121	0.0		0.0	False		,,,				2504	0.002				p.E1038K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3112A	5						.						80.0	77.0	78.0					5																	80504213		2203	4300	6503	80539969	SO:0001583	missense	5924	exon22			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3112G>A	5.37:g.80504213G>A	ENSP00000265080:p.Glu1038Lys		80539969	NM_006909	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088435	0.76756	.	.	ENSG00000113319	ENST00000265080	T	0.30182	1.54	5.67	5.67	0.87782	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.135341	0.64402	D	0.000003	T	0.47002	0.1422	L	0.42581	1.335	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.12066	-1.0562	10	0.13108	T	0.6	.	19.366	0.94461	0.0:0.0:1.0:0.0	.	1038	O14827	RGRF2_HUMAN	K	1038	ENSP00000265080:E1038K	ENSP00000265080:E1038K	E	+	1	0	RASGRF2	80539969	1.000000	0.71417	0.996000	0.52242	0.109000	0.19521	7.926000	0.87569	2.676000	0.91093	0.650000	0.86243	GAA		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909	
ACOT12	134526	broad.mit.edu	37	5	80641747	80641747	+	Missense_Mutation	SNP	G	G	A	rs138381368		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:80641747G>A	ENST00000307624.3	-	7	758	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	244	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R244C(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AAGACAAGACGATCTCCAACT	0.453																																					p.R244C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C730T	5						.						85.0	81.0	83.0					5																	80641747		2203	4300	6503	80677503	SO:0001583	missense	134526	exon7			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.730C>T	5.37:g.80641747G>A	ENSP00000303246:p.Arg244Cys		80677503	NM_130767	B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614537	0.46631	.	.	ENSG00000172497	ENST00000307624	T	0.25085	1.82	6.08	3.33	0.38152	Thioesterase superfamily (1);	0.055100	0.64402	D	0.000002	T	0.43853	0.1266	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.20140	-1.0284	10	0.45353	T	0.12	-11.2378	6.0812	0.19942	0.1403:0.0:0.5931:0.2666	.	244	Q8WYK0	ACO12_HUMAN	C	244	ENSP00000303246:R244C	ENSP00000303246:R244C	R	-	1	0	ACOT12	80677503	1.000000	0.71417	0.111000	0.21465	0.391000	0.30476	3.247000	0.51422	0.441000	0.26529	-0.229000	0.12294	CGT		0.453	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	
SSBP2	23635	broad.mit.edu	37	5	80946145	80946145	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:80946145C>T	ENST00000320672.4	-	2	286	c.76G>A	c.(76-78)Gta>Ata	p.V26I	SSBP2_ENST00000509053.1_Missense_Mutation_p.V26I|SSBP2_ENST00000515395.1_Missense_Mutation_p.V26I|SSBP2_ENST00000514493.1_Missense_Mutation_p.V26I|SSBP2_ENST00000505980.1_Missense_Mutation_p.V26I	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	26	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.V26I(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TATTCATATACGTAGAGTGCT	0.284																																					p.V26I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G76A	5						.						22.0	22.0	22.0					5																	80946145		2196	4264	6460	80981901	SO:0001583	missense	23635	exon2			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.76G>A	5.37:g.80946145C>T	ENSP00000322977:p.Val26Ile		80981901	NM_012446	B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349613	0.61183	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	5.3	5.3	0.74995	LisH dimerisation motif (2);	0.000000	0.64402	D	0.000001	T	0.71443	0.3340	M	0.61703	1.905	0.58432	D	0.999999	D;P;P;B;D	0.61080	0.989;0.885;0.71;0.366;0.966	P;B;B;B;P	0.52881	0.556;0.252;0.089;0.05;0.712	T	0.75193	-0.3404	9	0.87932	D	0	-4.2805	18.0991	0.89500	0.0:1.0:0.0:0.0	.	26;26;26;26;26	E9PDA8;E9PB74;B7Z1J2;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	I	26;26;26;26;26;22	.	ENSP00000322977:V26I	V	-	1	0	SSBP2	80981901	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.875000	0.75551	2.662000	0.90505	0.655000	0.94253	GTA		0.284	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446	
VCAN	1462	broad.mit.edu	37	5	82835675	82835675	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:82835675C>A	ENST00000265077.3	+	8	7418	c.6853C>A	c.(6853-6855)Ccc>Acc	p.P2285T	VCAN_ENST00000343200.5_Missense_Mutation_p.P1298T|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2285	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P2285T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CACATTATATCCCCACACTTC	0.383																																					p.P1298T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3892A	5						.						88.0	89.0	89.0					5																	82835675		2203	4300	6503	82871431	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6853C>A	5.37:g.82835675C>A	ENSP00000265077:p.Pro2285Thr		82871431	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	9.855	1.194808	0.22037	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.37915	1.17;1.17	6.07	4.29	0.51040	.	0.188785	0.38272	N	0.001750	T	0.38134	0.1029	L	0.55990	1.75	0.19775	N	0.999956	P;D	0.55605	0.956;0.972	P;P	0.51016	0.656;0.573	T	0.20240	-1.0281	10	0.32370	T	0.25	.	5.7454	0.18118	0.2468:0.566:0.1212:0.066	.	1298;2285	P13611-2;P13611	.;CSPG2_HUMAN	T	2285;1298	ENSP00000265077:P2285T;ENSP00000340062:P1298T	ENSP00000265077:P2285T	P	+	1	0	VCAN	82871431	0.110000	0.22057	0.473000	0.27253	0.079000	0.17450	0.537000	0.23144	0.889000	0.36185	0.650000	0.86243	CCC		0.383	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
VCAN	1462	broad.mit.edu	37	5	82837443	82837443	+	Missense_Mutation	SNP	C	C	T	rs147798761		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:82837443C>T	ENST00000265077.3	+	8	9186	c.8621C>T	c.(8620-8622)gCg>gTg	p.A2874V	VCAN_ENST00000343200.5_Missense_Mutation_p.A1887V|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2874	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.A2874V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATATTGAAGCGACTTTCAAA	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19652	0.0		0.0	False		,,,				2504	0.0				p.A1887V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5660T	5						.	C	,VAL/ALA,,VAL/ALA	0,4406		0,0,2203	79.0	84.0	82.0		,5660,,8621	-7.0	0.0	5	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,64,,64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,benign,,benign	,1887/2410,,2874/3397	82837443	4,13002	2203	4300	6503	82873199	SO:0001583	missense	1462	exon7			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8621C>T	5.37:g.82837443C>T	ENSP00000265077:p.Ala2874Val		82873199	NM_001164097	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209051	0.39003	0.0	4.65E-4	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.88431	-2.37;-2.38	5.93	-7.04	0.01578	.	1.002880	0.08035	N	0.994180	T	0.65903	0.2736	N	0.08118	0	0.40072	D	0.976028	B;B	0.32526	0.374;0.111	B;B	0.17098	0.017;0.011	T	0.54563	-0.8275	10	0.07175	T	0.84	.	6.7621	0.23546	0.1675:0.4603:0.0:0.3722	.	1887;2874	P13611-2;P13611	.;CSPG2_HUMAN	V	2874;1887	ENSP00000265077:A2874V;ENSP00000340062:A1887V	ENSP00000265077:A2874V	A	+	2	0	VCAN	82873199	0.030000	0.19436	0.000000	0.03702	0.070000	0.16714	0.151000	0.16283	-1.529000	0.01754	-0.890000	0.02929	GCG		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
HAPLN1	1404	broad.mit.edu	37	5	82948298	82948298	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:82948298G>A	ENST00000274341.4	-	3	1296	c.446C>T	c.(445-447)aCt>aTt	p.T149I	HAPLN1_ENST00000514416.1_Missense_Mutation_p.T149I	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	149	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.T149I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TACCACAACAGTATCATCTTC	0.378																																					p.T149I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C446T	5						.						167.0	168.0	168.0					5																	82948298		2203	4300	6503	82984054	SO:0001583	missense	1404	exon3				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.446C>T	5.37:g.82948298G>A	ENSP00000274341:p.Thr149Ile		82984054	NM_001884	B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050573	0.55218	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.18810	4.17;4.17;4.17;4.17;4.17;4.17;2.19	6.16	6.16	0.99307	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.70903	2.155	0.80722	D	1	P	0.47910	0.902	P	0.53035	0.716	T	0.08889	-1.0700	10	0.62326	D	0.03	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	149	P10915	HPLN1_HUMAN	I	149;149;149;148;149;149;149	ENSP00000274341:T149I;ENSP00000422592:T149I;ENSP00000421341:T149I;ENSP00000426610:T148I;ENSP00000422522:T149I;ENSP00000421726:T149I;ENSP00000423836:T149I	ENSP00000274341:T149I	T	-	2	0	HAPLN1	82984054	1.000000	0.71417	0.695000	0.30226	0.027000	0.11550	3.853000	0.55941	2.937000	0.99478	0.650000	0.86243	ACT		0.378	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884	
GPR98	84059	broad.mit.edu	37	5	89943516	89943516	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:89943516T>G	ENST00000405460.2	+	17	3320	c.3224T>G	c.(3223-3225)tTt>tGt	p.F1075C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1075	Calx-beta 8. {ECO:0000255}.				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)	p.F1075C(1)		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)		ATATCCATATTTGTTAATGAA	0.388																																					p.F1075C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3224G	5						.						134.0	128.0	130.0					5																	89943516		1861	4097	5958	89979272	SO:0001583	missense	84059	exon17			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.3224T>G	5.37:g.89943516T>G	ENSP00000384582:p.Phe1075Cys		89979272	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	De_novo_Start_OutOfFrame	SNP	ENST00000405460.2	37	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.42|10.42	1.345216|1.345216	0.24426|0.24426	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|T	0.29655|0.36878	1.56|1.23	5.49|5.49	2.95|2.95	0.34219|0.34219	Na-Ca exchanger/integrin-beta4 (2);|.	0.577900|.	0.20337|.	N|.	0.094310|.	T|T	0.34106|0.34106	0.0886|0.0886	L|L	0.46157|0.46157	1.445|1.445	0.34066|0.34066	D|D	0.657907|0.657907	D|.	0.69078|.	0.997|.	D|.	0.70487|.	0.969|.	T|T	0.48043|0.48043	-0.9069|-0.9069	10|7	0.44086|0.87932	T|D	0.13|0	.|.	2.6145|2.6145	0.04900|0.04900	0.4252:0.0715:0.1117:0.3916|0.4252:0.0715:0.1117:0.3916	.|.	1075|.	Q8WXG9|.	GPR98_HUMAN|.	C|M	1075|663	ENSP00000384582:F1075C|ENSP00000424736:I663M	ENSP00000296619:F1075C|ENSP00000424736:I663M	F|I	+|+	2|3	0|3	GPR98|GPR98	89979272|89979272	0.972000|0.972000	0.33761|0.33761	0.106000|0.106000	0.21319|0.21319	0.369000|0.369000	0.29798|0.29798	1.079000|1.079000	0.30766|0.30766	0.290000|0.290000	0.22444|0.22444	0.528000|0.528000	0.53228|0.53228	TTT|ATT		0.388	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90079133	90079133	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:90079133A>G	ENST00000405460.2	+	66	13520	c.13424A>G	c.(13423-13425)gAc>gGc	p.D4475G	GPR98_ENST00000425867.2_Missense_Mutation_p.D136G	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4475	Calx-beta 30. {ECO:0000255}.				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)	p.D4475G(1)		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)		ATCATTGATGACAATGAAAGG	0.353																																					p.D4475G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A13424G	5						.						40.0	38.0	39.0					5																	90079133		1843	4090	5933	90114889	SO:0001583	missense	84059	exon66			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.13424A>G	5.37:g.90079133A>G	ENSP00000384582:p.Asp4475Gly		90114889	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527483	0.64860	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.56611	0.45;0.45	6.17	3.81	0.43845	Na-Ca exchanger/integrin-beta4 (2);	0.041961	0.85682	N	0.000000	T	0.64724	0.2624	M	0.93507	3.425	0.46725	D	0.999175	B;P;B	0.38617	0.117;0.64;0.396	B;B;B	0.40741	0.085;0.339;0.136	T	0.68554	-0.5378	10	0.62326	D	0.03	.	10.8706	0.46881	0.8875:0.0:0.1125:0.0	.	136;4475;136	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	G	4475;4475;136	ENSP00000384582:D4475G;ENSP00000392618:D136G	ENSP00000296619:D4475G	D	+	2	0	GPR98	90114889	1.000000	0.71417	0.624000	0.29186	0.684000	0.39900	5.052000	0.64263	0.575000	0.29434	0.533000	0.62120	GAC		0.353	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
GPR98	84059	broad.mit.edu	37	5	90281308	90281308	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:90281308T>C	ENST00000405460.2	+	85	18217	c.18121T>C	c.(18121-18123)Tca>Cca	p.S6041P	GPR98_ENST00000425867.2_Missense_Mutation_p.S1702P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6041					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)	p.S6041P(1)		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)		TCAGAGCATGTCACAGATCTA	0.438																																					p.S6041P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T18121C	5						.						182.0	168.0	172.0					5																	90281308		1924	4144	6068	90317064	SO:0001583	missense	84059	exon85			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.18121T>C	5.37:g.90281308T>C	ENSP00000384582:p.Ser6041Pro		90317064	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	7.590	0.670552	0.14776	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.29917	1.62;1.55	5.7	-1.62	0.08372	GPCR, family 2-like (1);	0.379457	0.28989	N	0.013487	T	0.08758	0.0217	N	0.03608	-0.345	0.20821	N	0.999848	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.20207	-1.0282	9	.	.	.	.	2.3609	0.04307	0.1063:0.268:0.3454:0.2802	.	1702;6041;1702	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	P	6041;6041;1702	ENSP00000384582:S6041P;ENSP00000392618:S1702P	.	S	+	1	0	GPR98	90317064	0.994000	0.37717	0.756000	0.31282	0.347000	0.29111	0.855000	0.27805	-0.175000	0.10725	-0.479000	0.04858	TCA		0.438	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
KIAA0825	285600	broad.mit.edu	37	5	93856418	93856418	+	Nonsense_Mutation	SNP	G	G	A	rs368289292		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:93856418G>A	ENST00000329378.7	-	5	754	c.505C>T	c.(505-507)Cga>Tga	p.R169*	KIAA0825_ENST00000312498.7_Nonsense_Mutation_p.R169*|KIAA0825_ENST00000513200.3_Nonsense_Mutation_p.R169*|KIAA0825_ENST00000427991.2_Nonsense_Mutation_p.R169*	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	169								p.R169*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAGAAGCGTCGAAGATGCAGT	0.348																																					p.R169X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C505T	5						.	G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	85.0	86.0		505,505	5.4	1.0	5		86	0,8598		0,0,4299	no	stop-gained,stop-gained	KIAA0825	NM_001145678.1,NM_173665.2	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	169/1276,169/325	93856418	1,13003	2203	4299	6502	93882174	SO:0001587	stop_gained	285600	exon5			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.505C>T	5.37:g.93856418G>A	ENSP00000331385:p.Arg169*		93882174	NM_001145678	O94914|Q6ZNN2	Nonsense_Mutation	SNP	ENST00000329378.7	37	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065439	0.93898	2.27E-4	0.0	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	.	.	.	5.36	5.36	0.76844	.	1.558490	0.03099	N	0.160805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0903	0.93224	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	ENSP00000312205:R169X	R	-	1	2	KIAA0825	93882174	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.490000	0.60319	2.499000	0.84300	0.585000	0.79938	CGA		0.348	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665	
MCTP1	79772	broad.mit.edu	37	5	94043223	94043223	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:94043223C>T	ENST00000515393.1	-	23	2977	c.2978G>A	c.(2977-2979)aGa>aAa	p.R993K	MCTP1_ENST00000505078.1_Missense_Mutation_p.R509K|MCTP1_ENST00000312216.8_Missense_Mutation_p.R772K|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000429576.2_Missense_Mutation_p.R686K|MCTP1_ENST00000514040.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	993					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R993K(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTTTTTCTTTCTTTTATATGG	0.458																																					p.R772K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2315A	5						.						143.0	139.0	141.0					5																	94043223		2203	4300	6503	94068979	SO:0001583	missense	79772	exon23				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2978G>A	5.37:g.94043223C>T	ENSP00000424126:p.Arg993Lys		94068979	NM_001002796	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	2.586	-0.296393	0.05532	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216	T;T;T;T	0.76968	-1.06;-0.68;0.05;-0.9	5.66	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	N	0.03154	-0.405	0.80722	D	1	B;B;B	0.24258	0.022;0.002;0.1	B;B;B	0.17433	0.018;0.006;0.017	T	0.54853	-0.8231	10	0.02654	T	1	-11.8732	14.4999	0.67714	0.0:0.9295:0.0:0.0705	.	993;686;772	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	K	993;686;509;772	ENSP00000424126:R993K;ENSP00000391639:R686K;ENSP00000426417:R509K;ENSP00000308957:R772K	ENSP00000308957:R772K	R	-	2	0	MCTP1	94068979	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.415000	0.66411	1.401000	0.46761	-0.218000	0.12543	AGA		0.458	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
MCTP1	79772	broad.mit.edu	37	5	94050484	94050484	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:94050484C>A	ENST00000515393.1	-	20	2717	c.2718G>T	c.(2716-2718)aaG>aaT	p.K906N	MCTP1_ENST00000505078.1_Missense_Mutation_p.K422N|MCTP1_ENST00000312216.8_Missense_Mutation_p.K685N|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000429576.2_Missense_Mutation_p.K599N|MCTP1_ENST00000514040.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	906					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.K906N(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCACTCACTTCTTTATCCTTT	0.438																																					p.K685N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2055T	5						.						204.0	196.0	199.0					5																	94050484		2203	4300	6503	94076240	SO:0001583	missense	79772	exon20				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2718G>T	5.37:g.94050484C>A	ENSP00000424126:p.Lys906Asn		94076240	NM_001002796	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805431	0.70682	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.78707	-1.2;-0.97;-0.17;-1.1;-0.93	5.7	1.44	0.22558	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.994;0.999	T	0.82516	-0.0418	10	0.62326	D	0.03	-6.6169	10.3994	0.44220	0.0:0.6397:0.0:0.3603	.	906;599;685	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	N	906;599;422;685;626	ENSP00000424126:K906N;ENSP00000391639:K599N;ENSP00000426417:K422N;ENSP00000308957:K685N;ENSP00000423410:K626N	ENSP00000308957:K685N	K	-	3	2	MCTP1	94076240	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.508000	0.45450	0.353000	0.24079	0.650000	0.86243	AAG		0.438	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
FAM81B	153643	broad.mit.edu	37	5	94784152	94784152	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:94784152G>A	ENST00000283357.5	+	9	1255	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	403						nucleus (GO:0005634)		p.Q403Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGACAATGCAGAATGAATATC	0.363																																					p.Q403Q												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1209A	5						.						72.0	67.0	69.0					5																	94784152		1856	4093	5949	94809908	SO:0001819	synonymous_variant	153643	exon9				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.1209G>A	5.37:g.94784152G>A			94809908	NM_152548		Silent	SNP	ENST00000283357.5	37	CCDS43341.1																																																																																				0.363	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
TTC37	9652	broad.mit.edu	37	5	94877076	94877076	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:94877076T>G	ENST00000358746.2	-	7	633	c.335A>C	c.(334-336)aAg>aCg	p.K112T		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	112						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.K112T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCACTTCTGCTTGTCAACACT	0.308																																					p.K112T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A335C	5						.						78.0	78.0	78.0					5																	94877076		2203	4300	6503	94902832	SO:0001583	missense	9652	exon7			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.335A>C	5.37:g.94877076T>G	ENSP00000351596:p.Lys112Thr		94902832	NM_014639	O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030637	0.75504	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.79554	-1.28;-0.44	5.7	4.5	0.54988	Tetratricopeptide-like helical (1);	0.050542	0.85682	D	0.000000	T	0.80534	0.4641	M	0.63843	1.955	0.41937	D	0.990597	P;P	0.48089	0.905;0.905	P;P	0.49887	0.603;0.625	T	0.76313	-0.3005	10	0.12103	T	0.63	.	11.9802	0.53115	0.0:0.0687:0.0:0.9313	.	64;112	D6RCE2;Q6PGP7	.;TTC37_HUMAN	T	112;64	ENSP00000351596:K112T;ENSP00000423742:K64T	ENSP00000351596:K112T	K	-	2	0	TTC37	94902832	1.000000	0.71417	0.983000	0.44433	0.953000	0.61014	3.863000	0.56016	0.943000	0.37553	0.529000	0.55759	AAG		0.308	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	
RIOK2	55781	broad.mit.edu	37	5	96513538	96513538	+	Missense_Mutation	SNP	G	G	A	rs147196470	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:96513538G>A	ENST00000283109.3	-	3	288	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	CTD-2215E18.1_ENST00000509481.1_Intron|RNU1-73P_ENST00000383971.1_RNA|RIOK2_ENST00000508447.1_Missense_Mutation_p.R74W	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	74							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R74W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TTTGTCAACCGATAGCCCTGG	0.378																																					p.R74W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C220T	5						.	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	101.0	93.0	96.0		220,220	3.9	1.0	5	dbSNP_134	96	4,8596	3.0+/-9.4	0,4,4296	yes	missense,missense	RIOK2	NM_001159749.1,NM_018343.2	101,101	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging	74/475,74/553	96513538	4,13002	2203	4300	6503	96539294	SO:0001583	missense	55781	exon3			AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.220C>T	5.37:g.96513538G>A	ENSP00000283109:p.Arg74Trp		96539294	NM_018343	D6RDI3|Q9NUT0	Missense_Mutation	SNP	ENST00000283109.3	37	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091469	0.76756	0.0	4.65E-4	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.08546	3.15;3.08	5.7	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);RIO2 kinase, winged helix, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.51012	-0.8759	10	0.87932	D	0	-7.8123	12.5619	0.56286	0.0:0.127:0.7407:0.1323	.	74;74	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	W	74	ENSP00000283109:R74W;ENSP00000420932:R74W	ENSP00000283109:R74W	R	-	1	2	RIOK2	96539294	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.672000	0.61597	0.761000	0.33130	0.650000	0.86243	CGG		0.378	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343	
OR2Y1	134083	broad.mit.edu	37	5	180166826	180166826	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr5:180166826A>G	ENST00000307832.2	-	1	273	c.233T>C	c.(232-234)gTg>gCg	p.V78A		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V78A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTGGGGCACGGTGCTGGT	0.587																																					p.V78A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T233C	5						.						78.0	72.0	74.0					5																	180166826		2203	4300	6503	180099432	SO:0001583	missense	134083	exon1			AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.233T>C	5.37:g.180166826A>G	ENSP00000312403:p.Val78Ala		180099432	NM_001001657	B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	a	10.98	1.505170	0.26949	.	.	ENSG00000174339	ENST00000307832	T	0.00912	5.55	4.41	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000359	T	0.01421	0.0046	L	0.49513	1.565	0.09310	N	1	D	0.54772	0.968	P	0.47744	0.556	T	0.50329	-0.8841	10	0.51188	T	0.08	.	4.5996	0.12347	0.6797:0.2176:0.1027:0.0	.	78	Q8NGV0	OR2Y1_HUMAN	A	78	ENSP00000312403:V78A	ENSP00000312403:V78A	V	-	2	0	OR2Y1	180099432	0.010000	0.17322	0.019000	0.16419	0.003000	0.03518	2.553000	0.45837	0.819000	0.34492	0.418000	0.28097	GTG		0.587	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682	
ASCC3	10973	broad.mit.edu	37	6	100957860	100957860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:100957860G>A	ENST00000369162.2	-	41	6753	c.6409C>T	c.(6409-6411)Cga>Tga	p.R2137*		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2137	SEC63 2.				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)	p.R2137*(1)		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)		TGATGATTTCGAATATATCCT	0.343																																					p.R2137X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6409T	6						.						157.0	174.0	168.0					6																	100957860		2203	4300	6503	101064581	SO:0001587	stop_gained	10973	exon41			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.6409C>T	6.37:g.100957860G>A	ENSP00000358159:p.Arg2137*		101064581	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Nonsense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	49	15.395503	0.99832	.	.	ENSG00000112249	ENST00000369162	.	.	.	5.75	3.82	0.43975	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1271	0.72493	0.0:0.0:0.6684:0.3316	.	.	.	.	X	2137	.	ENSP00000358159:R2137X	R	-	1	2	ASCC3	101064581	1.000000	0.71417	0.996000	0.52242	0.830000	0.47004	1.395000	0.34520	1.507000	0.48752	0.650000	0.86243	CGA		0.343	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
ASCC3	10973	broad.mit.edu	37	6	101091907	101091907	+	Splice_Site	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:101091907T>G	ENST00000369162.2	-	23	4076	c.3732A>C	c.(3730-3732)caA>caC	p.Q1244H		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1244	SEC63 1.				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)	p.Q1244H(1)		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)		ATACACTTACTTGTTTTTTTA	0.284																																					p.Q1244H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3732C	6						.						56.0	56.0	56.0					6																	101091907		2203	4297	6500	101198628	SO:0001630	splice_region_variant	10973	exon23			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.3732+1A>C	6.37:g.101091907T>G			101198628	NM_006828	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.976870	0.53720	.	.	ENSG00000112249	ENST00000369162	T	0.61627	0.09	5.35	4.47	0.54385	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.65439	0.2691	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.68224	-0.5465	9	.	.	.	.	13.2697	0.60153	0.0:0.9218:0.0:0.0782	.	1244	Q8N3C0	HELC1_HUMAN	H	1244	ENSP00000358159:Q1244H	.	Q	-	3	2	ASCC3	101198628	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	5.987000	0.70571	1.245000	0.43885	-0.479000	0.04858	CAA		0.284	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	Missense_Mutation
GRIK2	2898	broad.mit.edu	37	6	101847222	101847222	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:101847222A>G	ENST00000421544.1	+	1	559	c.69A>G	c.(67-69)ttA>ttG	p.L23L	GRIK2_ENST00000358361.3_Silent_p.L23L|GRIK2_ENST00000369138.1_Silent_p.L23L|GRIK2_ENST00000369137.3_Silent_p.L23L|GRIK2_ENST00000413795.1_Silent_p.L23L|GRIK2_ENST00000318991.6_Silent_p.L23L	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	23					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L23L(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGCTCTGTTTACTGTGGATTG	0.483																																					p.L23L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A69G	6						.						170.0	155.0	160.0					6																	101847222		2203	4300	6503	101953943	SO:0001819	synonymous_variant	2898	exon1				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.69A>G	6.37:g.101847222A>G			101953943	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	CCDS5048.1																																																																																				0.483	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
GRIK2	2898	broad.mit.edu	37	6	102124605	102124605	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:102124605G>A	ENST00000421544.1	+	4	1139	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	GRIK2_ENST00000358361.3_Missense_Mutation_p.E217K|GRIK2_ENST00000369138.1_Missense_Mutation_p.E217K|GRIK2_ENST00000369134.4_Missense_Mutation_p.E168K|GRIK2_ENST00000369137.3_Missense_Mutation_p.E217K|GRIK2_ENST00000413795.1_Missense_Mutation_p.E217K|GRIK2_ENST00000318991.6_Missense_Mutation_p.E217K	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	217					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E217*(2)|p.E217K(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTTACTAAAAGAAATGAAAAG	0.363																																					p.E217K												.	.	4	Substitution - Missense(2)|Substitution - Nonsense(2)	large_intestine(4)	c.G649A	6						.						77.0	79.0	78.0					6																	102124605		2203	4300	6503	102231298	SO:0001583	missense	2898	exon4				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.649G>A	6.37:g.102124605G>A	ENSP00000397026:p.Glu217Lys		102231298	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243200	0.95272	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.77	4.9	0.64082	Extracellular ligand-binding receptor (1);	0.053978	0.64402	N	0.000001	D	0.90219	0.6942	M	0.88979	2.995	0.51482	D	0.999926	D;D;D	0.63880	0.976;0.993;0.976	P;D;P	0.66716	0.862;0.946;0.862	D	0.92368	0.5903	10	0.87932	D	0	.	14.9797	0.71303	0.0684:0.0:0.9316:0.0	.	217;217;217	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	K	217;217;217;217;217;217;217;168;179	ENSP00000397026:E217K;ENSP00000405596:E217K;ENSP00000358134:E217K;ENSP00000351128:E217K;ENSP00000358133:E217K;ENSP00000313276:E217K;ENSP00000358130:E168K	ENSP00000313276:E217K	E	+	1	0	GRIK2	102231298	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.867000	0.99620	1.461000	0.47929	-0.157000	0.13467	GAA		0.363	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
GRIK2	2898	broad.mit.edu	37	6	102337636	102337636	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:102337636A>G	ENST00000421544.1	+	11	2136	c.1646A>G	c.(1645-1647)aAc>aGc	p.N549S	GRIK2_ENST00000369138.1_Missense_Mutation_p.N549S|GRIK2_ENST00000369134.4_Missense_Mutation_p.N500S|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000413795.1_Missense_Mutation_p.N549S|GRIK2_ENST00000318991.6_Missense_Mutation_p.N549S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	549					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N549S(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AATGGTACAAACCCAGGCGTC	0.463																																					p.N549S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1646G	6						.						197.0	192.0	194.0					6																	102337636		2203	4300	6503	102444329	SO:0001583	missense	2898	exon11				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1646A>G	6.37:g.102337636A>G	ENSP00000397026:p.Asn549Ser		102444329	NM_021956	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400599	0.62177	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000436862	D;D;D;D;D;T	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24;3.64	5.6	5.6	0.85130	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.90635	0.7063	N	0.10760	0.04	0.54753	D	0.999981	B;B;B	0.28850	0.225;0.144;0.225	B;B;B	0.36808	0.233;0.117;0.233	D	0.90091	0.4177	10	0.48119	T	0.1	.	15.7892	0.78338	1.0:0.0:0.0:0.0	.	549;549;549	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	S	549;549;549;549;549;500;148	ENSP00000397026:N549S;ENSP00000405596:N549S;ENSP00000358134:N549S;ENSP00000313276:N549S;ENSP00000358130:N500S;ENSP00000407140:N148S	ENSP00000313276:N549S	N	+	2	0	GRIK2	102444329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.123000	0.65237	0.528000	0.53228	AAC		0.463	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1		
HACE1	57531	broad.mit.edu	37	6	105225190	105225190	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:105225190A>C	ENST00000262903.4	-	15	1845	c.1569T>G	c.(1567-1569)ccT>ccG	p.P523P	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	523					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.P523P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GATCTTTAAAAGGCTAGCTCA	0.358																																					p.P523P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1569G	6						.						79.0	81.0	80.0					6																	105225190		2203	4300	6503	105331883	SO:0001819	synonymous_variant	57531	exon15			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1569T>G	6.37:g.105225190A>C			105331883	NM_020771	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Silent	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	A	8.936	0.964702	0.18583	.	.	ENSG00000085382	ENST00000518503	.	.	.	5.58	-4.21	0.03812	.	.	.	.	.	T	0.19525	0.0469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43718	-0.9374	4	.	.	.	.	0.4736	0.00536	0.3276:0.1408:0.1777:0.354	.	.	.	.	V	6	.	.	F	-	1	0	HACE1	105331883	0.252000	0.23972	0.997000	0.53966	0.992000	0.81027	-0.565000	0.05929	-0.240000	0.09696	-0.465000	0.05216	TTT		0.358	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	
PRDM1	639	broad.mit.edu	37	6	106536260	106536260	+	Missense_Mutation	SNP	C	C	T	rs375331216		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:106536260C>T	ENST00000369096.4	+	2	461	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PRDM1_ENST00000369091.2_Missense_Mutation_p.S40L	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	76					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S40L(1)|p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GGCGGTACTTCGGTTCAGGCG	0.493			"""D, N, Mis, F, S"""		DLBCL																																p.S76L			Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C227T	6						.	C	LEU/SER	0,4406		0,0,2203	208.0	184.0	192.0		227	4.9	0.0	6		192	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRDM1	NM_001198.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	76/826	106536260	1,13005	2203	4300	6503	106642953	SO:0001583	missense	639	exon2				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.227C>T	6.37:g.106536260C>T	ENSP00000358092:p.Ser76Leu		106642953	NM_001198	B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.721476	0.00700	0.0	1.16E-4	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000424894	T;T;T	0.39406	3.35;3.33;1.08	5.8	4.94	0.65067	.	0.549039	0.17662	N	0.166297	T	0.08044	0.0201	N	0.12182	0.205	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.26224	-1.0109	10	0.15499	T	0.54	-0.6607	7.007	0.24842	0.0:0.7139:0.0:0.2861	.	76	O75626	PRDM1_HUMAN	L	40;76;40;40	ENSP00000358087:S40L;ENSP00000358092:S76L;ENSP00000395566:S40L	ENSP00000358087:S40L	S	+	2	0	PRDM1	106642953	0.001000	0.12720	0.004000	0.12327	0.053000	0.15095	0.921000	0.28718	1.471000	0.48121	0.563000	0.77884	TCG		0.493	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3		
GCNT2	2651	broad.mit.edu	37	6	10621675	10621675	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:10621675C>T	ENST00000379597.3	+	2	1573	c.1017C>T	c.(1015-1017)caC>caT	p.H339H	GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000410107.1_Splice_Site_p.H53H|GCNT2_ENST00000495262.1_Splice_Site_p.H339H|GCNT2_ENST00000316170.3_Splice_Site_p.H337H|GCNT2_ENST00000265012.4_Splice_Site_p.H339H			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	339					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.H339H(2)|p.H337H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GAGGCTGCCACGGTGAGGCTC	0.522																																					p.H339H												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C1017T	6						.						81.0	67.0	72.0					6																	10621675		2203	4300	6503	10729661	SO:0001630	splice_region_variant	2651	exon2			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.1018+1C>T	6.37:g.10621675C>T			10729661	NM_145655		Silent	SNP	ENST00000379597.3	37	CCDS34338.1																																																																																				0.522	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649	Silent
AIM1	202	broad.mit.edu	37	6	106975276	106975276	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:106975276T>G	ENST00000369066.3	+	5	3772	c.3285T>G	c.(3283-3285)atT>atG	p.I1095M		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.I1095M(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAGAAGACATTTTGGAAAGGC	0.413																																					p.I1095M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3285G	6						.						233.0	223.0	226.0					6																	106975276		2203	4300	6503	107081969	SO:0001583	missense	202	exon5			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3285T>G	6.37:g.106975276T>G	ENSP00000358062:p.Ile1095Met		107081969	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	T	3.321	-0.138672	0.06669	.	.	ENSG00000112297	ENST00000369066	T	0.72505	-0.66	5.29	2.83	0.33086	Beta/gamma crystallin (2);Gamma-crystallin-related (1);	1.256560	0.05502	N	0.558522	T	0.37544	0.1007	L	0.35414	1.06	0.18873	N	0.999986	B	0.22746	0.074	B	0.21151	0.033	T	0.24905	-1.0147	10	0.29301	T	0.29	.	6.9519	0.24550	0.0:0.0807:0.1498:0.7695	.	1095	Q9Y4K1	AIM1_HUMAN	M	1095	ENSP00000358062:I1095M	ENSP00000358062:I1095M	I	+	3	3	AIM1	107081969	0.506000	0.26139	0.007000	0.13788	0.004000	0.04260	0.815000	0.27253	0.383000	0.24910	-0.256000	0.11100	ATT		0.413	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
MAK	4117	broad.mit.edu	37	6	10791909	10791909	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:10791909G>A	ENST00000313243.2	-	10	1697	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Splice_Site_p.R439W|MAK_ENST00000538030.1_Splice_Site_p.R439C|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Splice_Site_p.R439W			P20794	MAK_HUMAN	male germ cell-associated kinase	439					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)	p.R439W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AAATCTTACCGAAATGGAGAA	0.338																																					p.R439W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1315T	6						.						39.0	42.0	41.0					6																	10791909		2203	4299	6502	10899895	SO:0001630	splice_region_variant	4117	exon9				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1316+1C>T	6.37:g.10791909G>A			10899895	NM_005906	F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	CCDS4516.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.584153|2.584153	0.46110|0.46110	.|.	.|.	ENSG00000111837|ENSG00000111837	ENST00000538030|ENST00000313243;ENST00000354489	T|T;T	0.72051|0.73363	-0.62|-0.74;-0.74	5.12|5.12	-2.7|-2.7	0.06004|0.06004	.|.	0.660669|0.660669	0.15047|0.15047	N|N	0.283532|0.283532	T|T	0.59046|0.59046	0.2165|0.2165	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D	.|0.58620	.|0.983	.|P	.|0.48677	.|0.586	T|T	0.62282|0.62282	-0.6887|-0.6887	8|10	0.87932|0.72032	D|D	0|0.01	.|.	5.2995|5.2995	0.15770|0.15770	0.247:0.0:0.2215:0.5314|0.247:0.0:0.2215:0.5314	.|.	.|439	.|P20794	.|MAK_HUMAN	C|W	439|439	ENSP00000442250:R439C|ENSP00000313021:R439W;ENSP00000346484:R439W	ENSP00000442250:R439C|ENSP00000313021:R439W	R|R	-|-	1|1	0|2	MAK|MAK	10899895|10899895	1.000000|1.000000	0.71417|0.71417	0.866000|0.866000	0.34008|0.34008	0.210000|0.210000	0.24377|0.24377	0.590000|0.590000	0.23954|0.23954	-0.243000|-0.243000	0.09653|0.09653	-0.253000|-0.253000	0.11424|0.11424	CGT|CGG		0.338	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906	Missense_Mutation
LACE1	246269	broad.mit.edu	37	6	108843539	108843539	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:108843539G>A	ENST00000368977.4	+	13	1543	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	453						mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.E453K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CGGAGAAGAGGAAATCTTTGC	0.383																																					p.E453K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1357A	6						.						80.0	72.0	75.0					6																	108843539		2203	4300	6503	108950232	SO:0001583	missense	246269	exon13			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1357G>A	6.37:g.108843539G>A	ENSP00000357973:p.Glu453Lys		108950232	NM_145315	Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	G	35	5.564915	0.96527	.	.	ENSG00000135537	ENST00000368977	.	.	.	5.86	5.86	0.93980	.	0.101532	0.64402	D	0.000003	T	0.81245	0.4782	M	0.90650	3.135	0.80722	D	1	D	0.61080	0.989	P	0.58013	0.831	D	0.83433	0.0039	9	0.56958	D	0.05	-21.0136	19.7753	0.96389	0.0:0.0:1.0:0.0	.	453	Q8WV93	LACE1_HUMAN	K	453	.	ENSP00000357973:E453K	E	+	1	0	LACE1	108950232	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.298000	0.96132	2.777000	0.95525	0.655000	0.94253	GAA		0.383	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315	
ARMC2	84071	broad.mit.edu	37	6	109274430	109274430	+	Silent	SNP	G	G	A	rs376044702		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:109274430G>A	ENST00000392644.4	+	13	1959	c.1791G>A	c.(1789-1791)ccG>ccA	p.P597P	ARMC2_ENST00000368972.3_Silent_p.P432P	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	597								p.P590P(1)		endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGAGGCCGCCGTCAGAGGCAG	0.632																																					p.P597P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1791A	6						.	G		0,4406		0,0,2203	43.0	44.0	43.0		1791	0.2	0.0	6		43	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARMC2	NM_032131.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		597/868	109274430	1,13005	2203	4300	6503	109381123	SO:0001819	synonymous_variant	84071	exon13			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1791G>A	6.37:g.109274430G>A			109381123	NM_032131	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	ENST00000392644.4	37	CCDS5069.2																																																																																				0.632	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	
CEP57L1	285753	broad.mit.edu	37	6	109481817	109481817	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:109481817T>G	ENST00000517392.1	+	10	1485	c.1059T>G	c.(1057-1059)agT>agG	p.S353R	CEP57L1_ENST00000359793.3_Missense_Mutation_p.S353R|CEP57L1_ENST00000368968.2_Missense_Mutation_p.S353R|CEP57L1_ENST00000368970.2_Missense_Mutation_p.S370R|CEP57L1_ENST00000523787.1_Missense_Mutation_p.S356R|CEP57L1_ENST00000520883.1_Missense_Mutation_p.S253R|CEP57L1_ENST00000407272.1_Missense_Mutation_p.S353R|CEP57L1_ENST00000521522.1_Missense_Mutation_p.S300R|CEP57L1_ENST00000336977.4_Missense_Mutation_p.S253R	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	353					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S353R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAACTGAAAGTCATTCAGTCT	0.333																																					p.S353R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1059G	6						.						87.0	85.0	86.0					6																	109481817		2203	4299	6502	109588510	SO:0001583	missense	285753	exon10			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1059T>G	6.37:g.109481817T>G	ENSP00000427844:p.Ser353Arg		109588510	NM_173830	G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	T	3.177	-0.168749	0.06461	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368968;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793;ENST00000523174	T;T;T;T;T;T;T;T;T	0.45668	0.92;0.92;0.93;0.93;0.91;0.89;0.93;0.91;0.92	5.19	-1.18	0.09617	.	0.842078	0.11138	N	0.595594	T	0.14313	0.0346	L	0.52364	1.645	0.09310	N	1	B;B	0.13594	0.008;0.007	B;B	0.17098	0.017;0.01	T	0.34675	-0.9819	10	0.72032	D	0.01	-0.3754	3.1999	0.06646	0.107:0.3581:0.105:0.4299	.	353;353	Q8IYX8;G5E992	CE57L_HUMAN;.	R	353;353;253;300;353;370;253;356;353;134	ENSP00000427844:S353R;ENSP00000383936:S353R;ENSP00000337392:S253R;ENSP00000428344:S300R;ENSP00000357964:S353R;ENSP00000357966:S370R;ENSP00000430011:S253R;ENSP00000430529:S356R;ENSP00000352841:S353R	ENSP00000337392:S253R	S	+	3	2	CEP57L1	109588510	0.003000	0.15002	0.010000	0.14722	0.199000	0.23934	0.320000	0.19540	-0.066000	0.12998	-0.790000	0.03334	AGT		0.333	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830	
PPIL6	285755	broad.mit.edu	37	6	109757379	109757379	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:109757379G>A	ENST00000521072.2	-	2	739	c.159C>T	c.(157-159)tcC>tcT	p.S53S	PPIL6_ENST00000440797.2_Silent_p.S53S|PPIL6_ENST00000424445.2_Intron|AL109947.1_ENST00000459391.1_RNA	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	53					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S53S(1)		large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CTTCAAATTTGGATGGATGAT	0.328																																					p.S53S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C159T	6						.						82.0	86.0	85.0					6																	109757379		2203	4300	6503	109864072	SO:0001819	synonymous_variant	285755	exon2				CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.159C>T	6.37:g.109757379G>A			109864072	NM_001111298	A9NIU0|A9NIU9|E7EX15	Silent	SNP	ENST00000521072.2	37	CCDS5074.1																																																																																				0.328	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4		
ZBTB24	9841	broad.mit.edu	37	6	109787219	109787219	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:109787219T>G	ENST00000230122.3	-	7	2096	c.1929A>C	c.(1927-1929)gaA>gaC	p.E643D	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	643					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GTTCCAGTGTTTCCTTGGACA	0.493																																					p.E643D												.	.	0			c.A1929C	6						.						146.0	136.0	139.0					6																	109787219		2203	4300	6503	109893912	SO:0001583	missense	9841	exon7			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1929A>C	6.37:g.109787219T>G	ENSP00000230122:p.Glu643Asp		109893912	NM_014797	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241603	0.58995	.	.	ENSG00000112365	ENST00000230122	T	0.11385	2.78	5.95	0.698	0.18087	.	0.052085	0.85682	D	0.000000	T	0.08179	0.0204	L	0.29908	0.895	0.36676	D	0.878774	D	0.67145	0.996	P	0.61940	0.896	T	0.10800	-1.0614	10	0.72032	D	0.01	-28.0578	9.1446	0.36925	0.0:0.3144:0.0:0.6856	.	643	O43167	ZBT24_HUMAN	D	643	ENSP00000230122:E643D	ENSP00000230122:E643D	E	-	3	2	ZBTB24	109893912	0.993000	0.37304	0.999000	0.59377	0.469000	0.32828	0.256000	0.18351	0.096000	0.17463	-0.256000	0.11100	GAA		0.493	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797	
ZBTB24	9841	broad.mit.edu	37	6	109787329	109787329	+	Missense_Mutation	SNP	G	G	T	rs554644990		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:109787329G>T	ENST00000230122.3	-	7	1986	c.1819C>A	c.(1819-1821)Ctt>Att	p.L607I	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	607					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L607I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGAGCTGAAAGAATTAAATTC	0.488																																					p.L607I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1819A	6						.						98.0	99.0	98.0					6																	109787329		2203	4300	6503	109894022	SO:0001583	missense	9841	exon7			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1819C>A	6.37:g.109787329G>T	ENSP00000230122:p.Leu607Ile		109894022	NM_014797	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159839	0.78226	.	.	ENSG00000112365	ENST00000230122	T	0.11169	2.8	5.95	5.95	0.96441	.	0.228496	0.37393	N	0.002120	T	0.06826	0.0174	L	0.27053	0.805	0.32440	N	0.546849	P	0.52577	0.954	P	0.47206	0.541	T	0.03344	-1.1046	10	0.62326	D	0.03	-17.9812	15.8179	0.78618	0.0:0.1352:0.8648:0.0	.	607	O43167	ZBT24_HUMAN	I	607	ENSP00000230122:L607I	ENSP00000230122:L607I	L	-	1	0	ZBTB24	109894022	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.401000	0.52601	2.821000	0.97095	0.650000	0.86243	CTT		0.488	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797	
ZBTB24	9841	broad.mit.edu	37	6	109787672	109787672	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:109787672G>A	ENST00000230122.3	-	7	1643	c.1476C>T	c.(1474-1476)tgC>tgT	p.C492C	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	492					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C492C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TACACTCAGGGCAGGAGAAAG	0.463																																					p.C492C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1476T	6						.						93.0	95.0	94.0					6																	109787672		2203	4300	6503	109894365	SO:0001819	synonymous_variant	9841	exon7			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1476C>T	6.37:g.109787672G>A			109894365	NM_014797	Q17RC6|Q5TED5|Q8N455	Silent	SNP	ENST00000230122.3	37	CCDS34509.1																																																																																				0.463	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797	
AK9	221264	broad.mit.edu	37	6	109962807	109962807	+	Nonsense_Mutation	SNP	G	G	A	rs201060409		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:109962807G>A	ENST00000424296.2	-	10	923	c.847C>T	c.(847-849)Cga>Tga	p.R283*	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Nonsense_Mutation_p.R283*|AK9_ENST00000285397.5_Nonsense_Mutation_p.R283*	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	283	Adenylate kinase 1.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.R283*(2)									TATTTAAGTCGATCCATAACA	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		19753	0.0		0.0	False		,,,				2504	0.001				p.R283X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C847T	6						.						103.0	94.0	97.0					6																	109962807		2203	4299	6502	110069500	SO:0001587	stop_gained	221264	exon10			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.847C>T	6.37:g.109962807G>A	ENSP00000410186:p.Arg283*		110069500	NM_001145128	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Nonsense_Mutation	SNP	ENST00000424296.2	37	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326229	0.41197	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000448084	.	.	.	5.44	4.48	0.54585	.	0.183932	0.44688	D	0.000436	.	.	.	.	.	.	0.25015	N	0.991372	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5868	14.929	0.70900	0.0:0.0:0.8476:0.1524	.	.	.	.	X	283;283;283;206	.	.	R	-	1	2	AKD1	110069500	0.546000	0.26457	0.605000	0.28930	0.214000	0.24535	2.675000	0.46875	2.552000	0.86080	0.650000	0.86243	CGA		0.348	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128	
RPF2	84154	broad.mit.edu	37	6	111346620	111346620	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:111346620A>C	ENST00000441448.2	+	10	848	c.756A>C	c.(754-756)aaA>aaC	p.K252N		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	252						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K252N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AGAAGAAGAAAAATATTTCCC	0.333																																					p.K252N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A756C	6						.						63.0	67.0	66.0					6																	111346620		2203	4300	6503	111453313	SO:0001583	missense	84154	exon10			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.756A>C	6.37:g.111346620A>C	ENSP00000402338:p.Lys252Asn		111453313	NM_032194	Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	a	18.71	3.681818	0.68042	.	.	ENSG00000197498	ENST00000441448	T	0.70986	-0.53	5.8	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.81903	0.4921	H	0.95504	3.68	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.66084	0.941;0.941	T	0.83212	-0.0073	10	0.87932	D	0	-27.0606	9.0364	0.36291	0.6:0.0:0.4:0.0	.	252;252	A8K800;Q9H7B2	.;RPF2_HUMAN	N	252	ENSP00000402338:K252N	ENSP00000402338:K252N	K	+	3	2	RPF2	111453313	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.729000	0.47327	0.150000	0.19136	0.460000	0.39030	AAA		0.333	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194	
REV3L	5980	broad.mit.edu	37	6	111665171	111665171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:111665171G>A	ENST00000358835.3	-	22	7949	c.7495C>T	c.(7495-7497)Cga>Tga	p.R2499*	REV3L_ENST00000435970.1_Nonsense_Mutation_p.R2421*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.R2499*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.R2499*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2499					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R2421*(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GACAAGACTCGAAAGGTAAAG	0.353								DNA polymerases (catalytic subunits)																													p.R2499X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C7495T	6						.						66.0	62.0	63.0					6																	111665171		2203	4300	6503	111771864	SO:0001587	stop_gained	5980	exon21			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7495C>T	6.37:g.111665171G>A	ENSP00000351697:p.Arg2499*		111771864	NM_002912	O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	50	17.244263	0.99882	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4438	20.1935	0.98237	0.0:0.0:1.0:0.0	.	.	.	.	X	2499;2499;2499;2421;572	.	ENSP00000351697:R2499X	R	-	1	2	REV3L	111771864	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.215000	0.95146	2.779000	0.95612	0.591000	0.81541	CGA		0.353	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111689123	111689123	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:111689123G>A	ENST00000358835.3	-	15	6322	c.5868C>T	c.(5866-5868)ttC>ttT	p.F1956F	REV3L_ENST00000435970.1_Silent_p.F1878F|REV3L_ENST00000368802.3_Silent_p.F1956F|REV3L_ENST00000368805.1_Silent_p.F1956F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1956					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.F1878F(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCATTGCTGAGAATGCTGTTT	0.478								DNA polymerases (catalytic subunits)																													p.F1956F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5868T	6						.						84.0	81.0	82.0					6																	111689123		2203	4300	6503	111795816	SO:0001819	synonymous_variant	5980	exon14			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5868C>T	6.37:g.111689123G>A			111795816	NM_002912	O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	CCDS5091.2																																																																																				0.478	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
REV3L	5980	broad.mit.edu	37	6	111693940	111693940	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:111693940C>T	ENST00000358835.3	-	14	6072	c.5618G>A	c.(5617-5619)cGa>cAa	p.R1873Q	REV3L_ENST00000435970.1_Missense_Mutation_p.R1795Q|REV3L_ENST00000368802.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R1873Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1873	Mediates interaction with MAD2L2.				DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.R1795Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGCAGTTCGAGGGGTGAA	0.413								DNA polymerases (catalytic subunits)																													p.R1873Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5618A	6						.						185.0	190.0	189.0					6																	111693940		2203	4300	6503	111800633	SO:0001583	missense	5980	exon13			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5618G>A	6.37:g.111693940C>T	ENSP00000351697:p.Arg1873Gln		111800633	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530228	0.85706	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01548	4.87;4.87;4.87;4.78	5.93	5.93	0.95920	Ribonuclease H-like (1);	0.082380	0.50627	D	0.000107	T	0.03783	0.0107	L	0.51422	1.61	0.46044	D	0.998832	D	0.76494	0.999	P	0.57204	0.815	T	0.55915	-0.8065	10	0.49607	T	0.09	-3.391	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1873	O60673	DPOLZ_HUMAN	Q	1873;1873;1873;1795	ENSP00000357792:R1873Q;ENSP00000357795:R1873Q;ENSP00000351697:R1873Q;ENSP00000402003:R1795Q	ENSP00000351697:R1873Q	R	-	2	0	REV3L	111800633	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.232000	0.78116	2.805000	0.96524	0.655000	0.94253	CGA		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
LAMA4	3910	broad.mit.edu	37	6	112460992	112460992	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:112460992G>T	ENST00000230538.7	-	23	3469	c.3072C>A	c.(3070-3072)atC>atA	p.I1024I	LAMA4_ENST00000522006.1_Silent_p.I1017I|LAMA4_ENST00000389463.4_Silent_p.I1017I|LAMA4_ENST00000424408.2_Silent_p.I1017I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1024	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.I1017I(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCATATTATAGATGTGCTTAA	0.448																																					p.I1017I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3051A	6						.						120.0	114.0	116.0					6																	112460992		2203	4300	6503	112567685	SO:0001819	synonymous_variant	3910	exon23				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3072C>A	6.37:g.112460992G>T			112567685	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																				0.448	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
LAMA4	3910	broad.mit.edu	37	6	112486406	112486406	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:112486406T>C	ENST00000230538.7	-	13	2021	c.1624A>G	c.(1624-1626)Aca>Gca	p.T542A	LAMA4_ENST00000522006.1_Missense_Mutation_p.T535A|LAMA4_ENST00000389463.4_Missense_Mutation_p.T535A|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.T535A	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	542	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.T535A(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CGAGGTGTTGTCAGAGAGTCC	0.458																																					p.T535A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1603G	6						.						172.0	154.0	160.0					6																	112486406		2203	4300	6503	112593099	SO:0001583	missense	3910	exon13				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1624A>G	6.37:g.112486406T>C	ENSP00000230538:p.Thr542Ala		112593099	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	5.160	0.215134	0.09810	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.04	-1.84	0.07809	Laminin I (1);	1.398810	0.04262	N	0.340521	T	0.01254	0.0041	N	0.19112	0.55	0.24316	N	0.995062	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31586	-0.9938	10	0.02654	T	1	.	4.7961	0.13272	0.1894:0.5001:0.0:0.3105	.	542;535	Q16363;Q16363-2	LAMA4_HUMAN;.	A	542;535;535;535	ENSP00000230538:T542A;ENSP00000429488:T535A;ENSP00000374114:T535A;ENSP00000416470:T535A	ENSP00000230538:T542A	T	-	1	0	LAMA4	112593099	0.008000	0.16893	0.015000	0.15790	0.091000	0.18340	0.262000	0.18460	-0.272000	0.09259	0.397000	0.26171	ACA		0.458	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
LAMA4	3910	broad.mit.edu	37	6	112537590	112537590	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:112537590C>T	ENST00000230538.7	-	3	673	c.276G>A	c.(274-276)ttG>ttA	p.L92L	LAMA4_ENST00000522006.1_Silent_p.L92L|LAMA4_ENST00000389463.4_Silent_p.L92L|LAMA4_ENST00000431543.2_Silent_p.L92L|LAMA4_ENST00000524032.1_5'UTR|RP1-142L7.9_ENST00000603682.1_lincRNA|LAMA4_ENST00000424408.2_Silent_p.L92L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	92	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.L92L(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTGAGCCGTCCAAACACTCGT	0.463																																					p.L92L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G276A	6						.						128.0	105.0	113.0					6																	112537590		2203	4300	6503	112644283	SO:0001819	synonymous_variant	3910	exon3				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.276G>A	6.37:g.112537590C>T			112644283	NM_001105207	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																				0.463	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
FRK	2444	broad.mit.edu	37	6	116381464	116381464	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:116381464A>G	ENST00000606080.1	-	1	457	c.11T>C	c.(10-12)aTc>aCc	p.I4T		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	4					cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.I4T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	CCTCTGACAGATGTTGCTCAT	0.537																																					p.I4T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T11C	6						.						90.0	79.0	83.0					6																	116381464		2203	4300	6503	116488157	SO:0001583	missense	2444	exon1			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.11T>C	6.37:g.116381464A>G	ENSP00000476145:p.Ile4Thr		116488157	NM_002031	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	A	4.459	0.084974	0.08583	.	.	ENSG00000111816	ENST00000368626	T	0.74209	-0.82	4.74	3.58	0.41010	.	0.673556	0.12497	N	0.463729	T	0.28995	0.0720	N	0.08118	0	0.19300	N	0.999978	B	0.02656	0.0	B	0.01281	0.0	T	0.17440	-1.0369	10	0.24483	T	0.36	.	6.1385	0.20247	0.754:0.1622:0.0839:0.0	.	4	P42685	FRK_HUMAN	T	4	ENSP00000357615:I4T	ENSP00000357615:I4T	I	-	2	0	FRK	116488157	0.013000	0.17824	0.001000	0.08648	0.010000	0.07245	1.840000	0.39230	0.944000	0.37579	0.533000	0.62120	ATC		0.537	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
TSPYL4	23270	broad.mit.edu	37	6	116573986	116573986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:116573986G>A	ENST00000420283.1	-	1	1275	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	396					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.R396*(1)		endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GGTGGGCCTCGAATTCCTCTA	0.512																																					p.R396X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1186T	6						.						36.0	39.0	38.0					6																	116573986		1915	4119	6034	116680679	SO:0001587	stop_gained	23270	exon1				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.1186C>T	6.37:g.116573986G>A	ENSP00000410943:p.Arg396*		116680679	NM_021648	B4DYQ2|O94828|Q96GW8	Nonsense_Mutation	SNP	ENST00000420283.1	37	CCDS5106.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544328	0.96488	.	.	ENSG00000187189	ENST00000420283	.	.	.	3.77	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.37607	D	0.920775	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3502	8.6455	0.34003	0.0:0.0:0.7721:0.2279	.	.	.	.	X	396	.	ENSP00000410943:R396X	R	-	1	2	TSPYL4	116680679	0.947000	0.32204	0.416000	0.26546	0.995000	0.86356	1.057000	0.30492	1.148000	0.42385	0.491000	0.48974	CGA		0.512	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2		
TSPYL4	23270	broad.mit.edu	37	6	116574447	116574447	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:116574447C>T	ENST00000420283.1	-	1	814	c.725G>A	c.(724-726)cGc>cAc	p.R242H	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	242					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.R242H(1)		endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GAAACTTCTGCGCTGCATGTG	0.517																																					p.R242H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G725A	6						.						34.0	35.0	35.0					6																	116574447		1975	4180	6155	116681140	SO:0001583	missense	23270	exon1				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.725G>A	6.37:g.116574447C>T	ENSP00000410943:p.Arg242His		116681140	NM_021648	B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	ENST00000420283.1	37	CCDS5106.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301886	0.81136	.	.	ENSG00000187189	ENST00000420283	T	0.27104	1.69	3.98	3.98	0.46160	.	.	.	.	.	T	0.32255	0.0823	M	0.79475	2.455	0.32472	N	0.542668	D	0.56968	0.978	P	0.59643	0.861	T	0.16630	-1.0396	9	0.52906	T	0.07	-10.2817	7.7625	0.28961	0.0:0.8905:0.0:0.1095	.	242	Q9UJ04	TSYL4_HUMAN	H	242	ENSP00000410943:R242H	ENSP00000410943:R242H	R	-	2	0	TSPYL4	116681140	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.321000	0.33678	2.514000	0.84764	0.462000	0.41574	CGC		0.517	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041934.2		
RWDD1	51389	broad.mit.edu	37	6	116910112	116910112	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:116910112G>T	ENST00000466444.2	+	4	594	c.378G>T	c.(376-378)aaG>aaT	p.K126N	RWDD1_ENST00000392526.1_Missense_Mutation_p.K30N|RWDD1_ENST00000487832.2_Missense_Mutation_p.K30N	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	126				TRREEEKKQKE -> LEERRKNKR (in Ref. 1; AAD27733). {ECO:0000305}.				p.K126N(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		aagaagaaaagaaacaaaaag	0.294																																					p.K30N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G90T	6						.						25.0	28.0	27.0					6																	116910112		2190	4277	6467	117016805	SO:0001583	missense	51389	exon5			AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	ENST00000466444.2:c.378G>T	6.37:g.116910112G>T	ENSP00000420357:p.Lys126Asn		117016805	NM_001007464	A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Missense_Mutation	SNP	ENST00000466444.2	37	CCDS34520.1	.	.	.	.	.	.	.	.	.	.	G	7.135	0.580628	0.13686	.	.	ENSG00000111832	ENST00000466444;ENST00000368590;ENST00000392526;ENST00000487832;ENST00000518117;ENST00000468204	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	5.22	3.43	0.39272	.	0.452373	0.25765	N	0.028442	T	0.32645	0.0836	M	0.79693	2.465	0.80722	D	1	B	0.15141	0.012	B	0.17979	0.02	T	0.31503	-0.9941	10	0.72032	D	0.01	-16.0376	8.4658	0.32956	0.2427:0.0:0.7573:0.0	.	126	Q9H446	RWDD1_HUMAN	N	126;30;30;30;30;30	ENSP00000420357:K126N;ENSP00000429070:K30N;ENSP00000376311:K30N;ENSP00000428778:K30N;ENSP00000429942:K30N;ENSP00000428704:K30N	ENSP00000429070:K30N	K	+	3	2	RWDD1	117016805	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	1.285000	0.33261	0.572000	0.29383	0.585000	0.79938	AAG		0.294	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041952.2	NM_015952	
ZUFSP	221302	broad.mit.edu	37	6	116988028	116988028	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:116988028C>A	ENST00000368576.3	-	2	571	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ZUFSP_ENST00000368573.1_Missense_Mutation_p.D110Y|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	110							metal ion binding (GO:0046872)	p.D110Y(1)		NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AAAGTACTATCTTTAGTCAGG	0.353																																					p.D110Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G328T	6						.						119.0	113.0	115.0					6																	116988028		2203	4300	6503	117094721	SO:0001583	missense	221302	exon2			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.328G>T	6.37:g.116988028C>A	ENSP00000357565:p.Asp110Tyr		117094721	NM_145062	Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	C	6.790	0.514777	0.12944	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T	0.47528	0.84	5.44	3.66	0.41972	.	0.477817	0.25467	N	0.030477	T	0.21062	0.0507	L	0.51422	1.61	0.18873	N	0.999983	B	0.31054	0.306	B	0.24541	0.054	T	0.09596	-1.0667	10	0.59425	D	0.04	4.4014	10.1042	0.42524	0.0:0.8375:0.0:0.1625	.	110	Q96AP4	ZUFSP_HUMAN	Y	110	ENSP00000357565:D110Y	ENSP00000357562:D110Y	D	-	1	0	ZUFSP	117094721	0.008000	0.16893	0.124000	0.21820	0.182000	0.23217	0.716000	0.25836	0.847000	0.35167	0.655000	0.94253	GAT		0.353	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062	
KPNA5	3841	broad.mit.edu	37	6	117010523	117010523	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:117010523A>C	ENST00000368564.1	+	2	193	c.45A>C	c.(43-45)aaA>aaC	p.K15N	KPNA5_ENST00000356348.1_Missense_Mutation_p.K15N			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	12	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.K15N(1)		breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		ATAGAATGAAAAGTTATAAGA	0.373																																					p.K15N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A45C	6						.						128.0	140.0	136.0					6																	117010523		2203	4299	6502	117117216	SO:0001583	missense	3841	exon2			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.45A>C	6.37:g.117010523A>C	ENSP00000357552:p.Lys15Asn		117117216	NM_002269	B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	A	12.08	1.831750	0.32421	.	.	ENSG00000196911	ENST00000368564;ENST00000413340;ENST00000356348	T;T;T	0.31247	1.5;1.5;1.5	5.41	4.26	0.50523	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.064904	0.64402	N	0.000016	T	0.08179	0.0204	L	0.33668	1.02	0.32306	N	0.564325	B	0.10296	0.003	B	0.17979	0.02	T	0.25293	-1.0136	10	0.17832	T	0.49	.	8.1547	0.31162	0.8458:0.0:0.1542:0.0	.	12	O15131	IMA5_HUMAN	N	15;12;15	ENSP00000357552:K15N;ENSP00000396791:K12N;ENSP00000348704:K15N	ENSP00000348704:K15N	K	+	3	2	KPNA5	117117216	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.284000	0.33249	0.905000	0.36596	0.533000	0.62120	AAA		0.373	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269	
KPNA5	3841	broad.mit.edu	37	6	117023261	117023261	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:117023261T>C	ENST00000368564.1	+	6	663	c.515T>C	c.(514-516)gTt>gCt	p.V172A	KPNA5_ENST00000356348.1_Missense_Mutation_p.V172A			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	169	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.V172A(1)		breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		ACTGGGGCTGTTCCGATTTTT	0.348																																					p.V172A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T515C	6						.						114.0	113.0	113.0					6																	117023261		2203	4300	6503	117129954	SO:0001583	missense	3841	exon6			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.515T>C	6.37:g.117023261T>C	ENSP00000357552:p.Val172Ala		117129954	NM_002269	B2RAI5|Q86X23	Missense_Mutation	SNP	ENST00000368564.1	37	CCDS5111.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687548	0.88639	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.75704	-0.96;-0.96	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	D	0.87645	0.6229	M	0.92412	3.305	0.52099	D	0.999946	D	0.89917	1.0	D	0.91635	0.999	D	0.90851	0.4731	10	0.87932	D	0	.	15.5932	0.76554	0.0:0.0:0.0:1.0	.	169	O15131	IMA5_HUMAN	A	172	ENSP00000357552:V172A;ENSP00000348704:V172A	ENSP00000348704:V172A	V	+	2	0	KPNA5	117129954	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.376000	0.79658	2.097000	0.63578	0.482000	0.46254	GTT		0.348	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	NM_002269	
ROS1	6098	broad.mit.edu	37	6	117683906	117683906	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:117683906T>G	ENST00000368508.3	-	21	3439	c.3241A>C	c.(3241-3243)Aaa>Caa	p.K1081Q	ROS1_ENST00000368507.3_Missense_Mutation_p.K1076Q|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1081	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K1081Q(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTTCAAATTTTGTTAACACC	0.338			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.K1081Q			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3241C	6						.						114.0	120.0	118.0					6																	117683906		2203	4300	6503	117790599	SO:0001583	missense	6098	exon21			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3241A>C	6.37:g.117683906T>G	ENSP00000357494:p.Lys1081Gln		117790599	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	7.164	0.586305	0.13749	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.58210	0.35;0.35	5.13	3.96	0.45880	.	0.730148	0.13541	N	0.380208	T	0.13500	0.0327	N	0.11201	0.11	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.12941	-1.0528	10	0.21540	T	0.41	.	6.7228	0.23340	0.0:0.0843:0.2463:0.6694	.	1081	P08922	ROS1_HUMAN	Q	1081;1076	ENSP00000357494:K1081Q;ENSP00000357493:K1076Q	ENSP00000357493:K1076Q	K	-	1	0	ROS1	117790599	0.423000	0.25482	0.988000	0.46212	0.642000	0.38348	1.469000	0.35343	1.052000	0.40392	0.533000	0.62120	AAA		0.338	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117686783	117686783	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:117686783A>G	ENST00000368508.3	-	19	3132	c.2934T>C	c.(2932-2934)ggT>ggC	p.G978G	ROS1_ENST00000368507.3_Silent_p.G973G|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	978	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G978G(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGAAAACTACACCCCAGTCTA	0.413			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.G978G			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2934C	6						.						76.0	68.0	71.0					6																	117686783		2203	4300	6503	117793476	SO:0001819	synonymous_variant	6098	exon19			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2934T>C	6.37:g.117686783A>G			117793476	NM_002944	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																				0.413	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117686879	117686879	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:117686879A>G	ENST00000368508.3	-	19	3036	c.2838T>C	c.(2836-2838)gtT>gtC	p.V946V	ROS1_ENST00000368507.3_Silent_p.V941V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	946					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V946V(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATCTGGAATAACCTTAGGGG	0.373			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.V946V			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T2838C	6						.						36.0	36.0	36.0					6																	117686879		2203	4300	6503	117793572	SO:0001819	synonymous_variant	6098	exon19			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2838T>C	6.37:g.117686879A>G			117793572	NM_002944	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																				0.373	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
ROS1	6098	broad.mit.edu	37	6	117706977	117706977	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:117706977C>T	ENST00000368508.3	-	15	2371	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	ROS1_ENST00000368507.3_Missense_Mutation_p.D720N|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	725					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D725N(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACAAAAACGTCGCCTTTCGTG	0.428			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.D725N			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2173A	6						.						138.0	123.0	128.0					6																	117706977		2203	4300	6503	117813670	SO:0001583	missense	6098	exon15			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2173G>A	6.37:g.117706977C>T	ENSP00000357494:p.Asp725Asn		117813670	NM_002944	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.220299	0.01542	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90844	-2.74;-2.74	5.37	3.57	0.40892	.	0.648009	0.15688	N	0.249598	T	0.60392	0.2265	N	0.12182	0.205	0.30685	N	0.751981	B	0.14438	0.01	B	0.06405	0.002	T	0.39623	-0.9605	10	0.10902	T	0.67	.	5.7956	0.18385	0.0:0.6192:0.1415:0.2393	.	725	P08922	ROS1_HUMAN	N	725;720	ENSP00000357494:D725N;ENSP00000357493:D720N	ENSP00000357493:D720N	D	-	1	0	ROS1	117813670	0.024000	0.19004	0.144000	0.22314	0.361000	0.29550	0.130000	0.15850	0.814000	0.34374	0.655000	0.94253	GAC		0.428	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
GOPC	57120	broad.mit.edu	37	6	117896382	117896382	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:117896382G>A	ENST00000368498.2	-	4	683	c.608C>T	c.(607-609)gCg>gTg	p.A203V	GOPC_ENST00000535237.1_Missense_Mutation_p.A203V|GOPC_ENST00000052569.6_Missense_Mutation_p.A195V|GOPC_ENST00000467125.1_5'Flank	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	203					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)	p.A203V(1)	GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		AGCTAGTCTCGCCCCATATAC	0.398			O	ROS1	glioblastoma																																p.A203V			Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C608T	6						.						141.0	125.0	130.0					6																	117896382		2203	4300	6503	118003075	SO:0001583	missense	57120	exon4			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.608C>T	6.37:g.117896382G>A	ENSP00000357484:p.Ala203Val		118003075	NM_020399	A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	G	32	5.144215	0.94603	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.40476	1.03;2.01;1.03	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62987	-0.6737	10	0.72032	D	0.01	-17.3443	16.6718	0.85269	0.0:0.1292:0.8708:0.0	.	195;203	Q9HD26-2;Q9HD26	.;GOPC_HUMAN	V	195;203;203	ENSP00000052569:A195V;ENSP00000357484:A203V;ENSP00000445690:A203V	ENSP00000052569:A195V	A	-	2	0	GOPC	118003075	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.003000	0.88520	2.660000	0.90430	0.591000	0.81541	GCG		0.398	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399	
CEP85L	387119	broad.mit.edu	37	6	118802979	118802979	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:118802979T>G	ENST00000368491.3	-	8	2329	c.1708A>C	c.(1708-1710)Aaa>Caa	p.K570Q	CEP85L_ENST00000368488.5_Missense_Mutation_p.K573Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	570						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K570Q(1)									TCTTTCTTTTTCTGGCATATT	0.279																																					p.K573Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1717C	6						.						60.0	51.0	54.0					6																	118802979		1792	4059	5851	118909672	SO:0001583	missense	387119	exon9			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1708A>C	6.37:g.118802979T>G	ENSP00000357477:p.Lys570Gln		118909672	NM_001178035	A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507018	0.64410	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	T;T;T	0.12255	2.7;2.7;2.7	5.05	3.8	0.43715	.	0.272899	0.34002	N	0.004341	T	0.13798	0.0334	L	0.59436	1.845	0.37127	D	0.901103	D;D	0.56746	0.977;0.977	P;P	0.53593	0.73;0.73	T	0.02121	-1.1210	10	0.36615	T	0.2	-22.5628	12.1159	0.53866	0.0:0.0:0.1424:0.8576	.	573;570	F8W6J2;Q5SZL2	.;CF204_HUMAN	Q	570;573;573	ENSP00000357477:K570Q;ENSP00000357474:K573Q;ENSP00000392131:K573Q	ENSP00000357474:K573Q	K	-	1	0	C6orf204	118909672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.331000	0.52075	2.017000	0.59298	0.459000	0.35465	AAA		0.279	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475	
HIVEP1	3096	broad.mit.edu	37	6	12121445	12121445	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:12121445T>G	ENST00000379388.2	+	4	1749	c.1417T>G	c.(1417-1419)Ttg>Gtg	p.L473V		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	473					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)	p.L473V(1)		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)				TGCTGGTGGCTTGTTCTTGTC	0.463																																					p.L473V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1417G	6						.						69.0	72.0	71.0					6																	12121445		2033	4179	6212	12229431	SO:0001583	missense	3096	exon4			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.1417T>G	6.37:g.12121445T>G	ENSP00000368698:p.Leu473Val		12229431	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690246	0.48097	.	.	ENSG00000095951	ENST00000379388	T	0.09911	2.93	5.33	5.33	0.75918	.	0.000000	0.28653	N	0.014588	T	0.07683	0.0193	M	0.61703	1.905	0.80722	D	1	D	0.54601	0.967	P	0.47402	0.546	T	0.12967	-1.0527	9	.	.	.	.	5.526	0.16959	0.154:0.0866:0.0:0.7594	.	473	P15822	ZEP1_HUMAN	V	473	ENSP00000368698:L473V	.	L	+	1	2	HIVEP1	12229431	0.992000	0.36948	0.997000	0.53966	0.946000	0.59487	2.188000	0.42612	2.014000	0.59158	0.533000	0.62120	TTG		0.463	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
HIVEP1	3096	broad.mit.edu	37	6	12124192	12124192	+	Silent	SNP	C	C	T	rs371406056		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:12124192C>T	ENST00000379388.2	+	4	4496	c.4164C>T	c.(4162-4164)ttC>ttT	p.F1388F	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1388					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)	p.F1388L(1)|p.F1388F(1)		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)				GCAAATCATTCGATTGTGGAA	0.498																																					p.F1388F												HIVEP1,central_nervous_system,brain,Substitution - Missense,0 	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|central_nervous_system(1)	c.C4164T	6						.						131.0	132.0	132.0					6																	12124192		2048	4200	6248	12232178	SO:0001819	synonymous_variant	3096	exon4			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.4164C>T	6.37:g.12124192C>T			12232178	NM_002114	B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	CCDS43426.1																																																																																				0.498	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
ASF1A	25842	broad.mit.edu	37	6	119221981	119221981	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:119221981G>A	ENST00000229595.5	+	2	354	c.160G>A	c.(160-162)Gat>Aat	p.D54N	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	54	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)	p.D54N(1)		endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TGAAGAATACGATCAAGTTTT	0.353																																					p.R18Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G53A	6						.						263.0	260.0	261.0					6																	119221981		1851	4090	5941	119263680	SO:0001583	missense	25842	exon1			AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.160G>A	6.37:g.119221981G>A	ENSP00000229595:p.Asp54Asn		119263680	NM_014034	Q6IA08|Q9P014	Missense_Mutation	SNP	ENST00000229595.5	37	CCDS47469.1	.	.	.	.	.	.	.	.	.	.	G	36	5.785556	0.96937	.	.	ENSG00000111875	ENST00000229595	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91601	0.5295	9	0.87932	D	0	-19.8968	20.2985	0.98592	0.0:0.0:1.0:0.0	.	54	Q9Y294	ASF1A_HUMAN	N	54	.	ENSP00000229595:D54N	D	+	1	0	ASF1A	119263680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAT		0.353	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361910.1	NM_014034	
HSF2	3298	broad.mit.edu	37	6	122734703	122734703	+	Missense_Mutation	SNP	C	C	T	rs144007130	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:122734703C>T	ENST00000368455.4	+	4	556	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	HSF2_ENST00000452194.1_Missense_Mutation_p.R122C	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	122	Hydrophobic repeat HR-A/B.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R122C(1)		large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		AAATAAAATTCGTCAGGAAGA	0.303																																					p.R122C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C364T	6						.	C	CYS/ARG,CYS/ARG	0,4390		0,0,2195	34.0	35.0	35.0		364,364	5.5	1.0	6	dbSNP_134	35	2,8592	1.2+/-3.3	0,2,4295	no	missense,missense	HSF2	NM_001135564.1,NM_004506.3	180,180	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	122/519,122/537	122734703	2,12982	2195	4297	6492	122776402	SO:0001583	missense	3298	exon4			M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.364C>T	6.37:g.122734703C>T	ENSP00000357440:p.Arg122Cys		122776402	NM_004506	B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873485	0.51695	0.0	2.33E-4	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.52	5.52	0.82312	.	0.052493	0.85682	D	0.000000	T	0.47229	0.1434	L	0.56199	1.76	0.80722	D	1	B;B;B	0.24675	0.109;0.037;0.018	B;B;B	0.18263	0.021;0.009;0.002	T	0.50931	-0.8769	9	0.59425	D	0.04	-3.8388	16.1186	0.81325	0.1341:0.8659:0.0:0.0	.	122;122;122	Q03933-2;Q03933;Q9BS48	.;HSF2_HUMAN;.	C	122	.	ENSP00000357440:R122C	R	+	1	0	HSF2	122776402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.372000	0.52387	2.739000	0.93911	0.655000	0.94253	CGT		0.303	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506	
TRMT11	60487	broad.mit.edu	37	6	126319743	126319743	+	Silent	SNP	G	G	A	rs186317882		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:126319743G>A	ENST00000334379.5	+	6	556	c.435G>A	c.(433-435)ccG>ccA	p.P145P	TRMT11_ENST00000450358.1_Silent_p.P145P|TRMT11_ENST00000368332.3_Silent_p.P145P	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	145					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.P145P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TAAAGAAACCGCAACATGTAT	0.318																																					p.P145P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G435A	6						.						93.0	93.0	93.0					6																	126319743		2203	4300	6503	126361436	SO:0001819	synonymous_variant	60487	exon6			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.435G>A	6.37:g.126319743G>A			126361436	NM_001031712	E1P570|Q5JY11|Q6PGQ5|Q9HC13	Silent	SNP	ENST00000334379.5	37	CCDS35496.1																																																																																				0.318	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820	
SOGA3	387104	broad.mit.edu	37	6	127797353	127797353	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:127797353G>A	ENST00000525778.1	-	6	2563	c.1818C>T	c.(1816-1818)gtC>gtT	p.V606V	SOGA3_ENST00000368268.2_Silent_p.V606V|SOGA3_ENST00000465909.2_Silent_p.V606V|SOGA3_ENST00000481848.2_Silent_p.V606V|SOGA3_ENST00000556132.1_Silent_p.V606V|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	606					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.V606V(1)									CCTCCAGTTCGACGATTTTCC	0.612																																					p.V606V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1818T	6						.						155.0	165.0	162.0					6																	127797353		2138	4259	6397	127839046	SO:0001819	synonymous_variant	387104	exon6			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1818C>T	6.37:g.127797353G>A			127839046	NM_001012279		Silent	SNP	ENST00000525778.1	37	CCDS43505.1																																																																																				0.612	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
THEMIS	387357	broad.mit.edu	37	6	128134768	128134768	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:128134768C>T	ENST00000368248.2	-	4	1166	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	THEMIS_ENST00000537166.1_Missense_Mutation_p.G305S|THEMIS_ENST00000543064.1_Missense_Mutation_p.G340S|THEMIS_ENST00000368250.1_Missense_Mutation_p.G261S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	340	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G340S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTGAACTTGCCTTTATAGCTA	0.463																																					p.G340S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1018A	6						.						86.0	90.0	89.0					6																	128134768		2203	4300	6503	128176461	SO:0001583	missense	387357	exon4			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1018G>A	6.37:g.128134768C>T	ENSP00000357231:p.Gly340Ser		128176461	NM_001010923	A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424329	0.83667	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.83603	2.65	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62034	-0.6939	10	0.87932	D	0	-10.5942	19.2983	0.94132	0.0:1.0:0.0:0.0	.	340;340	F5H1J9;Q8N1K5	.;THMS1_HUMAN	S	261;340;340;305;108	ENSP00000357233:G261S;ENSP00000439594:G340S;ENSP00000357231:G340S;ENSP00000439863:G305S;ENSP00000387740:G108S	ENSP00000357231:G340S	G	-	1	0	THEMIS	128176461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.223000	0.72257	2.567000	0.86603	0.462000	0.41574	GGC		0.463	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923	
PTPRK	5796	broad.mit.edu	37	6	128298080	128298080	+	Silent	SNP	G	G	A	rs147499921	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:128298080G>A	ENST00000368215.3	-	26	3827	c.3828C>T	c.(3826-3828)gtC>gtT	p.V1276V	PTPRK_ENST00000368227.3_Silent_p.V1294V|PTPRK_ENST00000532331.1_Silent_p.V1299V|PTPRK_ENST00000368207.3_Silent_p.V1309V|PTPRK_ENST00000368226.4_Silent_p.V1277V|PTPRK_ENST00000368213.5_Silent_p.V1283V|PTPRK_ENST00000368210.3_Silent_p.V1295V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1276	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V1277V(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGACAAGTCGACTTCGTTTA	0.363																																					p.V1277V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3831T	6						.	G	,	0,4406		0,0,2203	127.0	117.0	120.0		3849,3831	0.4	1.0	6	dbSNP_134	120	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	PTPRK	NM_001135648.1,NM_002844.3	,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,	1283/1447,1277/1441	128298080	5,13001	2203	4300	6503	128339773	SO:0001819	synonymous_variant	5796	exon26			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3828C>T	6.37:g.128298080G>A			128339773	NM_002844	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37																																																																																					0.363	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
PTPRK	5796	broad.mit.edu	37	6	128304413	128304413	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:128304413G>A	ENST00000368215.3	-	23	3357	c.3358C>T	c.(3358-3360)Cgg>Tgg	p.R1120W	PTPRK_ENST00000368227.3_Missense_Mutation_p.R1138W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R1143W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1153W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1121W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1127W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1139W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1120	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1121W(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTAATACGCCGAGATCTTAAG	0.368																																					p.R1121W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3361T	6						.						82.0	69.0	73.0					6																	128304413		2203	4300	6503	128346106	SO:0001583	missense	5796	exon23			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3358C>T	6.37:g.128304413G>A	ENSP00000357198:p.Arg1120Trp		128346106	NM_002844	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.100455	0.76983	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.57	5.57	0.84162	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.052773	0.64402	D	0.000001	D	0.88952	0.6577	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;P;P	0.87578	0.998;0.984;0.904;0.845	D	0.89587	0.3825	10	0.87932	D	0	.	18.5264	0.90974	0.0:0.0:1.0:0.0	.	1143;1127;1120;1121	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	W	1121;1138;1143;1127;1139;1120;1153	ENSP00000357209:R1121W;ENSP00000357210:R1138W;ENSP00000432973:R1143W;ENSP00000357196:R1127W;ENSP00000357193:R1139W;ENSP00000357198:R1120W;ENSP00000357190:R1153W	ENSP00000357190:R1153W	R	-	1	2	PTPRK	128346106	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	5.157000	0.64911	2.623000	0.88846	0.585000	0.79938	CGG		0.368	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
LAMA2	3908	broad.mit.edu	37	6	129475658	129475658	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:129475658T>C	ENST00000421865.2	+	8	1085	c.1036T>C	c.(1036-1038)Tgt>Cgt	p.C346R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	346	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.C346R(1)		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)		AGCATGCAATTGTCATGGAAA	0.294																																					p.C346R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1036C	6						.						62.0	64.0	64.0					6																	129475658		2203	4300	6503	129517351	SO:0001583	missense	3908	exon8			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.1036T>C	6.37:g.129475658T>C	ENSP00000400365:p.Cys346Arg		129517351	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262682	0.80358	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.95307	-3.67	6.06	6.06	0.98353	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99741	1.1015	10	0.87932	D	0	.	16.2769	0.82647	0.0:0.0:0.0:1.0	.	346;346	A6NF00;P24043	.;LAMA2_HUMAN	R	346	ENSP00000400365:C346R	ENSP00000346769:C346R	C	+	1	0	LAMA2	129517351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.315000	0.78130	0.533000	0.62120	TGT		0.294	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129813206	129813206	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:129813206C>A	ENST00000421865.2	+	57	8108	c.8059C>A	c.(8059-8061)Ctt>Att	p.L2687I	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2687	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.L2687I(1)		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)		CATATGGAATCTTGTTATTAA	0.383																																					p.L2683I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8047A	6						.						79.0	82.0	81.0					6																	129813206		2203	4300	6503	129854899	SO:0001583	missense	3908	exon56			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.8059C>A	6.37:g.129813206C>A	ENSP00000400365:p.Leu2687Ile		129854899	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806847	0.70797	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.76448	-1.02	5.42	3.63	0.41609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.054736	0.64402	D	0.000001	T	0.74007	0.3660	M	0.79926	2.475	0.47905	D	0.999548	P;P	0.48834	0.916;0.916	P;P	0.48089	0.566;0.566	T	0.75147	-0.3420	9	.	.	.	.	11.1864	0.48660	0.0:0.8021:0.1286:0.0693	.	2688;2687	A6NF00;P24043	.;LAMA2_HUMAN	I	2687;2686;2687;705	ENSP00000400365:L2687I	.	L	+	1	0	LAMA2	129854899	1.000000	0.71417	0.995000	0.50966	0.871000	0.50021	2.309000	0.43699	0.761000	0.33130	0.563000	0.77884	CTT		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
LAMA2	3908	broad.mit.edu	37	6	129826378	129826378	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:129826378C>A	ENST00000421865.2	+	61	8630	c.8581C>A	c.(8581-8583)Ctt>Att	p.L2861I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2861	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.L2861I(1)		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)		AGAAGGAATTCTTTATGTAGA	0.393																																					p.L2857I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8569A	6						.						83.0	87.0	85.0					6																	129826378		2203	4300	6503	129868071	SO:0001583	missense	3908	exon60			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.8581C>A	6.37:g.129826378C>A	ENSP00000400365:p.Leu2861Ile		129868071	NM_001079823	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	6.731	0.503687	0.12822	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.78126	-1.15	5.72	1.75	0.24633	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.171357	0.52532	N	0.000063	T	0.43831	0.1265	L	0.31120	0.905	0.25021	N	0.991334	B;B	0.17667	0.023;0.023	B;B	0.28991	0.097;0.097	T	0.39781	-0.9597	9	.	.	.	.	7.1536	0.25624	0.3576:0.5188:0.0:0.1236	.	2862;2861	A6NF00;P24043	.;LAMA2_HUMAN	I	2861;2860;2861;879	ENSP00000400365:L2861I	.	L	+	1	0	LAMA2	129868071	0.414000	0.25408	0.998000	0.56505	0.720000	0.41350	0.756000	0.26419	0.297000	0.22615	0.655000	0.94253	CTT		0.393	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
ENPP3	5169	broad.mit.edu	37	6	131958594	131958594	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:131958594G>A	ENST00000414305.1	+	2	398	c.70G>A	c.(70-72)Gct>Act	p.A24T	ENPP3_ENST00000357639.3_Missense_Mutation_p.A24T|ENPP3_ENST00000543135.1_5'UTR|ENPP3_ENST00000427148.2_5'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.A24T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	24					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.A24T(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATATAAAATAGCTTGCATTGT	0.313																																					p.A24T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70A	6						.						75.0	76.0	76.0					6																	131958594		2203	4300	6503	132000287	SO:0001583	missense	5169	exon1			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.70G>A	6.37:g.131958594G>A	ENSP00000406261:p.Ala24Thr		132000287	NM_005021	Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	9.283	1.048560	0.19827	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.74315	-0.75;-0.75;-0.83	5.48	-5.28	0.02755	.	0.971354	0.08437	N	0.945984	T	0.31606	0.0802	N	0.08118	0	0.26607	N	0.972911	B	0.23937	0.094	B	0.18871	0.023	T	0.21655	-1.0239	10	0.46703	T	0.11	-2.6989	12.7951	0.57555	0.3254:0.6017:0.0729:0.0	.	24	O14638	ENPP3_HUMAN	T	24	ENSP00000406261:A24T;ENSP00000350265:A24T;ENSP00000350964:A24T	ENSP00000350265:A24T	A	+	1	0	ENPP3	132000287	0.594000	0.26849	0.136000	0.22124	0.006000	0.05464	-0.248000	0.08854	-0.580000	0.05944	-0.302000	0.09304	GCT		0.313	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2		
ENPP3	5169	broad.mit.edu	37	6	132004258	132004258	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132004258G>A	ENST00000414305.1	+	13	1404	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	ENPP3_ENST00000357639.3_Missense_Mutation_p.R359Q|ENPP3_ENST00000358229.5_Missense_Mutation_p.R359Q			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	359	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R359Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTGAAGCAGCGGAATTTGCAC	0.348																																					p.R359Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1076A	6						.						207.0	193.0	198.0					6																	132004258		2203	4300	6503	132045951	SO:0001583	missense	5169	exon12			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1076G>A	6.37:g.132004258G>A	ENSP00000406261:p.Arg359Gln		132045951	NM_005021	Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162547	0.94727	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.74002	-0.8;-0.8;-0.8	5.7	5.7	0.88788	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000002	T	0.79913	0.4528	M	0.86573	2.825	0.80722	D	1	D	0.56746	0.977	P	0.48552	0.581	D	0.83854	0.0264	10	0.66056	D	0.02	-6.164	18.6196	0.91316	0.0:0.0:1.0:0.0	.	359	O14638	ENPP3_HUMAN	Q	359	ENSP00000406261:R359Q;ENSP00000350265:R359Q;ENSP00000350964:R359Q	ENSP00000350265:R359Q	R	+	2	0	ENPP3	132045951	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.083000	0.50136	2.705000	0.92388	0.650000	0.86243	CGG		0.348	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2		
ENPP1	5167	broad.mit.edu	37	6	132190590	132190590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132190590C>T	ENST00000360971.2	+	13	1386	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	456	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.R404*(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ACCTGCAGCTCGATTGAGACC	0.348																																					p.R456X	Colon(104;336 1535 5856 11019 33782)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1366T	6						.						73.0	75.0	75.0					6																	132190590		2203	4300	6503	132232283	SO:0001587	stop_gained	5167	exon13			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1366C>T	6.37:g.132190590C>T	ENSP00000354238:p.Arg456*		132232283	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Nonsense_Mutation	SNP	ENST00000360971.2	37	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	38	6.856035	0.97889	.	.	ENSG00000197594	ENST00000360971	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6927	18.9632	0.92684	0.0:1.0:0.0:0.0	.	.	.	.	X	456	.	ENSP00000354238:R456X	R	+	1	2	ENPP1	132232283	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.009000	0.63998	2.549000	0.85964	0.655000	0.94253	CGA		0.348	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		
ENPP1	5167	broad.mit.edu	37	6	132206138	132206138	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132206138C>T	ENST00000360971.2	+	23	2399	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	793	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.V741V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GTGTCAATGTCGTCAGTGGTC	0.378																																					p.V793V	Colon(104;336 1535 5856 11019 33782)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2379T	6						.						243.0	220.0	227.0					6																	132206138		2203	4300	6503	132247831	SO:0001819	synonymous_variant	5167	exon23			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2379C>T	6.37:g.132206138C>T			132247831	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	ENST00000360971.2	37	CCDS5150.2																																																																																				0.378	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		
ENPP1	5167	broad.mit.edu	37	6	132211584	132211584	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132211584G>T	ENST00000360971.2	+	25	2731	c.2711G>T	c.(2710-2712)aGa>aTa	p.R904I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	904	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.R852I(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TATCAACAAAGAAAAGAGCCA	0.393																																					p.R904I	Colon(104;336 1535 5856 11019 33782)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2711T	6						.						111.0	103.0	106.0					6																	132211584		2203	4300	6503	132253277	SO:0001583	missense	5167	exon25			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2711G>T	6.37:g.132211584G>T	ENSP00000354238:p.Arg904Ile		132253277	NM_006208	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368226	0.82463	.	.	ENSG00000197594	ENST00000360971	T	0.68479	-0.33	5.82	5.82	0.92795	Extracellular Endonuclease, subunit A (2);	0.241327	0.43747	D	0.000531	T	0.79275	0.4418	M	0.83953	2.67	0.80722	D	1	D	0.59357	0.985	D	0.68943	0.961	T	0.80455	-0.1375	10	0.54805	T	0.06	-24.2477	15.2099	0.73214	0.0:0.1404:0.8596:0.0	.	904	P22413	ENPP1_HUMAN	I	904	ENSP00000354238:R904I	ENSP00000354238:R904I	R	+	2	0	ENPP1	132253277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.141000	0.58038	2.751000	0.94390	0.650000	0.86243	AGA		0.393	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2		
MOXD1	26002	broad.mit.edu	37	6	132649577	132649577	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132649577A>C	ENST00000367963.3	-	5	938	c.820T>G	c.(820-822)Ttt>Gtt	p.F274V	MOXD1_ENST00000336749.3_Missense_Mutation_p.F206V	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	274						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.F274V(1)|p.F206V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GCCCAGGCAAAAATCACAGTT	0.453																																					p.F274V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T820G	6						.						104.0	97.0	99.0					6																	132649577		2203	4300	6503	132691270	SO:0001583	missense	26002	exon5			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.820T>G	6.37:g.132649577A>C	ENSP00000356940:p.Phe274Val		132691270	NM_015529	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796892	0.31777	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.28255	1.62;1.62	4.88	3.67	0.42095	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.061075	0.64402	D	0.000004	T	0.07369	0.0186	L	0.35593	1.075	0.80722	D	1	B;P	0.38827	0.003;0.649	B;B	0.36666	0.02;0.23	T	0.07046	-1.0793	10	0.02654	T	1	-20.1315	10.9628	0.47395	0.9241:0.0:0.0759:0.0	.	274;206	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	V	274;206	ENSP00000356940:F274V;ENSP00000336998:F206V	ENSP00000336998:F206V	F	-	1	0	MOXD1	132691270	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	4.793000	0.62474	0.764000	0.33197	0.528000	0.53228	TTT		0.453	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529	
STX7	8417	broad.mit.edu	37	6	132796786	132796786	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132796786C>A	ENST00000367941.2	-	3	214	c.101G>T	c.(100-102)aGa>aTa	p.R34I	STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Missense_Mutation_p.R34I	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	34					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)	p.R34I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ATTCAGAGTTCTTTGTATTTC	0.279																																					p.R34I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G101T	6						.						64.0	63.0	63.0					6																	132796786		2202	4294	6496	132838479	SO:0001583	missense	8417	exon3			U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.101G>T	6.37:g.132796786C>A	ENSP00000356918:p.Arg34Ile		132838479	NM_003569	E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349733	0.82132	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	T;T;T	0.35789	1.29;1.29;1.29	5.56	5.56	0.83823	t-SNARE (1);Syntaxin, N-terminal (2);	0.042324	0.85682	D	0.000000	T	0.57431	0.2053	M	0.81802	2.56	0.80722	D	1	D	0.58970	0.984	D	0.65684	0.937	T	0.62072	-0.6931	10	0.72032	D	0.01	-10.3746	19.5353	0.95251	0.0:1.0:0.0:0.0	.	34	O15400	STX7_HUMAN	I	34	ENSP00000356918:R34I;ENSP00000412202:R34I;ENSP00000356914:R34I	ENSP00000309600:R34I	R	-	2	0	STX7	132838479	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.363000	0.59473	2.607000	0.88179	0.655000	0.94253	AGA		0.279	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2		
TAAR9	134860	broad.mit.edu	37	6	132859795	132859795	+	RNA	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132859795T>G	ENST00000434551.1	+	0	367					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTTATTTCATTTATGCTGTAT	0.393																																					p.L123V	Colon(10;433 445 15992 45047 47213)											.	.	0			c.T367G	6						.						169.0	160.0	163.0					6																	132859795		2035	4194	6229	132901488			134860	exon1			AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859795T>G			132901488	NM_175057		Missense_Mutation	SNP	ENST00000434551.1	37																																																																																					0.393	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057	
TAAR6	319100	broad.mit.edu	37	6	132892144	132892144	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132892144G>A	ENST00000275198.1	+	1	684	c.684G>A	c.(682-684)gcG>gcA	p.A228A		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	228			A -> V (in dbSNP:rs17061409). {ECO:0000269|PubMed:15329799}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.A228A(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GACGACAGGCGAAAAAGATAG	0.403																																					p.A228A												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G684A	6						.						59.0	60.0	59.0					6																	132892144		2203	4300	6503	132933837	SO:0001819	synonymous_variant	319100	exon1			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.684G>A	6.37:g.132892144G>A			132933837	NM_175067	Q5VUQ4	Silent	SNP	ENST00000275198.1	37	CCDS5155.1																																																																																				0.403	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067	
TAAR5	9038	broad.mit.edu	37	6	132910233	132910233	+	Missense_Mutation	SNP	T	T	G	rs371543236		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132910233T>G	ENST00000258034.2	-	1	644	c.593A>C	c.(592-594)aAa>aCa	p.K198T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	198					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.K198T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCCCCAAAATTTATTGAGCAG	0.478																																					p.K198T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A593C	6						.	T	THR/LYS	1,4403	2.1+/-5.4	0,1,2201	45.0	46.0	46.0		593	5.6	1.0	6		46	0,8598		0,0,4299	no	missense	TAAR5	NM_003967.2	78	0,1,6500	GG,GT,TT		0.0,0.0227,0.0077	probably-damaging	198/338	132910233	1,13001	2202	4299	6501	132951926	SO:0001583	missense	9038	exon1			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.593A>C	6.37:g.132910233T>G	ENSP00000258034:p.Lys198Thr		132951926	NM_003967	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.304806	0.60305	2.27E-4	0.0	ENSG00000135569	ENST00000258034	T	0.71579	-0.58	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.70422	0.3222	L	0.58810	1.83	0.20926	N	0.999827	P	0.51240	0.943	P	0.54706	0.759	T	0.68179	-0.5477	10	0.87932	D	0	-13.0739	15.9198	0.79552	0.0:0.0:0.0:1.0	.	198	O14804	TAAR5_HUMAN	T	198	ENSP00000258034:K198T	ENSP00000258034:K198T	K	-	2	0	TAAR5	132951926	0.000000	0.05858	1.000000	0.80357	0.988000	0.76386	0.327000	0.19663	2.343000	0.79666	0.533000	0.62120	AAA		0.478	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
TAAR5	9038	broad.mit.edu	37	6	132910819	132910819	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:132910819C>T	ENST00000258034.2	-	1	58	c.7G>A	c.(7-9)Gct>Act	p.A3T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	3					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.A3T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATGAAGACAGCTCTCATTTAT	0.433																																					p.A3T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7A	6						.						57.0	57.0	57.0					6																	132910819		2203	4300	6503	132952512	SO:0001583	missense	9038	exon1			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.7G>A	6.37:g.132910819C>T	ENSP00000258034:p.Ala3Thr		132952512	NM_003967	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460739	0.43736	.	.	ENSG00000135569	ENST00000258034	T	0.70282	-0.47	5.01	-0.945	0.10388	.	0.547006	0.16437	N	0.214461	T	0.26702	0.0653	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36114	-0.9761	10	0.10902	T	0.67	4.1263	10.3145	0.43729	0.0:0.6158:0.0:0.3842	.	3	O14804	TAAR5_HUMAN	T	3	ENSP00000258034:A3T	ENSP00000258034:A3T	A	-	1	0	TAAR5	132952512	0.000000	0.05858	0.104000	0.21259	0.399000	0.30720	-0.872000	0.04219	-0.315000	0.08703	0.563000	0.77884	GCT		0.433	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
VNN2	8875	broad.mit.edu	37	6	133072551	133072551	+	Silent	SNP	C	C	T	rs146263625		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:133072551C>T	ENST00000326499.6	-	5	1057	c.933G>A	c.(931-933)tcG>tcA	p.S311S	VNN2_ENST00000525270.1_Silent_p.S258S|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	311	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.S311S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GGTAGGCAAGCGAGGATAGGG	0.438																																					p.S311S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G933A	6						.	C	,,	1,4405	2.1+/-5.4	0,1,2202	85.0	83.0	84.0		,933,774	-7.7	0.0	6	dbSNP_134	84	1,8593	1.2+/-3.3	0,1,4296	no	intron,coding-synonymous,coding-synonymous	VNN2	NM_001242350.1,NM_004665.2,NM_078488.1	,,	0,2,6498	TT,TC,CC		0.0116,0.0227,0.0154	,,	,311/521,258/468	133072551	2,12998	2203	4297	6500	133114244	SO:0001819	synonymous_variant	8875	exon5			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.933G>A	6.37:g.133072551C>T			133114244	NM_004665	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	CCDS5161.1																																																																																				0.438	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2		
VNN2	8875	broad.mit.edu	37	6	133078825	133078825	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:133078825C>T	ENST00000326499.6	-	1	322	c.198G>A	c.(196-198)aaG>aaA	p.K66K	VNN2_ENST00000525270.1_Silent_p.K13K|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Silent_p.K66K	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	66	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.K66K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CAGCTGCCTGCTTGATCGCTG	0.438																																					p.K66K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G198A	6						.						122.0	117.0	119.0					6																	133078825		2203	4300	6503	133120518	SO:0001819	synonymous_variant	8875	exon1			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.198G>A	6.37:g.133078825C>T			133120518	NM_004665	A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Silent	SNP	ENST00000326499.6	37	CCDS5161.1																																																																																				0.438	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2		
EYA4	2070	broad.mit.edu	37	6	133789786	133789786	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:133789786C>T	ENST00000367895.5	+	11	1351	c.887C>T	c.(886-888)tCg>tTg	p.S296L	EYA4_ENST00000531901.1_Missense_Mutation_p.S296L|EYA4_ENST00000430974.2_Missense_Mutation_p.S242L|EYA4_ENST00000452339.2_Missense_Mutation_p.S242L|EYA4_ENST00000355167.3_Missense_Mutation_p.S296L|EYA4_ENST00000525849.1_Missense_Mutation_p.S273L|EYA4_ENST00000431403.2_Missense_Mutation_p.S296L|EYA4_ENST00000355286.6_Missense_Mutation_p.S273L	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	296					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.S296L(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TATATGACATCGAATAACACA	0.438																																					p.S273L	Melanoma(57;398 1237 3528 4702 7415)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C818T	6						.						150.0	135.0	140.0					6																	133789786		2203	4300	6503	133831479	SO:0001583	missense	2070	exon10			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.887C>T	6.37:g.133789786C>T	ENSP00000356870:p.Ser296Leu		133831479	NM_172103	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622539	0.66787	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.73	4.86	0.63082	.	0.114328	0.64402	D	0.000007	D	0.82379	0.5024	L	0.55743	1.74	0.53688	D	0.999977	D;D;P;P;P;P	0.54964	0.969;0.967;0.948;0.907;0.487;0.622	P;P;P;B;B;B	0.53450	0.559;0.726;0.482;0.308;0.249;0.357	T	0.82762	-0.0297	10	0.41790	T	0.15	-15.9453	12.0652	0.53583	0.1361:0.7331:0.1308:0.0	.	296;242;242;273;296;296	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	L	242;242;296;296;273;296;273;296	ENSP00000395916:S242L;ENSP00000388670:S242L;ENSP00000356870:S296L;ENSP00000347294:S296L;ENSP00000347434:S273L;ENSP00000432770:S296L;ENSP00000433219:S273L;ENSP00000404558:S296L	ENSP00000347294:S296L	S	+	2	0	EYA4	133831479	1.000000	0.71417	0.045000	0.18777	0.319000	0.28217	5.581000	0.67471	1.541000	0.49316	0.655000	0.94253	TCG		0.438	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	
TBPL1	9519	broad.mit.edu	37	6	134303767	134303767	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:134303767T>G	ENST00000237264.4	+	3	472	c.197T>G	c.(196-198)aTt>aGt	p.I66S	TBPL1_ENST00000367871.1_Missense_Mutation_p.I66S	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	66					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.I66S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		TCAGGAAAAATTATTTGCACT	0.333																																					p.I66S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T197G	6						.						65.0	66.0	66.0					6																	134303767		2203	4298	6501	134345460	SO:0001583	missense	9519	exon3			AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.197T>G	6.37:g.134303767T>G	ENSP00000237264:p.Ile66Ser		134345460	NM_004865	A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Missense_Mutation	SNP	ENST00000237264.4	37	CCDS5168.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371370	0.82573	.	.	ENSG00000028839	ENST00000416965;ENST00000367871;ENST00000237264;ENST00000367869	.	.	.	5.44	5.44	0.79542	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.100927	0.64402	D	0.000002	T	0.81992	0.4940	M	0.89904	3.07	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.86241	0.1643	9	0.87932	D	0	-18.7784	14.9766	0.71277	0.0:0.0:0.0:1.0	.	66	P62380	TBPL1_HUMAN	S	66	.	ENSP00000237264:I66S	I	+	2	0	TBPL1	134345460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.559000	0.82265	2.195000	0.70347	0.528000	0.53228	ATT		0.333	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042294.2		
SGK1	6446	broad.mit.edu	37	6	134638563	134638563	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:134638563C>A	ENST00000367858.5	-	1	633	c.36G>T	c.(34-36)aaG>aaT	p.K12N	SGK1_ENST00000524929.1_Missense_Mutation_p.K12N	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.K12N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTGAGCATTTCTTGACTGGGA	0.413																																					p.K12N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G36T	6						.						184.0	168.0	173.0					6																	134638563		1568	3582	5150	134680256	SO:0001583	missense	6446	exon1			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000367858.5:c.36G>T	6.37:g.134638563C>A	ENSP00000356832:p.Lys12Asn		134680256	NM_001143676	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000367858.5	37	CCDS47476.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826281	0.71143	.	.	ENSG00000118515	ENST00000367858;ENST00000524929;ENST00000533224	T	0.75821	-0.97	5.38	4.49	0.54785	.	0.171642	0.27971	N	0.017101	T	0.57140	0.2033	.	.	.	0.34728	D	0.729427	P;B	0.40211	0.707;0.0	B;B	0.36244	0.22;0.001	T	0.65627	-0.6122	9	0.72032	D	0.01	.	15.264	0.73646	0.1414:0.8586:0.0:0.0	.	12;12	Q7Z3I4;O00141-2	.;.	N	12	ENSP00000356832:K12N	ENSP00000356832:K12N	K	-	3	2	SGK1	134680256	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.359000	0.66074	1.229000	0.43630	0.591000	0.81541	AAG		0.413	SGK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042304.2		
HBS1L	10767	broad.mit.edu	37	6	135308864	135308864	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:135308864T>C	ENST00000367837.5	-	9	1355	c.1149A>G	c.(1147-1149)ggA>ggG	p.G383G	HBS1L_ENST00000367824.4_Silent_p.G219G|HBS1L_ENST00000527578.1_Silent_p.G219G|HBS1L_ENST00000415177.2_Silent_p.G318G|HBS1L_ENST00000445176.2_Silent_p.G107G|HBS1L_ENST00000367826.2_Silent_p.G341G	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	383	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.G383G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GTGTTTGTCCTCCAGTCTCAA	0.448																																					p.G341G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1023G	6						.						113.0	108.0	110.0					6																	135308864		2203	4300	6503	135350557	SO:0001819	synonymous_variant	10767	exon8			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1149A>G	6.37:g.135308864T>C			135350557	NM_001145158	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	ENST00000367837.5	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.555683	0.27739	.	.	ENSG00000112339	ENST00000529169	.	.	.	5.56	-6.7	0.01766	.	.	.	.	.	T	0.16642	0.0400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41161	-0.9524	4	.	.	.	-15.8549	0.123	0.00066	0.3016:0.213:0.1648:0.3206	.	.	.	.	G	7	.	.	E	-	2	0	HBS1L	135350557	0.164000	0.22935	0.771000	0.31576	0.993000	0.82548	-0.603000	0.05674	-1.591000	0.01621	0.455000	0.32223	GAG		0.448	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2		
GFOD1	54438	broad.mit.edu	37	6	13470326	13470326	+	Intron	SNP	C	C	T	rs141108415		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:13470326C>T	ENST00000379287.3	-	1	918				GFOD1_ENST00000603223.1_3'UTR|AL583828.1_ENST00000558378.1_Missense_Mutation_p.E63K|GFOD1_ENST00000379278.3_5'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.E63K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATGTTGAATTCGTTTGAAAAA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		23600	0.001		0.0	False		,,,				2504	0.0				p.E63K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G187A	6						.						66.0	61.0	63.0					6																	13470326		2203	4300	6503	13578305	SO:0001627	intron_variant	85411	exon2			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.253+16543G>A	6.37:g.13470326C>T			13578305	NM_033069	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	ENST00000379287.3	37	CCDS4524.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.12	1.545588	0.27652	.	.	ENSG00000187461	ENST00000379278	.	.	.	4.03	-3.34	0.04943	.	.	.	.	.	T	0.09512	0.0234	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32025	-0.9922	7	0.87932	D	0	.	0.7379	0.00968	0.3315:0.3099:0.1937:0.1649	.	63	Q9NXC2-3	.	K	63	.	ENSP00000368580:E63K	E	-	1	0	AL583828.1	13578305	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.086000	0.11233	-0.738000	0.04817	-1.838000	0.00587	GAA		0.443	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039902.1	NM_018988	
HBS1L	10767	broad.mit.edu	37	6	135323953	135323953	+	Missense_Mutation	SNP	C	C	T	rs139749814		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:135323953C>T	ENST00000367837.5	-	5	664	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	HBS1L_ENST00000367824.4_5'UTR|HBS1L_ENST00000527578.1_5'UTR|HBS1L_ENST00000415177.2_Missense_Mutation_p.R88Q|HBS1L_ENST00000314674.3_3'UTR|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367826.2_Missense_Mutation_p.R111Q	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	153					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)	p.R153Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AGATTCACTTCGCGATGTCTG	0.338																																					p.R111Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G332A	6						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	112.0	103.0	106.0		332,458	1.4	1.0	6	dbSNP_134	106	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	HBS1L	NM_001145158.1,NM_006620.3	43,43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign	111/643,153/685	135323953	3,13003	2203	4300	6503	135365646	SO:0001583	missense	10767	exon4			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.458G>A	6.37:g.135323953C>T	ENSP00000356811:p.Arg153Gln		135365646	NM_001145158	B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	ENST00000367837.5	37	CCDS5173.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454210	0.26161	0.0	3.49E-4	ENSG00000112339	ENST00000367837;ENST00000415177;ENST00000367826;ENST00000533274;ENST00000524715	T;T;T;T	0.64991	-0.1;-0.13;-0.08;-0.1	6.13	1.39	0.22231	.	0.666424	0.15863	N	0.240926	T	0.26484	0.0647	L	0.27053	0.805	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.06463	-1.0825	10	0.30854	T	0.27	-2.1204	9.5123	0.39085	0.0:0.6051:0.0:0.3949	.	111;153	Q9Y450-4;Q9Y450	.;HBS1L_HUMAN	Q	153;88;111;23;131	ENSP00000356811:R153Q;ENSP00000389826:R88Q;ENSP00000356800:R111Q;ENSP00000434533:R23Q	ENSP00000356800:R111Q	R	-	2	0	HBS1L	135365646	0.981000	0.34729	0.969000	0.41365	0.815000	0.46073	0.323000	0.19593	-0.022000	0.13986	-0.124000	0.14976	CGA		0.338	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042339.2		
PDE7B	27115	broad.mit.edu	37	6	136268611	136268611	+	Missense_Mutation	SNP	G	G	A	rs574015160		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:136268611G>A	ENST00000308191.6	+	2	334	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	11					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.E11K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GAGGTGTGGCGAAATCTTGTT	0.363													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20808	0.0		0.0	False		,,,				2504	0.0				p.E11K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G31A	6						.						117.0	114.0	115.0					6																	136268611		2203	4300	6503	136310304	SO:0001583	missense	27115	exon2			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.31G>A	6.37:g.136268611G>A	ENSP00000310661:p.Glu11Lys		136310304	NM_018945	Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269221	0.59540	.	.	ENSG00000171408	ENST00000308191	T	0.68181	-0.31	5.07	4.2	0.49525	.	.	.	.	.	T	0.32793	0.0841	N	0.22421	0.69	0.28303	N	0.923021	B	0.34264	0.446	B	0.24541	0.054	T	0.23619	-1.0183	9	0.59425	D	0.04	.	13.6382	0.62235	0.075:0.0:0.925:0.0	.	11	Q9NP56	PDE7B_HUMAN	K	11	ENSP00000310661:E11K	ENSP00000310661:E11K	E	+	1	0	PDE7B	136310304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.200000	0.51051	1.277000	0.44412	0.655000	0.94253	GAA		0.363	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1		
BCLAF1	9774	broad.mit.edu	37	6	136597570	136597570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:136597570C>A	ENST00000531224.1	-	5	1345	c.1093G>T	c.(1093-1095)Gga>Tga	p.G365*	BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.G365*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.G363*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.G363*|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.G363*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	365					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G365*(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTCTGATCCTTTCTCTTTT	0.413																																					p.G365X	Colon(142;1534 1789 5427 7063 28491)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1093T	6						.						168.0	183.0	178.0					6																	136597570		2203	4299	6502	136639263	SO:0001587	stop_gained	9774	exon5			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1093G>T	6.37:g.136597570C>A	ENSP00000435210:p.Gly365*		136639263	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	38	7.000500	0.97994	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.2127	19.8217	0.96599	0.0:1.0:0.0:0.0	.	.	.	.	X	365;363;365;363;363;365	.	ENSP00000229446:G363X	G	-	1	0	BCLAF1	136639263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.573000	0.60893	2.775000	0.95449	0.650000	0.86243	GGA		0.413	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
SIRT5	23408	broad.mit.edu	37	6	13612078	13612078	+	Missense_Mutation	SNP	A	A	C	rs34162626	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:13612078A>C	ENST00000606117.1	+	10	1210	c.914A>C	c.(913-915)gAa>gCa	p.E305A	SIRT5_ENST00000397350.2_Missense_Mutation_p.E197A|SIRT5_ENST00000359782.3_Missense_Mutation_p.E287A|RP1-223E5.4_ENST00000566170.1_RNA	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCCTGTCATGAAAATGAAACT	0.433																																					p.E287A												.	.	0			c.A860C	6						.						256.0	257.0	257.0					6																	13612078		2203	4300	6503	13720057	SO:0001583	missense	23408	exon9			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.914A>C	6.37:g.13612078A>C	ENSP00000476228:p.Glu305Ala		13720057	NM_001193267		Missense_Mutation	SNP	ENST00000606117.1	37	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975424	0.74360	.	.	ENSG00000124523	ENST00000359782;ENST00000397350;ENST00000379250	T;T;T	0.22743	2.46;1.94;2.46	5.5	5.5	0.81552	.	0.141022	0.64402	D	0.000005	T	0.24509	0.0594	L	0.56769	1.78	0.58432	D	0.999999	D;P	0.55385	0.971;0.917	P;P	0.52909	0.713;0.521	T	0.01661	-1.1301	10	0.66056	D	0.02	-25.2735	14.8769	0.70501	1.0:0.0:0.0:0.0	.	287;305	F5H5Z9;Q9NXA8	.;SIRT5_HUMAN	A	287;197;305	ENSP00000352830:E287A;ENSP00000380509:E197A;ENSP00000368552:E305A	ENSP00000352830:E287A	E	+	2	0	SIRT5	13720057	1.000000	0.71417	0.952000	0.39060	0.654000	0.38779	5.632000	0.67819	2.203000	0.70933	0.528000	0.53228	GAA		0.433	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2		
MAP3K5	4217	broad.mit.edu	37	6	136913420	136913420	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:136913420G>T	ENST00000359015.4	-	23	3476	c.3116C>A	c.(3115-3117)tCt>tAt	p.S1039Y	MAP3K5_ENST00000355845.4_Missense_Mutation_p.S286Y	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1039					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAAGAATCCAGAATCTTTTTC	0.423																																					p.S1039Y												.	.	0			c.C3116A	6						.						134.0	134.0	134.0					6																	136913420		2203	4300	6503	136955113	SO:0001583	missense	4217	exon23			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3116C>A	6.37:g.136913420G>T	ENSP00000351908:p.Ser1039Tyr		136955113	NM_005923	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649746	0.87958	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.72505	-0.53;-0.66	5.69	5.69	0.88448	.	0.221141	0.48767	D	0.000179	T	0.78091	0.4229	M	0.74647	2.275	0.80722	D	1	P;D	0.61080	0.823;0.989	P;P	0.55087	0.535;0.768	T	0.79734	-0.1679	10	0.62326	D	0.03	.	19.7972	0.96491	0.0:0.0:1.0:0.0	.	1120;1039	Q59GL6;Q99683	.;M3K5_HUMAN	Y	1039;286;1119	ENSP00000351908:S1039Y;ENSP00000348104:S286Y	ENSP00000348104:S286Y	S	-	2	0	MAP3K5	136955113	1.000000	0.71417	0.818000	0.32626	0.978000	0.69477	9.476000	0.97823	2.682000	0.91365	0.591000	0.81541	TCT		0.423	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1		
IL20RA	53832	broad.mit.edu	37	6	137323122	137323122	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:137323122G>A	ENST00000316649.5	-	7	1470	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	IL20RA_ENST00000367748.1_Missense_Mutation_p.A301V|IL20RA_ENST00000541547.1_Missense_Mutation_p.A363V|RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000468393.1_5'Flank	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	412					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.A412V(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TTCAGGCCCCGCACAAATGTC	0.517																																					p.A412V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1235T	6						.						62.0	55.0	58.0					6																	137323122		2203	4300	6503	137364815	SO:0001583	missense	53832	exon7			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1235C>T	6.37:g.137323122G>A	ENSP00000314976:p.Ala412Val		137364815	NM_014432	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	8.540	0.873131	0.17322	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.59502	0.53;1.96;0.26	5.96	-6.15	0.02105	.	5.070270	0.00166	N	0.000001	T	0.08758	0.0217	N	0.02011	-0.69	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.04013	0.001;0.001	T	0.04840	-1.0923	10	0.25751	T	0.34	0.9627	4.7419	0.13017	0.1682:0.1241:0.5321:0.1756	.	301;412	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	V	412;301;363	ENSP00000314976:A412V;ENSP00000356722:A301V;ENSP00000437843:A363V	ENSP00000314976:A412V	A	-	2	0	IL20RA	137364815	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.034000	0.03567	-0.989000	0.03485	-0.793000	0.03317	GCG		0.517	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432	
REPS1	85021	broad.mit.edu	37	6	139226221	139226221	+	Nonsense_Mutation	SNP	G	G	A	rs553499885		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:139226221G>A	ENST00000450536.2	-	20	2945	c.2371C>T	c.(2371-2373)Cga>Tga	p.R791*	REPS1_ENST00000258062.5_Nonsense_Mutation_p.R790*|REPS1_ENST00000415951.2_Nonsense_Mutation_p.R732*|REPS1_ENST00000409812.2_Nonsense_Mutation_p.R700*|REPS1_ENST00000367663.4_Nonsense_Mutation_p.R764*			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	791	Interaction with RALBP1. {ECO:0000250}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.R738*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GAGAATGGTCGAAGTTGTTCC	0.378																																					p.R790X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2368T	6						.						99.0	89.0	93.0					6																	139226221		2203	4300	6503	139267914	SO:0001587	stop_gained	85021	exon20				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.2371C>T	6.37:g.139226221G>A	ENSP00000392065:p.Arg791*		139267914	NM_031922	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Nonsense_Mutation	SNP	ENST00000450536.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.906832|6.906832	0.97924|0.97924	.|.	.|.	ENSG00000135597|ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668|ENST00000478483	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72558	.|0.3475	.|.	.|.	.|.	0.50467|0.50467	D|D	0.99987|0.99987	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68281	.|-0.5450	.|4	0.02654|.	T|.	1|.	-11.1091|-11.1091	20.5827|20.5827	0.99408|0.99408	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	791;764;749;700;790;732;739|134	.|.	ENSP00000258062:R790X|.	R|S	-|-	1|2	2|0	REPS1|REPS1	139267914|139267914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.700000|3.700000	0.54786|0.54786	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.378	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		
UTRN	7402	broad.mit.edu	37	6	144854329	144854329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:144854329G>T	ENST00000367545.3	+	42	6166	c.6166G>T	c.(6166-6168)Gaa>Taa	p.E2056*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2056					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E2056*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTCTTGAAAGAAAAACTGGC	0.498																																					p.E2056X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G6166T	6						.						85.0	89.0	87.0					6																	144854329		2203	4300	6503	144896022	SO:0001587	stop_gained	7402	exon42			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6166G>T	6.37:g.144854329G>T	ENSP00000356515:p.Glu2056*		144896022	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	47	13.715805	0.99759	.	.	ENSG00000152818	ENST00000367545	.	.	.	5.35	5.35	0.76521	.	0.373056	0.22790	N	0.055602	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.0619	0.93096	0.0:0.0:1.0:0.0	.	.	.	.	X	2056	.	ENSP00000356515:E2056X	E	+	1	0	UTRN	144896022	1.000000	0.71417	0.919000	0.36401	0.896000	0.52359	8.283000	0.89909	2.498000	0.84270	0.467000	0.42956	GAA		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
SHPRH	257218	broad.mit.edu	37	6	146275864	146275864	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:146275864T>G	ENST00000367505.2	-	2	859	c.595A>C	c.(595-597)Aaa>Caa	p.K199Q	SHPRH_ENST00000367503.3_Missense_Mutation_p.K199Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.K199Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.K199Q			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	199					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K199Q(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGATAGAGTTTTATTCTTCTC	0.378																																					p.K199Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A595C	6						.						118.0	115.0	116.0					6																	146275864		1837	4092	5929	146317557	SO:0001583	missense	257218	exon2			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.595A>C	6.37:g.146275864T>G	ENSP00000356475:p.Lys199Gln		146317557	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	9.989	1.230368	0.22542	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.23	2.78	0.32641	.	0.361774	0.26470	N	0.024192	T	0.25717	0.0626	L	0.34521	1.04	0.23969	N	0.996312	B;B;B;B	0.14438	0.006;0.0;0.001;0.01	B;B;B;B	0.12156	0.004;0.003;0.006;0.007	T	0.08229	-1.0732	10	0.24483	T	0.36	-25.585	2.3513	0.04284	0.0:0.2331:0.2961:0.4709	.	88;199;199;88	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	Q	199;199;199;199;88	ENSP00000356475:K199Q;ENSP00000356473:K199Q;ENSP00000412797:K199Q;ENSP00000275233:K199Q	ENSP00000275233:K199Q	K	-	1	0	SHPRH	146317557	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.814000	0.38972	0.976000	0.38417	0.533000	0.62120	AAA		0.378	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
GRM1	2911	broad.mit.edu	37	6	146351334	146351334	+	Silent	SNP	C	C	A	rs148483275		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:146351334C>A	ENST00000282753.1	+	1	916	c.681C>A	c.(679-681)gtC>gtA	p.V227V	GRM1_ENST00000492807.2_Silent_p.V227V|GRM1_ENST00000392299.2_Silent_p.V227V|GRM1_ENST00000355289.4_Silent_p.V227V|GRM1_ENST00000361719.2_Silent_p.V227V|GRM1_ENST00000507907.1_Silent_p.V227V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	227					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.V227V(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGACCTATGTCTCTGCAGTCC	0.448																																					p.V227V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C681A	6						.	C	,	0,4406		0,0,2203	60.0	62.0	61.0		681,681	4.0	1.0	6	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	GRM1	NM_000838.3,NM_001114329.1	,	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	,	227/1195,227/907	146351334	2,13004	2203	4300	6503	146393027	SO:0001819	synonymous_variant	2911	exon2			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.681C>A	6.37:g.146351334C>A			146393027	NM_001114329	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																				0.448	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
SASH1	23328	broad.mit.edu	37	6	148846458	148846458	+	Missense_Mutation	SNP	C	C	T	rs201831125		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:148846458C>T	ENST00000367467.3	+	11	1716	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	AL033378.1_ENST00000411390.2_RNA	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	414					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TTTGACTTGACGAATCGCTCT	0.458																																					p.T414M												.	.	0			c.C1241T	6						.	C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	220.0	202.0	208.0		1241	5.6	1.0	6		208	0,8600		0,0,4300	no	missense	SASH1	NM_015278.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	414/1248	148846458	1,13005	2203	4300	6503	148888151	SO:0001583	missense	23328	exon11			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1241C>T	6.37:g.148846458C>T	ENSP00000356437:p.Thr414Met		148888151	NM_015278	Q5TGN5|Q8TAI0|Q9H7R7	De_novo_Start_OutOfFrame	SNP	ENST00000367467.3	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936989	0.92458	2.27E-4	0.0	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.44881	0.91	5.63	5.63	0.86233	.	0.212933	0.47852	D	0.000211	T	0.57403	0.2051	L	0.57536	1.79	0.49483	D	0.999792	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.56547	-0.7961	10	0.62326	D	0.03	-18.9736	20.0442	0.97604	0.0:1.0:0.0:0.0	.	395;414	Q6P4R9;O94885	.;SASH1_HUMAN	M	414;175	ENSP00000356437:T414M	ENSP00000356437:T414M	T	+	2	0	SASH1	148888151	1.000000	0.71417	0.967000	0.41034	0.884000	0.51177	5.627000	0.67784	2.814000	0.96858	0.655000	0.94253	ACG		0.458	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278	
TAB2	23118	broad.mit.edu	37	6	149730820	149730820	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:149730820C>T	ENST00000367456.1	+	8	2624	c.2047C>T	c.(2047-2049)Cgc>Tgc	p.R683C	TAB2_ENST00000286332.5_Missense_Mutation_p.R683C|TAB2_ENST00000538427.1_Missense_Mutation_p.R683C|TAB2_ENST00000536230.1_Missense_Mutation_p.R651C			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	683	Interaction with polyubiquitin.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.R683C(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AGCCTTAATTCGCTGTGAACA	0.443																																					p.R683C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2047T	6						.						171.0	162.0	165.0					6																	149730820		2203	4300	6503	149772513	SO:0001583	missense	23118	exon9			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.2047C>T	6.37:g.149730820C>T	ENSP00000356426:p.Arg683Cys		149772513	NM_015093	B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056887	0.76074	.	.	ENSG00000055208	ENST00000536230;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.87	5.87	0.94306	Zinc finger, RanBP2-type (4);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.81914	0.873;0.995	T	0.62647	-0.6810	10	0.87932	D	0	-6.7835	20.5827	0.99408	0.0:1.0:0.0:0.0	.	651;683	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	C	651;683;683;683	ENSP00000443206:R651C;ENSP00000445752:R683C;ENSP00000356426:R683C;ENSP00000286332:R683C	ENSP00000286332:R683C	R	+	1	0	TAB2	149772513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.735000	0.74806	2.941000	0.99782	0.655000	0.94253	CGC		0.443	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3		
LATS1	9113	broad.mit.edu	37	6	149983088	149983088	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:149983088A>G	ENST00000543571.1	-	8	3717	c.3170T>C	c.(3169-3171)gTa>gCa	p.V1057A	LATS1_ENST00000253339.5_Missense_Mutation_p.V1057A	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.V1057A(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGTGTCATTTACATTTTCTTC	0.358																																					p.V1057A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3170C	6						.						112.0	105.0	107.0					6																	149983088		2203	4300	6503	150024781	SO:0001583	missense	9113	exon8			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3170T>C	6.37:g.149983088A>G	ENSP00000437550:p.Val1057Ala		150024781	NM_004690		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.716907	0.00706	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.50548	0.74;0.74	5.7	4.53	0.55603	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.660781	0.13115	N	0.412649	T	0.08582	0.0213	N	0.02247	-0.625	0.21841	N	0.999517	B	0.02656	0.0	B	0.09377	0.004	T	0.32903	-0.9889	9	.	.	.	.	12.8801	0.58012	0.7448:0.2552:0.0:0.0	.	1057	O95835	LATS1_HUMAN	A	1057	ENSP00000437550:V1057A;ENSP00000253339:V1057A	.	V	-	2	0	LATS1	150024781	1.000000	0.71417	0.705000	0.30386	0.596000	0.36781	3.006000	0.49529	0.992000	0.38840	-0.338000	0.08134	GTA		0.358	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	
LATS1	9113	broad.mit.edu	37	6	150001373	150001373	+	Missense_Mutation	SNP	C	C	T	rs200119992	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:150001373C>T	ENST00000543571.1	-	5	2778	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R744Q	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R744Q(2)|p.R744L(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GACTTGATTTCGAAGAAGAAC	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		20080	0.002		0.0	False		,,,				2504	0.0				p.R744Q												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G2231A	6						.						116.0	112.0	113.0					6																	150001373		2203	4300	6503	150043066	SO:0001583	missense	9113	exon5			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2231G>A	6.37:g.150001373C>T	ENSP00000437550:p.Arg744Gln		150043066	NM_004690		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	34	5.335617	0.95758	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.64803	-0.12;-0.12	5.49	5.49	0.81192	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000335	T	0.59155	0.2173	N	0.16567	0.415	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.57985	-0.7716	9	.	.	.	.	19.7457	0.96251	0.0:1.0:0.0:0.0	.	744	O95835	LATS1_HUMAN	Q	744	ENSP00000437550:R744Q;ENSP00000253339:R744Q	.	R	-	2	0	LATS1	150043066	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.445000	0.80570	2.725000	0.93324	0.557000	0.71058	CGA		0.383	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	
LATS1	9113	broad.mit.edu	37	6	150004302	150004302	+	Missense_Mutation	SNP	G	G	T	rs35163691		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:150004302G>T	ENST00000543571.1	-	4	2470	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	LATS1_ENST00000392273.3_Missense_Mutation_p.F641L|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.F641L	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.F641F(2)|p.F641L(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GCTCCATAAAGAATTTAAATG	0.338																																					p.F641L												.	.	4	Substitution - Missense(2)|Substitution - coding silent(2)	large_intestine(2)|lung(2)	c.C1923A	6						.						109.0	94.0	99.0					6																	150004302		2203	4300	6503	150045995	SO:0001583	missense	9113	exon4			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1923C>A	6.37:g.150004302G>T	ENSP00000437550:p.Phe641Leu		150045995	NM_004690		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369745	0.61624	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.58940	0.3;0.3;0.3	5.63	3.85	0.44370	.	0.000000	0.64402	D	0.000008	T	0.62720	0.2451	M	0.72894	2.215	0.54753	D	0.999985	D;D;B	0.71674	0.998;0.998;0.402	D;D;B	0.80764	0.952;0.994;0.253	T	0.65001	-0.6274	9	.	.	.	.	9.7294	0.40352	0.2039:0.0:0.7961:0.0	rs35163691	493;641;641	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	L	641	ENSP00000437550:F641L;ENSP00000253339:F641L;ENSP00000444678:F641L	.	F	-	3	2	LATS1	150045995	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.795000	0.47861	0.850000	0.35239	0.655000	0.94253	TTC		0.338	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	
ULBP2	80328	broad.mit.edu	37	6	150267625	150267625	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:150267625G>T	ENST00000367351.3	+	3	540	c.467G>T	c.(466-468)aGa>aTa	p.R156I		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	156	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular space (GO:0005615)	natural killer cell lectin-like receptor binding (GO:0046703)	p.R156I(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TCAGAGAAGAGAATGTGGACA	0.478																																					p.R156I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G467T	6						.						238.0	216.0	224.0					6																	150267625		2203	4300	6503	150309318	SO:0001583	missense	80328	exon3			AF304378	CCDS5222.1	6q25	2008-04-11			ENSG00000131015	ENSG00000131015			14894	protein-coding gene	gene with protein product		605698				11239445	Standard	NM_025217		Approved	RAET1H	uc003qno.3	Q9BZM5	OTTHUMG00000015803	ENST00000367351.3:c.467G>T	6.37:g.150267625G>T	ENSP00000356320:p.Arg156Ile		150309318	NM_025217	Q5VUN4	Missense_Mutation	SNP	ENST00000367351.3	37	CCDS5222.1	.	.	.	.	.	.	.	.	.	.	-	12.39	1.922840	0.33908	.	.	ENSG00000131015	ENST00000367351	T	0.62941	-0.01	2.26	-4.52	0.03472	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.38532	0.1044	L	0.53249	1.67	0.09310	N	1	P;P	0.50272	0.933;0.933	B;P	0.50754	0.382;0.649	T	0.32214	-0.9915	9	0.87932	D	0	.	0.5654	0.00686	0.4136:0.1819:0.2219:0.1827	.	156;156	B4DSS7;Q9BZM5	.;N2DL2_HUMAN	I	156	ENSP00000356320:R156I	ENSP00000356320:R156I	R	+	2	0	ULBP2	150309318	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-1.764000	0.01800	-0.911000	0.03843	0.184000	0.17185	AGA		0.478	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042669.1		
IYD	389434	broad.mit.edu	37	6	150690282	150690282	+	Missense_Mutation	SNP	G	G	A	rs376472194	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:150690282G>A	ENST00000344419.3	+	1	255	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	IYD_ENST00000392255.3_Missense_Mutation_p.E39K|IYD_ENST00000392256.2_Missense_Mutation_p.E39K|IYD_ENST00000500320.3_Missense_Mutation_p.E39K|IYD_ENST00000229447.5_Missense_Mutation_p.E39K|IYD_ENST00000425615.3_5'Flank	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	39					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)	p.E39K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AACCAGGGCCGAAGCTCGCCC	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18979	0.0		0.0	False		,,,				2504	0.0				p.E39K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G115A	6						.	G	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	91.0	98.0	96.0		115,115,115	-0.2	0.0	6		96	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_203395.2,NM_001164695.1,NM_001164694.1	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	39/290,39/248,39/294	150690282	1,13005	2203	4300	6503	150731975	SO:0001583	missense	389434	exon1			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.115G>A	6.37:g.150690282G>A	ENSP00000343763:p.Glu39Lys		150731975	NM_001164695	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	ENST00000344419.3	37	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	G	1.192	-0.634930	0.03584	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320	D;T;D;D;D	0.86297	-2.08;-0.46;-2.06;-2.09;-2.1	4.13	-0.188	0.13264	.	0.602490	0.16787	N	0.199530	T	0.58864	0.2152	L	0.35723	1.085	0.09310	N	1	B;B;B	0.15719	0.014;0.003;0.01	B;B;B	0.06405	0.002;0.002;0.002	T	0.50676	-0.8800	10	0.13853	T	0.58	-24.7969	8.2336	0.31612	0.0904:0.4582:0.4514:0.0	.	39;39;39	C9JFW2;Q6PHW0-3;Q6PHW0	.;.;IYD1_HUMAN	K	39	ENSP00000229447:E39K;ENSP00000343763:E39K;ENSP00000376085:E39K;ENSP00000376084:E39K;ENSP00000441276:E39K	ENSP00000229447:E39K	E	+	1	0	IYD	150731975	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.048000	0.11944	-0.306000	0.08818	-0.217000	0.12591	GAA		0.502	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395	
MTHFD1L	25902	broad.mit.edu	37	6	151265691	151265691	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:151265691G>T	ENST00000367321.3	+	14	1784	c.1510G>T	c.(1510-1512)Gac>Tac	p.D504Y		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	504	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)	p.D504Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGCCGCCATCGACACGAGGAT	0.433																																					p.D504Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1510T	6						.						50.0	47.0	48.0					6																	151265691		2203	4300	6503	151307384	SO:0001583	missense	25902	exon14			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1510G>T	6.37:g.151265691G>T	ENSP00000356290:p.Asp504Tyr		151307384	NM_015440	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344013	0.82022	.	.	ENSG00000120254	ENST00000367321	T	0.35605	1.3	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	H	0.98594	4.275	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.994	D;D;D	0.68353	0.941;0.957;0.919	D	0.84354	0.0534	10	0.87932	D	0	.	19.4315	0.94772	0.0:0.0:1.0:0.0	.	505;259;504	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Y	504	ENSP00000356290:D504Y	ENSP00000356290:D504Y	D	+	1	0	MTHFD1L	151307384	1.000000	0.71417	0.965000	0.40720	0.719000	0.41307	9.749000	0.98871	2.600000	0.87896	0.655000	0.94253	GAC		0.433	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
C6orf211	79624	broad.mit.edu	37	6	151789948	151789948	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:151789948T>A	ENST00000367294.3	+	5	1288	c.1029T>A	c.(1027-1029)tgT>tgA	p.C343*	C6orf211_ENST00000545879.1_Nonsense_Mutation_p.C224*	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	343								p.C343*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATGAGTACTGTGCAATGCCTC	0.408																																					p.C343X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T1029A	6						.						99.0	99.0	99.0					6																	151789948		2203	4300	6503	151831641	SO:0001587	stop_gained	79624	exon5			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.1029T>A	6.37:g.151789948T>A	ENSP00000356263:p.Cys343*		151831641	NM_024573	Q96FC6|Q9UFY5	Nonsense_Mutation	SNP	ENST00000367294.3	37	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	T	37	6.045284	0.97231	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	.	.	.	6.16	1.16	0.20824	.	0.441684	0.30043	N	0.010549	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	6.2627	0.20910	0.0:0.3505:0.1323:0.5172	.	.	.	.	X	343;224	.	ENSP00000356263:C343X	C	+	3	2	C6orf211	151831641	0.073000	0.21202	0.007000	0.13788	0.961000	0.63080	-0.338000	0.07842	-0.017000	0.14103	0.528000	0.53228	TGT		0.408	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573	
CCDC170	80129	broad.mit.edu	37	6	151936798	151936798	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:151936798A>C	ENST00000239374.7	+	10	2030	c.1931A>C	c.(1930-1932)gAa>gCa	p.E644A	CCDC170_ENST00000367290.5_Missense_Mutation_p.E651A|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	644								p.E644A(1)									GAAGAAGCAGAAAAGAGAGAA	0.368																																					p.E644A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1931C	6						.						123.0	121.0	121.0					6																	151936798		1828	4075	5903	151978491	SO:0001583	missense	80129	exon10			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1931A>C	6.37:g.151936798A>C	ENSP00000239374:p.Glu644Ala		151978491	NM_025059	Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	A	6.922	0.539852	0.13250	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08193	3.12;3.12	5.95	2.33	0.28932	.	0.393744	0.28828	N	0.014018	T	0.01765	0.0056	L	0.50919	1.6	0.24844	N	0.992445	B	0.17038	0.02	B	0.15052	0.012	T	0.47071	-0.9145	10	0.19590	T	0.45	-1.1396	1.2427	0.01966	0.3778:0.216:0.083:0.3232	.	644	Q8IYT3	CF097_HUMAN	A	644;651	ENSP00000239374:E644A;ENSP00000356259:E651A	ENSP00000239374:E644A	E	+	2	0	C6orf97	151978491	0.825000	0.29262	1.000000	0.80357	0.997000	0.91878	1.730000	0.38125	0.480000	0.27534	0.533000	0.62120	GAA		0.368	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059	
ESR1	2099	broad.mit.edu	37	6	152265314	152265314	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152265314G>A	ENST00000206249.3	+	4	1129	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	ESR1_ENST00000440973.1_Missense_Mutation_p.R256Q|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.R256Q|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000443427.1_Missense_Mutation_p.R256Q|ESR1_ENST00000427531.2_Missense_Mutation_p.R83Q|ESR1_ENST00000406599.1_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	256	Hinge.|Mediates interaction with DNTTIP2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R256Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TCAGGGATACGAAAAGACCGA	0.418																																					p.R256Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G767A	6						.						56.0	62.0	60.0					6																	152265314		2203	4300	6503	152307007	SO:0001583	missense	2099	exon5			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.767G>A	6.37:g.152265314G>A	ENSP00000206249:p.Arg256Gln		152307007	NM_001122740	Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	ENST00000206249.3	37	CCDS5234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.046199|5.046199	0.93740|0.93740	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000427531|ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000347491;ENST00000431590;ENST00000544394	.|D;D;D;D;T	.|0.95980	.|-3.87;-3.87;-3.87;-3.87;1.15	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98118|0.98118	0.9379|0.9379	M|M	0.89287|0.89287	3.02|3.02	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.999;0.996;0.992	D|D	0.98664|0.98664	1.0685|1.0685	5|10	.|0.87932	.|D	.|0	.|.	19.635|19.635	0.95728|0.95728	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|37;255;256;256	.|E7EVR3;A8KAF4;G4XH65;P03372	.|.;.;.;ESR1_HUMAN	K|Q	161|256;256;37;256;256;81;184;83	.|ENSP00000405330:R256Q;ENSP00000342630:R256Q;ENSP00000387500:R256Q;ENSP00000206249:R256Q;ENSP00000445454:R83Q	.|ENSP00000206249:R256Q	E|R	+|+	1|2	0|0	ESR1|ESR1	152307007|152307007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.346000|8.346000	0.90060|0.90060	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.418	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
SYNE1	23345	broad.mit.edu	37	6	152469351	152469351	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152469351G>A	ENST00000367255.5	-	137	25406	c.24805C>T	c.(24805-24807)Cgg>Tgg	p.R8269W	SYNE1_ENST00000354674.4_Missense_Mutation_p.R424W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8198W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7881W|SYNE1_ENST00000539504.1_Missense_Mutation_p.R424W|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2793W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8198W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8269W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8269					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R8269W(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGTCCTGACCGCTCGCTCCGG	0.632										HNSCC(10;0.0054)																											p.R2793W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8377T	6						.						59.0	59.0	59.0					6																	152469351		2203	4300	6503	152511044	SO:0001583	missense	23345	exon52			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24805C>T	6.37:g.152469351G>A	ENSP00000356224:p.Arg8269Trp		152511044	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333104	0.60853	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.65549	-0.07;4.3;0.97;0.17;-0.16;0.15;0.14;2.03;1.24;4.22	5.26	1.99	0.26369	.	0.123056	0.33834	N	0.004501	T	0.75221	0.3820	M	0.88640	2.97	0.52501	D	0.999955	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.983;0.987;0.994;0.987;0.989	T	0.80236	-0.1466	10	0.52906	T	0.07	.	14.3475	0.66678	0.0:0.0:0.4347:0.5653	.	8269;8269;8198;8198;471	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	W	8269;424;915;8198;8269;8198;7881;2793;431;426;1191;424	ENSP00000356224:R8269W;ENSP00000441052:R424W;ENSP00000356226:R915W;ENSP00000396024:R8198W;ENSP00000265368:R8269W;ENSP00000390975:R8198W;ENSP00000341887:R7881W;ENSP00000349276:R2793W;ENSP00000356220:R1191W;ENSP00000346701:R424W	ENSP00000265368:R8269W	R	-	1	2	SYNE1	152511044	1.000000	0.71417	0.949000	0.38748	0.524000	0.34500	1.163000	0.31798	0.542000	0.28846	0.563000	0.77884	CGG		0.632	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152501303	152501303	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152501303G>T	ENST00000367255.5	-	129	24029	c.23428C>A	c.(23428-23430)Ctc>Atc	p.L7810I	SYNE1_ENST00000423061.1_Missense_Mutation_p.L7739I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7422I|SYNE1_ENST00000347037.5_5'Flank|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2334I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7739I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7810I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7810					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L7810I(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCAATGAGAATGTCTCCA	0.383										HNSCC(10;0.0054)																											p.L2334I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C7000A	6						.						199.0	187.0	191.0					6																	152501303		2203	4300	6503	152542996	SO:0001583	missense	23345	exon44			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23428C>A	6.37:g.152501303G>T	ENSP00000356224:p.Leu7810Ile		152542996	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625191	0.28889	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.21	4.33	0.51752	.	0.239066	0.29752	N	0.011299	T	0.09512	0.0234	N	0.08118	0	0.25770	N	0.984846	P;P;P;P;B	0.40000	0.698;0.698;0.649;0.698;0.13	B;B;B;B;B	0.36766	0.232;0.232;0.149;0.232;0.098	T	0.04268	-1.0964	10	0.27785	T	0.31	.	6.2607	0.20899	0.0732:0.1308:0.661:0.135	.	7810;7810;7739;7739;12	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	I	7810;456;7739;7810;7739;7422;2334;732	ENSP00000356224:L7810I;ENSP00000356226:L456I;ENSP00000396024:L7739I;ENSP00000265368:L7810I;ENSP00000390975:L7739I;ENSP00000341887:L7422I;ENSP00000349276:L2334I;ENSP00000356220:L732I	ENSP00000265368:L7810I	L	-	1	0	SYNE1	152542996	1.000000	0.71417	0.967000	0.41034	0.638000	0.38207	4.880000	0.63107	1.170000	0.42753	0.655000	0.94253	CTC		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152631870	152631870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152631870G>A	ENST00000367255.5	-	88	17450	c.16849C>T	c.(16849-16851)Cga>Tga	p.R5617*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R5546*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R5229*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.R141*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R5546*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R5617*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5617					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R5617*(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCATCTGTCGCAACTCCTCA	0.388										HNSCC(10;0.0054)																											p.R141X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C421T	6						.						99.0	88.0	91.0					6																	152631870		2203	4300	6503	152673563	SO:0001587	stop_gained	23345	exon3			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16849C>T	6.37:g.152631870G>A	ENSP00000356224:p.Arg5617*		152673563	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	39	7.448843	0.98292	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.99	4.18	0.49190	.	0.659026	0.14023	N	0.346679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4134	0.74945	0.0:0.0:0.7297:0.2702	.	.	.	.	X	5617;5546;5617;5546;5229;141	.	ENSP00000265368:R5617X	R	-	1	2	SYNE1	152673563	1.000000	0.71417	0.087000	0.20705	0.831000	0.47069	3.669000	0.54561	0.813000	0.34350	-0.274000	0.10170	CGA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152631996	152631996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152631996C>A	ENST00000367255.5	-	88	17324	c.16723G>T	c.(16723-16725)Gaa>Taa	p.E5575*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E5504*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E5187*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E99*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E5504*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E5575*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5575					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E5575*(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTTGGATTCTTCTAGCAGG	0.408										HNSCC(10;0.0054)																											p.E99X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G295T	6						.						85.0	74.0	77.0					6																	152631996		2203	4300	6503	152673689	SO:0001587	stop_gained	23345	exon3			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16723G>T	6.37:g.152631996C>A	ENSP00000356224:p.Glu5575*		152673689	NM_015293	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	37	6.244578	0.97408	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2683	0.98464	0.0:1.0:0.0:0.0	.	.	.	.	X	5575;5504;5575;5504;5187;99	.	ENSP00000265368:E5575X	E	-	1	0	SYNE1	152673689	1.000000	0.71417	1.000000	0.80357	0.133000	0.20885	7.594000	0.82698	2.800000	0.96347	0.591000	0.81541	GAA		0.408	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152651912	152651912	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152651912G>A	ENST00000367255.5	-	78	14509	c.13908C>T	c.(13906-13908)gtC>gtT	p.V4636V	SYNE1_ENST00000423061.1_Silent_p.V4565V|SYNE1_ENST00000341594.5_Silent_p.V4383V|SYNE1_ENST00000448038.1_Silent_p.V4565V|SYNE1_ENST00000265368.4_Silent_p.V4636V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4636					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V4636V(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGAATGATCGACTTCATTCA	0.383										HNSCC(10;0.0054)																											p.V4565V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C13695T	6						.						144.0	140.0	141.0					6																	152651912		2203	4300	6503	152693605	SO:0001819	synonymous_variant	23345	exon77			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13908C>T	6.37:g.152651912G>A			152693605	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152652874	152652874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152652874C>A	ENST00000367255.5	-	78	13547	c.12946G>T	c.(12946-12948)Gaa>Taa	p.E4316*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E4245*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E4181*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E4245*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E4316*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4316					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E4316*(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCGTCTGTTCTTTGACTAAC	0.388										HNSCC(10;0.0054)																											p.E4245X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G12733T	6						.						129.0	121.0	124.0					6																	152652874		2203	4300	6503	152694567	SO:0001587	stop_gained	23345	exon77			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12946G>T	6.37:g.152652874C>A	ENSP00000356224:p.Glu4316*		152694567	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	57	27.313393	0.99971	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	.	.	.	X	4316;4245;4316;4245;4181	.	ENSP00000265368:E4316X	E	-	1	0	SYNE1	152694567	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	7.794000	0.85869	2.840000	0.97914	0.655000	0.94253	GAA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152668310	152668310	+	Missense_Mutation	SNP	C	C	T	rs148782440		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152668310C>T	ENST00000367255.5	-	73	12563	c.11962G>A	c.(11962-11964)Gat>Aat	p.D3988N	SYNE1_ENST00000423061.1_Missense_Mutation_p.D3917N|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3917N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3988N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3988					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.D3988N(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCAAAGTATCACCTTTCATT	0.423										HNSCC(10;0.0054)																											p.D3917N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G11749A	6						.	C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	157.0	137.0	144.0		11749,11962	5.0	0.6	6	dbSNP_134	144	0,8600		0,0,4300	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	23,23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	3917/8750,3988/8798	152668310	1,13005	2203	4300	6503	152710003	SO:0001583	missense	23345	exon72			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11962G>A	6.37:g.152668310C>T	ENSP00000356224:p.Asp3988Asn		152710003	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749717	0.49257	2.27E-4	0.0	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.35048	1.34;1.33;1.34;1.33	5.91	5.03	0.67393	.	0.091732	0.46758	N	0.000268	T	0.20088	0.0483	M	0.64997	1.995	0.80722	D	1	B;B;B;B	0.13594	0.008;0.008;0.008;0.0	B;B;B;B	0.16289	0.015;0.015;0.015;0.0	T	0.10291	-1.0636	10	0.15952	T	0.53	.	15.3673	0.74531	0.0:0.9328:0.0:0.0672	.	3988;3988;3988;3917	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	3988;3917;3988;3917	ENSP00000356224:D3988N;ENSP00000396024:D3917N;ENSP00000265368:D3988N;ENSP00000390975:D3917N	ENSP00000265368:D3988N	D	-	1	0	SYNE1	152710003	1.000000	0.71417	0.600000	0.28864	0.814000	0.46013	5.706000	0.68362	1.475000	0.48197	0.655000	0.94253	GAT		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152706918	152706918	+	Missense_Mutation	SNP	G	G	A	rs368832347		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152706918G>A	ENST00000367255.5	-	55	9144	c.8543C>T	c.(8542-8544)gCg>gTg	p.A2848V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A2855V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2887V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2855V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2848V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2848					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.A2848V(4)|p.A2855V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCGTGGACCGCATCTAAATA	0.403										HNSCC(10;0.0054)																											p.A2855V												.	.	5	Substitution - Missense(5)	kidney(3)|large_intestine(2)	c.C8564T	6						.						182.0	170.0	174.0					6																	152706918		2203	4300	6503	152748611	SO:0001583	missense	23345	exon55			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8543C>T	6.37:g.152706918G>A	ENSP00000356224:p.Ala2848Val		152748611	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851002	0.51270	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.58797	0.4;0.41;0.31;0.41;0.53	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000008	T	0.68357	0.2992	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.69479	0.945;0.922;0.922;0.964	T	0.62534	-0.6834	10	0.23891	T	0.37	.	19.4115	0.94675	0.0:0.0:1.0:0.0	.	2831;2848;2848;2855	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	2848;2855;2848;2855;2887	ENSP00000356224:A2848V;ENSP00000396024:A2855V;ENSP00000265368:A2848V;ENSP00000390975:A2855V;ENSP00000341887:A2887V	ENSP00000265368:A2848V	A	-	2	0	SYNE1	152748611	1.000000	0.71417	0.937000	0.37676	0.048000	0.14542	9.444000	0.97578	2.599000	0.87857	0.591000	0.81541	GCG		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152730342	152730342	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152730342T>G	ENST00000367255.5	-	44	7002	c.6401A>C	c.(6400-6402)aAa>aCa	p.K2134T	SYNE1_ENST00000423061.1_Missense_Mutation_p.K2141T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K2171T|RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000448038.1_Missense_Mutation_p.K2141T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K2134T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2134					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.K2134T(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTAATTCATTTTGTTCTTGGC	0.313										HNSCC(10;0.0054)																											p.K2141T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A6422C	6						.						120.0	116.0	117.0					6																	152730342		2203	4299	6502	152772035	SO:0001583	missense	23345	exon44			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6401A>C	6.37:g.152730342T>G	ENSP00000356224:p.Lys2134Thr		152772035	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	11.85	1.762913	0.31228	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.57	4.38	0.52667	.	0.297961	0.28566	N	0.014891	T	0.10423	0.0255	N	0.08118	0	0.80722	D	1	B;B;B;B	0.24368	0.023;0.102;0.102;0.082	B;B;B;B	0.26969	0.01;0.029;0.029;0.075	T	0.06826	-1.0805	10	0.62326	D	0.03	.	12.6453	0.56731	0.0:0.0:0.1382:0.8618	.	2117;2134;2134;2141	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	2134;2141;2134;2141;2171	ENSP00000356224:K2134T;ENSP00000396024:K2141T;ENSP00000265368:K2134T;ENSP00000390975:K2141T;ENSP00000341887:K2171T	ENSP00000265368:K2134T	K	-	2	0	SYNE1	152772035	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.124000	0.64709	0.908000	0.36671	0.533000	0.62120	AAA		0.313	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152740842	152740842	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152740842C>G	ENST00000367255.5	-	40	5884	c.5283G>C	c.(5281-5283)caG>caC	p.Q1761H	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1768H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1798H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1768H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1761H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1761					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q1761H(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAACCACAGACTGAAGAAAAT	0.343										HNSCC(10;0.0054)																											p.Q1768H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5304C	6						.						68.0	69.0	69.0					6																	152740842		2203	4300	6503	152782535	SO:0001583	missense	23345	exon40			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5283G>C	6.37:g.152740842C>G	ENSP00000356224:p.Gln1761His		152782535	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	7.155	0.584492	0.13749	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.21	5.21	4.34	0.51931	.	0.000000	0.64402	D	0.000020	T	0.17195	0.0413	M	0.64997	1.995	0.80722	D	1	B;B;B;B	0.22851	0.076;0.007;0.007;0.005	B;B;B;B	0.16722	0.016;0.006;0.006;0.004	T	0.09684	-1.0663	10	0.48119	T	0.1	.	5.6073	0.17387	0.1413:0.6385:0.0:0.2202	.	1744;1761;1761;1768	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	1761;1768;1761;1768;1798	ENSP00000356224:Q1761H;ENSP00000396024:Q1768H;ENSP00000265368:Q1761H;ENSP00000390975:Q1768H;ENSP00000341887:Q1798H	ENSP00000265368:Q1761H	Q	-	3	2	SYNE1	152782535	0.991000	0.36638	1.000000	0.80357	0.672000	0.39443	0.144000	0.16135	1.329000	0.45376	0.650000	0.86243	CAG		0.343	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152768624	152768624	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152768624G>A	ENST00000367255.5	-	29	4239	c.3638C>T	c.(3637-3639)tCt>tTt	p.S1213F	SYNE1_ENST00000413186.2_Missense_Mutation_p.S1213F|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1213F|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1203F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1220F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1279F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1220F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1213F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1213					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S1213F(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCCTTGAAAGAGCTGGATAA	0.458										HNSCC(10;0.0054)																											p.S1220F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3659T	6						.						69.0	68.0	68.0					6																	152768624		2203	4300	6503	152810317	SO:0001583	missense	23345	exon29			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3638C>T	6.37:g.152768624G>A	ENSP00000356224:p.Ser1213Phe		152810317	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593081	0.66219	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.9	2.73	0.32206	.	0.430060	0.21027	N	0.081403	T	0.23611	0.0571	L	0.44542	1.39	0.80722	D	1	P;P;P;D;P;P	0.53885	0.731;0.77;0.852;0.963;0.77;0.852	B;B;P;P;B;P	0.49953	0.342;0.328;0.528;0.627;0.328;0.528	T	0.02736	-1.1117	10	0.56958	D	0.05	.	8.8639	0.35274	0.0:0.1245:0.6598:0.2157	.	1196;1213;1203;1213;1213;1220	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	F	1213;1220;1213;1220;1279;1213;1203;1213	ENSP00000356224:S1213F;ENSP00000396024:S1220F;ENSP00000265368:S1213F;ENSP00000390975:S1220F;ENSP00000341887:S1279F;ENSP00000356222:S1213F;ENSP00000356217:S1203F;ENSP00000414510:S1213F	ENSP00000265368:S1213F	S	-	2	0	SYNE1	152810317	1.000000	0.71417	0.488000	0.27440	0.820000	0.46376	2.686000	0.46968	0.800000	0.34041	0.650000	0.86243	TCT		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152772233	152772233	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152772233C>A	ENST00000367255.5	-	26	3736	c.3135G>T	c.(3133-3135)gaG>gaT	p.E1045D	SYNE1_ENST00000413186.2_Missense_Mutation_p.E1045D|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1045D|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1035D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1052D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1111D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1052D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1045D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1045					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E1045D(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAGCTTGGTCTCTCGATCCA	0.458										HNSCC(10;0.0054)																											p.E1052D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3156T	6						.						222.0	196.0	205.0					6																	152772233		2203	4300	6503	152813926	SO:0001583	missense	23345	exon26			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3135G>T	6.37:g.152772233C>A	ENSP00000356224:p.Glu1045Asp		152813926	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041655	0.55003	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.93076	-0.48;-0.46;-0.57;-0.46;-0.38;-3.06;-3.13;-3.16	5.84	4.07	0.47477	.	0.196086	0.35739	N	0.003008	D	0.84669	0.5523	L	0.41492	1.28	0.80722	D	1	B;B;B;B;B;B	0.18461	0.001;0.0;0.007;0.013;0.0;0.028	B;B;B;B;B;B	0.21546	0.004;0.001;0.035;0.021;0.001;0.023	T	0.80571	-0.1323	10	0.41790	T	0.15	.	13.1355	0.59407	0.0:0.8697:0.0:0.1303	.	1028;1045;1035;1045;1045;1052	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	D	1045;1052;1045;1052;1111;1045;1035;1045	ENSP00000356224:E1045D;ENSP00000396024:E1052D;ENSP00000265368:E1045D;ENSP00000390975:E1052D;ENSP00000341887:E1111D;ENSP00000356222:E1045D;ENSP00000356217:E1035D;ENSP00000414510:E1045D	ENSP00000265368:E1045D	E	-	3	2	SYNE1	152813926	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.818000	0.48041	0.938000	0.37419	0.650000	0.86243	GAG		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SYNE1	23345	broad.mit.edu	37	6	152780005	152780005	+	Missense_Mutation	SNP	C	C	T	rs139324183		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:152780005C>T	ENST00000367255.5	-	22	3056	c.2455G>A	c.(2455-2457)Gaa>Aaa	p.E819K	SYNE1_ENST00000413186.2_Missense_Mutation_p.E819K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E819K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E809K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E826K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E826K|SYNE1_ENST00000495090.2_Missense_Mutation_p.E386K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E826K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E819K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	819					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E819K(4)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTCTAATTCCTCCAACGGA	0.383										HNSCC(10;0.0054)																											p.E826K												.	.	4	Substitution - Missense(4)	large_intestine(2)|skin(2)	c.G2476A	6						.						94.0	89.0	91.0					6																	152780005		2203	4300	6503	152821698	SO:0001583	missense	23345	exon22			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2455G>A	6.37:g.152780005C>T	ENSP00000356224:p.Glu819Lys		152821698	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	32	5.118176	0.94385	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.51817	1.22;1.22;1.22;1.22;0.69;1.22;1.22;1.22;1.22	5.72	4.85	0.62838	.	0.207196	0.33438	N	0.004905	T	0.43964	0.1271	L	0.61218	1.895	0.80722	D	1	P;P;P;D;P;P;D	0.52996	0.748;0.927;0.853;0.957;0.941;0.927;0.957	B;P;P;P;P;P;P	0.55999	0.338;0.619;0.628;0.789;0.623;0.619;0.789	T	0.44528	-0.9322	10	0.11485	T	0.65	.	14.9674	0.71204	0.0:0.9313:0.0:0.0687	.	802;819;386;809;819;819;826	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	K	819;826;819;826;826;819;809;819;386	ENSP00000356224:E819K;ENSP00000396024:E826K;ENSP00000265368:E819K;ENSP00000390975:E826K;ENSP00000341887:E826K;ENSP00000356222:E819K;ENSP00000356217:E809K;ENSP00000414510:E819K;ENSP00000438508:E386K	ENSP00000265368:E819K	E	-	1	0	SYNE1	152821698	1.000000	0.71417	0.868000	0.34077	0.975000	0.68041	6.614000	0.74197	1.542000	0.49330	0.650000	0.86243	GAA		0.383	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
SCAF8	22828	broad.mit.edu	37	6	155116242	155116242	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:155116242C>T	ENST00000367178.3	+	6	1151	c.575C>T	c.(574-576)gCt>gTt	p.A192V	SCAF8_ENST00000367186.4_Missense_Mutation_p.A258V|SCAF8_ENST00000417268.1_Missense_Mutation_p.A192V	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	192					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.A192V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GCGGCTGTAGCTCAGATCTTG	0.413																																					p.A192V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C575T	6						.						97.0	88.0	91.0					6																	155116242		2203	4300	6503	155157934	SO:0001583	missense	22828	exon6			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.575C>T	6.37:g.155116242C>T	ENSP00000356146:p.Ala192Val		155157934	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604239	0.87157	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.66280	-0.1;-0.1;-0.2	4.98	4.98	0.66077	.	0.000000	0.85682	U	0.000000	T	0.74207	0.3686	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.993;0.999	D;D;D;D	0.80764	0.994;0.994;0.978;0.991	T	0.76906	-0.2786	10	0.66056	D	0.02	.	18.6071	0.91271	0.0:1.0:0.0:0.0	.	237;258;270;192	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	V	192;192;258	ENSP00000356146:A192V;ENSP00000413098:A192V;ENSP00000356154:A258V	ENSP00000356146:A192V	A	+	2	0	SCAF8	155157934	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.436000	0.82500	0.650000	0.86243	GCT		0.413	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
SCAF8	22828	broad.mit.edu	37	6	155154365	155154365	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:155154365A>C	ENST00000367178.3	+	20	4228	c.3652A>C	c.(3652-3654)Aat>Cat	p.N1218H	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.N1284H|SCAF8_ENST00000417268.1_Missense_Mutation_p.N1218H	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1218					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.N1218H(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TAATGGTGAAAATACAGAGAG	0.413																																					p.N1218H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3652C	6						.						80.0	77.0	78.0					6																	155154365		2203	4300	6503	155196057	SO:0001583	missense	22828	exon20			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3652A>C	6.37:g.155154365A>C	ENSP00000356146:p.Asn1218His		155196057	NM_014892	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.685258	0.47991	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.48836	0.83;0.83;0.8	5.62	5.62	0.85841	.	0.420101	0.22238	U	0.062721	T	0.48295	0.1492	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68765	0.96;0.96;0.96	T	0.55328	-0.8158	10	0.72032	D	0.01	.	15.8082	0.78531	1.0:0.0:0.0:0.0	.	1263;1284;1218	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	H	1218;1218;1284;179	ENSP00000356146:N1218H;ENSP00000413098:N1218H;ENSP00000356154:N1284H	ENSP00000356146:N1218H	N	+	1	0	TIAM2;SCAF8	155196057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.252000	0.65445	2.137000	0.66172	0.533000	0.62120	AAT		0.413	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892	
TIAM2	26230	broad.mit.edu	37	6	155574087	155574087	+	Silent	SNP	G	G	A	rs545488093	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:155574087G>A	ENST00000461783.3	+	26	5398	c.4125G>A	c.(4123-4125)tcG>tcA	p.S1375S	RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000367174.2_Silent_p.S751S|TIAM2_ENST00000275246.7_Silent_p.S300S|TIAM2_ENST00000529824.2_Silent_p.S1404S|TIAM2_ENST00000528391.2_Silent_p.S711S|TIAM2_ENST00000456144.1_Silent_p.S1404S|TIAM2_ENST00000456877.2_Silent_p.S687S|TIAM2_ENST00000360366.4_Silent_p.S1399S|TIAM2_ENST00000318981.5_Silent_p.S1375S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1375	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1375S(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TACAGCCCTCGAATTCCCGGC	0.512																																					p.S1375S												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G4125A	6						.						108.0	97.0	101.0					6																	155574087		2203	4300	6503	155615779	SO:0001819	synonymous_variant	26230	exon23				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4125G>A	6.37:g.155574087G>A			155615779	NM_012454	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	CCDS34558.1																																																																																				0.512	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454	
NOX3	50508	broad.mit.edu	37	6	155718080	155718080	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:155718080A>G	ENST00000159060.2	-	13	1699	c.1597T>C	c.(1597-1599)Ttc>Ctc	p.F533L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	533					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.F533L(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCACAGAAGAACACGCCAATA	0.443																																					p.F533L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1597C	6						.						74.0	75.0	75.0					6																	155718080		2203	4300	6503	155759772	SO:0001583	missense	50508	exon13			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1597T>C	6.37:g.155718080A>G	ENSP00000159060:p.Phe533Leu		155759772	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917264	0.73098	.	.	ENSG00000074771	ENST00000159060	T	0.62941	-0.01	5.53	5.53	0.82687	Ferric reductase, NAD binding (1);	0.000000	0.64402	D	0.000007	D	0.82309	0.5009	H	0.95114	3.625	0.46542	D	0.999098	D	0.76494	0.999	D	0.83275	0.996	D	0.87842	0.2652	10	0.87932	D	0	-23.7516	14.2456	0.65986	1.0:0.0:0.0:0.0	.	533	Q9HBY0	NOX3_HUMAN	L	533	ENSP00000159060:F533L	ENSP00000159060:F533L	F	-	1	0	NOX3	155759772	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	6.385000	0.73182	2.109000	0.64355	0.459000	0.35465	TTC		0.443	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
NOX3	50508	broad.mit.edu	37	6	155776240	155776240	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:155776240A>C	ENST00000159060.2	-	2	174	c.72T>G	c.(70-72)ttT>ttG	p.F24L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	24					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.F24L(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TAAACAGATAAAAATTTATTC	0.353																																					p.F24L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T72G	6						.						52.0	52.0	52.0					6																	155776240		2203	4300	6503	155817932	SO:0001583	missense	50508	exon2			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.72T>G	6.37:g.155776240A>C	ENSP00000159060:p.Phe24Leu		155817932	NM_015718	Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	A	2.672	-0.277288	0.05679	.	.	ENSG00000074771	ENST00000159060	D	0.94862	-3.54	5.47	-10.9	0.00192	.	1.241420	0.05529	N	0.563606	T	0.60612	0.2282	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65030	-0.6267	10	0.23891	T	0.37	0.4753	3.1477	0.06477	0.217:0.2186:0.4213:0.1432	.	24	Q9HBY0	NOX3_HUMAN	L	24	ENSP00000159060:F24L	ENSP00000159060:F24L	F	-	3	2	NOX3	155817932	0.082000	0.21442	0.023000	0.16930	0.571000	0.35966	-1.246000	0.02896	-3.253000	0.00204	-3.076000	0.00066	TTT		0.353	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
TULP4	56995	broad.mit.edu	37	6	158900912	158900912	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:158900912G>A	ENST00000367097.3	+	7	2513	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	TULP4_ENST00000367094.2_Missense_Mutation_p.A386T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	386	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A386T(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GCAGGCCATCGCCAGCACCTT	0.627																																					p.A386T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1156A	6						.						96.0	85.0	88.0					6																	158900912		2203	4300	6503	158820900	SO:0001583	missense	56995	exon7				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1156G>A	6.37:g.158900912G>A	ENSP00000356064:p.Ala386Thr		158820900	NM_001007466	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	36	5.794035	0.96952	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.42900	0.96;0.96	5.63	5.63	0.86233	Tumour necrosis factor-like (1);SOCS protein, C-terminal (3);	0.234944	0.43747	D	0.000529	T	0.34716	0.0907	L	0.29908	0.895	0.80722	D	1	D;D;D	0.63046	0.992;0.975;0.983	P;P;P	0.53988	0.666;0.533;0.739	T	0.02087	-1.1216	10	0.21540	T	0.41	-8.6092	19.6786	0.95946	0.0:0.0:1.0:0.0	.	386;386;386	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	T	386	ENSP00000356064:A386T;ENSP00000356061:A386T	ENSP00000356061:A386T	A	+	1	0	TULP4	158820900	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	7.410000	0.80065	2.651000	0.90000	0.561000	0.74099	GCC		0.627	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245	
TAGAP	117289	broad.mit.edu	37	6	159457677	159457677	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:159457677A>C	ENST00000367066.3	-	10	1709	c.1378T>G	c.(1378-1380)Ttc>Gtc	p.F460V	TAGAP_ENST00000326965.6_Missense_Mutation_p.F282V|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	460					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.F460V(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGCTGGAGAAGGCTTTGAGA	0.577																																					p.F460V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1378G	6						.						84.0	96.0	92.0					6																	159457677		2203	4300	6503	159377665	SO:0001583	missense	117289	exon10			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1378T>G	6.37:g.159457677A>C	ENSP00000356033:p.Phe460Val		159377665	NM_054114	Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	A	10.48	1.361153	0.24684	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.16457	2.34;2.6	6.05	-7.54	0.01332	.	1.573710	0.02913	N	0.136931	T	0.02970	0.0088	L	0.51422	1.61	0.26121	N	0.980543	B	0.10296	0.003	B	0.09377	0.004	T	0.35375	-0.9791	10	0.15952	T	0.53	-0.69	1.3155	0.02106	0.2563:0.1178:0.3217:0.3042	.	460	Q8N103	TAGAP_HUMAN	V	460;282;125	ENSP00000356033:F460V;ENSP00000322650:F282V	ENSP00000322650:F282V	F	-	1	0	TAGAP	159377665	0.041000	0.20044	0.244000	0.24202	0.831000	0.47069	-0.313000	0.08103	-1.675000	0.01459	-0.417000	0.06048	TTC		0.577	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114	
FNDC1	84624	broad.mit.edu	37	6	159644568	159644568	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:159644568G>A	ENST00000297267.9	+	7	975	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.E259K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	259					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E259K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGAAGAGGACGAATTGGATGT	0.488																																					p.E259K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G775A	6						.						141.0	135.0	137.0					6																	159644568		2028	4193	6221	159564556	SO:0001583	missense	84624	exon7			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.775G>A	6.37:g.159644568G>A	ENSP00000297267:p.Glu259Lys		159564556	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.76|13.76	2.333713|2.333713	0.41297|0.41297	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.07688|.	3.17;4.05|.	5.76|5.76	4.88|4.88	0.63580|0.63580	Fibronectin, type III (2);|.	0.300803|.	0.33290|.	N|.	0.005064|.	T|T	0.43077|0.43077	0.1231|0.1231	L|L	0.47716|0.47716	1.5|1.5	0.32760|0.32760	N|N	0.505173|0.505173	D;D|.	0.89917|.	1.0;0.991|.	D;P|.	0.67900|.	0.954;0.646|.	T|T	0.43637|0.43637	-0.9379|-0.9379	10|5	0.41790|.	T|.	0.15|.	-14.4624|-14.4624	15.4264|15.4264	0.75055|0.75055	0.0:0.2629:0.7371:0.0|0.0:0.2629:0.7371:0.0	.|.	259;259|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	K|Q	259|217	ENSP00000297267:E259K;ENSP00000342460:E259K|.	ENSP00000297267:E259K|.	E|R	+|+	1|2	0|0	FNDC1|FNDC1	159564556|159564556	1.000000|1.000000	0.71417|0.71417	0.462000|0.462000	0.27118|0.27118	0.203000|0.203000	0.24098|0.24098	5.794000|5.794000	0.69067|0.69067	1.553000|1.553000	0.49476|0.49476	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.488	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
SOD2	6648	broad.mit.edu	37	6	160109272	160109272	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:160109272C>T	ENST00000546087.1	-	5	1918	c.91G>A	c.(91-93)Gat>Aat	p.D31N	SOD2_ENST00000444946.2_Missense_Mutation_p.D77N|SOD2_ENST00000337404.4_Intron|SOD2_ENST00000367055.4_Missense_Mutation_p.D77N|SOD2_ENST00000367054.2_Intron|SOD2_ENST00000538183.2_Missense_Mutation_p.D77N			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	77					age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)	p.D77N(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		GCTGTAACATCTCCTGAAAAG	0.373																																					p.D77N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229A	6						.						148.0	135.0	139.0					6																	160109272		2203	4300	6503	160029262	SO:0001583	missense	6648	exon3			M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000546087.1:c.91G>A	6.37:g.160109272C>T	ENSP00000442920:p.Asp31Asn		160029262	NM_000636	B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Missense_Mutation	SNP	ENST00000546087.1	37		.	.	.	.	.	.	.	.	.	.	C	18.17	3.565561	0.65651	.	.	ENSG00000112096	ENST00000367055;ENST00000538183;ENST00000546087;ENST00000444946;ENST00000545162;ENST00000535561;ENST00000537657	T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.9	5.02	0.67125	Manganese/iron superoxide dismutase, N-terminal (2);	0.090873	0.85682	D	0.000000	T	0.28499	0.0705	L	0.56199	1.76	0.80722	D	1	P;B;P	0.45715	0.865;0.008;0.806	P;B;P	0.52217	0.686;0.045;0.693	T	0.03545	-1.1026	10	0.54805	T	0.06	-15.1389	17.1116	0.86676	0.0:0.8734:0.1266:0.0	.	77;73;77	B4E3K9;Q7Z7M4;P04179	.;.;SODM_HUMAN	N	77;77;31;77;100;100;31	ENSP00000356022:D77N;ENSP00000446252:D77N;ENSP00000442920:D31N;ENSP00000404804:D77N;ENSP00000441362:D100N;ENSP00000445015:D100N;ENSP00000439191:D31N	ENSP00000356022:D77N	D	-	1	0	SOD2	160029262	1.000000	0.71417	0.982000	0.44146	0.817000	0.46193	7.726000	0.84824	1.477000	0.48234	-0.182000	0.12963	GAT		0.373	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399943.1	NM_000636	
IGF2R	3482	broad.mit.edu	37	6	160467595	160467595	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:160467595T>G	ENST00000356956.1	+	15	2117	c.1969T>G	c.(1969-1971)Tat>Gat	p.Y657D		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	657					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.Y657D(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GACAAAGAAGTATGACTTTTA	0.413																																					p.Y657D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1969G	6						.						80.0	87.0	85.0					6																	160467595		2203	4300	6503	160387585	SO:0001583	missense	3482	exon15			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1969T>G	6.37:g.160467595T>G	ENSP00000349437:p.Tyr657Asp		160387585	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081131	0.76528	.	.	ENSG00000197081	ENST00000356956	T	0.11930	2.73	5.07	5.07	0.68467	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56105	-0.8034	10	0.62326	D	0.03	-6.6708	15.1471	0.72662	0.0:0.0:0.0:1.0	.	657	P11717	MPRI_HUMAN	D	657	ENSP00000349437:Y657D	ENSP00000349437:Y657D	Y	+	1	0	IGF2R	160387585	1.000000	0.71417	0.945000	0.38365	0.823000	0.46562	5.560000	0.67332	2.034000	0.60081	0.533000	0.62120	TAT		0.413	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
IGF2R	3482	broad.mit.edu	37	6	160480093	160480093	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:160480093C>A	ENST00000356956.1	+	22	3202	c.3054C>A	c.(3052-3054)ttC>ttA	p.F1018L		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1018					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.F1018L(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CAGAGGGCTTCATCACTCTGA	0.532																																					p.F1018L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3054A	6						.						108.0	102.0	104.0					6																	160480093		2203	4300	6503	160400083	SO:0001583	missense	3482	exon22			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3054C>A	6.37:g.160480093C>A	ENSP00000349437:p.Phe1018Leu		160400083	NM_000876	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818845	0.16607	.	.	ENSG00000197081	ENST00000356956	T	0.01947	4.54	4.72	-1.52	0.08637	Mannose-6-phosphate receptor, binding (1);	0.337384	0.32624	N	0.005857	T	0.00468	0.0015	L	0.41415	1.275	0.21527	N	0.999653	B	0.06786	0.001	B	0.14023	0.01	T	0.47935	-0.9078	10	0.09590	T	0.72	-4.3878	2.7537	0.05288	0.1355:0.4911:0.1347:0.2387	.	1018	P11717	MPRI_HUMAN	L	1018	ENSP00000349437:F1018L	ENSP00000349437:F1018L	F	+	3	2	IGF2R	160400083	0.006000	0.16342	0.095000	0.20976	0.762000	0.43233	-0.311000	0.08124	-0.165000	0.10908	0.655000	0.94253	TTC		0.532	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
LPA	4018	broad.mit.edu	37	6	161010685	161010685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:161010685G>A	ENST00000316300.5	-	24	3891	c.3847C>T	c.(3847-3849)Cga>Tga	p.R1283*	LPA_ENST00000447678.1_Nonsense_Mutation_p.R1283*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3791	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.R1283*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AATGAGCCTCGATAACTCTGT	0.478																																					p.R1283X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3847T	6						.						155.0	163.0	160.0					6																	161010685		2187	4296	6483	160930675	SO:0001587	stop_gained	4018	exon25			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3847C>T	6.37:g.161010685G>A	ENSP00000321334:p.Arg1283*		160930675	NM_005577	Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	38	7.271033	0.98179	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.74	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1855	0.48653	0.0:0.0:1.0:0.0	.	.	.	.	X	1283	.	ENSP00000321334:R1283X	R	-	1	2	LPA	160930675	1.000000	0.71417	0.267000	0.24556	0.081000	0.17604	4.621000	0.61233	1.531000	0.49152	0.436000	0.28706	CGA		0.478	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
LPA	4018	broad.mit.edu	37	6	161027559	161027559	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:161027559G>A	ENST00000316300.5	-	17	2779	c.2735C>T	c.(2734-2736)gCg>gTg	p.A912V	LPA_ENST00000447678.1_Missense_Mutation_p.A912V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3420	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.A912V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTTGGAGGCGCGACGGCAGT	0.537																																					p.A912V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2735T	6						.						101.0	105.0	104.0					6																	161027559		2051	4248	6299	160947549	SO:0001583	missense	4018	exon18			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2735C>T	6.37:g.161027559G>A	ENSP00000321334:p.Ala912Val		160947549	NM_005577	Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	10.17	1.276915	0.23307	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61274	0.12;0.12	2.18	-4.36	0.03645	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.18593	0.0446	L	0.42245	1.32	0.09310	N	1	D	0.58620	0.983	B	0.38985	0.287	T	0.08249	-1.0731	9	0.36615	T	0.2	.	4.1326	0.10156	0.0:0.2071:0.3159:0.4769	.	3420	P08519	APOA_HUMAN	V	912	ENSP00000321334:A912V;ENSP00000395608:A912V	ENSP00000321334:A912V	A	-	2	0	LPA	160947549	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.202000	0.03023	-1.481000	0.01863	0.184000	0.17185	GCG		0.537	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
GMPR	2766	broad.mit.edu	37	6	16254924	16254924	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:16254924C>T	ENST00000259727.4	+	4	537	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	141					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.F141F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TTGTGGAATTCGTGAAACTTG	0.448																																					p.F141F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C423T	6						.						191.0	178.0	182.0					6																	16254924		2203	4300	6503	16362903	SO:0001819	synonymous_variant	2766	exon4				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.423C>T	6.37:g.16254924C>T			16362903	NM_006877	Q96HQ6	Silent	SNP	ENST00000259727.4	37	CCDS4537.1																																																																																				0.448	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2		
GMPR	2766	broad.mit.edu	37	6	16295406	16295406	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:16295406G>A	ENST00000259727.4	+	9	1141	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	343					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.V343M(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GCACAACACCGTGTTCAGCTA	0.602																																					p.V343M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1027A	6						.						78.0	64.0	69.0					6																	16295406		2203	4300	6503	16403385	SO:0001583	missense	2766	exon9				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.1027G>A	6.37:g.16295406G>A	ENSP00000259727:p.Val343Met		16403385	NM_006877	Q96HQ6	Missense_Mutation	SNP	ENST00000259727.4	37	CCDS4537.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.444776	0.25987	.	.	ENSG00000137198	ENST00000259727	T	0.20738	2.05	5.85	2.07	0.26955	Aldolase-type TIM barrel (1);	0.219098	0.46145	N	0.000313	T	0.07143	0.0181	L	0.53780	1.695	0.36261	D	0.854531	B	0.18610	0.029	B	0.17098	0.017	T	0.06588	-1.0818	10	0.49607	T	0.09	-19.6391	3.4475	0.07486	0.1913:0.1144:0.5761:0.1182	.	343	P36959	GMPR1_HUMAN	M	343	ENSP00000259727:V343M	ENSP00000259727:V343M	V	+	1	0	GMPR	16403385	0.980000	0.34600	0.504000	0.27639	0.811000	0.45836	2.100000	0.41777	0.393000	0.25203	-0.305000	0.09177	GTG		0.602	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039942.2		
PLG	5340	broad.mit.edu	37	6	161134082	161134082	+	Missense_Mutation	SNP	G	G	A	rs141045811		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:161134082G>A	ENST00000308192.9	+	5	535	c.472G>A	c.(472-474)Gat>Aat	p.D158N	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	158	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.D158N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAGACAACGATCCGCAGGG	0.478																																					p.D158N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G472A	6						.						139.0	137.0	138.0					6																	161134082		2203	4300	6503	161054072	SO:0001583	missense	5340	exon5			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.472G>A	6.37:g.161134082G>A	ENSP00000308938:p.Asp158Asn		161054072	NM_000301	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.81	3.896280	0.72639	.	.	ENSG00000122194	ENST00000308192	T	0.65916	-0.18	5.11	5.11	0.69529	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.40469	U	0.001084	T	0.69251	0.3090	M	0.80183	2.485	0.80722	D	1	P	0.45283	0.855	P	0.50934	0.654	T	0.75153	-0.3418	10	0.87932	D	0	.	17.6597	0.88188	0.0:0.0:1.0:0.0	.	158	P00747	PLMN_HUMAN	N	158	ENSP00000308938:D158N	ENSP00000308938:D158N	D	+	1	0	PLG	161054072	1.000000	0.71417	0.585000	0.28666	0.009000	0.06853	7.259000	0.78381	2.541000	0.85698	0.650000	0.86243	GAT		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
SFT2D1	113402	broad.mit.edu	37	6	166743666	166743666	+	Missense_Mutation	SNP	C	C	T	rs201063880		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:166743666C>T	ENST00000361731.3	-	2	242	c.133G>A	c.(133-135)Gtt>Att	p.V45I	SFT2D1_ENST00000487841.1_5'UTR	NM_145169.1	NP_660152.1			SFT2 domain containing 1									p.V45I(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		GAAAAGAAAACGCCACATACG	0.303													c|||	1	0.000199681	0.0	0.0	5008	,	,		16611	0.0		0.0	False		,,,				2504	0.001				p.V45I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	6						.						49.0	49.0	49.0					6																	166743666		2203	4300	6503	166663656	SO:0001583	missense	113402	exon2			AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 83"""	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000361731.3:c.133G>A	6.37:g.166743666C>T	ENSP00000354590:p.Val45Ile		166663656	NM_145169		Missense_Mutation	SNP	ENST00000361731.3	37	CCDS5292.1	.	.	.	.	.	.	.	.	.	.	c	0.886	-0.726980	0.03158	.	.	ENSG00000198818	ENST00000361731	T	0.43294	0.95	5.24	-2.83	0.05769	.	0.316490	0.33572	N	0.004774	T	0.03827	0.0108	N	0.02379	-0.575	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.36359	-0.9751	10	0.02654	T	1	-3.7399	13.5033	0.61469	0.0:0.5936:0.0:0.4064	.	45	Q8WV19	SFT2A_HUMAN	I	45	ENSP00000354590:V45I	ENSP00000354590:V45I	V	-	1	0	SFT2D1	166663656	0.047000	0.20315	0.088000	0.20740	0.817000	0.46193	-1.113000	0.03296	-0.776000	0.04578	-0.556000	0.04195	GTT		0.303	SFT2D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043061.2	NM_145169	
RPS6KA2	6196	broad.mit.edu	37	6	166836896	166836896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:166836896G>A	ENST00000265678.4	-	17	1814	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*	RPS6KA2_ENST00000503859.1_Nonsense_Mutation_p.R539*|RPS6KA2_ENST00000510118.1_Nonsense_Mutation_p.R556*|RPS6KA2_ENST00000405189.3_Nonsense_Mutation_p.R442*|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000481261.2_Nonsense_Mutation_p.R442*	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	531	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.R531*(1)|p.R539*(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TTCAGGTCTCGATGAACAACC	0.597																																					p.R531X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1591T	6						.						57.0	54.0	55.0					6																	166836896		2203	4300	6503	166756886	SO:0001587	stop_gained	6196	exon17			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.1591C>T	6.37:g.166836896G>A	ENSP00000265678:p.Arg531*		166756886	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Nonsense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	.	.	.	.	.	.	.	.	.	.	G	37	6.559976	0.97663	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	.	.	.	3.87	3.87	0.44632	.	0.082989	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.41	0.44287	0.0:0.0:0.8048:0.1951	.	.	.	.	X	531;556;539;442;442	.	ENSP00000265678:R531X	R	-	1	2	RPS6KA2	166756886	1.000000	0.71417	0.232000	0.24009	0.206000	0.24218	1.937000	0.40193	2.005000	0.58758	0.462000	0.41574	CGA		0.597	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
RPS6KA2	6196	broad.mit.edu	37	6	166873029	166873029	+	Missense_Mutation	SNP	C	C	T	rs181011882		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:166873029C>T	ENST00000265678.4	-	12	1206	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R336Q|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.R353Q|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R239Q|RPS6KA2-IT1_ENST00000416770.1_RNA|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R239Q	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	328	AGC-kinase C-terminal.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.R328Q(1)|p.R336Q(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GATCTCCTTCCGGTACAGCGT	0.567																																					p.R328Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G983A	6						.	C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	160.0	119.0	133.0		1007,983	5.0	1.0	6		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RPS6KA2	NM_001006932.1,NM_021135.4	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	336/742,328/734	166873029	1,13005	2203	4300	6503	166793019	SO:0001583	missense	6196	exon12			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.983G>A	6.37:g.166873029C>T	ENSP00000265678:p.Arg328Gln		166793019	NM_021135	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	ENST00000265678.4	37	CCDS5294.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	15.14	2.743691	0.49151	0.0	1.16E-4	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.0	5.0	0.66597	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.055818	0.64402	D	0.000002	T	0.20170	0.0485	L	0.39692	1.235	0.80722	D	1	P;B;B	0.36086	0.536;0.418;0.013	B;B;B	0.23150	0.032;0.044;0.001	T	0.10245	-1.0638	10	0.51188	T	0.08	.	16.892	0.86090	0.0:1.0:0.0:0.0	.	353;336;328	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	Q	328;353;336;239;239	ENSP00000265678:R328Q;ENSP00000422435:R353Q;ENSP00000427015:R336Q;ENSP00000422484:R239Q;ENSP00000386050:R239Q	ENSP00000265678:R328Q	R	-	2	0	RPS6KA2	166793019	0.987000	0.35691	0.992000	0.48379	0.570000	0.35934	4.790000	0.62453	2.319000	0.78375	0.563000	0.77884	CGG		0.567	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043075.3	NM_021135	
FGFR1OP	11116	broad.mit.edu	37	6	167435986	167435986	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:167435986A>G	ENST00000366847.4	+	8	900	c.669A>G	c.(667-669)gaA>gaG	p.E223E	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Silent_p.E203E	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	223					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.E223E(1)		large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TGTCCCATGAAACAAAAATTG	0.413			T	FGFR1	"""MPD, NHL"""																																p.E203E			Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A609G	6						.						95.0	91.0	92.0					6																	167435986		2203	4300	6503	167355976	SO:0001819	synonymous_variant	11116	exon7			Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.669A>G	6.37:g.167435986A>G			167355976	NM_194429	A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Silent	SNP	ENST00000366847.4	37	CCDS5296.1																																																																																				0.413	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043099.2	NM_007045	
SMOC2	64094	broad.mit.edu	37	6	168910759	168910759	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:168910759C>T	ENST00000356284.2	+	2	469	c.249C>T	c.(247-249)aaC>aaT	p.N83N	SMOC2_ENST00000354536.5_Silent_p.N83N	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	83	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ATCGAGGAAACTGCAAAGGTA	0.408																																					p.N83N												.	.	0			c.C249T	6						.						83.0	77.0	79.0					6																	168910759		2203	4300	6503	168653608	SO:0001819	synonymous_variant	64094	exon2			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.249C>T	6.37:g.168910759C>T			168653608	NM_001166412	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Silent	SNP	ENST00000356284.2	37	CCDS55076.1																																																																																				0.408	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1		
EXOC2	55770	broad.mit.edu	37	6	564562	564562	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:564562G>A	ENST00000230449.4	-	15	1785	c.1650C>T	c.(1648-1650)caC>caT	p.H550H	EXOC2_ENST00000448181.3_Silent_p.H145H	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	550					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.H550H(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCTGGATGGCGTGAGCGAGCC	0.517																																					p.H550H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1650T	6						.						83.0	82.0	82.0					6																	564562		2203	4300	6503	509562	SO:0001819	synonymous_variant	55770	exon15			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1650C>T	6.37:g.564562G>A			509562	NM_018303	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	ENST00000230449.4	37	CCDS34327.1																																																																																				0.517	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	
SERPINB9	5272	broad.mit.edu	37	6	2896378	2896378	+	Missense_Mutation	SNP	G	G	A	rs555422802		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:2896378G>A	ENST00000380698.4	-	3	304	c.215C>T	c.(214-216)tCg>tTg	p.S72L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	72					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S72L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				AGTGAGAAGCGACTGGAAAGC	0.448													A|||	1	0.000199681	0.0	0.0	5008	,	,		17741	0.0		0.0	False		,,,				2504	0.001				p.S72L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C215T	6						.						124.0	123.0	124.0					6																	2896378		2203	4300	6503	2841377	SO:0001583	missense	5272	exon3			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.215C>T	6.37:g.2896378G>A	ENSP00000370074:p.Ser72Leu		2841377	NM_004155	B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.264484	0.23136	.	.	ENSG00000170542	ENST00000380698	D	0.84660	-1.88	4.21	-7.06	0.01568	Serpin domain (3);	1.074070	0.07007	N	0.824508	T	0.50973	0.1647	L	0.33137	0.985	0.09310	N	1	B	0.19073	0.033	B	0.17098	0.017	T	0.33445	-0.9868	10	0.34782	T	0.22	.	4.6613	0.12643	0.4367:0.0887:0.3845:0.0901	.	72	P50453	SPB9_HUMAN	L	72	ENSP00000370074:S72L	ENSP00000370074:S72L	S	-	2	0	SERPINB9	2841377	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.479000	0.00983	-2.623000	0.00438	-1.632000	0.00781	TCG		0.448	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1		
FAM217A	222826	broad.mit.edu	37	6	4069009	4069009	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:4069009A>G	ENST00000274673.3	-	7	1851	c.1448T>C	c.(1447-1449)tTc>tCc	p.F483S	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	483								p.F483S(1)									CTGAATAGAGAATGGTCTATT	0.368																																					p.F483S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1448C	6						.						94.0	100.0	98.0					6																	4069009		2203	4300	6503	4014008	SO:0001583	missense	222826	exon7			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 146"""	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.1448T>C	6.37:g.4069009A>G	ENSP00000274673:p.Phe483Ser		4014008	NM_173563	Q5JYK1	Missense_Mutation	SNP	ENST00000274673.3	37	CCDS4489.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013643	0.54468	.	.	ENSG00000145975	ENST00000274673;ENST00000538080	T	0.19394	2.15	4.94	3.75	0.43078	.	0.111766	0.40818	N	0.001015	T	0.19644	0.0472	L	0.59436	1.845	0.27838	N	0.941198	D	0.55385	0.971	P	0.58454	0.839	T	0.04678	-1.0934	10	0.87932	D	0	.	7.7572	0.28932	0.8142:0.0:0.0:0.1858	.	483	Q8IXS0	CF146_HUMAN	S	483;330	ENSP00000274673:F483S	ENSP00000274673:F483S	F	-	2	0	C6orf146	4014008	0.907000	0.30839	0.854000	0.33618	0.833000	0.47200	3.217000	0.51184	0.863000	0.35553	0.477000	0.44152	TTC		0.368	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352577.2	NM_173563	
CDYL	9425	broad.mit.edu	37	6	4935846	4935846	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:4935846C>T	ENST00000328908.5	+	5	1082	c.951C>T	c.(949-951)gaC>gaT	p.D317D	CDYL_ENST00000449732.2_Silent_p.D131D|CDYL_ENST00000343762.5_Silent_p.D131D|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Silent_p.D263D			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	317					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.D317D(2)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AATTTATTGACGACAGAAGAG	0.458																																					p.D131D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C393T	6						.						115.0	112.0	113.0					6																	4935846		2203	4300	6503	4880845	SO:0001819	synonymous_variant	9425	exon3			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.951C>T	6.37:g.4935846C>T			4880845	NM_001143970	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37																																																																																					0.458	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	
CDYL	9425	broad.mit.edu	37	6	4943786	4943786	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:4943786C>T	ENST00000328908.5	+	7	1421	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	CDYL_ENST00000449732.2_Silent_p.F244F|CDYL_ENST00000343762.5_Silent_p.F244F|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Silent_p.F376F			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	430					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.F430F(3)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTAGAAACTTCGTGAATACTT	0.338																																					p.F244F												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C732T	6						.						64.0	67.0	66.0					6																	4943786		2203	4300	6503	4888785	SO:0001819	synonymous_variant	9425	exon5			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1290C>T	6.37:g.4943786C>T			4888785	NM_001143970	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	ENST00000328908.5	37																																																																																					0.338	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824	
RPP40	10799	broad.mit.edu	37	6	4995409	4995409	+	Missense_Mutation	SNP	C	C	T	rs575359259		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:4995409C>T	ENST00000380051.2	-	8	1039	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	RPP40_ENST00000319533.5_Missense_Mutation_p.R309Q|RPP40_ENST00000464646.1_Missense_Mutation_p.R272Q	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	332					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)	p.R332Q(1)		NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TCCTCCTTTTCGAAAACCATG	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17472	0.0		0.0	False		,,,				2504	0.0				p.R332Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G995A	6						.						76.0	77.0	76.0					6																	4995409		2203	4300	6503	4940408	SO:0001583	missense	10799	exon8			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.995G>A	6.37:g.4995409C>T	ENSP00000369391:p.Arg332Gln		4940408	NM_006638	Q5VX97|Q8WVK8	Missense_Mutation	SNP	ENST00000380051.2	37	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	3.271	-0.149164	0.06585	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.40756	1.02;1.02;1.02	4.93	-5.23	0.02798	.	1.273270	0.05010	N	0.470744	T	0.07188	0.0182	N	0.11560	0.145	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.06405	0.001;0.002	T	0.19484	-1.0304	10	0.29301	T	0.29	-8.923	8.4089	0.32632	0.2117:0.1336:0.0:0.6548	.	309;332	O75818-2;O75818	.;RPP40_HUMAN	Q	332;309;272	ENSP00000369391:R332Q;ENSP00000317998:R309Q;ENSP00000419431:R272Q	ENSP00000317998:R309Q	R	-	2	0	RPP40	4940408	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.691000	0.05133	-1.475000	0.01876	-0.266000	0.10368	CGA		0.398	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638	
FARS2	10667	broad.mit.edu	37	6	5431351	5431351	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:5431351G>T	ENST00000324331.6	+	4	1186	c.850G>T	c.(850-852)Gaa>Taa	p.E284*	FARS2_ENST00000274680.4_Nonsense_Mutation_p.E284*			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	284					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.E284*(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CTTTCATGGAGAATGGCTGGA	0.428																																					p.E284X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G850T	6						.						185.0	172.0	176.0					6																	5431351		2203	4300	6503	5376350	SO:0001587	stop_gained	10667	exon4			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.850G>T	6.37:g.5431351G>T	ENSP00000316335:p.Glu284*		5376350	NM_006567	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Nonsense_Mutation	SNP	ENST00000324331.6	37	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903963	0.72754	.	.	ENSG00000145982	ENST00000274680;ENST00000397563;ENST00000324331;ENST00000445533	.	.	.	5.5	2.69	0.31865	.	0.245105	0.40064	N	0.001197	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-5.6078	7.6756	0.28484	0.1488:0.1364:0.7147:0.0	.	.	.	.	X	284;134;284;80	.	ENSP00000274680:E284X	E	+	1	0	FARS2	5376350	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.987000	0.56944	0.669000	0.31146	0.585000	0.79938	GAA		0.428	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567	
F13A1	2162	broad.mit.edu	37	6	6222358	6222358	+	Missense_Mutation	SNP	G	G	T	rs35516060		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:6222358G>T	ENST00000264870.3	-	8	1285	c.1020C>A	c.(1018-1020)ttC>ttA	p.F340L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	340					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.F340L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CATGGGCAGAGAAATAATTGG	0.403																																					p.F340L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1020A	6						.						119.0	103.0	109.0					6																	6222358		2203	4300	6503	6167357	SO:0001583	missense	2162	exon8			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1020C>A	6.37:g.6222358G>T	ENSP00000264870:p.Phe340Leu		6167357	NM_000129	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.942416|1.942416	0.34283|0.34283	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000264870;ENST00000441301|ENST00000445223	D|.	0.94576|.	-3.46|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Transglutaminase-like (2);|.	0.158555|.	0.56097|.	D|.	0.000025|.	T|T	0.28167|0.28167	0.0695|0.0695	N|N	0.14661|0.14661	0.345|0.345	0.51233|0.51233	D|D	0.999914|0.999914	B;P|.	0.52170|.	0.288;0.951|.	B;B|.	0.43251|.	0.124;0.413|.	T|T	0.12785|0.12785	-1.0534|-1.0534	10|5	0.11485|.	T|.	0.65|.	.|.	12.4885|12.4885	0.55886|0.55886	0.0832:0.0:0.9168:0.0|0.0832:0.0:0.9168:0.0	.|.	277;340|.	F5H080;P00488|.	.;F13A_HUMAN|.	L|Y	340;277|57	ENSP00000264870:F340L|.	ENSP00000264870:F340L|.	F|S	-|-	3|2	2|0	F13A1|F13A1	6167357|6167357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.082000|4.082000	0.57635|0.57635	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.403	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
LY86	9450	broad.mit.edu	37	6	6626553	6626553	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:6626553A>G	ENST00000379953.2	+	4	603	c.251A>G	c.(250-252)gAc>gGc	p.D84G	LY86_ENST00000230568.4_Missense_Mutation_p.D84G			O95711	LY86_HUMAN	lymphocyte antigen 86	84					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.D84G(1)		large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CTTTTTCTTGACCTAGCTCTC	0.443																																					p.D84G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A251G	6						.						159.0	144.0	149.0					6																	6626553		2203	4300	6503	6571552	SO:0001583	missense	9450	exon3			AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.251A>G	6.37:g.6626553A>G	ENSP00000369286:p.Asp84Gly		6571552	NM_004271	Q9UQC4	Missense_Mutation	SNP	ENST00000379953.2	37	CCDS4498.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336392	0.60963	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	T;T	0.50548	0.74;0.74	5.3	5.3	0.74995	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.339174	0.28736	N	0.014303	T	0.51075	0.1653	M	0.64997	1.995	0.22096	N	0.999364	D	0.67145	0.996	D	0.73380	0.98	T	0.48536	-0.9027	10	0.41790	T	0.15	-27.494	11.6444	0.51253	1.0:0.0:0.0:0.0	.	84	O95711	LY86_HUMAN	G	84	ENSP00000369286:D84G;ENSP00000230568:D84G	ENSP00000230568:D84G	D	+	2	0	LY86	6571552	0.956000	0.32656	0.018000	0.16275	0.265000	0.26407	3.087000	0.50167	1.997000	0.58415	0.533000	0.62120	GAC		0.443	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2		
DSP	1832	broad.mit.edu	37	6	7562916	7562916	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:7562916A>G	ENST00000379802.3	+	5	970	c.629A>G	c.(628-630)gAc>gGc	p.D210G	DSP_ENST00000418664.2_Missense_Mutation_p.D210G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	210	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D210G(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGGGTGTGGACCTGGCCTCA	0.572																																					p.D210G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A629G	6						.						171.0	173.0	172.0					6																	7562916		2203	4300	6503	7507915	SO:0001583	missense	1832	exon5			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.629A>G	6.37:g.7562916A>G	ENSP00000369129:p.Asp210Gly		7507915	NM_001008844	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.710393	0.89018	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	D;D	0.94000	-3.33;-3.33	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	D	0.96182	0.8755	M	0.81942	2.565	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.96145	0.9103	10	0.51188	T	0.08	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	257;210	Q4LE79;P15924	.;DESP_HUMAN	G	210;210;15	ENSP00000369129:D210G;ENSP00000396591:D210G	ENSP00000369129:D210G	D	+	2	0	DSP	7507915	1.000000	0.71417	0.999000	0.59377	0.705000	0.40729	8.790000	0.91844	2.191000	0.70037	0.533000	0.62120	GAC		0.572	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
BMP6	654	broad.mit.edu	37	6	7879329	7879329	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:7879329A>C	ENST00000283147.6	+	5	1386	c.1227A>C	c.(1225-1227)aaA>aaC	p.K409N		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	409					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.K409N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GTGAATTGAAAACAGCCTGCA	0.453																																					p.K409N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1227C	6						.						148.0	147.0	148.0					6																	7879329		2203	4300	6503	7824328	SO:0001583	missense	654	exon5			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1227A>C	6.37:g.7879329A>C	ENSP00000283147:p.Lys409Asn		7824328	NM_001718	Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.544348	0.65198	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	D	0.88664	-2.41	5.69	2.02	0.26589	Transforming growth factor-beta, C-terminal (1);	0.142120	0.64402	D	0.000007	D	0.83608	0.5291	N	0.22421	0.69	0.47737	D	0.999509	D	0.65815	0.995	D	0.65323	0.934	D	0.83863	0.0269	10	0.72032	D	0.01	.	9.4095	0.38482	0.7981:0.0:0.2019:0.0	.	409	P22004	BMP6_HUMAN	N	331;409;372	ENSP00000283147:K409N	ENSP00000283147:K409N	K	+	3	2	BMP6	7824328	1.000000	0.71417	0.703000	0.30354	0.801000	0.45260	1.682000	0.37628	0.111000	0.17947	-0.250000	0.11733	AAA		0.453	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718	
KIF13A	63971	broad.mit.edu	37	6	17781022	17781022	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:17781022T>C	ENST00000259711.6	-	31	3890	c.3785A>G	c.(3784-3786)cAc>cGc	p.H1262R	KIF13A_ENST00000378814.5_Missense_Mutation_p.H1249R|KIF13A_ENST00000378826.2_Missense_Mutation_p.H1262R|KIF13A_ENST00000378816.5_Missense_Mutation_p.H1262R|KIF13A_ENST00000378843.2_Missense_Mutation_p.H1249R	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1262					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H1262R(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGCAGCAGGGTGGCTGAGTTG	0.438																																					p.H1262R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3785G	6						.						127.0	125.0	125.0					6																	17781022		1945	4153	6098	17889001	SO:0001583	missense	63971	exon31			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3785A>G	6.37:g.17781022T>C	ENSP00000259711:p.His1262Arg		17889001	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.8|27.8	4.860681|4.860681	0.91433|0.91433	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044|ENST00000358380	T;T;T;T;T;T|.	0.72835|.	-0.68;1.74;-0.69;-0.68;-0.68;-0.68|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75903|0.75903	0.3913|0.3913	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.986;0.997;0.995;0.997|.	T|T	0.79834|0.79834	-0.1636|-0.1636	10|5	0.87932|.	D|.	0|.	.|.	16.2987|16.2987	0.82793|0.82793	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1249;1262;1262;1249|.	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3|.	.;.;KI13A_HUMAN;.|.	R|A	1249;266;1262;1262;1249;1262;260|656	ENSP00000368091:H1249R;ENSP00000425616:H266R;ENSP00000259711:H1262R;ENSP00000368103:H1262R;ENSP00000368120:H1249R;ENSP00000368093:H1262R|.	ENSP00000259711:H1262R|.	H|T	-|-	2|1	0|0	KIF13A|KIF13A	17889001|17889001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.655000|7.655000	0.83696|0.83696	2.257000|2.257000	0.74773|0.74773	0.459000|0.459000	0.35465|0.35465	CAC|ACC		0.438	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
KIF13A	63971	broad.mit.edu	37	6	17826299	17826299	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:17826299C>T	ENST00000259711.6	-	15	1694	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	KIF13A_ENST00000378814.5_Missense_Mutation_p.R530Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R530Q|KIF13A_ENST00000378816.5_Missense_Mutation_p.R530Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.R530Q	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	530					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R530Q(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCATAGGATTCGGTCACCATG	0.408																																					p.R530Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1589A	6						.						82.0	78.0	79.0					6																	17826299		1892	4130	6022	17934278	SO:0001583	missense	63971	exon15			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1589G>A	6.37:g.17826299C>T	ENSP00000259711:p.Arg530Gln		17934278	NM_022113	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736729	0.96865	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.8	5.8	0.92144	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.91043	0.7182	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.997;0.998;0.996	D	0.92404	0.5932	10	0.87932	D	0	.	20.0544	0.97645	0.0:1.0:0.0:0.0	.	501;530;530;530;530	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	Q	530	ENSP00000368091:R530Q;ENSP00000259711:R530Q;ENSP00000368103:R530Q;ENSP00000368120:R530Q;ENSP00000368093:R530Q	ENSP00000259711:R530Q	R	-	2	0	KIF13A	17934278	1.000000	0.71417	0.929000	0.37066	0.931000	0.56810	7.792000	0.85828	2.746000	0.94184	0.591000	0.81541	CGA		0.408	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
DEK	7913	broad.mit.edu	37	6	18256059	18256059	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:18256059C>T	ENST00000397239.3	-	6	923	c.476G>A	c.(475-477)aGc>aAc	p.S159N	DEK_ENST00000244776.7_Missense_Mutation_p.S125N	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	159	SAP.				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.S159N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CTCACAGATGCTCTTTAACAT	0.363			T	NUP214	AML																																p.S159N			Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G476A	6						.						100.0	98.0	99.0					6																	18256059		2203	4300	6503	18364038	SO:0001583	missense	7913	exon6			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.476G>A	6.37:g.18256059C>T	ENSP00000380414:p.Ser159Asn		18364038	NM_003472	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088984	0.36855	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000503715	T;T;T	0.44083	0.95;0.95;0.93	5.87	5.0	0.66597	DNA-binding SAP (2);	0.291545	0.43579	D	0.000545	T	0.11153	0.0272	N	0.12182	0.205	0.34318	D	0.686193	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.09378	-1.0677	10	0.21540	T	0.41	-5.7791	10.6169	0.45456	0.0:0.8573:0.0:0.1427	.	125;159	B4DN37;P35659	.;DEK_HUMAN	N	159;125;92	ENSP00000380414:S159N;ENSP00000244776:S125N;ENSP00000425399:S92N	ENSP00000244776:S125N	S	-	2	0	DEK	18364038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.615000	0.46368	2.767000	0.95098	0.591000	0.81541	AGC		0.363	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4		
MBOAT1	154141	broad.mit.edu	37	6	20118733	20118733	+	Missense_Mutation	SNP	C	C	T	rs199705606		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:20118733C>T	ENST00000324607.7	-	9	1110	c.946G>A	c.(946-948)Gga>Aga	p.G316R	MBOAT1_ENST00000541730.1_Missense_Mutation_p.G167R	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	316					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.G316R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TTATCCACTCCGCTGAACCCA	0.398																																					p.G316R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G946A	6						.						129.0	106.0	114.0					6																	20118733		2203	4300	6503	20226712	SO:0001583	missense	154141	exon9			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.946G>A	6.37:g.20118733C>T	ENSP00000324944:p.Gly316Arg		20226712	NM_001080480	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	ENST00000324607.7	37	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163714	0.94727	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	T;T	0.25579	1.79;2.21	6.17	5.31	0.75309	.	0.146380	0.64402	D	0.000009	T	0.52208	0.1720	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66268	-0.5966	10	0.72032	D	0.01	-14.7754	15.5517	0.76158	0.0:0.9345:0.0:0.0655	.	167;316	Q6ZNC8-2;Q6ZNC8	.;MBOA1_HUMAN	R	167;316	ENSP00000441568:G167R;ENSP00000324944:G316R	ENSP00000324944:G316R	G	-	1	0	MBOAT1	20226712	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.787000	0.85759	1.635000	0.50512	0.655000	0.94253	GGA		0.398	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		
PRL	5617	broad.mit.edu	37	6	22294638	22294638	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:22294638G>A	ENST00000306482.1	-	2	722	c.204C>T	c.(202-204)ttC>ttT	p.F68F	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	68					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)	p.F68F(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TGGTACTTACGAATTCGCTGA	0.527																																					p.F68F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C204T	6						.						95.0	88.0	90.0					6																	22294638		2203	4300	6503	22402617	SO:0001630	splice_region_variant	5617	exon2			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.204+1C>T	6.37:g.22294638G>A			22402617	NM_000948	Q15199|Q92996	Silent	SNP	ENST00000306482.1	37	CCDS4548.1																																																																																				0.527	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948	Silent
ALDH5A1	7915	broad.mit.edu	37	6	24502759	24502759	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:24502759T>G	ENST00000357578.3	+	2	508	c.363T>G	c.(361-363)agT>agG	p.S121R	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S121R|ALDH5A1_ENST00000491546.1_Intron|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S33R	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	121					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.S121R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	AGGAGAGGAGTTCATTACTTC	0.348																																					p.S121R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T363G	6						.						144.0	131.0	136.0					6																	24502759		2203	4300	6503	24610738	SO:0001583	missense	7915	exon2			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.363T>G	6.37:g.24502759T>G	ENSP00000350191:p.Ser121Arg		24610738	NM_170740	B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.599840	0.46318	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000348925	T;T;T	0.76060	-0.99;-0.99;-0.99	5.35	-1.34	0.09143	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	L	0.42744	1.35	0.40121	D	0.976604	D;D	0.89917	1.0;1.0	D;D	0.78314	0.989;0.991	T	0.73183	-0.4063	10	0.87932	D	0	.	11.2972	0.49284	0.0:0.4709:0.0:0.5291	.	121;121	P51649;G5E949	SSDH_HUMAN;.	R	121;33;121	ENSP00000350191:S121R;ENSP00000438193:S33R;ENSP00000314649:S121R	ENSP00000314649:S121R	S	+	3	2	ALDH5A1	24610738	0.012000	0.17670	0.167000	0.22817	0.653000	0.38743	-0.058000	0.11750	-0.226000	0.09899	0.254000	0.18369	AGT		0.348	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2		
TDP2	51567	broad.mit.edu	37	6	24658942	24658942	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:24658942T>G	ENST00000378198.4	-	3	442	c.272A>C	c.(271-273)gAa>gCa	p.E91A	TDP2_ENST00000545995.1_Missense_Mutation_p.E121A|TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000341060.3_Missense_Mutation_p.E33A			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	91					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)	p.E91A(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						ATCAGTTGTTTCTTCATTGGT	0.348								Direct reversal of damage																													p.E91A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A272C	6						.						190.0	172.0	178.0					6																	24658942		2203	4300	6503	24766921	SO:0001583	missense	51567	exon3			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.272A>C	6.37:g.24658942T>G	ENSP00000367440:p.Glu91Ala		24766921	NM_016614	B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	T	10.22	1.291208	0.23564	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000341060	T;T;T	0.24151	1.89;1.87;1.87	5.65	4.54	0.55810	.	1.062320	0.07184	N	0.854518	T	0.15652	0.0377	L	0.56769	1.78	0.09310	N	1	B;B	0.16802	0.019;0.004	B;B	0.17722	0.019;0.008	T	0.21449	-1.0245	10	0.49607	T	0.09	-18.0204	13.507	0.61489	0.0:0.0:0.1946:0.8054	.	121;91	O95551-2;O95551	.;TYDP2_HUMAN	A	91;121;33	ENSP00000367440:E91A;ENSP00000437637:E121A;ENSP00000345345:E33A	ENSP00000345345:E33A	E	-	2	0	TDP2	24766921	0.723000	0.28027	0.892000	0.35008	0.926000	0.56050	1.005000	0.29834	2.151000	0.67156	0.460000	0.39030	GAA		0.348	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1		
LRRC16A	55604	broad.mit.edu	37	6	25600615	25600615	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:25600615C>T	ENST00000329474.6	+	33	3561	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1065	Inhibits capping activity of CAPZA2. {ECO:0000250}.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.R1065W(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGAGATTCTCGGAAAAGTAG	0.453																																					p.R1065W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3193T	6						.						71.0	69.0	70.0					6																	25600615		1851	4098	5949	25708594	SO:0001583	missense	55604	exon33			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3193C>T	6.37:g.25600615C>T	ENSP00000331983:p.Arg1065Trp		25708594	NM_017640	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466103	0.63625	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.25085	1.82	5.2	4.34	0.51931	.	0.452224	0.20760	N	0.086192	T	0.34250	0.0891	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.997	T	0.22277	-1.0221	10	0.87932	D	0	.	8.0787	0.30731	0.2611:0.6607:0.0:0.0783	.	1065;1065;1065	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	W	1065	ENSP00000331983:R1065W	ENSP00000331983:R1065W	R	+	1	2	LRRC16A	25708594	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	0.963000	0.29293	1.179000	0.42884	-0.391000	0.06502	CGG		0.453	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	
SCGN	10590	broad.mit.edu	37	6	25653639	25653639	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:25653639G>A	ENST00000377961.2	+	2	280	c.112G>A	c.(112-114)Gat>Aat	p.D38N	SCGN_ENST00000334979.6_Intron	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.D38N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAAGGAACTCGATGCTTTCTT	0.318																																					p.D38N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	6						.						121.0	113.0	116.0					6																	25653639		2203	4300	6503	25761618	SO:0001583	missense	10590	exon2			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.112G>A	6.37:g.25653639G>A	ENSP00000367197:p.Asp38Asn		25761618	NM_006998	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678775	0.47886	.	.	ENSG00000079689	ENST00000377961	T	0.08984	3.03	5.25	4.38	0.52667	EF-hand-like domain (1);	0.089047	0.85682	D	0.000000	T	0.02970	0.0088	L	0.49778	1.585	0.80722	D	1	B	0.34226	0.443	B	0.19148	0.024	T	0.35375	-0.9791	10	0.49607	T	0.09	.	9.6327	0.39789	0.0959:0.0:0.9041:0.0	.	38	O76038	SEGN_HUMAN	N	38	ENSP00000367197:D38N	ENSP00000367197:D38N	D	+	1	0	SCGN	25761618	1.000000	0.71417	0.879000	0.34478	0.993000	0.82548	4.506000	0.60428	1.200000	0.43188	0.655000	0.94253	GAT		0.318	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1		
SCGN	10590	broad.mit.edu	37	6	25669746	25669746	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:25669746G>A	ENST00000377961.2	+	5	512	c.344G>A	c.(343-345)cGc>cAc	p.R115H	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	115	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.R115H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGATTTGGCGCAAATATGAC	0.398																																					p.R115H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G344A	6						.						162.0	158.0	159.0					6																	25669746		2203	4300	6503	25777725	SO:0001583	missense	10590	exon5			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.344G>A	6.37:g.25669746G>A	ENSP00000367197:p.Arg115His		25777725	NM_006998	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560880	0.86335	.	.	ENSG00000079689	ENST00000377961	T	0.73152	-0.72	5.27	5.27	0.74061	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.82252	-0.0549	10	0.62326	D	0.03	.	17.6513	0.88164	0.0:0.0:1.0:0.0	.	115	O76038	SEGN_HUMAN	H	115	ENSP00000367197:R115H	ENSP00000367197:R115H	R	+	2	0	SCGN	25777725	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.160000	0.77495	2.454000	0.82982	0.563000	0.77884	CGC		0.398	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1		
SCGN	10590	broad.mit.edu	37	6	25701473	25701473	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:25701473G>T	ENST00000377961.2	+	11	909	c.741G>T	c.(739-741)gaG>gaT	p.E247D	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	247	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.E247D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGTTCCGCGAGATTCTCCTGC	0.498																																					p.E247D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G741T	6						.						124.0	106.0	112.0					6																	25701473		2203	4300	6503	25809452	SO:0001583	missense	10590	exon11			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.741G>T	6.37:g.25701473G>T	ENSP00000367197:p.Glu247Asp		25809452	NM_006998	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756171	0.49362	.	.	ENSG00000079689	ENST00000377961	T	0.09350	2.99	5.43	4.56	0.56223	EF-hand-like domain (1);	0.321080	0.33327	N	0.005023	T	0.03915	0.0110	L	0.35854	1.095	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.25047	-1.0143	10	0.30078	T	0.28	.	13.2637	0.60120	0.0784:0.0:0.9216:0.0	.	247	O76038	SEGN_HUMAN	D	247	ENSP00000367197:E247D	ENSP00000367197:E247D	E	+	3	2	SCGN	25809452	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.458000	0.45014	1.268000	0.44264	-0.150000	0.13652	GAG		0.498	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1		
SLC17A3	10786	broad.mit.edu	37	6	25849624	25849624	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:25849624A>G	ENST00000360657.3	-	10	1391	c.1106T>C	c.(1105-1107)gTc>gCc	p.V369A	SLC17A3_ENST00000397060.4_Missense_Mutation_p.V447A|SLC17A3_ENST00000361703.6_Missense_Mutation_p.V369A			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	369					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.V369A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AAATCCACTGACAGTGGGTAC	0.418																																					p.V447A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1340C	6						.						79.0	74.0	76.0					6																	25849624		2203	4300	6503	25957603	SO:0001583	missense	10786	exon11			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.1106T>C	6.37:g.25849624A>G	ENSP00000353873:p.Val369Ala		25957603	NM_001098486	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	CCDS4566.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.808|8.808	0.934492|0.934492	0.18206|0.18206	.|.	.|.	ENSG00000124564|ENSG00000124564	ENST00000481949|ENST00000397060;ENST00000360657;ENST00000361703	.|T;T;T	.|0.60171	.|0.21;0.21;0.21	4.55|4.55	2.16|2.16	0.27623|0.27623	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.585112	.|0.14104	.|N	.|0.341196	T|T	0.30198|0.30198	0.0757|0.0757	M|M	0.61703|0.61703	1.905|1.905	0.09310|0.09310	N|N	1|1	.|B;P	.|0.45283	.|0.325;0.855	.|B;B	.|0.41135	.|0.188;0.348	T|T	0.06534|0.06534	-1.0821|-1.0821	5|10	.|0.23891	.|T	.|0.37	.|.	5.5301|5.5301	0.16980|0.16980	0.7752:0.0:0.2248:0.0|0.7752:0.0:0.2248:0.0	.|.	.|447;369	.|B7Z511;O00476	.|.;NPT4_HUMAN	P|A	48|447;369;369	.|ENSP00000380250:V447A;ENSP00000353873:V369A;ENSP00000355307:V369A	.|ENSP00000353873:V369A	S|V	-|-	1|2	0|0	SLC17A3|SLC17A3	25957603|25957603	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	0.197000|0.197000	0.17197|0.17197	0.709000|0.709000	0.31976|0.31976	0.528000|0.528000	0.53228|0.53228	TCA|GTC		0.418	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2		
SLC17A2	10246	broad.mit.edu	37	6	25916062	25916062	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:25916062G>A	ENST00000265425.3	-	8	985	c.965C>T	c.(964-966)gCt>gTt	p.A322V	SLC17A2_ENST00000377850.3_Missense_Mutation_p.A322V|SLC17A2_ENST00000360488.3_Missense_Mutation_p.A322V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	322					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.A322V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						ACAGCTTGCAGCAGCAATAAA	0.418																																					p.A322V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C965T	6						.						55.0	53.0	53.0					6																	25916062		2203	4300	6503	26024041	SO:0001583	missense	10246	exon9			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.965C>T	6.37:g.25916062G>A	ENSP00000265425:p.Ala322Val		26024041	NM_005835	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.099175	0.76983	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.58797	0.31;0.31;0.31	5.03	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000040	T	0.65995	0.2745	M	0.76002	2.32	0.35756	D	0.819768	D;D;D	0.67145	0.996;0.993;0.996	D;D;D	0.68621	0.959;0.925;0.948	T	0.63829	-0.6548	10	0.27785	T	0.31	.	14.1226	0.65198	0.0:0.0:1.0:0.0	.	322;322;322	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	V	322	ENSP00000353677:A322V;ENSP00000367081:A322V;ENSP00000265425:A322V	ENSP00000265425:A322V	A	-	2	0	SLC17A2	26024041	1.000000	0.71417	0.979000	0.43373	0.960000	0.62799	2.898000	0.48672	2.786000	0.95864	0.650000	0.86243	GCT		0.418	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		
SLC17A2	10246	broad.mit.edu	37	6	25917058	25917058	+	Missense_Mutation	SNP	C	C	T	rs181094640		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:25917058C>T	ENST00000265425.3	-	7	805	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	SLC17A2_ENST00000377850.3_Missense_Mutation_p.R262Q|SLC17A2_ENST00000360488.3_Missense_Mutation_p.R262Q			O00624	NPT3_HUMAN	solute carrier family 17, member 2	262					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.R262Q(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GGGGACAGCTCGTCCAGGAGA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		21598	0.001		0.0	False		,,,				2504	0.0				p.R262Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G785A	6						.	C	GLN/ARG	0,4406		0,0,2203	87.0	81.0	83.0		785	4.7	1.0	6		83	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC17A2	NM_005835.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	262/437	25917058	2,13004	2203	4300	6503	26025037	SO:0001583	missense	10246	exon8			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.785G>A	6.37:g.25917058C>T	ENSP00000265425:p.Arg262Gln		26025037	NM_005835	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	3.990	-0.004696	0.07773	0.0	2.33E-4	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.57107	0.42;0.42;0.42	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.160723	0.29602	N	0.011700	T	0.07728	0.0194	N	0.00471	-1.455	0.36363	D	0.860837	B;B;B	0.25521	0.128;0.064;0.1	B;B;B	0.21360	0.032;0.032;0.034	T	0.22695	-1.0209	10	0.09338	T	0.73	.	13.2415	0.59999	0.0:1.0:0.0:0.0	.	262;262;262	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	Q	262	ENSP00000353677:R262Q;ENSP00000367081:R262Q;ENSP00000265425:R262Q	ENSP00000265425:R262Q	R	-	2	0	SLC17A2	26025037	0.990000	0.36364	0.998000	0.56505	0.170000	0.22686	5.234000	0.65343	2.557000	0.86248	0.563000	0.77884	CGA		0.493	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1		
BTN3A3	10384	broad.mit.edu	37	6	26446039	26446039	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:26446039G>A	ENST00000244519.2	+	5	784	c.541G>A	c.(541-543)Gac>Aac	p.D181N	BTN3A3_ENST00000361232.3_Missense_Mutation_p.D139N|BTN3A3_ENST00000339789.4_Missense_Mutation_p.D139N	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	181	Ig-like V-type 2.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.D181N(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AAAGTGGAGCGACACCAAGGG	0.537																																					p.D181N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G541A	6						.						129.0	115.0	119.0					6																	26446039		2203	4300	6503	26554018	SO:0001583	missense	10384	exon5			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.541G>A	6.37:g.26446039G>A	ENSP00000244519:p.Asp181Asn		26554018	NM_006994	B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	G	6.061	0.379514	0.11466	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000496719;ENST00000487272	T;T;T;T;T;T	0.75821	1.18;1.1;2.68;1.09;-0.97;-0.97	3.1	-6.2	0.02072	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36413	0.0966	L	0.39514	1.22	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.15607	-1.0431	9	0.42905	T	0.14	.	6.2578	0.20884	0.2458:0.2666:0.4876:0.0	.	139;181	E9PCP5;O00478	.;BT3A3_HUMAN	N	181;139;139;139;181;139	ENSP00000244519:D181N;ENSP00000344968:D139N;ENSP00000417717:D139N;ENSP00000355238:D139N;ENSP00000420147:D181N;ENSP00000419445:D139N	ENSP00000244519:D181N	D	+	1	0	BTN3A3	26554018	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.760000	0.01806	-1.973000	0.00999	-1.327000	0.01280	GAC		0.537	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994	
BTN1A1	696	broad.mit.edu	37	6	26505164	26505164	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:26505164G>A	ENST00000244513.6	+	3	505	c.439G>A	c.(439-441)Gac>Aac	p.D147N		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	147						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCTGGGCTCTGACCCTCACAT	0.488																																					p.D147N												.	.	0			c.G439A	6						.						59.0	59.0	59.0					6																	26505164		2203	4300	6503	26613143	SO:0001583	missense	696	exon3			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.439G>A	6.37:g.26505164G>A	ENSP00000244513:p.Asp147Asn		26613143	NM_001732	Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861236	0.71949	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.36699	1.24	5.63	4.77	0.60923	Immunoglobulin-like fold (1);	0.102743	0.43260	D	0.000594	T	0.24005	0.0581	M	0.72576	2.205	0.29429	N	0.860013	B	0.33612	0.419	B	0.37267	0.245	T	0.15378	-1.0439	10	0.54805	T	0.06	.	10.617	0.45456	0.0892:0.0:0.9108:0.0	.	147	Q13410	BT1A1_HUMAN	N	147	ENSP00000244513:D147N	ENSP00000244513:D147N	D	+	1	0	BTN1A1	26613143	0.998000	0.40836	0.765000	0.31456	0.901000	0.52897	3.141000	0.50593	1.376000	0.46267	0.655000	0.94253	GAC		0.488	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732	
ABT1	29777	broad.mit.edu	37	6	26598192	26598192	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:26598192A>C	ENST00000274849.1	+	2	323	c.292A>C	c.(292-294)Aag>Cag	p.K98Q		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	98	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.K98Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CGGAGGAAAAAAGCGGTCCTA	0.597																																					p.K98Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A292C	6						.						51.0	48.0	49.0					6																	26598192		2203	4300	6503	26706171	SO:0001583	missense	29777	exon2			AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.292A>C	6.37:g.26598192A>C	ENSP00000274849:p.Lys98Gln		26706171	NM_013375		Missense_Mutation	SNP	ENST00000274849.1	37	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528808	0.64860	.	.	ENSG00000146109	ENST00000274849	.	.	.	5.23	2.74	0.32292	Nucleotide-binding, alpha-beta plait (1);	0.145914	0.64402	D	0.000012	T	0.26557	0.0649	M	0.86268	2.805	0.21147	N	0.999771	P	0.38335	0.627	B	0.36030	0.216	T	0.12218	-1.0556	9	0.48119	T	0.1	-10.9427	6.0933	0.20007	0.7437:0.1665:0.0898:0.0	.	98	Q9ULW3	ABT1_HUMAN	Q	98	.	ENSP00000274849:K98Q	K	+	1	0	ABT1	26706171	0.713000	0.27926	0.989000	0.46669	0.746000	0.42486	2.279000	0.43435	2.124000	0.65301	0.460000	0.39030	AAG		0.597	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1		
VN1R10P	387316	broad.mit.edu	37	6	27293377	27293377	+	IGR	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:27293377A>G								POM121L2 (13428 upstream) : ZNF391 (49016 downstream)																							CTTTTATGGGACTAACGTGTG	0.393																																					p.T106A												.	.	0			c.A316G	6						.						202.0	192.0	195.0					6																	27293377		1867	4106	5973	27401356	SO:0001628	intergenic_variant	83954	exon1																															6.37:g.27293377A>G			27401356	NM_032030		Missense_Mutation	SNP		37																																																																																				0	0.393								
ZNF184	7738	broad.mit.edu	37	6	27420084	27420084	+	Silent	SNP	G	G	A	rs142692089	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:27420084G>A	ENST00000211936.6	-	6	1538	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	ZNF184_ENST00000377419.1_Silent_p.Y418Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y418Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CATTGCATTCGTACGGTTTTT	0.423													G|||	4	0.000798722	0.0	0.0029	5008	,	,		18869	0.0		0.0	False		,,,				2504	0.002				p.Y418Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1254T	6						.	G		0,4406		0,0,2203	86.0	84.0	85.0		1254	-3.2	0.8	6	dbSNP_134	85	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous	ZNF184	NM_007149.2		0,14,6489	AA,AG,GG		0.1628,0.0,0.1076		418/752	27420084	14,12992	2203	4300	6503	27528063	SO:0001819	synonymous_variant	7738	exon6			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1254C>T	6.37:g.27420084G>A			27528063	NM_007149	B2R715|O60792|Q8TBA9	Silent	SNP	ENST00000211936.6	37	CCDS4624.1																																																																																				0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
ZNF184	7738	broad.mit.edu	37	6	27420192	27420192	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:27420192T>G	ENST00000211936.6	-	6	1430	c.1146A>C	c.(1144-1146)aaA>aaC	p.K382N	ZNF184_ENST00000377419.1_Missense_Mutation_p.K382N	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K382N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CAGTATGAATTTTTTGATGTT	0.358																																					p.K382N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1146C	6						.						49.0	51.0	50.0					6																	27420192		2203	4300	6503	27528171	SO:0001583	missense	7738	exon6			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1146A>C	6.37:g.27420192T>G	ENSP00000211936:p.Lys382Asn		27528171	NM_007149	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.97|15.97	2.989034|2.989034	0.53934|0.53934	.|.	.|.	ENSG00000096654|ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087|ENST00000538681	T;T|.	0.24723|.	1.84;1.84|.	5.25|5.25	4.1|4.1	0.47936|0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.52532|.	D|.	0.000065|.	T|T	0.30293|0.30293	0.0760|0.0760	L|L	0.46741|0.46741	1.465|1.465	0.33351|0.33351	D|D	0.571085|0.571085	B|.	0.29909|.	0.261|.	B|.	0.23419|.	0.046|.	T|T	0.33727|0.33727	-0.9857|-0.9857	10|6	0.62326|0.72032	D|D	0.03|0.01	.|.	5.3011|5.3011	0.15778|0.15778	0.0:0.0899:0.1789:0.7311|0.0:0.0899:0.1789:0.7311	.|.	382|.	Q99676|.	ZN184_HUMAN|.	N|H	382|70	ENSP00000211936:K382N;ENSP00000366636:K382N|.	ENSP00000211936:K382N|ENSP00000445231:N70H	K|N	-|-	3|1	2|0	ZNF184|ZNF184	27528171|27528171	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	-0.416000|-0.416000	0.07097|0.07097	1.026000|1.026000	0.39733|0.39733	0.528000|0.528000	0.53228|0.53228	AAA|AAT		0.358	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
ZNF165	7718	broad.mit.edu	37	6	28056965	28056965	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:28056965G>A	ENST00000377325.1	+	4	1731	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	392					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R392Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGACATCGGCGAATTCACACT	0.453																																					p.R392Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1175A	6						.						62.0	68.0	66.0					6																	28056965		2203	4300	6503	28164944	SO:0001583	missense	7718	exon4			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1175G>A	6.37:g.28056965G>A	ENSP00000366542:p.Arg392Gln		28164944	NM_003447		Missense_Mutation	SNP	ENST00000377325.1	37	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526995	0.64860	.	.	ENSG00000197279	ENST00000377325	T	0.24723	1.84	3.04	3.04	0.35103	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22044	0.0531	L	0.52126	1.63	0.09310	N	1	D	0.89917	1.0	P	0.62298	0.9	T	0.11743	-1.0575	9	0.87932	D	0	.	3.8722	0.09041	0.1308:0.0:0.628:0.2412	.	392	P49910	ZN165_HUMAN	Q	392	ENSP00000366542:R392Q	ENSP00000366542:R392Q	R	+	2	0	ZNF165	28164944	0.172000	0.23043	0.988000	0.46212	0.955000	0.61496	2.912000	0.48782	1.728000	0.51552	0.585000	0.79938	CGA		0.453	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447	
PGBD1	84547	broad.mit.edu	37	6	28253404	28253404	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:28253404G>A	ENST00000405948.2	+	3	893	c.473G>A	c.(472-474)aGc>aAc	p.S158N	PGBD1_ENST00000259883.3_Missense_Mutation_p.S158N	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	158						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S158N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGTGTCAGAGCCTCCAGCTC	0.502																																					p.S158N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G473A	6						.						95.0	92.0	93.0					6																	28253404		2203	4300	6503	28361383	SO:0001583	missense	84547	exon3			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.473G>A	6.37:g.28253404G>A	ENSP00000385213:p.Ser158Asn		28361383	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	2.072	-0.412745	0.04799	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01455	4.87;4.87	4.35	-0.541	0.11858	.	.	.	.	.	T	0.00608	0.0020	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43245	-0.9403	9	0.66056	D	0.02	-18.8976	8.1256	0.30997	0.4405:0.0:0.5595:0.0	.	158	Q96JS3	PGBD1_HUMAN	N	158	ENSP00000385213:S158N;ENSP00000259883:S158N	ENSP00000259883:S158N	S	+	2	0	PGBD1	28361383	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.462000	0.06704	-0.247000	0.09597	-0.262000	0.10625	AGC		0.502	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
ZBED9	114821	broad.mit.edu	37	6	28543836	28543836	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:28543836C>A	ENST00000452236.2	-	3	1263	c.646G>T	c.(646-648)Gaa>Taa	p.E216*	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1												p.E216*(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GGTTCAATTTCTGCTTCATTA	0.328																																					p.E216X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G646T	6						.						63.0	67.0	66.0					6																	28543836		2201	4295	6496	28651815	SO:0001587	stop_gained	114821	exon3																														ENST00000452236.2:c.646G>T	6.37:g.28543836C>A	ENSP00000395259:p.Glu216*		28651815	NM_052923		Nonsense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	38	7.221226	0.98143	.	.	ENSG00000232040	ENST00000452236	.	.	.	2.54	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	8.7473	0.34594	0.0:1.0:0.0:0.0	.	.	.	.	X	216	.	ENSP00000395259:E216X	E	-	1	0	SCAND3	28651815	0.915000	0.31059	1.000000	0.80357	0.995000	0.86356	1.053000	0.30442	1.735000	0.51646	0.585000	0.79938	GAA		0.328	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
OR2W1	26692	broad.mit.edu	37	6	29012423	29012423	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:29012423A>C	ENST00000377175.1	-	1	594	c.530T>G	c.(529-531)tTc>tGc	p.F177C		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F177C(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTCACACAAGAAATGATCCAG	0.393																																					p.F177C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T530G	6						.						116.0	113.0	114.0					6																	29012423		1511	2709	4220	29120402	SO:0001583	missense	26692	exon1			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.530T>G	6.37:g.29012423A>C	ENSP00000366380:p.Phe177Cys		29120402	NM_030903	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860213	0.51482	.	.	ENSG00000204704	ENST00000377175	T	0.00344	8.02	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000061	T	0.00608	0.0020	M	0.93594	3.435	0.37423	D	0.913717	D	0.71674	0.998	D	0.67900	0.954	T	0.49293	-0.8955	10	0.87932	D	0	.	13.1476	0.59472	1.0:0.0:0.0:0.0	.	177	Q9Y3N9	OR2W1_HUMAN	C	177	ENSP00000366380:F177C	ENSP00000366380:F177C	F	-	2	0	OR2W1	29120402	0.077000	0.21312	1.000000	0.80357	0.951000	0.60555	1.385000	0.34408	1.766000	0.52107	0.482000	0.46254	TTC		0.393	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2		
OR2W1	26692	broad.mit.edu	37	6	29012623	29012623	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:29012623A>G	ENST00000377175.1	-	1	394	c.330T>C	c.(328-330)gtT>gtC	p.V110V		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V110V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GAAGGCACTCAACTGAGCCCA	0.433																																					p.V110V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T330C	6						.						99.0	77.0	85.0					6																	29012623		1511	2709	4220	29120602	SO:0001819	synonymous_variant	26692	exon1			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.330T>C	6.37:g.29012623A>G			29120602	NM_030903	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	CCDS4656.1																																																																																				0.433	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2		
OR12D2	26529	broad.mit.edu	37	6	29364501	29364501	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:29364501G>A	ENST00000383555.2	+	1	86	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E9K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						CTCAGTCACCGAATTTCTCCT	0.433																																					p.E9K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G25A	6						.						231.0	256.0	247.0					6																	29364501		1511	2709	4220	29472480	SO:0001583	missense	26529	exon1				CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.25G>A	6.37:g.29364501G>A	ENSP00000373047:p.Glu9Lys		29472480	NM_013936	B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	G	7.125	0.578714	0.13686	.	.	ENSG00000168787	ENST00000383555	T	0.01119	5.31	3.74	2.88	0.33553	.	0.097994	0.43919	D	0.000504	T	0.01765	0.0056	M	0.80847	2.515	0.09310	N	1	D	0.69078	0.997	P	0.56343	0.796	T	0.37549	-0.9701	10	0.72032	D	0.01	.	8.7899	0.34843	0.19:0.0:0.81:0.0	.	9	P58182	O12D2_HUMAN	K	9	ENSP00000373047:E9K	ENSP00000373047:E9K	E	+	1	0	OR12D2	29472480	0.001000	0.12720	0.272000	0.24630	0.037000	0.13140	0.585000	0.23879	0.775000	0.33450	-0.495000	0.04643	GAA		0.433	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2		
OR2H1	26716	broad.mit.edu	37	6	29430007	29430007	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:29430007C>T	ENST00000377136.1	+	4	926	c.461C>T	c.(460-462)tCg>tTg	p.S154L	OR2H1_ENST00000377133.1_Missense_Mutation_p.S154L|OR2H1_ENST00000396792.2_Missense_Mutation_p.S154L|OR2H1_ENST00000377132.1_Missense_Mutation_p.S154L|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.S154L			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S154L(1)		large_intestine(5)|lung(12)	17						CTGGTTCAATCGATAGTCCAG	0.557																																					p.S154L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C461T	6						.						195.0	199.0	197.0					6																	29430007		1511	2709	4220	29537986	SO:0001583	missense	26716	exon3			AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.461C>T	6.37:g.29430007C>T	ENSP00000366340:p.Ser154Leu		29537986	NM_030883	B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221403	0.22457	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00372	7.73;7.73;7.73;7.73;7.73	2.81	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33753	N	0.004599	T	0.00356	0.0011	M	0.89968	3.075	0.09310	N	1	D	0.60160	0.987	P	0.54499	0.754	T	0.36261	-0.9755	10	0.87932	D	0	.	9.2489	0.37543	0.0:0.8838:0.0:0.1162	.	154	Q9GZK4	OR2H1_HUMAN	L	154	ENSP00000366340:S154L;ENSP00000366337:S154L;ENSP00000393254:S154L;ENSP00000366336:S154L;ENSP00000380010:S154L	ENSP00000366336:S154L	S	+	2	0	OR2H1	29537986	0.053000	0.20554	0.003000	0.11579	0.000000	0.00434	0.878000	0.28126	0.754000	0.32968	-0.199000	0.12753	TCG		0.557	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3		
MOG	4340	broad.mit.edu	37	6	29627429	29627429	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:29627429A>C	ENST00000376917.3	+	2	651	c.422A>C	c.(421-423)gAa>gCa	p.E141A	MOG_ENST00000494692.1_Missense_Mutation_p.E141A|MOG_ENST00000490427.1_Intron|MOG_ENST00000396701.2_Missense_Mutation_p.E141A|MOG_ENST00000416766.2_Missense_Mutation_p.E141A|MOG_ENST00000396704.3_Missense_Mutation_p.E141A|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Missense_Mutation_p.E141A|MOG_ENST00000376894.4_Missense_Mutation_p.E141A|MOG_ENST00000376898.3_Missense_Mutation_p.E141A|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Missense_Mutation_p.E141A|MOG_ENST00000376902.3_Missense_Mutation_p.E141A|MOG_ENST00000533330.2_Missense_Mutation_p.E141A|MOG_ENST00000483013.1_Intron	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	141	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E141A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GCAGCAATGGAATTGAAAGTA	0.438																																					p.E141A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A422C	6						.						34.0	36.0	36.0					6																	29627429		1510	2708	4218	29735408	SO:0001583	missense	4340	exon2				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.422A>C	6.37:g.29627429A>C	ENSP00000366115:p.Glu141Ala		29735408	NM_001008229	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479611	0.44044	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.72	5.72	0.89469	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.099652	0.43747	D	0.000534	T	0.23210	0.0561	M	0.80422	2.495	0.24812	N	0.99264	B;B;B;B;B;B;B;B;B;B;B	0.29531	0.005;0.004;0.012;0.007;0.008;0.002;0.002;0.01;0.003;0.247;0.002	B;B;B;B;B;B;B;B;B;B;B	0.27076	0.019;0.009;0.008;0.007;0.021;0.005;0.008;0.018;0.008;0.076;0.029	T	0.16158	-1.0412	10	0.72032	D	0.01	.	13.9433	0.64069	1.0:0.0:0.0:0.0	.	71;141;141;141;141;141;141;141;141;141;141	B7Z2X8;C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;.;MOG_HUMAN;.;.;.	A	141	ENSP00000366115:E141A;ENSP00000366100:E141A;ENSP00000431709:E141A;ENSP00000366091:E141A;ENSP00000409394:E141A;ENSP00000366088:E141A;ENSP00000366095:E141A;ENSP00000410866:E141A;ENSP00000379929:E141A;ENSP00000417405:E141A;ENSP00000379932:E141A	ENSP00000366088:E141A	E	+	2	0	MOG	29735408	0.998000	0.40836	0.081000	0.20488	0.949000	0.60115	4.433000	0.59929	2.183000	0.69458	0.533000	0.62120	GAA		0.438	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	
TRIM10	10107	broad.mit.edu	37	6	30126365	30126365	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:30126365G>A	ENST00000449742.2	-	3	642	c.567C>T	c.(565-567)ttC>ttT	p.F189F	TRIM10_ENST00000376704.3_Silent_p.F189F	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	189					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.F189F(1)		ovary(1)	1						TCAGGTGTGCGAACTCAGAAA	0.517																																					p.F189F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C567T	6						.						257.0	278.0	270.0					6																	30126365		1511	2709	4220	30234344	SO:0001819	synonymous_variant	10107	exon3			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.567C>T	6.37:g.30126365G>A			30234344	NM_006778	A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	ENST00000449742.2	37	CCDS34375.1																																																																																				0.517	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
TRIM26	7726	broad.mit.edu	37	6	30164371	30164371	+	Silent	SNP	G	G	A	rs150251570		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:30164371G>A	ENST00000454678.2	-	6	1123	c.687C>T	c.(685-687)gtC>gtT	p.V229V	TRIM26_ENST00000437089.1_Silent_p.V229V|TRIM26_ENST00000453195.1_Silent_p.V229V|TRIM26_ENST00000487829.1_5'Flank	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	229					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.V229V(1)		lung(1)|ovary(2)	3						CAAGCTCCCCGACGCCCCGGC	0.662													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15801	0.0		0.0	False		,,,				2504	0.0				p.V229V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C687T	6						.	G	,	5,4401	9.9+/-24.2	0,5,2198	37.0	40.0	39.0		687,687	-2.1	0.0	6	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRIM26	NM_001242783.1,NM_003449.4	,	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	,	229/540,229/540	30164371	6,13000	2203	4300	6503	30272350	SO:0001819	synonymous_variant	7726	exon6			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.687C>T	6.37:g.30164371G>A			30272350	NM_003449	A6NG96|Q5SRL2	Silent	SNP	ENST00000454678.2	37	CCDS4678.1																																																																																				0.662	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449	
ABCF1	23	broad.mit.edu	37	6	30553368	30553368	+	Silent	SNP	C	C	T	rs376861258		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:30553368C>T	ENST00000326195.8	+	16	1621	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.I465I|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	503	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.I503I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CCTTGCTGATCGTCTCCCATG	0.527																																					p.I503I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1509T	6						.						135.0	130.0	132.0					6																	30553368		1511	2709	4220	30661347	SO:0001819	synonymous_variant	23	exon16			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1509C>T	6.37:g.30553368C>T			30661347	NM_001025091	A2BF75|O14897|Q69YP6	Silent	SNP	ENST00000326195.8	37	CCDS34380.1																																																																																				0.527	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3		
DHX16	8449	broad.mit.edu	37	6	30638221	30638221	+	Missense_Mutation	SNP	C	C	T	rs200028840		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:30638221C>T	ENST00000376442.3	-	4	827	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	211					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R211H(1)		kidney(2)|ovary(2)	4						CATCTTGAGGCGCTTCTGAGC	0.517																																					p.R211H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G632A	6						.						33.0	32.0	32.0					6																	30638221		1507	2707	4214	30746200	SO:0001583	missense	8449	exon4			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.632G>A	6.37:g.30638221C>T	ENSP00000365625:p.Arg211His		30746200	NM_003587	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622872	0.87460	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.52754	0.65;0.65	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.63488	0.911;0.915	T	0.73180	-0.4064	10	0.72032	D	0.01	.	17.0904	0.86620	0.0:1.0:0.0:0.0	.	151;211	B4DZ28;O60231	.;DHX16_HUMAN	H	211;151	ENSP00000365625:R211H;ENSP00000399101:R151H	ENSP00000365625:R211H	R	-	2	0	DHX16	30746200	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.793000	0.62474	2.560000	0.86352	0.455000	0.32223	CGC		0.517	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587	
MDC1	9656	broad.mit.edu	37	6	30675778	30675778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:30675778C>A	ENST00000376406.3	-	8	3225	c.2578G>T	c.(2578-2580)Gaa>Taa	p.E860*	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	860				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)	p.E860*(1)		breast(2)|kidney(1)|ovary(1)	4						TGTTTTTGTTCTCTGTCCTGT	0.443								Other conserved DNA damage response genes																													p.E860X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2578T	6						.						281.0	324.0	309.0					6																	30675778		1511	2709	4220	30783757	SO:0001587	stop_gained	9656	exon8			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.2578G>T	6.37:g.30675778C>A	ENSP00000365588:p.Glu860*		30783757	NM_014641	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	c	47	13.619997	0.99753	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	.	.	.	4.75	2.95	0.34219	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-4.2553	4.9081	0.13807	0.0:0.6307:0.1777:0.1915	.	.	.	.	X	860	.	ENSP00000365588:E860X	E	-	1	0	MDC1	30783757	0.000000	0.05858	0.016000	0.15963	0.928000	0.56348	0.276000	0.18716	0.413000	0.25759	0.457000	0.33378	GAA		0.443	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
PSORS1C2	170680	broad.mit.edu	37	6	31106009	31106009	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:31106009G>A	ENST00000259845.4	-	2	453	c.130C>T	c.(130-132)Cct>Tct	p.P44S	PSORS1C1_ENST00000481450.2_5'Flank|PSORS1C1_ENST00000547221.1_Intron|PSORS1C1_ENST00000259881.9_Intron	NM_014069.2	NP_054788.2	Q9UIG4	PS1C2_HUMAN	psoriasis susceptibility 1 candidate 2	44						extracellular region (GO:0005576)		p.P44S(1)		NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGGCCCTGAGGCAATGTTGGG	0.657																																					p.P44S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C130T	6						.						13.0	15.0	14.0					6																	31106009		1503	2703	4206	31213988	SO:0001583	missense	170680	exon2			AB031480	CCDS4694.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204538	ENSG00000204538			17199	protein-coding gene	gene with protein product		613526	"""chromosome 6 open reading frame 17"""	C6orf17			Standard	NM_014069		Approved	SPR1	uc003nso.4	Q9UIG4	OTTHUMG00000031081	ENST00000259845.4:c.130C>T	6.37:g.31106009G>A	ENSP00000259845:p.Pro44Ser		31213988	NM_014069	Q5STD0	Missense_Mutation	SNP	ENST00000259845.4	37	CCDS4694.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483796	0.63962	.	.	ENSG00000204538	ENST00000259845	T	0.35605	1.3	4.43	4.43	0.53597	.	0.000000	0.44483	D	0.000445	T	0.37156	0.0993	L	0.34521	1.04	0.33890	D	0.637221	D	0.89917	1.0	D	0.83275	0.996	T	0.36672	-0.9738	10	0.87932	D	0	-4.1048	12.3702	0.55250	0.0:0.0:1.0:0.0	.	44	Q9UIG4	PS1C2_HUMAN	S	44	ENSP00000259845:P44S	ENSP00000259845:P44S	P	-	1	0	PSORS1C2	31213988	1.000000	0.71417	0.945000	0.38365	0.471000	0.32888	4.208000	0.58486	2.302000	0.77476	0.471000	0.43371	CCT		0.657	PSORS1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076115.3		
CCHCR1	54535	broad.mit.edu	37	6	31118887	31118887	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:31118887T>C	ENST00000376266.5	-	5	669	c.547A>G	c.(547-549)Aca>Gca	p.T183A	CCHCR1_ENST00000396263.2_Missense_Mutation_p.T183A|CCHCR1_ENST00000396268.3_Missense_Mutation_p.T272A|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Missense_Mutation_p.T236A	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	183					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T272A(1)|p.T183A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TGAGCCTGTGTCAAAGAGGAC	0.557																																					p.T236A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A706G	6						.						135.0	152.0	146.0					6																	31118887		1508	2709	4217	31226866	SO:0001583	missense	54535	exon5			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.547A>G	6.37:g.31118887T>C	ENSP00000365442:p.Thr183Ala		31226866	NM_001105563	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	t	10.33	1.320491	0.23994	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162	T;T;T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49;3.49;3.49	4.55	4.55	0.56014	.	0.716371	0.13156	N	0.409441	T	0.05456	0.0144	M	0.72118	2.19	0.09310	N	1	P;P;P;P;P	0.42456	0.78;0.625;0.78;0.78;0.739	P;B;B;B;B	0.45138	0.471;0.252;0.415;0.415;0.34	T	0.27226	-1.0080	10	0.37606	T	0.19	-0.0082	10.3874	0.44148	0.0:0.0:0.0:1.0	.	183;183;183;236;272	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	A	272;183;183;183;236;147;147;183	ENSP00000379566:T272A;ENSP00000365442:T183A;ENSP00000379561:T183A;ENSP00000401039:T236A;ENSP00000414323:T147A;ENSP00000421393:T147A;ENSP00000390027:T183A	ENSP00000365442:T183A	T	-	1	0	CCHCR1	31226866	0.961000	0.32948	0.600000	0.28864	0.436000	0.31835	2.240000	0.43088	1.728000	0.51552	0.228000	0.17796	ACA		0.557	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	
ATP6V1G2	534	broad.mit.edu	37	6	31513927	31513927	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:31513927G>A	ENST00000303892.5	-	2	426	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	NFKBIL1_ENST00000376145.4_5'Flank|NFKBIL1_ENST00000376148.4_5'Flank|ATP6V1G2_ENST00000376151.4_Intron|ATP6V1G2_ENST00000483251.1_Missense_Mutation_p.R7C|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR|ATP6V1G2-DDX39B_ENST00000376185.1_Missense_Mutation_p.R48C|ATP6V1G2_ENST00000483170.1_5'UTR	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2	48					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.R48C(1)		breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						CGCTCTCTGCGGTATTGCTCC	0.592																																					p.R7C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19T	6						.						272.0	196.0	222.0					6																	31513927		2203	4300	6503	31621906	SO:0001583	missense	534	exon2			Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618	ENST00000303892.5:c.142C>T	6.37:g.31513927G>A	ENSP00000302194:p.Arg48Cys		31621906	NM_138282	B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Missense_Mutation	SNP	ENST00000303892.5	37	CCDS4698.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037436	0.93630	.	.	ENSG00000254870;ENSG00000213760;ENSG00000213760;ENSG00000213760;ENSG00000213760	ENST00000475917;ENST00000459671;ENST00000303892;ENST00000483251;ENST00000415099	T;T;T	0.58797	0.31;0.31;0.31	5.76	5.76	0.90799	.	0.000000	0.64402	U	0.000002	T	0.55529	0.1926	M	0.79475	2.455	0.58432	D	0.999999	P	0.39157	0.662	B	0.40444	0.329	T	0.64153	-0.6474	10	0.72032	D	0.01	-6.3311	17.4534	0.87599	0.0:0.0:1.0:0.0	.	48	O95670	VATG2_HUMAN	C	48;48;48;7;88	ENSP00000302194:R48C;ENSP00000419698:R7C;ENSP00000390148:R88C	ENSP00000302194:R48C	R	-	1	0	ATP6V1G2-DDX39B;ATP6V1G2	31621906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.959000	0.76031	2.726000	0.93360	0.655000	0.94253	CGC		0.592	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3	NM_130463	
C2	717	broad.mit.edu	37	6	31902013	31902013	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:31902013G>A	ENST00000299367.5	+	6	1062	c.786G>A	c.(784-786)tcG>tcA	p.S262S	C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Silent_p.S130S|C2_ENST00000418949.2_Silent_p.S262S|CFB_ENST00000556679.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000456570.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	262	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S262S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGGACTGTTCGCAGAGTGTGT	0.537																																					p.S130S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G390A	6						.						167.0	161.0	163.0					6																	31902013		2203	4300	6503	32009992	SO:0001819	synonymous_variant	717	exon4				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.786G>A	6.37:g.31902013G>A			32009992	NM_001145903	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Silent	SNP	ENST00000299367.5	37	CCDS4728.1																																																																																				0.537	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		
STK19	8859	broad.mit.edu	37	6	31948550	31948550	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:31948550G>A	ENST00000375333.2	+	7	1086	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	C4A_ENST00000498271.1_5'Flank|C4A_ENST00000537134.1_5'Flank|C4A_ENST00000428956.2_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.D341N	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	345					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D345N(1)		skin(5)|upper_aerodigestive_tract(2)	7						CCATGTGCACGACCTCATTGG	0.602																																					p.D341N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1021A	6						.						17.0	20.0	19.0					6																	31948550		1498	2701	4199	32056529	SO:0001583	missense	8859	exon7			X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.1033G>A	6.37:g.31948550G>A	ENSP00000364482:p.Asp345Asn		32056529	NM_004197	A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051064	0.93740	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.43294	0.95;0.95	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;0.999	T	0.64508	-0.6391	10	0.87932	D	0	-19.5621	16.4557	0.84012	0.0:0.0:1.0:0.0	.	298;341;345;298	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	N	341;345	ENSP00000364480:D341N;ENSP00000364482:D345N	ENSP00000364480:D341N	D	+	1	0	STK19	32056529	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.935000	0.87658	2.423000	0.82170	0.555000	0.69702	GAC		0.602	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3		
TNXB	7148	broad.mit.edu	37	6	32017225	32017225	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:32017225G>A	ENST00000375244.3	-	28	9780	c.9579C>T	c.(9577-9579)ttC>ttT	p.F3193F	TNXB_ENST00000375247.2_Silent_p.F3191F			P22105	TENX_HUMAN	tenascin XB	3238	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.F3258F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGAAGGAGTCGAAGCGGCCCT	0.701																																					p.F3191F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C9573T	6						.						67.0	73.0	71.0					6																	32017225		1271	2531	3802	32125203	SO:0001819	synonymous_variant	7148	exon28			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9579C>T	6.37:g.32017225G>A			32125203	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.701	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
TNXB	7148	broad.mit.edu	37	6	32056757	32056757	+	Missense_Mutation	SNP	G	G	A	rs570806090		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:32056757G>A	ENST00000375244.3	-	6	2785	c.2584C>T	c.(2584-2586)Cgt>Tgt	p.R862C	TNXB_ENST00000375247.2_Missense_Mutation_p.R862C			P22105	TENX_HUMAN	tenascin XB	814	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R814C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTGGGGACGCAGCCAGCCA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17501	0.0		0.0	False		,,,				2504	0.001				p.R862C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2584T	6						.						32.0	37.0	35.0					6																	32056757		2145	4241	6386	32164735	SO:0001583	missense	7148	exon6			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2584C>T	6.37:g.32056757G>A	ENSP00000364393:p.Arg862Cys		32164735	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	17.50	3.404056	0.62288	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57907	0.37;0.37	5.42	5.42	0.78866	.	0.000000	0.49916	D	0.000131	T	0.62636	0.2444	M	0.62723	1.935	0.21220	N	0.99975	D	0.89917	1.0	D	0.91635	0.999	T	0.59526	-0.7438	10	0.72032	D	0.01	.	16.6972	0.85339	0.0:0.0:1.0:0.0	.	862	P22105-3	.	C	862	ENSP00000364393:R862C;ENSP00000364396:R862C	ENSP00000364393:R862C	R	-	1	0	TNXB	32164735	0.837000	0.29446	0.998000	0.56505	0.778000	0.44026	2.767000	0.47637	2.556000	0.86216	0.462000	0.41574	CGT		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
C6orf10	10665	broad.mit.edu	37	6	32307414	32307414	+	Splice_Site	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:32307414A>G	ENST00000447241.2	-	10	523	c.351T>C	c.(349-351)ggT>ggC	p.G117G	C6orf10_ENST00000442822.2_Splice_Site_p.S94S|C6orf10_ENST00000527965.1_Splice_Site_p.S94S|C6orf10_ENST00000375007.4_Splice_Site_p.G115G|C6orf10_ENST00000375015.4_Splice_Site_p.S101S|C6orf10_ENST00000533191.1_Splice_Site_p.S101S	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	117						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G117G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATTTTATACTACCTATAATAA	0.338																																					p.G117G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T351C	6						.						118.0	143.0	134.0					6																	32307414		1510	2709	4219	32415392	SO:0001630	splice_region_variant	10665	exon10			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.350-1T>C	6.37:g.32307414A>G			32415392	NM_006781	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	ENST00000447241.2	37	CCDS34422.1																																																																																				0.338	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781	Silent
C6orf10	10665	broad.mit.edu	37	6	32317559	32317559	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:32317559G>T	ENST00000447241.2	-	9	479	c.307C>A	c.(307-309)Ctt>Att	p.L103I	C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000527965.1_Intron|C6orf10_ENST00000375007.4_Missense_Mutation_p.L101I|C6orf10_ENST00000375015.4_Intron|C6orf10_ENST00000533191.1_Intron	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	103						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L103I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CACATCAAAAGAAGAATGAGT	0.363																																					p.L103I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307A	6						.						151.0	144.0	147.0					6																	32317559		1511	2709	4220	32425537	SO:0001583	missense	10665	exon9			U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.307C>A	6.37:g.32317559G>T	ENSP00000415517:p.Leu103Ile		32425537	NM_006781	A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080528	0.36662	.	.	ENSG00000204296	ENST00000447241;ENST00000375007;ENST00000534588	T;T;T	0.05717	3.4;3.4;3.4	3.65	-0.254	0.12992	.	.	.	.	.	T	0.01029	0.0034	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48433	-0.9036	8	.	.	.	.	2.8511	0.05558	0.174:0.3836:0.3407:0.1017	.	103	Q5SRN2	CF010_HUMAN	I	103;101;103	ENSP00000415517:L103I;ENSP00000364146:L101I;ENSP00000432566:L103I	.	L	-	1	0	C6orf10	32425537	0.011000	0.17503	0.122000	0.21767	0.781000	0.44180	-0.742000	0.04850	-0.069000	0.12931	-0.134000	0.14843	CTT		0.363	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781	
TAP1	6890	broad.mit.edu	37	6	32818213	32818213	+	Nonsense_Mutation	SNP	G	G	A	rs143800384		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:32818213G>A	ENST00000354258.4	-	5	1473	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	TAP1_ENST00000425148.2_Nonsense_Mutation_p.R177*|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	438	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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 peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.R438*(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GCAAAGCTTCGAACTGTAGGC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		20485	0.0		0.0	False		,,,				2504	0.001				p.R438X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1312T	6	GRCh37	CM066242	TAP1	M	rs143800384	.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	91.0	90.0		1312	3.7	1.0	6	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	TAP1	NM_000593.5		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		438/809	32818213	3,13003	2203	4300	6503	32926191	SO:0001587	stop_gained	6890	exon5				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1312C>T	6.37:g.32818213G>A	ENSP00000346206:p.Arg438*		32926191	NM_000593	Q16149|Q96CP4	Nonsense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	40	8.369631	0.98781	2.27E-4	2.33E-4	ENSG00000168394	ENST00000354258;ENST00000425148	.	.	.	5.72	3.73	0.42828	.	0.329018	0.21658	N	0.071066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5546	12.5898	0.56437	0.0:0.0:0.6139:0.3861	.	.	.	.	X	438;177	.	ENSP00000346206:R438X	R	-	1	2	TAP1	32926191	1.000000	0.71417	0.959000	0.39883	0.901000	0.52897	3.935000	0.56560	1.401000	0.46761	0.643000	0.83706	CGA		0.532	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
HLA-DMA	3108	broad.mit.edu	37	6	32918419	32918419	+	Missense_Mutation	SNP	C	C	T	rs148138044		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:32918419C>T	ENST00000374843.4	-	2	335	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	HLA-DMA_ENST00000395305.3_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000464392.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.E84K	NM_006120.3	NP_006111.2	P28067	DMA_HUMAN	major histocompatibility complex, class II, DM alpha	84	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|chaperone mediated protein folding requiring cofactor (GO:0051085)|immunoglobulin mediated immune response (GO:0016064)|inner ear development (GO:0048839)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of immune response (GO:0050778)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein transport (GO:0015031)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)	MHC class II protein complex binding (GO:0023026)	p.E84K(2)		kidney(1)|large_intestine(2)|lung(8)	11						TCAGCAAATTCGGGCAGGCGA	0.532																																					p.E84K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G250A	6						.	C	LYS/GLU	1,3019		0,1,1509	90.0	102.0	98.0		250	5.5	1.0	6	dbSNP_134	98	0,5416		0,0,2708	no	missense	HLA-DMA	NM_006120.3	56	0,1,4217	TT,TC,CC		0.0,0.0331,0.0119	benign	84/262	32918419	1,8435	1510	2708	4218	33026397	SO:0001583	missense	3108	exon2				CCDS4761.1	6p21.3	2013-01-11			ENSG00000204257	ENSG00000204257		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4934	protein-coding gene	gene with protein product		142855				1922385	Standard	NM_006120		Approved	D6S222E, RING6	uc003ocm.2	P28067	OTTHUMG00000031173	ENST00000374843.4:c.250G>A	6.37:g.32918419C>T	ENSP00000363976:p.Glu84Lys		33026397	NM_006120	Q29639|Q29640	Missense_Mutation	SNP	ENST00000374843.4	37	CCDS4761.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665185	0.88251	3.31E-4	0.0	ENSG00000204257	ENST00000395303;ENST00000374843;ENST00000456800;ENST00000422832;ENST00000341486	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.53	5.53	0.82687	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.568036	0.18257	N	0.146776	T	0.32793	0.0841	L	0.46157	1.445	0.35365	D	0.788566	D;D	0.54964	0.969;0.969	P;P	0.50270	0.636;0.636	T	0.14980	-1.0453	10	0.66056	D	0.02	.	14.8363	0.70187	0.0:1.0:0.0:0.0	.	84;84	P28067;Q31604	DMA_HUMAN;.	K	84;84;114;51;76	ENSP00000378714:E84K;ENSP00000363976:E84K;ENSP00000409668:E114K;ENSP00000403122:E51K	ENSP00000345804:E76K	E	-	1	0	HLA-DMA	33026397	0.940000	0.31905	0.995000	0.50966	0.912000	0.54170	2.187000	0.42602	2.885000	0.99019	0.643000	0.83706	GAA		0.532	HLA-DMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076325.2	NM_006120	
VPS52	6293	broad.mit.edu	37	6	33234351	33234351	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:33234351T>C	ENST00000445902.2	-	12	1482	c.1264A>G	c.(1264-1266)Aca>Gca	p.T422A	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.T297A	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	422					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.T422A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATGCTGAGTGTACGGCCCATG	0.502																																					p.T422A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1264G	6						.						134.0	111.0	120.0					6																	33234351		1511	2709	4220	33342329	SO:0001583	missense	6293	exon12			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1264A>G	6.37:g.33234351T>C	ENSP00000409952:p.Thr422Ala		33342329	NM_022553	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673442	0.47781	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.4	4.4	0.53042	.	0.056035	0.64402	D	0.000001	T	0.35740	0.0942	L	0.57536	1.79	0.50467	D	0.999877	B;B	0.32526	0.374;0.181	B;B	0.32090	0.14;0.134	T	0.25950	-1.0117	9	0.20519	T	0.43	-12.4769	11.9154	0.52763	0.0:0.0:0.0:1.0	.	233;422	B3KMF7;Q8N1B4	.;VPS52_HUMAN	A	422;400;297	.	ENSP00000414785:T400A	T	-	1	0	VPS52	33342329	1.000000	0.71417	0.042000	0.18584	0.976000	0.68499	6.267000	0.72546	1.978000	0.57642	0.445000	0.29226	ACA		0.502	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	
VPS52	6293	broad.mit.edu	37	6	33236864	33236864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:33236864G>A	ENST00000445902.2	-	6	693	c.475C>T	c.(475-477)Cga>Tga	p.R159*	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|RPS18_ENST00000439602.2_5'Flank|RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000436044.2_Nonsense_Mutation_p.R34*	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	159					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.R159*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGGCGATTTCGAAGTCGAATG	0.517																																					p.R159X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C475T	6						.						229.0	215.0	220.0					6																	33236864		1511	2709	4220	33344842	SO:0001587	stop_gained	6293	exon6			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.475C>T	6.37:g.33236864G>A	ENSP00000409952:p.Arg159*		33344842	NM_022553	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Nonsense_Mutation	SNP	ENST00000445902.2	37	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	38	6.962425	0.97967	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.86	3.97	0.46021	.	0.060001	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-5.0307	10.3681	0.44038	0.0:0.0:0.6439:0.3561	.	.	.	.	X	159;137;34	.	ENSP00000414785:R137X	R	-	1	2	VPS52	33344842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.011000	0.49567	1.382000	0.46385	0.471000	0.43371	CGA		0.517	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	
ITPR3	3710	broad.mit.edu	37	6	33645293	33645293	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:33645293C>T	ENST00000374316.5	+	29	4595	c.3535C>T	c.(3535-3537)Ctg>Ttg	p.L1179L	ITPR3_ENST00000605930.1_Silent_p.L1179L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1179					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.L1179L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTGGAAAGGCTGAACAAGAT	0.597																																					p.L1179L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3535T	6						.						68.0	65.0	66.0					6																	33645293		2203	4300	6503	33753271	SO:0001819	synonymous_variant	3710	exon28			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3535C>T	6.37:g.33645293C>T			33753271	NM_002224	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
UHRF1BP1	54887	broad.mit.edu	37	6	34831938	34831938	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:34831938T>C	ENST00000192788.5	+	15	3546	c.3375T>C	c.(3373-3375)agT>agC	p.S1125S	UHRF1BP1_ENST00000452449.2_Silent_p.S1125S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1125							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.S1125S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CAGTGGACAGTGATGGCAGTG	0.498																																					p.S1125S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T3375C	6						.						150.0	154.0	152.0					6																	34831938		2076	4219	6295	34939916	SO:0001819	synonymous_variant	54887	exon15			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3375T>C	6.37:g.34831938T>C			34939916	NM_017754	Q9NXE0	Silent	SNP	ENST00000192788.5	37	CCDS43455.1																																																																																				0.498	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
SCUBE3	222663	broad.mit.edu	37	6	35207612	35207612	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:35207612A>C	ENST00000274938.7	+	8	913	c.913A>C	c.(913-915)Aaa>Caa	p.K305Q	SCUBE3_ENST00000394681.1_Missense_Mutation_p.K321Q	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.K305Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAGTTGCAAGAAAGGCTATAA	0.498																																					p.K305Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A913C	6						.						82.0	74.0	77.0					6																	35207612		2203	4300	6503	35315590	SO:0001583	missense	222663	exon8			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.913A>C	6.37:g.35207612A>C	ENSP00000274938:p.Lys305Gln		35315590	NM_152753		Missense_Mutation	SNP	ENST00000274938.7	37	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902838	0.92035	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.95980	-3.87;-3.87	5.66	5.66	0.87406	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	N	0.04297	-0.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.94584	0.7782	10	0.40728	T	0.16	.	15.8982	0.79350	1.0:0.0:0.0:0.0	.	321;305	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	Q	321;305	ENSP00000378174:K321Q;ENSP00000274938:K305Q	ENSP00000274938:K305Q	K	+	1	0	SCUBE3	35315590	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.140000	0.66376	0.533000	0.62120	AAA		0.498	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
SCUBE3	222663	broad.mit.edu	37	6	35210953	35210953	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:35210953G>A	ENST00000274938.7	+	15	1849	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K	SCUBE3_ENST00000394681.1_Missense_Mutation_p.E633K	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.E617K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GGTAGCCGGGGAGCGAGCAGA	0.622																																					p.E617K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1849A	6						.						42.0	51.0	48.0					6																	35210953		2203	4300	6503	35318931	SO:0001583	missense	222663	exon15			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1849G>A	6.37:g.35210953G>A	ENSP00000274938:p.Glu617Lys		35318931	NM_152753		Missense_Mutation	SNP	ENST00000274938.7	37	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	3.443	-0.113671	0.06881	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.81996	-1.13;-1.56	5.08	5.08	0.68730	.	0.280864	0.40818	N	0.001016	T	0.35653	0.0939	N	0.02539	-0.55	0.30572	N	0.763419	B;B	0.27068	0.167;0.104	B;B	0.27380	0.079;0.036	T	0.25813	-1.0121	10	0.02654	T	1	.	9.3002	0.37840	0.0815:0.1589:0.7596:0.0	.	633;617	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	K	633;617	ENSP00000378174:E633K;ENSP00000274938:E617K	ENSP00000274938:E617K	E	+	1	0	SCUBE3	35318931	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.451000	0.44952	2.375000	0.81037	0.650000	0.86243	GAG		0.622	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
SRPK1	6732	broad.mit.edu	37	6	35803116	35803116	+	Missense_Mutation	SNP	C	C	T	rs376455081	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:35803116C>T	ENST00000373825.2	-	16	2218	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SRPK1_ENST00000373822.1_Missense_Mutation_p.A537T|SRPK1_ENST00000423325.2_Missense_Mutation_p.A629T					SRSF protein kinase 1									p.A644T(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AGACACTCGGCGGCAGTGGCT	0.562													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17139	0.001		0.0	False		,,,				2504	0.0				p.A645T	NSCLC(31;67 978 16289 24856 26454)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1933A	6						.						46.0	54.0	52.0					6																	35803116		2030	4193	6223	35911094	SO:0001583	missense	6732	exon16			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1933G>A	6.37:g.35803116C>T	ENSP00000362931:p.Ala645Thr		35911094	NM_003137		Missense_Mutation	SNP	ENST00000373825.2	37	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924946	0.34002	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.64	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.35998	0.0951	N	0.26162	0.8	0.80722	D	1	B;D	0.67145	0.276;0.996	B;P	0.45681	0.069;0.49	T	0.36915	-0.9728	9	0.46703	T	0.11	-4.3293	8.4189	0.32687	0.2633:0.6658:0.0:0.0709	.	629;645	B4DS61;Q96SB4	.;SRPK1_HUMAN	T	645;661;629;537	ENSP00000362931:A645T;ENSP00000354674:A661T;ENSP00000391069:A629T;ENSP00000362928:A537T	ENSP00000354674:A661T	A	-	1	0	SRPK1	35911094	0.977000	0.34250	0.576000	0.28549	0.904000	0.53231	2.481000	0.45215	1.389000	0.46526	-0.123000	0.14984	GCC		0.562	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
MAPK14	1432	broad.mit.edu	37	6	36040747	36040747	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:36040747C>A	ENST00000229794.4	+	4	791	c.403C>A	c.(403-405)Ctc>Atc	p.L135I	MAPK14_ENST00000310795.4_Missense_Mutation_p.L135I|MAPK14_ENST00000468133.1_Missense_Mutation_p.L58I|MAPK14_ENST00000229795.3_Missense_Mutation_p.L135I	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.L135I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						CTACCAAATTCTCCGAGGTCT	0.378																																					p.L135I	Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403A	6						.						86.0	82.0	83.0					6																	36040747		2203	4300	6503	36148725	SO:0001583	missense	1432	exon4			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.403C>A	6.37:g.36040747C>A	ENSP00000229794:p.Leu135Ile		36148725	NM_001315	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391673	0.95988	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133;ENST00000310795;ENST00000472333	T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D	0.76494	0.993;0.998;0.999;0.994;0.984	D;D;D;D;D	0.91635	0.966;0.986;0.999;0.989;0.974	T	0.16364	-1.0405	10	0.87932	D	0	-5.1264	20.4561	0.99145	0.0:1.0:0.0:0.0	.	135;135;135;135;135	B5TY32;Q16539-4;Q16539;Q16539-2;Q16539-3	.;.;MK14_HUMAN;.;.	I	135;135;58;135;58	ENSP00000229795:L135I;ENSP00000229794:L135I;ENSP00000419837:L58I;ENSP00000308669:L135I;ENSP00000419141:L58I	ENSP00000229794:L135I	L	+	1	0	MAPK14	36148725	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.067000	0.71193	2.843000	0.97960	0.650000	0.86243	CTC		0.378	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	
C6orf222	389384	broad.mit.edu	37	6	36297986	36297986	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:36297986T>C	ENST00000437635.2	-	2	659	c.482A>G	c.(481-483)cAc>cGc	p.H161R		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	161								p.H161R(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GTGTTTCTTGTGACCTTGCTT	0.632																																					p.H161R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A482G	6						.						90.0	67.0	75.0					6																	36297986		2203	4300	6503	36405964	SO:0001583	missense	389384	exon2				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.482A>G	6.37:g.36297986T>C	ENSP00000418983:p.His161Arg		36405964	NM_001010903	B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	T	11.60	1.686033	0.29962	.	.	ENSG00000189325	ENST00000437635	T	0.62788	0.0	3.98	2.81	0.32909	.	0.575949	0.14498	N	0.315909	T	0.39963	0.1098	M	0.62723	1.935	0.09310	N	1	P	0.49635	0.926	B	0.44278	0.445	T	0.12553	-1.0543	10	0.27785	T	0.31	-9.6502	7.3166	0.26503	0.0:0.0:0.2576:0.7424	.	161	P0C671	CF222_HUMAN	R	161	ENSP00000418983:H161R	ENSP00000418983:H161R	H	-	2	0	C6orf222	36405964	0.005000	0.15991	0.010000	0.14722	0.250000	0.25880	1.145000	0.31577	0.692000	0.31613	0.240000	0.17902	CAC		0.632	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903	
TMEM217	221468	broad.mit.edu	37	6	37186622	37186622	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:37186622C>A	ENST00000336655.2	-	2	224	c.185G>T	c.(184-186)tGc>tTc	p.C62F	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.C62F	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	62						integral component of membrane (GO:0016021)		p.C62F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						AAAACTCCAGCAGATGATGAA	0.458																																					p.C62F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G185T	6						.						271.0	258.0	263.0					6																	37186622		2203	4300	6503	37294600	SO:0001583	missense	221468	exon2				CCDS4831.1, CCDS69102.1	6p21.31-p21.2	2008-10-20	2008-07-07	2008-07-07	ENSG00000172738	ENSG00000172738			21238	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 128"""	C6orf128			Standard	NM_001162900		Approved	dJ355M6.2	uc010jws.3	Q8N7C4	OTTHUMG00000014618	ENST00000336655.2:c.185G>T	6.37:g.37186622C>A	ENSP00000338164:p.Cys62Phe		37294600	NM_145316	Q8TC54	Missense_Mutation	SNP	ENST00000336655.2	37	CCDS4831.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228427	0.39399	.	.	ENSG00000172738	ENST00000356757;ENST00000336655	.	.	.	4.81	3.87	0.44632	.	.	.	.	.	T	0.38374	0.1038	L	0.50333	1.59	0.09310	N	0.999992	D;D	0.71674	0.996;0.998	D;D	0.71414	0.973;0.964	T	0.13072	-1.0523	8	0.27082	T	0.32	-27.0323	9.7757	0.40618	0.2625:0.7375:0.0:0.0	.	62;62	Q8N7C4-2;Q8N7C4	.;TM217_HUMAN	F	62	.	ENSP00000338164:C62F	C	-	2	0	TMEM217	37294600	0.944000	0.32072	0.048000	0.18961	0.113000	0.19764	1.250000	0.32850	1.203000	0.43233	0.609000	0.83330	TGC		0.458	TMEM217-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357542.1	NM_145316	
MDGA1	266727	broad.mit.edu	37	6	37622653	37622653	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:37622653T>C	ENST00000434837.3	-	5	1813	c.635A>G	c.(634-636)tAc>tGc	p.Y212C	MDGA1_ENST00000505425.1_Missense_Mutation_p.Y212C|MDGA1_ENST00000297153.7_Missense_Mutation_p.Y212C	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	212	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.Y212C(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGGCAGGTGTAGCTGGCATA	0.607																																					p.Y212C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A635G	6						.						126.0	137.0	134.0					6																	37622653		2150	4249	6399	37730631	SO:0001583	missense	266727	exon5			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.635A>G	6.37:g.37622653T>C	ENSP00000402584:p.Tyr212Cys		37730631	NM_153487	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.853054	0.91355	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.74315	-0.83;-0.83;-0.83	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45126	D	0.000400	D	0.82875	0.5132	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85634	0.1272	10	0.87932	D	0	.	15.1724	0.72884	0.0:0.0:0.0:1.0	.	212	Q8NFP4	MDGA1_HUMAN	C	212	ENSP00000402584:Y212C;ENSP00000297153:Y212C;ENSP00000422042:Y212C	ENSP00000297153:Y212C	Y	-	2	0	MDGA1	37730631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.183000	0.69458	0.533000	0.62120	TAC		0.607	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
ZFAND3	60685	broad.mit.edu	37	6	38084399	38084399	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:38084399A>T	ENST00000287218.4	+	5	860	c.413A>T	c.(412-414)gAg>gTg	p.E138V	ZFAND3_ENST00000373391.2_Missense_Mutation_p.E116V	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	138							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E138V(1)		endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						CGACTACTTGAGAATACGGAA	0.502																																					p.E138V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A413T	6						.						134.0	113.0	120.0					6																	38084399		2203	4300	6503	38192377	SO:0001583	missense	60685	exon5			AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.413A>T	6.37:g.38084399A>T	ENSP00000287218:p.Glu138Val		38192377	NM_021943	Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	CCDS4836.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.932646|3.932646	0.73442|0.73442	.|.	.|.	ENSG00000156639|ENSG00000156639	ENST00000287218;ENST00000373391;ENST00000474522|ENST00000373389	T|.	0.55588|.	0.51|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.364802|.	0.32655|.	N|.	0.005819|.	T|.	0.24547|.	0.0595|.	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	B|.	0.20671|.	0.047|.	B|.	0.21708|.	0.036|.	T|.	0.21621|.	-1.0240|.	10|.	0.38643|.	T|.	0.18|.	-2.8383|-2.8383	15.4984|15.4984	0.75677|0.75677	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	138|.	Q9H8U3|.	ZFAN3_HUMAN|.	V|C	138;116;169|114	ENSP00000420240:E169V|.	ENSP00000287218:E138V|.	E|X	+|+	2|3	0|0	ZFAND3|ZFAND3	38192377|38192377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	4.414000|4.414000	0.59802|0.59802	2.113000|2.113000	0.64589|0.64589	0.528000|0.528000	0.53228|0.53228	GAG|TGA		0.502	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943	
DNAH8	1769	broad.mit.edu	37	6	38813385	38813385	+	Silent	SNP	C	C	T	rs200549336	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:38813385C>T	ENST00000359357.3	+	34	4484	c.4230C>T	c.(4228-4230)atC>atT	p.I1410I	DNAH8_ENST00000441566.1_Silent_p.I1410I|DNAH8_ENST00000449981.2_Silent_p.I1627I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1410					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I1410I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAGGATATCGAAGCCAAGC	0.383													C|||	28	0.00559105	0.0	0.0	5008	,	,		19483	0.001		0.0	False		,,,				2504	0.0276				p.I1410I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4230T	6						.						87.0	81.0	83.0					6																	38813385		2203	4300	6503	38921363	SO:0001819	synonymous_variant	1769	exon34			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4230C>T	6.37:g.38813385C>T			38921363	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37																																																																																					0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38820534	38820534	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:38820534G>A	ENST00000359357.3	+	38	5134	c.4880G>A	c.(4879-4881)cGc>cAc	p.R1627H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1627H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1844H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1627					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1627H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACTATGATCGCATCATGGCC	0.378																																					p.R1627H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4880A	6						.						100.0	98.0	99.0					6																	38820534		2203	4300	6503	38928512	SO:0001583	missense	1769	exon38			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4880G>A	6.37:g.38820534G>A	ENSP00000352312:p.Arg1627His		38928512	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	17.07	3.294705	0.60086	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26660	1.78;1.77;1.72	4.93	4.04	0.47022	Dynein heavy chain, domain-2 (1);	0.234998	0.36815	N	0.002391	T	0.37598	0.1009	M	0.82132	2.575	0.38515	D	0.948569	D	0.62365	0.991	P	0.61940	0.896	T	0.23976	-1.0173	10	0.52906	T	0.07	.	10.5804	0.45252	0.1539:0.0:0.8461:0.0	.	1627	Q96JB1	DYH8_HUMAN	H	1832;1832;1627;1627	ENSP00000333363:R1832H;ENSP00000352312:R1627H;ENSP00000402294:R1627H	ENSP00000333363:R1832H	R	+	2	0	DNAH8	38928512	0.998000	0.40836	0.994000	0.49952	0.605000	0.37080	2.811000	0.47986	2.451000	0.82905	0.467000	0.42956	CGC		0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
DNAH8	1769	broad.mit.edu	37	6	38831767	38831767	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:38831767G>T	ENST00000359357.3	+	43	6032	c.5778G>T	c.(5776-5778)aaG>aaT	p.K1926N	DNAH8_ENST00000441566.1_Missense_Mutation_p.K1926N|DNAH8_ENST00000449981.2_Missense_Mutation_p.K2143N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1926	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1926N(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGAAAGAAAGAAACAGTTCA	0.323																																					p.K1926N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5778T	6						.						78.0	79.0	78.0					6																	38831767		2203	4299	6502	38939745	SO:0001583	missense	1769	exon43			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5778G>T	6.37:g.38831767G>T	ENSP00000352312:p.Lys1926Asn		38939745	NM_001371	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.42|17.42	3.385664|3.385664	0.61956|0.61956	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	T;T;T|.	0.14266|.	2.52;2.52;2.52|.	5.79|5.79	2.13|2.13	0.27403|0.27403	ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49779|0.49779	0.1577|0.1577	M|M	0.67953|0.67953	2.075|2.075	0.49130|0.49130	D|D	0.999756|0.999756	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.48647|0.48647	-0.9017|-0.9017	10|5	0.51188|.	T|.	0.08|.	.|.	9.3541|9.3541	0.38155|0.38155	0.6425:0.0:0.3575:0.0|0.6425:0.0:0.3575:0.0	.|.	1926|.	Q96JB1|.	DYH8_HUMAN|.	N|I	2131;2131;1926;1926|8	ENSP00000333363:K2131N;ENSP00000352312:K1926N;ENSP00000402294:K1926N|.	ENSP00000333363:K2131N|.	K|R	+|+	3|2	2|0	DNAH8|DNAH8	38939745|38939745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.896000|0.896000	0.52359|0.52359	1.047000|1.047000	0.30367|0.30367	0.448000|0.448000	0.26722|0.26722	-0.339000|-0.339000	0.08088|0.08088	AAG|AGA		0.323	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
TREM1	54210	broad.mit.edu	37	6	41250156	41250156	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:41250156C>T	ENST00000244709.4	-	2	446	c.383G>A	c.(382-384)cGc>cAc	p.R128H	TREM1_ENST00000334475.6_Missense_Mutation_p.R128H|TREM1_ENST00000589614.1_Missense_Mutation_p.R128H|TREM1_ENST00000591620.1_Missense_Mutation_p.R128H	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	128	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.R128H(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAAGCGGATGCGATCGAACAG	0.567																																					p.R128H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G383A	6						.						67.0	53.0	58.0					6																	41250156		2203	4300	6503	41358134	SO:0001583	missense	54210	exon2			AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.383G>A	6.37:g.41250156C>T	ENSP00000244709:p.Arg128His		41358134	NM_018643	B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093098	0.36952	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.12984	2.99;2.63	4.26	-0.658	0.11428	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.919541	0.09061	N	0.854284	T	0.06416	0.0165	L	0.42245	1.32	0.09310	N	1	D;D	0.65815	0.995;0.994	P;P	0.51385	0.538;0.668	T	0.18871	-1.0323	10	0.46703	T	0.11	-0.5894	4.3455	0.11131	0.2849:0.3244:0.3907:0.0	.	128;128	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	H	128	ENSP00000244709:R128H;ENSP00000334284:R128H	ENSP00000244709:R128H	R	-	2	0	TREM1	41358134	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.250000	0.08830	-0.264000	0.09365	-0.976000	0.02587	CGC		0.567	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643	
USP49	25862	broad.mit.edu	37	6	41773658	41773658	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:41773658A>G	ENST00000394253.3	-	3	1393	c.1064T>C	c.(1063-1065)aTt>aCt	p.I355T	USP49_ENST00000373006.1_Missense_Mutation_p.I355T|USP49_ENST00000297229.2_Missense_Mutation_p.I355T|USP49_ENST00000373010.1_Missense_Mutation_p.I355T|USP49_ENST00000373009.3_Missense_Mutation_p.I355T			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	355	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCAGAGGGAAATGTGCTTTGA	0.612																																					p.I355T												.	.	0			c.T1064C	6						.						64.0	63.0	64.0					6																	41773658		2203	4300	6503	41881636	SO:0001583	missense	25862	exon4			AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1064T>C	6.37:g.41773658A>G	ENSP00000377797:p.Ile355Thr		41881636	NM_018561	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37		.	.	.	.	.	.	.	.	.	.	A	16.08	3.020231	0.54576	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.73681	3.69;3.19;3.69;-0.77;-0.77	5.1	5.1	0.69264	.	0.178696	0.64402	D	0.000011	T	0.58481	0.2125	L	0.43152	1.355	0.41213	D	0.986452	B	0.26081	0.141	B	0.35182	0.197	T	0.58814	-0.7570	10	0.24483	T	0.36	-6.7433	14.8356	0.70180	1.0:0.0:0.0:0.0	.	355	Q70CQ1-2	.	T	355	ENSP00000377797:I355T;ENSP00000362101:I355T;ENSP00000362100:I355T;ENSP00000362097:I355T;ENSP00000297229:I355T	ENSP00000297229:I355T	I	-	2	0	USP49	41881636	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	9.287000	0.95975	2.039000	0.60335	0.533000	0.62120	ATT		0.612	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561	
GLTSCR1L	23506	broad.mit.edu	37	6	42796598	42796598	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:42796598C>T	ENST00000314073.5	+	6	703	c.527C>T	c.(526-528)tCg>tTg	p.S176L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S176L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	176								p.S176L(1)									GTTGGAGCATCGTTTGCAAGC	0.468																																					p.S176L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C527T	6						.						163.0	147.0	153.0					6																	42796598		2203	4300	6503	42904576	SO:0001583	missense	23506	exon5			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.527C>T	6.37:g.42796598C>T	ENSP00000313933:p.Ser176Leu		42904576	NM_015349	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791252	0.70452	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.37235	1.21;1.21	5.61	5.61	0.85477	.	0.000000	0.56097	D	0.000026	T	0.47507	0.1449	L	0.51422	1.61	0.53005	D	0.99996	D;D;D	0.76494	0.996;0.999;0.999	P;D;D	0.64595	0.815;0.927;0.927	T	0.28996	-1.0026	10	0.48119	T	0.1	-7.767	20.0018	0.97417	0.0:1.0:0.0:0.0	.	176;176;176	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	L	176	ENSP00000313933:S176L;ENSP00000377723:S176L	ENSP00000313933:S176L	S	+	2	0	KIAA0240	42904576	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.317000	0.65822	2.793000	0.96121	0.655000	0.94253	TCG		0.468	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349	
CUL9	23113	broad.mit.edu	37	6	43154154	43154154	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:43154154C>T	ENST00000252050.4	+	4	1296	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	CUL9_ENST00000372647.2_Silent_p.G404G|CUL9_ENST00000354495.3_Silent_p.G404G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	404					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.G404G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGACGAGGGCGAGTTCCGGC	0.582																																					p.G404G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1212T	6						.						66.0	56.0	59.0					6																	43154154		2203	4300	6503	43262132	SO:0001819	synonymous_variant	23113	exon4			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1212C>T	6.37:g.43154154C>T			43262132	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	CCDS4890.1																																																																																				0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
ZNF318	24149	broad.mit.edu	37	6	43316351	43316351	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:43316351C>T	ENST00000361428.2	-	6	2860	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	ZNF318_ENST00000318149.3_Missense_Mutation_p.R928H	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	928					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R928H(2)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCGTTTCTTGCGCAGCATTTC	0.433																																					p.R928H												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.G2783A	6						.																																			43424329	SO:0001583	missense	24149	exon6			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2783G>A	6.37:g.43316351C>T	ENSP00000354964:p.Arg928His		43424329	NM_014345	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	35	5.491094	0.96339	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.62105	0.05;2.05	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	L	0.32530	0.975	0.51767	D	0.999937	D	0.89917	1.0	D	0.87578	0.998	T	0.70608	-0.4825	10	0.87932	D	0	-9.0843	20.5568	0.99304	0.0:1.0:0.0:0.0	.	928	Q5VUA4	ZN318_HUMAN	H	928	ENSP00000323032:R928H;ENSP00000354964:R928H	ENSP00000323032:R928H	R	-	2	0	ZNF318	43424329	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	CGC		0.433	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
MAD2L1BP	9587	broad.mit.edu	37	6	43604140	43604140	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:43604140C>T	ENST00000372171.4	+	2	126	c.69C>T	c.(67-69)tcC>tcT	p.S23S	MAD2L1BP_ENST00000451025.2_Silent_p.S55S|MAD2L1BP_ENST00000508232.1_3'UTR	NM_014628.2	NP_055443.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	23					mitotic cell cycle checkpoint (GO:0007093)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S23S(1)		breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ATGAGAAGTCCGAAGAAACTC	0.473																																					p.S55S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	6						.						80.0	79.0	80.0					6																	43604140		2203	4300	6503	43712118	SO:0001819	synonymous_variant	9587	exon3			BC002904	CCDS4904.1, CCDS47431.1	6p21.1	2003-06-23			ENSG00000124688	ENSG00000124688			21059	protein-coding gene	gene with protein product						7788527, 12456649	Standard	NM_014628		Approved	CMT2, KIAA0110, dJ261G23.1	uc003ovu.3	Q15013	OTTHUMG00000014747	ENST00000372171.4:c.69C>T	6.37:g.43604140C>T			43712118	NM_001003690	B4DLV3|E9PAT7|Q6IBB1	Silent	SNP	ENST00000372171.4	37	CCDS4904.1																																																																																				0.473	MAD2L1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040692.2	NM_014628	
TMEM63B	55362	broad.mit.edu	37	6	44122178	44122178	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:44122178C>A	ENST00000259746.9	+	23	2486	c.2303C>A	c.(2302-2304)tCt>tAt	p.S768Y	TMEM63B_ENST00000323267.6_Missense_Mutation_p.S768Y			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	768					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.S768Y(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GTCCCCAAATCTGCGGTGAGT	0.592																																					p.S768Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2303A	6						.						79.0	84.0	82.0					6																	44122178		2203	4300	6503	44230156	SO:0001583	missense	55362	exon23			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.2303C>A	6.37:g.44122178C>A	ENSP00000259746:p.Ser768Tyr		44230156	NM_018426	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.49|17.49	3.402708|3.402708	0.62288|0.62288	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000371893|ENST00000259746;ENST00000323267	.|T;T	.|0.45668	.|0.89;0.89	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.357911	.|0.23736	.|N	.|0.045061	T|T	0.22437|0.22437	0.0541|0.0541	L|L	0.38175|0.38175	1.15|1.15	0.42150|0.42150	D|D	0.991553|0.991553	.|B	.|0.28470	.|0.213	.|B	.|0.26310	.|0.068	T|T	0.12116|0.12116	-1.0560|-1.0560	5|10	.|0.59425	.|D	.|0.04	.|.	15.1791|15.1791	0.72941|0.72941	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|768	.|Q5T3F8	.|TM63B_HUMAN	M|Y	697|768	.|ENSP00000259746:S768Y;ENSP00000327154:S768Y	.|ENSP00000259746:S768Y	L|S	+|+	1|2	2|0	TMEM63B|TMEM63B	44230156|44230156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	3.830000|3.830000	0.55768|0.55768	2.271000|2.271000	0.75665|0.75665	0.449000|0.449000	0.29647|0.29647	CTG|TCT		0.592	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	
SLC29A1	2030	broad.mit.edu	37	6	44197326	44197326	+	Splice_Site	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:44197326T>C	ENST00000393841.1	+	5	603	c.112T>C	c.(112-114)Tat>Cat	p.Y38H	SLC29A1_ENST00000371713.1_Splice_Site_p.Y38H|SLC29A1_ENST00000371731.1_Splice_Site_p.Y38H|SLC29A1_ENST00000393844.1_Splice_Site_p.Y38H|SLC29A1_ENST00000427851.2_Splice_Site_p.Y38H|SLC29A1_ENST00000371740.5_Splice_Site_p.Y38H|SLC29A1_ENST00000313248.7_Splice_Site_p.Y117H|SLC29A1_ENST00000371708.1_Splice_Site_p.Y38H|SLC29A1_ENST00000371724.1_Splice_Site_p.Y38H|SLC29A1_ENST00000371755.3_Splice_Site_p.Y38H|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	38					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.Y38H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	acccctgcagtatttcacaAA	0.587																																					p.Y38H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T112C	6						.						91.0	89.0	90.0					6																	44197326		2203	4300	6503	44305304	SO:0001630	splice_region_variant	2030	exon4			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.112-1T>C	6.37:g.44197326T>C			44305304	NM_001078174	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.859416	0.51376	.	.	ENSG00000112759	ENST00000544345;ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	D;D;D;D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.33	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.91643	0.7359	H	0.95884	3.735	0.53005	D	0.999961	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.92613	0.6101	9	.	.	.	0.2613	8.5264	0.33307	0.0:0.0874:0.0:0.9126	.	38;57;117;38	B7Z1J8;B7Z914;B3KQV7;Q99808	.;.;.;S29A1_HUMAN	H	57;38;117;38;38;38;38;38;38;38;38	ENSP00000377427:Y38H;ENSP00000319152:Y117H;ENSP00000392668:Y38H;ENSP00000360820:Y38H;ENSP00000360805:Y38H;ENSP00000360796:Y38H;ENSP00000377424:Y38H;ENSP00000360789:Y38H;ENSP00000360778:Y38H;ENSP00000360773:Y38H	.	Y	+	1	0	SLC29A1	44305304	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	1.652000	0.37313	2.016000	0.59253	0.460000	0.39030	TAT		0.587	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1		Missense_Mutation
ENPP4	22875	broad.mit.edu	37	6	46107617	46107617	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46107617G>T	ENST00000321037.4	+	2	527	c.297G>T	c.(295-297)aaG>aaT	p.K99N		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	99					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.K99N(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CAGTCACAAAGAAACACTTTT	0.403																																					p.K99N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G297T	6						.						100.0	89.0	92.0					6																	46107617		2203	4299	6502	46215576	SO:0001583	missense	22875	exon2			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.297G>T	6.37:g.46107617G>T	ENSP00000318066:p.Lys99Asn		46215576	NM_014936	A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	9.062	0.994846	0.19043	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.73681	-0.77	5.97	5.1	0.69264	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.307082	0.40144	N	0.001179	T	0.44850	0.1313	N	0.12611	0.24	0.45867	D	0.998728	D	0.57257	0.979	P	0.49361	0.608	T	0.55749	-0.8092	10	0.02654	T	1	-10.8846	12.8072	0.57619	0.1282:0.0:0.8717:0.0	.	99	Q9Y6X5	ENPP4_HUMAN	N	99	ENSP00000318066:K99N	ENSP00000318066:K99N	K	+	3	2	ENPP4	46215576	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.361000	0.34136	2.836000	0.97738	0.655000	0.94253	AAG		0.403	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2		
ENPP4	22875	broad.mit.edu	37	6	46107978	46107978	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46107978A>G	ENST00000321037.4	+	2	888	c.658A>G	c.(658-660)Aga>Gga	p.R220G		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	220					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTTAGTCCAAAGACTCAAGAT	0.403																																					p.R220G												.	.	0			c.A658G	6						.						122.0	115.0	117.0					6																	46107978		2203	4300	6503	46215937	SO:0001583	missense	22875	exon2			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.658A>G	6.37:g.46107978A>G	ENSP00000318066:p.Arg220Gly		46215937	NM_014936	A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.219502	0.39201	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.70986	-0.53	5.91	5.91	0.95273	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.241984	0.49916	D	0.000126	T	0.20333	0.0489	N	0.02708	-0.52	0.21445	N	0.999689	B	0.19200	0.034	B	0.24006	0.05	T	0.13019	-1.0525	10	0.02654	T	1	-10.0293	10.6452	0.45615	0.9292:0.0:0.0708:0.0	.	220	Q9Y6X5	ENPP4_HUMAN	G	220	ENSP00000318066:R220G	ENSP00000318066:R220G	R	+	1	2	ENPP4	46215937	0.707000	0.27866	0.511000	0.27724	0.960000	0.62799	1.425000	0.34859	2.254000	0.74563	0.533000	0.62120	AGA		0.403	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2		
ENPP5	59084	broad.mit.edu	37	6	46135782	46135782	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46135782T>C	ENST00000371383.2	-	3	478	c.218A>G	c.(217-219)tAc>tGc	p.Y73C	ENPP5_ENST00000230565.3_Missense_Mutation_p.Y73C|ENPP5_ENST00000492313.1_5'Flank					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)									p.Y73C(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATGGTTAGGGTAGGTTTTTGT	0.343																																					p.Y73C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A218G	6						.						56.0	53.0	54.0					6																	46135782		2203	4300	6503	46243741	SO:0001583	missense	59084	exon2			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.218A>G	6.37:g.46135782T>C	ENSP00000360436:p.Tyr73Cys		46243741	NM_021572		Missense_Mutation	SNP	ENST00000371383.2	37	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842235	0.51057	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.72051	-0.62;-0.62	5.51	5.51	0.81932	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.123115	0.56097	D	0.000024	T	0.77968	0.4210	M	0.76574	2.34	0.40449	D	0.980128	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.81915	-0.0714	10	0.87932	D	0	-5.7128	10.5631	0.45156	0.2595:0.0:0.0:0.7405	.	73;73	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	C	73	ENSP00000360436:Y73C;ENSP00000230565:Y73C	ENSP00000230565:Y73C	Y	-	2	0	ENPP5	46243741	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.921000	0.40035	2.217000	0.71921	0.482000	0.46254	TAC		0.343	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2		
TDRD6	221400	broad.mit.edu	37	6	46656871	46656871	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46656871C>T	ENST00000316081.6	+	1	1006	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R336W	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	336	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.R336W(2)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGAGACTTTTCGGCCCCAGCG	0.552																																					p.R336W												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.C1006T	6						.						87.0	85.0	86.0					6																	46656871		2203	4300	6503	46764830	SO:0001583	missense	221400	exon1			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1006C>T	6.37:g.46656871C>T	ENSP00000346065:p.Arg336Trp		46764830	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484349	0.44147	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10288	2.89;2.89	5.34	3.5	0.40072	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.581095	0.17327	N	0.178247	T	0.11665	0.0284	L	0.42245	1.32	0.22317	N	0.999208	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	T	0.07424	-1.0773	10	0.56958	D	0.05	-4.8162	10.2801	0.43534	0.2797:0.5925:0.1278:0.0	.	336;336	F5H5M3;O60522	.;TDRD6_HUMAN	W	336	ENSP00000443299:R336W;ENSP00000346065:R336W	ENSP00000346065:R336W	R	+	1	2	TDRD6	46764830	0.295000	0.24389	0.975000	0.42487	0.964000	0.63967	1.909000	0.39917	0.760000	0.33108	-0.181000	0.13052	CGG		0.552	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
TDRD6	221400	broad.mit.edu	37	6	46658308	46658308	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46658308C>T	ENST00000316081.6	+	1	2443	c.2443C>T	c.(2443-2445)Cct>Tct	p.P815S	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.P815S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	815					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.P815S(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TACAGCTGCTCCTCACCAGAG	0.433																																					p.P815S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2443T	6						.						114.0	116.0	115.0					6																	46658308		2203	4300	6503	46766267	SO:0001583	missense	221400	exon1			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2443C>T	6.37:g.46658308C>T	ENSP00000346065:p.Pro815Ser		46766267	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236612	0.22711	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09445	2.98;2.98	5.75	3.96	0.45880	Maternal tudor protein (1);Tudor domain (1);	0.522376	0.20035	N	0.100633	T	0.06826	0.0174	L	0.37561	1.115	0.09310	N	1	P;D	0.62365	0.945;0.991	P;D	0.65010	0.819;0.931	T	0.16424	-1.0403	10	0.13108	T	0.6	-13.3479	7.8333	0.29355	0.0:0.7266:0.1339:0.1394	.	815;815	F5H5M3;O60522	.;TDRD6_HUMAN	S	815	ENSP00000443299:P815S;ENSP00000346065:P815S	ENSP00000346065:P815S	P	+	1	0	TDRD6	46766267	0.543000	0.26434	0.001000	0.08648	0.001000	0.01503	3.800000	0.55537	0.768000	0.33290	-0.136000	0.14681	CCT		0.433	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
TDRD6	221400	broad.mit.edu	37	6	46660396	46660396	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46660396C>A	ENST00000316081.6	+	1	4531	c.4531C>A	c.(4531-4533)Ctt>Att	p.L1511I	TDRD6_ENST00000544460.1_Missense_Mutation_p.L1511I	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1511					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.L1511I(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTCAGTATTTCTTAACTGGTA	0.358																																					p.L1511I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4531A	6						.						73.0	76.0	75.0					6																	46660396		2203	4300	6503	46768355	SO:0001583	missense	221400	exon1			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4531C>A	6.37:g.46660396C>A	ENSP00000346065:p.Leu1511Ile		46768355	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710794	0.30322	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.16457	2.34;2.35	5.77	4.9	0.64082	.	0.516957	0.19039	N	0.124334	T	0.14657	0.0354	L	0.60455	1.87	0.30294	N	0.790081	D;P	0.57899	0.981;0.944	P;P	0.54889	0.763;0.585	T	0.06862	-1.0803	10	0.28530	T	0.3	-5.1865	9.9144	0.41425	0.0:0.7968:0.0:0.2032	.	1511;1511	F5H5M3;O60522	.;TDRD6_HUMAN	I	1511	ENSP00000443299:L1511I;ENSP00000346065:L1511I	ENSP00000346065:L1511I	L	+	1	0	TDRD6	46768355	0.001000	0.12720	0.989000	0.46669	0.924000	0.55760	0.547000	0.23299	1.583000	0.49898	0.655000	0.94253	CTT		0.358	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
TDRD6	221400	broad.mit.edu	37	6	46660721	46660721	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46660721C>T	ENST00000316081.6	+	1	4856	c.4856C>T	c.(4855-4857)gCc>gTc	p.A1619V	TDRD6_ENST00000544460.1_Missense_Mutation_p.A1619V	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1619	Tudor 7. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.A1619V(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCACTCTGGGCCATTCCTTCT	0.433																																					p.A1619V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4856T	6						.						115.0	121.0	119.0					6																	46660721		2203	4300	6503	46768680	SO:0001583	missense	221400	exon1			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4856C>T	6.37:g.46660721C>T	ENSP00000346065:p.Ala1619Val		46768680	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802185	0.31869	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10005	2.92;2.92	5.87	-0.713	0.11223	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.777702	0.12504	N	0.463120	T	0.01730	0.0055	N	0.17838	0.53	0.09310	N	1	P;P	0.37141	0.529;0.584	B;B	0.34590	0.117;0.186	T	0.45279	-0.9272	10	0.29301	T	0.29	-2.9022	6.8062	0.23779	0.3515:0.387:0.2615:0.0	.	1619;1619	F5H5M3;O60522	.;TDRD6_HUMAN	V	1619	ENSP00000443299:A1619V;ENSP00000346065:A1619V	ENSP00000346065:A1619V	A	+	2	0	TDRD6	46768680	0.000000	0.05858	0.843000	0.33291	0.903000	0.53119	-0.033000	0.12246	-0.348000	0.08286	-0.274000	0.10170	GCC		0.433	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
TDRD6	221400	broad.mit.edu	37	6	46661296	46661296	+	Missense_Mutation	SNP	T	T	C	rs532284015	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46661296T>C	ENST00000316081.6	+	1	5431	c.5431T>C	c.(5431-5433)Tac>Cac	p.Y1811H	TDRD6_ENST00000544460.1_Missense_Mutation_p.Y1811H	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1811					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)		p.Y1811H(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGATGATAAATACCTGATTAC	0.388																																					p.Y1811H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T5431C	6						.						80.0	85.0	84.0					6																	46661296		2203	4300	6503	46769255	SO:0001583	missense	221400	exon1			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5431T>C	6.37:g.46661296T>C	ENSP00000346065:p.Tyr1811His		46769255	NM_001010870	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.696503	0.30142	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.13901	2.55;2.55	5.81	4.54	0.55810	.	0.636917	0.15550	N	0.256482	T	0.09818	0.0241	L	0.51422	1.61	0.09310	N	1	D;P	0.54601	0.967;0.944	P;P	0.55303	0.773;0.598	T	0.17137	-1.0379	10	0.23891	T	0.37	-2.8096	6.7132	0.23288	0.2013:0.0:0.1245:0.6742	.	1811;1811	F5H5M3;O60522	.;TDRD6_HUMAN	H	1811	ENSP00000443299:Y1811H;ENSP00000346065:Y1811H	ENSP00000346065:Y1811H	Y	+	1	0	TDRD6	46769255	0.001000	0.12720	0.010000	0.14722	0.111000	0.19643	0.620000	0.24403	2.210000	0.71456	0.533000	0.62120	TAC		0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
PLA2G7	7941	broad.mit.edu	37	6	46678321	46678321	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46678321C>A	ENST00000274793.7	-	8	934	c.738G>T	c.(736-738)aaG>aaT	p.K246N	PLA2G7_ENST00000537365.1_Missense_Mutation_p.K246N|PLA2G7_ENST00000541026.1_Missense_Mutation_p.K119N|PLA2G7_ENST00000538237.1_Missense_Mutation_p.K201N	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	246					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.K246N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			CTAATGCATTCTTCACTGGCT	0.318																																					p.K246N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G738T	6						.						111.0	110.0	111.0					6																	46678321		2203	4300	6503	46786280	SO:0001583	missense	7941	exon8			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.738G>T	6.37:g.46678321C>A	ENSP00000274793:p.Lys246Asn		46786280	NM_001168357	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335441	0.24253	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.87	5.01	0.66863	.	0.658224	0.16992	N	0.191244	T	0.16938	0.0407	L	0.38838	1.175	0.31897	N	0.616482	B;B;B;B	0.32781	0.259;0.066;0.384;0.384	B;B;B;B	0.29353	0.101;0.036;0.093;0.093	T	0.07028	-1.0794	10	0.17832	T	0.49	.	10.1381	0.42719	0.0:0.7913:0.1368:0.0719	.	119;201;246;246	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	N	246;246;201;119	ENSP00000274793:K246N;ENSP00000445666:K246N;ENSP00000441416:K201N;ENSP00000444164:K119N	ENSP00000274793:K246N	K	-	3	2	PLA2G7	46786280	0.002000	0.14202	0.781000	0.31783	0.974000	0.67602	-0.067000	0.11579	1.499000	0.48617	0.655000	0.94253	AAG		0.318	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		
GPR116	221395	broad.mit.edu	37	6	46826408	46826408	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46826408G>A	ENST00000283296.7	-	17	3520	c.3232C>T	c.(3232-3234)Cgc>Tgc	p.R1078C	GPR116_ENST00000545669.1_Missense_Mutation_p.R507C|GPR116_ENST00000265417.7_Missense_Mutation_p.R1078C|GPR116_ENST00000362015.4_Missense_Mutation_p.R1078C|GPR116_ENST00000456426.2_Missense_Mutation_p.R936C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1078					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1078C(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGTATGTAGCGATTGTCCTGG	0.537																																					p.R1078C	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3232T	6						.						66.0	63.0	64.0					6																	46826408		2203	4300	6503	46934367	SO:0001583	missense	221395	exon17			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3232C>T	6.37:g.46826408G>A	ENSP00000283296:p.Arg1078Cys		46934367	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	6.466	0.454227	0.12283	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.16	1.05	0.20165	GPCR, family 2-like (1);	1.223500	0.05664	N	0.587464	T	0.21227	0.0511	L	0.39898	1.24	0.09310	N	1	P;P;D;D;D	0.63046	0.71;0.844;0.992;0.973;0.992	B;B;P;B;P	0.49597	0.398;0.289;0.616;0.364;0.616	T	0.08186	-1.0734	10	0.38643	T	0.18	-1.0826	4.7401	0.13008	0.4453:0.0:0.3803:0.1743	.	507;633;1078;936;1078	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	C	1078;1078;1078;936;449;1078;507	ENSP00000283296:R1078C;ENSP00000354563:R1078C;ENSP00000412866:R936C;ENSP00000265417:R1078C;ENSP00000441581:R507C	ENSP00000265417:R1078C	R	-	1	0	GPR116	46934367	0.001000	0.12720	0.000000	0.03702	0.114000	0.19823	1.037000	0.30241	-0.037000	0.13646	0.650000	0.86243	CGC		0.537	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
GPR116	221395	broad.mit.edu	37	6	46826507	46826507	+	Missense_Mutation	SNP	G	G	A	rs200682859		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46826507G>A	ENST00000283296.7	-	17	3421	c.3133C>T	c.(3133-3135)Cgg>Tgg	p.R1045W	GPR116_ENST00000545669.1_Missense_Mutation_p.R474W|GPR116_ENST00000265417.7_Missense_Mutation_p.R1045W|GPR116_ENST00000362015.4_Missense_Mutation_p.R1045W|GPR116_ENST00000456426.2_Missense_Mutation_p.R903W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1045					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1045W(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TAAGAAGTCCGGTTCTTGGTC	0.512																																					p.R1045W	NSCLC(59;410 1274 8751 36715 50546)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3133T	6						.						61.0	60.0	60.0					6																	46826507		2203	4300	6503	46934466	SO:0001583	missense	221395	exon17			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3133C>T	6.37:g.46826507G>A	ENSP00000283296:p.Arg1045Trp		46934466	NM_001098518	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780106	0.70222	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.46	5.46	0.80206	GPCR, family 2-like (1);	0.135832	0.33253	N	0.005115	T	0.54255	0.1847	M	0.84326	2.69	0.37306	D	0.90891	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.977;0.983;0.995;0.972;0.995	T	0.62651	-0.6809	10	0.87932	D	0	-15.3776	12.4401	0.55619	0.0:0.0:0.7177:0.2823	.	474;600;1045;903;1045	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	W	1045;1045;1045;903;416;1045;474	ENSP00000283296:R1045W;ENSP00000354563:R1045W;ENSP00000412866:R903W;ENSP00000265417:R1045W;ENSP00000441581:R474W	ENSP00000265417:R1045W	R	-	1	2	GPR116	46934466	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.208000	0.42797	2.561000	0.86390	0.650000	0.86243	CGG		0.512	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
GPR110	266977	broad.mit.edu	37	6	46977920	46977920	+	Silent	SNP	C	C	T	rs147609073	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:46977920C>T	ENST00000371253.2	-	11	1466	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	GPR110_ENST00000283297.5_Silent_p.P220P|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	417					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P417P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GAAGAGCTGTCGGAGGCACCA	0.443																																					p.P417P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1251A	6						.						83.0	78.0	79.0					6																	46977920		2203	4300	6503	47085879	SO:0001819	synonymous_variant	266977	exon11			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1251G>A	6.37:g.46977920C>T			47085879	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	CCDS34471.1																																																																																				0.443	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	
CD2AP	23607	broad.mit.edu	37	6	47544821	47544821	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:47544821A>C	ENST00000359314.5	+	8	1341	c.885A>C	c.(883-885)atA>atC	p.I295I		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	295	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.I295I(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGGGGAGATAATCCATTTGA	0.279																																					p.I295I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A885C	6						.						101.0	110.0	107.0					6																	47544821		2203	4292	6495	47652780	SO:0001819	synonymous_variant	23607	exon8			AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.885A>C	6.37:g.47544821A>C			47652780	NM_012120	A6NL34|Q5VYA3|Q9UG97	Silent	SNP	ENST00000359314.5	37	CCDS34472.1																																																																																				0.279	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2		
PTCHD4	442213	broad.mit.edu	37	6	47846815	47846815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:47846815G>A	ENST00000339488.4	-	3	1798	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	589						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.R589*(1)									ATATCATTTCGAAAATGCTGG	0.423																																					p.R589X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1765T	6						.						56.0	57.0	57.0					6																	47846815		2203	4300	6503	47954774	SO:0001587	stop_gained	442213	exon3				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1765C>T	6.37:g.47846815G>A	ENSP00000341914:p.Arg589*		47954774	NM_001013732	B0QZ29|B4DRK3|Q5T884	Nonsense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503325	0.85176	.	.	ENSG00000244694	ENST00000339488	.	.	.	5.48	5.48	0.80851	.	0.411520	0.23712	N	0.045315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	12.4608	0.55731	0.0:0.0:0.7182:0.2818	.	.	.	.	X	589	.	ENSP00000341914:R589X	R	-	1	2	C6orf138	47954774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.435000	0.59941	2.592000	0.87571	0.650000	0.86243	CGA		0.423	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
PTCHD4	442213	broad.mit.edu	37	6	47847084	47847084	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:47847084G>A	ENST00000339488.4	-	3	1529	c.1496C>T	c.(1495-1497)tCg>tTg	p.S499L		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	499						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.S499L(2)									AACACTTGGCGAATCACTGGC	0.453																																					p.S499L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C1496T	6						.						72.0	65.0	68.0					6																	47847084		2203	4300	6503	47955043	SO:0001583	missense	442213	exon3				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1496C>T	6.37:g.47847084G>A	ENSP00000341914:p.Ser499Leu		47955043	NM_001013732	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758298	0.69763	.	.	ENSG00000244694	ENST00000339488	D	0.87334	-2.24	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.92257	0.7544	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92647	0.6129	10	0.87932	D	0	.	19.3362	0.94320	0.0:0.0:1.0:0.0	.	499	Q6ZW05	CF138_HUMAN	L	499	ENSP00000341914:S499L	ENSP00000341914:S499L	S	-	2	0	C6orf138	47955043	1.000000	0.71417	0.911000	0.35937	0.771000	0.43674	9.476000	0.97823	2.592000	0.87571	0.650000	0.86243	TCG		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
PTCHD4	442213	broad.mit.edu	37	6	47976742	47976742	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:47976742G>A	ENST00000339488.4	-	2	568	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	PTCHD4_ENST00000543600.1_Missense_Mutation_p.L162F	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	179						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.L179F(3)									TAGGTCTGGAGGTAGTAGGTG	0.502																																					p.L179F												.	.	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	c.C535T	6						.						40.0	40.0	40.0					6																	47976742		1963	4150	6113	48084701	SO:0001583	missense	442213	exon2				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.535C>T	6.37:g.47976742G>A	ENSP00000341914:p.Leu179Phe		48084701	NM_207499	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.759915|4.759915	0.89932|0.89932	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000339488;ENST00000543600|ENST00000398738	D;D|.	0.86694|.	-2.16;-2.16|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71417|0.71417	0.3337|0.3337	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.973;1.0|.	P;D|.	0.87578|.	0.901;0.998|.	T|T	0.66272|0.66272	-0.5965|-0.5965	10|5	0.72032|.	D|.	0.01|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	179;162|.	Q6ZW05;B0QZ29|.	CF138_HUMAN;.|.	F|L	179;162|178	ENSP00000341914:L179F;ENSP00000439864:L162F|.	ENSP00000341914:L179F|.	L|P	-|-	1|2	0|0	C6orf138|C6orf138	48084701|48084701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.502	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732	
DEFB113	245927	broad.mit.edu	37	6	49936451	49936451	+	Missense_Mutation	SNP	G	G	A	rs201564508		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:49936451G>A	ENST00000398718.1	-	2	187	c.188C>T	c.(187-189)gCg>gTg	p.A63V		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	63					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.A63V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TTCCCATACCGCACAGCAGGG	0.343													g|||	1	0.000199681	0.0	0.0	5008	,	,		15183	0.0		0.0	False		,,,				2504	0.001				p.A63V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C188T	6						.	A	VAL/ALA	0,3682		0,0,1841	72.0	68.0	69.0		188	3.6	0.6	6		69	1,8165		0,1,4082	yes	missense	DEFB113	NM_001037729.1	64	0,1,5923	AA,AG,GG		0.0122,0.0,0.0084	benign	63/83	49936451	1,11847	1841	4083	5924	50044410	SO:0001583	missense	245927	exon2			DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.188C>T	6.37:g.49936451G>A	ENSP00000381703:p.Ala63Val		50044410	NM_001037729		Missense_Mutation	SNP	ENST00000398718.1	37	CCDS43472.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.780141	0.00634	0.0	1.22E-4	ENSG00000214642	ENST00000398718	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	T	0.09291	0.0229	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31110	-0.9955	6	.	.	.	-6.3808	5.904	0.18982	0.8806:0.0:0.1194:0.0	.	63	Q30KQ7	DB113_HUMAN	V	63	.	.	A	-	2	0	DEFB113	50044410	0.775000	0.28604	0.649000	0.29536	0.051000	0.14879	1.124000	0.31320	0.758000	0.33059	-0.381000	0.06696	GCG		0.343	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1		
DEFB113	245927	broad.mit.edu	37	6	49936524	49936524	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:49936524G>A	ENST00000398718.1	-	2	114	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	39					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R39C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CAAGCACCACGAACAAGCTGA	0.403																																					p.R39C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C115T	6						.						108.0	104.0	106.0					6																	49936524		1880	4108	5988	50044483	SO:0001583	missense	245927	exon2			DQ012017	CCDS43472.1	6p12.3	2010-03-30			ENSG00000214642	ENSG00000214642		"""Defensins, beta"""	18094	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037729		Approved	DEFB-13	uc011dwq.2	Q30KQ7	OTTHUMG00000160210	ENST00000398718.1:c.115C>T	6.37:g.49936524G>A	ENSP00000381703:p.Arg39Cys		50044483	NM_001037729		Missense_Mutation	SNP	ENST00000398718.1	37	CCDS43472.1	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181487	0.21787	.	.	ENSG00000214642	ENST00000398718	T	0.13089	2.62	4.15	1.02	0.19986	.	.	.	.	.	T	0.14399	0.0348	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.66847	0.947	T	0.05666	-1.0871	7	.	.	.	-8.2089	6.3984	0.21624	0.0:0.18:0.4521:0.368	.	39	Q30KQ7	DB113_HUMAN	C	39	ENSP00000381703:R39C	.	R	-	1	0	DEFB113	50044483	0.003000	0.15002	0.057000	0.19452	0.022000	0.10575	0.555000	0.23422	0.478000	0.27488	0.557000	0.71058	CGT		0.403	DEFB113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359666.1		
TFAP2B	7021	broad.mit.edu	37	6	50807990	50807990	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:50807990G>T	ENST00000393655.3	+	6	1231	c.1062G>T	c.(1060-1062)aaG>aaT	p.K354N	TFAP2B_ENST00000263046.4_Missense_Mutation_p.K363N	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	354					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.K354N(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACTCCCGAAAGAATATGCTGT	0.552																																					p.K354N	Pancreas(116;1373 2332 5475 10752)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1062T	6						.						91.0	92.0	92.0					6																	50807990		2203	4300	6503	50915949	SO:0001583	missense	7021	exon6			X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1062G>T	6.37:g.50807990G>T	ENSP00000377265:p.Lys354Asn		50915949	NM_003221	Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103325	0.76983	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97209	-4.29;-4.29	5.49	5.49	0.81192	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	M	0.88031	2.925	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98745	1.0718	10	0.72032	D	0.01	-16.2826	9.6395	0.39831	0.1598:0.0:0.8402:0.0	.	354	Q92481	AP2B_HUMAN	N	354;363	ENSP00000377265:K354N;ENSP00000263046:K363N	ENSP00000263046:K363N	K	+	3	2	TFAP2B	50915949	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.524000	0.35942	2.590000	0.87494	0.655000	0.94253	AAG		0.552	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221	
PKHD1	5314	broad.mit.edu	37	6	51524753	51524753	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:51524753C>A	ENST00000371117.3	-	61	10446	c.10171G>T	c.(10171-10173)Gaa>Taa	p.E3391*		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3391					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.E3391*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATTTCTGTTCTTCTCTAAAT	0.348																																					p.E3391X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G10171T	6						.						36.0	31.0	32.0					6																	51524753		2203	4299	6502	51632712	SO:0001587	stop_gained	5314	exon61			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10171G>T	6.37:g.51524753C>A	ENSP00000360158:p.Glu3391*		51632712	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	52	19.952039	0.99925	.	.	ENSG00000170927	ENST00000371117	.	.	.	5.38	4.48	0.54585	.	0.226336	0.38005	N	0.001848	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.791	0.52070	0.0:0.9101:0.0:0.0899	.	.	.	.	X	3391	.	ENSP00000360158:E3391X	E	-	1	0	PKHD1	51632712	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.592000	0.53993	1.195000	0.43115	0.655000	0.94253	GAA		0.348	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51900426	51900426	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:51900426C>A	ENST00000371117.3	-	28	3466	c.3191G>T	c.(3190-3192)aGc>aTc	p.S1064I	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1064I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1064	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.S1064I(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTTGAATTGCTTGTAGCGAC	0.448																																					p.S1064I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3191T	6						.						149.0	135.0	140.0					6																	51900426		2203	4300	6503	52008385	SO:0001583	missense	5314	exon28			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3191G>T	6.37:g.51900426C>A	ENSP00000360158:p.Ser1064Ile		52008385	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	8.924	0.961797	0.18583	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.76578	-1.03;-1.03	5.69	4.76	0.60689	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.645707	0.16953	N	0.192831	T	0.55545	0.1927	L	0.48362	1.52	0.09310	N	1	B;B	0.30068	0.225;0.267	B;B	0.30495	0.07;0.116	T	0.47058	-0.9146	10	0.42905	T	0.14	.	8.1564	0.31171	0.1582:0.7635:0.0:0.0782	.	1064;1064	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1064	ENSP00000360158:S1064I;ENSP00000341097:S1064I	ENSP00000341097:S1064I	S	-	2	0	PKHD1	52008385	0.981000	0.34729	0.483000	0.27378	0.089000	0.18198	1.410000	0.34691	2.690000	0.91761	0.650000	0.86243	AGC		0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51924779	51924779	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:51924779C>T	ENST00000371117.3	-	15	1455	c.1180G>A	c.(1180-1182)Gca>Aca	p.A394T	AL590391.1_ENST00000408630.2_RNA|PKHD1_ENST00000340994.4_Missense_Mutation_p.A394T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	394					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A394T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGCTATCTGCCTGAATCCAG	0.438																																					p.A394T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1180A	6	GRCh37	CM051124	PKHD1	M		.						112.0	98.0	103.0					6																	51924779		2203	4300	6503	52032738	SO:0001583	missense	5314	exon15			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1180G>A	6.37:g.51924779C>T	ENSP00000360158:p.Ala394Thr		52032738	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003187	0.93287	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.78003	-1.14;-1.14	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.86615	0.5975	M	0.73598	2.24	0.39165	D	0.962479	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.87463	0.2409	10	0.72032	D	0.01	.	18.6552	0.91450	0.0:1.0:0.0:0.0	.	394;394	P08F94-2;P08F94	.;PKHD1_HUMAN	T	394	ENSP00000360158:A394T;ENSP00000341097:A394T	ENSP00000341097:A394T	A	-	1	0	PKHD1	52032738	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.100000	0.64560	2.719000	0.93026	0.650000	0.86243	GCA		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
PKHD1	5314	broad.mit.edu	37	6	51936958	51936958	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:51936958T>G	ENST00000371117.3	-	8	832	c.557A>C	c.(556-558)aAa>aCa	p.K186T	PKHD1_ENST00000340994.4_Missense_Mutation_p.K186T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	186	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.K186T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGTAACCCATTTGTCTCCTTG	0.393																																					p.K186T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A557C	6						.						146.0	130.0	135.0					6																	51936958		2203	4300	6503	52044917	SO:0001583	missense	5314	exon8			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.557A>C	6.37:g.51936958T>G	ENSP00000360158:p.Lys186Thr		52044917	NM_170724	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	T	8.969	0.972496	0.18736	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87029	-2.0;-2.2	5.55	0.34	0.15985	.	1.121460	0.06514	N	0.738633	T	0.62196	0.2408	L	0.36672	1.1	0.09310	N	1	B;B	0.34015	0.435;0.309	B;B	0.30572	0.117;0.055	T	0.51364	-0.8715	10	0.13470	T	0.59	.	9.0745	0.36513	0.0:0.3989:0.0:0.6011	.	186;186	P08F94-2;P08F94	.;PKHD1_HUMAN	T	186	ENSP00000360158:K186T;ENSP00000341097:K186T	ENSP00000341097:K186T	K	-	2	0	PKHD1	52044917	0.003000	0.15002	0.038000	0.18304	0.604000	0.37047	0.136000	0.15974	-0.089000	0.12484	0.533000	0.62120	AAA		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
GSTA3	2940	broad.mit.edu	37	6	52761619	52761619	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:52761619C>A	ENST00000211122.3	-	7	719	c.654G>T	c.(652-654)aaG>aaT	p.K218N	GSTA3_ENST00000370968.1_Missense_Mutation_p.K168N	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	218					glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.K218N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACCTGAAAATCTTTCTGGCTT	0.428																																					p.K218N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G654T	6						.						84.0	84.0	84.0					6																	52761619		2203	4300	6503	52869578	SO:0001583	missense	2940	exon7			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.654G>T	6.37:g.52761619C>A	ENSP00000211122:p.Lys218Asn		52869578	NM_000847	O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	ENST00000211122.3	37	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	C	4.194	0.034660	0.08101	.	.	ENSG00000174156	ENST00000370968;ENST00000211122	T;T	0.02085	4.46;4.69	3.27	1.42	0.22433	.	0.477230	0.20045	N	0.100439	T	0.00784	0.0026	L	0.57130	1.785	0.21416	N	0.999697	B	0.10296	0.003	B	0.11329	0.006	T	0.48258	-0.9051	10	0.33940	T	0.23	.	2.5279	0.04695	0.2248:0.4697:0.0:0.3055	.	218	Q16772	GSTA3_HUMAN	N	168;218	ENSP00000360007:K168N;ENSP00000211122:K218N	ENSP00000211122:K218N	K	-	3	2	GSTA3	52869578	0.001000	0.12720	0.017000	0.16124	0.002000	0.02628	0.144000	0.16135	0.198000	0.20407	-0.857000	0.03018	AAG		0.428	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1		
GSTA3	2940	broad.mit.edu	37	6	52764809	52764809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:52764809G>A	ENST00000211122.3	-	5	402	c.337C>T	c.(337-339)Cga>Tga	p.R113*	GSTA3_ENST00000370968.1_Nonsense_Mutation_p.R63*	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	113	GST C-terminal.		R -> Q (in dbSNP:rs45602042). {ECO:0000269|Ref.3}.	RP -> PA (in Ref. 1; AAA74634). {ECO:0000305}.	glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.R113*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCCTCAGGTCGACATAAGGGC	0.393																																					p.R113X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C337T	6						.						191.0	174.0	180.0					6																	52764809		2203	4300	6503	52872768	SO:0001587	stop_gained	2940	exon5			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.337C>T	6.37:g.52764809G>A	ENSP00000211122:p.Arg113*		52872768	NM_000847	O43468|Q068V6|Q8WWA8|Q9H415	Nonsense_Mutation	SNP	ENST00000211122.3	37	CCDS4947.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410069	0.42715	.	.	ENSG00000174156	ENST00000370968;ENST00000211122;ENST00000431899	.	.	.	3.91	2.07	0.26955	.	0.290327	0.31461	N	0.007611	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	5.9176	0.19063	0.1923:0.2654:0.5423:0.0	.	.	.	.	X	63;113;63	.	ENSP00000211122:R113X	R	-	1	2	GSTA3	52872768	0.327000	0.24678	0.007000	0.13788	0.005000	0.04900	1.263000	0.33004	0.968000	0.38212	0.591000	0.81541	CGA		0.393	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040933.1		
TINAG	27283	broad.mit.edu	37	6	54254624	54254624	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:54254624G>A	ENST00000259782.4	+	11	1428	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	444					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.E444D(1)|p.E444E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CATGGGGAGAGAATGGCTATT	0.393																																					p.E444E												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(2)	c.G1332A	6						.						132.0	130.0	131.0					6																	54254624		2203	4300	6503	54362583	SO:0001819	synonymous_variant	27283	exon11			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1332G>A	6.37:g.54254624G>A			54362583	NM_014464	Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	CCDS4955.1																																																																																				0.393	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
HCRTR2	3062	broad.mit.edu	37	6	55145214	55145214	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:55145214G>A	ENST00000370862.3	+	6	1413	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	359					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.A359A(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATAGTGCTGCGAATCCAATTA	0.403																																					p.A359A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1077A	6						.						168.0	163.0	165.0					6																	55145214		2203	4300	6503	55253173	SO:0001819	synonymous_variant	3062	exon6			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1077G>A	6.37:g.55145214G>A			55253173	NM_001526	Q5VTM0	Silent	SNP	ENST00000370862.3	37	CCDS4956.1																																																																																				0.403	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
COL21A1	81578	broad.mit.edu	37	6	56033093	56033093	+	Silent	SNP	C	C	T	rs373532211		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:56033093C>T	ENST00000244728.5	-	6	1426	c.1029G>A	c.(1027-1029)acG>acA	p.T343T	COL21A1_ENST00000370819.1_Silent_p.T343T|COL21A1_ENST00000535941.1_Silent_p.T343T	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	343	Laminin G-like.		T -> M (in dbSNP:rs35471617). {ECO:0000269|PubMed:14702039}.		extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.T343T(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATCAAACAACGTCTACAAAA	0.353																																					p.T343T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1029A	6						.	C		0,3650		0,0,1825	48.0	42.0	44.0		1029	-0.9	0.9	6		44	2,8166		0,2,4082	no	coding-synonymous	COL21A1	NM_030820.3		0,2,5907	TT,TC,CC		0.0245,0.0,0.0169		343/958	56033093	2,11816	1825	4084	5909	56141052	SO:0001819	synonymous_variant	81578	exon6			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1029G>A	6.37:g.56033093C>T			56141052	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																				0.353	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
COL21A1	81578	broad.mit.edu	37	6	56035830	56035830	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:56035830C>A	ENST00000244728.5	-	4	1134	c.737G>T	c.(736-738)aGa>aTa	p.R246I	COL21A1_ENST00000370819.1_Missense_Mutation_p.R246I|COL21A1_ENST00000535941.1_Missense_Mutation_p.R246I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	246	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R246I(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAGCTGTATTCTTTTCTTAAC	0.323																																					p.R246I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G737T	6						.						153.0	134.0	140.0					6																	56035830		1812	4071	5883	56143789	SO:0001583	missense	81578	exon4			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.737G>T	6.37:g.56035830C>A	ENSP00000244728:p.Arg246Ile		56143789	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409596	0.42715	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.01902	4.57;4.57;4.57	4.48	3.6	0.41247	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.56097	U	0.000029	T	0.06096	0.0158	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.05099	-1.0906	10	0.72032	D	0.01	.	11.7823	0.52021	0.0:0.9133:0.0:0.0867	.	246;246	Q96P44-3;Q96P44	.;COLA1_HUMAN	I	246	ENSP00000244728:R246I;ENSP00000359855:R246I;ENSP00000444384:R246I	ENSP00000244728:R246I	R	-	2	0	COL21A1	56143789	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.499000	0.45372	2.028000	0.59812	0.591000	0.81541	AGA		0.323	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
COL21A1	81578	broad.mit.edu	37	6	56044911	56044911	+	Silent	SNP	C	C	T	rs375243994	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:56044911C>T	ENST00000244728.5	-	3	502	c.105G>A	c.(103-105)ccG>ccA	p.P35P	COL21A1_ENST00000370819.1_Silent_p.P35P|COL21A1_ENST00000535941.1_Silent_p.P35P	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	35					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P35P(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTAAATCTGTCGGAGCAGTAC	0.333													C|||	8	0.00159744	0.0	0.0	5008	,	,		18844	0.0		0.0	False		,,,				2504	0.0082				p.P35P												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G105A	6						.						29.0	26.0	27.0					6																	56044911		1826	4078	5904	56152870	SO:0001819	synonymous_variant	81578	exon3			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.105G>A	6.37:g.56044911C>T			56152870	NM_030820	A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	CCDS55025.1																																																																																				0.333	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2		
DST	667	broad.mit.edu	37	6	56354333	56354333	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:56354333G>A	ENST00000361203.3	-	81	19879	c.19872C>T	c.(19870-19872)atC>atT	p.I6624I	DST_ENST00000370788.2_Silent_p.I4538I|DST_ENST00000244364.6_Silent_p.I4321I|DST_ENST00000370754.5_Silent_p.I6913I|DST_ENST00000421834.2_Silent_p.I4647I|DST_ENST00000370769.4_Silent_p.I6735I|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.I6409I			Q03001	DYST_HUMAN	dystonin	6620					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.I4321I(1)|p.I6735I(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATCATTTGCGATTTCCAGTT	0.358																																					p.I4321I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C12963T	6						.						227.0	202.0	209.0					6																	56354333		1833	4093	5926	56462292	SO:0001819	synonymous_variant	667	exon67			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19872C>T	6.37:g.56354333G>A			56462292	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																					0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56358951	56358951	+	Missense_Mutation	SNP	C	C	T	rs538940997		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:56358951C>T	ENST00000361203.3	-	78	19298	c.19291G>A	c.(19291-19293)Gaa>Aaa	p.E6431K	DST_ENST00000370788.2_Missense_Mutation_p.E4345K|DST_ENST00000244364.6_Missense_Mutation_p.E4128K|DST_ENST00000370754.5_Missense_Mutation_p.E6720K|DST_ENST00000421834.2_Missense_Mutation_p.E4454K|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.E6542K|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.E6216K			Q03001	DYST_HUMAN	dystonin	6431					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E6542K(1)|p.E4128K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTTTCTTCTTTAGCTTCA	0.353													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18494	0.0		0.0	False		,,,				2504	0.0				p.E4128K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G12382A	6						.						134.0	122.0	126.0					6																	56358951		1833	4087	5920	56466910	SO:0001583	missense	667	exon64			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19291G>A	6.37:g.56358951C>T	ENSP00000354508:p.Glu6431Lys		56466910	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	27.7	4.854125	0.91355	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.56	5.56	0.83823	.	0.000000	0.53938	D	0.000045	T	0.56396	0.1982	L	0.52126	1.63	0.33074	D	0.535711	D;D;P;D;P	0.76494	0.999;0.972;0.942;0.997;0.539	D;D;P;D;B	0.87578	0.998;0.921;0.748;0.994;0.316	T	0.44982	-0.9292	9	0.27082	T	0.32	.	19.5319	0.95232	0.0:1.0:0.0:0.0	.	4454;6542;6720;6540;4128	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	K	4128;6720;6542;4454;6216;4345;6431	ENSP00000244364:E4128K;ENSP00000359790:E6720K;ENSP00000359805:E6542K;ENSP00000400883:E4454K;ENSP00000393645:E6216K;ENSP00000359824:E4345K;ENSP00000354508:E6431K	ENSP00000244364:E4128K	E	-	1	0	DST	56466910	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.028000	0.76470	2.615000	0.88500	0.563000	0.77884	GAA		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56417416	56417416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:56417416G>A	ENST00000361203.3	-	57	15548	c.15541C>T	c.(15541-15543)Cga>Tga	p.R5181*	DST_ENST00000370788.2_Nonsense_Mutation_p.R3095*|DST_ENST00000244364.6_Nonsense_Mutation_p.R2769*|DST_ENST00000370754.5_Nonsense_Mutation_p.R5361*|DST_ENST00000421834.2_Nonsense_Mutation_p.R3095*|DST_ENST00000370769.4_Nonsense_Mutation_p.R5183*|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Nonsense_Mutation_p.R4857*			Q03001	DYST_HUMAN	dystonin	5181					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R2769*(1)|p.R5183*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACATTTCTCGAATGGTATTC	0.418																																					p.R2769X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C8305T	6						.						60.0	56.0	57.0					6																	56417416		1866	4110	5976	56525375	SO:0001587	stop_gained	667	exon42			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15541C>T	6.37:g.56417416G>A	ENSP00000354508:p.Arg5181*		56525375	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	G	56	25.339415	0.99964	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.	.	.	6.17	6.17	0.99709	.	0.000000	0.44902	D	0.000412	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1415	0.81528	0.0:0.0:0.8073:0.1927	.	.	.	.	X	2769;5361;5183;3095;4857;3095;5181	.	ENSP00000244364:R2769X	R	-	1	2	DST	56525375	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.312000	0.43726	2.941000	0.99782	0.655000	0.94253	CGA		0.418	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56457009	56457009	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:56457009T>G	ENST00000361203.3	-	45	12248	c.12241A>C	c.(12241-12243)Aat>Cat	p.N4081H	DST_ENST00000370788.2_Missense_Mutation_p.N1995H|DST_ENST00000244364.6_Missense_Mutation_p.N1669H|DST_ENST00000370754.5_Missense_Mutation_p.N4261H|DST_ENST00000421834.2_Missense_Mutation_p.N1995H|DST_ENST00000370769.4_Missense_Mutation_p.N4083H|DST_ENST00000312431.6_Missense_Mutation_p.N4081H|DST_ENST00000446842.2_Missense_Mutation_p.N3757H			Q03001	DYST_HUMAN	dystonin	4081					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.N4083H(1)|p.N1669H(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTTGAAGATTTTTGGGGTCC	0.443																																					p.N1669H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A5005C	6						.						75.0	73.0	74.0					6																	56457009		1860	4099	5959	56564968	SO:0001583	missense	667	exon30			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12241A>C	6.37:g.56457009T>G	ENSP00000354508:p.Asn4081His		56564968	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	19.59	3.855546	0.71834	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	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	5.8	5.8	0.92144	.	0.000000	0.56097	D	0.000035	T	0.53449	0.1797	L	0.47716	1.5	0.25618	N	0.986436	D;D;D;D;P	0.69078	0.997;0.961;0.961;0.996;0.929	D;P;P;P;P	0.70716	0.97;0.877;0.877;0.897;0.799	T	0.56202	-0.8018	9	0.49607	T	0.09	.	16.1538	0.81644	0.0:0.0:0.0:1.0	.	1995;4083;4261;4081;1669	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	1669;4261;4083;1995;3757;4081;1995;4081	ENSP00000244364:N1669H;ENSP00000359790:N4261H;ENSP00000359805:N4083H;ENSP00000400883:N1995H;ENSP00000393645:N3757H;ENSP00000307959:N4081H;ENSP00000359824:N1995H;ENSP00000354508:N4081H	ENSP00000244364:N1669H	N	-	1	0	DST	56564968	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.642000	0.67888	2.213000	0.71641	0.528000	0.53228	AAT		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
DST	667	broad.mit.edu	37	6	56505384	56505384	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:56505384C>T	ENST00000361203.3	-	14	1421	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	DST_ENST00000370788.2_Missense_Mutation_p.E472K|DST_ENST00000244364.6_Missense_Mutation_p.E146K|DST_ENST00000370754.5_Missense_Mutation_p.E650K|DST_ENST00000421834.2_Missense_Mutation_p.E472K|DST_ENST00000370769.4_Missense_Mutation_p.E472K|DST_ENST00000518935.1_Missense_Mutation_p.E146K|DST_ENST00000312431.6_Missense_Mutation_p.E472K|DST_ENST00000370765.6_Missense_Mutation_p.E146K|DST_ENST00000446842.2_Missense_Mutation_p.E146K			Q03001	DYST_HUMAN	dystonin	472					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.E146K(3)|p.E650K(1)|p.E472K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCCATAATTTCGTCACGCAGT	0.378																																					p.E146K												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.G436A	6						.						75.0	75.0	75.0					6																	56505384		2203	4300	6503	56613343	SO:0001583	missense	667	exon4			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1414G>A	6.37:g.56505384C>T	ENSP00000354508:p.Glu472Lys		56613343	NM_015548	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	32	5.115045	0.94339	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935;ENST00000449297	D;D;D;D;D;D;D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.65	5.65	0.86999	.	0.106321	0.41294	D	0.000908	D	0.94663	0.8279	L	0.54323	1.7	0.33074	D	0.535711	P;P;D;P;D;P;D;D;P;B	0.76494	0.871;0.727;0.976;0.727;0.995;0.477;0.999;0.997;0.727;0.417	B;B;B;B;P;B;D;P;B;B	0.64042	0.053;0.078;0.27;0.078;0.749;0.054;0.921;0.858;0.078;0.07	D	0.92103	0.5690	9	0.30854	T	0.27	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	501;472;472;650;588;146;146;146;472;146	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	K	146;650;472;472;146;472;472;472;146;512;146;146;650	ENSP00000244364:E146K;ENSP00000359790:E650K;ENSP00000359805:E472K;ENSP00000400883:E472K;ENSP00000393645:E146K;ENSP00000307959:E472K;ENSP00000359824:E472K;ENSP00000354508:E472K;ENSP00000404924:E146K;ENSP00000431030:E512K;ENSP00000359801:E146K;ENSP00000431003:E146K;ENSP00000393082:E650K	ENSP00000244364:E146K	E	-	1	0	DST	56613343	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.500000	0.60387	2.941000	0.99782	0.655000	0.94253	GAA		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
ZNF451	26036	broad.mit.edu	37	6	57012230	57012230	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:57012230G>T	ENST00000370706.4	+	10	1591	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.M449I|ZNF451_ENST00000357489.3_Missense_Mutation_p.M449I|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M449I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAAAGAAGATGAATTTAAAAG	0.343																																					p.M449I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1347T	6						.						48.0	50.0	49.0					6																	57012230		2203	4299	6502	57120189	SO:0001583	missense	26036	exon10			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1347G>T	6.37:g.57012230G>T	ENSP00000359740:p.Met449Ile		57120189	NM_015555	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	5.824	0.336306	0.11013	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.06294	3.32;3.32;3.32	5.3	0.875	0.19130	.	0.617780	0.17768	N	0.162681	T	0.01870	0.0059	L	0.44542	1.39	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.36016	-0.9765	10	0.36615	T	0.2	-0.1583	5.4692	0.16660	0.2063:0.0:0.4298:0.3639	.	449;449;449;449	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	I	449	ENSP00000359740:M449I;ENSP00000350083:M449I;ENSP00000421645:M449I	ENSP00000350083:M449I	M	+	3	0	ZNF451	57120189	0.999000	0.42202	0.997000	0.53966	0.993000	0.82548	1.112000	0.31172	0.222000	0.20900	0.650000	0.86243	ATG		0.343	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555	
RAB23	51715	broad.mit.edu	37	6	57075051	57075051	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:57075051C>T	ENST00000317483.3	-	2	747	c.128G>A	c.(127-129)gGa>gAa	p.G43E	RAB23_ENST00000468148.1_Missense_Mutation_p.G43E	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	43					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G43E(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAAATCAACTCCAATGGTTTT	0.353																																					p.G43E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G128A	6						.						142.0	127.0	132.0					6																	57075051		2202	4300	6502	57183010	SO:0001583	missense	51715	exon2			AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.128G>A	6.37:g.57075051C>T	ENSP00000320413:p.Gly43Glu		57183010	NM_016277	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	37	CCDS4962.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041828	0.93685	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	D;D	0.83250	-1.7;-1.7	5.55	5.55	0.83447	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89563	0.6751	M	0.66560	2.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90072	0.4164	10	0.87932	D	0	0.5387	19.4985	0.95083	0.0:1.0:0.0:0.0	.	43	Q9ULC3	RAB23_HUMAN	E	43	ENSP00000320413:G43E;ENSP00000417610:G43E	ENSP00000320413:G43E	G	-	2	0	RAB23	57183010	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.814000	0.86154	2.602000	0.87976	0.655000	0.94253	GGA		0.353	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1		
PRIM2	5558	broad.mit.edu	37	6	57185271	57185271	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:57185271A>C	ENST00000607273.1	+	3	258	c.171A>C	c.(169-171)gaA>gaC	p.E57D	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	57					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.E57D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AATCAGTTGAAAATCTTGGAG	0.328																																					p.E57D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A171C	6						.						50.0	49.0	49.0					6																	57185271		1804	4072	5876	57293230	SO:0001583	missense	5558	exon3				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.171A>C	6.37:g.57185271A>C	ENSP00000475738:p.Glu57Asp		57293230	NM_000947	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000607273.1	37																																																																																					0.328	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000947	
PHF3	23469	broad.mit.edu	37	6	64394185	64394185	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:64394185T>C	ENST00000262043.3	+	4	902	c.562T>C	c.(562-564)Tca>Cca	p.S188P	PHF3_ENST00000509330.1_Missense_Mutation_p.S188P|PHF3_ENST00000393387.1_Missense_Mutation_p.S188P			Q92576	PHF3_HUMAN	PHD finger protein 3	188					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S188P(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTATGTATGTCACTGAAACC	0.398																																					p.S188P	GBM(135;136 1820 29512 34071 46235)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T562C	6						.						175.0	161.0	166.0					6																	64394185		2203	4300	6503	64452144	SO:0001583	missense	23469	exon3			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.562T>C	6.37:g.64394185T>C	ENSP00000262043:p.Ser188Pro		64452144	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.620597	0.00828	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.45276	1.97;1.89;2.22;1.9;0.9;2.22	5.92	0.884	0.19182	.	0.518686	0.14534	N	0.313673	T	0.11324	0.0276	L	0.46157	1.445	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.11329	0.001;0.006	T	0.32025	-0.9922	10	0.21540	T	0.41	-0.7272	3.1551	0.06502	0.1061:0.3135:0.1085:0.4719	.	188;188	Q92576;D6R9X2	PHF3_HUMAN;.	P	2;100;188;141;188;188	ENSP00000424694:S2P;ENSP00000425227:S100P;ENSP00000262043:S188P;ENSP00000424078:S141P;ENSP00000422841:S188P;ENSP00000377048:S188P	ENSP00000262043:S188P	S	+	1	0	PHF3	64452144	0.000000	0.05858	0.008000	0.14137	0.014000	0.08584	-0.206000	0.09398	-0.068000	0.12953	-1.162000	0.01777	TCA		0.398	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
PHF3	23469	broad.mit.edu	37	6	64421713	64421713	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:64421713G>T	ENST00000262043.3	+	16	4569	c.4229G>T	c.(4228-4230)aGa>aTa	p.R1410I	PHF3_ENST00000393387.1_Missense_Mutation_p.R1410I			Q92576	PHF3_HUMAN	PHD finger protein 3	1410					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R1410I(2)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAAGCAGAGAAATAAACCT	0.358																																					p.R1410I	GBM(135;136 1820 29512 34071 46235)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4229T	6						.						91.0	102.0	98.0					6																	64421713		2201	4299	6500	64479672	SO:0001583	missense	23469	exon15			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4229G>T	6.37:g.64421713G>T	ENSP00000262043:p.Arg1410Ile		64479672	NM_015153	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666585	0.47677	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.54071	0.59;1.78;1.78	5.95	5.95	0.96441	.	0.000000	0.42548	D	0.000693	T	0.61236	0.2331	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.56563	0.801	T	0.60005	-0.7347	10	0.52906	T	0.07	-24.2187	20.3854	0.98941	0.0:0.0:1.0:0.0	.	1410	Q92576	PHF3_HUMAN	I	679;1410;1410	ENSP00000425338:R679I;ENSP00000262043:R1410I;ENSP00000377048:R1410I	ENSP00000262043:R1410I	R	+	2	0	PHF3	64479672	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.666000	0.54540	2.825000	0.97269	0.655000	0.94253	AGA		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		
EYS	346007	broad.mit.edu	37	6	66044879	66044879	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:66044879C>A	ENST00000370621.3	-	11	2286	c.1760G>T	c.(1759-1761)aGa>aTa	p.R587I	EYS_ENST00000370616.2_Missense_Mutation_p.R587I|EYS_ENST00000393380.2_Missense_Mutation_p.R587I|EYS_ENST00000370618.3_Missense_Mutation_p.R587I|EYS_ENST00000342421.5_Missense_Mutation_p.R587I|EYS_ENST00000503581.1_Missense_Mutation_p.R587I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	587	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R587I(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATACCTGGGTCTATTAATTTC	0.308																																					p.R587I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1760T	6						.						145.0	136.0	139.0					6																	66044879		2203	4300	6503	66101600	SO:0001583	missense	346007	exon10				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1760G>T	6.37:g.66044879C>A	ENSP00000359655:p.Arg587Ile		66101600	NM_198283	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	c	7.877	0.729328	0.15507	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;D;D;D	0.81659	1.96;1.96;1.96;-1.52;-1.52;-1.52	3.41	-6.82	0.01698	.	.	.	.	.	T	0.28333	0.0700	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.04013	0.001;0.001;0.0	T	0.09058	-1.0692	9	0.54805	T	0.06	.	0.7521	0.00992	0.3061:0.1095:0.2028:0.3816	.	587;587;587	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	587	ENSP00000424243:R587I;ENSP00000359655:R587I;ENSP00000359650:R587I;ENSP00000377042:R587I;ENSP00000341818:R587I;ENSP00000359652:R587I	ENSP00000341818:R587I	R	-	2	0	EYS	66101600	0.000000	0.05858	0.000000	0.03702	0.637000	0.38172	-1.275000	0.02817	-3.317000	0.00189	-0.479000	0.04858	AGA		0.308	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
BAI3	577	broad.mit.edu	37	6	69949045	69949045	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:69949045T>G	ENST00000370598.1	+	20	3562	c.2741T>G	c.(2740-2742)cTa>cGa	p.L914R	BAI3_ENST00000238918.8_Missense_Mutation_p.L120R	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	914					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L914R(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCCATAATACTAATTAACTTC	0.353																																					p.L914R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2741G	6						.						182.0	177.0	179.0					6																	69949045		2203	4297	6500	70005766	SO:0001583	missense	577	exon20			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2741T>G	6.37:g.69949045T>G	ENSP00000359630:p.Leu914Arg		70005766	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261988	0.80358	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.49139	0.79;0.79	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	T	0.63117	0.2484	M	0.84156	2.68	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.97110	0.998;0.995;1.0	T	0.65961	-0.6041	10	0.37606	T	0.19	.	14.9222	0.70847	0.0:0.0:0.0:1.0	.	120;914;914	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	R	914;120	ENSP00000359630:L914R;ENSP00000238918:L120R	ENSP00000238918:L120R	L	+	2	0	BAI3	70005766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.913000	0.55393	0.533000	0.62120	CTA		0.353	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
BAI3	577	broad.mit.edu	37	6	70071043	70071043	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:70071043A>G	ENST00000370598.1	+	29	4699	c.3878A>G	c.(3877-3879)gAc>gGc	p.D1293G	BAI3_ENST00000546190.1_Missense_Mutation_p.D257G|BAI3_ENST00000238918.8_Missense_Mutation_p.D499G	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1293					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D1293G(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAGGGGCTGACATGGACATA	0.378																																					p.D1293G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3878G	6						.						76.0	74.0	75.0					6																	70071043		2203	4298	6501	70127764	SO:0001583	missense	577	exon29			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3878A>G	6.37:g.70071043A>G	ENSP00000359630:p.Asp1293Gly		70127764	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.576420	0.45902	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.07114	3.22;3.22;3.22	5.44	5.44	0.79542	.	0.047201	0.85682	D	0.000000	T	0.07098	0.0180	L	0.54323	1.7	0.50467	D	0.999873	P;P	0.46395	0.759;0.877	B;B	0.43194	0.202;0.411	T	0.06338	-1.0832	10	0.59425	D	0.04	.	15.7958	0.78409	1.0:0.0:0.0:0.0	.	499;1293	B7Z356;O60242	.;BAI3_HUMAN	G	1293;499;257	ENSP00000359630:D1293G;ENSP00000238918:D499G;ENSP00000441821:D257G	ENSP00000238918:D499G	D	+	2	0	BAI3	70127764	1.000000	0.71417	0.983000	0.44433	0.614000	0.37383	8.678000	0.91211	2.198000	0.70561	0.482000	0.46254	GAC		0.378	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
COL9A1	1297	broad.mit.edu	37	6	70950406	70950406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:70950406C>A	ENST00000357250.6	-	32	2223	c.2065G>T	c.(2065-2067)Gaa>Taa	p.E689*	COL9A1_ENST00000370499.4_Nonsense_Mutation_p.E446*|COL9A1_ENST00000320755.7_Nonsense_Mutation_p.E446*|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	689	Collagen-like 7.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.E689*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCCCCCTTTCTCCTGCTTCA	0.323																																					p.E689X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2065T	6						.						80.0	98.0	92.0					6																	70950406		2203	4300	6503	71007127	SO:0001587	stop_gained	1297	exon32				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2065G>T	6.37:g.70950406C>A	ENSP00000349790:p.Glu689*		71007127	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373543	0.42105	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.61	0.665	0.17896	.	0.783406	0.12722	N	0.444649	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	2.9846	0.05964	0.1127:0.4822:0.2187:0.1864	.	.	.	.	X	689;446;446	.	ENSP00000315252:E446X	E	-	1	0	COL9A1	71007127	0.995000	0.38212	0.043000	0.18650	0.299000	0.27559	1.598000	0.36740	-0.177000	0.10690	-0.897000	0.02905	GAA		0.323	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
COL9A1	1297	broad.mit.edu	37	6	71004056	71004056	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:71004056C>T	ENST00000357250.6	-	5	668	c.510G>A	c.(508-510)tcG>tcA	p.S170S	COL9A1_ENST00000370496.3_Silent_p.S170S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	170	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.S170S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGACAAATTCGAAAAGGCTG	0.428																																					p.S170S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G510A	6						.						136.0	134.0	134.0					6																	71004056		2203	4300	6503	71060777	SO:0001819	synonymous_variant	1297	exon5				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.510G>A	6.37:g.71004056C>T			71060777	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	CCDS4971.1																																																																																				0.428	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
COL9A1	1297	broad.mit.edu	37	6	71004213	71004213	+	Missense_Mutation	SNP	C	C	T	rs143848379	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:71004213C>T	ENST00000357250.6	-	5	511	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	COL9A1_ENST00000370496.3_Missense_Mutation_p.R118Q	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	118	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.R118Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCAGTCATTCGAAACGTCGT	0.398													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21016	0.0		0.0	False		,,,				2504	0.0				p.R118Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G353A	6						.	C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	124.0	129.0	127.0		353	5.4	1.0	6	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL9A1	NM_001851.4	43	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	probably-damaging	118/922	71004213	5,13001	2203	4300	6503	71060934	SO:0001583	missense	1297	exon5				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.353G>A	6.37:g.71004213C>T	ENSP00000349790:p.Arg118Gln		71060934	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	20.6	4.014223	0.75161	9.08E-4	1.16E-4	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.03358	3.96;3.96	5.44	5.44	0.79542	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.19087	0.0458	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.03166	-1.1065	10	0.72032	D	0.01	.	19.6327	0.95717	0.0:1.0:0.0:0.0	.	118	P20849	CO9A1_HUMAN	Q	118	ENSP00000349790:R118Q;ENSP00000359527:R118Q	ENSP00000349790:R118Q	R	-	2	0	COL9A1	71060934	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	7.304000	0.78882	2.701000	0.92244	0.650000	0.86243	CGA		0.398	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
OGFRL1	79627	broad.mit.edu	37	6	72011675	72011675	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:72011675G>A	ENST00000370435.4	+	7	1413	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	427						membrane (GO:0016020)	receptor activity (GO:0004872)	p.E427K(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TGAGAATAACGAAGAAGGTGG	0.378																																					p.E427K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1279A	6						.						95.0	104.0	101.0					6																	72011675		2203	4300	6503	72068396	SO:0001583	missense	79627	exon7				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1279G>A	6.37:g.72011675G>A	ENSP00000359464:p.Glu427Lys		72068396	NM_024576	Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	G	2.915	-0.224478	0.06061	.	.	ENSG00000119900	ENST00000370435	T	0.46451	0.87	5.5	3.7	0.42460	.	0.400623	0.21222	N	0.078132	T	0.15132	0.0365	L	0.45581	1.43	0.09310	N	1	B	0.27971	0.196	B	0.22601	0.04	T	0.11012	-1.0605	10	0.32370	T	0.25	-3.9537	9.0796	0.36542	0.0817:0.1489:0.7694:0.0	.	427	Q5TC84	OGRL1_HUMAN	K	427	ENSP00000359464:E427K	ENSP00000359464:E427K	E	+	1	0	OGFRL1	72068396	0.997000	0.39634	0.004000	0.12327	0.001000	0.01503	2.881000	0.48538	0.681000	0.31386	-0.302000	0.09304	GAA		0.378	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576	
RIMS1	22999	broad.mit.edu	37	6	73000541	73000541	+	Silent	SNP	G	G	A	rs373917034		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:73000541G>A	ENST00000521978.1	+	25	3714	c.3714G>A	c.(3712-3714)gcG>gcA	p.A1238A	RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000348717.5_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1238					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.A1238A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAGGGTCGGCGCCACCTTCTC	0.547																																					p.A1238A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3714A	6						.	G	,,,,	1,4255		0,1,2127	74.0	77.0	76.0		,,,,3714	2.2	1.0	6		76	1,8459		0,1,4229	no	intron,intron,intron,intron,coding-synonymous	RIMS1	NM_001168407.1,NM_001168408.1,NM_001168409.1,NM_001168410.1,NM_014989.4	,,,,	0,2,6356	AA,AG,GG		0.0118,0.0235,0.0157	,,,,	,,,,1238/1693	73000541	2,12714	2128	4230	6358	73057262	SO:0001819	synonymous_variant	22999	exon25			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3714G>A	6.37:g.73000541G>A			73057262	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	CCDS47449.1																																																																																				0.547	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
KCNQ5	56479	broad.mit.edu	37	6	73751664	73751664	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:73751664C>T	ENST00000370398.1	+	3	604	c.495C>T	c.(493-495)ttC>ttT	p.F165F	KCNQ5_ENST00000414165.2_Silent_p.F165F|KCNQ5_ENST00000342056.2_Silent_p.F165F|KCNQ5_ENST00000403813.2_Silent_p.F165F|KCNQ5_ENST00000402622.2_Silent_p.F165F|KCNQ5_ENST00000355635.3_Silent_p.F165F|KCNQ5_ENST00000355194.4_Silent_p.F165F|KCNQ5_ENST00000370392.1_Silent_p.F165F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	165					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.F165F(3)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTTAGGAGTTCGTGATGATTG	0.413																																					p.F165F	GBM(142;1375 1859 14391 23261 44706)											.	.	3	Substitution - coding silent(3)	endometrium(2)|large_intestine(1)	c.C495T	6						.						349.0	318.0	329.0					6																	73751664		2203	4300	6503	73808385	SO:0001819	synonymous_variant	56479	exon3			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.495C>T	6.37:g.73751664C>T			73808385	NM_001160133	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	CCDS4976.1																																																																																				0.413	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
KCNQ5	56479	broad.mit.edu	37	6	73751728	73751728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:73751728C>T	ENST00000370398.1	+	3	668	c.559C>T	c.(559-561)Cga>Tga	p.R187*	KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000342056.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.R187*|KCNQ5_ENST00000370392.1_Nonsense_Mutation_p.R187*	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	187					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)	p.R187*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TTGCTGTTGTCGATATAGAGG	0.428																																					p.R187X	GBM(142;1375 1859 14391 23261 44706)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C559T	6						.						352.0	319.0	330.0					6																	73751728		2203	4300	6503	73808449	SO:0001587	stop_gained	56479	exon3			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.559C>T	6.37:g.73751728C>T	ENSP00000359425:p.Arg187*		73808449	NM_001160133	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Nonsense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	C	39	7.547912	0.98352	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915;ENST00000441538	.	.	.	6.17	6.17	0.99709	.	0.064316	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	187;187;187;187;187;187;187;187;187;25;24	.	ENSP00000345055:R187X	R	+	1	2	KCNQ5	73808449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	2.941000	0.99782	0.655000	0.94253	CGA		0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
CD109	135228	broad.mit.edu	37	6	74520848	74520848	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:74520848G>T	ENST00000287097.5	+	28	3792	c.3680G>T	c.(3679-3681)cGc>cTc	p.R1227L	CD109_ENST00000437994.2_Intron|CD109_ENST00000422508.2_Missense_Mutation_p.R1150L			Q6YHK3	CD109_HUMAN	CD109 molecule	1227					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.R1227L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACACACAACCGCTTACTCCTT	0.428																																					p.R1227L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3680T	6						.						93.0	86.0	88.0					6																	74520848		2203	4300	6503	74577569	SO:0001583	missense	135228	exon28			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3680G>T	6.37:g.74520848G>T	ENSP00000287097:p.Arg1227Leu		74577569	NM_133493	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258515	0.23051	.	.	ENSG00000156535	ENST00000422508;ENST00000287097	T;T	0.25579	2.0;1.79	5.2	4.3	0.51218	.	0.180440	0.51477	N	0.000083	T	0.12347	0.0300	L	0.56769	1.78	0.27262	N	0.958617	B;B	0.13145	0.007;0.004	B;B	0.14578	0.011;0.01	T	0.13495	-1.0507	10	0.27785	T	0.31	.	14.9064	0.70724	0.0:0.0:0.8557:0.1443	.	1150;1227	Q6YHK3-2;Q6YHK3	.;CD109_HUMAN	L	1150;1227	ENSP00000404475:R1150L;ENSP00000287097:R1227L	ENSP00000287097:R1227L	R	+	2	0	CD109	74577569	1.000000	0.71417	0.994000	0.49952	0.453000	0.32348	1.517000	0.35867	1.352000	0.45808	0.655000	0.94253	CGC		0.428	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493	
COL12A1	1303	broad.mit.edu	37	6	75839943	75839943	+	Missense_Mutation	SNP	C	C	T	rs34336755		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:75839943C>T	ENST00000322507.8	-	37	6383	c.6074G>A	c.(6073-6075)cGc>cAc	p.R2025H	COL12A1_ENST00000345356.6_Missense_Mutation_p.R861H|COL12A1_ENST00000416123.2_Missense_Mutation_p.R2025H|COL12A1_ENST00000483888.2_Missense_Mutation_p.R2025H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2025	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R2025H(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGGTCCACTGCGTGGTACTAA	0.448													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18160	0.0		0.0	False		,,,				2504	0.0				p.R2025H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G6074A	6						.						77.0	76.0	77.0					6																	75839943		1876	4102	5978	75896663	SO:0001583	missense	1303	exon37			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6074G>A	6.37:g.75839943C>T	ENSP00000325146:p.Arg2025His		75896663	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	28.0	4.881342	0.91740	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.063541	0.64402	D	0.000009	T	0.64148	0.2572	M	0.68952	2.095	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	T	0.60611	-0.7229	10	0.49607	T	0.09	.	20.5407	0.99260	0.0:1.0:0.0:0.0	rs34336755	861;2025	Q99715-2;Q99715	.;COCA1_HUMAN	H	2025;2025;861;2025;2025	ENSP00000325146:R2025H;ENSP00000305147:R861H;ENSP00000412864:R2025H;ENSP00000421216:R2025H	ENSP00000325146:R2025H	R	-	2	0	COL12A1	75896663	1.000000	0.71417	0.987000	0.45799	0.940000	0.58332	7.336000	0.79245	2.865000	0.98341	0.655000	0.94253	CGC		0.448	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
COL12A1	1303	broad.mit.edu	37	6	75893170	75893170	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:75893170T>C	ENST00000322507.8	-	10	1796	c.1487A>G	c.(1486-1488)aAa>aGa	p.K496R	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.K496R|COL12A1_ENST00000483888.2_Missense_Mutation_p.K496R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	496	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.K496R(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTGGTGAATTTTTTCAAAGT	0.363																																					p.K496R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1487G	6						.						86.0	84.0	85.0					6																	75893170		1832	4070	5902	75949890	SO:0001583	missense	1303	exon10			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1487A>G	6.37:g.75893170T>C	ENSP00000325146:p.Lys496Arg		75949890	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	7.309	0.614624	0.14129	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.78126	-1.15;-1.15;-1.15	5.56	5.56	0.83823	von Willebrand factor, type A (3);	0.239262	0.35936	N	0.002899	T	0.28797	0.0714	N	0.03999	-0.3	0.22835	N	0.998673	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15093	-1.0449	10	0.09338	T	0.73	.	6.1934	0.20536	0.0:0.197:0.0:0.803	.	496;496	D6RGG3;Q99715	.;COCA1_HUMAN	R	496	ENSP00000325146:K496R;ENSP00000412864:K496R;ENSP00000421216:K496R	ENSP00000325146:K496R	K	-	2	0	COL12A1	75949890	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.243000	0.51392	2.241000	0.73720	0.533000	0.62120	AAA		0.363	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
TMEM30A	55754	broad.mit.edu	37	6	75968619	75968619	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:75968619A>C	ENST00000230461.6	-	6	1098	c.769T>G	c.(769-771)Ttt>Gtt	p.F257V	TMEM30A_ENST00000370050.5_Missense_Mutation_p.F138V|TMEM30A_ENST00000475111.2_Missense_Mutation_p.F221V	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	257					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.F257V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAACAATAAAATCCTCATTT	0.398																																					p.F257V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T769G	6						.						87.0	82.0	84.0					6																	75968619		2203	4300	6503	76025339	SO:0001583	missense	55754	exon6			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.769T>G	6.37:g.75968619A>C	ENSP00000230461:p.Phe257Val		76025339	NM_018247	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.798573	0.90538	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.54	5.54	0.83059	.	0.047218	0.85682	D	0.000000	T	0.81302	0.4794	H	0.94462	3.54	0.80722	D	1	P;P	0.50369	0.858;0.934	P;P	0.56042	0.686;0.79	D	0.86909	0.2059	9	0.87932	D	0	.	15.6657	0.77227	1.0:0.0:0.0:0.0	.	221;257	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	V	257;241;138;221	.	ENSP00000230461:F257V	F	-	1	0	TMEM30A	76025339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.105000	0.64084	0.482000	0.46254	TTT		0.398	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	NM_018247	
FILIP1	27145	broad.mit.edu	37	6	76072475	76072475	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:76072475C>A	ENST00000237172.7	-	3	765	c.435G>T	c.(433-435)gaG>gaT	p.E145D	FILIP1_ENST00000393004.2_Missense_Mutation_p.E145D|RP11-415D17.3_ENST00000609544.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA|RP11-415D17.3_ENST00000419709.1_RNA|FILIP1_ENST00000370020.1_Missense_Mutation_p.E46D|RP11-415D17.3_ENST00000591821.2_RNA|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000440220.1_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	145								p.E145D(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AAATCGGTTTCTCATAGACAT	0.468																																					p.E145D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G435T	6						.						86.0	85.0	85.0					6																	76072475		2203	4300	6503	76129195	SO:0001583	missense	27145	exon3			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.435G>T	6.37:g.76072475C>A	ENSP00000237172:p.Glu145Asp		76129195	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214210	0.58452	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.48201	0.82;0.82;0.82	5.99	4.21	0.49690	Cortactin-binding protein-2, N-terminal (1);	0.051783	0.85682	D	0.000000	T	0.50752	0.1634	M	0.64170	1.965	0.58432	D	0.999995	B;P;P	0.52692	0.217;0.955;0.944	B;P;P	0.58928	0.193;0.848;0.763	T	0.52487	-0.8569	10	0.46703	T	0.11	-26.5141	15.5318	0.75970	0.0:0.8757:0.0:0.1243	.	145;145;145	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	D	145;145;46	ENSP00000376728:E145D;ENSP00000237172:E145D;ENSP00000359037:E46D	ENSP00000237172:E145D	E	-	3	2	FILIP1	76129195	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	3.315000	0.51951	0.439000	0.26476	-0.797000	0.03246	GAG		0.468	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
SENP6	26054	broad.mit.edu	37	6	76405579	76405579	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:76405579C>A	ENST00000447266.2	+	17	2613	c.2135C>A	c.(2134-2136)tCt>tAt	p.S712Y	SENP6_ENST00000541192.1_Missense_Mutation_p.S308Y|SENP6_ENST00000370014.3_Missense_Mutation_p.S712Y|SENP6_ENST00000370010.2_Missense_Mutation_p.S705Y	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	712	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.S712Y(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATATTCAGTTCTTTTTTCTAT	0.308																																					p.S712Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2135A	6						.						76.0	76.0	76.0					6																	76405579		1821	4074	5895	76462299	SO:0001583	missense	26054	exon17				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2135C>A	6.37:g.76405579C>A	ENSP00000402527:p.Ser712Tyr		76462299	NM_015571	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676130	0.88445	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000447266;ENST00000541192	T;T;T;T	0.36520	1.31;1.31;1.31;1.25	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76119	-0.3076	10	0.87932	D	0	-16.0663	20.3552	0.98837	0.0:1.0:0.0:0.0	.	705;712	Q9GZR1-2;Q9GZR1	.;SENP6_HUMAN	Y	705;712;712;308	ENSP00000359027:S705Y;ENSP00000359031:S712Y;ENSP00000402527:S712Y;ENSP00000441715:S308Y	ENSP00000359027:S705Y	S	+	2	0	SENP6	76462299	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.556000	0.73932	2.812000	0.96745	0.557000	0.71058	TCT		0.308	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	
MYO6	4646	broad.mit.edu	37	6	76596608	76596608	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:76596608A>C	ENST00000369977.3	+	25	2694	c.2555A>C	c.(2554-2556)aAa>aCa	p.K852T	MYO6_ENST00000369985.4_Missense_Mutation_p.K852T|MYO6_ENST00000369975.1_Missense_Mutation_p.K852T|MYO6_ENST00000369981.3_Missense_Mutation_p.K852T	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	852					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K852T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CGACTTGATAAATTTAATGAG	0.338																																					p.K852T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2555C	6						.						86.0	90.0	89.0					6																	76596608		2203	4299	6502	76653328	SO:0001583	missense	4646	exon25			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2555A>C	6.37:g.76596608A>C	ENSP00000358994:p.Lys852Thr		76653328	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	9.414	1.081173	0.20309	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;T	0.89485	-2.51;-2.52;-2.51;1.97	5.93	2.14	0.27477	.	0.219310	0.46145	D	0.000318	T	0.68366	0.2993	L	0.40543	1.245	0.41628	D	0.989005	P;B	0.37781	0.608;0.001	B;B	0.32465	0.146;0.003	T	0.63603	-0.6600	10	0.25751	T	0.34	.	7.1219	0.25450	0.7463:0.1239:0.1299:0.0	.	852;852	Q9UM54-2;Q9UM54-1	.;.	T	852	ENSP00000358998:K852T;ENSP00000359002:K852T;ENSP00000358994:K852T;ENSP00000358992:K852T	ENSP00000358992:K852T	K	+	2	0	MYO6	76653328	1.000000	0.71417	0.582000	0.28627	0.131000	0.20780	3.204000	0.51082	0.506000	0.28125	0.533000	0.62120	AAA		0.338	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
MYO6	4646	broad.mit.edu	37	6	76623878	76623878	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:76623878G>A	ENST00000369977.3	+	34	3677	c.3538G>A	c.(3538-3540)Gac>Aac	p.D1180N	MYO6_ENST00000369985.4_Missense_Mutation_p.D1157N|MYO6_ENST00000369975.1_Missense_Mutation_p.D1148N|MYO6_ENST00000369981.3_Missense_Mutation_p.D1181N	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	1189					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.D1180N(2)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCGCCCTGCCGACCAGTACAA	0.532																																					p.D1180N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3538A	6						.						140.0	146.0	144.0					6																	76623878		2203	4300	6503	76680598	SO:0001583	missense	4646	exon34			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.3538G>A	6.37:g.76623878G>A	ENSP00000358994:p.Asp1180Asn		76680598	NM_004999	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286798	0.80803	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.89343	-2.47;-2.46;-2.43;-2.5	5.89	5.89	0.94794	.	0.046341	0.85682	D	0.000000	D	0.91229	0.7236	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	0.964;1.0	B;D	0.87578	0.364;0.998	D	0.89609	0.3840	10	0.40728	T	0.16	.	20.2437	0.98389	0.0:0.0:1.0:0.0	.	1157;1180	Q9UM54-2;Q9UM54-1	.;.	N	1190;1181;1157;1180;1148	ENSP00000358998:D1181N;ENSP00000359002:D1157N;ENSP00000358994:D1180N;ENSP00000358992:D1148N	ENSP00000358992:D1148N	D	+	1	0	MYO6	76680598	1.000000	0.71417	0.969000	0.41365	0.981000	0.71138	9.443000	0.97568	2.778000	0.95560	0.655000	0.94253	GAC		0.532	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
PHIP	55023	broad.mit.edu	37	6	79665344	79665344	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:79665344A>C	ENST00000275034.4	-	33	4005	c.3838T>G	c.(3838-3840)Ttg>Gtg	p.L1280V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1280					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.L1280V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAATCAGACAAAACTTTCTTC	0.259																																					p.L1280V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3838G	6						.						32.0	33.0	33.0					6																	79665344		2166	4259	6425	79722063	SO:0001583	missense	55023	exon33			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3838T>G	6.37:g.79665344A>C	ENSP00000275034:p.Leu1280Val		79722063	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	A	7.251	0.603238	0.13939	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.40225	1.04	5.3	-1.49	0.08718	.	0.000000	0.53938	D	0.000043	T	0.11110	0.0271	L	0.48642	1.525	0.27687	N	0.946254	B;B	0.15473	0.013;0.013	B;B	0.14578	0.011;0.011	T	0.19321	-1.0309	9	.	.	.	-2.7513	3.6723	0.08279	0.4378:0.0:0.2991:0.2631	.	1280;1280	A7J992;Q8WWQ0	.;PHIP_HUMAN	V	1280;6	ENSP00000275034:L1280V	.	L	-	1	2	PHIP	79722063	1.000000	0.71417	0.626000	0.29213	0.690000	0.40134	3.252000	0.51461	0.077000	0.16863	0.374000	0.22700	TTG		0.259	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
PHIP	55023	broad.mit.edu	37	6	79692630	79692630	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:79692630T>G	ENST00000275034.4	-	23	2909	c.2742A>C	c.(2740-2742)aaA>aaC	p.K914N	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	914	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.K914N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		tgggcttctttttctttggtg	0.294																																					p.K914N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2742C	6						.						52.0	48.0	49.0					6																	79692630		2200	4293	6493	79749349	SO:0001583	missense	55023	exon23			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2742A>C	6.37:g.79692630T>G	ENSP00000275034:p.Lys914Asn		79749349	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705619	0.68615	.	.	ENSG00000146247	ENST00000275034	T	0.43294	0.95	4.95	4.95	0.65309	.	0.066204	0.64402	D	0.000009	T	0.36608	0.0973	L	0.44542	1.39	0.58432	D	0.999995	D;D	0.69078	0.997;0.997	P;P	0.60789	0.879;0.879	T	0.25117	-1.0141	9	.	.	.	-3.203	8.426	0.32729	0.0:0.0986:0.0:0.9014	.	914;914	A7J992;Q8WWQ0	.;PHIP_HUMAN	N	914	ENSP00000275034:K914N	.	K	-	3	2	PHIP	79749349	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.551000	0.60740	1.856000	0.53863	0.377000	0.23210	AAA		0.294	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
PHIP	55023	broad.mit.edu	37	6	79727259	79727259	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:79727259G>A	ENST00000275034.4	-	11	1203	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	346					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.R346W(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AAATAAACCCGAATAATATGA	0.323																																					p.R346W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1036T	6						.						44.0	45.0	45.0					6																	79727259		2203	4296	6499	79783978	SO:0001583	missense	55023	exon11			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1036C>T	6.37:g.79727259G>A	ENSP00000275034:p.Arg346Trp		79783978	NM_017934	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496986	0.64186	.	.	ENSG00000146247	ENST00000275034	T	0.24350	1.86	5.28	2.89	0.33648	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.38607	-0.9653	9	.	.	.	-13.5262	11.5885	0.50933	0.0:0.0:0.3178:0.6822	.	346;346	A7J992;Q8WWQ0	.;PHIP_HUMAN	W	346	ENSP00000275034:R346W	.	R	-	1	2	PHIP	79783978	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	2.621000	0.46418	0.325000	0.23359	-0.410000	0.06199	CGG		0.323	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
LCA5	167691	broad.mit.edu	37	6	80197179	80197179	+	Missense_Mutation	SNP	C	C	T	rs35415141	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:80197179C>T	ENST00000392959.1	-	9	2247	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T	LCA5_ENST00000369846.4_Missense_Mutation_p.A546T	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	546			A -> P (in dbSNP:rs35415141).		intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.A546T(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTAGGGGAGGCTGGACTTCTA	0.388																																					p.A546T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1636A	6						.						98.0	97.0	98.0					6																	80197179		2203	4299	6502	80253898	SO:0001583	missense	167691	exon9				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1636G>A	6.37:g.80197179C>T	ENSP00000376686:p.Ala546Thr		80253898	NM_181714	E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	0.682	-0.797756	0.02862	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.32753	1.44;1.44	5.94	0.475	0.16774	.	0.994886	0.08164	N	0.988039	T	0.11239	0.0274	L	0.53249	1.67	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.37267	-0.9713	10	0.37606	T	0.19	4.9477	6.8887	0.24216	0.0:0.5415:0.237:0.2215	.	546	Q86VQ0	LCA5_HUMAN	T	546	ENSP00000358861:A546T;ENSP00000376686:A546T	ENSP00000358861:A546T	A	-	1	0	LCA5	80253898	0.167000	0.22975	0.027000	0.17364	0.006000	0.05464	0.830000	0.27462	0.119000	0.18210	-0.274000	0.10170	GCC		0.388	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714	
DOPEY1	23033	broad.mit.edu	37	6	83848302	83848302	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:83848302T>G	ENST00000349129.2	+	21	4801	c.4541T>G	c.(4540-4542)tTt>tGt	p.F1514C	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.F1495C|DOPEY1_ENST00000369739.3_Missense_Mutation_p.F1505C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1514					protein transport (GO:0015031)			p.F1514C(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTCCCTAGTTTTATTTCTGAT	0.368																																					p.F1514C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T4541G	6						.						76.0	83.0	80.0					6																	83848302		2203	4300	6503	83905021	SO:0001583	missense	23033	exon21			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.4541T>G	6.37:g.83848302T>G	ENSP00000195654:p.Phe1514Cys		83905021	NM_015018	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.043377	0.55003	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.45668	0.89;0.89	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54255	0.1847	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.995;0.993;0.993	T	0.58999	-0.7536	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	1405;1505;1514	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	C	1514;1495;1495	ENSP00000195654:F1514C;ENSP00000237163:F1495C	ENSP00000237163:F1495C	F	+	2	0	DOPEY1	83905021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.269000	0.75478	0.533000	0.62120	TTT		0.368	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
PRSS35	167681	broad.mit.edu	37	6	84233863	84233863	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:84233863A>C	ENST00000369700.3	+	2	880	c.703A>C	c.(703-705)Aaa>Caa	p.K235Q	PRSS35_ENST00000536636.1_Missense_Mutation_p.K235Q	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	235	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.K235Q(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AAGAAGAAAAAAATCTGGCCG	0.562																																					p.K235Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A703C	6						.						54.0	64.0	61.0					6																	84233863		2203	4300	6503	84290582	SO:0001583	missense	167681	exon3			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.703A>C	6.37:g.84233863A>C	ENSP00000358714:p.Lys235Gln		84290582	NM_001170423	A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.736104	0.00681	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.46063	0.88;0.88	5.46	1.66	0.24008	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	1.427680	0.04186	N	0.327393	T	0.12135	0.0295	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15464	-1.0436	10	0.13470	T	0.59	-19.3215	6.1735	0.20431	0.3964:0.2306:0.373:0.0	.	235	Q8N3Z0	PRS35_HUMAN	Q	235	ENSP00000440870:K235Q;ENSP00000358714:K235Q	ENSP00000358714:K235Q	K	+	1	0	PRSS35	84290582	0.005000	0.15991	0.000000	0.03702	0.002000	0.02628	0.494000	0.22467	-0.187000	0.10516	-1.482000	0.00985	AAA		0.562	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
CYB5R4	51167	broad.mit.edu	37	6	84629139	84629139	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:84629139C>A	ENST00000369681.5	+	7	670	c.530C>A	c.(529-531)tCt>tAt	p.S177Y		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	177	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell development (GO:0048468)|detection of oxygen (GO:0003032)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NAD(P)H oxidase activity (GO:0016174)|NADPH-hemoprotein reductase activity (GO:0003958)|oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653)	p.S177Y(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		CAAACAGACTCTTTAGTCACC	0.249																																					p.S177Y	Esophageal Squamous(86;1289 1332 25971 40349 52675)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C530A	6						.						36.0	37.0	37.0					6																	84629139		2168	4226	6394	84685858	SO:0001583	missense	51167	exon7			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	"""NADPH cytochrome B5 oxidoreductase"""	NCB5OR		10611283	Standard	NM_016230		Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.530C>A	6.37:g.84629139C>A	ENSP00000358695:p.Ser177Tyr		84685858	NM_016230	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	Missense_Mutation	SNP	ENST00000369681.5	37	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965416	0.53507	.	.	ENSG00000065615	ENST00000369681	T	0.32753	1.44	6.03	6.03	0.97812	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.341559	0.34223	N	0.004142	T	0.43809	0.1264	M	0.73598	2.24	0.80722	D	1	P	0.38767	0.646	P	0.52710	0.707	T	0.25433	-1.0132	10	0.66056	D	0.02	.	16.0754	0.80965	0.0:1.0:0.0:0.0	.	177	Q7L1T6	NB5R4_HUMAN	Y	177	ENSP00000358695:S177Y	ENSP00000358695:S177Y	S	+	2	0	CYB5R4	84685858	0.013000	0.17824	0.871000	0.34182	0.228000	0.25075	0.755000	0.26405	2.868000	0.98415	0.557000	0.71058	TCT		0.249	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041362.4	NM_016230	
CEP162	22832	broad.mit.edu	37	6	84871572	84871572	+	Missense_Mutation	SNP	G	G	A	rs145725361		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:84871572G>A	ENST00000403245.3	-	20	2683	c.2569C>T	c.(2569-2571)Cgt>Tgt	p.R857C	KIAA1009_ENST00000257766.4_Missense_Mutation_p.R781C|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.R857C(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTTGCAGACGACTGATTTCT	0.333													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14836	0.0		0.0	False		,,,				2504	0.0				p.R857C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2569T	6						.	G	CYS/ARG	13,4389	20.2+/-43.8	1,11,2189	112.0	103.0	106.0		2569	4.3	0.3	6	dbSNP_134	106	1,8595		0,1,4297	yes	missense	KIAA1009	NM_014895.2	180	1,12,6486	AA,AG,GG		0.0116,0.2953,0.1077	benign	857/1404	84871572	14,12984	2201	4298	6499	84928291	SO:0001583	missense	22832	exon20																														ENST00000403245.3:c.2569C>T	6.37:g.84871572G>A	ENSP00000385215:p.Arg857Cys		84928291	NM_014895		Missense_Mutation	SNP	ENST00000403245.3	37	CCDS34494.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	9.165	1.019761	0.19355	0.002953	1.16E-4	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.32272	1.46;1.46	5.2	4.32	0.51571	.	0.272686	0.33040	N	0.005347	T	0.12646	0.0307	L	0.50333	1.59	0.09310	N	1	B	0.22211	0.066	B	0.17098	0.017	T	0.04140	-1.0974	10	0.49607	T	0.09	-0.5209	7.9445	0.29978	0.1377:0.1426:0.7197:0.0	.	857	Q5TB80	QN1_HUMAN	C	781;857	ENSP00000257766:R781C;ENSP00000385215:R857C	ENSP00000257766:R781C	R	-	1	0	KIAA1009	84928291	0.010000	0.17322	0.329000	0.25429	0.554000	0.35429	1.809000	0.38922	2.593000	0.87608	0.655000	0.94253	CGT		0.333	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		
ZNF292	23036	broad.mit.edu	37	6	87968773	87968773	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:87968773C>A	ENST00000369577.3	+	8	5469	c.5426C>A	c.(5425-5427)tCt>tAt	p.S1809Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1804Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1809						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S1664Y(1)|p.S1809Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTACCCGATTCTTCTCCGTTT	0.358																																					p.S1809Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5426A	6						.						33.0	34.0	33.0					6																	87968773		1847	4089	5936	88025492	SO:0001583	missense	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5426C>A	6.37:g.87968773C>A	ENSP00000358590:p.Ser1809Tyr		88025492	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558388	0.03967	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07444	3.19;3.2	5.86	4.78	0.61160	.	0.614600	0.15573	N	0.255339	T	0.01940	0.0061	N	0.19112	0.55	0.09310	N	1	P	0.37864	0.61	B	0.31191	0.125	T	0.39941	-0.9589	10	0.51188	T	0.08	.	9.1148	0.36750	0.1447:0.7523:0.0:0.103	.	1809	O60281	ZN292_HUMAN	Y	1809;1804	ENSP00000358590:S1809Y;ENSP00000342847:S1804Y	ENSP00000342847:S1804Y	S	+	2	0	ZNF292	88025492	0.007000	0.16637	0.775000	0.31657	0.084000	0.17831	0.596000	0.24044	2.937000	0.99478	0.650000	0.86243	TCT		0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
RARS2	57038	broad.mit.edu	37	6	88240594	88240594	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:88240594A>C	ENST00000369536.5	-	9	724	c.679T>G	c.(679-681)Ttc>Gtc	p.F227V		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	227					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.F227V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		AATCGTTGGAAGAACTCCTGT	0.383																																					p.F227V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T679G	6						.						207.0	196.0	200.0					6																	88240594		2203	4300	6503	88297313	SO:0001583	missense	57038	exon9			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.679T>G	6.37:g.88240594A>C	ENSP00000358549:p.Phe227Val		88297313	NM_020320	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.640136	0.67244	.	.	ENSG00000146282	ENST00000369536	T	0.66280	-0.2	6.17	6.17	0.99709	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.087416	0.85682	D	0.000000	T	0.64962	0.2646	L	0.43152	1.355	0.80722	D	1	D	0.57899	0.981	D	0.65987	0.94	T	0.63765	-0.6563	10	0.36615	T	0.2	.	16.4837	0.84171	1.0:0.0:0.0:0.0	.	227	Q5T160	SYRM_HUMAN	V	227	ENSP00000358549:F227V	ENSP00000358549:F227V	F	-	1	0	RARS2	88297313	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	7.578000	0.82498	2.371000	0.80710	0.533000	0.62120	TTC		0.383	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320	
RARS2	57038	broad.mit.edu	37	6	88255353	88255353	+	Silent	SNP	G	G	A	rs140354649		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:88255353G>A	ENST00000369536.5	-	7	561	c.516C>T	c.(514-516)ggC>ggT	p.G172G		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	172					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.G172G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TGCCCCAATCGCCAAGGTAAT	0.294													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16709	0.0		0.0	False		,,,				2504	0.0				p.G172G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C516T	6						.						122.0	129.0	127.0					6																	88255353		2203	4298	6501	88312072	SO:0001819	synonymous_variant	57038	exon7			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.516C>T	6.37:g.88255353G>A			88312072	NM_020320	B2RDT7|Q96FU5|Q9H8K8	Silent	SNP	ENST00000369536.5	37	CCDS5011.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.598	0.672094	0.14776	.	.	ENSG00000146282	ENST00000451155	.	.	.	6.17	-4.45	0.03546	.	.	.	.	.	T	0.22322	0.0538	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40213	-0.9575	4	.	.	.	.	2.7024	0.05153	0.191:0.1205:0.4146:0.274	.	.	.	.	V	200	.	.	A	-	2	0	RARS2	88312072	0.099000	0.21834	0.979000	0.43373	0.987000	0.75469	-1.139000	0.03213	-0.597000	0.05813	-1.104000	0.02111	GCG		0.294	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320	
ORC3	23595	broad.mit.edu	37	6	88326097	88326097	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:88326097C>A	ENST00000392844.3	+	9	987	c.939C>A	c.(937-939)atC>atA	p.I313I	ORC3_ENST00000546266.1_Silent_p.I170I|ORC3_ENST00000417380.2_Silent_p.I260I|ORC3_ENST00000257789.4_Silent_p.I313I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	313					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.I313I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TGACCAACATCTTTTTGTATC	0.328																																					p.I313I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C939A	6						.						64.0	66.0	65.0					6																	88326097		2202	4293	6495	88382816	SO:0001819	synonymous_variant	23595	exon9			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.939C>A	6.37:g.88326097C>A			88382816	NM_012381	A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	CCDS43486.1																																																																																				0.328	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2		
GABRR1	2569	broad.mit.edu	37	6	89907868	89907868	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:89907868C>T	ENST00000454853.2	-	5	553	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	GABRR1_ENST00000435811.1_Missense_Mutation_p.R131Q|GABRR1_ENST00000369451.3_Missense_Mutation_p.R61Q	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	148					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R142Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CTTGACCAGCCGGCCGTCAAA	0.542																																					p.R148Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G443A	6						.						342.0	312.0	322.0					6																	89907868		2203	4300	6503	89964587	SO:0001583	missense	2569	exon5				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.443G>A	6.37:g.89907868C>T	ENSP00000412673:p.Arg148Gln		89964587	NM_002042	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	36	5.854948	0.97030	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	T;T;T	0.78924	-1.22;-1.22;-1.22	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.104110	0.64402	D	0.000004	D	0.87289	0.6140	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.993;0.997	D	0.85906	0.1437	9	.	.	.	-26.5625	20.1237	0.97972	0.0:1.0:0.0:0.0	.	131;148	P24046-2;P24046	.;GBRR1_HUMAN	Q	148;131;61;61	ENSP00000412673:R148Q;ENSP00000394687:R131Q;ENSP00000358463:R61Q	.	R	-	2	0	GABRR1	89964587	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	7.717000	0.84732	2.759000	0.94783	0.561000	0.74099	CGG		0.542	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2		
MDN1	23195	broad.mit.edu	37	6	90353807	90353807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:90353807G>A	ENST00000369393.3	-	102	16823	c.16708C>T	c.(16708-16710)Cga>Tga	p.R5570*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.R5570*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5570	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTACATCTCGAAGAATGATA	0.453																																					p.R5570X												.	.	0			c.C16708T	6						.						181.0	159.0	166.0					6																	90353807		2203	4300	6503	90410528	SO:0001587	stop_gained	23195	exon102			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16708C>T	6.37:g.90353807G>A	ENSP00000358400:p.Arg5570*		90410528	NM_014611	O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	57	29.211249	0.99975	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7882	0.69819	0.0:0.0:0.8217:0.1783	.	.	.	.	X	5570	.	ENSP00000358400:R5570X	R	-	1	2	MDN1	90410528	1.000000	0.71417	0.988000	0.46212	0.960000	0.62799	3.904000	0.56325	2.763000	0.94921	0.555000	0.69702	CGA		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90354764	90354764	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:90354764G>T	ENST00000369393.3	-	101	16687	c.16572C>A	c.(16570-16572)atC>atA	p.I5524I	MDN1_ENST00000428876.1_Silent_p.I5524I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5524	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.I5524I(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATACAACAAAGATGACAAAGA	0.483																																					p.I5524I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C16572A	6						.						87.0	88.0	88.0					6																	90354764		2203	4300	6503	90411485	SO:0001819	synonymous_variant	23195	exon101			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16572C>A	6.37:g.90354764G>T			90411485	NM_014611	O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	CCDS5024.1																																																																																				0.483	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90410003	90410003	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:90410003C>A	ENST00000369393.3	-	57	8764	c.8649G>T	c.(8647-8649)aaG>aaT	p.K2883N	MDN1_ENST00000428876.1_Missense_Mutation_p.K2883N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2883					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.K2883N(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCACAAAATTCTTCAATTCAT	0.413																																					p.K2883N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8649T	6						.						53.0	53.0	53.0					6																	90410003		2203	4300	6503	90466724	SO:0001583	missense	23195	exon57			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8649G>T	6.37:g.90410003C>A	ENSP00000358400:p.Lys2883Asn		90466724	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666595	0.29604	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03301	3.98;3.98	6.02	6.02	0.97574	.	0.300350	0.37393	N	0.002115	T	0.02304	0.0071	L	0.29908	0.895	0.45378	D	0.998363	P	0.45902	0.868	B	0.42319	0.383	T	0.65874	-0.6062	10	0.20519	T	0.43	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	2883	Q9NU22	MDN1_HUMAN	N	2883	ENSP00000358400:K2883N;ENSP00000413970:K2883N	ENSP00000358400:K2883N	K	-	3	2	MDN1	90466724	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	5.710000	0.68392	2.865000	0.98341	0.655000	0.94253	AAG		0.413	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90424355	90424355	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:90424355A>C	ENST00000369393.3	-	46	7091	c.6976T>G	c.(6976-6978)Ttg>Gtg	p.L2326V	MDN1_ENST00000428876.1_Missense_Mutation_p.L2326V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2326					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.L2326V(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGAACTTTCAAATCCAGGTTG	0.498																																					p.L2326V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T6976G	6						.						158.0	129.0	139.0					6																	90424355		2203	4300	6503	90481076	SO:0001583	missense	23195	exon46			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6976T>G	6.37:g.90424355A>C	ENSP00000358400:p.Leu2326Val		90481076	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	10.19	1.283271	0.23392	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03920	3.76;3.76	5.01	-1.43	0.08884	.	0.171789	0.39475	N	0.001352	T	0.01353	0.0044	L	0.49350	1.555	0.34652	D	0.721805	B	0.22683	0.073	B	0.23419	0.046	T	0.45308	-0.9270	10	0.25751	T	0.34	.	4.1329	0.10158	0.4423:0.0:0.2357:0.322	.	2326	Q9NU22	MDN1_HUMAN	V	2326	ENSP00000358400:L2326V;ENSP00000413970:L2326V	ENSP00000358400:L2326V	L	-	1	2	MDN1	90481076	0.172000	0.23043	0.972000	0.41901	0.868000	0.49771	-0.405000	0.07196	-0.166000	0.10890	0.519000	0.50382	TTG		0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
MDN1	23195	broad.mit.edu	37	6	90503486	90503486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:90503486C>A	ENST00000369393.3	-	5	965	c.850G>T	c.(850-852)Gag>Tag	p.E284*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.E284*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	284					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E284*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CATACCAGCTCTCCAGGGGCT	0.557																																					p.E284X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G850T	6						.						52.0	55.0	54.0					6																	90503486		2203	4300	6503	90560207	SO:0001587	stop_gained	23195	exon5			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.850G>T	6.37:g.90503486C>A	ENSP00000358400:p.Glu284*		90560207	NM_014611	O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155737	0.94686	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	.	.	.	5.63	4.74	0.60224	.	0.262335	0.37715	N	0.001975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	9.8389	0.40987	0.0:0.7867:0.1409:0.0723	.	.	.	.	X	284	.	ENSP00000358400:E284X	E	-	1	0	MDN1	90560207	1.000000	0.71417	0.695000	0.30226	0.007000	0.05969	3.527000	0.53517	1.341000	0.45600	0.650000	0.86243	GAG		0.557	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
CASP8AP2	9994	broad.mit.edu	37	6	90576869	90576869	+	RNA	SNP	G	G	A	rs375610839		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:90576869G>A	ENST00000551025.1	+	0	5297									caspase 8 associated protein 2									p.R1287Q(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAGCCAGAACGAAGTTTCGAG	0.418																																					p.R1287Q	Colon(187;1656 2025 17045 31481 39901)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3860A	6						.	G	GLN/ARG,GLN/ARG,GLN/ARG	1,3815		0,1,1907	115.0	113.0	114.0		3860,3860,3860	3.9	1.0	6		114	0,8246		0,0,4123	no	missense,missense,missense	CASP8AP2	NM_001137667.1,NM_001137668.1,NM_012115.3	43,43,43	0,1,6030	AA,AG,GG		0.0,0.0262,0.0083	probably-damaging,probably-damaging,probably-damaging	1287/1967,1287/1967,1287/1967	90576869	1,12061	1908	4123	6031	90633590			9994	exon8			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90576869G>A			90633590	NM_001137667		Missense_Mutation	SNP	ENST00000551025.1	37																																																																																					0.418	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
GJA10	84694	broad.mit.edu	37	6	90604594	90604594	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:90604594G>T	ENST00000369352.1	+	1	407	c.407G>T	c.(406-408)aGg>aTg	p.R136M		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	137					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AGGGAACTGAGGAGGTTAGAG	0.458																																					p.R136M												.	.	0			c.G407T	6						.						86.0	85.0	86.0					6																	90604594		2203	4300	6503	90661315	SO:0001583	missense	84694	exon1			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.407G>T	6.37:g.90604594G>T	ENSP00000358358:p.Arg136Met		90661315	NM_032602	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456832	0.63401	.	.	ENSG00000135355	ENST00000369352	D	0.97811	-4.55	4.91	1.06	0.20224	.	0.678397	0.11862	N	0.522322	D	0.96216	0.8766	M	0.62723	1.935	0.35059	D	0.761352	D	0.63046	0.992	P	0.54965	0.765	D	0.92249	0.5807	10	0.52906	T	0.07	.	9.1416	0.36908	0.3064:0.0:0.6936:0.0	.	136	Q969M2	CXA10_HUMAN	M	136	ENSP00000358358:R136M	ENSP00000358358:R136M	R	+	2	0	GJA10	90661315	1.000000	0.71417	0.823000	0.32752	0.936000	0.57629	5.510000	0.67018	0.009000	0.14813	0.563000	0.77884	AGG		0.458	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
EPHA7	2045	broad.mit.edu	37	6	93953157	93953157	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:93953157C>T	ENST00000369303.4	-	17	3168	c.2984G>A	c.(2983-2985)gGc>gAc	p.G995D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	995					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.G995D(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CACTTGAATGCCAGTTCCATG	0.408																																					p.G995D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2984A	6						.						261.0	216.0	231.0					6																	93953157		2203	4300	6503	94009878	SO:0001583	missense	2045	exon17			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2984G>A	6.37:g.93953157C>T	ENSP00000358309:p.Gly995Asp		94009878	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111595	0.77210	.	.	ENSG00000135333	ENST00000369303	T	0.06449	3.3	5.79	5.79	0.91817	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.15782	0.0380	L	0.55743	1.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	T	0.00812	-1.1556	10	0.42905	T	0.14	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	991;990;995	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	D	995	ENSP00000358309:G995D	ENSP00000358309:G995D	G	-	2	0	EPHA7	94009878	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.954000	0.70298	2.727000	0.93392	0.591000	0.81541	GGC		0.408	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
EPHA7	2045	broad.mit.edu	37	6	94066685	94066685	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:94066685C>T	ENST00000369303.4	-	5	1258	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	358	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.G358G(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGTTTCTTCCCCCATTGTCTG	0.498																																					p.G358G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1074A	6						.						137.0	122.0	127.0					6																	94066685		2203	4300	6503	94123406	SO:0001819	synonymous_variant	2045	exon5			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1074G>A	6.37:g.94066685C>T			94123406	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	CCDS5031.1																																																																																				0.498	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
EPHA7	2045	broad.mit.edu	37	6	94120688	94120688	+	Silent	SNP	T	T	C	rs537012893	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:94120688T>C	ENST00000369303.4	-	3	547	c.363A>G	c.(361-363)gaA>gaG	p.E121E	EPHA7_ENST00000369297.1_Silent_p.E121E	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	121	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E121E(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATTAAATGTTTCCTTGCAAG	0.368													T|||	4	0.000798722	0.0	0.0	5008	,	,		19155	0.0		0.0	False		,,,				2504	0.0041				p.E121E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A363G	6						.						122.0	127.0	125.0					6																	94120688		2203	4300	6503	94177409	SO:0001819	synonymous_variant	2045	exon3			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.363A>G	6.37:g.94120688T>C			94177409	NM_004440	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	CCDS5031.1																																																																																				0.368	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
NDUFAF4	29078	broad.mit.edu	37	6	97339024	97339024	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:97339024C>T	ENST00000316149.7	-	3	563	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	NDUFAF4_ENST00000489477.1_5'Flank	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	162					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)		p.E162K(1)		large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GGGAAGATTTCGACTTCAAAA	0.358																																					p.E162K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G484A	6						.						66.0	66.0	66.0					6																	97339024		2203	4298	6501	97445745	SO:0001583	missense	29078	exon3			AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"""Mitochondrial respiratory chain complex assembly factors"""	21034	protein-coding gene	gene with protein product		611776	"""chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"""	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.484G>A	6.37:g.97339024C>T	ENSP00000358272:p.Glu162Lys		97445745	NM_014165	B2R4J5	Missense_Mutation	SNP	ENST00000316149.7	37	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	C	0.293	-0.978483	0.02197	.	.	ENSG00000123545	ENST00000316149	T	0.81415	-1.49	5.08	2.72	0.32119	.	0.385943	0.31709	N	0.007200	T	0.10165	0.0249	N	0.00024	-2.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.50110	-0.8866	10	0.02654	T	1	-11.0508	4.9454	0.13987	0.0:0.2351:0.1658:0.5991	.	162	Q9P032	NDUF4_HUMAN	K	162	ENSP00000358272:E162K	ENSP00000358272:E162K	E	-	1	0	NDUFAF4	97445745	0.033000	0.19621	0.881000	0.34555	0.399000	0.30720	0.533000	0.23082	0.794000	0.33899	-0.238000	0.12139	GAA		0.358	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165	
KLHL32	114792	broad.mit.edu	37	6	97533083	97533083	+	Missense_Mutation	SNP	G	G	A	rs144370224		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:97533083G>A	ENST00000369261.4	+	6	856	c.493G>A	c.(493-495)Gat>Aat	p.D165N	KLHL32_ENST00000539200.1_Missense_Mutation_p.D96N|KLHL32_ENST00000536676.1_Missense_Mutation_p.D129N|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	165								p.D165N(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGCAGTGATCGATTTCTTAGT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		16594	0.0		0.001	False		,,,				2504	0.0				p.D165N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G493A	6						.	G	ASN/ASP	0,4406		0,0,2203	114.0	113.0	114.0		493	5.2	1.0	6	dbSNP_134	114	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KLHL32	NM_052904.3	23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	165/621	97533083	2,13004	2203	4300	6503	97639804	SO:0001583	missense	114792	exon6			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.493G>A	6.37:g.97533083G>A	ENSP00000358265:p.Asp165Asn		97639804	NM_052904	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	ENST00000369261.4	37	CCDS5038.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.1	4.247820	0.80024	0.0	2.33E-4	ENSG00000186231	ENST00000369255;ENST00000369261;ENST00000536676;ENST00000539200;ENST00000447886	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	6.07	5.2	0.72013	BTB/Kelch-associated (2);	0.098282	0.64402	D	0.000001	T	0.36608	0.0973	L	0.31476	0.935	0.80722	D	1	B;B;B;P	0.40794	0.092;0.426;0.341;0.729	B;B;B;B	0.34452	0.052;0.169;0.106;0.183	T	0.28396	-1.0045	10	0.17832	T	0.49	.	14.8195	0.70062	0.0683:0.0:0.9317:0.0	.	96;129;165;165	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	N	91;165;129;96;61	ENSP00000358265:D165N;ENSP00000440382:D129N;ENSP00000441527:D96N;ENSP00000389310:D61N	ENSP00000358259:D91N	D	+	1	0	KLHL32	97639804	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	6.189000	0.72051	2.885000	0.99019	0.655000	0.94253	GAT		0.443	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	NM_052904	
MMS22L	253714	broad.mit.edu	37	6	97694520	97694520	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:97694520T>G	ENST00000275053.4	-	11	1431	c.1166A>C	c.(1165-1167)aAg>aCg	p.K389T	MMS22L_ENST00000369251.2_Missense_Mutation_p.K389T	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	389					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.K389T(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTGATGGACTTTTTCAGCAG	0.303																																					p.K389T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1166C	6						.						86.0	84.0	85.0					6																	97694520		2203	4296	6499	97801241	SO:0001583	missense	253714	exon11				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1166A>C	6.37:g.97694520T>G	ENSP00000275053:p.Lys389Thr		97801241	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.324111	0.60634	.	.	ENSG00000146263	ENST00000275053;ENST00000369251;ENST00000510018;ENST00000482634	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.87	4.68	0.58851	.	0.518865	0.20414	N	0.092812	T	0.17746	0.0426	M	0.61703	1.905	0.25064	N	0.991044	P;P	0.39480	0.675;0.554	B;B	0.41988	0.372;0.218	T	0.08700	-1.0709	10	0.46703	T	0.11	-4.5124	8.9177	0.35592	0.0:0.1464:0.0:0.8536	.	389;389	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	T	389;389;277;81	ENSP00000275053:K389T;ENSP00000358254:K389T;ENSP00000427288:K277T;ENSP00000421225:K81T	ENSP00000275053:K389T	K	-	2	0	MMS22L	97801241	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	0.577000	0.23758	0.995000	0.38917	0.528000	0.53228	AAG		0.303	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
LPAL2	80350	broad.mit.edu	37	6	160913956	160913956	+	RNA	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:160913956G>A	ENST00000335388.5	-	0	364					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)		p.S83L(1)		large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AGGGCCTGCCGAACAATCCGG	0.507																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	6						.						137.0	121.0	126.0					6																	160913956		2203	4300	6503	160833946			80350	.			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160913956G>A			160833946	.	E1P5B4	Missense_Mutation	SNP	ENST00000335388.5	37																																																																																					0.507	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492	
ERMARD	55780	broad.mit.edu	37	6	170176159	170176159	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr6:170176159G>A	ENST00000366773.3	+	15	1551	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	ERMARD_ENST00000366772.2_Silent_p.E506E|ERMARD_ENST00000588451.1_Silent_p.E370E|ERMARD_ENST00000418781.3_Silent_p.E506E|ERMARD_ENST00000392095.4_Silent_p.E380E	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	506					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E506E(1)									TTCCTACTGAGACGTAAGTTC	0.388																																					p.E506E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1518A	6						.						143.0	117.0	126.0					6																	170176159		2203	4300	6503	169918084	SO:0001819	synonymous_variant	55780	exon15			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1518G>A	6.37:g.170176159G>A			169918084	NM_018341	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	CCDS34576.1																																																																																				0.388	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341	
ZAN	7455	broad.mit.edu	37	7	100334970	100334970	+	RNA	SNP	G	G	A	rs367593224		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:100334970G>A	ENST00000348028.3	+	0	776				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R204H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCTGTAATCGCGGTGAGTCC	0.622																																					p.R204H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G611A	7						.	G	HIS/ARG,HIS/ARG	0,3824		0,0,1912	36.0	37.0	37.0		611,611	-6.1	0.0	7		37	1,7769		0,1,3884	no	missense,missense	ZAN	NM_003386.1,NM_173059.1	29,29	0,1,5796	AA,AG,GG		0.0129,0.0,0.0086	probably-damaging,probably-damaging	204/2813,204/2722	100334970	1,11593	1912	3885	5797	100172906			7455	exon6			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334970G>A			100172906	NM_173059	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	12.43	1.935425	0.34189	0.0	1.29E-4	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.15487	2.45;2.45;2.42	3.87	-6.06	0.02165	MAM domain (2);	.	.	.	.	T	0.12347	0.0300	L	0.47716	1.5	0.24503	N	0.994243	B;B	0.26635	0.128;0.155	B;B	0.21151	0.019;0.033	T	0.25779	-1.0122	9	0.87932	D	0	.	6.8277	0.23893	0.5646:0.2508:0.1846:0.0	.	204;204	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	204	ENSP00000445943:R204H;ENSP00000445091:R204H;ENSP00000444427:R204H	ENSP00000423579:R204H	R	+	2	0	ZAN	100172906	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	-1.091000	0.03369	-1.551000	0.01706	0.561000	0.74099	CGC		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
ZAN	7455	broad.mit.edu	37	7	100373298	100373298	+	RNA	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:100373298G>A	ENST00000348028.3	+	0	6199				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2011N(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TAGATCAACAGCAAACAGGTC	0.582																																					p.A2012T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G6034A	7						.						77.0	77.0	77.0					7																	100373298		2105	4203	6308	100211234			7455	exon33			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373298G>A			100211234	NM_173059	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	G	11.54	1.669170	0.29604	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.49	-1.18	0.09617	von Willebrand factor, type D domain (3);	0.501460	0.16925	N	0.193909	T	0.30759	0.0775	.	.	.	0.09310	N	1	B;B;B	0.27286	0.144;0.144;0.174	B;B;B	0.26094	0.039;0.039;0.066	T	0.26849	-1.0091	9	0.09843	T	0.71	.	7.7892	0.29110	0.584:0.0:0.416:0.0	.	522;2011;2012	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	N	2011;2011;2011;522	ENSP00000445943:S2011N;ENSP00000445091:S2011N;ENSP00000444427:S2011N;ENSP00000441117:S522N	ENSP00000445091:S2011N	S	+	2	0	ZAN	100211234	0.337000	0.24766	0.003000	0.11579	0.020000	0.10135	0.552000	0.23376	-0.130000	0.11599	-0.269000	0.10298	AGC		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
MUC17	140453	broad.mit.edu	37	7	100674975	100674975	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:100674975C>T	ENST00000306151.4	+	3	342	c.278C>T	c.(277-279)tCg>tTg	p.S93L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	93	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)	p.S93L(1)		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)					GAGATGACCTCGATTGAGTCC	0.488																																					p.S93L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C278T	7						.						120.0	112.0	115.0					7																	100674975		2203	4300	6503	100461695	SO:0001583	missense	140453	exon3			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.278C>T	7.37:g.100674975C>T	ENSP00000302716:p.Ser93Leu		100461695	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.262	-0.998900	0.02128	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.678	-1.36	0.09085	.	.	.	.	.	T	0.01592	0.0051	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46803	-0.9165	8	0.38643	T	0.18	.	.	.	.	.	93	Q685J3	MUC17_HUMAN	L	93	ENSP00000302716:S93L	ENSP00000302716:S93L	S	+	2	0	MUC17	100461695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.032000	0.03574	-3.036000	0.00264	-1.605000	0.00808	TCG		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100686141	100686141	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:100686141T>C	ENST00000306151.4	+	3	11508	c.11444T>C	c.(11443-11445)tTa>tCa	p.L3815S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3815	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)	p.L3815S(1)		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)					AGAAGCACTTTATTGACAACT	0.488																																					p.L3815S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T11444C	7						.						100.0	88.0	92.0					7																	100686141		2203	4300	6503	100472861	SO:0001583	missense	140453	exon3			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.11444T>C	7.37:g.100686141T>C	ENSP00000302716:p.Leu3815Ser		100472861	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	6.268	0.417549	0.11870	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	1.31	-2.4	0.06583	.	.	.	.	.	T	0.01353	0.0044	N	0.14661	0.345	0.09310	N	1	P	0.44260	0.83	B	0.43018	0.405	T	0.39643	-0.9604	9	0.09084	T	0.74	.	4.9228	0.13878	0.0:0.6141:0.0:0.3859	.	3815	Q685J3	MUC17_HUMAN	S	3815	ENSP00000302716:L3815S	ENSP00000302716:L3815S	L	+	2	0	MUC17	100472861	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.327000	0.07955	-0.769000	0.04620	0.158000	0.16466	TTA		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100693864	100693864	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:100693864G>A	ENST00000306151.4	+	7	12886	c.12822G>A	c.(12820-12822)gaG>gaA	p.E4274E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4274	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.E4274E(1)		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)					TAGTGAAAGAGAAAATCACAA	0.468																																					p.E4274E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G12822A	7						.						137.0	118.0	124.0					7																	100693864		2203	4300	6503	100480584	SO:0001819	synonymous_variant	140453	exon7			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.12822G>A	7.37:g.100693864G>A			100480584	NM_001040105	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																				0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
DNAJC2	27000	broad.mit.edu	37	7	102953082	102953082	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:102953082G>A	ENST00000379263.3	-	17	2050	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V	PMPCB_ENST00000420236.2_Intron|PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Silent_p.V547V	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	600	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.V563V(1)|p.V547V(1)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTACCATCTCGACAAGTTCCT	0.348																																					p.V547V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1641T	7						.						161.0	140.0	146.0					7																	102953082		1844	4094	5938	102740318	SO:0001819	synonymous_variant	27000	exon15			X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1800C>T	7.37:g.102953082G>A			102740318	NM_001129887	A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	CCDS43628.1																																																																																				0.348	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1		
RELN	5649	broad.mit.edu	37	7	103197580	103197580	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:103197580G>A	ENST00000428762.1	-	38	5800	c.5641C>T	c.(5641-5643)Ctg>Ttg	p.L1881L	RELN_ENST00000343529.5_Silent_p.L1881L|RELN_ENST00000424685.2_Silent_p.L1881L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1881					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.L1881L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATTGTAACAGAATAGAGTGA	0.383																																					p.L1881L	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5641T	7						.						102.0	96.0	98.0					7																	103197580		2203	4300	6503	102984816	SO:0001819	synonymous_variant	5649	exon38				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5641C>T	7.37:g.103197580G>A			102984816	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	CCDS47680.1																																																																																				0.383	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
RELN	5649	broad.mit.edu	37	7	103234301	103234301	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:103234301T>C	ENST00000428762.1	-	27	3899	c.3740A>G	c.(3739-3741)tAc>tGc	p.Y1247C	RELN_ENST00000343529.5_Missense_Mutation_p.Y1247C|RELN_ENST00000424685.2_Missense_Mutation_p.Y1247C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1247					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.Y1247C(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTCATAGGGTAATCAAAAGC	0.338																																					p.Y1247C	NSCLC(146;835 1944 15585 22231 52158)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3740G	7						.						97.0	88.0	91.0					7																	103234301		2203	4300	6503	103021537	SO:0001583	missense	5649	exon27				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3740A>G	7.37:g.103234301T>C	ENSP00000392423:p.Tyr1247Cys		103021537	NM_005045	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810881	0.70797	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23950	1.88;1.88;1.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79784	0.989;0.993	T	0.41233	-0.9520	10	0.72032	D	0.01	.	16.4069	0.83677	0.0:0.0:0.0:1.0	.	1247;1247	P78509-2;P78509	.;RELN_HUMAN	C	1247	ENSP00000392423:Y1247C;ENSP00000345694:Y1247C;ENSP00000388446:Y1247C	ENSP00000345694:Y1247C	Y	-	2	0	RELN	103021537	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.474000	0.81024	2.272000	0.75746	0.460000	0.39030	TAC		0.338	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
KMT2E	55904	broad.mit.edu	37	7	104722146	104722146	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:104722146A>C	ENST00000311117.3	+	13	1805	c.1260A>C	c.(1258-1260)gaA>gaC	p.E420D	KMT2E_ENST00000257745.4_Missense_Mutation_p.E420D|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.E420D|KMT2E_ENST00000476671.1_Missense_Mutation_p.E420D	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	420	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E420D(1)									TGAGGCATGAAATTCAAGATG	0.289																																					p.E420D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1260C	7						.						76.0	84.0	82.0					7																	104722146		2201	4286	6487	104509382	SO:0001583	missense	55904	exon13			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1260A>C	7.37:g.104722146A>C	ENSP00000312379:p.Glu420Asp		104509382	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539876	0.27563	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.24	4.02	0.46733	SET domain (3);	0.193124	0.43747	D	0.000531	T	0.73241	0.3562	N	0.20986	0.625	0.80722	D	1	P;B;B	0.38978	0.652;0.312;0.058	P;B;B	0.48063	0.565;0.111;0.02	T	0.71682	-0.4519	10	0.40728	T	0.16	.	7.4039	0.26979	0.6685:0.1251:0.0:0.2064	.	54;420;420	Q86W16;Q8IZD2;Q8IZD2-3	.;MLL5_HUMAN;.	D	420;420;420;420;420;278;420;354	ENSP00000312379:E420D;ENSP00000335599:E420D;ENSP00000257745:E420D;ENSP00000419883:E278D;ENSP00000417888:E420D	ENSP00000257745:E420D	E	+	3	2	MLL5	104509382	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.219000	0.32479	1.986000	0.57962	0.454000	0.30748	GAA		0.289	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
KMT2E	55904	broad.mit.edu	37	7	104746993	104746993	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:104746993G>A	ENST00000311117.3	+	20	3166	c.2621G>A	c.(2620-2622)cGa>cAa	p.R874Q	KMT2E_ENST00000257745.4_Missense_Mutation_p.R874Q|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.R874Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	874					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.R874Q(1)									CTAAAAAAACGAAGATTTTAT	0.373																																					p.R874Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2621A	7						.						81.0	82.0	82.0					7																	104746993		2203	4300	6503	104534229	SO:0001583	missense	55904	exon20			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2621G>A	7.37:g.104746993G>A	ENSP00000312379:p.Arg874Gln		104534229	NM_182931	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064222	0.76187	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.94966	-3.57;-2.99;-3.57	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000003	D	0.95281	0.8469	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.93870	0.7161	10	0.26408	T	0.33	.	19.214	0.93768	0.0:0.0:1.0:0.0	.	874	Q8IZD2	MLL5_HUMAN	Q	874;874;874;794;874	ENSP00000312379:R874Q;ENSP00000335599:R874Q;ENSP00000257745:R874Q	ENSP00000257745:R874Q	R	+	2	0	MLL5	104534229	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.778000	0.75043	2.537000	0.85549	0.585000	0.79938	CGA		0.373	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1		
PRKAR2B	5577	broad.mit.edu	37	7	106797436	106797436	+	Missense_Mutation	SNP	C	C	T	rs201018627		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:106797436C>T	ENST00000265717.4	+	9	1185	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	309					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.S309L(2)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TAGGGAGATTCGGCTGATTCT	0.348													C|||	1	0.000199681	0.0	0.0	5008	,	,		18272	0.001		0.0	False		,,,				2504	0.0				p.S309L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C926T	7						.						100.0	110.0	106.0					7																	106797436		2203	4300	6503	106584672	SO:0001583	missense	5577	exon9				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.926C>T	7.37:g.106797436C>T	ENSP00000265717:p.Ser309Leu		106584672	NM_002736	A4D0R9	Missense_Mutation	SNP	ENST00000265717.4	37	CCDS5740.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706341	0.30232	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.92595	-3.07	5.97	-5.79	0.02354	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.892209	0.09973	N	0.732058	T	0.81612	0.4859	N	0.16130	0.375	0.80722	D	1	B	0.17852	0.024	B	0.15052	0.012	T	0.53287	-0.8460	10	0.27785	T	0.31	-24.2712	11.9519	0.52961	0.0:0.5:0.0942:0.4058	.	309	P31323	KAP3_HUMAN	L	309;309;296	ENSP00000265717:S309L	ENSP00000265717:S309L	S	+	2	0	PRKAR2B	106584672	0.342000	0.24809	0.496000	0.27539	0.929000	0.56500	0.100000	0.15231	-0.974000	0.03550	-0.768000	0.03414	TCG		0.348	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1		
GPR22	2845	broad.mit.edu	37	7	107114579	107114579	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:107114579A>G	ENST00000304402.4	+	3	1417	c.74A>G	c.(73-75)gAc>gGc	p.D25G	COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	25					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.D25G(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GACATTGATGACATCAACACC	0.398																																					p.D25G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A74G	7						.						171.0	137.0	148.0					7																	107114579		2203	4300	6503	106901815	SO:0001583	missense	2845	exon3			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.74A>G	7.37:g.107114579A>G	ENSP00000302676:p.Asp25Gly		106901815	NM_005295	O14554	Missense_Mutation	SNP	ENST00000304402.4	37	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	A	4.849	0.157754	0.09236	.	.	ENSG00000172209	ENST00000304402	T	0.37235	1.21	5.35	4.17	0.49024	.	0.495684	0.22550	N	0.058608	T	0.21841	0.0526	N	0.14661	0.345	0.36851	D	0.887881	B	0.12013	0.005	B	0.10450	0.005	T	0.09751	-1.0660	10	0.21540	T	0.41	-3.6496	12.495	0.55923	0.8601:0.1399:0.0:0.0	.	25	Q99680	GPR22_HUMAN	G	25	ENSP00000302676:D25G	ENSP00000302676:D25G	D	+	2	0	GPR22	106901815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.564000	0.45931	0.942000	0.37525	0.528000	0.53228	GAC		0.398	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1		
GPR22	2845	broad.mit.edu	37	7	107115226	107115226	+	Nonsense_Mutation	SNP	C	C	T	rs369044847		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:107115226C>T	ENST00000304402.4	+	3	2064	c.721C>T	c.(721-723)Cga>Tga	p.R241*	COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	241					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TCTTAATATTCGAATAGGCAC	0.358																																					p.R241X												.	.	0			c.C721T	7						.						57.0	54.0	55.0					7																	107115226		2202	4298	6500	106902462	SO:0001587	stop_gained	2845	exon3			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.721C>T	7.37:g.107115226C>T	ENSP00000302676:p.Arg241*		106902462	NM_005295	O14554	Nonsense_Mutation	SNP	ENST00000304402.4	37	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	C	47	13.440397	0.99742	.	.	ENSG00000172209	ENST00000304402	.	.	.	5.56	5.56	0.83823	.	0.123072	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.4377	19.5126	0.95148	0.0:1.0:0.0:0.0	.	.	.	.	X	241	.	ENSP00000302676:R241X	R	+	1	2	GPR22	106902462	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.048000	0.57390	2.618000	0.88619	0.585000	0.79938	CGA		0.358	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1		
COG5	10466	broad.mit.edu	37	7	107198468	107198468	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:107198468T>G	ENST00000347053.3	-	2	330	c.280A>C	c.(280-282)Aaa>Caa	p.K94Q	COG5_ENST00000393603.2_Missense_Mutation_p.K94Q|COG5_ENST00000297135.3_Missense_Mutation_p.K94Q	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	94					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.K94Q(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TGGGCAAGTTTTGCTAGTTGT	0.368																																					p.K94Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A280C	7						.						107.0	97.0	100.0					7																	107198468		2203	4300	6503	106985704	SO:0001583	missense	10466	exon2			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.280A>C	7.37:g.107198468T>G	ENSP00000334703:p.Lys94Gln		106985704	NM_001161520	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263606	0.80358	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.21191	2.03;2.03;2.02	5.49	5.49	0.81192	.	0.165377	0.53938	D	0.000055	T	0.26846	0.0657	L	0.45581	1.43	0.42409	D	0.992593	P;P	0.41848	0.76;0.763	P;B	0.45538	0.484;0.43	T	0.01630	-1.1308	10	0.37606	T	0.19	-19.7946	15.2645	0.73651	0.0:0.0:0.0:1.0	.	94;94	Q9UP83;Q9UP83-2	COG5_HUMAN;.	Q	94	ENSP00000334703:K94Q;ENSP00000297135:K94Q;ENSP00000377228:K94Q	ENSP00000297135:K94Q	K	-	1	0	COG5	106985704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.886000	0.69743	2.091000	0.63221	0.459000	0.35465	AAA		0.368	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4		
DUS4L	11062	broad.mit.edu	37	7	107216855	107216855	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:107216855C>T	ENST00000265720.3	+	7	886	c.524C>T	c.(523-525)gCt>gTt	p.A175V	DUS4L_ENST00000402620.1_Missense_Mutation_p.A54V	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	175							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)	p.A175V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TGTCAAAAGGCTGAAGCAACA	0.348																																					p.A175V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C524T	7						.						82.0	75.0	78.0					7																	107216855		2203	4300	6503	107004091	SO:0001583	missense	11062	exon7			U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.524C>T	7.37:g.107216855C>T	ENSP00000265720:p.Ala175Val		107004091	NM_181581	B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910413	0.17833	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.26810	1.71;1.71	6.01	5.12	0.69794	Aldolase-type TIM barrel (1);	0.261796	0.43416	N	0.000561	T	0.19167	0.0460	L	0.31664	0.95	0.58432	D	0.999991	B;B	0.09022	0.002;0.002	B;B	0.17722	0.019;0.019	T	0.04796	-1.0926	10	0.08599	T	0.76	.	15.6565	0.77140	0.0:0.9338:0.0:0.0662	.	175;175	A4D0R5;O95620	.;DUS4L_HUMAN	V	175;54	ENSP00000265720:A175V;ENSP00000385274:A54V	ENSP00000265720:A175V	A	+	2	0	DUS4L	107004091	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	3.699000	0.54778	1.529000	0.49120	0.650000	0.86243	GCT		0.348	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581	
SLC26A3	1811	broad.mit.edu	37	7	107427840	107427840	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:107427840C>T	ENST00000340010.5	-	7	1034	c.850G>A	c.(850-852)Gac>Aac	p.D284N	SLC26A3_ENST00000422236.2_Missense_Mutation_p.D249N	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	284					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.D284N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GGAAGTTTGTCTTTGAAGCGC	0.363																																					p.D284N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G850A	7						.						175.0	168.0	171.0					7																	107427840		2203	4300	6503	107215076	SO:0001583	missense	1811	exon7			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.850G>A	7.37:g.107427840C>T	ENSP00000345873:p.Asp284Asn		107215076	NM_000111		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291818	0.23564	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92965	-3.14;-3.14	5.4	1.4	0.22301	Sulphate transporter (1);	0.493874	0.25148	N	0.032768	T	0.82051	0.4953	N	0.19112	0.55	0.20074	N	0.999931	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.004	T	0.66380	-0.5938	10	0.23891	T	0.37	.	6.5494	0.22425	0.256:0.6053:0.0:0.1387	.	249;284	G5E9U3;P40879	.;S26A3_HUMAN	N	249;284	ENSP00000415817:D249N;ENSP00000345873:D284N	ENSP00000345873:D284N	D	-	1	0	SLC26A3	107215076	0.075000	0.21258	0.968000	0.41197	0.772000	0.43724	0.014000	0.13333	0.035000	0.15519	-0.140000	0.14226	GAC		0.363	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
LAMB1	3912	broad.mit.edu	37	7	107591673	107591673	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:107591673C>T	ENST00000222399.6	-	24	3619	c.3389G>A	c.(3388-3390)cGa>cAa	p.R1130Q	LAMB1_ENST00000393561.1_Missense_Mutation_p.R1154Q	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1130	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.R1130Q(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CAACTCACCTCGGCACTCCAC	0.552																																					p.R1130Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3389A	7						.						48.0	46.0	47.0					7																	107591673		2203	4300	6503	107378909	SO:0001583	missense	3912	exon24			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3389G>A	7.37:g.107591673C>T	ENSP00000222399:p.Arg1130Gln		107378909	NM_002291	Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328514	0.60743	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.31510	1.49;1.49	5.0	4.11	0.48088	EGF-like, laminin (2);	.	.	.	.	T	0.20700	0.0498	L	0.28608	0.87	0.80722	D	1	B;B	0.15473	0.013;0.003	B;B	0.18871	0.023;0.007	T	0.04781	-1.0927	9	0.30854	T	0.27	.	8.1967	0.31400	0.1462:0.7269:0.0:0.1269	.	1130;1154	P07942;G3XAI2	LAMB1_HUMAN;.	Q	1154;1130	ENSP00000377191:R1154Q;ENSP00000222399:R1130Q	ENSP00000222399:R1130Q	R	-	2	0	LAMB1	107378909	0.993000	0.37304	1.000000	0.80357	0.992000	0.81027	0.509000	0.22707	2.748000	0.94277	0.655000	0.94253	CGA		0.552	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
LAMB4	22798	broad.mit.edu	37	7	107696257	107696257	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:107696257G>A	ENST00000388781.3	-	25	3658	c.3575C>T	c.(3574-3576)gCg>gTg	p.A1192V	LAMB4_ENST00000205386.4_Missense_Mutation_p.A1192V|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1192V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1192	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.A1192V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCCTTGCACCGCTTTGGAGAG	0.512																																					p.A1192V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3575T	7						.						85.0	82.0	83.0					7																	107696257		2203	4300	6503	107483493	SO:0001583	missense	22798	exon25			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3575C>T	7.37:g.107696257G>A	ENSP00000373433:p.Ala1192Val		107483493	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	9.507	1.104823	0.20632	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.32988	1.43;1.43;1.85;1.45	4.92	-1.49	0.08718	.	0.149952	0.30809	N	0.008834	T	0.15392	0.0371	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.23442	0.085;0.01	B;B	0.15484	0.013;0.002	T	0.08994	-1.0695	10	0.59425	D	0.04	.	2.208	0.03941	0.3371:0.2109:0.3538:0.0982	.	1192;1192	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	V	1192;1192;218;1192	ENSP00000205386:A1192V;ENSP00000373433:A1192V;ENSP00000416562:A218V;ENSP00000373432:A1192V	ENSP00000205386:A1192V	A	-	2	0	LAMB4	107483493	0.023000	0.18921	0.000000	0.03702	0.729000	0.41735	0.784000	0.26816	-0.527000	0.06374	-0.727000	0.03589	GCG		0.512	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
LAMB4	22798	broad.mit.edu	37	7	107698277	107698277	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:107698277G>A	ENST00000388781.3	-	24	3462	c.3379C>T	c.(3379-3381)Cca>Tca	p.P1127S	LAMB4_ENST00000205386.4_Splice_Site_p.P1127S|LAMB4_ENST00000388780.3_Splice_Site_p.P1127S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1127	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.P1127S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAATACTTACGAATGCATCGC	0.443																																					p.P1127S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3379T	7						.						87.0	75.0	79.0					7																	107698277		2203	4300	6503	107485513	SO:0001630	splice_region_variant	22798	exon24			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3379+1C>T	7.37:g.107698277G>A			107485513	NM_007356	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	9.931	1.214861	0.22373	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.32988	1.43;1.43;1.52;1.45	5.33	-4.51	0.03483	EGF-like, laminin (2);	0.562244	0.16184	N	0.225708	T	0.19287	0.0463	L	0.48877	1.53	0.28315	N	0.922505	B;B	0.21452	0.02;0.056	B;B	0.13407	0.009;0.005	T	0.17228	-1.0376	9	.	.	.	.	7.6527	0.28358	0.444:0.2987:0.2573:0.0	.	1127;1127	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	S	1127;1127;153;1127	ENSP00000205386:P1127S;ENSP00000373433:P1127S;ENSP00000416562:P153S;ENSP00000373432:P1127S	.	P	-	1	0	LAMB4	107485513	0.002000	0.14202	0.001000	0.08648	0.084000	0.17831	-0.523000	0.06230	-0.705000	0.05035	0.563000	0.77884	CCA		0.443	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	Missense_Mutation
PNPLA8	50640	broad.mit.edu	37	7	108112984	108112984	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:108112984T>C	ENST00000422087.1	-	12	2616	c.2210A>G	c.(2209-2211)tAc>tGc	p.Y737C	PNPLA8_ENST00000453144.1_Missense_Mutation_p.Y637C|PNPLA8_ENST00000436062.1_Missense_Mutation_p.Y737C|PNPLA8_ENST00000257694.8_Missense_Mutation_p.Y737C|PNPLA8_ENST00000388728.5_Missense_Mutation_p.Y675C|PNPLA8_ENST00000426128.2_Missense_Mutation_p.Y675C	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	737					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.Y737C(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TCTTTCTATGTATTTCAACCC	0.299																																					p.Y737C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2210G	7						.						49.0	51.0	50.0					7																	108112984		2202	4300	6502	107900220	SO:0001583	missense	50640	exon12			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.2210A>G	7.37:g.108112984T>C	ENSP00000410804:p.Tyr737Cys		107900220	NM_015723	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301906	0.81136	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21;-1.21	5.57	5.57	0.84162	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	D	0.89805	0.6821	M	0.88979	2.995	0.42438	D	0.992705	D	0.89917	1.0	D	0.87578	0.998	D	0.91977	0.5591	10	0.87932	D	0	.	15.7295	0.77790	0.0:0.0:0.0:1.0	.	737	Q9NP80	PLPL8_HUMAN	C	672;737;675;737;637;737;637	ENSP00000257694:Y737C;ENSP00000373380:Y675C;ENSP00000410804:Y737C;ENSP00000387789:Y637C;ENSP00000406779:Y737C;ENSP00000402274:Y637C	ENSP00000257694:Y737C	Y	-	2	0	PNPLA8	107900220	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.642000	0.83385	2.104000	0.64026	0.528000	0.53228	TAC		0.299	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
DOCK4	9732	broad.mit.edu	37	7	111629104	111629104	+	Missense_Mutation	SNP	G	G	A	rs202157965		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:111629104G>A	ENST00000437633.1	-	6	686	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DOCK4_ENST00000428084.1_Missense_Mutation_p.R144C|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	144					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R132C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGTGGCGCTTCACGTCC	0.572																																					p.R144C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430T	7						.	G	CYS/ARG	0,4152		0,0,2076	65.0	67.0	66.0		430	4.8	1.0	7		66	3,8389		0,3,4193	yes	missense	DOCK4	NM_014705.3	180	0,3,6269	AA,AG,GG		0.0357,0.0,0.0239	possibly-damaging	144/1967	111629104	3,12541	2076	4196	6272	111416340	SO:0001583	missense	9732	exon6				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.430C>T	7.37:g.111629104G>A	ENSP00000404179:p.Arg144Cys		111416340	NM_014705	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536147	0.85812	0.0	3.57E-4	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03181	4.02;4.02	5.76	4.85	0.62838	.	0.117594	0.64402	D	0.000013	T	0.11153	0.0272	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.55455	0.586;0.776;0.772;0.696	T	0.00115	-1.2039	10	0.72032	D	0.01	.	13.1119	0.59278	0.0:0.0:0.7138:0.2862	.	144;144;144;144	A4D0S8;Q149N6;Q149N5;Q8N1I0	.;.;.;DOCK4_HUMAN	C	132;144;144;132;143	ENSP00000410746:R144C;ENSP00000404179:R144C	ENSP00000345432:R132C	R	-	1	0	DOCK4	111416340	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.688000	0.74557	2.706000	0.92434	0.655000	0.94253	CGC		0.572	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
PPP1R3A	5506	broad.mit.edu	37	7	113558388	113558388	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:113558388T>C	ENST00000284601.3	-	1	732	c.664A>G	c.(664-666)Aat>Gat	p.N222D		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	222	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.N222D(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGCCATTATTATTTGACCAA	0.343																																					p.N222D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A664G	7						.						108.0	108.0	108.0					7																	113558388		2203	4299	6502	113345624	SO:0001583	missense	5506	exon1			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.664A>G	7.37:g.113558388T>C	ENSP00000284601:p.Asn222Asp		113345624	NM_002711	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309960	0.81247	.	.	ENSG00000154415	ENST00000284601	T	0.75704	-0.96	6.08	6.08	0.98989	Putative phosphatase regulatory subunit (2);	0.000000	0.85682	D	0.000000	D	0.89918	0.6854	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92202	0.5769	10	0.72032	D	0.01	-0.608	16.6512	0.85203	0.0:0.0:0.0:1.0	.	222	Q16821	PPR3A_HUMAN	D	222	ENSP00000284601:N222D	ENSP00000284601:N222D	N	-	1	0	PPP1R3A	113345624	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.503000	0.81632	2.333000	0.79357	0.482000	0.46254	AAT		0.343	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
MDFIC	29969	broad.mit.edu	37	7	114655785	114655785	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:114655785C>T	ENST00000393486.1	+	5	1127	c.537C>T	c.(535-537)ttC>ttT	p.F179F	MDFIC_ENST00000257724.3_Silent_p.F288F	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing									p.F288F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TCTGCGAATTCCTGACCCTTT	0.473																																					p.F288F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C864T	7						.						403.0	383.0	390.0					7																	114655785		2203	4300	6503	114443021	SO:0001819	synonymous_variant	29969	exon5			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.537C>T	7.37:g.114655785C>T			114443021	NM_199072		Silent	SNP	ENST00000393486.1	37	CCDS55155.1																																																																																				0.473	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072	
THSD7A	221981	broad.mit.edu	37	7	11581115	11581115	+	Missense_Mutation	SNP	C	C	T	rs370197184		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:11581115C>T	ENST00000423059.4	-	6	2004	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	585					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E585K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTATCTGGCTCGCAGTTTCCC	0.493										HNSCC(18;0.044)																											p.E585K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1753A	7						.	C	LYS/GLU	1,3993		0,1,1996	102.0	101.0	102.0		1753	4.7	1.0	7		102	0,8326		0,0,4163	no	missense	THSD7A	NM_015204.2	56	0,1,6159	TT,TC,CC		0.0,0.025,0.0081	benign	585/1658	11581115	1,12319	1997	4163	6160	11547640	SO:0001583	missense	221981	exon6				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1753G>A	7.37:g.11581115C>T	ENSP00000406482:p.Glu585Lys		11547640	NM_015204		Missense_Mutation	SNP	ENST00000423059.4	37	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964990	0.53507	2.5E-4	0.0	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58060	0.36	5.63	4.7	0.59300	.	0.216230	0.46145	D	0.000319	T	0.33352	0.0860	N	0.22421	0.69	0.26878	N	0.967607	B	0.24132	0.098	B	0.23716	0.048	T	0.07849	-1.0751	10	0.24483	T	0.36	.	6.469	0.21997	0.0:0.6649:0.1543:0.1808	.	585	Q9UPZ6	THS7A_HUMAN	K	585	ENSP00000406482:E585K	ENSP00000262042:E585K	E	-	1	0	THSD7A	11547640	0.496000	0.26059	1.000000	0.80357	0.952000	0.60782	0.487000	0.22356	2.798000	0.96311	0.655000	0.94253	GAG		0.493	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2	
TFEC	22797	broad.mit.edu	37	7	115582052	115582052	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:115582052C>A	ENST00000265440.7	-	7	738	c.558G>T	c.(556-558)gtG>gtT	p.V186V	TFEC_ENST00000393485.1_Silent_p.V157V|TFEC_ENST00000320239.7_Silent_p.V157V|TFEC_ENST00000484212.1_Silent_p.V276V|TFEC_ENST00000457268.1_Silent_p.V119V	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	186	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V186V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGATGTACTCCACTGATGCTT	0.418																																					p.V157V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G471T	7						.						222.0	208.0	213.0					7																	115582052		2203	4300	6503	115369288	SO:0001819	synonymous_variant	22797	exon6			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.558G>T	7.37:g.115582052C>A			115369288	NM_001018058	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Silent	SNP	ENST00000265440.7	37	CCDS5762.1																																																																																				0.418	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252	
MET	4233	broad.mit.edu	37	7	116339821	116339821	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:116339821T>G	ENST00000318493.6	+	2	870	c.683T>G	c.(682-684)tTt>tGt	p.F228C	MET_ENST00000436117.2_Missense_Mutation_p.F228C|MET_ENST00000397752.3_Missense_Mutation_p.F228C			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F228C(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GGTTTTATGTTTTTGACGGAC	0.358			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																												p.F228C			Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T683G	7						.						192.0	191.0	191.0					7																	116339821		1899	4114	6013	116127057	SO:0001583	missense	4233	exon2	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.683T>G	7.37:g.116339821T>G	ENSP00000317272:p.Phe228Cys		116127057	NM_000245	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	16.91	3.251967	0.59212	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.10960	2.82;2.82;2.82	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.048192	0.85682	D	0.000000	T	0.38612	0.1047	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;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;D;D;D	0.91635	0.993;0.998;0.995;0.998;0.998;0.998;0.998;0.998;0.999;0.992;0.998;0.999;0.999	T	0.38950	-0.9637	10	0.87932	D	0	.	11.8437	0.52371	0.1305:0.0:0.0:0.8695	.	228;228;228;228;228;228;228;228;228;228;228;228;228	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	C	228	ENSP00000380860:F228C;ENSP00000317272:F228C;ENSP00000410980:F228C	ENSP00000317272:F228C	F	+	2	0	MET	116127057	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.771000	0.68881	2.371000	0.80710	0.533000	0.62120	TTT		0.358	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
ING3	54556	broad.mit.edu	37	7	120607994	120607994	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:120607994G>A	ENST00000315870.5	+	8	711	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	ING3_ENST00000431467.1_Missense_Mutation_p.R173Q	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	188					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R188Q(1)		NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACAGGTTGTCGAAATAATAAT	0.363																																					p.R188Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G563A	7						.						78.0	80.0	79.0					7																	120607994		2203	4300	6503	120395230	SO:0001583	missense	54556	exon8			AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.563G>A	7.37:g.120607994G>A	ENSP00000320566:p.Arg188Gln		120395230	NM_019071	A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102295	0.94245	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	T;T	0.46063	0.88;0.88	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.70595	2.14	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.52741	-0.8535	10	0.13470	T	0.59	-11.7225	20.3465	0.98790	0.0:0.0:1.0:0.0	.	188	Q9NXR8	ING3_HUMAN	Q	188;173	ENSP00000320566:R188Q;ENSP00000388506:R173Q	ENSP00000320566:R188Q	R	+	2	0	ING3	120395230	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.414000	0.80117	2.798000	0.96311	0.655000	0.94253	CGA		0.363	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2	NM_019071	
CPED1	79974	broad.mit.edu	37	7	120704295	120704295	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:120704295A>C	ENST00000310396.5	+	5	1011	c.544A>C	c.(544-546)Aac>Cac	p.N182H	CPED1_ENST00000423795.1_5'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.N182H	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	182						endoplasmic reticulum (GO:0005783)		p.N182H(1)									CTTTCAGGCAAACAGATTACC	0.393																																					p.N182H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A544C	7						.						95.0	95.0	95.0					7																	120704295		2203	4300	6503	120491531	SO:0001583	missense	79974	exon5				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.544A>C	7.37:g.120704295A>C	ENSP00000309772:p.Asn182His		120491531	NM_024913	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994612	0.54041	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913	T;T;T	0.48522	0.81;0.81;0.81	5.68	5.68	0.88126	.	0.104089	0.64402	D	0.000005	T	0.66665	0.2812	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	T	0.70059	-0.4976	10	0.72032	D	0.01	-9.0635	12.3177	0.54966	1.0:0.0:0.0:0.0	.	182;182	A4D0V7-2;A4D0V7	.;CG058_HUMAN	H	182	ENSP00000309772:N182H;ENSP00000398082:N182H;ENSP00000406122:N182H	ENSP00000309772:N182H	N	+	1	0	C7orf58	120491531	1.000000	0.71417	0.992000	0.48379	0.386000	0.30323	5.154000	0.64894	2.161000	0.67846	0.460000	0.39030	AAC		0.393	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
CPED1	79974	broad.mit.edu	37	7	120935621	120935621	+	Missense_Mutation	SNP	C	C	T	rs201789315		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:120935621C>T	ENST00000310396.5	+	23	3463	c.2996C>T	c.(2995-2997)tCg>tTg	p.S999L		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	999						endoplasmic reticulum (GO:0005783)		p.S999W(1)|p.S999L(1)									AATTTTCGATCGCCATATCAT	0.363													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21841	0.0		0.0	False		,,,				2504	0.0				p.S999L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C2996T	7						.						105.0	99.0	101.0					7																	120935621		2203	4300	6503	120722857	SO:0001583	missense	79974	exon23				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2996C>T	7.37:g.120935621C>T	ENSP00000309772:p.Ser999Leu		120722857	NM_024913	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.53	3.643160	0.67244	.	.	ENSG00000106034	ENST00000310396	T	0.18960	2.18	5.65	5.65	0.86999	.	0.172404	0.40144	N	0.001173	T	0.49457	0.1558	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43750	-0.9372	10	0.66056	D	0.02	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	999	A4D0V7	CG058_HUMAN	L	999	ENSP00000309772:S999L	ENSP00000309772:S999L	S	+	2	0	C7orf58	120722857	1.000000	0.71417	0.398000	0.26321	0.158000	0.22134	3.726000	0.54977	2.824000	0.97209	0.655000	0.94253	TCG		0.363	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
PTPRZ1	5803	broad.mit.edu	37	7	121651787	121651787	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:121651787C>A	ENST00000393386.2	+	12	3098	c.2687C>A	c.(2686-2688)tCt>tAt	p.S896Y	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	896					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S896Y(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGTAGTGAATCTGGTGTTCTT	0.473																																					p.S896Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2687A	7						.						102.0	89.0	94.0					7																	121651787		2203	4300	6503	121439023	SO:0001583	missense	5803	exon12			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2687C>A	7.37:g.121651787C>A	ENSP00000377047:p.Ser896Tyr		121439023	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741146	0.30865	.	.	ENSG00000106278	ENST00000393386	T	0.44881	0.91	5.86	4.8	0.61643	.	0.836288	0.10837	N	0.628626	T	0.39279	0.1072	L	0.36672	1.1	0.80722	D	1	B	0.33379	0.41	B	0.38712	0.28	T	0.30149	-0.9988	10	0.72032	D	0.01	.	10.7346	0.46117	0.0:0.9007:0.0:0.0992	.	896	P23471	PTPRZ_HUMAN	Y	896	ENSP00000377047:S896Y	ENSP00000377047:S896Y	S	+	2	0	PTPRZ1	121439023	0.989000	0.36119	0.916000	0.36221	0.991000	0.79684	1.253000	0.32886	2.774000	0.95407	0.650000	0.86243	TCT		0.473	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
RNF148	378925	broad.mit.edu	37	7	122342057	122342057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:122342057C>T	ENST00000434824.1	-	1	964	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF133_ENST00000340112.2_5'Flank|RNF148_ENST00000447240.1_3'UTR	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	250						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E250K(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGGTCTAATTCCTCATCCCCT	0.403																																					p.E250K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G748A	7						.						113.0	105.0	108.0					7																	122342057		1902	4127	6029	122129293	SO:0001583	missense	378925	exon1			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.748G>A	7.37:g.122342057C>T	ENSP00000388207:p.Glu250Lys		122129293	NM_198085	A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545410	0.65198	.	.	ENSG00000235631	ENST00000434824	T	0.68331	-0.32	5.37	5.37	0.77165	Zinc finger, RING-H2-type (1);	.	.	.	.	T	0.79263	0.4416	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.80372	-0.1410	9	0.59425	D	0.04	.	13.4346	0.61076	0.0:0.8425:0.1575:0.0	.	250	Q8N7C7	RN148_HUMAN	K	250	ENSP00000388207:E250K	ENSP00000388207:E250K	E	-	1	0	RNF148	122129293	0.990000	0.36364	1.000000	0.80357	0.407000	0.30961	3.131000	0.50515	2.510000	0.84645	0.561000	0.74099	GAA		0.403	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085	
IQUB	154865	broad.mit.edu	37	7	123143151	123143151	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:123143151C>A	ENST00000466202.1	-	5	1290	c.714G>T	c.(712-714)caG>caT	p.Q238H	IQUB_ENST00000434450.1_Missense_Mutation_p.Q238H|IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000324698.6_Missense_Mutation_p.Q238H	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	238					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.Q238H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CAACAGGTACCTGCTGGTATT	0.368																																					p.Q238H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G714T	7						.						89.0	89.0	89.0					7																	123143151		2203	4300	6503	122930387	SO:0001583	missense	154865	exon5			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.714G>T	7.37:g.123143151C>A	ENSP00000417769:p.Gln238His		122930387	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	5.402	0.259441	0.10239	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.44083	1.93;1.93;0.93	5.31	-2.04	0.07343	.	0.272838	0.34002	N	0.004352	T	0.17831	0.0428	N	0.14661	0.345	0.21878	N	0.999492	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.002	T	0.08330	-1.0727	10	0.72032	D	0.01	.	0.303	0.00276	0.2536:0.1958:0.2767:0.2739	.	238;238	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	H	238	ENSP00000417769:Q238H;ENSP00000324882:Q238H;ENSP00000388498:Q238H	ENSP00000324882:Q238H	Q	-	3	2	IQUB	122930387	0.996000	0.38824	0.003000	0.11579	0.076000	0.17211	0.522000	0.22909	-0.563000	0.06078	0.655000	0.94253	CAG		0.368	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
WASL	8976	broad.mit.edu	37	7	123334886	123334886	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:123334886C>T	ENST00000223023.4	-	8	1041	c.709G>A	c.(709-711)Gat>Aat	p.D237N		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	237					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.D237N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACACATATCGAAAAGATTC	0.284																																					p.D237N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G709A	7						.						132.0	146.0	141.0					7																	123334886		2203	4300	6503	123122122	SO:0001583	missense	8976	exon8			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.709G>A	7.37:g.123334886C>T	ENSP00000223023:p.Asp237Asn		123122122	NM_003941	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667977	0.88348	.	.	ENSG00000106299	ENST00000223023	D	0.85773	-2.03	5.87	5.87	0.94306	Wiscott-Aldrich syndrome, C-terminal (1);PAK-box/P21-Rho-binding (2);	0.000000	0.85682	D	0.000000	D	0.83440	0.5255	N	0.03983	-0.305	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.82532	-0.0410	10	0.18710	T	0.47	-23.9698	20.1793	0.98193	0.0:1.0:0.0:0.0	.	237	O00401	WASL_HUMAN	N	237	ENSP00000223023:D237N	ENSP00000223023:D237N	D	-	1	0	WASL	123122122	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.728000	0.84847	2.779000	0.95612	0.585000	0.79938	GAT		0.284	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941	
GRM8	2918	broad.mit.edu	37	7	126173855	126173855	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:126173855T>C	ENST00000339582.2	-	9	2389	c.1581A>G	c.(1579-1581)aaA>aaG	p.K527K	GRM8_ENST00000358373.3_Silent_p.K527K|GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Silent_p.K527K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	527					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.K527K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CTTTCACCGTTTTCTTCCTCT	0.537										HNSCC(24;0.065)																											p.K527K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1581G	7						.						84.0	84.0	84.0					7																	126173855		2203	4300	6503	125961091	SO:0001819	synonymous_variant	2918	exon9				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1581A>G	7.37:g.126173855T>C			125961091	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.537	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
GRM8	2918	broad.mit.edu	37	7	126544692	126544692	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:126544692C>A	ENST00000339582.2	-	4	1581	c.773G>T	c.(772-774)aGa>aTa	p.R258I	GRM8_ENST00000358373.3_Missense_Mutation_p.R258I|GRM8_ENST00000405249.1_Missense_Mutation_p.R258I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R258I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	258					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R258I(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TTCTCCAGGTCTTGGTTCACG	0.393										HNSCC(24;0.065)																											p.R258I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G773T	7						.						95.0	94.0	94.0					7																	126544692		2203	4300	6503	126331928	SO:0001583	missense	2918	exon4				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.773G>T	7.37:g.126544692C>A	ENSP00000344173:p.Arg258Ile		126331928	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674633	0.47781	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.24	4.36	0.52297	Extracellular ligand-binding receptor (1);	0.103125	0.64402	D	0.000004	T	0.77068	0.4076	L	0.39020	1.185	0.58432	D	0.999999	P;B	0.43094	0.799;0.139	P;B	0.44990	0.466;0.216	T	0.73421	-0.3988	10	0.32370	T	0.25	.	9.2269	0.37412	0.0:0.8362:0.0:0.1638	.	258;258	O00222-2;O00222	.;GRM8_HUMAN	I	258	ENSP00000344173:R258I;ENSP00000409790:R258I;ENSP00000351142:R258I;ENSP00000385731:R258I;ENSP00000415522:R258I	ENSP00000344173:R258I	R	-	2	0	GRM8	126331928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.688000	0.46984	1.201000	0.43203	0.557000	0.71058	AGA		0.393	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
GRM8	2918	broad.mit.edu	37	7	126746620	126746620	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:126746620C>T	ENST00000339582.2	-	3	1465	c.657G>A	c.(655-657)tcG>tcA	p.S219S	GRM8_ENST00000358373.3_Silent_p.S219S|GRM8_ENST00000405249.1_Silent_p.S219S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.S219S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	219					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S219S(4)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AAGCCAGTGTCGAAACATAAT	0.493										HNSCC(24;0.065)																											p.S219S												.	.	4	Substitution - coding silent(4)	large_intestine(3)|ovary(1)	c.G657A	7						.						137.0	119.0	125.0					7																	126746620		2203	4300	6503	126533856	SO:0001819	synonymous_variant	2918	exon3				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.657G>A	7.37:g.126746620C>T			126533856	NM_001127323	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
LRRC4	64101	broad.mit.edu	37	7	127670216	127670216	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:127670216C>T	ENST00000249363.3	-	2	735	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	160					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)		p.E160K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGATGCTTTCGATGGGGTTG	0.577																																					p.E160K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G478A	7						.						69.0	74.0	72.0					7																	127670216		2203	4300	6503	127457452	SO:0001583	missense	64101	exon2			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.478G>A	7.37:g.127670216C>T	ENSP00000249363:p.Glu160Lys		127457452	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482635	0.63962	.	.	ENSG00000128594	ENST00000249363;ENST00000494115	D;T	0.90955	-2.76;-0.15	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	D	0.83083	0.5177	N	0.21142	0.635	0.80722	D	1	D	0.54397	0.966	B	0.43103	0.408	T	0.81335	-0.0979	10	0.09843	T	0.71	.	14.8699	0.70448	0.0:1.0:0.0:0.0	.	160	Q9HBW1	LRRC4_HUMAN	K	160;78	ENSP00000249363:E160K;ENSP00000418254:E78K	ENSP00000249363:E160K	E	-	1	0	LRRC4	127457452	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.600000	0.82769	2.316000	0.78162	0.655000	0.94253	GAA		0.577	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
CCDC136	64753	broad.mit.edu	37	7	128445857	128445857	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:128445857C>T	ENST00000297788.4	+	7	1358	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C	CCDC136_ENST00000378685.4_Missense_Mutation_p.R369C|CCDC136_ENST00000464832.1_Missense_Mutation_p.R381C|CCDC136_ENST00000487361.1_Missense_Mutation_p.R331C	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	331	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R331C(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						ACAGCATCATCGCCAGGTCAG	0.522																																					p.R331C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C991T	7						.						67.0	74.0	72.0					7																	128445857		2146	4261	6407	128233093	SO:0001583	missense	64753	exon7				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.991C>T	7.37:g.128445857C>T	ENSP00000297788:p.Arg331Cys		128233093	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262076	0.80358	.	.	ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524	T;T;T;T	0.79141	0.91;0.9;-1.24;1.45	5.56	5.56	0.83823	.	0.108203	0.64402	D	0.000006	D	0.84138	0.5406	L	0.51422	1.61	0.49582	D	0.999805	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.66196	0.911;0.942;0.855	T	0.82868	-0.0244	10	0.39692	T	0.17	-10.5503	17.0098	0.86403	0.0:1.0:0.0:0.0	.	331;331;369	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	C	369;381;331;331;331;331	ENSP00000367956:R369C;ENSP00000419515:R381C;ENSP00000420509:R331C;ENSP00000297788:R331C	ENSP00000297788:R331C	R	+	1	0	CCDC136	128233093	0.989000	0.36119	0.973000	0.42090	0.811000	0.45836	3.929000	0.56514	2.621000	0.88768	0.655000	0.94253	CGC		0.522	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
TSPAN33	340348	broad.mit.edu	37	7	128804397	128804397	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:128804397T>G	ENST00000289407.4	+	5	555	c.446T>G	c.(445-447)tTt>tGt	p.F149C	Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	149					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.F149C(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CTCATTGATTTTGGCCAGAAA	0.522											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F149C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T446G	7						.						167.0	152.0	157.0					7																	128804397		2203	4300	6503	128591633	SO:0001583	missense	340348	exon5				CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.446T>G	7.37:g.128804397T>G	ENSP00000289407:p.Phe149Cys	1567	128591633	NM_178562		Missense_Mutation	SNP	ENST00000289407.4	37	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494492	0.64186	.	.	ENSG00000158457	ENST00000289407	T	0.78924	-1.22	5.75	4.59	0.56863	Tetraspanin, EC2 domain (1);	0.105189	0.64402	D	0.000003	D	0.86847	0.6031	M	0.87827	2.91	0.51012	D	0.999902	D	0.54772	0.968	P	0.61275	0.886	D	0.86547	0.1832	10	0.46703	T	0.11	-13.573	10.5686	0.45188	0.1443:0.0:0.0:0.8557	.	149	Q86UF1	TSN33_HUMAN	C	149	ENSP00000289407:F149C	ENSP00000289407:F149C	F	+	2	0	TSPAN33	128591633	0.986000	0.35501	1.000000	0.80357	0.950000	0.60333	1.267000	0.33050	0.990000	0.38787	0.533000	0.62120	TTT		0.522	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562	
CPA1	1357	broad.mit.edu	37	7	130025155	130025155	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:130025155A>C	ENST00000011292.3	+	8	1106	c.956A>C	c.(955-957)aAa>aCa	p.K319T	CPA1_ENST00000484324.1_Missense_Mutation_p.K231T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	319					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K319T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TATGGCTACAAAACAGAACCA	0.557																																					p.K319T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A956C	7						.						160.0	143.0	149.0					7																	130025155		2203	4300	6503	129812391	SO:0001583	missense	1357	exon8				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.956A>C	7.37:g.130025155A>C	ENSP00000011292:p.Lys319Thr		129812391	NM_001868	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	ENST00000011292.3	37	CCDS5820.1	.	.	.	.	.	.	.	.	.	.	A	8.697	0.908929	0.17833	.	.	ENSG00000091704	ENST00000011292;ENST00000476062;ENST00000484324	T;T;T	0.02837	4.14;4.14;4.14	5.68	-4.03	0.04021	Peptidase M14, carboxypeptidase A (2);	0.248175	0.47852	N	0.000220	T	0.00998	0.0033	N	0.00382	-1.575	0.24522	N	0.994153	B;B	0.06786	0.001;0.0	B;B	0.10450	0.004;0.005	T	0.52601	-0.8554	10	0.02654	T	1	.	26.1719	0.99996	0.1102:0.8898:0.0:0.0	.	319;231	P15085;C9JUF9	CBPA1_HUMAN;.	T	319;231;231	ENSP00000011292:K319T;ENSP00000419408:K231T;ENSP00000419497:K231T	ENSP00000011292:K319T	K	+	2	0	CPA1	129812391	0.000000	0.05858	0.032000	0.17829	0.641000	0.38312	-0.050000	0.11904	-0.328000	0.08539	0.533000	0.62120	AAA		0.557	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349736.2	NM_001868	
PLXNA4	91584	broad.mit.edu	37	7	131866933	131866933	+	Missense_Mutation	SNP	C	C	T	rs201451359		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:131866933C>T	ENST00000359827.3	-	17	4137	c.3175G>A	c.(3175-3177)Gcc>Acc	p.A1059T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1059T			Q9HCM2	PLXA4_HUMAN	plexin A4	1059	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A1059T(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCCATACGGCGATGGGTGTG	0.507																																					p.A1059T												.	.	4	Substitution - Missense(4)	large_intestine(2)|lung(2)	c.G3175A	7						.	C	THR/ALA	0,3896		0,0,1948	121.0	124.0	123.0		3175	4.6	0.9	7		123	2,8296		0,2,4147	yes	missense	PLXNA4	NM_020911.1	58	0,2,6095	TT,TC,CC		0.0241,0.0,0.0164	benign	1059/1895	131866933	2,12192	1948	4149	6097	131517473	SO:0001583	missense	91584	exon17			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3175G>A	7.37:g.131866933C>T	ENSP00000352882:p.Ala1059Thr		131517473	NM_020911	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	0.394	-0.922126	0.02396	0.0	2.41E-4	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.66638	-0.22;-0.22	5.43	4.56	0.56223	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.290065	0.38272	N	0.001757	T	0.21145	0.0509	N	0.00151	-1.98	0.32288	N	0.566674	B	0.02656	0.0	B	0.04013	0.001	T	0.36311	-0.9753	10	0.02654	T	1	.	6.4352	0.21819	0.1474:0.7029:0.0:0.1497	.	1059	Q9HCM2	PLXA4_HUMAN	T	1059	ENSP00000323194:A1059T;ENSP00000352882:A1059T	ENSP00000323194:A1059T	A	-	1	0	PLXNA4	131517473	0.079000	0.21365	0.920000	0.36463	0.179000	0.23085	0.642000	0.24735	1.304000	0.44892	0.561000	0.74099	GCC		0.507	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
PLXNA4	91584	broad.mit.edu	37	7	132192500	132192500	+	Missense_Mutation	SNP	G	G	A	rs199889502	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:132192500G>A	ENST00000359827.3	-	2	1915	c.953C>T	c.(952-954)gCg>gTg	p.A318V	PLXNA4_ENST00000378539.5_Missense_Mutation_p.A318V|PLXNA4_ENST00000321063.4_Missense_Mutation_p.A318V|PLXNA4_ENST00000423507.2_Missense_Mutation_p.A318V			Q9HCM2	PLXA4_HUMAN	plexin A4	318	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A318V(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACGGCCCCCGCTTTGGACAG	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		19478	0.0		0.0	False		,,,				2504	0.002				p.A318V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C953T	7						.	G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	56.0	49.0	52.0		953,953,953	4.8	0.9	7		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLXNA4	NM_001105543.1,NM_020911.1,NM_181775.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	318/493,318/1895,318/523	132192500	1,13005	2203	4300	6503	131843040	SO:0001583	missense	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.953C>T	7.37:g.132192500G>A	ENSP00000352882:p.Ala318Val		131843040	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102952	0.37145	0.0	1.16E-4	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.05139	3.49;3.49;3.49;3.49	5.72	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000007	T	0.16981	0.0408	L	0.55213	1.73	0.80722	D	1	P;D;D	0.60160	0.939;0.978;0.987	P;P;P	0.58077	0.54;0.832;0.817	T	0.00899	-1.1522	10	0.39692	T	0.17	.	16.109	0.81247	0.0:0.0:0.8651:0.1349	.	318;318;318	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	V	318	ENSP00000323194:A318V;ENSP00000352882:A318V;ENSP00000392772:A318V;ENSP00000367800:A318V	ENSP00000323194:A318V	A	-	2	0	PLXNA4	131843040	1.000000	0.71417	0.891000	0.34965	0.102000	0.19082	9.864000	0.99589	1.407000	0.46875	-0.182000	0.12963	GCG		0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
LRGUK	136332	broad.mit.edu	37	7	133859362	133859362	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:133859362C>A	ENST00000285928.2	+	8	1063	c.994C>A	c.(994-996)Ctc>Atc	p.L332I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	332						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.L332I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCTTCGAGTTCTCAATCTTCT	0.358																																					p.L332I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C994A	7						.						60.0	71.0	67.0					7																	133859362		2201	4299	6500	133509902	SO:0001583	missense	136332	exon8			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.994C>A	7.37:g.133859362C>A	ENSP00000285928:p.Leu332Ile		133509902	NM_144648	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.928119	0.34002	.	.	ENSG00000155530	ENST00000285928	T	0.56611	0.45	5.37	4.49	0.54785	.	0.182148	0.36101	N	0.002796	T	0.52008	0.1708	M	0.65975	2.015	0.36224	D	0.852202	P	0.40431	0.717	B	0.38020	0.263	T	0.64453	-0.6404	10	0.46703	T	0.11	-8.6556	15.0692	0.72021	0.0:0.8571:0.1429:0.0	.	332	Q96M69	LRGUK_HUMAN	I	332	ENSP00000285928:L332I	ENSP00000285928:L332I	L	+	1	0	LRGUK	133509902	0.945000	0.32115	0.998000	0.56505	0.473000	0.32948	0.950000	0.29122	1.256000	0.44068	0.462000	0.41574	CTC		0.358	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
CALD1	800	broad.mit.edu	37	7	134642974	134642974	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:134642974C>T	ENST00000361675.2	+	11	2223	c.1994C>T	c.(1993-1995)tCg>tTg	p.S665L	CALD1_ENST00000422748.1_Missense_Mutation_p.S435L|CALD1_ENST00000393118.2_Missense_Mutation_p.S430L|CALD1_ENST00000417172.1_Missense_Mutation_p.S410L|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.S404L|CALD1_ENST00000361388.2_Missense_Mutation_p.S436L|CALD1_ENST00000361901.2_Missense_Mutation_p.S410L|CALD1_ENST00000495522.1_Missense_Mutation_p.S429L|CALD1_ENST00000543443.1_Missense_Mutation_p.S415L			Q05682	CALD1_HUMAN	caldesmon 1	665	Strong actin-binding. {ECO:0000250}.|Tropomyosin-binding. {ECO:0000255}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.S665L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GGTGTCAAATCGACCCATCAA	0.403																																					p.S435L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1304T	7						.						185.0	182.0	183.0					7																	134642974		2203	4300	6503	134293514	SO:0001583	missense	800	exon11			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1994C>T	7.37:g.134642974C>T	ENSP00000354826:p.Ser665Leu		134293514	NM_033157	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564429	0.45694	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.51	4.44	0.53790	.	0.370813	0.19505	N	0.112654	T	0.38957	0.1060	L	0.33710	1.025	0.28934	N	0.891377	P;P;P;P;P;P;P;P;P;B	0.40660	0.726;0.68;0.726;0.726;0.68;0.68;0.68;0.68;0.726;0.288	B;B;B;B;B;B;B;B;B;B	0.38500	0.275;0.127;0.201;0.201;0.127;0.127;0.061;0.127;0.159;0.156	T	0.39482	-0.9612	10	0.45353	T	0.12	-2.1393	15.2105	0.73219	0.0:0.921:0.0:0.079	.	359;415;435;429;404;430;410;436;665;410	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	L	410;410;436;435;43;665;410;430;404;429;415	ENSP00000398826:S410L;ENSP00000411476:S410L;ENSP00000355000:S436L;ENSP00000395710:S435L;ENSP00000354826:S665L;ENSP00000354513:S410L;ENSP00000376826:S430L;ENSP00000393621:S404L;ENSP00000419673:S429L;ENSP00000445641:S415L	ENSP00000355000:S436L	S	+	2	0	CALD1	134293514	0.812000	0.29077	1.000000	0.80357	0.978000	0.69477	2.295000	0.43576	2.589000	0.87451	0.655000	0.94253	TCG		0.403	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
C7orf49	78996	broad.mit.edu	37	7	134851541	134851541	+	Missense_Mutation	SNP	G	G	A	rs139566611	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:134851541G>A	ENST00000393114.3	-	4	477	c.296C>T	c.(295-297)tCg>tTg	p.S99L	C7orf49_ENST00000430372.1_Missense_Mutation_p.S98L|C7orf49_ENST00000483029.2_Missense_Mutation_p.S44L|C7orf49_ENST00000459937.1_Intron|RP11-134L10.1_ENST00000608819.1_RNA|C7orf49_ENST00000424142.1_Missense_Mutation_p.S44L			Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	99						cytoplasm (GO:0005737)		p.S71L(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGTGTGAGGCGACACGGAGCA	0.642																																					p.S99L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C296T	7						.	G	LEU/SER	0,4406		0,0,2203	64.0	69.0	68.0		296	4.4	0.0	7	dbSNP_134	68	5,8595	4.3+/-15.6	0,5,4295	no	missense	C7orf49	NM_024033.3	145	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	possibly-damaging	99/158	134851541	5,13001	2203	4300	6503	134502081	SO:0001583	missense	78996	exon4			BC000168	CCDS5838.2, CCDS59082.1, CCDS75663.1	7q33	2011-12-09			ENSG00000122783	ENSG00000122783			22432	protein-coding gene	gene with protein product	"""modulator of retrovirus infection"""					17043244	Standard	NM_001243755		Approved	MGC5242, FLJ27285, FLJ22450, MRI	uc003vsh.3	Q9BWK5	OTTHUMG00000155447	ENST00000393114.3:c.296C>T	7.37:g.134851541G>A	ENSP00000376823:p.Ser99Leu		134502081	NM_024033	Q6NWZ4|Q6ZNR5	Missense_Mutation	SNP	ENST00000393114.3	37	CCDS5838.2	.	.	.	.	.	.	.	.	.	.	G	9.354	1.066180	0.20067	0.0	5.81E-4	ENSG00000122783	ENST00000435834;ENST00000424142;ENST00000393114;ENST00000430372	.	.	.	5.26	4.36	0.52297	.	0.750126	0.11868	N	0.521690	T	0.43743	0.1261	L	0.38531	1.155	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.55303	0.773;0.773;0.773	T	0.15065	-1.0450	9	0.09843	T	0.71	-5.7325	11.8517	0.52415	0.0:0.1765:0.8235:0.0	.	98;99;70	C9JKC7;Q9BWK5;Q9BWK5-2	.;MRI_HUMAN;.	L	44;44;99;98	.	ENSP00000376823:S99L	S	-	2	0	C7orf49	134502081	0.072000	0.21174	0.002000	0.10522	0.244000	0.25665	2.833000	0.48159	1.180000	0.42898	0.563000	0.77884	TCG		0.642	C7orf49-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340145.1	NM_024033	
WDR91	29062	broad.mit.edu	37	7	134890782	134890782	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:134890782C>T	ENST00000354475.4	-	5	654	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000423565.1_Missense_Mutation_p.R173Q|WDR91_ENST00000344400.5_Missense_Mutation_p.R208Q	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	208								p.R208Q(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTTCTTCAGTCGGTGGATTTC	0.507																																					p.R208Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G623A	7						.						274.0	241.0	253.0					7																	134890782		2203	4300	6503	134541322	SO:0001583	missense	29062	exon5			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.623G>A	7.37:g.134890782C>T	ENSP00000346466:p.Arg208Gln		134541322	NM_014149	A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118223	0.56505	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91351	-2.83;-2.83;-2.83	5.48	3.67	0.42095	.	0.230458	0.37053	N	0.002276	D	0.82898	0.5137	N	0.24115	0.695	0.49483	D	0.999799	B	0.13145	0.007	B	0.06405	0.002	T	0.75300	-0.3366	10	0.31617	T	0.26	-17.6176	12.2612	0.54651	0.0:0.8612:0.0:0.1388	.	208	A4D1P6	WDR91_HUMAN	Q	208;208;173	ENSP00000340877:R208Q;ENSP00000346466:R208Q;ENSP00000392555:R173Q	ENSP00000340877:R208Q	R	-	2	0	WDR91	134541322	0.978000	0.34361	0.958000	0.39756	0.985000	0.73830	2.417000	0.44653	0.782000	0.33613	0.655000	0.94253	CGA		0.507	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149	
CHRM2	1129	broad.mit.edu	37	7	136699767	136699767	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:136699767G>A	ENST00000445907.2	+	3	683	c.155G>A	c.(154-156)cGc>cAc	p.R52H	CHRM2_ENST00000402486.3_Missense_Mutation_p.R52H|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.R52H|CHRM2_ENST00000453373.1_Missense_Mutation_p.R52H|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.R52H|CHRM2_ENST00000320658.5_Missense_Mutation_p.R52H|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	52					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.R52H(3)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AAAGTCAACCGCCACCTCCAG	0.448																																					p.R52H												.	.	3	Substitution - Missense(3)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	c.G155A	7						.						203.0	171.0	181.0					7																	136699767		2203	4300	6503	136350307	SO:0001583	missense	1129	exon4				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.155G>A	7.37:g.136699767G>A	ENSP00000399745:p.Arg52His		136350307	NM_000739	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349237	0.82132	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77544	-0.2548	10	0.72032	D	0.01	-14.4422	19.0529	0.93053	0.0:0.0:1.0:0.0	.	52	P08172	ACM2_HUMAN	H	52	ENSP00000399745:R52H;ENSP00000415386:R52H;ENSP00000319984:R52H;ENSP00000380733:R52H;ENSP00000384937:R52H;ENSP00000384401:R52H	ENSP00000319984:R52H	R	+	2	0	CHRM2	136350307	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.766000	0.98957	2.502000	0.84385	0.585000	0.79938	CGC		0.448	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
TRIM24	8805	broad.mit.edu	37	7	138189046	138189046	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:138189046C>T	ENST00000343526.4	+	2	591	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.R126C			O15164	TIF1A_HUMAN	tripartite motif containing 24	126					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R126C(2)|p.R84C(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGAGTCATTCGTTGCCCAGT	0.358																																					p.R126C	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)											.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C376T	7						.						101.0	99.0	100.0					7																	138189046		2203	4300	6503	137839586	SO:0001583	missense	8805	exon2			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.376C>T	7.37:g.138189046C>T	ENSP00000340507:p.Arg126Cys		137839586	NM_003852	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603801	0.87157	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.79141	-1.24;-1.19	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	L	0.54863	1.705	0.80722	D	1	P;D	0.89917	0.85;1.0	P;D	0.97110	0.608;1.0	D	0.85406	0.1134	10	0.48119	T	0.1	-11.7677	18.4584	0.90729	0.0:1.0:0.0:0.0	.	126;126	O15164;O15164-2	TIF1A_HUMAN;.	C	126;126;37;126;84	ENSP00000340507:R126C;ENSP00000390829:R126C	ENSP00000340507:R126C	R	+	1	0	TRIM24	137839586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.176000	0.58269	2.684000	0.91462	0.650000	0.86243	CGT		0.358	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	
ATP6V0A4	50617	broad.mit.edu	37	7	138444564	138444564	+	Missense_Mutation	SNP	C	C	T	rs374791119		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:138444564C>T	ENST00000310018.2	-	8	854	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R191Q|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R191Q|ATP6V0A4_ENST00000483139.1_5'Flank	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	191					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.R191Q(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCGGCAGATTCGCCACAGTAA	0.532																																					p.R191Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G572A	7						.						113.0	90.0	98.0					7																	138444564		2203	4300	6503	138095104	SO:0001583	missense	50617	exon7			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.572G>A	7.37:g.138444564C>T	ENSP00000308122:p.Arg191Gln		138095104	NM_130840	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	35	5.501778	0.96371	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.88124	-2.34;-2.34;-2.34	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000004	D	0.95297	0.8474	M	0.92077	3.27	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.95852	0.8875	10	0.87932	D	0	-15.1109	18.893	0.92412	0.0:1.0:0.0:0.0	.	191	Q9HBG4	VPP4_HUMAN	Q	191	ENSP00000308122:R191Q;ENSP00000376774:R191Q;ENSP00000253856:R191Q	ENSP00000308122:R191Q	R	-	2	0	ATP6V0A4	138095104	1.000000	0.71417	0.888000	0.34837	0.594000	0.36715	7.654000	0.83653	2.776000	0.95493	0.655000	0.94253	CGA		0.532	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
ETV1	2115	broad.mit.edu	37	7	13949260	13949260	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:13949260C>T	ENST00000430479.1	-	11	1604	c.937G>A	c.(937-939)Gat>Aat	p.D313N	ETV1_ENST00000403685.1_Missense_Mutation_p.D295N|ETV1_ENST00000405192.2_Missense_Mutation_p.D290N|ETV1_ENST00000399357.3_Missense_Mutation_p.D210N|ETV1_ENST00000476720.2_5'Flank|ETV1_ENST00000405358.4_Missense_Mutation_p.D327N|ETV1_ENST00000242066.5_Missense_Mutation_p.D295N|ETV1_ENST00000343495.5_Missense_Mutation_p.D295N|ETV1_ENST00000405218.2_Missense_Mutation_p.D313N|ETV1_ENST00000403527.1_Missense_Mutation_p.D273N|ETV1_ENST00000420159.2_Missense_Mutation_p.D255N	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	313					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D313N(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AACCTACCATCGAATTTTTCT	0.378			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.D290N			Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G868A	7						.						106.0	104.0	105.0					7																	13949260		1827	4076	5903	13915785	SO:0001583	missense	2115	exon9				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.937G>A	7.37:g.13949260C>T	ENSP00000405327:p.Asp313Asn		13915785	NM_001163147	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	35	5.576138	0.96553	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.98	5.98	0.97165	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.048825	0.85682	D	0.000000	T	0.43787	0.1263	L	0.34521	1.04	0.58432	D	0.999996	P;B;P;D;P;D;P	0.89917	0.753;0.441;0.924;1.0;0.926;0.963;0.497	B;B;B;D;P;P;B	0.79108	0.183;0.066;0.36;0.992;0.574;0.594;0.156	T	0.11767	-1.0574	10	0.49607	T	0.09	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	301;295;327;255;210;273;313	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	N	313;295;295;255;210;290;327;273;313;295;255	ENSP00000405327:D313N;ENSP00000242066:D295N;ENSP00000340853:D295N;ENSP00000411626:D255N;ENSP00000382293:D210N;ENSP00000385381:D290N;ENSP00000384085:D327N;ENSP00000384138:D273N;ENSP00000385551:D313N;ENSP00000385686:D295N;ENSP00000393078:D255N	ENSP00000242066:D295N	D	-	1	0	ETV1	13915785	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.788000	0.85771	2.838000	0.97847	0.591000	0.81541	GAT		0.378	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
ETV1	2115	broad.mit.edu	37	7	13978866	13978866	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:13978866A>C	ENST00000430479.1	-	7	908	c.241T>G	c.(241-243)Ttt>Gtt	p.F81V	ETV1_ENST00000403685.1_Missense_Mutation_p.F63V|ETV1_ENST00000405192.2_Missense_Mutation_p.F81V|ETV1_ENST00000399357.3_Missense_Mutation_p.F41V|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Missense_Mutation_p.F95V|ETV1_ENST00000242066.5_Missense_Mutation_p.F63V|ETV1_ENST00000343495.5_Missense_Mutation_p.F63V|ETV1_ENST00000405218.2_Missense_Mutation_p.F81V|ETV1_ENST00000403527.1_Missense_Mutation_p.F41V|ETV1_ENST00000420159.2_Missense_Mutation_p.F23V	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	81					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F81V(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGCCATGAAAAGCCACTAGA	0.378			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.F81V			Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T241G	7						.						72.0	64.0	67.0					7																	13978866		1824	4076	5900	13945391	SO:0001583	missense	2115	exon6				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.241T>G	7.37:g.13978866A>C	ENSP00000405327:p.Phe81Val		13945391	NM_001163147	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006411	0.74932	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608;ENST00000421381;ENST00000431887	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.45	5.45	0.79879	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	M	0.74467	2.265	0.52501	D	0.999954	P;P;D;D;P;D;D	0.69078	0.811;0.84;0.997;0.992;0.566;0.994;0.971	B;P;D;D;B;D;P	0.79108	0.334;0.702;0.992;0.974;0.438;0.985;0.902	T	0.60777	-0.7196	10	0.66056	D	0.02	.	15.5292	0.75942	1.0:0.0:0.0:0.0	.	92;63;95;23;41;41;81	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;P50549	.;.;.;.;.;.;ETV1_HUMAN	V	81;63;63;23;41;81;95;41;81;63;23;41;81;81	ENSP00000405327:F81V;ENSP00000242066:F63V;ENSP00000340853:F63V;ENSP00000411626:F23V;ENSP00000382293:F41V;ENSP00000385381:F81V;ENSP00000384085:F95V;ENSP00000384138:F41V;ENSP00000385551:F81V;ENSP00000385686:F63V;ENSP00000393078:F23V;ENSP00000394710:F41V;ENSP00000391043:F81V;ENSP00000410819:F81V	ENSP00000242066:F63V	F	-	1	0	ETV1	13945391	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.970000	0.76099	2.071000	0.62044	0.533000	0.62120	TTT		0.378	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
TTC26	79989	broad.mit.edu	37	7	138845748	138845748	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:138845748G>T	ENST00000464848.1	+	8	852	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	TTC26_ENST00000343187.4_Nonsense_Mutation_p.E227*|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000474035.2_Nonsense_Mutation_p.E258*|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000478836.2_Nonsense_Mutation_p.E152*|TTC26_ENST00000430935.1_Nonsense_Mutation_p.E258*			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	258					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.E258*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATTTGCTAAAGAACTCATCAG	0.363																																					p.E258X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G772T	7						.						98.0	88.0	91.0					7																	138845748		2203	4300	6503	138496288	SO:0001587	stop_gained	79989	exon8			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.772G>T	7.37:g.138845748G>T	ENSP00000419279:p.Glu258*		138496288	NM_001144920	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Nonsense_Mutation	SNP	ENST00000464848.1	37	CCDS5852.1	.	.	.	.	.	.	.	.	.	.	G	37	6.041409	0.97226	.	.	ENSG00000105948	ENST00000430935;ENST00000474035;ENST00000478836;ENST00000464848;ENST00000343187	.	.	.	4.92	4.92	0.64577	.	0.111999	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.0566	0.89365	0.0:0.0:1.0:0.0	.	.	.	.	X	258;258;152;258;227	.	ENSP00000339135:E227X	E	+	1	0	TTC26	138496288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.127000	0.89593	2.436000	0.82500	0.561000	0.74099	GAA		0.363	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2	NM_024926	
ADCK2	90956	broad.mit.edu	37	7	140386832	140386832	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:140386832A>C	ENST00000072869.4	+	5	1526	c.1348A>C	c.(1348-1350)Aac>Cac	p.N450H	ADCK2_ENST00000476491.1_Missense_Mutation_p.N450H	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	450	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.N450H(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TCACCCTGGAAACATCCTGGT	0.557																																					p.N450H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1348C	7						.						122.0	109.0	113.0					7																	140386832		2203	4300	6503	140033301	SO:0001583	missense	90956	exon5			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1348A>C	7.37:g.140386832A>C	ENSP00000072869:p.Asn450His		140033301	NM_052853	Q96CN6|Q9Y6T5	Missense_Mutation	SNP	ENST00000072869.4	37	CCDS5861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.48|16.48	3.134712|3.134712	0.56828|0.56828	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000483369|ENST00000072869;ENST00000476491;ENST00000473512	.|T;T;T	.|0.68331	.|-0.32;-0.32;-0.32	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86855|0.86855	0.6033|0.6033	H|H	0.95224|0.95224	3.64|3.64	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.99	D|D	0.90848|0.90848	0.4729|0.4729	5|10	.|0.87932	.|D	.|0	-37.0828|-37.0828	15.0717|15.0717	0.72042|0.72042	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|450;450	.|C9JE15;Q7Z695	.|.;ADCK2_HUMAN	T|H	287|450;450;90	.|ENSP00000072869:N450H;ENSP00000420512:N450H;ENSP00000420288:N90H	.|ENSP00000072869:N450H	K|N	+|+	2|1	0|0	ADCK2|ADCK2	140033301|140033301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.026000|0.026000	0.11368|0.11368	8.719000|8.719000	0.91436|0.91436	2.154000|2.154000	0.67381|0.67381	0.402000|0.402000	0.26972|0.26972	AAA|AAC		0.557	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853	
SSBP1	6742	broad.mit.edu	37	7	141445300	141445300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:141445300C>T	ENST00000481508.1	+	6	754	c.319C>T	c.(319-321)Cga>Tga	p.R107*	SSBP1_ENST00000465582.1_Nonsense_Mutation_p.R107*|SSBP1_ENST00000498107.1_Nonsense_Mutation_p.R107*|SSBP1_ENST00000265304.6_Nonsense_Mutation_p.R107*|SSBP1_ENST00000484178.1_Nonsense_Mutation_p.R107*|SSBP1_ENST00000469123.1_3'UTR	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	107	SSB.				DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)	p.R107*(1)		large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TATCAGGTCTCGAATTTATTT	0.338																																					p.R107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C319T	7						.						86.0	96.0	93.0					7																	141445300		2203	4300	6503	141091769	SO:0001587	stop_gained	6742	exon6			M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"""single-stranded DNA-binding protein"", ""single-stranded DNA binding protein 1"""			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.319C>T	7.37:g.141445300C>T	ENSP00000419665:p.Arg107*		141091769	NM_003143		Nonsense_Mutation	SNP	ENST00000481508.1	37	CCDS5866.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184817	0.78677	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000463093;ENST00000484178;ENST00000481508	.	.	.	5.47	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-11.5216	14.6303	0.68650	0.0:0.929:0.0:0.071	.	.	.	.	X	107	.	ENSP00000265304:R107X	R	+	1	2	SSBP1	141091769	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.078000	0.50096	2.571000	0.86741	0.655000	0.94253	CGA		0.338	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349187.1	NM_003143	
OR9A4	130075	broad.mit.edu	37	7	141619447	141619447	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:141619447C>A	ENST00000548136.1	+	1	831	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L258I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGCTTGTTTCTCTACGTGAA	0.488																																					p.L258I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C772A	7						.						66.0	71.0	69.0					7																	141619447		2203	4300	6503	141265916	SO:0001583	missense	130075	exon1				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.772C>A	7.37:g.141619447C>A	ENSP00000448789:p.Leu258Ile		141265916	NM_001001656	B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	C	8.329	0.826011	0.16749	.	.	ENSG00000258083	ENST00000548136	T	0.00115	8.71	3.8	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.16708	0.43	0.23809	N	0.996786	B	0.13594	0.008	B	0.23150	0.044	T	0.00942	-1.1506	9	0.16420	T	0.52	-26.0443	8.6492	0.34025	0.4153:0.5846:0.0:0.0	.	258	Q8NGU2	OR9A4_HUMAN	I	258	ENSP00000448789:L258I	ENSP00000386148:L258I	L	+	1	0	OR9A4	141265916	0.000000	0.05858	0.998000	0.56505	0.810000	0.45777	0.065000	0.14466	0.895000	0.36342	0.655000	0.94253	CTC		0.488	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
TAS2R38	5726	broad.mit.edu	37	7	141672928	141672928	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:141672928C>A	ENST00000547270.1	-	1	645	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	188					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.D188Y(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AAATTGAGATCTTTAATCTGC	0.423																																					p.D188Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G562T	7						.						97.0	103.0	101.0					7																	141672928		2203	4300	6503	141319397	SO:0001583	missense	5726	exon1			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.562G>T	7.37:g.141672928C>A	ENSP00000448219:p.Asp188Tyr		141319397	NM_176817	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	C	9.440	1.087732	0.20390	.	.	ENSG00000257138	ENST00000547270	T	0.00784	5.7	4.7	0.0219	0.14131	.	0.945734	0.08807	N	0.890826	T	0.00936	0.0031	L	0.29908	0.895	0.09310	N	1	B	0.22211	0.066	B	0.32393	0.145	T	0.47898	-0.9081	10	0.72032	D	0.01	.	6.9559	0.24570	0.0:0.4345:0.0:0.5655	.	188	P59533	T2R38_HUMAN	Y	188	ENSP00000448219:D188Y	ENSP00000331291:D188Y	D	-	1	0	TAS2R38	141319397	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.154000	0.16343	0.093000	0.17368	-0.302000	0.09304	GAT		0.423	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817	
PRSS1	5644	broad.mit.edu	37	7	142459771	142459771	+	Missense_Mutation	SNP	G	G	A	rs199769221	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:142459771G>A	ENST00000311737.7	+	3	353	c.347G>A	c.(346-348)cGt>cAt	p.R116H	PRSS1_ENST00000486171.1_Missense_Mutation_p.R130H	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	116	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> C (in PCTT). {ECO:0000269|PubMed:11866271}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R116H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CTCTCCTCACGTGCAGTAATC	0.562													g|||	2	0.000399361	0.0	0.0	5008	,	,		17756	0.002		0.0	False		,,,				2504	0.0				p.R116H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G347A	7						.						214.0	195.0	202.0					7																	142459771		2203	4300	6503	142139345	SO:0001583	missense	5644	exon3			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.347G>A	7.37:g.142459771G>A	ENSP00000308720:p.Arg116His		142139345	NM_002769	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	10.67	1.415749	0.25552	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.93019	-3.15;-3.15;-1.53	3.28	1.33	0.21861	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.314770	0.40064	N	0.001197	D	0.88919	0.6568	N	0.20574	0.59	0.23528	N	0.997489	B;B	0.31910	0.346;0.346	B;B	0.40982	0.345;0.345	T	0.82534	-0.0409	10	0.87932	D	0	.	12.0734	0.53630	0.0:0.6662:0.3338:0.0	.	130;116	E7EQ64;P07477	.;TRY1_HUMAN	H	130;116;106;66	ENSP00000417854:R130H;ENSP00000308720:R116H;ENSP00000419912:R66H	ENSP00000308720:R116H	R	+	2	0	PRSS1	142139345	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	1.054000	0.30455	0.179000	0.19938	-0.560000	0.04181	CGT		0.562	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
TRPV6	55503	broad.mit.edu	37	7	142572914	142572914	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:142572914C>T	ENST00000359396.3	-	9	1371	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	376					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.A376T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCATGTAGGCTTCCTAATGG	0.542																																					p.A376T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1126A	7						.						78.0	72.0	74.0					7																	142572914		2203	4300	6503	142283036	SO:0001583	missense	55503	exon9			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1126G>A	7.37:g.142572914C>T	ENSP00000352358:p.Ala376Thr		142283036	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.544809	0.45280	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.85088	-1.94	4.74	3.79	0.43588	.	0.284559	0.40144	N	0.001174	T	0.80449	0.4625	L	0.55743	1.74	0.32226	N	0.574562	P	0.34977	0.478	B	0.38327	0.271	T	0.78011	-0.2371	10	0.17832	T	0.49	-29.8097	10.3614	0.43996	0.3347:0.6653:0.0:0.0	.	376	Q9H1D0	TRPV6_HUMAN	T	376;208	ENSP00000352358:A376T	ENSP00000310825:A208T	A	-	1	0	TRPV6	142283036	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	4.322000	0.59215	2.634000	0.89283	0.561000	0.74099	GCC		0.542	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
TRPV6	55503	broad.mit.edu	37	7	142574180	142574180	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:142574180C>T	ENST00000359396.3	-	6	988	c.743G>A	c.(742-744)gGa>gAa	p.G248E	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	248					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.G248E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACCCTCCACTCCAGCCAGCTT	0.577																																					p.G248E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G743A	7						.						101.0	88.0	92.0					7																	142574180		2203	4300	6503	142284302	SO:0001583	missense	55503	exon6			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.743G>A	7.37:g.142574180C>T	ENSP00000352358:p.Gly248Glu		142284302	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647700	0.67358	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.81579	-1.51	4.87	4.87	0.63330	Ankyrin repeat-containing domain (3);	0.053408	0.64402	D	0.000001	T	0.68118	0.2966	N	0.04746	-0.17	0.43879	D	0.996497	P	0.51791	0.948	P	0.46758	0.526	T	0.75855	-0.3170	10	0.87932	D	0	-12.8565	12.8671	0.57946	0.0:0.8364:0.1636:0.0	.	248	Q9H1D0	TRPV6_HUMAN	E	248;80	ENSP00000352358:G248E	ENSP00000310825:G80E	G	-	2	0	TRPV6	142284302	1.000000	0.71417	0.985000	0.45067	0.968000	0.65278	6.489000	0.73641	2.275000	0.75901	0.655000	0.94253	GGA		0.577	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
TRPV6	55503	broad.mit.edu	37	7	142575524	142575524	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:142575524C>T	ENST00000359396.3	-	3	474	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	77					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.A77T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCCCCCATGGCTCCTGGCATT	0.577																																					p.A77T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G229A	7						.						106.0	100.0	102.0					7																	142575524		2203	4300	6503	142285646	SO:0001583	missense	55503	exon3			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.229G>A	7.37:g.142575524C>T	ENSP00000352358:p.Ala77Thr		142285646	NM_018646	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786462	0.90367	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	T	0.53423	0.62	4.86	4.86	0.63082	Ankyrin repeat-containing domain (4);	0.107755	0.64402	D	0.000006	T	0.52917	0.1764	L	0.33624	1.015	0.54753	D	0.999987	P	0.47409	0.895	P	0.56088	0.791	T	0.48990	-0.8985	10	0.33940	T	0.23	-15.142	16.9932	0.86359	0.0:1.0:0.0:0.0	.	77	Q9H1D0	TRPV6_HUMAN	T	77;4	ENSP00000352358:A77T	ENSP00000352358:A77T	A	-	1	0	TRPV6	142285646	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.510000	0.53393	2.240000	0.73641	0.655000	0.94253	GCC		0.577	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
TRPV5	56302	broad.mit.edu	37	7	142611854	142611854	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:142611854C>T	ENST00000265310.1	-	12	1823	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	492					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R492H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCAGCAGAAACGCATTAGGTC	0.468																																					p.R492H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1475A	7						.						81.0	69.0	73.0					7																	142611854		2203	4300	6503	142321976	SO:0001583	missense	56302	exon12			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1475G>A	7.37:g.142611854C>T	ENSP00000265310:p.Arg492His		142321976	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514611	0.85389	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.91740	-2.9;-2.9	5.24	5.24	0.73138	Ion transport (1);	0.061929	0.64402	D	0.000005	D	0.93331	0.7874	M	0.88704	2.975	0.80722	D	1	P	0.41345	0.746	B	0.38264	0.269	D	0.94522	0.7728	10	0.66056	D	0.02	-9.6578	18.173	0.89752	0.0:1.0:0.0:0.0	.	492	Q9NQA5	TRPV5_HUMAN	H	492;437	ENSP00000265310:R492H;ENSP00000406361:R437H	ENSP00000265310:R492H	R	-	2	0	TRPV5	142321976	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.500000	0.60387	2.595000	0.87683	0.655000	0.94253	CGT		0.468	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
TRPV5	56302	broad.mit.edu	37	7	142627489	142627489	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:142627489G>T	ENST00000265310.1	-	2	529	c.181C>A	c.(181-183)Ctt>Att	p.L61I	TRPV5_ENST00000442623.1_Missense_Mutation_p.L61I	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	61					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGTTGCCTAAGAACAGACAGG	0.502																																					p.L61I												.	.	0			c.C181A	7						.						194.0	157.0	170.0					7																	142627489		2203	4300	6503	142337611	SO:0001583	missense	56302	exon2			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.181C>A	7.37:g.142627489G>T	ENSP00000265310:p.Leu61Ile		142337611	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	4.334	0.061303	0.08339	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.65549	0.59;-0.16;-0.05	4.56	3.68	0.42216	Ankyrin repeat-containing domain (3);	0.247932	0.38217	N	0.001764	T	0.49966	0.1588	N	0.21373	0.66	0.09310	N	1	B;B	0.24483	0.104;0.04	B;B	0.38683	0.279;0.1	T	0.43163	-0.9408	10	0.23891	T	0.37	-13.1664	7.9002	0.29729	0.0875:0.0:0.7426:0.1698	.	61;61	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	I	61;55;61	ENSP00000265310:L61I;ENSP00000406361:L55I;ENSP00000406572:L61I	ENSP00000265310:L61I	L	-	1	0	TRPV5	142337611	0.972000	0.33761	0.026000	0.17262	0.171000	0.22731	2.216000	0.42871	1.276000	0.44395	0.563000	0.77884	CTT		0.502	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
KEL	3792	broad.mit.edu	37	7	142655011	142655011	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:142655011C>T	ENST00000355265.2	-	6	1049	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	192					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R192Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTCAGCGTTCGGTTAAAGTT	0.522																																					p.R192Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G575A	7						.						114.0	96.0	102.0					7																	142655011		2203	4300	6503	142365133	SO:0001583	missense	3792	exon6			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.575G>A	7.37:g.142655011C>T	ENSP00000347409:p.Arg192Gln		142365133	NM_000420	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	8.521	0.868869	0.17322	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.73469	-0.75;-0.75	5.8	-2.43	0.06522	Peptidase M13 (1);	1.151580	0.06546	N	0.744149	T	0.52451	0.1735	N	0.12182	0.205	0.09310	N	1	B	0.21309	0.054	B	0.13407	0.009	T	0.34104	-0.9842	10	0.11485	T	0.65	-9.7833	10.5741	0.45217	0.0:0.2753:0.0:0.7247	.	192	P23276	KELL_HUMAN	Q	192;173	ENSP00000347409:R192Q;ENSP00000420011:R173Q	ENSP00000347409:R192Q	R	-	2	0	KEL	142365133	0.012000	0.17670	0.277000	0.24703	0.616000	0.37450	-0.631000	0.05496	-0.318000	0.08665	-0.753000	0.03488	CGA		0.522	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
TAS2R39	259285	broad.mit.edu	37	7	142880834	142880834	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:142880834C>T	ENST00000446620.1	+	1	323	c.323C>T	c.(322-324)gCt>gTt	p.A108V		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	108					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.A108V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TCTGAAGACGCTGTATATTAT	0.368																																					p.A108V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C323T	7						.						93.0	87.0	89.0					7																	142880834		1806	4083	5889	142590956	SO:0001583	missense	259285	exon1			AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.323C>T	7.37:g.142880834C>T	ENSP00000405095:p.Ala108Val		142590956	NM_176881	A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	C	9.448	1.089749	0.20390	.	.	ENSG00000236398	ENST00000446620	T	0.00760	5.73	4.76	-6.95	0.01628	.	.	.	.	.	T	0.00328	0.0010	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45366	-0.9266	9	0.25106	T	0.35	.	1.1384	0.01760	0.3067:0.3574:0.0953:0.2406	.	108	P59534	T2R39_HUMAN	V	108	ENSP00000405095:A108V	ENSP00000405095:A108V	A	+	2	0	TAS2R39	142590956	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.174000	0.09839	-1.415000	0.02022	0.650000	0.86243	GCT		0.368	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881	
CLCN1	1180	broad.mit.edu	37	7	143029829	143029829	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:143029829G>A	ENST00000343257.2	+	12	1351	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	422					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E422K(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GATGCCCCGCGAAGCCATCAG	0.517																																					p.E422K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1264A	7						.						168.0	160.0	163.0					7																	143029829		2203	4300	6503	142739951	SO:0001583	missense	1180	exon12			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1264G>A	7.37:g.143029829G>A	ENSP00000339867:p.Glu422Lys		142739951	NM_000083	A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786463	0.90367	.	.	ENSG00000188037	ENST00000343257	D	0.93659	-3.26	5.36	5.36	0.76844	Chloride channel, core (2);	0.097447	0.64402	D	0.000001	D	0.96457	0.8844	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96407	0.9301	10	0.62326	D	0.03	.	19.4395	0.94813	0.0:0.0:1.0:0.0	.	422	P35523	CLCN1_HUMAN	K	422	ENSP00000339867:E422K	ENSP00000339867:E422K	E	+	1	0	CLCN1	142739951	1.000000	0.71417	0.961000	0.40146	0.497000	0.33675	9.804000	0.99143	2.683000	0.91414	0.643000	0.83706	GAA		0.517	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
TAS2R60	338398	broad.mit.edu	37	7	143141092	143141092	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:143141092G>A	ENST00000332690.1	+	1	547	c.547G>A	c.(547-549)Gat>Aat	p.D183N	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	183					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D183N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGTCACTGGCGATAGCATACG	0.408																																					p.D183N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G547A	7						.						166.0	162.0	163.0					7																	143141092		2203	4300	6503	142851214	SO:0001583	missense	338398	exon1			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.547G>A	7.37:g.143141092G>A	ENSP00000327724:p.Asp183Asn		142851214	NM_177437	A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	A	0.929	-0.713240	0.03206	.	.	ENSG00000185899	ENST00000332690	T	0.00745	5.75	5.52	-1.75	0.08031	.	1.412180	0.04552	N	0.389964	T	0.00328	0.0010	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44190	-0.9344	10	0.09843	T	0.71	.	6.4179	0.21728	0.4003:0.0:0.4638:0.1359	.	183	P59551	T2R60_HUMAN	N	183	ENSP00000327724:D183N	ENSP00000327724:D183N	D	+	1	0	TAS2R60	142851214	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.098000	0.11024	-0.580000	0.05944	-1.120000	0.02017	GAT		0.408	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1		
TAS2R41	259287	broad.mit.edu	37	7	143175617	143175617	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:143175617G>A	ENST00000408916.1	+	1	652	c.652G>A	c.(652-654)Ggg>Agg	p.G218R	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	218					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G218R(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCAGCACAACGGGCACAGCCT	0.478																																					p.G218R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G652A	7						.						70.0	77.0	75.0					7																	143175617		2047	4195	6242	142885739	SO:0001583	missense	259287	exon1			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.652G>A	7.37:g.143175617G>A	ENSP00000386201:p.Gly218Arg		142885739	NM_176883	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.396916	0.01175	.	.	ENSG00000221855	ENST00000408916	T	0.00717	5.79	6.0	-2.08	0.07254	.	1.076560	0.07393	U	0.889477	T	0.00875	0.0029	L	0.45744	1.44	0.09310	N	1	B	0.22909	0.077	B	0.20184	0.028	T	0.47686	-0.9098	10	0.13108	T	0.6	.	8.3065	0.32045	0.3903:0.0:0.5148:0.0949	.	218	P59536	T2R41_HUMAN	R	218	ENSP00000386201:G218R	ENSP00000386201:G218R	G	+	1	0	TAS2R41	142885739	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.176000	0.09811	-1.107000	0.03004	-1.814000	0.00607	GGG		0.478	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1		
TAS2R41	259287	broad.mit.edu	37	7	143175837	143175837	+	Missense_Mutation	SNP	G	G	A	rs546304222		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:143175837G>A	ENST00000408916.1	+	1	872	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	291					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTCAAGCTTCGAAGCGTGTTC	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21181	0.001		0.0	False		,,,				2504	0.0				p.R291Q												.	.	0			c.G872A	7						.						109.0	102.0	104.0					7																	143175837		2062	4197	6259	142885959	SO:0001583	missense	259287	exon1			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.872G>A	7.37:g.143175837G>A	ENSP00000386201:p.Arg291Gln		142885959	NM_176883	P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	7.603	0.673163	0.14776	.	.	ENSG00000221855	ENST00000408916	T	0.01025	5.43	6.0	4.19	0.49359	.	0.331818	0.24945	N	0.034348	T	0.02230	0.0069	M	0.71036	2.16	0.09310	N	1	P	0.46064	0.872	P	0.45558	0.485	T	0.31586	-0.9938	10	0.54805	T	0.06	.	11.9089	0.52727	0.1534:0.0:0.8466:0.0	.	291	P59536	T2R41_HUMAN	Q	291	ENSP00000386201:R291Q	ENSP00000386201:R291Q	R	+	2	0	TAS2R41	142885959	0.000000	0.05858	0.054000	0.19295	0.029000	0.11900	0.590000	0.23954	0.442000	0.26555	-0.797000	0.03246	CGA		0.507	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1		
OR2A25	392138	broad.mit.edu	37	7	143771878	143771878	+	Missense_Mutation	SNP	C	C	T	rs374373324		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:143771878C>T	ENST00000408898.2	+	1	604	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A189E(1)|p.A189V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTGCCTGTGCGGATACCCAC	0.433																																					p.A189V												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.C566T	7						.	C	VAL/ALA	2,4116		0,2,2057	147.0	150.0	149.0		566	3.0	0.8	7		149	0,8490		0,0,4245	no	missense	OR2A25	NM_001004488.1	64	0,2,6302	TT,TC,CC		0.0,0.0486,0.0159	benign	189/311	143771878	2,12606	2059	4245	6304	143402811	SO:0001583	missense	392138	exon1				CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.566C>T	7.37:g.143771878C>T	ENSP00000386167:p.Ala189Val		143402811	NM_001004488	B2RNC9	Missense_Mutation	SNP	ENST00000408898.2	37	CCDS43669.1	.	.	.	.	.	.	.	.	.	.	C	2.232	-0.375797	0.05034	4.86E-4	0.0	ENSG00000221933	ENST00000408898	T	0.00137	8.68	4.84	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.36672	1.1	0.09310	N	1	B	0.15719	0.014	B	0.17098	0.017	T	0.06427	-1.0827	9	0.12766	T	0.61	-0.7916	5.8907	0.18911	0.1375:0.6467:0.1341:0.0817	.	189	A4D2G3	O2A25_HUMAN	V	189	ENSP00000386167:A189V	ENSP00000386167:A189V	A	+	2	0	OR2A25	143402811	0.000000	0.05858	0.849000	0.33467	0.223000	0.24884	0.041000	0.13927	0.241000	0.21283	-1.119000	0.02030	GCG		0.433	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1		
OR2A42	402317	broad.mit.edu	37	7	143929609	143929609	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:143929609C>T	ENST00000391496.1	-	1	327	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	RP4-545C24.1_ENST00000493248.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000477797.1_RNA|RP4-545C24.1_ENST00000498693.1_RNA|RP4-545C24.1_ENST00000489077.1_RNA|RP4-545C24.1_ENST00000464929.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-545C24.1_ENST00000480074.1_RNA	NM_001001802.2	NP_001001802.2	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 42	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E110K(1)		breast(1)|kidney(1)|large_intestine(1)|skin(1)	4	Melanoma(164;0.14)					AGGAGACATTCGCTGTGTCCA	0.557																																					p.E104K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G310A	7						.						35.0	42.0	40.0					7																	143929609		1464	3629	5093	143560542	SO:0001583	missense	346528	exon1				CCDS56515.1	7q35	2013-09-20			ENSG00000212807	ENSG00000212807		"""GPCR / Class A : Olfactory receptors"""	31230	protein-coding gene	gene with protein product							Standard	NM_001001802		Approved			Q8NGT9	OTTHUMG00000157995	ENST00000391496.1:c.328G>A	7.37:g.143929609C>T	ENSP00000375334:p.Glu110Lys		143560542	NM_001001802	Q6IF44|Q96R46	Missense_Mutation	SNP	ENST00000391496.1	37	CCDS56515.1	.	.	.	.	.	.	.	.	.	.	C	9.741	1.164826	0.21538	.	.	ENSG00000212807	ENST00000391496	T	0.00414	7.52	2.77	0.82	0.18793	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00356	0.0011	.	.	.	0.09310	N	1	P	0.50369	0.934	P	0.44946	0.465	T	0.53634	-0.8411	8	0.87932	D	0	.	5.6978	0.17865	0.0:0.6729:0.2016:0.1255	.	110	Q8NGT9	OR2A1_HUMAN	K	110	ENSP00000375334:E110K	ENSP00000375334:E110K	E	-	1	0	OR2A42	143560542	0.000000	0.05858	0.262000	0.24481	0.021000	0.10359	0.469000	0.22067	0.204000	0.20548	0.398000	0.26397	GAA		0.557	OR2A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349968.1		
EZH2	2146	broad.mit.edu	37	7	148506185	148506185	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:148506185C>T	ENST00000460911.1	-	19	2246	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	EZH2_ENST00000476773.1_Missense_Mutation_p.E669K|EZH2_ENST00000350995.2_Missense_Mutation_p.E681K|EZH2_ENST00000320356.2_Missense_Mutation_p.E725K|EZH2_ENST00000541220.1_Missense_Mutation_p.E669K|EZH2_ENST00000483967.1_Missense_Mutation_p.E711K|EZH2_ENST00000478654.1_Missense_Mutation_p.E669K			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	720	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.E681K(1)|p.E725K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AACAGCTCTTCGCCAGTCTGG	0.428			Mis		DLBCL																																p.E681K			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2041A	7						.						124.0	113.0	116.0					7																	148506185		2203	4300	6503	148137118	SO:0001583	missense	2146	exon18				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2158G>A	7.37:g.148506185C>T	ENSP00000419711:p.Glu720Lys		148137118	NM_152998	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	36	5.601824	0.96614	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;D;D;D;D;D;D	0.94280	-3.39;-2.3;-2.3;-2.3;-3.39;-3.39;-2.3	5.23	5.23	0.72850	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.997;1.0;0.997;1.0	D;D;D;D;D	0.91635	0.946;0.928;0.999;0.946;0.995	D	0.97591	1.0117	10	0.56958	D	0.05	.	18.8215	0.92099	0.0:1.0:0.0:0.0	.	711;669;720;681;725	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	K	669;725;720;681;669;669;711	ENSP00000417062:E669K;ENSP00000320147:E725K;ENSP00000419711:E720K;ENSP00000223193:E681K;ENSP00000443219:E669K;ENSP00000419050:E669K;ENSP00000419856:E711K	ENSP00000320147:E725K	E	-	1	0	EZH2	148137118	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.532000	0.81985	2.439000	0.82584	0.579000	0.79373	GAA		0.428	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456	
ZNF425	155054	broad.mit.edu	37	7	148801955	148801955	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:148801955G>A	ENST00000378061.2	-	4	1140	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	336					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D336D(1)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGAAGCACCGGTCACACTGCG	0.667																																					p.D336D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1008T	7						.						43.0	41.0	42.0					7																	148801955		2203	4300	6503	148432888	SO:0001819	synonymous_variant	155054	exon4			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1008C>T	7.37:g.148801955G>A			148432888	NM_001001661	B3KPM1|Q08AG3	Silent	SNP	ENST00000378061.2	37	CCDS34773.1																																																																																				0.667	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
ZNF783	100289678	broad.mit.edu	37	7	148964011	148964011	+	Silent	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:148964011C>G	ENST00000434415.1	+	3	685	c.522C>G	c.(520-522)ggC>ggG	p.G174G		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	174	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G174G(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TGATGAGGGGCAACTACGAGA	0.577																																					p.G174G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C522G	7						.						246.0	199.0	215.0					7																	148964011		2203	4300	6503	148594944	SO:0001819	synonymous_variant	155060	exon3			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.522C>G	7.37:g.148964011C>G			148594944	NM_001195220	C9J9J2	Silent	SNP	ENST00000434415.1	37	CCDS56519.1																																																																																				0.577	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220	
GIMAP8	155038	broad.mit.edu	37	7	150171156	150171156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:150171156G>T	ENST00000307271.3	+	4	1313	c.739G>T	c.(739-741)Gaa>Taa	p.E247*		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	247	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.E247*(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGGGACATCAGAACTGACAGT	0.557																																					p.E247X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G739T	7						.						84.0	86.0	85.0					7																	150171156		2203	4300	6503	149802089	SO:0001587	stop_gained	155038	exon4			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.739G>T	7.37:g.150171156G>T	ENSP00000305107:p.Glu247*		149802089	NM_175571		Nonsense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	40	8.428280	0.98808	.	.	ENSG00000171115	ENST00000307271	.	.	.	4.24	4.24	0.50183	.	0.170798	0.28436	N	0.015348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	12.0109	0.53286	0.0:0.0:1.0:0.0	.	.	.	.	X	247	.	ENSP00000305107:E247X	E	+	1	0	GIMAP8	149802089	0.703000	0.27826	0.014000	0.15608	0.041000	0.13682	4.543000	0.60684	2.223000	0.72356	0.650000	0.86243	GAA		0.557	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
GIMAP8	155038	broad.mit.edu	37	7	150174599	150174599	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:150174599G>T	ENST00000307271.3	+	5	2303	c.1729G>T	c.(1729-1731)Gac>Tac	p.D577Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	577	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.D577Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GAATTTGGAAGACTTCATGAA	0.488																																					p.D577Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1729T	7						.						83.0	92.0	89.0					7																	150174599		2203	4300	6503	149805532	SO:0001583	missense	155038	exon5			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1729G>T	7.37:g.150174599G>T	ENSP00000305107:p.Asp577Tyr		149805532	NM_175571		Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093387	0.56075	.	.	ENSG00000171115	ENST00000307271	T	0.09445	2.98	4.44	3.55	0.40652	AIG1 (1);	0.489617	0.17145	N	0.185305	T	0.35508	0.0934	M	0.89095	3.005	0.22081	N	0.999379	D	0.64830	0.994	D	0.68483	0.958	T	0.14811	-1.0459	10	0.87932	D	0	.	10.2729	0.43493	0.0:0.2005:0.7995:0.0	.	577	Q8ND71	GIMA8_HUMAN	Y	577	ENSP00000305107:D577Y	ENSP00000305107:D577Y	D	+	1	0	GIMAP8	149805532	0.018000	0.18449	0.004000	0.12327	0.003000	0.03518	0.310000	0.19356	1.079000	0.41038	0.655000	0.94253	GAC		0.488	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
GIMAP5	55340	broad.mit.edu	37	7	150439591	150439591	+	Missense_Mutation	SNP	C	C	T	rs202237347		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:150439591C>T	ENST00000358647.3	+	3	731	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	122	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.R122C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGGGGCGTTTCACTGC	0.582																																					p.R326C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C976T	7						.	C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	75.0	75.0	75.0		976,364	4.2	0.9	7		75	2,8598	3.0+/-9.4	0,2,4298	no	missense,missense	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	326/512,122/308	150439591	2,13004	2203	4300	6503	150070524	SO:0001583	missense	55340	exon6			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.364C>T	7.37:g.150439591C>T	ENSP00000351473:p.Arg122Cys		150070524	NM_001199577	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223673	0.79576	0.0	2.33E-4	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.08458	3.09	4.15	4.15	0.48705	AIG1 (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.90977	3.165	0.53005	D	0.999966	D	0.89917	1.0	D	0.79108	0.992	T	0.35895	-0.9770	10	0.87932	D	0	.	11.7844	0.52034	0.0:1.0:0.0:0.0	.	122	Q96F15	GIMA5_HUMAN	C	122;158	ENSP00000351473:R122C	ENSP00000351473:R122C	R	+	1	0	GIMAP5	150070524	0.000000	0.05858	0.945000	0.38365	0.813000	0.45954	0.074000	0.14662	2.143000	0.66587	0.655000	0.94253	CGT		0.582	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384	
KCNH2	3757	broad.mit.edu	37	7	150649786	150649786	+	Silent	SNP	C	C	T	rs371864051		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:150649786C>T	ENST00000262186.5	-	6	1685	c.1284G>A	c.(1282-1284)tcG>tcA	p.S428S	KCNH2_ENST00000330883.4_Silent_p.S88S|KCNH2_ENST00000430723.3_Silent_p.S428S|KCNH2_ENST00000392968.2_Silent_p.S332S	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	428					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.S428S(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GGAAGGCAGCCGAGTAGGGTG	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17417	0.0		0.0	False		,,,				2504	0.0				p.S88S	GBM(137;110 1844 13671 20123 45161)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G264A	7						.	C	,,,	1,4405	2.1+/-5.4	0,1,2202	147.0	127.0	134.0		1284,264,1284,264	-1.3	1.0	7		134	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNH2	NM_000238.3,NM_001204798.1,NM_172056.2,NM_172057.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	428/1160,88/549,428/889,88/820	150649786	1,13005	2203	4300	6503	150280719	SO:0001819	synonymous_variant	3757	exon2			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1284G>A	7.37:g.150649786C>T			150280719	NM_172057	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000262186.5	37	CCDS5910.1																																																																																				0.617	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	
GBX1	2636	broad.mit.edu	37	7	150845834	150845834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:150845834G>A	ENST00000297537.4	-	2	933	c.934C>T	c.(934-936)Cga>Tga	p.R312*	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	312					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R312*(1)		large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGGCCCGTCGATTCTGAAAC	0.532																																					p.R312X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C934T	7						.						81.0	85.0	83.0					7																	150845834		2177	4285	6462	150476767	SO:0001587	stop_gained	2636	exon2			L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.934C>T	7.37:g.150845834G>A	ENSP00000297537:p.Arg312*		150476767	NM_001098834		Nonsense_Mutation	SNP	ENST00000297537.4	37	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818136	0.90790	.	.	ENSG00000164900	ENST00000297537	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.3754	16.8607	0.86017	0.0:0.0:1.0:0.0	.	.	.	.	X	312	.	ENSP00000297537:R312X	R	-	1	2	GBX1	150476767	1.000000	0.71417	0.759000	0.31340	0.982000	0.71751	4.596000	0.61055	2.580000	0.87095	0.655000	0.94253	CGA		0.532	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1		
GALNTL5	168391	broad.mit.edu	37	7	151700048	151700048	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:151700048G>A	ENST00000392800.2	+	6	1162	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	GALNTL5_ENST00000431418.2_Splice_Site_p.R303Q|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	303	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R303Q(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AAACCAATCCGGTGAGATTTC	0.388																																					p.R303Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G908A	7						.						59.0	65.0	63.0					7																	151700048		2203	4300	6503	151330981	SO:0001630	splice_region_variant	168391	exon6			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.908+1G>A	7.37:g.151700048G>A			151330981	NM_145292	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	g	19.33	3.807301	0.70797	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.60171	0.21;0.21	4.65	1.89	0.25635	Glycosyl transferase, family 2 (1);	0.203875	0.24557	N	0.037514	T	0.66287	0.2774	M	0.64567	1.98	0.35639	D	0.810827	P;D	0.89917	0.905;1.0	B;D	0.71414	0.427;0.973	T	0.70579	-0.4833	10	0.66056	D	0.02	.	5.6075	0.17387	0.3878:0.0:0.6122:0.0	.	54;303	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	Q	303	ENSP00000392582:R303Q;ENSP00000376548:R303Q	ENSP00000376548:R303Q	R	+	2	0	GALNTL5	151330981	1.000000	0.71417	0.996000	0.52242	0.824000	0.46624	2.517000	0.45529	0.705000	0.31890	-0.127000	0.14921	CGG		0.388	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292	Missense_Mutation
KMT2C	58508	broad.mit.edu	37	7	151846091	151846091	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:151846091G>A	ENST00000262189.6	-	52	13139	c.12921C>T	c.(12919-12921)atC>atT	p.I4307I	KMT2C_ENST00000355193.2_Silent_p.I4364I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4307					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I4307I(2)|p.I4364I(2)									GAGGGAAGGCGATGGGTGGTG	0.552																																					p.I4307I												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.C12921T	7						.						53.0	48.0	50.0					7																	151846091		2203	4300	6503	151477024	SO:0001819	synonymous_variant	58508	exon52			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12921C>T	7.37:g.151846091G>A			151477024	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.745259	0.00675	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.52	-0.973	0.10297	.	.	.	.	.	T	0.29914	0.0748	.	.	.	0.28927	N	0.891787	.	.	.	.	.	.	T	0.33701	-0.9858	4	.	.	.	.	5.7771	0.18285	0.3744:0.0:0.4192:0.2064	.	.	.	.	C	1868	.	.	R	-	1	0	MLL3	151477024	0.919000	0.31177	0.000000	0.03702	0.029000	0.11900	0.896000	0.28377	-0.098000	0.12285	-0.143000	0.13931	CGC		0.552	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
KMT2C	58508	broad.mit.edu	37	7	151860293	151860293	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:151860293C>T	ENST00000262189.6	-	43	10587	c.10369G>A	c.(10369-10371)Gac>Aac	p.D3457N	KMT2C_ENST00000355193.2_Missense_Mutation_p.D3457N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3457	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D3457N(2)									CAAGGTAAGTCGGAACTGTAG	0.473																																					p.D3457N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G10369A	7						.						186.0	170.0	175.0					7																	151860293		2203	4300	6503	151491226	SO:0001583	missense	58508	exon43			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10369G>A	7.37:g.151860293C>T	ENSP00000262189:p.Asp3457Asn		151491226	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.786714|2.786714	0.49997|0.49997	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.89415|.	-1.72;-1.7;-2.51|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.132371|.	0.32901|.	N|.	0.005508|.	T|T	0.70605|0.70605	0.3243|0.3243	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.981;1.0;0.986|.	P;D;P|.	0.66716|.	0.613;0.946;0.661|.	T|T	0.66960|0.66960	-0.5791|-0.5791	10|5	0.54805|.	T|.	0.06|.	.|.	19.1841|19.1841	0.93635|0.93635	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3457;2518;3457|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	N|Q	3457;3457;43|962	ENSP00000262189:D3457N;ENSP00000347325:D3457N;ENSP00000410411:D43N|.	ENSP00000262189:D3457N|.	D|R	-|-	1|2	0|0	MLL3|MLL3	151491226|151491226	1.000000|1.000000	0.71417|0.71417	0.361000|0.361000	0.25849|0.25849	0.191000|0.191000	0.23601|0.23601	7.380000|7.380000	0.79704|0.79704	2.537000|2.537000	0.85549|0.85549	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
PAXIP1	22976	broad.mit.edu	37	7	154767948	154767948	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:154767948C>T	ENST00000404141.1	-	6	686	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	PAXIP1_ENST00000397192.1_Missense_Mutation_p.E178K|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	178	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.E144K(1)|p.E178K(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TAAAATGCTTCGTCCTTTTTG	0.398																																					p.E178K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G532A	7						.						82.0	75.0	77.0					7																	154767948		1907	4147	6054	154398881	SO:0001583	missense	22976	exon6			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.532G>A	7.37:g.154767948C>T	ENSP00000384048:p.Glu178Lys		154398881	NM_007349	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112548	0.94339	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199;ENST00000419436	T;T;T	0.16073	2.37;2.37;2.37	4.98	4.98	0.66077	BRCT (2);	0.000000	0.56097	U	0.000029	T	0.52468	0.1736	M	0.90977	3.165	0.54753	D	0.999984	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.986;0.997;0.994;0.986	T	0.64892	-0.6300	10	0.66056	D	0.02	-26.3504	18.2489	0.89996	0.0:1.0:0.0:0.0	.	131;87;144;178	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	K	178;178;126;131;136	ENSP00000384048:E178K;ENSP00000380376:E178K;ENSP00000389849:E136K	ENSP00000319149:E131K	E	-	1	0	PAXIP1	154398881	1.000000	0.71417	0.934000	0.37439	0.880000	0.50808	7.193000	0.77780	2.301000	0.77427	0.305000	0.20034	GAA		0.398	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
CNPY1	285888	broad.mit.edu	37	7	155301672	155301672	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:155301672C>T	ENST00000321736.5	-	2	223	c.61G>A	c.(61-63)Gct>Act	p.A21T	CNPY1_ENST00000406197.1_Missense_Mutation_p.A21T|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	21								p.A21T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCCTAGGAGCGAATCTCTTG	0.403																																					p.A21T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G61A	7						.						79.0	77.0	78.0					7																	155301672		1807	4076	5883	154994433	SO:0001583	missense	285888	exon2				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.61G>A	7.37:g.155301672C>T	ENSP00000317439:p.Ala21Thr		154994433	NM_001103176	A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	37	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.339662	0.60963	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.36157	1.27;1.27	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	.	.	.	0.42644	D	0.993425	D	0.62365	0.991	P	0.54100	0.742	T	0.29088	-1.0023	9	0.33141	T	0.24	-18.8207	11.9379	0.52884	0.0:0.9084:0.0:0.0916	.	21	Q3B7I2	CNPY1_HUMAN	T	21	ENSP00000384514:A21T;ENSP00000317439:A21T	ENSP00000317439:A21T	A	-	1	0	CNPY1	154994433	1.000000	0.71417	0.641000	0.29422	0.676000	0.39594	3.272000	0.51616	2.240000	0.73641	0.557000	0.71058	GCT		0.403	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537	
UBE3C	9690	broad.mit.edu	37	7	157000225	157000225	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:157000225G>A	ENST00000348165.5	+	12	1912	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	518					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E518K(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACATGATAACGAATTCTTCGG	0.383																																					p.E518K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1552A	7						.						109.0	105.0	106.0					7																	157000225		2203	4300	6503	156692986	SO:0001583	missense	9690	exon12			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1552G>A	7.37:g.157000225G>A	ENSP00000309198:p.Glu518Lys		156692986	NM_014671	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371205	0.95923	.	.	ENSG00000009335	ENST00000348165	T	0.57436	0.4	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.974;0.982	T	0.76008	-0.3116	10	0.87932	D	0	.	18.8496	0.92222	0.0:0.0:1.0:0.0	.	518;518	Q15386;Q15386-2	UBE3C_HUMAN;.	K	518	ENSP00000309198:E518K	ENSP00000309198:E518K	E	+	1	0	UBE3C	156692986	1.000000	0.71417	0.705000	0.30386	0.965000	0.64279	9.113000	0.94321	2.450000	0.82876	0.655000	0.94253	GAA		0.383	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
SUN1	23353	broad.mit.edu	37	7	892253	892253	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:892253C>T	ENST00000405266.1	+	9	994	c.970C>T	c.(970-972)Cga>Tga	p.R324*	SUN1_ENST00000389574.3_Nonsense_Mutation_p.R204*|SUN1_ENST00000401592.1_Nonsense_Mutation_p.R287*|SUN1_ENST00000413514.2_Nonsense_Mutation_p.R96*|SUN1_ENST00000452783.2_Nonsense_Mutation_p.R185*|SUN1_ENST00000456758.2_Nonsense_Mutation_p.R476*|SUN1_ENST00000425407.2_Nonsense_Mutation_p.R204*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	314					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.R204*(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGTGCCTTCGAAACATCTG	0.418																																					p.R287X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C859T	7						.						145.0	137.0	140.0					7																	892253		1855	4105	5960	858779	SO:0001587	stop_gained	23353	exon8			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.970C>T	7.37:g.892253C>T	ENSP00000384116:p.Arg324*		858779	NM_001130965	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Nonsense_Mutation	SNP	ENST00000405266.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.306572|4.306572	0.81247|0.81247	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000450881;ENST00000429178;ENST00000413514|ENST00000433212	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.231863|.	0.45126|.	D|.	0.000389|.	.|T	.|0.63651	.|0.2529	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68796	.|-0.5314	.|3	0.21014|.	T|.	0.42|.	-17.9323|-17.9323	13.0845|13.0845	0.59132|0.59132	0.0:0.9261:0.0:0.0739|0.0:0.9261:0.0:0.0739	.|.	.|.	.|.	.|.	X|L	476;204;185;324;287;314;204;160;212;96|135	.|.	ENSP00000297445:R314X|.	R|S	+|+	1|2	2|0	SUN1|SUN1	858779|858779	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.128000|0.128000	0.20619|0.20619	3.899000|3.899000	0.56288|0.56288	2.758000|2.758000	0.94735|0.94735	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.418	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	
SUN1	23353	broad.mit.edu	37	7	897581	897581	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:897581C>T	ENST00000405266.1	+	14	1646	c.1622C>T	c.(1621-1623)gCc>gTc	p.A541V	SUN1_ENST00000389574.3_Missense_Mutation_p.A421V|SUN1_ENST00000401592.1_Missense_Mutation_p.A504V|SUN1_ENST00000413514.2_Missense_Mutation_p.A302V|SUN1_ENST00000452783.2_Missense_Mutation_p.A401V|SUN1_ENST00000456758.2_Missense_Mutation_p.A693V|SUN1_ENST00000425407.2_Missense_Mutation_p.A421V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	531					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.A421V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAGTGGATGCCGTACAAGAA	0.443																																					p.A504V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1511T	7						.						124.0	132.0	130.0					7																	897581		1965	4140	6105	864107	SO:0001583	missense	23353	exon13			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1622C>T	7.37:g.897581C>T	ENSP00000384116:p.Ala541Val		864107	NM_001130965	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37		.	.	.	.	.	.	.	.	.	.	C	10.22	1.289398	0.23478	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	T;T;T;T;T;T;T;T	0.22336	2.27;2.29;2.29;2.28;2.28;2.29;1.96;1.97	4.84	0.604	0.17547	.	0.947749	0.08851	N	0.884393	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B;B;P;B;B;B	0.35077	0.03;0.083;0.483;0.081;0.278;0.023	B;B;B;B;B;B	0.27887	0.012;0.012;0.084;0.012;0.057;0.019	T	0.30650	-0.9971	10	0.27082	T	0.32	-0.1482	4.7319	0.12968	0.0:0.3991:0.1552:0.4457	.	302;401;504;693;531;421	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.;.;.;.;SUN1_HUMAN;.	V	693;421;401;541;504;531;421;429;302	ENSP00000388743:A693V;ENSP00000374225:A421V;ENSP00000413439:A401V;ENSP00000384116:A541V;ENSP00000384015:A504V;ENSP00000392309:A421V;ENSP00000409909:A429V;ENSP00000389313:A302V	ENSP00000297445:A531V	A	+	2	0	SUN1	864107	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.048000	0.11944	-0.110000	0.12022	-0.345000	0.07892	GCC		0.443	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	
SUN1	23353	broad.mit.edu	37	7	899821	899821	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:899821C>T	ENST00000405266.1	+	15	1716	c.1692C>T	c.(1690-1692)ggC>ggT	p.G564G	SUN1_ENST00000389574.3_Silent_p.G444G|SUN1_ENST00000401592.1_Silent_p.G527G|SUN1_ENST00000413514.2_Silent_p.G325G|SUN1_ENST00000452783.2_Silent_p.G424G|SUN1_ENST00000456758.2_Silent_p.G716G|SUN1_ENST00000425407.2_Silent_p.G444G			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	554					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.G444G(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCAGCAAGGCGGTTCTCTGG	0.493																																					p.G527G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1581T	7						.						56.0	58.0	57.0					7																	899821		1987	4164	6151	866347	SO:0001819	synonymous_variant	23353	exon14			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1692C>T	7.37:g.899821C>T			866347	NM_001130965	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	ENST00000405266.1	37		.	.	.	.	.	.	.	.	.	.	C	4.899	0.166998	0.09339	.	.	ENSG00000164828	ENST00000433212	.	.	.	5.16	-8.23	0.01033	.	.	.	.	.	T	0.15522	0.0374	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20338	-1.0278	4	.	.	.	-2.4243	2.127	0.03741	0.2018:0.1255:0.155:0.5177	.	.	.	.	W	376	.	.	R	+	1	2	SUN1	866347	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.425000	0.01028	-1.613000	0.01577	-1.058000	0.02302	CGG		0.493	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154	
SDK1	221935	broad.mit.edu	37	7	3678692	3678692	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:3678692G>A	ENST00000404826.2	+	3	654	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	SDK1_ENST00000389531.3_Missense_Mutation_p.R172Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	172	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R172Q(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGCGTGGTGCGAAACAGAATG	0.413																																					p.R172Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G515A	7						.						78.0	68.0	71.0					7																	3678692		2203	4300	6503	3645218	SO:0001583	missense	221935	exon3			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.515G>A	7.37:g.3678692G>A	ENSP00000385899:p.Arg172Gln		3645218	NM_152744	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228292	0.95173	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.60040	0.22;0.22	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.37178	N	0.002214	T	0.70281	0.3206	L	0.45744	1.44	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.72316	-0.4330	10	0.59425	D	0.04	.	16.1776	0.81862	0.0:0.0:1.0:0.0	.	172	Q7Z5N4	SDK1_HUMAN	Q	172	ENSP00000385899:R172Q;ENSP00000374182:R172Q	ENSP00000374182:R172Q	R	+	2	0	SDK1	3645218	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.665000	0.91144	2.397000	0.81536	0.563000	0.77884	CGA		0.413	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
PAPOLB	56903	broad.mit.edu	37	7	4901057	4901057	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:4901057C>T	ENST00000404991.1	-	1	568	c.382G>A	c.(382-384)Gac>Aac	p.D128N	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	128					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.D128N(1)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GTGAAAAAGTCGCTTCGATCC	0.428																																					p.D129N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G385A	7						.						77.0	77.0	77.0					7																	4901057		2106	4260	6366	4867583	SO:0001583	missense	56903	exon1			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.382G>A	7.37:g.4901057C>T	ENSP00000384700:p.Asp128Asn		4867583	NM_020144	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		.	.	.	.	.	.	.	.	.	.	C	16.24	3.067483	0.55539	.	.	ENSG00000218823	ENST00000404991	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	D	0.83991	0.5374	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87326	0.2321	8	0.87932	D	0	.	14.3795	0.66902	0.0:1.0:0.0:0.0	.	129	A4D1Z6	.	N	128	.	ENSP00000384700:D128N	D	-	1	0	PAPOLB	4867583	1.000000	0.71417	0.951000	0.38953	0.150000	0.21749	5.745000	0.68672	2.527000	0.85204	0.585000	0.79938	GAC		0.428	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144	
PAPOLB	56903	broad.mit.edu	37	7	4901237	4901237	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:4901237A>C	ENST00000404991.1	-	1	388	c.202T>G	c.(202-204)Tta>Gta	p.L68V	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	68					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.L68V(1)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AGATTATTTAATTTTTCCAAA	0.448																																					p.L69V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T205G	7						.						44.0	43.0	43.0					7																	4901237		1879	4140	6019	4867763	SO:0001583	missense	56903	exon1			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.202T>G	7.37:g.4901237A>C	ENSP00000384700:p.Leu68Val		4867763	NM_020144	Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37		.	.	.	.	.	.	.	.	.	.	A	10.64	1.406878	0.25378	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.24	0.555	0.17247	.	.	.	.	.	T	0.63954	0.2555	M	0.69823	2.125	0.49483	D	0.999792	P	0.38617	0.64	P	0.53518	0.728	T	0.60505	-0.7250	8	0.52906	T	0.07	.	4.024	0.09678	0.6654:0.0:0.18:0.1546	.	69	A4D1Z6	.	V	68	.	ENSP00000384700:L68V	L	-	1	2	PAPOLB	4867763	1.000000	0.71417	0.993000	0.49108	0.074000	0.17049	1.361000	0.34136	0.093000	0.17368	-0.250000	0.11733	TTA		0.448	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144	
OCM	654231	broad.mit.edu	37	7	5920531	5920531	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:5920531C>T	ENST00000242104.5	+	1	103	c.11C>T	c.(10-12)aCg>aTg	p.T4M	OCM_ENST00000416608.1_Missense_Mutation_p.T4M	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	4							calcium ion binding (GO:0005509)	p.T4M(1)		endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ATGAGCATCACGGACGTGCTC	0.547																																					p.T4M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C11T	7						.						114.0	102.0	106.0					7																	5920531		2203	4300	6503	5887057	SO:0001583	missense	654231	exon1			BC069468	CCDS43548.1	7p22.1	2013-01-10						"""EF-hand domain containing"""	8105	protein-coding gene	gene with protein product	"""oncomodulin 1"""	164795				1559707, 8354278	Standard	NM_001097622		Approved	OCM1	uc003spe.4	P0CE72		ENST00000242104.5:c.11C>T	7.37:g.5920531C>T	ENSP00000242104:p.Thr4Met		5887057	NM_001097622	B9EJH7|P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000242104.5	37	CCDS43548.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593745	0.66219	.	.	ENSG00000122543	ENST00000416608;ENST00000242104	T;T	0.78126	-1.15;-1.15	4.17	4.17	0.49024	.	0.063541	0.64402	D	0.000008	T	0.81763	0.4891	M	0.84773	2.715	0.45580	D	0.998525	D	0.76494	0.999	P	0.46110	0.504	D	0.86288	0.1672	10	0.72032	D	0.01	-15.4981	14.3494	0.66691	0.0:1.0:0.0:0.0	.	4	P0CE72	ONCO_HUMAN	M	4	ENSP00000401365:T4M;ENSP00000242104:T4M	ENSP00000242104:T4M	T	+	2	0	OCM	5887057	0.960000	0.32886	0.972000	0.41901	0.929000	0.56500	2.103000	0.41806	2.046000	0.60703	0.502000	0.49764	ACG		0.547	OCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340372.1	NM_001097622	
PMS2	5395	broad.mit.edu	37	7	6022502	6022502	+	Silent	SNP	G	G	A	rs199943748	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:6022502G>A	ENST00000265849.7	-	12	2232	c.2127C>T	c.(2125-2127)ttC>ttT	p.F709F	PMS2_ENST00000469652.1_5'Flank|PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Silent_p.F308F|PMS2_ENST00000441476.2_Silent_p.F603F	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	709					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.F709F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCAGCATCTCGAAGTTATACT	0.458			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				G|||	2	0.000399361	0.0	0.0	5008	,	,		17747	0.001		0.001	False		,,,				2504	0.0				p.F709F		yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2127T	7						.						18.0	18.0	18.0					7																	6022502		2199	4278	6477	5989028	SO:0001819	synonymous_variant	5395	exon12	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2127C>T	7.37:g.6022502G>A			5989028	NM_000535	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																				0.458	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	
FAM220A	84792	broad.mit.edu	37	7	6370105	6370105	+	Missense_Mutation	SNP	G	G	T	rs559612916		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:6370105G>T	ENST00000313324.4	-	2	1148	c.681C>A	c.(679-681)ttC>ttA	p.F227L	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	227						nucleus (GO:0005634)		p.F227L(1)									GCATTTTCTTGAATTCTATTG	0.418																																					p.F227L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C681A	7						.						102.0	109.0	107.0					7																	6370105		2203	4300	6503	6336630	SO:0001583	missense	84792	exon2			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.681C>A	7.37:g.6370105G>T	ENSP00000317289:p.Phe227Leu		6336630	NM_001037163	Q75ML2|Q8NA52|Q9BRR7	Missense_Mutation	SNP	ENST00000313324.4	37	CCDS34599.1	.	.	.	.	.	.	.	.	.	.	G	9.558	1.117613	0.20877	.	.	ENSG00000178397	ENST00000313324	T	0.08807	3.05	4.98	-0.93	0.10441	.	1.040850	0.07669	U	0.935119	T	0.05960	0.0155	N	0.22421	0.69	0.32865	D	0.508482	B	0.18610	0.029	B	0.16289	0.015	T	0.37361	-0.9709	10	0.30854	T	0.27	-0.8603	8.4279	0.32739	0.7306:0.0:0.2694:0.0	.	227	Q7Z4H9	SIPAR_HUMAN	L	227	ENSP00000317289:F227L	ENSP00000317289:F227L	F	-	3	2	C7orf70	6336630	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.158000	0.10070	-0.080000	0.12685	-0.140000	0.14226	TTC		0.418	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163	
FAM220A	84792	broad.mit.edu	37	7	6370624	6370624	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:6370624T>C	ENST00000313324.4	-	2	629	c.162A>G	c.(160-162)ggA>ggG	p.G54G	FAM220A_ENST00000533877.1_5'Flank	NM_001037163.1	NP_001032240.1	Q7Z4H9	F220A_HUMAN	family with sequence similarity 220, member A	54						nucleus (GO:0005634)		p.G54G(1)									TTTGTGAATTTCCATCAACCA	0.527																																					p.G54G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A162G	7						.						47.0	46.0	46.0					7																	6370624		2203	4299	6502	6337149	SO:0001819	synonymous_variant	84792	exon2			BC006110	CCDS34599.1	7p22.1	2012-03-19	2012-03-19	2012-03-19	ENSG00000178397	ENSG00000178397			22422	protein-coding gene	gene with protein product	"""STAT3-interacting protein as a repressor"""		"""chromosome 7 open reading frame 70"""	C7orf70			Standard	NM_001037163		Approved	SIPAR, MGC12966	uc003spu.3	Q7Z4H9	OTTHUMG00000122091	ENST00000313324.4:c.162A>G	7.37:g.6370624T>C			6337149	NM_001037163	Q75ML2|Q8NA52|Q9BRR7	Silent	SNP	ENST00000313324.4	37	CCDS34599.1																																																																																				0.527	FAM220A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000242853.2	NM_001037163	
NXPH1	30010	broad.mit.edu	37	7	8790737	8790737	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:8790737G>A	ENST00000405863.1	+	3	1065	c.154G>A	c.(154-156)Gac>Aac	p.D52N	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	52	II.					extracellular region (GO:0005576)		p.D52N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAGCAGCAAAGACTTGTCTAT	0.443																																					p.D52N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G154A	7						.						78.0	76.0	77.0					7																	8790737		1980	4171	6151	8757262	SO:0001583	missense	30010	exon3			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.154G>A	7.37:g.8790737G>A	ENSP00000384551:p.Asp52Asn		8757262	NM_152745	Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927335	0.34002	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	6.07	5.19	0.71726	.	0.134719	0.64402	D	0.000003	T	0.42539	0.1207	N	0.19112	0.55	0.80722	D	1	B	0.27498	0.18	B	0.18871	0.023	T	0.23084	-1.0198	9	0.20519	T	0.43	-15.0119	17.3981	0.87452	0.0:0.1248:0.8752:0.0	.	52	P58417	NXPH1_HUMAN	N	52	.	ENSP00000384551:D52N	D	+	1	0	NXPH1	8757262	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.441000	0.97557	1.555000	0.49500	0.655000	0.94253	GAC		0.443	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745	
SNX13	23161	broad.mit.edu	37	7	17836457	17836457	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:17836457A>C	ENST00000409389.1	-	25	2824	c.2652T>G	c.(2650-2652)atT>atG	p.I884M	SNX13_ENST00000428135.3_Missense_Mutation_p.I873M|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	884					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.I873M(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CACCTGGCATAATTGCAAGTA	0.353																																					p.I873M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2619G	7						.						181.0	162.0	168.0					7																	17836457		1842	4087	5929	17802982	SO:0001583	missense	23161	exon25			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2652T>G	7.37:g.17836457A>C	ENSP00000386705:p.Ile884Met		17802982	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	A	13.11	2.139611	0.37728	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.30448	1.53;1.53	5.41	2.12	0.27331	.	0.042414	0.85682	D	0.000000	T	0.21307	0.0513	L	0.40543	1.245	0.80722	D	1	B;B;P	0.35272	0.013;0.004;0.493	B;B;B	0.37550	0.012;0.027;0.253	T	0.03077	-1.1075	10	0.35671	T	0.21	-12.5529	4.6547	0.12611	0.5072:0.0:0.0955:0.3974	.	670;884;873	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	M	884;873;921	ENSP00000386705:I884M;ENSP00000398789:I873M	ENSP00000242044:I921M	I	-	3	3	SNX13	17802982	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.039000	0.41193	2.046000	0.60703	0.455000	0.32223	ATT		0.353	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	
SNX13	23161	broad.mit.edu	37	7	17841230	17841230	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:17841230G>A	ENST00000409389.1	-	22	2484	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	SNX13_ENST00000428135.3_Missense_Mutation_p.S760L|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	771					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.S760L(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAGTTGAGCCGAAACTCGGCG	0.338																																					p.S760L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2279T	7						.						69.0	63.0	65.0					7																	17841230		1844	4086	5930	17807755	SO:0001583	missense	23161	exon22			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2312C>T	7.37:g.17841230G>A	ENSP00000386705:p.Ser771Leu		17807755	NM_015132	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	G	18.00	3.526264	0.64860	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.19105	2.17;2.37	6.06	6.06	0.98353	.	0.114915	0.64402	D	0.000008	T	0.24275	0.0588	M	0.61703	1.905	0.80722	D	1	B;B;P	0.36837	0.089;0.033;0.571	B;B;B	0.29663	0.035;0.015;0.105	T	0.02625	-1.1132	10	0.25106	T	0.35	-11.5587	20.6397	0.99537	0.0:0.0:1.0:0.0	.	557;771;760	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	L	771;760;808	ENSP00000386705:S771L;ENSP00000398789:S760L	ENSP00000242044:S808L	S	-	2	0	SNX13	17807755	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	6.939000	0.75911	2.880000	0.98712	0.650000	0.86243	TCG		0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132	
HDAC9	9734	broad.mit.edu	37	7	18788706	18788706	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:18788706G>A	ENST00000432645.2	+	13	1979	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	HDAC9_ENST00000441542.2_Missense_Mutation_p.R663Q|HDAC9_ENST00000401921.1_Missense_Mutation_p.R619Q|HDAC9_ENST00000406451.4_Missense_Mutation_p.R660Q	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	660	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.R663Q(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CATGCTGGACGAATACAGAGT	0.433																																					p.R660Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1979A	7						.						81.0	80.0	81.0					7																	18788706		1932	4161	6093	18755231	SO:0001583	missense	9734	exon14			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1979G>A	7.37:g.18788706G>A	ENSP00000410337:p.Arg660Gln		18755231	NM_178423	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472996	0.96274	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.3	5.3	0.74995	Histone deacetylase domain (2);	0.000000	0.49916	D	0.000121	D	0.95950	0.8681	H	0.99834	4.825	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.991;0.991;0.995;0.991;0.995	D	0.97919	1.0313	10	0.87932	D	0	-5.3111	19.1356	0.93426	0.0:0.0:1.0:0.0	.	660;572;619;663;660;660;638	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	Q	660;619;660;663;572	ENSP00000384657:R660Q;ENSP00000383912:R619Q;ENSP00000410337:R660Q;ENSP00000408617:R663Q	ENSP00000339165:R572Q	R	+	2	0	HDAC9	18755231	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.657000	0.98554	2.756000	0.94617	0.563000	0.77884	CGA		0.433	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		
ITGB8	3696	broad.mit.edu	37	7	20441372	20441372	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:20441372A>C	ENST00000222573.4	+	10	1994	c.1310A>C	c.(1309-1311)aAa>aCa	p.K437T	ITGB8_ENST00000537992.1_Missense_Mutation_p.K302T	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	437					cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.K437T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTTACAATGAAAAAATGTGAT	0.274																																					p.K437T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1310C	7						.						60.0	65.0	63.0					7																	20441372		2202	4300	6502	20407897	SO:0001583	missense	3696	exon10				CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.1310A>C	7.37:g.20441372A>C	ENSP00000222573:p.Lys437Thr		20407897	NM_002214	A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477604	0.44044	.	.	ENSG00000105855	ENST00000537992;ENST00000222573	T;T	0.64260	-0.09;-0.09	5.96	5.96	0.96718	Integrin beta subunit, N-terminal (2);	0.516776	0.21718	N	0.070177	T	0.42381	0.1200	N	0.11201	0.11	0.38799	D	0.955161	B	0.28470	0.213	B	0.26614	0.071	T	0.43278	-0.9401	10	0.09338	T	0.73	.	16.437	0.83878	1.0:0.0:0.0:0.0	.	437	P26012	ITB8_HUMAN	T	302;437	ENSP00000441561:K302T;ENSP00000222573:K437T	ENSP00000222573:K437T	K	+	2	0	ITGB8	20407897	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.062000	0.49971	2.278000	0.76064	0.533000	0.62120	AAA		0.274	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	
ABCB5	340273	broad.mit.edu	37	7	20687261	20687261	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:20687261T>C	ENST00000404938.2	+	10	1737	c.1085T>C	c.(1084-1086)gTt>gCt	p.V362A	ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	362					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATTTTCCAGGTTATTGATAAG	0.378																																					p.V362A												.	.	0			c.T1085C	7						.						60.0	52.0	55.0					7																	20687261		1564	3580	5144	20653786	SO:0001583	missense	340273	exon10			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1085T>C	7.37:g.20687261T>C	ENSP00000384881:p.Val362Ala		20653786	NM_001163941	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694226	0.48202	.	.	ENSG00000004846	ENST00000404938	D	0.81821	-1.54	4.09	4.09	0.47781	.	.	.	.	.	T	0.73885	0.3644	L	0.58583	1.82	0.80722	D	1	P	0.35481	0.504	B	0.26094	0.066	T	0.75961	-0.3133	9	0.45353	T	0.12	.	12.8739	0.57980	0.0:0.0:0.0:1.0	.	362	A7BKA4	.	A	362	ENSP00000384881:V362A	ENSP00000384881:V362A	V	+	2	0	ABCB5	20653786	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	2.563000	0.45922	2.087000	0.62958	0.533000	0.62120	GTT		0.378	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
DNAH11	8701	broad.mit.edu	37	7	21611487	21611487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:21611487G>T	ENST00000409508.3	+	8	1520	c.1489G>T	c.(1489-1491)Gga>Tga	p.G497*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.G497*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	497	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G497*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGTACCAAAGGAGCAATTTT	0.368									Kartagener syndrome																												p.G497X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1489T	7						.						94.0	90.0	91.0					7																	21611487		1823	4077	5900	21578012	SO:0001587	stop_gained	8701	exon8	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1489G>T	7.37:g.21611487G>T	ENSP00000475939:p.Gly497*		21578012	NM_003777	Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	40	8.102994	0.98654	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.87	5.87	0.94306	.	0.321794	0.32852	N	0.005570	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9896	0.92786	0.0:0.0:1.0:0.0	.	.	.	.	X	497	.	ENSP00000330671:G497X	G	+	1	0	DNAH11	21578012	1.000000	0.71417	0.916000	0.36221	0.844000	0.47949	6.771000	0.74996	2.785000	0.95823	0.655000	0.94253	GGA		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21640753	21640753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:21640753G>A	ENST00000409508.3	+	17	3412	c.3381G>A	c.(3379-3381)tgG>tgA	p.W1127*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.W1127*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1127	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W1127*(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAAGAAATGGAGCTGGATGT	0.348									Kartagener syndrome																												p.W1127X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)	c.G3381A	7						.						115.0	108.0	110.0					7																	21640753		1856	4100	5956	21607278	SO:0001587	stop_gained	8701	exon17	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3381G>A	7.37:g.21640753G>A	ENSP00000475939:p.Trp1127*		21607278	NM_003777	Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	43	10.255668	0.99369	.	.	ENSG00000105877	ENST00000328843	.	.	.	5.56	5.56	0.83823	.	0.129139	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1212	0.93364	0.0:0.0:1.0:0.0	.	.	.	.	X	1127	.	ENSP00000330671:W1127X	W	+	3	0	DNAH11	21607278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.227000	0.95236	2.632000	0.89209	0.655000	0.94253	TGG		0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
DNAH11	8701	broad.mit.edu	37	7	21730462	21730462	+	Nonsense_Mutation	SNP	C	C	T	rs373844629		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:21730462C>T	ENST00000409508.3	+	35	6035	c.6004C>T	c.(6004-6006)Cga>Tga	p.R2002*	DNAH11_ENST00000328843.6_Nonsense_Mutation_p.R2009*	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2009	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2009*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATGCTGGTCGAACCGAATT	0.408									Kartagener syndrome																												p.S2009L												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C6026T	7						.	C	stop/ARG	0,3714		0,0,1857	170.0	164.0	166.0		6026	6.2	1.0	7		166	1,8187		0,1,4093	no	stop-gained	DNAH11	NM_003777.3		0,1,5950	TT,TC,CC		0.0122,0.0,0.0084		2009/4524	21730462	1,11901	1857	4094	5951	21696987	SO:0001587	stop_gained	8701	exon35	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6004C>T	7.37:g.21730462C>T	ENSP00000475939:p.Arg2002*		21696987	NM_003777	Q9UJ82	Nonsense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	48	14.255655	0.99786	0.0	1.22E-4	ENSG00000105877	ENST00000328843	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	.	.	.	X	2009	.	ENSP00000330671:R2009X	R	+	1	2	DNAH11	21696987	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.501000	0.45389	2.941000	0.99782	0.655000	0.94253	CGA		0.408	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
RAPGEF5	9771	broad.mit.edu	37	7	22259567	22259567	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:22259567C>T	ENST00000405243.1	-	9	997	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.R152Q|RAPGEF5_ENST00000475788.1_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.R152Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TAGTTCAATTCGTCCGATTTC	0.433																																					p.R152Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G455A	7						.						112.0	103.0	106.0					7																	22259567		1858	4101	5959	22226092	SO:0001583	missense	9771	exon9			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.914G>A	7.37:g.22259567C>T	ENSP00000384870:p.Arg305Gln		22226092	NM_012294	A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000405243.1	37		.	.	.	.	.	.	.	.	.	.	C	17.64	3.438680	0.62955	.	.	ENSG00000136237	ENST00000344041;ENST00000420196;ENST00000405243	D;D;D	0.86432	-2.12;-2.12;-2.12	5.69	4.8	0.61643	.	0.291570	0.25964	N	0.027177	D	0.88217	0.6377	L	0.35723	1.085	0.50313	D	0.999866	D	0.89917	1.0	D	0.63957	0.92	D	0.84864	0.0821	10	0.16420	T	0.52	.	14.5144	0.67809	0.0:0.9295:0.0:0.0705	.	152	A8MQ07	.	Q	152;33;305	ENSP00000343656:R152Q;ENSP00000395729:R33Q;ENSP00000384870:R305Q	ENSP00000343656:R152Q	R	-	2	0	RAPGEF5	22226092	0.989000	0.36119	0.970000	0.41538	0.888000	0.51559	3.094000	0.50227	1.402000	0.46780	0.561000	0.74099	CGA		0.433	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294	
FAM126A	84668	broad.mit.edu	37	7	22985253	22985253	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:22985253A>G	ENST00000432176.2	-	11	1753	c.1521T>C	c.(1519-1521)ggT>ggC	p.G507G	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'Flank	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	507					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.G507G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						GTCTCTGCTGACCTGATTGAT	0.388																																					p.G507G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1521C	7						.						100.0	103.0	102.0					7																	22985253		2203	4300	6503	22951778	SO:0001819	synonymous_variant	84668	exon11			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1521T>C	7.37:g.22985253A>G			22951778	NM_032581	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	CCDS5377.1																																																																																				0.388	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581	
KLHL7	55975	broad.mit.edu	37	7	23205532	23205532	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:23205532T>G	ENST00000339077.5	+	8	1395	c.1152T>G	c.(1150-1152)atT>atG	p.I384M	KLHL7_ENST00000409689.1_Missense_Mutation_p.I336M|KLHL7_ENST00000545443.1_Missense_Mutation_p.I362M|KLHL7_ENST00000539124.1_Missense_Mutation_p.I308M|KLHL7_ENST00000322231.7_Missense_Mutation_p.I362M|KLHL7_ENST00000542558.1_Missense_Mutation_p.I159M	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	384					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.I362M(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAGGCAAAATTTATACATCTG	0.413																																					p.I384M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1152G	7						.						89.0	99.0	95.0					7																	23205532		2203	4300	6503	23172057	SO:0001583	missense	55975	exon8				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1152T>G	7.37:g.23205532T>G	ENSP00000343273:p.Ile384Met		23172057	NM_001031710	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.625693	0.66901	.	.	ENSG00000122550	ENST00000538858;ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.77	3.38	0.38709	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.89508	0.6735	M	0.73372	2.23	0.46096	D	0.998861	D;P;P	0.71674	0.998;0.954;0.943	D;P;P	0.73380	0.98;0.795;0.494	D	0.87375	0.2353	10	0.38643	T	0.18	.	8.7167	0.34416	0.0:0.2082:0.0:0.7918	.	159;384;362	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	M	225;350;362;384;308;159;336;362	ENSP00000322958:I362M;ENSP00000343273:I384M;ENSP00000441136:I308M;ENSP00000442367:I159M;ENSP00000386263:I336M;ENSP00000442366:I362M	ENSP00000322958:I362M	I	+	3	3	KLHL7	23172057	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.879000	0.28146	1.016000	0.39470	0.383000	0.25322	ATT		0.413	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	
KLHL7	55975	broad.mit.edu	37	7	23213673	23213673	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:23213673A>G	ENST00000339077.5	+	11	1760	c.1517A>G	c.(1516-1518)aAc>aGc	p.N506S	KLHL7_ENST00000409689.1_Missense_Mutation_p.N458S|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000545443.1_Missense_Mutation_p.N484S|KLHL7_ENST00000539124.1_Missense_Mutation_p.N430S|KLHL7_ENST00000322231.7_Missense_Mutation_p.N484S|KLHL7_ENST00000542558.1_Missense_Mutation_p.N281S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	506					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.N484S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTAAGTTGAACGAATGGAAG	0.373																																					p.N506S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1517G	7						.						222.0	195.0	204.0					7																	23213673		2203	4300	6503	23180198	SO:0001583	missense	55975	exon11				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1517A>G	7.37:g.23213673A>G	ENSP00000343273:p.Asn506Ser		23180198	NM_001031710	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277993	0.59758	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.62	5.62	0.85841	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.88105	2.93	0.53688	D	0.999978	P;B;B	0.43857	0.819;0.421;0.13	B;B;B	0.38755	0.281;0.057;0.008	D	0.88406	0.3018	10	0.62326	D	0.03	.	15.8181	0.78621	1.0:0.0:0.0:0.0	.	281;506;484	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	S	347;484;506;430;281;458;484	ENSP00000322958:N484S;ENSP00000343273:N506S;ENSP00000441136:N430S;ENSP00000442367:N281S;ENSP00000386263:N458S;ENSP00000442366:N484S	ENSP00000322958:N484S	N	+	2	0	KLHL7	23180198	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	8.730000	0.91510	2.139000	0.66308	0.533000	0.62120	AAC		0.373	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	
SKAP2	8935	broad.mit.edu	37	7	26766622	26766622	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:26766622T>C	ENST00000345317.2	-	7	786	c.473A>G	c.(472-474)aAa>aGa	p.K158R	SKAP2_ENST00000539623.1_5'UTR|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	158	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K158R(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TTTCTGTTGTTTGTCTGTTGA	0.299																																					p.K158R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A473G	7						.						76.0	71.0	73.0					7																	26766622		2202	4299	6501	26733147	SO:0001583	missense	8935	exon7				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.473A>G	7.37:g.26766622T>C	ENSP00000005587:p.Lys158Arg		26733147	NM_003930	A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927527	0.73327	.	.	ENSG00000005020	ENST00000345317;ENST00000535331	T	0.14022	2.54	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.68593	2.085	0.80722	D	1	D;P	0.60160	0.987;0.881	D;P	0.71656	0.974;0.584	T	0.05305	-1.0893	10	0.54805	T	0.06	-2.811	15.6516	0.77099	0.0:0.0:0.0:1.0	.	143;158	B7Z5N4;O75563	.;SKAP2_HUMAN	R	158;143	ENSP00000005587:K158R	ENSP00000005587:K158R	K	-	2	0	SKAP2	26733147	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.100000	0.63781	0.528000	0.53228	AAA		0.299	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1		
HOXA5	3202	broad.mit.edu	37	7	27181553	27181553	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:27181553T>C	ENST00000222726.3	-	2	774	c.714A>G	c.(712-714)caA>caG	p.Q238Q	HOXA5_ENST00000520854.1_5'UTR|HOXA3_ENST00000521401.1_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	238					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q238Q(1)		central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						AGATTTTAATTTGTCTCTCGG	0.502											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q238Q	Colon(119;75 2200 7557 42868)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A714G	7						.						124.0	124.0	124.0					7																	27181553		2203	4300	6503	27148078	SO:0001819	synonymous_variant	3202	exon2				CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.714A>G	7.37:g.27181553T>C		792	27148078	NM_019102	A4D179|O43367|Q96CY6	Silent	SNP	ENST00000222726.3	37	CCDS5406.1																																																																																				0.502	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1		
HOXA6	3203	broad.mit.edu	37	7	27187047	27187047	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:27187047C>T	ENST00000222728.3	-	1	346	c.322G>A	c.(322-324)Gag>Aag	p.E108K	HOXA-AS3_ENST00000524304.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	108					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E108K(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						TACTGCTGCTCGGGAGAAAAG	0.627																																					p.E108K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	7						.						60.0	60.0	60.0					7																	27187047		2203	4300	6503	27153572	SO:0001583	missense	3203	exon1				CCDS5407.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106006	ENSG00000106006		"""Homeoboxes / ANTP class : HOXL subclass"""	5107	protein-coding gene	gene with protein product		142951	"""homeo box A6"""	HOX1B, HOX1		1973146, 1358459	Standard	NM_024014		Approved		uc003syo.2	P31267	OTTHUMG00000023216	ENST00000222728.3:c.322G>A	7.37:g.27187047C>T	ENSP00000222728:p.Glu108Lys		27153572	NM_024014	A4D192|Q2M3G3|Q9UPM0	Missense_Mutation	SNP	ENST00000222728.3	37	CCDS5407.1	.	.	.	.	.	.	.	.	.	.	c	15.59	2.878067	0.51801	.	.	ENSG00000106006	ENST00000222728	D	0.90955	-2.76	5.07	5.07	0.68467	.	0.490292	0.21398	N	0.075183	D	0.85283	0.5661	L	0.54323	1.7	0.45852	D	0.998719	B	0.27679	0.185	B	0.15052	0.012	T	0.79883	-0.1615	10	0.07175	T	0.84	.	12.8593	0.57903	0.0:0.9217:0.0:0.0783	.	108	P31267	HXA6_HUMAN	K	108	ENSP00000222728:E108K	ENSP00000222728:E108K	E	-	1	0	HOXA6	27153572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.650000	0.54424	2.347000	0.79759	0.651000	0.88453	GAG		0.627	HOXA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358697.1		
PDE1C	5137	broad.mit.edu	37	7	32109918	32109918	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:32109918G>A	ENST00000396191.1	-	1	543	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Missense_Mutation_p.R30W|PDE1C_ENST00000396184.3_Missense_Mutation_p.R30W|PDE1C_ENST00000396182.2_Missense_Mutation_p.R30W	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	30					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R30W(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCGCGGAGCCGAAGCCAGATT	0.512																																					p.R30W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C88T	7						.						139.0	139.0	139.0					7																	32109918		2203	4300	6503	32076443	SO:0001583	missense	5137	exon1			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.88C>T	7.37:g.32109918G>A	ENSP00000379494:p.Arg30Trp		32076443	NM_001191056	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923284	0.73213	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	T;T;T;T	0.74106	-0.81;-0.81;-0.79;-0.79	4.94	1.99	0.26369	.	.	.	.	.	T	0.81635	0.4864	L	0.50333	1.59	0.33465	D	0.585394	D;D	0.89917	1.0;1.0	D;D	0.77557	0.985;0.99	D	0.85287	0.1065	9	0.87932	D	0	.	13.7732	0.63038	0.0:0.0:0.6154:0.3846	.	30;30	Q14123-2;Q14123	.;PDE1C_HUMAN	W	30	ENSP00000379494:R30W;ENSP00000318105:R30W;ENSP00000379487:R30W;ENSP00000379485:R30W	ENSP00000318105:R30W	R	-	1	2	PDE1C	32076443	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	2.234000	0.43035	0.302000	0.22762	0.655000	0.94253	CGG		0.512	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		
PDE1C	5137	broad.mit.edu	37	7	32209525	32209525	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:32209525C>T	ENST00000396193.1	-	3	773	c.180G>A	c.(178-180)ggG>ggA	p.G60G		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCCCTGTGAGCCCATCGATGA	0.522																																					p.G60G												.	.	0			c.G180A	7						.						264.0	224.0	236.0					7																	32209525		876	1991	2867	32176050	SO:0001819	synonymous_variant	5137	exon3			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.180G>A	7.37:g.32209525C>T			32176050	NM_001191058	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396193.1	37	CCDS55100.1																																																																																				0.522	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1		
FKBP9	11328	broad.mit.edu	37	7	33039783	33039783	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:33039783G>A	ENST00000242209.4	+	8	1452	c.1283G>A	c.(1282-1284)gGg>gAg	p.G428E	FKBP9_ENST00000538336.1_Missense_Mutation_p.G481E|FKBP9_ENST00000538443.1_Missense_Mutation_p.G290E|AVL9_ENST00000404479.1_Intron|RNU6-388P_ENST00000517012.1_RNA|FKBP9_ENST00000490776.2_Missense_Mutation_p.G196E	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	428	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.G428E(1)|p.G196E(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GTTGTGTTGGGGATGGACATG	0.493																																					p.G428E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1283A	7						.						135.0	128.0	131.0					7																	33039783		2203	4300	6503	33006308	SO:0001583	missense	11328	exon8			AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1283G>A	7.37:g.33039783G>A	ENSP00000242209:p.Gly428Glu		33006308	NM_007270	B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881161	0.91740	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000418354;ENST00000490776	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.15	5.15	0.70609	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.91331	0.7266	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94089	0.7351	10	0.87932	D	0	-9.2734	18.9975	0.92819	0.0:0.0:1.0:0.0	.	196;481;428	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	E	428;481;290;196;196	ENSP00000242209:G428E;ENSP00000439250:G481E;ENSP00000437504:G290E;ENSP00000391034:G196E;ENSP00000441317:G196E	ENSP00000242209:G428E	G	+	2	0	FKBP9	33006308	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	9.632000	0.98428	2.557000	0.86248	0.650000	0.86243	GGG		0.493	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270	
BMPER	168667	broad.mit.edu	37	7	34125566	34125566	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:34125566G>A	ENST00000297161.2	+	14	1981	c.1607G>A	c.(1606-1608)aGa>aAa	p.R536K	BMPER_ENST00000426693.1_Missense_Mutation_p.R536K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	536	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.R536K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTCTGCAACAGACCTCAGAGA	0.473																																					p.R536K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1607A	7						.						159.0	145.0	150.0					7																	34125566		2203	4300	6503	34092091	SO:0001583	missense	168667	exon13				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1607G>A	7.37:g.34125566G>A	ENSP00000297161:p.Arg536Lys		34092091	NM_133468	A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128435	0.77549	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.18657	2.2;2.2	6.08	6.08	0.98989	von Willebrand factor, type D domain (1);	0.143978	0.64402	D	0.000004	T	0.19406	0.0466	L	0.39245	1.2	0.52501	D	0.999957	B	0.16166	0.016	B	0.12156	0.007	T	0.12967	-1.0527	10	0.05959	T	0.93	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	536	Q8N8U9	BMPER_HUMAN	K	536	ENSP00000297161:R536K;ENSP00000393950:R536K	ENSP00000297161:R536K	R	+	2	0	BMPER	34092091	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.793000	0.55484	2.894000	0.99253	0.655000	0.94253	AGA		0.473	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468	
DPY19L1	23333	broad.mit.edu	37	7	34989478	34989478	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:34989478G>T	ENST00000310974.4	-	14	1278	c.1134C>A	c.(1132-1134)ttC>ttA	p.F378L		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	378						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F378L(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TATAACTAAAGAATTTTGATG	0.294																																					p.F378L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1134A	7						.						35.0	33.0	34.0					7																	34989478		1800	4058	5858	34956003	SO:0001583	missense	23333	exon14			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1134C>A	7.37:g.34989478G>T	ENSP00000308695:p.Phe378Leu		34956003	NM_015283	O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137422	0.37728	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.54279	0.58;0.58	5.09	5.09	0.68999	.	0.048832	0.85682	D	0.000000	T	0.59649	0.2209	L	0.49571	1.57	0.53005	D	0.999961	D	0.57257	0.979	D	0.74023	0.982	T	0.55211	-0.8176	10	0.14656	T	0.56	-18.1179	7.7651	0.28976	0.1814:0.0:0.8186:0.0	.	378	Q2PZI1	D19L1_HUMAN	L	378;148	ENSP00000308695:F378L;ENSP00000400510:F148L	ENSP00000308695:F378L	F	-	3	2	DPY19L1	34956003	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.226000	0.51254	2.508000	0.84585	0.591000	0.81541	TTC		0.294	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		
DPY19L1	23333	broad.mit.edu	37	7	34994375	34994375	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:34994375A>G	ENST00000310974.4	-	13	1180	c.1036T>C	c.(1036-1038)Ttt>Ctt	p.F346L	DPY19L1_ENST00000462134.2_5'Flank	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	346						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.F346L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AATAACCAAAAACATCCTTGA	0.279																																					p.F346L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1036C	7						.						24.0	20.0	21.0					7																	34994375		1786	4033	5819	34960900	SO:0001583	missense	23333	exon13			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1036T>C	7.37:g.34994375A>G	ENSP00000308695:p.Phe346Leu		34960900	NM_015283	O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	9.000	0.979953	0.18812	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.51817	0.69;0.69	5.17	-0.615	0.11587	.	0.641961	0.15850	N	0.241577	T	0.15652	0.0377	N	0.05078	-0.115	0.21290	N	0.999734	B	0.02656	0.0	B	0.04013	0.001	T	0.22208	-1.0223	10	0.02654	T	1	-3.968	1.7116	0.02893	0.4299:0.3092:0.092:0.169	.	346	Q2PZI1	D19L1_HUMAN	L	346;116	ENSP00000308695:F346L;ENSP00000400510:F116L	ENSP00000308695:F346L	F	-	1	0	DPY19L1	34960900	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	0.766000	0.26560	0.068000	0.16574	0.482000	0.46254	TTT		0.279	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		
ANLN	54443	broad.mit.edu	37	7	36461478	36461478	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:36461478G>A	ENST00000265748.2	+	13	2397	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	ANLN_ENST00000396068.2_Missense_Mutation_p.E689K	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	726					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.E726K(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ACTCAATAACGAAATAAATAT	0.343																																					p.E726K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2176A	7						.						75.0	76.0	76.0					7																	36461478		2203	4300	6503	36428003	SO:0001583	missense	54443	exon13			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2176G>A	7.37:g.36461478G>A	ENSP00000265748:p.Glu726Lys		36428003	NM_018685	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	CCDS5447.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408734	0.96072	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.16743	2.32;2.38	5.79	5.79	0.91817	.	0.043292	0.85682	D	0.000000	T	0.44456	0.1294	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	0.994;0.999;1.0;0.999	P;P;D;P	0.66084	0.71;0.874;0.941;0.874	T	0.30534	-0.9975	10	0.72032	D	0.01	-19.0877	20.0313	0.97540	0.0:0.0:1.0:0.0	.	603;688;689;726	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	K	726;689	ENSP00000265748:E726K;ENSP00000379380:E689K	ENSP00000265748:E726K	E	+	1	0	ANLN	36428003	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GAA		0.343	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685	
AMPH	273	broad.mit.edu	37	7	38433619	38433619	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:38433619C>A	ENST00000356264.2	-	18	1809	c.1594G>T	c.(1594-1596)Gca>Tca	p.A532S	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Missense_Mutation_p.A490S|AMPH_ENST00000325590.5_Missense_Mutation_p.A490S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	532					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.A532S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCACTGTTGCTTCGAGCTCC	0.557																																					p.A490S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1468T	7						.						139.0	114.0	122.0					7																	38433619		2203	4300	6503	38400144	SO:0001583	missense	273	exon17				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1594G>T	7.37:g.38433619C>A	ENSP00000348602:p.Ala532Ser		38400144	NM_139316	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.99|11.99	1.803142|1.803142	0.31869|0.31869	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	T;T;T|.	0.61158|.	0.14;0.21;0.13|.	5.93|5.93	2.17|2.17	0.27698|0.27698	.|.	1.396730|.	0.04205|.	N|.	0.330759|.	T|T	0.31199|0.31199	0.0789|0.0789	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P;B;B;D|.	0.58620|.	0.668;0.091;0.154;0.983|.	B;B;B;P|.	0.49999|.	0.434;0.107;0.092;0.628|.	T|T	0.21008|0.21008	-1.0258|-1.0258	10|5	0.06757|.	T|.	0.87|.	-0.7529|-0.7529	7.4234|7.4234	0.27085|0.27085	0.0:0.6662:0.0:0.3338|0.0:0.6662:0.0:0.3338	.|.	578;490;532;420|.	Q8NFL6;P49418-2;P49418;Q8NFL4|.	.;.;AMPH_HUMAN;.|.	S|I	490;532;490;434|414	ENSP00000317441:A490S;ENSP00000348602:A532S;ENSP00000390734:A490S|.	ENSP00000317441:A490S|.	A|S	-|-	1|2	0|0	AMPH|AMPH	38400144|38400144	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.019000|0.019000	0.09904|0.09904	0.598000|0.598000	0.24074|0.24074	0.424000|0.424000	0.26061|0.26061	-0.219000|-0.219000	0.12488|0.12488	GCA|AGC		0.557	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
AMPH	273	broad.mit.edu	37	7	38502589	38502589	+	Missense_Mutation	SNP	G	G	A	rs151055033		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:38502589G>A	ENST00000356264.2	-	10	1089	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	AMPH_ENST00000428293.2_Missense_Mutation_p.R292W|AMPH_ENST00000325590.5_Missense_Mutation_p.R292W	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	292					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.R292W(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAAGGTGACCGAGGCCGTGCT	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18709	0.0		0.0	False		,,,				2504	0.0				p.R292W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C874T	7						.						135.0	128.0	130.0					7																	38502589		2203	4300	6503	38469114	SO:0001583	missense	273	exon10				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.874C>T	7.37:g.38502589G>A	ENSP00000348602:p.Arg292Trp		38469114	NM_139316	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	18.47|18.47	3.631699|3.631699	0.67015|0.67015	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	6.17|6.17	-0.324|-0.324	0.12706|0.12706	.|.	0.238754|.	0.47455|.	D|.	0.000224|.	T|T	0.31071|0.31071	0.0785|0.0785	N|N	0.08118|0.08118	0|0	0.31913|0.31913	N|N	0.614416|0.614416	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;P;P|.	0.65140|.	0.932;0.895;0.893|.	T|T	0.28038|0.28038	-1.0056|-1.0056	10|5	0.87932|.	D|.	0|.	-14.774|-14.774	16.7578|16.7578	0.85504|0.85504	0.0:0.0:0.443:0.557|0.0:0.0:0.443:0.557	.|.	292;292;48|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	W|L	292;292;292;62;295|42	ENSP00000317441:R292W;ENSP00000348602:R292W;ENSP00000390734:R292W|.	ENSP00000317441:R292W|.	R|S	-|-	1|2	2|0	AMPH|AMPH	38469114|38469114	1.000000|1.000000	0.71417|0.71417	0.700000|0.700000	0.30305|0.30305	0.621000|0.621000	0.37620|0.37620	1.893000|1.893000	0.39758|0.39758	-0.265000|-0.265000	0.09352|0.09352	-0.262000|-0.262000	0.10625|0.10625	CGG|TCG		0.567	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
FAM183B	340286	broad.mit.edu	37	7	38725479	38725479	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:38725479G>A	ENST00000409072.3	-	2	1061	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	43										endometrium(1)|lung(7)	8						TGAACCTTGCGCAGGGGATTC	0.522																																					.												.	.	0			.	7						.						107.0	109.0	108.0					7																	38725479		1934	4132	6066	38692004	SO:0001583	missense	340286	.			AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.127C>T	7.37:g.38725479G>A	ENSP00000386657:p.Arg43Cys		38692004	.	A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37		.	.	.	.	.	.	.	.	.	.	G	7.133	0.580343	0.13686	.	.	ENSG00000164556	ENST00000409072	.	.	.	1.03	1.03	0.20045	.	0.496692	0.18940	N	0.126944	T	0.37156	0.0993	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24333	-1.0163	6	0.56958	D	0.05	.	5.2872	0.15708	0.0:0.0:1.0:0.0	.	.	.	.	C	43	.	ENSP00000386657:R43C	R	-	1	0	FAM183B	38692004	0.039000	0.19947	0.010000	0.14722	0.010000	0.07245	-0.730000	0.04915	0.458000	0.26988	0.467000	0.42956	CGC		0.522	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282	
VPS41	27072	broad.mit.edu	37	7	38798012	38798012	+	Missense_Mutation	SNP	G	G	A	rs372871510		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:38798012G>A	ENST00000310301.4	-	18	1546	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	VPS41_ENST00000395969.2_Missense_Mutation_p.R473W	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	498					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.R498W(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						AAATGATCCCGAACTGCTTGA	0.368																																					p.R498W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1492T	7						.						165.0	161.0	162.0					7																	38798012		2203	4300	6503	38764537	SO:0001583	missense	27072	exon18			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1492C>T	7.37:g.38798012G>A	ENSP00000309457:p.Arg498Trp		38764537	NM_014396	E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236170	0.58886	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.22539	1.95;1.95	6.07	5.18	0.71444	.	0.310402	0.35525	N	0.003145	T	0.10252	0.0251	N	0.24115	0.695	0.35342	D	0.786573	P;P;P	0.41978	0.767;0.767;0.767	B;B;B	0.30646	0.118;0.118;0.118	T	0.08827	-1.0703	10	0.72032	D	0.01	-16.2795	5.0171	0.14343	0.0784:0.1864:0.6047:0.1305	.	498;473;498	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	W	498;473	ENSP00000309457:R498W;ENSP00000379297:R473W	ENSP00000309457:R498W	R	-	1	2	VPS41	38764537	0.847000	0.29606	1.000000	0.80357	0.999000	0.98932	3.175000	0.50855	2.884000	0.98904	0.655000	0.94253	CGG		0.368	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		
INHBA	3624	broad.mit.edu	37	7	41729808	41729808	+	Missense_Mutation	SNP	G	G	A	rs150182559		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:41729808G>A	ENST00000242208.4	-	3	967	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	INHBA_ENST00000442711.1_Missense_Mutation_p.R241W|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	241					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)	p.R241W(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAGGCAATCCGAACGTCCAGG	0.572										TSP Lung(11;0.080)																											p.R241W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C721T	7						.	G	TRP/ARG	0,4406		0,0,2203	48.0	47.0	48.0		721	5.2	1.0	7	dbSNP_134	48	1,8599		0,1,4299	no	missense	INHBA	NM_002192.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	241/427	41729808	1,13005	2203	4300	6503	41696333	SO:0001583	missense	3624	exon3				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.721C>T	7.37:g.41729808G>A	ENSP00000242208:p.Arg241Trp		41696333	NM_002192	Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	22.6	4.308201	0.81247	0.0	1.16E-4	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.65916	-0.18;-0.18	6.06	5.15	0.70609	Transforming growth factor-beta, N-terminal (1);	0.431115	0.26859	N	0.022126	T	0.76133	0.3945	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77056	-0.2729	10	0.72032	D	0.01	-20.8404	14.439	0.67303	0.0:0.0:0.7358:0.2642	.	241	P08476	INHBA_HUMAN	W	241	ENSP00000242208:R241W;ENSP00000397197:R241W	ENSP00000242208:R241W	R	-	1	2	INHBA	41696333	0.993000	0.37304	0.989000	0.46669	0.994000	0.84299	2.039000	0.41193	2.882000	0.98803	0.655000	0.94253	CGG		0.572	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1		
C7orf25	79020	broad.mit.edu	37	7	42950417	42950417	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:42950417C>A	ENST00000350427.4	-	2	358	c.83G>T	c.(82-84)aGa>aTa	p.R28I	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000431882.2_Missense_Mutation_p.R86I|C7orf25_ENST00000438029.1_Missense_Mutation_p.R28I|C7orf25_ENST00000447342.1_Missense_Mutation_p.R28I			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	28								p.R28I(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GCCACCTTTTCTTGATCTAGA	0.423																																					p.R28I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G83T	7						.						154.0	152.0	153.0					7																	42950417		2203	4300	6503	42916942	SO:0001583	missense	79020	exon2			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.83G>T	7.37:g.42950417C>A	ENSP00000343364:p.Arg28Ile		42916942	NM_024054	A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569779	0.28003	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029;ENST00000425683;ENST00000421724;ENST00000432637	T;T;T;T	0.48836	0.88;0.88;0.8;0.88	5.67	3.84	0.44239	.	0.221107	0.38058	N	0.001834	T	0.29423	0.0733	N	0.19112	0.55	0.31235	N	0.695893	P;P;B	0.43169	0.8;0.8;0.214	B;B;B	0.38562	0.276;0.276;0.029	T	0.33033	-0.9884	10	0.62326	D	0.03	-10.645	6.9446	0.24512	0.0:0.6706:0.1421:0.1874	.	28;86;28	C9K0L6;B4DQM3;Q9BPX7	.;.;CG025_HUMAN	I	28;28;86;28;28;42;28	ENSP00000343364:R28I;ENSP00000413029:R28I;ENSP00000416290:R86I;ENSP00000396597:R28I	ENSP00000343364:R28I	R	-	2	0	C7orf25	42916942	0.947000	0.32204	0.684000	0.30055	0.998000	0.95712	2.142000	0.42177	0.718000	0.32166	0.561000	0.74099	AGA		0.423	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
HECW1	23072	broad.mit.edu	37	7	43519324	43519324	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:43519324G>A	ENST00000395891.2	+	17	3820	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1038Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1072					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1051Q(2)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGAGGCTCCGAAGTTACAGC	0.552																																					p.R1072Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G3215A	7						.						129.0	125.0	126.0					7																	43519324		1944	4145	6089	43485849	SO:0001583	missense	23072	exon17			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3215G>A	7.37:g.43519324G>A	ENSP00000379228:p.Arg1072Gln		43485849	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.379750|5.379750	0.95945|0.95945	.|.	.|.	ENSG00000002746|ENSG00000002746	ENST00000429529|ENST00000395891;ENST00000453890;ENST00000265522	.|D;D	.|0.85484	.|-1.99;-1.99	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.300918	.|0.36200	.|N	.|0.002729	D|D	0.91078|0.91078	0.7192|0.7192	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79108	.|0.992;0.97	D|D	0.90929|0.90929	0.4789|0.4789	5|10	.|0.59425	.|D	.|0.04	.|.	19.7543|19.7543	0.96284|0.96284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1038;1072	.|B4DH42;Q76N89	.|.;HECW1_HUMAN	K|Q	25|1072;1038;1072	.|ENSP00000379228:R1072Q;ENSP00000407774:R1038Q	.|ENSP00000265522:R1072Q	E|R	+|+	1|2	0|0	HECW1|HECW1	43485849|43485849	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.788000|0.788000	0.44548|0.44548	9.840000|9.840000	0.99478|0.99478	2.680000|2.680000	0.91292|0.91292	0.561000|0.561000	0.74099|0.74099	GAA|CGA		0.552	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
MYL7	58498	broad.mit.edu	37	7	44180602	44180602	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:44180602G>T	ENST00000223364.3	-	2	101	c.75C>A	c.(73-75)gtC>gtA	p.V25V	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_5'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	25						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)	p.V25V(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						ACATGGAAAAGACGTTGGAAG	0.607																																					p.V25V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C75A	7						.						106.0	104.0	104.0					7																	44180602		2203	4300	6503	44147127	SO:0001819	synonymous_variant	58498	exon2			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.75C>A	7.37:g.44180602G>T			44147127	NM_021223	B2R4L3	Silent	SNP	ENST00000223364.3	37	CCDS5478.1																																																																																				0.607	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223	
CAMK2B	816	broad.mit.edu	37	7	44281341	44281342	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:44281341_44281342AG>TA	ENST00000395749.2	-	11	936_937	c.860_861CT>TA	c.(859-861)aCT>aTA	p.T287I	CAMK2B_ENST00000353625.4_Missense_Mutation_p.T287I|CAMK2B_ENST00000346990.4_Missense_Mutation_p.T287I|CAMK2B_ENST00000347193.4_Missense_Mutation_p.T287I|CAMK2B_ENST00000350811.3_Missense_Mutation_p.T287I|CAMK2B_ENST00000395747.2_Missense_Mutation_p.T287I|CAMK2B_ENST00000457475.1_Missense_Mutation_p.T287I|CAMK2B_ENST00000440254.2_Missense_Mutation_p.T287I|CAMK2B_ENST00000502837.2_Missense_Mutation_p.T158I|CAMK2B_ENST00000358707.3_Missense_Mutation_p.T287I|CAMK2B_ENST00000258682.6_Missense_Mutation_p.T287I	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	287	Autoinhibitory domain. {ECO:0000250}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.T287>?(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GACACTCCACAGTCTCCTGTCT	0.599																																					.												.	.	1	Complex(1)	large_intestine(1)	c.860_861TA	7						.																																			44247867	SO:0001583	missense	816	exon11			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.860_861delinsTA	7.37:g.44281341_44281342delinsTA	ENSP00000379098:p.Thr287Ile		44247866	NM_172078	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	DNP	ENST00000395749.2	37	CCDS5483.1																																																																																				0.599	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084	
ADCY1	107	broad.mit.edu	37	7	45632459	45632459	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:45632459G>A	ENST00000297323.7	+	2	763	c.741G>A	c.(739-741)cgG>cgA	p.R247R	ADCY1_ENST00000432715.1_Silent_p.R22R	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	247					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R247R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCAGGCCCGGAGCTGCATTG	0.597																																					p.R247R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G741A	7						.						128.0	117.0	121.0					7																	45632459		2203	4300	6503	45598984	SO:0001819	synonymous_variant	107	exon2			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.741G>A	7.37:g.45632459G>A			45598984	NM_021116	A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	CCDS34631.1																																																																																				0.597	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
TNS3	64759	broad.mit.edu	37	7	47385793	47385793	+	Missense_Mutation	SNP	C	C	T	rs201649683	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:47385793C>T	ENST00000398879.1	-	18	2809	c.2443G>A	c.(2443-2445)Gtc>Atc	p.V815I	TNS3_ENST00000355730.3_Missense_Mutation_p.V575I|TNS3_ENST00000311160.9_Missense_Mutation_p.V815I			Q68CZ2	TENS3_HUMAN	tensin 3	815					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACCTCTTTGACGTCCGCTGGT	0.592													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19887	0.0		0.001	False		,,,				2504	0.0				p.V815I												.	.	0			c.G2443A	7						.	C	ILE/VAL	1,4027		0,1,2013	60.0	64.0	63.0		2443	-3.6	0.0	7		63	1,8353		0,1,4176	yes	missense	TNS3	NM_022748.11	29	0,2,6189	TT,TC,CC		0.012,0.0248,0.0162	benign	815/1446	47385793	2,12380	2014	4177	6191	47352318	SO:0001583	missense	64759	exon18			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2443G>A	7.37:g.47385793C>T	ENSP00000381854:p.Val815Ile		47352318	NM_022748	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	CCDS5506.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.671	1.146825	0.21288	2.48E-4	1.2E-4	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93366	-2.81;-2.81;-3.21;-2.89	5.33	-3.61	0.04556	.	1.527120	0.04256	N	0.339594	T	0.82107	0.4965	N	0.02539	-0.55	0.09310	N	0.999991	B	0.06786	0.001	B	0.01281	0.0	T	0.70872	-0.4754	10	0.27785	T	0.31	-1.5398	11.067	0.47980	0.0:0.226:0.0:0.774	.	815	Q68CZ2	TENS3_HUMAN	I	815;925;815;575;271;918	ENSP00000312143:V815I;ENSP00000381854:V815I;ENSP00000347968:V575I;ENSP00000414358:V918I	ENSP00000312143:V815I	V	-	1	0	TNS3	47352318	0.002000	0.14202	0.009000	0.14445	0.286000	0.27126	-0.616000	0.05591	-0.972000	0.03559	-0.126000	0.14955	GTC		0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748	
PKD1L1	168507	broad.mit.edu	37	7	47832289	47832289	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:47832289T>C	ENST00000289672.2	-	56	8512	c.8462A>G	c.(8461-8463)aAc>aGc	p.N2821S	C7orf69_ENST00000258776.4_5'Flank|C7orf69_ENST00000418326.2_5'Flank	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2821					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)	p.N2821S(1)	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						CTCCCCTGTGTTGTTGGATGT	0.408																																					p.N2821S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8462G	7						.						201.0	177.0	185.0					7																	47832289		2203	4300	6503	47798814	SO:0001583	missense	168507	exon56			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.8462A>G	7.37:g.47832289T>C	ENSP00000289672:p.Asn2821Ser		47798814	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	T	2.424	-0.332488	0.05314	.	.	ENSG00000158683	ENST00000289672	T	0.18960	2.18	4.95	-1.1	0.09872	.	4.994890	0.00947	N	0.002917	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21965	-1.0230	10	0.02654	T	1	1.0396	4.0758	0.09904	0.0:0.263:0.3478:0.3892	.	2821	Q8TDX9	PK1L1_HUMAN	S	2821	ENSP00000289672:N2821S	ENSP00000289672:N2821S	N	-	2	0	PKD1L1	47798814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.176000	0.09811	-0.071000	0.12886	-0.146000	0.13790	AAC		0.408	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
SUN3	256979	broad.mit.edu	37	7	48068419	48068419	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:48068419C>T	ENST00000297325.4	-	1	276	c.117G>A	c.(115-117)gcG>gcA	p.A39A	SUN3_ENST00000395572.2_Silent_p.A39A|SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	39						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.A39A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTACCCATTCGCATCAGGAT	0.473																																					p.A39A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G117A	7						.						205.0	181.0	189.0					7																	48068419		2203	4300	6503	48034944	SO:0001819	synonymous_variant	256979	exon2			AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.117G>A	7.37:g.48068419C>T			48034944	NM_152782	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	CCDS34636.1																																																																																				0.473	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
UPP1	7378	broad.mit.edu	37	7	48146627	48146627	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:48146627C>T	ENST00000331803.4	+	8	1217	c.594C>T	c.(592-594)agC>agT	p.S198S	UPP1_ENST00000429491.2_Silent_p.S61S|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Silent_p.S198S|UPP1_ENST00000341253.4_Silent_p.S198S			Q16831	UPP1_HUMAN	uridine phosphorylase 1	198					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)	p.S198S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	CAGAGCTGAGCGAGTTCACCA	0.552																																					p.S198S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C594T	7						.						123.0	112.0	116.0					7																	48146627		2203	4300	6503	48113152	SO:0001819	synonymous_variant	7378	exon8			AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.594C>T	7.37:g.48146627C>T			48113152	NM_181597	D3DVM4|Q15362	Silent	SNP	ENST00000331803.4	37	CCDS5507.1																																																																																				0.552	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364	
POM121L12	285877	broad.mit.edu	37	7	53104173	53104173	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:53104173C>T	ENST00000408890.4	+	1	825	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	270								p.A270V(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCTGGGAGGCGACAACGCCT	0.632																																					p.A270V												.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C809T	7						.						49.0	55.0	53.0					7																	53104173		2017	4179	6196	53071667	SO:0001583	missense	285877	exon1				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.809C>T	7.37:g.53104173C>T	ENSP00000386133:p.Ala270Val		53071667	NM_182595	Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	8.246	0.807834	0.16467	.	.	ENSG00000221900	ENST00000408890	T	0.25085	1.82	2.16	-4.31	0.03698	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.20240	-1.0281	9	0.54805	T	0.06	.	0.7833	0.01044	0.2064:0.3456:0.1383:0.3097	.	270	Q8N7R1	P1L12_HUMAN	V	270	ENSP00000386133:A270V	ENSP00000386133:A270V	A	+	2	0	POM121L12	53071667	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.654000	0.05354	-1.936000	0.01048	-1.243000	0.01532	GCG		0.632	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
EGFR	1956	broad.mit.edu	37	7	55223559	55223559	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:55223559G>A	ENST00000275493.2	+	8	1103	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	EGFR_ENST00000420316.2_Missense_Mutation_p.R309Q|EGFR_ENST00000455089.1_Missense_Mutation_p.R264Q|EGFR_ENST00000342916.3_Missense_Mutation_p.R309Q|EGFR_ENST00000454757.2_Missense_Mutation_p.R256Q|EGFR_ENST00000344576.2_Missense_Mutation_p.R309Q|EGFR_ENST00000442591.1_Missense_Mutation_p.R309Q	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	309					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.R309Q(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TCGTGCGTCCGAGCCTGTGGG	0.602		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.R309Q		yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G926A	7						.						51.0	49.0	50.0					7																	55223559		2203	4300	6503	55191053	SO:0001583	missense	1956	exon8	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.926G>A	7.37:g.55223559G>A	ENSP00000275493:p.Arg309Gln		55191053	NM_201282	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548224	0.86127	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.78104	0.4231	M	0.67517	2.055	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;0.999;0.998;0.998	P;D;P;P;P	0.71870	0.808;0.975;0.908;0.615;0.79	T	0.79174	-0.1912	10	0.66056	D	0.02	.	18.2675	0.90056	0.0:0.0:1.0:0.0	.	264;309;309;309;309	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Q	264;309;179;309;309;309;309;256;103	ENSP00000415559:R264Q;ENSP00000342376:R309Q;ENSP00000345973:R309Q;ENSP00000413843:R309Q;ENSP00000275493:R309Q;ENSP00000410031:R309Q;ENSP00000395243:R256Q	ENSP00000275493:R309Q	R	+	2	0	EGFR	55191053	1.000000	0.71417	0.959000	0.39883	0.221000	0.24807	7.970000	0.88000	2.655000	0.90218	0.655000	0.94253	CGA		0.602	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	broad.mit.edu	37	7	55224457	55224457	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:55224457C>A	ENST00000275493.2	+	10	1316	c.1139C>A	c.(1138-1140)tCc>tAc	p.S380Y	EGFR_ENST00000420316.2_Missense_Mutation_p.S380Y|EGFR_ENST00000455089.1_Missense_Mutation_p.S335Y|EGFR_ENST00000342916.3_Missense_Mutation_p.S380Y|EGFR_ENST00000454757.2_Missense_Mutation_p.S327Y|EGFR_ENST00000344576.2_Missense_Mutation_p.S380Y|EGFR_ENST00000442591.1_Missense_Mutation_p.S380Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	380					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTCAGTGACTCCTTCACACAT	0.378		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																											p.S380Y		yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	.	.	0			c.C1139A	7						.						114.0	109.0	110.0					7																	55224457		2203	4300	6503	55191951	SO:0001583	missense	1956	exon10	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1139C>A	7.37:g.55224457C>A	ENSP00000275493:p.Ser380Tyr		55191951	NM_201282	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109248	0.37242	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.81	3.93	0.45458	EGF receptor, L domain (1);	0.634786	0.17245	N	0.181382	T	0.51312	0.1667	L	0.54323	1.7	0.09310	N	1	D;P;D;D;P	0.59767	0.986;0.797;0.984;0.984;0.944	P;P;P;P;P	0.55345	0.774;0.626;0.745;0.745;0.731	T	0.44019	-0.9355	10	0.87932	D	0	.	11.5886	0.50933	0.1406:0.7241:0.1353:0.0	.	335;380;380;380;380	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	335;380;250;380;380;380;380;327;174	ENSP00000415559:S335Y;ENSP00000342376:S380Y;ENSP00000345973:S380Y;ENSP00000413843:S380Y;ENSP00000275493:S380Y;ENSP00000410031:S380Y;ENSP00000395243:S327Y	ENSP00000275493:S380Y	S	+	2	0	EGFR	55191951	0.000000	0.05858	0.975000	0.42487	0.076000	0.17211	0.458000	0.21892	0.714000	0.32081	0.655000	0.94253	TCC		0.378	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
ZNF479	90827	broad.mit.edu	37	7	57188088	57188088	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:57188088C>A	ENST00000331162.4	-	5	1304	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R345I(1)|p.R345T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTCTCTTATGTCT	0.443																																					p.R345I												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G1034T	7						.						22.0	23.0	23.0					7																	57188088		2072	4243	6315	57192030	SO:0001583	missense	90827	exon5			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1034G>T	7.37:g.57188088C>A	ENSP00000333776:p.Arg345Ile		57192030	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	6.613	0.481477	0.12581	.	.	ENSG00000185177	ENST00000331162	T	0.02446	4.29	0.946	-0.375	0.12509	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03348	0.0097	M	0.66560	2.04	0.37088	D	0.899304	B	0.27264	0.173	B	0.17098	0.017	T	0.44892	-0.9298	9	0.31617	T	0.26	.	5.3914	0.16245	0.551:0.449:0.0:0.0	.	345	Q96JC4	ZN479_HUMAN	I	345	ENSP00000333776:R345I	ENSP00000333776:R345I	R	-	2	0	ZNF479	57192030	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	-0.467000	0.06664	-1.303000	0.02332	-1.323000	0.01288	AGA		0.443	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF479	90827	broad.mit.edu	37	7	57188167	57188167	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:57188167G>T	ENST00000331162.4	-	5	1225	c.955C>A	c.(955-957)Cat>Aat	p.H319N		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H319N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTG	0.438																																					p.H319N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C955A	7						.						11.0	11.0	11.0					7																	57188167		1818	3952	5770	57192109	SO:0001583	missense	90827	exon5			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.955C>A	7.37:g.57188167G>T	ENSP00000333776:p.His319Asn		57192109	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	g	13.88	2.367609	0.42003	.	.	ENSG00000185177	ENST00000331162	T	0.67345	-0.26	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83151	0.5192	M	0.93197	3.39	0.30362	N	0.783728	D	0.61080	0.989	D	0.77557	0.99	T	0.77101	-0.2712	9	0.87932	D	0	.	7.4806	0.27402	0.0:0.0:1.0:0.0	.	319	Q96JC4	ZN479_HUMAN	N	319	ENSP00000333776:H319N	ENSP00000333776:H319N	H	-	1	0	ZNF479	57192109	1.000000	0.71417	0.009000	0.14445	0.008000	0.06430	6.517000	0.73759	0.453000	0.26858	0.456000	0.33151	CAT		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF479	90827	broad.mit.edu	37	7	57193751	57193751	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:57193751C>A	ENST00000331162.4	-	4	506	c.236G>T	c.(235-237)aGa>aTa	p.R79I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	79	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R79I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATCTCATTTCTCTTTATATT	0.403																																					p.R79I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G236T	7						.						64.0	70.0	68.0					7																	57193751		2013	4058	6071	57197693	SO:0001583	missense	90827	exon4			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.236G>T	7.37:g.57193751C>A	ENSP00000333776:p.Arg79Ile		57197693	NM_033273		Missense_Mutation	SNP	ENST00000331162.4	37	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	9.900	1.206527	0.22205	.	.	ENSG00000185177	ENST00000331162	T	0.07567	3.18	1.25	0.143	0.14820	Krueppel-associated box (1);	.	.	.	.	T	0.18087	0.0434	L	0.58510	1.815	0.09310	N	1	D	0.65815	0.995	D	0.75484	0.986	T	0.13575	-1.0504	9	0.38643	T	0.18	.	4.0537	0.09806	0.0:0.72:0.0:0.28	.	79	Q96JC4	ZN479_HUMAN	I	79	ENSP00000333776:R79I	ENSP00000333776:R79I	R	-	2	0	ZNF479	57197693	0.007000	0.16637	0.004000	0.12327	0.002000	0.02628	0.036000	0.13819	-0.285000	0.09089	-0.515000	0.04445	AGA		0.403	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
ZNF107	51427	broad.mit.edu	37	7	64168463	64168463	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:64168463A>G	ENST00000395391.1	+	4	3156	c.1781A>G	c.(1780-1782)aAc>aGc	p.N594S	ZNF107_ENST00000344930.3_Missense_Mutation_p.N594S|ZNF107_ENST00000423627.1_Missense_Mutation_p.N594S			Q9UII5	ZN107_HUMAN	zinc finger protein 107	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N594S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTATTCTCAAACATTACTAAC	0.328																																					p.N594S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1781G	7						.						43.0	50.0	48.0					7																	64168463		2199	4292	6491	63805898	SO:0001583	missense	51427	exon5			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1781A>G	7.37:g.64168463A>G	ENSP00000378789:p.Asn594Ser		63805898	NM_001013746		Missense_Mutation	SNP	ENST00000395391.1	37	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	1.378	-0.584271	0.03827	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.14640	2.49;2.49;2.49	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	N	0.21545	0.675	0.09310	N	1	B	0.21905	0.062	B	0.20767	0.031	T	0.39482	-0.9612	8	.	.	.	.	3.153	0.06494	0.723:0.0:0.277:0.0	.	594	Q9UII5	ZN107_HUMAN	S	594	ENSP00000343443:N594S;ENSP00000400037:N594S;ENSP00000378789:N594S	.	N	+	2	0	ZNF107	63805898	0.000000	0.05858	0.744000	0.31058	0.784000	0.44337	-0.875000	0.04205	0.530000	0.28619	0.260000	0.18958	AAC		0.328	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ZNF107	51427	broad.mit.edu	37	7	64168767	64168767	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:64168767A>G	ENST00000395391.1	+	4	3460	c.2085A>G	c.(2083-2085)gaA>gaG	p.E695E	ZNF107_ENST00000344930.3_Silent_p.E695E|ZNF107_ENST00000423627.1_Silent_p.E695E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	695					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E695E(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATAAATGTGAAGAATGTGGCA	0.353																																					p.E695E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2085G	7						.						31.0	33.0	32.0					7																	64168767		2192	4290	6482	63806202	SO:0001819	synonymous_variant	51427	exon5			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.2085A>G	7.37:g.64168767A>G			63806202	NM_001013746		Silent	SNP	ENST00000395391.1	37	CCDS5527.1																																																																																				0.353	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220	
ZNF138	7697	broad.mit.edu	37	7	64292367	64292367	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:64292367A>G	ENST00000359735.3	+	4	923	c.576A>G	c.(574-576)aaA>aaG	p.K192K	ZNF138_ENST00000440155.2_Silent_p.K223K|ZNF138_ENST00000437743.1_Silent_p.K217K|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000397136.2_Silent_p.K192K|ZNF138_ENST00000307355.7_Silent_p.K249K|ZNF138_ENST00000440598.1_3'UTR	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K192K(1)		kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CTGGAGAAAAACCCTATAAAT	0.368																																					p.K223K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A669G	7						.						45.0	49.0	48.0					7																	64292367		2203	4299	6502	63929802	SO:0001819	synonymous_variant	7697	exon3			U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"""Zinc fingers, C2H2-type"", ""-"""	12922	protein-coding gene	gene with protein product		604080	"""zinc finger protein 138 (clone pHZ-32)"""				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.576A>G	7.37:g.64292367A>G			63929802	NM_006524	B4DFX2|B4DP87|E9PHI7|E9PHK7	Silent	SNP	ENST00000359735.3	37																																																																																					0.368	ZNF138-201	KNOWN	basic	protein_coding	protein_coding		NM_006524	
ZNF273	10793	broad.mit.edu	37	7	64388086	64388086	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:64388086C>A	ENST00000476120.1	+	4	451	c.380C>A	c.(379-381)tCt>tAt	p.S127Y	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.S62Y	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S127Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TTAAAAGATTCTTTTCAAAAA	0.358																																					p.S127Y	Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C380A	7						.						64.0	69.0	67.0					7																	64388086		2200	4300	6500	64025521	SO:0001583	missense	10793	exon4			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.380C>A	7.37:g.64388086C>A	ENSP00000418719:p.Ser127Tyr		64025521	NM_021148	B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	3.051	-0.195448	0.06259	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.09073	3.12;3.02	0.859	-1.72	0.08107	.	.	.	.	.	T	0.09113	0.0225	M	0.66378	2.025	0.09310	N	1	B	0.20780	0.048	B	0.27170	0.077	T	0.39143	-0.9628	9	0.42905	T	0.14	.	2.406	0.04413	0.0:0.254:0.293:0.453	.	127	Q14593	ZN273_HUMAN	Y	127;62	ENSP00000418719:S127Y;ENSP00000324518:S62Y	ENSP00000324518:S62Y	S	+	2	0	ZNF273	64025521	0.005000	0.15991	0.039000	0.18376	0.038000	0.13279	0.269000	0.18589	-0.997000	0.03450	-0.987000	0.02553	TCT		0.358	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1		
GUSB	2990	broad.mit.edu	37	7	65432843	65432843	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:65432843C>T	ENST00000304895.4	-	10	1658	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	GUSB_ENST00000345660.6_Missense_Mutation_p.D459N|GUSB_ENST00000421103.1_Missense_Mutation_p.D364N	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	510					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.D510N(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGCCCGTAGTCGTGATACCAA	0.507																																					p.D510N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1528A	7						.						86.0	87.0	86.0					7																	65432843		2203	4300	6503	65070278	SO:0001583	missense	2990	exon10			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1528G>A	7.37:g.65432843C>T	ENSP00000302728:p.Asp510Asn		65070278	NM_000181	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635138	0.67130	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95307	-3.67;-3.67;-3.67	5.45	5.45	0.79879	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.94768	0.8311	L	0.57536	1.79	0.80722	D	1	D;D	0.58268	0.982;0.971	P;P	0.55303	0.721;0.773	D	0.92423	0.5947	10	0.07175	T	0.84	.	18.2566	0.90021	0.0:1.0:0.0:0.0	.	364;510	E9PCV0;P08236	.;BGLR_HUMAN	N	510;364;459	ENSP00000302728:D510N;ENSP00000391390:D364N;ENSP00000340734:D459N	ENSP00000302728:D510N	D	-	1	0	GUSB	65070278	1.000000	0.71417	0.851000	0.33527	0.898000	0.52572	7.712000	0.84684	2.550000	0.86006	0.542000	0.68232	GAC		0.507	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181	
TYW1	55253	broad.mit.edu	37	7	66548522	66548522	+	Silent	SNP	T	T	C	rs541460158		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:66548522T>C	ENST00000359626.5	+	11	1544	c.1380T>C	c.(1378-1380)ttT>ttC	p.F460F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	460					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.F460F(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTAAGCAGTTTAAAGGTATTT	0.433																																					p.F460F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1380C	7						.						83.0	79.0	80.0					7																	66548522		2203	4300	6503	66185957	SO:0001819	synonymous_variant	55253	exon11			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1380T>C	7.37:g.66548522T>C			66185957	NM_018264	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	CCDS5538.1																																																																																				0.433	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264	
AUTS2	26053	broad.mit.edu	37	7	70227972	70227972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:70227972G>T	ENST00000342771.4	+	7	1180	c.859G>T	c.(859-861)Gag>Tag	p.E287*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.E287*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	287								p.E287*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTGTTGCAAAGAGCCAATCTT	0.582																																					p.E287X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G859T	7						.						132.0	131.0	132.0					7																	70227972		2203	4300	6503	69865908	SO:0001587	stop_gained	26053	exon7			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.859G>T	7.37:g.70227972G>T	ENSP00000344087:p.Glu287*		69865908	NM_015570	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.414709|8.414709	0.98801|0.98801	.|.	.|.	ENSG00000158321|ENSG00000158321	ENST00000406775;ENST00000342771|ENST00000416482	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.160376|.	0.56097|.	D|.	0.000033|.	.|T	.|0.75354	.|0.3838	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73652	.|-0.3915	.|4	.|.	.|.	.|.	-13.9177|-13.9177	19.3067|19.3067	0.94165|0.94165	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	287|67	.|.	.|.	E|R	+|+	1|2	0|0	AUTS2|AUTS2	69865908|69865908	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.944000|0.944000	0.59088|0.59088	8.963000|8.963000	0.93385|0.93385	2.561000|2.561000	0.86390|0.86390	0.557000|0.557000	0.71058|0.71058	GAG|AGA		0.582	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		
FKBP6	8468	broad.mit.edu	37	7	72755320	72755320	+	Nonsense_Mutation	SNP	C	C	T	rs368448146		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:72755320C>T	ENST00000252037.4	+	7	901	c.832C>T	c.(832-834)Cga>Tga	p.R278*	FKBP6_ENST00000431982.2_Nonsense_Mutation_p.R273*|FKBP6_ENST00000413573.2_Nonsense_Mutation_p.R248*|RNU6-1080P_ENST00000383982.1_RNA	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	278					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R278*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTTTCTAGTTCGAGCCCAGAA	0.458																																					p.R278X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C832T	7						.						143.0	139.0	140.0					7																	72755320		1877	4111	5988	72393256	SO:0001587	stop_gained	8468	exon7			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.832C>T	7.37:g.72755320C>T	ENSP00000252037:p.Arg278*		72393256	NM_003602	B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Nonsense_Mutation	SNP	ENST00000252037.4	37	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232101	0.58777	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	.	.	.	4.79	3.9	0.45041	.	0.737333	0.12865	N	0.432795	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-2.7375	10.6614	0.45704	0.3684:0.6316:0.0:0.0	.	.	.	.	X	273;233;248;278	.	ENSP00000252037:R278X	R	+	1	2	FKBP6	72393256	0.548000	0.26473	0.747000	0.31113	0.779000	0.44077	1.078000	0.30754	0.987000	0.38709	0.563000	0.77884	CGA		0.458	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602	
BAZ1B	9031	broad.mit.edu	37	7	72857129	72857129	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:72857129C>T	ENST00000339594.4	-	18	4358	c.4020G>A	c.(4018-4020)agG>agA	p.R1340R	BAZ1B_ENST00000404251.1_Silent_p.R1340R	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1340					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)	p.R1340R(1)		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)				CCAGGCTTTGCCTCCGGGAGC	0.512																																					p.R1340R	Esophageal Squamous(112;1167 1561 21085 43672 48228)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4020A	7						.						73.0	69.0	70.0					7																	72857129		2203	4300	6503	72495065	SO:0001819	synonymous_variant	9031	exon18			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.4020G>A	7.37:g.72857129C>T			72495065	NM_032408	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.512	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
BAZ1B	9031	broad.mit.edu	37	7	72903573	72903573	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:72903573T>G	ENST00000339594.4	-	6	1180	c.842A>C	c.(841-843)aAa>aCa	p.K281T	BAZ1B_ENST00000404251.1_Missense_Mutation_p.K281T	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	281	Mediates the tyrosine-protein kinase activity.				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)	p.K281T(1)		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)				CAGAGAGTATTTCTTCACCAA	0.393																																					p.K281T	Esophageal Squamous(112;1167 1561 21085 43672 48228)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A842C	7						.						141.0	126.0	131.0					7																	72903573		2203	4300	6503	72541509	SO:0001583	missense	9031	exon6			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.842A>C	7.37:g.72903573T>G	ENSP00000342434:p.Lys281Thr		72541509	NM_032408	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640087	0.87760	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.62105	0.05;0.05	5.88	5.88	0.94601	.	0.046798	0.85682	D	0.000000	T	0.64148	0.2572	L	0.34521	1.04	0.58432	D	0.999995	D	0.59767	0.986	P	0.53266	0.722	T	0.67933	-0.5542	10	0.72032	D	0.01	-26.0814	15.4769	0.75489	0.0:0.0:0.0:1.0	.	281	Q9UIG0	BAZ1B_HUMAN	T	281	ENSP00000342434:K281T;ENSP00000385442:K281T	ENSP00000342434:K281T	K	-	2	0	BAZ1B	72541509	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	5.732000	0.68563	2.252000	0.74401	0.533000	0.62120	AAA		0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
HIP1	3092	broad.mit.edu	37	7	75186992	75186992	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:75186992G>A	ENST00000336926.6	-	16	1573	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	HIP1_ENST00000434438.2_Missense_Mutation_p.S516L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	516					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.S516L(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCGCTCCAACGAATCCTCCAG	0.557			T	PDGFRB	CMML																																p.S516L			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1547T	7						.						165.0	160.0	162.0					7																	75186992		2203	4300	6503	75024928	SO:0001583	missense	3092	exon16			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1547C>T	7.37:g.75186992G>A	ENSP00000336747:p.Ser516Leu		75024928	NM_005338	B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489817	0.26686	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14144	2.75;2.53	4.75	4.75	0.60458	.	0.290732	0.39146	N	0.001454	T	0.15349	0.0370	M	0.65975	2.015	0.37400	D	0.912819	P;P	0.42584	0.784;0.66	B;B	0.31869	0.137;0.089	T	0.20840	-1.0263	10	0.34782	T	0.22	-11.4708	16.7735	0.85545	0.0:0.0:1.0:0.0	.	516;516	E7ES17;O00291	.;HIP1_HUMAN	L	516	ENSP00000336747:S516L;ENSP00000410300:S516L	ENSP00000336747:S516L	S	-	2	0	HIP1	75024928	1.000000	0.71417	0.900000	0.35374	0.103000	0.19146	4.000000	0.57039	2.182000	0.69389	0.585000	0.79938	TCG		0.557	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	
DTX2	113878	broad.mit.edu	37	7	76109987	76109987	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:76109987T>A	ENST00000324432.5	+	4	671	c.161T>A	c.(160-162)tTt>tAt	p.F54Y	DTX2_ENST00000446820.2_Missense_Mutation_p.F54Y|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000430490.2_Missense_Mutation_p.F54Y|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000307569.8_Missense_Mutation_p.F54Y|DTX2_ENST00000413936.2_Missense_Mutation_p.F54Y|AC007078.4_ENST00000479299.2_RNA	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	54	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GGCCAACGTTTTGGGCTTGGG	0.637																																					p.F54Y												.	.	0			c.T161A	7						.						28.0	28.0	28.0					7																	76109987		2203	4298	6501	75947923	SO:0001583	missense	113878	exon2				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.161T>A	7.37:g.76109987T>A	ENSP00000322885:p.Phe54Tyr		75947923	NM_001102595	Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	8.366	0.834149	0.16820	.	.	ENSG00000091073	ENST00000425780;ENST00000324432;ENST00000307569;ENST00000457529;ENST00000413936;ENST00000423646;ENST00000438930;ENST00000430490;ENST00000423250;ENST00000429179;ENST00000435861;ENST00000446820	T;T;T;T;T;T;T	0.43294	2.8;2.79;2.8;0.96;2.8;0.95;2.79	5.15	2.6	0.31112	WWE domain (2);WWE domain, subgroup (1);	0.363980	0.25500	N	0.030256	T	0.39145	0.1067	L	0.44542	1.39	0.09310	N	1	D;D	0.65815	0.959;0.995	P;P	0.61070	0.583;0.883	T	0.38112	-0.9676	10	0.02654	T	1	-19.9682	3.7312	0.08493	0.3372:0.0937:0.0:0.5692	.	54;54	Q86UW9-2;Q86UW9	.;DTX2_HUMAN	Y	54	ENSP00000322885:F54Y;ENSP00000305242:F54Y;ENSP00000390218:F54Y;ENSP00000415838:F54Y;ENSP00000411986:F54Y;ENSP00000403342:F54Y;ENSP00000392545:F54Y	ENSP00000305242:F54Y	F	+	2	0	AC005522.1	75947923	0.982000	0.34865	0.621000	0.29145	0.023000	0.10783	1.992000	0.40737	0.961000	0.38030	0.460000	0.39030	TTT		0.637	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
GSAP	54103	broad.mit.edu	37	7	77010631	77010631	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:77010631T>C	ENST00000257626.7	-	8	645	c.567A>G	c.(565-567)ggA>ggG	p.G189G		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	189					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.G189G(1)									CCACTCTATTTCCATCTTCTT	0.284																																					p.G189G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A567G	7						.						80.0	75.0	77.0					7																	77010631		1805	4069	5874	76848567	SO:0001819	synonymous_variant	54103	exon8				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.567A>G	7.37:g.77010631T>C			76848567	NM_017439	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	CCDS34672.2																																																																																				0.284	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439	
PTPN12	5782	broad.mit.edu	37	7	77268548	77268548	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:77268548G>A	ENST00000248594.6	+	18	2566	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q	PTPN12_ENST00000415482.2_Missense_Mutation_p.R646Q|PTPN12_ENST00000435495.2_Missense_Mutation_p.R635Q	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	765					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.R765Q(2)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTTGGTAATCGATGTGGAAAA	0.388																																					p.R635Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1904A	7						.						141.0	138.0	139.0					7																	77268548		2203	4300	6503	77106484	SO:0001583	missense	5782	exon17				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.2294G>A	7.37:g.77268548G>A	ENSP00000248594:p.Arg765Gln		77106484	NM_001131009	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850011	0.71603	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000435495	T;T;T	0.23950	2.44;1.89;1.88	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	M	0.73962	2.25	0.40187	D	0.977363	D	0.89917	1.0	D	0.79108	0.992	T	0.54866	-0.8229	10	0.87932	D	0	.	14.0096	0.64488	0.0:0.0:0.8487:0.1513	.	765	Q05209	PTN12_HUMAN	Q	765;646;635	ENSP00000248594:R765Q;ENSP00000392429:R646Q;ENSP00000397991:R635Q	ENSP00000248594:R765Q	R	+	2	0	PTPN12	77106484	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.548000	0.67255	2.590000	0.87494	0.579000	0.79373	CGA		0.388	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
MAGI2	9863	broad.mit.edu	37	7	77973134	77973134	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:77973134G>A	ENST00000354212.4	-	9	1622	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S	MAGI2_ENST00000535697.1_Missense_Mutation_p.P294S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P457S|MAGI2_ENST00000536571.1_Missense_Mutation_p.P289S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P457S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	457	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.P457S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGCCCATCCGGAATCACACTT	0.428																																					p.P457S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1369T	7						.						109.0	99.0	102.0					7																	77973134		2203	4300	6503	77811070	SO:0001583	missense	9863	exon9			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1369C>T	7.37:g.77973134G>A	ENSP00000346151:p.Pro457Ser		77811070	NM_012301	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182163	0.57800	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.81	5.81	0.92471	PDZ/DHR/GLGF (4);	0.000000	0.36444	U	0.002586	T	0.48519	0.1504	L	0.41906	1.305	0.80722	D	1	B;P;D;D;B;D	0.89917	0.074;0.482;1.0;1.0;0.074;1.0	B;B;D;D;B;D	0.91635	0.088;0.283;0.999;0.999;0.215;0.999	T	0.15838	-1.0423	10	0.31617	T	0.26	.	19.0794	0.93175	0.0:0.0:1.0:0.0	.	294;289;457;457;457;457	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	S	457;457;457;457;289;294	ENSP00000405766:P457S;ENSP00000346151:P457S;ENSP00000428389:P457S;ENSP00000441584:P289S;ENSP00000441603:P294S	ENSP00000346151:P457S	P	-	1	0	MAGI2	77811070	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.869000	0.99810	2.746000	0.94184	0.591000	0.81541	CCG		0.428	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
CACNA2D1	781	broad.mit.edu	37	7	81589142	81589142	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:81589142G>T	ENST00000356253.5	-	37	3261	c.3006C>A	c.(3004-3006)atC>atA	p.I1002I	CACNA2D1_ENST00000535308.1_Silent_p.I202I|CACNA2D1_ENST00000356860.3_Silent_p.I990I			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1002					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I990I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCCATGAAAGATTCTGCAAA	0.323																																					p.I990I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2970A	7						.						64.0	59.0	61.0					7																	81589142		2203	4300	6503	81427078	SO:0001819	synonymous_variant	781	exon37			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3006C>A	7.37:g.81589142G>T			81427078	NM_000722	Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37																																																																																					0.323	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
PCLO	27445	broad.mit.edu	37	7	82388020	82388020	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:82388020G>T	ENST00000333891.9	-	25	15637	c.15300C>A	c.(15298-15300)ttC>ttA	p.F5100L		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.F5100L(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCCATTGGAGAAAAGTAAAA	0.308																																					p.F5100L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C15300A	7						.						78.0	72.0	74.0					7																	82388020		1790	4066	5856	82225956	SO:0001583	missense	27445	exon25			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15300C>A	7.37:g.82388020G>T	ENSP00000334319:p.Phe5100Leu		82225956	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901560	0.33535	.	.	ENSG00000186472	ENST00000333891	T	0.69435	-0.4	5.47	3.64	0.41730	.	0.188374	0.19773	U	0.106385	T	0.38374	0.1038	N	0.03608	-0.345	0.80722	D	1	B	0.28850	0.225	B	0.23574	0.047	T	0.27297	-1.0078	10	0.87932	D	0	.	5.4856	0.16747	0.2398:0.1441:0.6161:0.0	.	5100	Q9Y6V0-5	.	L	5100	ENSP00000334319:F5100L	ENSP00000334319:F5100L	F	-	3	2	PCLO	82225956	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.916000	0.39986	0.663000	0.31027	0.585000	0.79938	TTC		0.308	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82389990	82389990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:82389990G>A	ENST00000333891.9	-	24	15590	c.15253C>T	c.(15253-15255)Cga>Tga	p.R5085*		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R5085*(4)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGACTGAATCGAAAAGTTTCA	0.323																																					p.R5085X												.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C15253T	7						.						134.0	132.0	132.0					7																	82389990		1827	4069	5896	82227926	SO:0001587	stop_gained	27445	exon24			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15253C>T	7.37:g.82389990G>A	ENSP00000334319:p.Arg5085*		82227926	NM_033026		Nonsense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	56	26.706062	0.99969	.	.	ENSG00000186472	ENST00000333891	.	.	.	5.25	2.84	0.33178	.	0.000000	0.42821	U	0.000656	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.2602	0.54647	0.0:0.0:0.4373:0.5627	.	.	.	.	X	5085	.	ENSP00000334319:R5085X	R	-	1	2	PCLO	82227926	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	2.265000	0.43311	0.301000	0.22738	-0.485000	0.04761	CGA		0.323	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82595553	82595553	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:82595553T>G	ENST00000333891.9	-	4	3888	c.3551A>C	c.(3550-3552)aAa>aCa	p.K1184T	PCLO_ENST00000423517.2_Missense_Mutation_p.K1184T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.K1184T(2)|p.K1123T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGAGGAATTTTTTCCATTGA	0.358																																					p.K1184T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A3551C	7						.						131.0	122.0	125.0					7																	82595553		1817	4079	5896	82433489	SO:0001583	missense	27445	exon4			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3551A>C	7.37:g.82595553T>G	ENSP00000334319:p.Lys1184Thr		82433489	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	4.454	0.084017	0.08583	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18174	2.23;2.23	6.06	3.65	0.41850	.	.	.	.	.	T	0.12987	0.0315	L	0.32530	0.975	0.49582	D	0.999807	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.05566	-1.0877	9	0.87932	D	0	.	7.7055	0.28648	0.2441:0.0:0.1278:0.6281	.	1184;1184	Q9Y6V0-5;Q9Y6V0-6	.;.	T	1123;1184;1184	ENSP00000334319:K1184T;ENSP00000388393:K1184T	ENSP00000334319:K1184T	K	-	2	0	PCLO	82433489	0.921000	0.31238	0.092000	0.20876	0.009000	0.06853	1.355000	0.34068	0.497000	0.27926	0.533000	0.62120	AAA		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82763624	82763624	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:82763624T>G	ENST00000333891.9	-	3	3579	c.3242A>C	c.(3241-3243)gAa>gCa	p.E1081A	PCLO_ENST00000423517.2_Missense_Mutation_p.E1081A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1081A(2)|p.E1027A(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTCTTGCATTCAGTGCAAGT	0.358																																					p.E1081A												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A3242C	7						.						47.0	43.0	44.0					7																	82763624		1852	4094	5946	82601560	SO:0001583	missense	27445	exon3			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3242A>C	7.37:g.82763624T>G	ENSP00000334319:p.Glu1081Ala		82601560	NM_033026		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.834952	0.32421	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.75704	-0.96;-0.96	5.98	5.98	0.97165	.	.	.	.	.	D	0.83723	0.5316	M	0.76002	2.32	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.57502	0.822;0.822	D	0.85817	0.1383	9	0.87932	D	0	.	16.4578	0.84025	0.0:0.0:0.0:1.0	.	1081;1081	Q9Y6V0-5;Q9Y6V0-6	.;.	A	1027;1081;1081	ENSP00000334319:E1081A;ENSP00000388393:E1081A	ENSP00000334319:E1081A	E	-	2	0	PCLO	82601560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.139000	0.64801	2.288000	0.76882	0.482000	0.46254	GAA		0.358	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3E	9723	broad.mit.edu	37	7	83025989	83025989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:83025989C>A	ENST00000307792.3	-	12	1890	c.1423G>T	c.(1423-1425)Gaa>Taa	p.E475*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.E415*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	475	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.E475*(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATTACTTCTTCCATTGATTCC	0.289																																					p.E475X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1423T	7						.						126.0	113.0	118.0					7																	83025989		2200	4298	6498	82863925	SO:0001587	stop_gained	9723	exon12			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1423G>T	7.37:g.83025989C>A	ENSP00000303212:p.Glu475*		82863925	NM_012431	B4E1P1|Q75M94|Q75M97	Nonsense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	39	7.670879	0.98425	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1358	0.98028	0.0:1.0:0.0:0.0	.	.	.	.	X	475;415;475	.	ENSP00000303212:E475X	E	-	1	0	SEMA3E	82863925	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.735000	0.84939	2.833000	0.97629	0.585000	0.79938	GAA		0.289	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
SEMA3A	10371	broad.mit.edu	37	7	83764117	83764117	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:83764117A>C	ENST00000265362.4	-	2	577	c.263T>G	c.(262-264)tTt>tGt	p.F88C	SEMA3A_ENST00000436949.1_Missense_Mutation_p.F88C	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	88	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.F88C(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TACCTTTTGAAAATCCTTGAT	0.338																																					p.F88C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T263G	7						.						74.0	75.0	75.0					7																	83764117		2203	4300	6503	83602053	SO:0001583	missense	10371	exon2			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.263T>G	7.37:g.83764117A>C	ENSP00000265362:p.Phe88Cys		83602053	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	a	14.02	2.411363	0.42817	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.10860	2.83;2.83;2.83	4.79	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.650088	0.17291	N	0.179645	T	0.15565	0.0375	L	0.50333	1.59	0.36295	D	0.856672	P	0.42908	0.793	P	0.48400	0.576	T	0.09250	-1.0683	10	0.40728	T	0.16	.	9.8121	0.40828	0.5207:0.0:0.0:0.4793	.	88	Q14563	SEM3A_HUMAN	C	88	ENSP00000265362:F88C;ENSP00000415260:F88C;ENSP00000391900:F88C	ENSP00000265362:F88C	F	-	2	0	SEMA3A	83602053	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.211000	0.32382	0.213000	0.20722	0.383000	0.25322	TTT		0.338	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
SEMA3A	10371	broad.mit.edu	37	7	83823854	83823854	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:83823854T>C	ENST00000265362.4	-	1	363	c.49A>G	c.(49-51)Aca>Gca	p.T17A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T17A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	17					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.T17A(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GCTCTTGCTGTAAGTAATACT	0.398																																					p.T17A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A49G	7						.						190.0	187.0	188.0					7																	83823854		2203	4300	6503	83661790	SO:0001583	missense	10371	exon1			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.49A>G	7.37:g.83823854T>C	ENSP00000265362:p.Thr17Ala		83661790	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	T	4.476	0.088254	0.08583	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047;ENST00000448879;ENST00000424555	T;T;T	0.29397	1.7;1.7;1.57	5.43	-3.31	0.04988	.	0.455027	0.26387	N	0.024669	T	0.07683	0.0193	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28776	-1.0033	10	0.16420	T	0.52	.	4.7674	0.13139	0.2676:0.4277:0.0:0.3046	.	17	Q14563	SEM3A_HUMAN	A	17	ENSP00000265362:T17A;ENSP00000415260:T17A;ENSP00000391900:T17A	ENSP00000265362:T17A	T	-	1	0	SEMA3A	83661790	0.217000	0.23597	0.254000	0.24359	0.993000	0.82548	0.122000	0.15687	-0.518000	0.06452	-0.280000	0.10049	ACA		0.398	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
SEMA3D	223117	broad.mit.edu	37	7	84642104	84642104	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:84642104C>T	ENST00000284136.6	-	15	1805	c.1762G>A	c.(1762-1764)Gaa>Aaa	p.E588K	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	588					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.E588K(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTACTGTCTTCGATGTCCCAG	0.383																																					p.E588K	Ovarian(63;442 1191 17318 29975 31528)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1762A	7						.						131.0	122.0	125.0					7																	84642104		2203	4300	6503	84480040	SO:0001583	missense	223117	exon15			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1762G>A	7.37:g.84642104C>T	ENSP00000284136:p.Glu588Lys		84480040	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491008	0.64074	.	.	ENSG00000153993	ENST00000284136	T	0.30182	1.54	5.93	5.93	0.95920	.	0.052318	0.85682	D	0.000000	T	0.20618	0.0496	N	0.14661	0.345	0.80722	D	1	P	0.38395	0.629	B	0.29663	0.105	T	0.04579	-1.0941	10	0.54805	T	0.06	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	588	O95025	SEM3D_HUMAN	K	588	ENSP00000284136:E588K	ENSP00000284136:E588K	E	-	1	0	SEMA3D	84480040	1.000000	0.71417	0.996000	0.52242	0.872000	0.50106	3.929000	0.56514	2.808000	0.96608	0.655000	0.94253	GAA		0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
GRM3	2913	broad.mit.edu	37	7	86468840	86468840	+	Silent	SNP	C	C	T	rs201022940		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:86468840C>T	ENST00000361669.2	+	4	3109	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F	GRM3_ENST00000536043.1_Silent_p.F542F|GRM3_ENST00000546348.1_Silent_p.F262F|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	670					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.F670F(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CCCGCATCTTCGATGGGGTCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		20676	0.0		0.001	False		,,,				2504	0.0				p.F670F	GBM(52;969 1098 3139 52280)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2010T	7						.	C		0,4406		0,0,2203	103.0	97.0	99.0		2010	-3.1	1.0	7		99	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRM3	NM_000840.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		670/880	86468840	2,13004	2203	4300	6503	86306776	SO:0001819	synonymous_variant	2913	exon4				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2010C>T	7.37:g.86468840C>T			86306776	NM_000840	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	CCDS5600.1																																																																																				0.537	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2		
RUNDC3B	154661	broad.mit.edu	37	7	87407141	87407141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:87407141C>T	ENST00000338056.3	+	9	1288	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RUNDC3B_ENST00000493037.1_Nonsense_Mutation_p.R276*|RUNDC3B_ENST00000394654.3_Nonsense_Mutation_p.R276*	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	293								p.R293*(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTTACGACTTCGAGAGAACCA	0.363																																					p.R276X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C826T	7						.						60.0	60.0	60.0					7																	87407141		2203	4300	6503	87245077	SO:0001587	stop_gained	154661	exon8				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.877C>T	7.37:g.87407141C>T	ENSP00000337732:p.Arg293*		87245077	NM_001134405	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Nonsense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	40	8.368325	0.98779	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1015	12.0402	0.53448	0.294:0.706:0.0:0.0	.	.	.	.	X	293;276;276	.	ENSP00000337732:R293X	R	+	1	2	RUNDC3B	87245077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.517000	0.45529	2.431000	0.82371	0.561000	0.74099	CGA		0.363	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290	
RUNDC3B	154661	broad.mit.edu	37	7	87436810	87436810	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:87436810G>A	ENST00000338056.3	+	10	1541	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	RUNDC3B_ENST00000493037.1_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.R360Q	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	377								p.R377Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTGCTTTACCGAAAACACAAT	0.388																																					p.R360Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1079A	7						.						136.0	119.0	125.0					7																	87436810		2203	4300	6503	87274746	SO:0001583	missense	154661	exon9				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1130G>A	7.37:g.87436810G>A	ENSP00000337732:p.Arg377Gln		87274746	NM_001134405	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923696	0.92319	.	.	ENSG00000105784	ENST00000338056;ENST00000394654	T;T	0.58358	0.34;0.34	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.59436	1.845	0.53688	D	0.999977	B;B;P	0.52463	0.231;0.123;0.953	B;B;P	0.47786	0.019;0.008;0.557	T	0.49000	-0.8984	10	0.26408	T	0.33	-7.4989	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	360;360;377	E9PBR4;B4DFD0;Q96NL0	.;.;RUN3B_HUMAN	Q	377;360	ENSP00000337732:R377Q;ENSP00000378149:R360Q	ENSP00000337732:R377Q	R	+	2	0	RUNDC3B	87274746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.415000	0.73328	2.941000	0.99782	0.655000	0.94253	CGA		0.388	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290	
SLC25A40	55972	broad.mit.edu	37	7	87479241	87479241	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:87479241C>T	ENST00000341119.5	-	6	633	c.287G>A	c.(286-288)cGa>cAa	p.R96Q		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	96					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R96Q(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					GCCCTCATTTCGAATGATTTT	0.254																																					p.R96Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G287A	7						.						37.0	40.0	39.0					7																	87479241		2195	4290	6485	87317177	SO:0001583	missense	55972	exon6			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.287G>A	7.37:g.87479241C>T	ENSP00000344831:p.Arg96Gln		87317177	NM_018843	A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	ENST00000341119.5	37	CCDS5610.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580854	0.86748	.	.	ENSG00000075303	ENST00000341119	T	0.79749	-1.3	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.059238	0.64402	D	0.000002	T	0.79021	0.4376	L	0.50993	1.605	0.58432	D	0.999991	P	0.43788	0.817	P	0.45681	0.49	T	0.79027	-0.1971	10	0.45353	T	0.12	-21.1372	12.2737	0.54721	0.0:0.8784:0.0:0.1216	.	96	Q8TBP6	S2540_HUMAN	Q	96	ENSP00000344831:R96Q	ENSP00000344831:R96Q	R	-	2	0	SLC25A40	87317177	0.849000	0.29639	1.000000	0.80357	0.990000	0.78478	1.213000	0.32407	2.588000	0.87417	0.655000	0.94253	CGA		0.254	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843	
ADAM22	53616	broad.mit.edu	37	7	87762257	87762257	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:87762257C>T	ENST00000265727.7	+	12	1147	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G	ADAM22_ENST00000398204.4_Silent_p.G356G|ADAM22_ENST00000315984.7_Silent_p.G356G|ADAM22_ENST00000398201.4_Silent_p.G356G|ADAM22_ENST00000398209.3_Silent_p.G356G			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G356G(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAGGAGGAGGCGTGAATGAAG	0.403																																					p.G356G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1068T	7						.						192.0	204.0	200.0					7																	87762257		2102	4244	6346	87600193	SO:0001819	synonymous_variant	53616	exon12			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1068C>T	7.37:g.87762257C>T			87600193	NM_021722	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Silent	SNP	ENST00000265727.7	37	CCDS47637.1																																																																																				0.403	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
ADAM22	53616	broad.mit.edu	37	7	87765309	87765309	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:87765309G>A	ENST00000265727.7	+	14	1262	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	ADAM22_ENST00000398204.4_Missense_Mutation_p.E395K|ADAM22_ENST00000315984.7_Missense_Mutation_p.E395K|ADAM22_ENST00000398201.4_Missense_Mutation_p.E395K|ADAM22_ENST00000398209.3_Missense_Mutation_p.E395K			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	395	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E395K(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGTAAATGCGAGGACACGTG	0.383																																					p.E395K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1183A	7						.						185.0	175.0	178.0					7																	87765309		1898	4115	6013	87603245	SO:0001583	missense	53616	exon14			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1183G>A	7.37:g.87765309G>A	ENSP00000265727:p.Glu395Lys		87603245	NM_021722	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145191	0.57044	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	4.83	4.83	0.62350	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.163735	0.53938	D	0.000057	T	0.11922	0.0290	N	0.22421	0.69	0.80722	D	1	B;B;B;P	0.38863	0.322;0.077;0.095;0.65	B;B;B;B	0.35770	0.186;0.033;0.089;0.21	T	0.12041	-1.0563	10	0.10377	T	0.69	.	18.1153	0.89552	0.0:0.0:1.0:0.0	.	447;395;395;395	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	K	395;395;395;395;395;362	ENSP00000381262:E395K;ENSP00000381260:E395K;ENSP00000265727:E395K;ENSP00000315900:E395K;ENSP00000381267:E395K;ENSP00000381261:E362K	ENSP00000265727:E395K	E	+	1	0	ADAM22	87603245	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.786000	0.75094	2.516000	0.84829	0.467000	0.42956	GAG		0.383	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
STEAP4	79689	broad.mit.edu	37	7	87911999	87911999	+	Missense_Mutation	SNP	C	C	T	rs368689133		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:87911999C>T	ENST00000380079.4	-	3	1042	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.R314Q|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	314	Ferric oxidoreductase.				copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.R314Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TACATAATATCGAATAGGAAT	0.428																																					p.R314Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G941A	7						.						66.0	63.0	64.0					7																	87911999		1927	4139	6066	87749935	SO:0001583	missense	79689	exon3			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.941G>A	7.37:g.87911999C>T	ENSP00000369419:p.Arg314Gln		87749935	NM_024636	Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528660	0.96446	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	D;D	0.91351	-2.83;-2.83	6.08	6.08	0.98989	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.96144	0.8743	M	0.84683	2.71	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95714	0.8760	10	0.72032	D	0.01	-6.6414	20.6721	0.99693	0.0:1.0:0.0:0.0	.	314;314	C9JS50;Q687X5	.;STEA4_HUMAN	Q	314	ENSP00000369419:R314Q;ENSP00000394399:R314Q	ENSP00000369419:R314Q	R	-	2	0	STEAP4	87749935	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	7.786000	0.85741	2.894000	0.99253	0.591000	0.81541	CGA		0.428	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636	
C7orf62	219557	broad.mit.edu	37	7	88423926	88423926	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:88423926G>T	ENST00000297203.2	-	2	516	c.331C>A	c.(331-333)Ctt>Att	p.L111I	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	111								p.L111I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAATCTAAAAGAACTTTGTAG	0.368																																					p.L111I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C331A	7						.						56.0	57.0	57.0					7																	88423926		2203	4300	6503	88261862	SO:0001583	missense	219557	exon2			BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.331C>A	7.37:g.88423926G>T	ENSP00000297203:p.Leu111Ile		88261862	NM_152706		Missense_Mutation	SNP	ENST00000297203.2	37	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555702	0.27827	.	.	ENSG00000164645	ENST00000297203	T	0.26373	1.74	6.06	5.18	0.71444	.	0.068796	0.64402	D	0.000016	T	0.24661	0.0598	L	0.50333	1.59	0.27126	N	0.962008	P	0.37573	0.6	B	0.35510	0.204	T	0.14559	-1.0468	10	0.46703	T	0.11	-2.54	12.7284	0.57185	0.0:0.0:0.8355:0.1645	.	111	Q8TBZ9	CG062_HUMAN	I	111	ENSP00000297203:L111I	ENSP00000297203:L111I	L	-	1	0	C7orf62	88261862	1.000000	0.71417	0.168000	0.22838	0.001000	0.01503	4.724000	0.61972	1.555000	0.49500	-0.188000	0.12872	CTT		0.368	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706	
CLDN12	9069	broad.mit.edu	37	7	90042044	90042044	+	Silent	SNP	C	C	T	rs374340236		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:90042044C>T	ENST00000287916.4	+	3	341	c.54C>T	c.(52-54)atC>atT	p.I18I	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Silent_p.I18I|CLDN12_ENST00000535571.1_Silent_p.I18I	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	18					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.I18I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TGTGTGGAATCGCCTCAGTAG	0.517																																					p.I18I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C54T	7						.	C	,,	2,4404	4.2+/-10.8	0,2,2201	99.0	88.0	92.0		54,54,54	-3.3	1.0	7		92	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CLDN12	NM_001185072.2,NM_001185073.2,NM_012129.4	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	18/245,18/245,18/245	90042044	2,13004	2203	4300	6503	89879980	SO:0001819	synonymous_variant	9069	exon3			AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.54C>T	7.37:g.90042044C>T			89879980	NM_012129	D6W5Q4|Q7LDZ0	Silent	SNP	ENST00000287916.4	37	CCDS5618.1																																																																																				0.517	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129	
CDK14	5218	broad.mit.edu	37	7	90585056	90585056	+	Missense_Mutation	SNP	G	G	A	rs144455762		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:90585056G>A	ENST00000380050.3	+	9	1002	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	CDK14_ENST00000406263.1_Missense_Mutation_p.E245K|CDK14_ENST00000265741.3_Missense_Mutation_p.E273K|CDK14_ENST00000436577.2_Missense_Mutation_p.E162K			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	291	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E273K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATACTCCAACGAAGTGGTTAC	0.433																																					p.E273K	GBM(83;1228 1256 8311 16577 31299)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817A	7						.	G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	189.0	163.0	172.0		817	6.1	1.0	7	dbSNP_134	172	0,8600		0,0,4300	no	missense	CDK14	NM_012395.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	273/452	90585056	1,13005	2203	4300	6503	90422992	SO:0001583	missense	5218	exon8				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.871G>A	7.37:g.90585056G>A	ENSP00000369390:p.Glu291Lys		90422992	NM_012395	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37		.	.	.	.	.	.	.	.	.	.	G	26.8	4.773066	0.90108	2.27E-4	0.0	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	L	0.43701	1.375	0.80722	D	1	D;D;D	0.65815	0.987;0.989;0.995	D;P;D	0.70935	0.926;0.711;0.971	T	0.58601	-0.7608	10	0.87932	D	0	-21.9991	20.6721	0.99693	0.0:0.0:1.0:0.0	.	162;273;291	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	K	291;273;245;162	ENSP00000369390:E291K;ENSP00000265741:E273K;ENSP00000385034:E245K;ENSP00000398936:E162K	ENSP00000265741:E273K	E	+	1	0	CDK14	90422992	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	GAA		0.433	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395	
FZD1	8321	broad.mit.edu	37	7	90895350	90895350	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:90895350C>T	ENST00000287934.2	+	1	1568	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	385					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F385F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			ATGACAAGTTCGCCGAGGACG	0.602																																					p.F385F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1155T	7						.						89.0	86.0	87.0					7																	90895350		2203	4300	6503	90733286	SO:0001819	synonymous_variant	8321	exon1			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1155C>T	7.37:g.90895350C>T			90733286	NM_003505	A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	CCDS5620.1																																																																																				0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505	
AKAP9	10142	broad.mit.edu	37	7	91630312	91630312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:91630312G>T	ENST00000359028.2	+	9	1342	c.1117G>T	c.(1117-1119)Gaa>Taa	p.E373*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E361*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E373*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	373	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E373*(1)|p.E361*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			attactaggagaattacaaga	0.289			T	BRAF	papillary thyroid																																p.E361X			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G1081T	7						.						23.0	23.0	23.0					7																	91630312		2167	4203	6370	91468248	SO:0001587	stop_gained	10142	exon8			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1117G>T	7.37:g.91630312G>T	ENSP00000351922:p.Glu373*		91468248	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	37	6.147595	0.97324	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.41	4.53	0.55603	.	0.553928	0.15071	N	0.282203	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	16.6976	0.85340	0.0:0.1294:0.8706:0.0	.	.	.	.	X	361;373;373;373;373	.	ENSP00000348573:E361X	E	+	1	0	AKAP9	91468248	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	6.880000	0.75578	1.379000	0.46325	0.650000	0.86243	GAA		0.289	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AKAP9	10142	broad.mit.edu	37	7	91641773	91641773	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:91641773C>T	ENST00000359028.2	+	10	3610	c.3385C>T	c.(3385-3387)Cgc>Tgc	p.R1129C	AKAP9_ENST00000356239.3_Missense_Mutation_p.R1117C|AKAP9_ENST00000358100.2_Missense_Mutation_p.R1129C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1129					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R1129C(1)|p.R1117C(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGAAGCCCAACGCATTTGCCT	0.303			T	BRAF	papillary thyroid																																p.R1117C			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3349T	7						.						66.0	68.0	67.0					7																	91641773		2203	4300	6503	91479709	SO:0001583	missense	10142	exon9			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3385C>T	7.37:g.91641773C>T	ENSP00000351922:p.Arg1129Cys		91479709	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	18.97	3.736817	0.69304	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.06768	3.28;3.28;3.26	5.39	5.39	0.77823	.	0.000000	0.37577	N	0.002030	T	0.30885	0.0779	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.988;0.995;0.995;0.995	T	0.01192	-1.1423	10	0.87932	D	0	.	19.5147	0.95159	0.0:1.0:0.0:0.0	.	1129;1117;1117;1129	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	C	1117;1129;1129;1129;1129	ENSP00000348573:R1117C;ENSP00000351922:R1129C;ENSP00000350813:R1129C	ENSP00000348573:R1117C	R	+	1	0	AKAP9	91479709	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	6.761000	0.74945	2.660000	0.90430	0.655000	0.94253	CGC		0.303	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
AKAP9	10142	broad.mit.edu	37	7	91726522	91726522	+	Missense_Mutation	SNP	C	C	T	rs146495719		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:91726522C>T	ENST00000359028.2	+	41	10486	c.10261C>T	c.(10261-10263)Cgc>Tgc	p.R3421C	AKAP9_ENST00000356239.3_Missense_Mutation_p.R3417C|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3367C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3421					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.R3421C(1)|p.R3417C(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATCTTCAGCGCCAGCTGGA	0.458			T	BRAF	papillary thyroid								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18719	0.0		0.0	False		,,,				2504	0.0				p.R3409C			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C10225T	7						.	C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	39.0	42.0	41.0		10249,10225	3.6	1.0	7	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense	AKAP9	NM_005751.4,NM_147185.2	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	3417/3908,3409/3900	91726522	2,13004	2203	4300	6503	91564458	SO:0001583	missense	10142	exon41			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10261C>T	7.37:g.91726522C>T	ENSP00000351922:p.Arg3421Cys		91564458	NM_147185	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.27	2.785108	0.49997	4.54E-4	0.0	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03689	3.93;3.93;3.92;3.84	5.56	3.64	0.41730	.	0.357218	0.20717	N	0.086997	T	0.08179	0.0204	M	0.71581	2.175	0.34426	D	0.697986	D;D;D;D;D	0.69078	0.993;0.997;0.991;0.995;0.995	B;P;B;P;P	0.50708	0.427;0.648;0.446;0.648;0.648	T	0.02378	-1.1168	10	0.66056	D	0.02	.	6.1779	0.20455	0.0:0.6656:0.1942:0.1402	.	692;3421;3421;3417;3409	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	C	3417;3421;3367;3421;1263	ENSP00000348573:R3417C;ENSP00000351922:R3421C;ENSP00000350813:R3367C;ENSP00000378042:R1263C	ENSP00000348573:R3417C	R	+	1	0	AKAP9	91564458	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	0.735000	0.26115	2.776000	0.95493	0.655000	0.94253	CGC		0.458	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
ANKIB1	54467	broad.mit.edu	37	7	92020537	92020537	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:92020537C>T	ENST00000265742.3	+	16	2486	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	704							zinc ion binding (GO:0008270)	p.R704C(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCTTACCTTCGCACACCCCG	0.483																																					p.R704C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2110T	7						.						83.0	84.0	84.0					7																	92020537		1975	4161	6136	91858473	SO:0001583	missense	54467	exon16			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2110C>T	7.37:g.92020537C>T	ENSP00000265742:p.Arg704Cys		91858473	NM_019004	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500948	0.85176	.	.	ENSG00000001629	ENST00000265742	T	0.12039	2.72	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	L	0.58101	1.795	0.80722	D	1	P	0.52577	0.954	P	0.46718	0.525	T	0.00797	-1.1562	10	0.62326	D	0.03	.	19.4102	0.94670	0.0:1.0:0.0:0.0	.	704	Q9P2G1	AKIB1_HUMAN	C	704	ENSP00000265742:R704C	ENSP00000265742:R704C	R	+	1	0	ANKIB1	91858473	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.884000	0.63135	2.654000	0.90174	0.563000	0.77884	CGC		0.483	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1		
RBM48	84060	broad.mit.edu	37	7	92158204	92158204	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:92158204A>C	ENST00000265732.5	+	1	118	c.77A>C	c.(76-78)aAa>aCa	p.K26T	PEX1_ENST00000428214.1_5'Flank|RBM48_ENST00000481551.1_Missense_Mutation_p.K26T|PEX1_ENST00000438045.1_5'Flank|PEX1_ENST00000248633.4_5'Flank	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	26						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.K26T(1)									ACACGGGCCAAATATCGAGAG	0.547																																					p.K26T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A77C	7						.						86.0	89.0	88.0					7																	92158204		2000	4154	6154	91996140	SO:0001583	missense	84060	exon1			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.77A>C	7.37:g.92158204A>C	ENSP00000265732:p.Lys26Thr		91996140	NM_032120	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198395	0.79015	.	.	ENSG00000127993	ENST00000509224;ENST00000265732;ENST00000481551;ENST00000450580	.	.	.	4.77	2.23	0.28157	.	0.045500	0.85682	N	0.000000	T	0.75125	0.3807	M	0.72894	2.215	0.80722	D	1	D;P;D	0.89917	0.999;0.952;1.0	D;B;D	0.76575	0.937;0.335;0.988	T	0.75722	-0.3218	9	0.87932	D	0	-2.9042	11.5686	0.50820	0.716:0.284:0.0:0.0	.	26;26;26	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	T	28;26;26;26	.	ENSP00000265732:K26T	K	+	2	0	C7orf64	91996140	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	4.404000	0.59735	0.354000	0.24105	0.459000	0.35465	AAA		0.547	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	
SAMD9L	219285	broad.mit.edu	37	7	92761054	92761054	+	Nonsense_Mutation	SNP	G	G	A	rs4729075		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:92761054G>A	ENST00000318238.4	-	5	5447	c.4231C>T	c.(4231-4233)Cga>Tga	p.R1411*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R1411*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R1411*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1411					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.R1411*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACCTCTCGGAGTTGTTTT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		19409	0.0		0.0	False		,,,				2504	0.001				p.R1411X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4231T	7						.						151.0	152.0	151.0					7																	92761054		2203	4300	6503	92598990	SO:0001587	stop_gained	219285	exon5			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4231C>T	7.37:g.92761054G>A	ENSP00000326247:p.Arg1411*		92598990	NM_152703	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	48	14.677715	0.99805	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	.	.	.	5.22	2.25	0.28309	.	0.369870	0.24063	N	0.041899	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8818	14.3967	0.67015	0.0:0.0:0.3555:0.6445	.	.	.	.	X	1411;1411;1411;233	.	ENSP00000326247:R1411X	R	-	1	2	SAMD9L	92598990	0.000000	0.05858	0.999000	0.59377	0.095000	0.18619	-0.027000	0.12371	0.271000	0.22005	0.467000	0.42956	CGA		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
CALCR	799	broad.mit.edu	37	7	93055899	93055899	+	Silent	SNP	G	G	T	rs549002704		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:93055899G>T	ENST00000394441.1	-	13	1509	c.1194C>A	c.(1192-1194)gtC>gtA	p.V398V	CALCR_ENST00000360249.4_Silent_p.V414V|CALCR_ENST00000359558.2_Silent_p.V432V|CALCR_ENST00000426151.1_Silent_p.V398V|CALCR_ENST00000421592.1_Silent_p.V414V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	432					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.V432V(1)|p.V398V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CGGTGGTTTGGACCTGGAAGA	0.493																																					p.V398V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1194A	7						.						25.0	29.0	27.0					7																	93055899		2203	4300	6503	92893835	SO:0001819	synonymous_variant	799	exon14			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1194C>A	7.37:g.93055899G>T			92893835	NM_001742	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	CCDS5631.1																																																																																				0.493	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
PON3	5446	broad.mit.edu	37	7	95001561	95001561	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:95001561T>C	ENST00000265627.5	-	4	301	c.291A>G	c.(289-291)gcA>gcG	p.A97A	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.A97A|PON3_ENST00000451904.1_Silent_p.A97A	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	97					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.A97A(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTAGCGCTTGTGCCCTTGGGT	0.373																																					p.A97A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A291G	7						.						157.0	148.0	151.0					7																	95001561		2203	4300	6503	94839497	SO:0001819	synonymous_variant	5446	exon4			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.291A>G	7.37:g.95001561T>C			94839497	NM_000940	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Silent	SNP	ENST00000265627.5	37	CCDS5639.1																																																																																				0.373	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	
PDK4	5166	broad.mit.edu	37	7	95214967	95214967	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:95214967C>A	ENST00000005178.5	-	11	1419	c.1222G>T	c.(1222-1224)Gaa>Taa	p.E408*		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	408					cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.E408*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			ATGGCCACTTCTTTTGCCAGG	0.468																																					p.E408X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1222T	7						.						185.0	155.0	165.0					7																	95214967		2203	4300	6503	95052903	SO:0001587	stop_gained	5166	exon11			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.1222G>T	7.37:g.95214967C>A	ENSP00000005178:p.Glu408*		95052903	NM_002612		Nonsense_Mutation	SNP	ENST00000005178.5	37	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	C	37	5.986774	0.97173	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	.	.	.	5.03	3.19	0.36642	.	0.655405	0.15364	N	0.266243	.	.	.	.	.	.	0.23747	N	0.996956	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	7.6018	0.28079	0.0:0.5674:0.3449:0.0877	.	.	.	.	X	408;372	.	ENSP00000005178:E408X	E	-	1	0	PDK4	95052903	0.692000	0.27719	0.103000	0.21229	0.948000	0.59901	1.410000	0.34691	0.807000	0.34208	0.557000	0.71058	GAA		0.468	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612	
DYNC1I1	1780	broad.mit.edu	37	7	95442584	95442584	+	Silent	SNP	G	G	A	rs549738585	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:95442584G>A	ENST00000324972.6	+	4	493	c.300G>A	c.(298-300)tcG>tcA	p.S100S	DYNC1I1_ENST00000437599.1_Silent_p.S100S|DYNC1I1_ENST00000447467.2_Silent_p.S83S|DYNC1I1_ENST00000537881.1_Silent_p.S83S|DYNC1I1_ENST00000457059.1_Silent_p.S83S|DYNC1I1_ENST00000413338.1_Silent_p.S83S|DYNC1I1_ENST00000359388.4_Silent_p.S83S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	100	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.S100S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTCCCTCCTCGAAATCAGTGA	0.473																																					p.S100S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G300A	7						.						96.0	94.0	95.0					7																	95442584		2203	4300	6503	95280520	SO:0001819	synonymous_variant	1780	exon4			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.300G>A	7.37:g.95442584G>A			95280520	NM_004411	B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	CCDS5644.1																																																																																				0.473	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
SLC25A13	10165	broad.mit.edu	37	7	95813723	95813723	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:95813723G>T	ENST00000265631.5	-	11	1179	c.1043C>A	c.(1042-1044)cCt>cAt	p.P348H	SLC25A13_ENST00000542654.1_Missense_Mutation_p.P240H|SLC25A13_ENST00000416240.2_Missense_Mutation_p.P349H			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	348					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.P348H(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAGATCGATAGGATACACAGC	0.363																																					p.P348H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1043A	7						.						66.0	61.0	63.0					7																	95813723		2203	4300	6503	95651659	SO:0001583	missense	10165	exon11			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1043C>A	7.37:g.95813723G>T	ENSP00000265631:p.Pro348His		95651659	NM_014251	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545966	0.86022	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.96885	-4.16;-4.16;-4.16	4.56	4.56	0.56223	Mitochondrial carrier domain (2);	0.064498	0.64402	D	0.000008	D	0.99099	0.9690	H	0.99391	4.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98735	1.0714	10	0.87932	D	0	-11.7287	17.8857	0.88854	0.0:0.0:1.0:0.0	.	240;349;348	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	H	348;349;240	ENSP00000265631:P348H;ENSP00000400101:P349H;ENSP00000440484:P240H	ENSP00000265631:P348H	P	-	2	0	SLC25A13	95651659	1.000000	0.71417	0.963000	0.40424	0.968000	0.65278	9.657000	0.98554	2.526000	0.85167	0.655000	0.94253	CCT		0.363	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	
SHFM1	7979	broad.mit.edu	37	7	96324147	96324147	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:96324147C>T	ENST00000248566.2	-	2	260	c.133G>A	c.(133-135)Gat>Aat	p.D45N	SHFM1_ENST00000417009.1_Missense_Mutation_p.D45N|SHFM1_ENST00000444799.1_Missense_Mutation_p.D45N|SHFM1_ENST00000413065.1_Missense_Mutation_p.D45N	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	45	Asp/Glu-rich (highly acidic).				double-strand break repair via homologous recombination (GO:0000724)	proteasome complex (GO:0000502)		p.D45N(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					ACATTGTCATCATCCCAATTA	0.333								Homologous recombination																													p.D45N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G133A	7						.						179.0	176.0	177.0					7																	96324147		2203	4300	6503	96162083	SO:0001583	missense	7979	exon2			U41515	CCDS5646.1	7q21.3	2010-04-22			ENSG00000127922	ENSG00000127922			10845	protein-coding gene	gene with protein product	"""deleted in split-hand/foot 1"""	601285		SHFD1		1895319, 8733122	Standard	NM_006304		Approved	DSS1, Shfdg1, ECD, SEM1, SHSF1	uc003uoi.3	P60896	OTTHUMG00000150680	ENST00000248566.2:c.133G>A	7.37:g.96324147C>T	ENSP00000248566:p.Asp45Asn		96162083	NM_006304	Q13437|Q61067	Missense_Mutation	SNP	ENST00000248566.2	37	CCDS5646.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383641	0.82792	.	.	ENSG00000127922	ENST00000417009;ENST00000444799;ENST00000413065;ENST00000248566	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	.	.	.	0.80722	D	1	D;P	0.76494	0.999;0.899	D;P	0.85130	0.997;0.822	T	0.83142	-0.0108	9	0.72032	D	0.01	.	18.8871	0.92383	0.0:1.0:0.0:0.0	.	45;45	F2Z309;P60896	.;DSS1_HUMAN	N	45	ENSP00000416322:D45N;ENSP00000390049:D45N;ENSP00000409481:D45N;ENSP00000248566:D45N	ENSP00000248566:D45N	D	-	1	0	SHFM1	96162083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.599000	0.82757	2.728000	0.93425	0.650000	0.86243	GAT		0.333	SHFM1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319595.1	NM_006304	
LMTK2	22853	broad.mit.edu	37	7	97816231	97816231	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:97816231C>T	ENST00000297293.5	+	9	1212	c.919C>T	c.(919-921)Cga>Tga	p.R307*		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	307	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.R307*(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTTCCCTCTGCGATGGACTGC	0.358																																					p.R307X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C919T	7						.						112.0	107.0	109.0					7																	97816231		2203	4300	6503	97654167	SO:0001587	stop_gained	22853	exon9			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.919C>T	7.37:g.97816231C>T	ENSP00000297293:p.Arg307*		97654167	NM_014916	A4D272|Q75MG7|Q9UPS3	Nonsense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	40	8.031393	0.98619	.	.	ENSG00000164715	ENST00000297293	.	.	.	5.27	4.37	0.52481	.	0.065382	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.9883	0.53161	0.3255:0.6745:0.0:0.0	.	.	.	.	X	307	.	ENSP00000297293:R307X	R	+	1	2	LMTK2	97654167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.452000	0.60054	1.186000	0.42985	0.585000	0.79938	CGA		0.358	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
LMTK2	22853	broad.mit.edu	37	7	97821315	97821315	+	Missense_Mutation	SNP	C	C	T	rs201907719		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:97821315C>T	ENST00000297293.5	+	11	1831	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	513					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)	p.S513L(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTTGAGAGTTCGCTTTCAGAT	0.567																																					p.S513L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1538T	7						.						45.0	51.0	49.0					7																	97821315		2203	4300	6503	97659251	SO:0001583	missense	22853	exon11			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1538C>T	7.37:g.97821315C>T	ENSP00000297293:p.Ser513Leu		97659251	NM_014916	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002206	0.54254	.	.	ENSG00000164715	ENST00000297293	T	0.78924	-1.22	6.17	6.17	0.99709	.	0.206627	0.45361	D	0.000363	T	0.81034	0.4739	M	0.70595	2.14	0.21604	N	0.999621	D	0.61697	0.99	P	0.48368	0.575	T	0.78038	-0.2360	10	0.72032	D	0.01	.	14.6754	0.68975	0.1449:0.8551:0.0:0.0	.	513	Q8IWU2	LMTK2_HUMAN	L	513	ENSP00000297293:S513L	ENSP00000297293:S513L	S	+	2	0	LMTK2	97659251	0.639000	0.27234	0.331000	0.25455	0.253000	0.25986	6.812000	0.75226	2.941000	0.99782	0.655000	0.94253	TCG		0.567	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
ARPC1A	10552	broad.mit.edu	37	7	98942038	98942038	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:98942038G>A	ENST00000262942.5	+	4	416	c.292G>A	c.(292-294)Gca>Aca	p.A98T	ARPC1A_ENST00000432884.2_Missense_Mutation_p.A51T	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	98					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)	p.A98T(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AATTAATCGCGCAGCTACTTT	0.483																																					p.A84T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G250A	7						.						103.0	94.0	97.0					7																	98942038		2203	4300	6503	98779974	SO:0001583	missense	10552	exon4			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.292G>A	7.37:g.98942038G>A	ENSP00000262942:p.Ala98Thr		98779974	NM_001190996	A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707583	0.96821	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.66638	-0.22;-0.22	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86952	0.6057	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.979;0.982	D	0.89065	0.3465	10	0.59425	D	0.04	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	93;98	Q53GB6;Q92747	.;ARC1A_HUMAN	T	51;98	ENSP00000408578:A51T;ENSP00000262942:A98T	ENSP00000262942:A98T	A	+	1	0	ARPC1A	98779974	1.000000	0.71417	0.979000	0.43373	0.980000	0.70556	9.852000	0.99516	2.778000	0.95560	0.655000	0.94253	GCA		0.483	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409	
CPSF4	10898	broad.mit.edu	37	7	99051617	99051617	+	Missense_Mutation	SNP	C	C	T	rs576966048		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:99051617C>T	ENST00000292476.5	+	7	609	c.599C>T	c.(598-600)tCg>tTg	p.S200L	CPSF4_ENST00000441580.1_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000436336.2_Intron|CPSF4_ENST00000451876.1_Intron|CPSF4_ENST00000471455.1_3'UTR|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	200					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S200L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTACAAAGGTCGTCCTCCTTG	0.512																																					p.S200L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C599T	7						.						232.0	241.0	238.0					7																	99051617		2203	4300	6503	98889553	SO:0001583	missense	10898	exon7				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.599C>T	7.37:g.99051617C>T	ENSP00000292476:p.Ser200Leu		98889553	NM_006693	D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	CCDS5664.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733013	0.89482	.	.	ENSG00000160917	ENST00000292476	T	0.23348	1.91	5.67	5.67	0.87782	.	0.348461	0.31279	N	0.007929	T	0.20495	0.0493	N	0.24115	0.695	0.80722	D	1	B	0.21071	0.051	B	0.08055	0.003	T	0.03910	-1.0993	10	0.24483	T	0.36	-7.1225	19.7534	0.96277	0.0:1.0:0.0:0.0	.	200	O95639	CPSF4_HUMAN	L	200	ENSP00000292476:S200L	ENSP00000292476:S200L	S	+	2	0	CPSF4	98889553	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.240000	0.78192	2.686000	0.91538	0.655000	0.94253	TCG		0.512	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1		
ZNF789	285989	broad.mit.edu	37	7	99084495	99084495	+	Missense_Mutation	SNP	G	G	T	rs147857503		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:99084495G>T	ENST00000331410.5	+	5	932	c.662G>T	c.(661-663)aGa>aTa	p.R221I	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R221I(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CAACATCAAAGAATTCACTTT	0.433																																					p.R221I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662T	7						.	G	ILE/ARG	0,4406		0,0,2203	126.0	129.0	128.0		662	2.7	0.6	7	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF789	NM_213603.2	97	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	221/426	99084495	1,13005	2203	4300	6503	98922431	SO:0001583	missense	285989	exon5			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.662G>T	7.37:g.99084495G>T	ENSP00000331927:p.Arg221Ile		98922431	NM_213603	A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457932	0.43634	0.0	1.16E-4	ENSG00000198556	ENST00000331410	T	0.58060	0.36	2.68	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60196	0.2250	M	0.74467	2.265	0.58432	D	0.999991	D	0.55172	0.97	P	0.55749	0.783	T	0.62039	-0.6938	9	0.52906	T	0.07	.	5.5663	0.17173	0.1492:0.0:0.8508:0.0	.	221	Q5FWF6	ZN789_HUMAN	I	221	ENSP00000331927:R221I	ENSP00000331927:R221I	R	+	2	0	ZNF789	98922431	0.090000	0.21635	0.590000	0.28732	0.997000	0.91878	2.298000	0.43602	1.823000	0.53134	0.650000	0.86243	AGA		0.433	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603	
ZNF789	285989	broad.mit.edu	37	7	99084677	99084677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:99084677G>T	ENST00000331410.5	+	5	1114	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E282*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCACACCAAAGAAAAACCTTA	0.393																																					p.E282X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G844T	7						.						67.0	70.0	69.0					7																	99084677		2203	4300	6503	98922613	SO:0001587	stop_gained	285989	exon5			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.844G>T	7.37:g.99084677G>T	ENSP00000331927:p.Glu282*		98922613	NM_213603	A4D282|A6NH61|Q6ZMZ9	Nonsense_Mutation	SNP	ENST00000331410.5	37	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318194	0.40996	.	.	ENSG00000198556	ENST00000331410	.	.	.	2.72	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.83	0.29336	0.1314:0.0:0.8686:0.0	.	.	.	.	X	282	.	ENSP00000331927:E282X	E	+	1	0	ZNF789	98922613	1.000000	0.71417	0.349000	0.25694	0.004000	0.04260	8.543000	0.90651	0.730000	0.32425	-0.145000	0.13849	GAA		0.393	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603	
ZNF789	285989	broad.mit.edu	37	7	99084990	99084990	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:99084990G>A	ENST00000331410.5	+	5	1427	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R386Q(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AATCTTTTTCGACATCAGGTC	0.403																																					p.R386Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1157A	7						.						131.0	128.0	129.0					7																	99084990		2203	4300	6503	98922926	SO:0001583	missense	285989	exon5			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.1157G>A	7.37:g.99084990G>A	ENSP00000331927:p.Arg386Gln		98922926	NM_213603	A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.517778	0.00151	.	.	ENSG00000198556	ENST00000331410	T	0.07216	3.21	2.78	0.96	0.19631	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.22421	0.69	0.09310	N	1	B	0.25743	0.133	B	0.14578	0.011	T	0.43475	-0.9389	9	0.02654	T	1	.	5.0375	0.14441	0.416:0.0:0.584:0.0	.	386	Q5FWF6	ZN789_HUMAN	Q	386	ENSP00000331927:R386Q	ENSP00000331927:R386Q	R	+	2	0	ZNF789	98922926	0.000000	0.05858	0.019000	0.16419	0.085000	0.17905	-3.345000	0.00504	0.255000	0.21593	0.650000	0.86243	CGA		0.403	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603	
CYP3A4	1576	broad.mit.edu	37	7	99359808	99359808	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:99359808G>A	ENST00000336411.2	-	11	1292	c.1109C>T	c.(1108-1110)gCt>gTt	p.A370V	CYP3A4_ENST00000354593.2_Missense_Mutation_p.A220V	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	370					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.A370V(1)		breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	AAGTCTCATAGCAATTGGGAA	0.453																																					p.A370V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1109T	7						.						189.0	164.0	173.0					7																	99359808		2203	4300	6503	99197744	SO:0001583	missense	1576	exon11			AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1109C>T	7.37:g.99359808G>A	ENSP00000337915:p.Ala370Val		99197744	NM_017460	P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	G	4.308	0.056359	0.08291	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.64438	-0.1;-0.1	4.35	2.35	0.29111	.	0.230853	0.42172	D	0.000747	T	0.44685	0.1305	N	0.17723	0.515	0.22675	N	0.998863	B;B;B;B;B	0.24258	0.1;0.012;0.052;0.052;0.052	B;B;B;B;B	0.22753	0.041;0.011;0.023;0.023;0.023	T	0.37911	-0.9685	10	0.41790	T	0.15	.	11.6828	0.51468	0.0:0.3431:0.6569:0.0	.	220;297;370;370;370	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	V	220;370	ENSP00000346607:A220V;ENSP00000337915:A370V	ENSP00000337915:A370V	A	-	2	0	CYP3A4	99197744	0.000000	0.05858	0.035000	0.18076	0.023000	0.10783	0.522000	0.22909	0.785000	0.33685	-0.304000	0.09214	GCT		0.453	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1		
GJC3	349149	broad.mit.edu	37	7	99526680	99526680	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:99526680C>T	ENST00000312891.2	-	1	563	c.564G>A	c.(562-564)aaG>aaA	p.K188K	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	188					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)		p.K188K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGAAAATGGTCTTCTCAGAGG	0.502																																					p.K188K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G564A	7						.						108.0	110.0	109.0					7																	99526680		2203	4300	6503	99364616	SO:0001819	synonymous_variant	349149	exon1			AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.564G>A	7.37:g.99526680C>T			99364616	NM_181538	A4D296|Q86XI9	Silent	SNP	ENST00000312891.2	37	CCDS34697.1																																																																																				0.502	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538	
TAF6	6878	broad.mit.edu	37	7	99708918	99708918	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:99708918C>A	ENST00000344095.4	-	10	1452	c.927G>T	c.(925-927)atG>atT	p.M309I	TAF6_ENST00000452041.1_Missense_Mutation_p.M309I|TAF6_ENST00000418432.2_Missense_Mutation_p.M233I|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000472509.1_Missense_Mutation_p.M366I|TAF6_ENST00000453269.2_Missense_Mutation_p.M309I|TAF6_ENST00000437822.2_Missense_Mutation_p.M346I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	309					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M309I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGATGCAGGTCATCACAGCTG	0.547																																					p.M309I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G927T	7						.						100.0	90.0	93.0					7																	99708918		2203	4300	6503	99546854	SO:0001583	missense	6878	exon10				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.927G>T	7.37:g.99708918C>A	ENSP00000344537:p.Met309Ile		99546854	NM_005641	A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046004	0.36085	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.24	5.24	0.73138	Domain of unknown function DUF1546 (1);	0.137540	0.64402	D	0.000002	T	0.43964	0.1271	N	0.03000	-0.44	0.48452	D	0.999658	B;B;B;B;B	0.20261	0.043;0.013;0.016;0.004;0.043	B;B;B;B;B	0.18871	0.023;0.008;0.013;0.013;0.023	T	0.37033	-0.9723	10	0.30078	T	0.28	-30.702	16.3815	0.83462	0.0:1.0:0.0:0.0	.	346;309;299;309;233	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	I	309;366;309;309;233;346	ENSP00000389575:M309I;ENSP00000419760:M366I;ENSP00000416396:M309I;ENSP00000344537:M309I;ENSP00000407980:M233I;ENSP00000399982:M346I	ENSP00000344537:M309I	M	-	3	0	TAF6	99546854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.679000	0.46909	2.724000	0.93272	0.561000	0.74099	ATG		0.547	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641	
NCAPG2	54892	broad.mit.edu	37	7	158486103	158486103	+	Missense_Mutation	SNP	C	C	A	rs547669473		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr7:158486103C>A	ENST00000409423.1	-	4	337	c.165G>T	c.(163-165)aaG>aaT	p.K55N	NCAPG2_ENST00000409339.3_Missense_Mutation_p.K55N|NCAPG2_ENST00000449727.2_Missense_Mutation_p.K55N|NCAPG2_ENST00000356309.3_Missense_Mutation_p.K55N|NCAPG2_ENST00000479022.1_Intron	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	55					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.K55N(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TCAATAAATTCTTCAGCCTTT	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		16436	0.0		0.0	False		,,,				2504	0.001				p.K55N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G165T	7						.						173.0	159.0	163.0					7																	158486103		1857	4113	5970	158178864	SO:0001583	missense	54892	exon3			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.165G>T	7.37:g.158486103C>A	ENSP00000386569:p.Lys55Asn		158178864	NM_017760	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702609	0.30232	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000449727	T;T;T;T	0.31247	1.51;1.51;1.5;1.5	4.82	2.93	0.34026	Armadillo-type fold (1);	0.299777	0.37906	N	0.001898	T	0.30448	0.0765	M	0.67953	2.075	0.20403	N	0.999906	P;B	0.36465	0.554;0.418	B;B	0.38712	0.28;0.094	T	0.11203	-1.0597	10	0.22706	T	0.39	-10.9189	9.6459	0.39868	0.0:0.7608:0.0:0.2392	.	55;55	Q86XI2-2;Q86XI2	.;CNDG2_HUMAN	N	55	ENSP00000348657:K55N;ENSP00000386569:K55N;ENSP00000387007:K55N;ENSP00000388326:K55N	ENSP00000348657:K55N	K	-	3	2	NCAPG2	158178864	0.926000	0.31397	0.752000	0.31206	0.614000	0.37383	0.987000	0.29603	1.131000	0.42111	0.655000	0.94253	AAG		0.398	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	
VPS13B	157680	broad.mit.edu	37	8	100147929	100147929	+	Missense_Mutation	SNP	G	G	A	rs368241718		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:100147929G>A	ENST00000358544.2	+	11	1642	c.1531G>A	c.(1531-1533)Gca>Aca	p.A511T	VPS13B_ENST00000395996.1_Missense_Mutation_p.A511T|VPS13B_ENST00000355155.1_Missense_Mutation_p.A511T|VPS13B_ENST00000357162.2_Missense_Mutation_p.A511T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	511					protein transport (GO:0015031)			p.A511T(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGTACTCGCGCAGAATTTAT	0.353																																					p.A511T	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1531A	8						.	G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	92.0	83.0	86.0		1531,1531,1531	5.4	1.0	8		86	0,8600		0,0,4300	no	missense,missense,missense	VPS13B	NM_015243.2,NM_017890.3,NM_152564.3	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	511/864,511/4023,511/3998	100147929	1,13005	2203	4300	6503	100217105	SO:0001583	missense	157680	exon11			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1531G>A	8.37:g.100147929G>A	ENSP00000351346:p.Ala511Thr		100217105	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001115	0.54254	2.27E-4	0.0	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.77358	-1.09;-0.37;-0.37;-0.08	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000003	T	0.79125	0.4393	N	0.14661	0.345	0.58432	D	0.999999	D;D;D;P	0.89917	1.0;1.0;1.0;0.632	D;D;D;B	0.87578	0.998;0.996;0.998;0.095	T	0.75569	-0.3272	10	0.18710	T	0.47	.	19.4358	0.94794	0.0:0.0:1.0:0.0	.	511;511;511;511	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	T	511	ENSP00000347281:A511T;ENSP00000349685:A511T;ENSP00000351346:A511T;ENSP00000379318:A511T	ENSP00000347281:A511T	A	+	1	0	VPS13B	100217105	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	9.111000	0.94308	2.663000	0.90544	0.655000	0.94253	GCA		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100831751	100831751	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:100831751C>A	ENST00000358544.2	+	48	8919	c.8808C>A	c.(8806-8808)ttC>ttA	p.F2936L	VPS13B_ENST00000357162.2_Missense_Mutation_p.F2911L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2936					protein transport (GO:0015031)			p.F2936L(1)|p.F2911L(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTGACGAATTCTATGGGCCAG	0.403																																					p.F2911L	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8733A	8						.						104.0	95.0	98.0					8																	100831751		2203	4300	6503	100900927	SO:0001583	missense	157680	exon48			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8808C>A	8.37:g.100831751C>A	ENSP00000351346:p.Phe2936Leu		100900927	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	4.425	0.078590	0.08533	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.66995	-0.24;-0.24	5.98	3.25	0.37280	.	0.134191	0.52532	D	0.000071	T	0.66015	0.2747	L	0.32530	0.975	0.39002	D	0.959374	D;D	0.67145	0.99;0.996	D;P	0.68943	0.961;0.874	T	0.61681	-0.7013	10	0.08179	T	0.78	.	9.792	0.40710	0.0:0.6735:0.0:0.3265	.	2911;2936	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	L	2911;2936	ENSP00000349685:F2911L;ENSP00000351346:F2936L	ENSP00000349685:F2911L	F	+	3	2	VPS13B	100900927	1.000000	0.71417	0.995000	0.50966	0.458000	0.32498	1.306000	0.33505	0.435000	0.26365	-0.216000	0.12614	TTC		0.403	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
VPS13B	157680	broad.mit.edu	37	8	100833667	100833667	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:100833667T>C	ENST00000358544.2	+	50	9326	c.9215T>C	c.(9214-9216)gTt>gCt	p.V3072A	VPS13B_ENST00000357162.2_Missense_Mutation_p.V3047A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3072					protein transport (GO:0015031)			p.V3047A(1)|p.V3072A(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAAGCGTTTGTTGATACTGAA	0.433																																					p.V3047A	Colon(161;2205 2542 7338 31318)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T9140C	8						.						270.0	249.0	256.0					8																	100833667		2203	4300	6503	100902843	SO:0001583	missense	157680	exon50			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9215T>C	8.37:g.100833667T>C	ENSP00000351346:p.Val3072Ala		100902843	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.590069	0.66105	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.80653	-1.4;-1.4	5.76	5.76	0.90799	.	0.282399	0.33457	N	0.004883	T	0.71525	0.3350	L	0.29908	0.895	0.80722	D	1	B;P	0.39665	0.287;0.682	B;B	0.35182	0.124;0.197	T	0.74144	-0.3760	10	0.48119	T	0.1	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	3047;3072	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	A	3047;3072	ENSP00000349685:V3047A;ENSP00000351346:V3072A	ENSP00000349685:V3047A	V	+	2	0	VPS13B	100902843	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.289000	0.72696	2.191000	0.70037	0.533000	0.62120	GTT		0.433	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
RGS22	26166	broad.mit.edu	37	8	101014537	101014537	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:101014537C>A	ENST00000360863.6	-	18	2877	c.2683G>T	c.(2683-2685)Gat>Tat	p.D895Y	RGS22_ENST00000519421.1_5'Flank|RGS22_ENST00000523287.1_Missense_Mutation_p.D714Y|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523437.1_Missense_Mutation_p.D883Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	895	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.D895Y(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGATTTCGATCTCTGTAAGTT	0.338																																					p.D895Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2683T	8						.						90.0	81.0	84.0					8																	101014537		1817	4076	5893	101083713	SO:0001583	missense	26166	exon18			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2683G>T	8.37:g.101014537C>A	ENSP00000354109:p.Asp895Tyr		101083713	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293133	0.40594	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.4	4.52	0.55395	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.143965	0.45361	D	0.000378	T	0.48390	0.1497	M	0.69823	2.125	0.40122	D	0.976619	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.961	T	0.52756	-0.8533	10	0.72032	D	0.01	.	11.5593	0.50768	0.0:0.8559:0.0:0.1441	.	883;895;714	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	Y	895;882;714;883;210	ENSP00000354109:D895Y;ENSP00000429382:D714Y;ENSP00000428212:D883Y;ENSP00000427754:D210Y	ENSP00000354109:D895Y	D	-	1	0	RGS22	101083713	0.961000	0.32948	0.296000	0.24974	0.269000	0.26545	2.112000	0.41892	1.411000	0.46957	-0.145000	0.13849	GAT		0.338	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
RGS22	26166	broad.mit.edu	37	8	101016271	101016271	+	Missense_Mutation	SNP	C	C	T	rs545074494		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:101016271C>T	ENST00000360863.6	-	17	2704	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523287.1_Missense_Mutation_p.R656Q|SNORD77_ENST00000391112.1_RNA|RGS22_ENST00000523437.1_Missense_Mutation_p.R825Q	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	837					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R837Q(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		18959	0.001		0.0	False		,,,				2504	0.0				p.R837Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2510A	8						.						130.0	119.0	123.0					8																	101016271		1851	4091	5942	101085447	SO:0001583	missense	26166	exon17			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2510G>A	8.37:g.101016271C>T	ENSP00000354109:p.Arg837Gln		101085447	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	1.388	-0.581481	0.03854	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.41400	1.61;1.61;1.61;1.0	5.49	1.78	0.24846	.	1.201650	0.05911	N	0.631661	T	0.14485	0.0350	N	0.00583	-1.355	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.22765	-1.0207	10	0.16896	T	0.51	.	8.891	0.35434	0.0:0.0744:0.1283:0.7973	.	825;837;656	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	Q	837;825;656;825;152	ENSP00000354109:R837Q;ENSP00000429382:R656Q;ENSP00000428212:R825Q;ENSP00000427754:R152Q	ENSP00000354109:R837Q	R	-	2	0	RGS22	101085447	0.210000	0.23517	0.047000	0.18901	0.118000	0.20060	0.532000	0.23067	0.057000	0.16193	-1.074000	0.02243	CGA		0.353	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
FBXO43	286151	broad.mit.edu	37	8	101153421	101153421	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:101153421G>T	ENST00000428847.2	-	2	1377	c.1061C>A	c.(1060-1062)tCt>tAt	p.S354Y		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	354					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S320Y(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTCTTGAAAAGAACCCTCCTG	0.458																																					p.S354Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1061A	8						.						117.0	110.0	113.0					8																	101153421		1863	4095	5958	101222597	SO:0001583	missense	286151	exon2			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1061C>A	8.37:g.101153421G>T	ENSP00000403293:p.Ser354Tyr		101222597	NM_001029860		Missense_Mutation	SNP	ENST00000428847.2	37	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134545	0.77662	.	.	ENSG00000156509	ENST00000428847	T	0.61274	0.12	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79072	-0.1953	10	0.87932	D	0	-16.8431	19.9215	0.97087	0.0:0.0:1.0:0.0	.	320;354	C9J908;Q4G163	.;FBX43_HUMAN	Y	354	ENSP00000403293:S354Y	ENSP00000403293:S354Y	S	-	2	0	FBXO43	101222597	1.000000	0.71417	0.996000	0.52242	0.682000	0.39822	9.129000	0.94430	2.785000	0.95823	0.655000	0.94253	TCT		0.458	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918	
FBXO43	286151	broad.mit.edu	37	8	101154208	101154208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:101154208C>A	ENST00000428847.2	-	2	590	c.274G>T	c.(274-276)Gaa>Taa	p.E92*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	92					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.E58*(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CCAAGATATTCTTTATCTATA	0.373																																					p.E92X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.G274T	8						.						49.0	47.0	47.0					8																	101154208		1805	4068	5873	101223384	SO:0001587	stop_gained	286151	exon2			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.274G>T	8.37:g.101154208C>A	ENSP00000403293:p.Glu92*		101223384	NM_001029860		Nonsense_Mutation	SNP	ENST00000428847.2	37	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540064	0.65085	.	.	ENSG00000156509	ENST00000428847	.	.	.	4.52	4.52	0.55395	.	0.461349	0.22687	N	0.056880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-6.0805	12.6827	0.56930	0.1651:0.8349:0.0:0.0	.	.	.	.	X	92	.	ENSP00000403293:E92X	E	-	1	0	FBXO43	101223384	0.612000	0.27000	0.113000	0.21522	0.019000	0.09904	2.249000	0.43169	2.205000	0.71048	0.563000	0.77884	GAA		0.373	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918	
ANKRD46	157567	broad.mit.edu	37	8	101541861	101541861	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:101541861G>A	ENST00000520552.1	-	3	362	c.201C>T	c.(199-201)ttC>ttT	p.F67F	ANKRD46_ENST00000335659.3_Silent_p.F67F|ANKRD46_ENST00000519316.1_Silent_p.F67F|ANKRD46_ENST00000519597.1_Silent_p.F67F|ANKRD46_ENST00000520311.1_Silent_p.F67F	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	67						integral component of membrane (GO:0016021)		p.F67F(2)		kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GATCGGCACCGAATTTATGCA	0.478																																					p.F67F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C201T	8						.						129.0	116.0	120.0					8																	101541861		2203	4300	6503	101611037	SO:0001819	synonymous_variant	157567	exon4			AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.201C>T	8.37:g.101541861G>A			101611037	NM_198401	Q6P9B7	Silent	SNP	ENST00000520552.1	37	CCDS59109.1																																																																																				0.478	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401	
NCALD	83988	broad.mit.edu	37	8	102701564	102701564	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:102701564G>A	ENST00000311028.3	-	7	933	c.555C>T	c.(553-555)tgC>tgT	p.C185C	NCALD_ENST00000519508.2_Silent_p.C185C|KB-1107E3.1_ENST00000518749.1_RNA|NCALD_ENST00000220931.6_Silent_p.C185C|NCALD_ENST00000522951.1_Intron|NCALD_ENST00000521599.1_Silent_p.C185C|NCALD_ENST00000395923.1_Silent_p.C185C	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	185					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)	p.C185C(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TGCTCGGGTCGCACTGCAGGA	0.522																																					p.C185C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C555T	8						.						47.0	44.0	45.0					8																	102701564		2203	4300	6503	102770740	SO:0001819	synonymous_variant	83988	exon8			AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.555C>T	8.37:g.102701564G>A			102770740	NM_001040624	P29554|Q8IYC3|Q9H0W2	Silent	SNP	ENST00000311028.3	37	CCDS6292.1																																																																																				0.522	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2		
KLF10	7071	broad.mit.edu	37	8	103663484	103663484	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:103663484G>A	ENST00000285407.6	-	3	1376	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	KLF10_ENST00000395884.3_Missense_Mutation_p.P348L	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	359					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P359L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			ATCAATCTGAGGAGTGACTTT	0.527																																					p.P348L	Esophageal Squamous(16;495 519 2144 16528 44005)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1043T	8						.						96.0	106.0	102.0					8																	103663484		2203	4300	6503	103732660	SO:0001583	missense	7071	exon3			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1076C>T	8.37:g.103663484G>A	ENSP00000285407:p.Pro359Leu		103732660	NM_001032282	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	37	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890036	0.52014	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.18338	2.22;2.28	5.5	5.5	0.81552	.	0.303685	0.33309	N	0.005045	T	0.14787	0.0357	L	0.33485	1.01	0.58432	D	0.999999	B;B	0.19706	0.003;0.038	B;B	0.14578	0.004;0.011	T	0.02294	-1.1181	10	0.56958	D	0.05	.	13.0344	0.58862	0.0737:0.0:0.9263:0.0	.	359;348	Q13118;O75411	KLF10_HUMAN;.	L	359;348	ENSP00000285407:P359L;ENSP00000379222:P348L	ENSP00000285407:P359L	P	-	2	0	KLF10	103732660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.008000	0.88588	2.735000	0.93741	0.655000	0.94253	CCT		0.527	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1		
BAALC	79870	broad.mit.edu	37	8	104225186	104225186	+	Missense_Mutation	SNP	G	G	A	rs200984161		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:104225186G>A	ENST00000297574.6	+	3	444	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000438105.2_Intron|BAALC_ENST00000309982.5_Missense_Mutation_p.R67Q			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	102						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R67Q(1)		kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GGTGTGCCCCGATCTACAGCC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16498	0.0		0.0	False		,,,				2504	0.0				p.R67Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G200A	8						.	G	,GLN/ARG	0,4406		0,0,2203	130.0	112.0	118.0		,200	3.6	0.9	8		118	1,8599	1.2+/-3.3	0,1,4299	yes	intron,missense	BAALC	NM_001024372.1,NM_024812.2	,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging	,67/146	104225186	1,13005	2203	4300	6503	104294362	SO:0001583	missense	79870	exon2			AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.305G>A	8.37:g.104225186G>A	ENSP00000297574:p.Arg102Gln		104294362	NM_024812	Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.5	3.997935	0.74818	0.0	1.16E-4	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.47869	0.92;0.83	5.69	3.61	0.41365	.	0.455802	0.19205	N	0.120092	T	0.48995	0.1531	.	.	.	0.80722	D	1	D;D	0.71674	0.967;0.998	B;P	0.51701	0.382;0.677	T	0.44143	-0.9347	9	0.38643	T	0.18	-0.213	7.9748	0.30149	0.0:0.1523:0.6227:0.225	.	102;67	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	Q	67;102	ENSP00000312457:R67Q;ENSP00000297574:R102Q	ENSP00000297574:R102Q	R	+	2	0	BAALC	104294362	0.114000	0.22134	0.862000	0.33874	0.937000	0.57800	1.534000	0.36051	1.509000	0.48786	0.655000	0.94253	CGA		0.567	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1		
BAALC	79870	broad.mit.edu	37	8	104240312	104240312	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:104240312G>T	ENST00000297574.6	+	4	667	c.528G>T	c.(526-528)aaG>aaT	p.K176N	RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000523754.1_3'UTR|RP11-318M2.3_ENST00000523775.1_RNA|BAALC_ENST00000438105.2_3'UTR|BAALC_ENST00000309982.5_Missense_Mutation_p.K141N			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	176						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.K141N(1)		kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GAATCACAAAGAACTGTGTCA	0.448																																					p.K141N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G423T	8						.						107.0	92.0	98.0					8																	104240312		2203	4300	6503	104309488	SO:0001583	missense	79870	exon3			AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.528G>T	8.37:g.104240312G>T	ENSP00000297574:p.Lys176Asn		104309488	NM_024812	Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	ENST00000297574.6	37		.	.	.	.	.	.	.	.	.	.	G	19.22	3.784786	0.70222	.	.	ENSG00000164929	ENST00000309982;ENST00000297574	T;T	0.61274	0.29;0.12	4.94	4.04	0.47022	.	0.000000	0.64402	D	0.000001	T	0.53834	0.1821	.	.	.	0.80722	D	1	P;P	0.46142	0.578;0.873	B;B	0.43123	0.044;0.409	T	0.58183	-0.7681	9	0.72032	D	0.01	-22.5122	10.6749	0.45781	0.0:0.0:0.8086:0.1914	.	176;141	Q8WXS3;Q8WXS3-2	BAALC_HUMAN;.	N	141;176	ENSP00000312457:K141N;ENSP00000297574:K176N	ENSP00000297574:K176N	K	+	3	2	BAALC	104309488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.581000	0.36558	1.145000	0.42336	0.591000	0.81541	AAG		0.448	BAALC-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000380257.1		
FZD6	8323	broad.mit.edu	37	8	104342232	104342232	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:104342232G>A	ENST00000358755.4	+	6	2208	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	FZD6_ENST00000540287.1_Missense_Mutation_p.E326K|FZD6_ENST00000522566.1_Missense_Mutation_p.E631K|FZD6_ENST00000523739.1_Missense_Mutation_p.E599K	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	631					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.E631K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			ACTCTCTGGGGAACAGGTCGA	0.517																																					p.E631K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1891A	8						.						86.0	79.0	81.0					8																	104342232		2203	4300	6503	104411408	SO:0001583	missense	8323	exon6			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1891G>A	8.37:g.104342232G>A	ENSP00000351605:p.Glu631Lys		104411408	NM_001164615	B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909087	0.52439	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.76578	-1.0;-1.0;-1.03;-0.97	5.72	4.83	0.62350	.	1.398310	0.04116	N	0.315452	T	0.72220	0.3433	L	0.27053	0.805	0.32759	N	0.505357	B;P;B	0.39480	0.154;0.675;0.154	B;B;B	0.36666	0.08;0.23;0.08	T	0.65162	-0.6235	10	0.44086	T	0.13	.	15.484	0.75551	0.0675:0.0:0.9325:0.0	.	576;326;631	B4E236;F5H831;O60353	.;.;FZD6_HUMAN	K	631;631;599;326;576	ENSP00000429055:E631K;ENSP00000351605:E631K;ENSP00000429528:E599K;ENSP00000443757:E326K	ENSP00000351605:E631K	E	+	1	0	FZD6	104411408	1.000000	0.71417	0.926000	0.36857	0.176000	0.22953	4.596000	0.61055	1.530000	0.49136	0.655000	0.94253	GAA		0.517	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506	
CTHRC1	115908	broad.mit.edu	37	8	104388186	104388186	+	Splice_Site	SNP	C	C	T	rs374084026		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:104388186C>T	ENST00000330295.5	+	2	513	c.371C>T	c.(370-372)gCg>gTg	p.A124V	CTHRC1_ENST00000520880.1_5'Flank|CTHRC1_ENST00000415886.2_Missense_Mutation_p.A124V|CTHRC1_ENST00000520337.1_Splice_Site_p.A110V	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	124					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.A124V(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGGAAAATTGCGGTAAGTTTG	0.333													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17083	0.0		0.0	False		,,,				2504	0.0				p.A124V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C371T	8						.	C	VAL/ALA	0,4406		0,0,2203	39.0	35.0	36.0		371	4.8	1.0	8		36	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	CTHRC1	NM_138455.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	124/244	104388186	1,13005	2203	4300	6503	104457362	SO:0001630	splice_region_variant	115908	exon2			BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.372+1C>T	8.37:g.104388186C>T			104457362	NM_138455	G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	9.762	1.170452	0.21621	0.0	1.16E-4	ENSG00000164932	ENST00000330295;ENST00000415886;ENST00000520337;ENST00000297577	T;T;T	0.74842	-0.02;-0.88;0.99	5.69	4.82	0.62117	.	0.204155	0.50627	N	0.000107	T	0.68961	0.3058	N	0.15975	0.35	0.80722	D	1	D;P	0.71674	0.998;0.814	P;B	0.58820	0.846;0.122	T	0.64668	-0.6353	10	0.07990	T	0.79	-26.2494	14.9566	0.71120	0.0:0.9315:0.0:0.0685	.	124;124	E7EVQ5;Q96CG8	.;CTHR1_HUMAN	V	124;124;110;110	ENSP00000330523:A124V;ENSP00000416045:A124V;ENSP00000430550:A110V	ENSP00000297577:A110V	A	+	2	0	CTHRC1	104457362	1.000000	0.71417	0.972000	0.41901	0.782000	0.44232	4.696000	0.61774	1.421000	0.47157	-0.196000	0.12772	GCG		0.333	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	Missense_Mutation
CTHRC1	115908	broad.mit.edu	37	8	104394814	104394814	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:104394814G>T	ENST00000330295.5	+	4	860	c.718G>T	c.(718-720)Gaa>Taa	p.E240*	CTHRC1_ENST00000520880.1_Nonsense_Mutation_p.E110*|RNU6-1011P_ENST00000384668.1_RNA|CTHRC1_ENST00000520337.1_Nonsense_Mutation_p.E226*|RP11-1C8.6_ENST00000577199.1_lincRNA	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	240					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)		p.E240*(1)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			CATTATTGAAGAACTACCAAA	0.323																																					p.E240X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G718T	8						.						168.0	172.0	171.0					8																	104394814		2203	4300	6503	104463990	SO:0001587	stop_gained	115908	exon4			BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.718G>T	8.37:g.104394814G>T	ENSP00000330523:p.Glu240*		104463990	NM_138455	G3V141|Q6UW91|Q8IX63	Nonsense_Mutation	SNP	ENST00000330295.5	37	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	G	35	5.498647	0.96355	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	.	.	.	5.44	5.44	0.79542	.	0.046090	0.85682	D	0.000000	.	.	.	.	.	.	0.53688	D	0.999973	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.1266	19.2674	0.93993	0.0:0.0:1.0:0.0	.	.	.	.	X	240;226;226;110	.	ENSP00000297577:E226X	E	+	1	0	CTHRC1	104463990	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.558000	0.86282	0.655000	0.94253	GAA		0.323	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	
RIMS2	9699	broad.mit.edu	37	8	104987596	104987596	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:104987596G>A	ENST00000436393.2	+	14	2364	c.2123G>A	c.(2122-2124)cGa>cAa	p.R708Q	RIMS2_ENST00000262231.10_Missense_Mutation_p.R769Q|RIMS2_ENST00000507740.1_Missense_Mutation_p.R722Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R930Q			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	992	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R722Q(1)|p.R708Q(1)|p.R997Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATGATGGTCGAGATCTTCAA	0.353										HNSCC(12;0.0054)																											p.R930Q												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G2789A	8						.						90.0	82.0	85.0					8																	104987596		1878	4097	5975	105056772	SO:0001583	missense	9699	exon16			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2123G>A	8.37:g.104987596G>A	ENSP00000390665:p.Arg708Gln		105056772	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	G	33	5.214386	0.95104	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.21543	2.0;2.48;2.2;2.15;2.03;2.54	5.11	5.11	0.69529	.	.	.	.	.	T	0.49474	0.1559	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.984;0.997;0.999;1.0;1.0	D;P;D;D;D;D	0.87578	0.997;0.843;0.98;0.997;0.996;0.998	T	0.52283	-0.8596	9	0.72032	D	0.01	.	18.9147	0.92501	0.0:0.0:1.0:0.0	.	992;992;708;769;722;930	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	Q	930;945;930;992;769;722;722;708	ENSP00000427018:R930Q;ENSP00000384892:R930Q;ENSP00000262231:R769Q;ENSP00000423559:R722Q;ENSP00000386228:R722Q;ENSP00000390665:R708Q	ENSP00000262231:R769Q	R	+	2	0	RIMS2	105056772	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.264000	0.78432	2.544000	0.85801	0.655000	0.94253	CGA		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
DPYS	1807	broad.mit.edu	37	8	105405200	105405200	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:105405200G>T	ENST00000351513.2	-	8	1387	c.1255C>A	c.(1255-1257)Cat>Aat	p.H419N	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	419					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.H419N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCTGATGATGAGTTTTTGCT	0.388																																					p.H419N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1255A	8						.						77.0	82.0	80.0					8																	105405200		2203	4300	6503	105474376	SO:0001583	missense	1807	exon8			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1255C>A	8.37:g.105405200G>T	ENSP00000276651:p.His419Asn		105474376	NM_001385		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717134	0.89205	.	.	ENSG00000147647	ENST00000351513	T	0.74526	-0.85	6.02	6.02	0.97574	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.85008	0.5599	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84887	0.0834	10	0.87932	D	0	-20.4997	20.547	0.99278	0.0:0.0:1.0:0.0	.	419	Q14117	DPYS_HUMAN	N	419	ENSP00000276651:H419N	ENSP00000276651:H419N	H	-	1	0	DPYS	105474376	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.529000	0.81952	2.850000	0.98022	0.650000	0.86243	CAT		0.388	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
DPYS	1807	broad.mit.edu	37	8	105459583	105459583	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:105459583A>G	ENST00000351513.2	-	3	704	c.572T>C	c.(571-573)gTc>gCc	p.V191A		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	191					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.V191A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCCGCATGGACCTGGGCAAT	0.448																																					p.V191A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T572C	8						.						120.0	110.0	113.0					8																	105459583		2203	4300	6503	105528759	SO:0001583	missense	1807	exon3			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.572T>C	8.37:g.105459583A>G	ENSP00000276651:p.Val191Ala		105528759	NM_001385		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958556	0.92726	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.91351	-2.83;-2.83	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	M	0.90252	3.1	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.96858	0.9630	10	0.87932	D	0	-37.3652	16.5494	0.84464	1.0:0.0:0.0:0.0	.	191	Q14117	DPYS_HUMAN	A	191;138	ENSP00000276651:V191A;ENSP00000430246:V138A	ENSP00000276651:V191A	V	-	2	0	DPYS	105528759	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.299000	0.77371	0.528000	0.53228	GTC		0.448	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
C8orf74	203076	broad.mit.edu	37	8	10555444	10555444	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:10555444C>T	ENST00000304519.5	+	3	606	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	193								p.R193W(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GCGCCTGGAGCGGGAGAACTC	0.701																																					p.R193W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C577T	8						.						10.0	12.0	11.0					8																	10555444		2063	4194	6257	10592854	SO:0001583	missense	203076	exon3			BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.577C>T	8.37:g.10555444C>T	ENSP00000307129:p.Arg193Trp		10592854	NM_001040032	A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873804	0.51695	.	.	ENSG00000171060	ENST00000304519	T	0.34472	1.36	5.24	-0.921	0.10472	.	1.068390	0.07272	N	0.869392	T	0.22282	0.0537	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	B	0.43123	0.409	T	0.26780	-1.0093	10	0.66056	D	0.02	.	7.41	0.27011	0.5096:0.2379:0.2525:0.0	.	193	Q6P047	CH074_HUMAN	W	193	ENSP00000307129:R193W	ENSP00000307129:R193W	R	+	1	2	C8orf74	10592854	0.012000	0.17670	0.002000	0.10522	0.001000	0.01503	-0.197000	0.09518	0.097000	0.17492	-0.268000	0.10319	CGG		0.701	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032	
SOX7	83595	broad.mit.edu	37	8	10583419	10583419	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:10583419G>A	ENST00000304501.1	-	2	1074	c.996C>T	c.(994-996)ttC>ttT	p.F332F	SOX7_ENST00000553390.1_Silent_p.F384F|SOX7_ENST00000554914.1_Silent_p.F384F	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	332	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.F332F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AATACTGGTCGAATTCATTGC	0.622																																					p.F332F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C996T	8						.						94.0	85.0	88.0					8																	10583419		2203	4300	6503	10620829	SO:0001819	synonymous_variant	83595	exon2			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.996C>T	8.37:g.10583419G>A			10620829	NM_031439	B4DKV0|Q53YD0	Silent	SNP	ENST00000304501.1	37	CCDS5977.1																																																																																				0.622	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1		
LRP12	29967	broad.mit.edu	37	8	105502936	105502936	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:105502936C>T	ENST00000276654.5	-	7	2653	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	LRP12_ENST00000424843.2_Missense_Mutation_p.E830K|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	849					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.E849K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCACTCGTTTCGTTTTTCAGT	0.413																																					p.E849K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2545A	8						.						143.0	130.0	134.0					8																	105502936		2203	4300	6503	105572112	SO:0001583	missense	29967	exon7			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2545G>A	8.37:g.105502936C>T	ENSP00000276654:p.Glu849Lys		105572112	NM_013437	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436298	0.83885	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.87650	-2.28;-2.21	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.90123	0.6914	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.972	D	0.90747	0.4654	10	0.62326	D	0.03	-26.9537	20.0817	0.97778	0.0:1.0:0.0:0.0	.	830;849	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	K	830;849;214	ENSP00000399148:E830K;ENSP00000276654:E849K	ENSP00000276654:E849K	E	-	1	0	LRP12	105572112	1.000000	0.71417	0.494000	0.27515	0.945000	0.59286	7.230000	0.78097	2.743000	0.94032	0.650000	0.86243	GAA		0.413	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
ZFPM2	23414	broad.mit.edu	37	8	106814961	106814961	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:106814961G>A	ENST00000407775.2	+	8	2901	c.2651G>A	c.(2650-2652)cGt>cAt	p.R884H	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R752H|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.R752H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R615H|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	884					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R884H(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCACATCAGCGTAATGACCTG	0.463																																					p.R884H												.	.	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)	c.G2651A	8						.						48.0	47.0	47.0					8																	106814961		1948	4147	6095	106884137	SO:0001583	missense	23414	exon8			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2651G>A	8.37:g.106814961G>A	ENSP00000384179:p.Arg884His		106884137	NM_012082	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	9.784	1.176009	0.21704	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19938	2.11;2.6;2.6;3.8	5.65	5.65	0.86999	.	0.055629	0.64402	D	0.000001	T	0.13970	0.0338	N	0.08118	0	0.50039	D	0.999847	B	0.13145	0.007	B	0.04013	0.001	T	0.10660	-1.0620	10	0.33141	T	0.24	.	19.7228	0.96150	0.0:0.0:1.0:0.0	.	884	Q8WW38	FOG2_HUMAN	H	884;752;752;615	ENSP00000384179:R884H;ENSP00000430757:R752H;ENSP00000428720:R752H;ENSP00000367733:R615H	ENSP00000367733:R615H	R	+	2	0	ZFPM2	106884137	1.000000	0.71417	0.927000	0.36925	0.978000	0.69477	6.355000	0.73041	2.667000	0.90743	0.655000	0.94253	CGT		0.463	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1		
OXR1	55074	broad.mit.edu	37	8	107719114	107719114	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:107719114G>T	ENST00000442977.2	+	8	1467	c.1368G>T	c.(1366-1368)gaG>gaT	p.E456D	OXR1_ENST00000445937.1_Missense_Mutation_p.E455D|OXR1_ENST00000517566.2_Missense_Mutation_p.E455D|OXR1_ENST00000312046.6_Missense_Mutation_p.E448D|OXR1_ENST00000531443.1_Missense_Mutation_p.E455D|OXR1_ENST00000497705.1_Missense_Mutation_p.E388D|OXR1_ENST00000452423.2_5'UTR	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	456					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.E367D(1)|p.E456D(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTCTTCATGAGAATTCGTTAC	0.353																																					p.E448D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1344T	8						.						68.0	68.0	68.0					8																	107719114		2203	4300	6503	107788290	SO:0001583	missense	55074	exon7			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1368G>T	8.37:g.107719114G>T	ENSP00000405424:p.Glu456Asp		107788290	NM_181354	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.843|2.843	-0.240085|-0.240085	0.05944|0.05944	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046|ENST00000519415	T;T;T;T;T;T|.	0.25912|.	2.65;2.65;2.64;2.64;1.77;2.64|.	5.62|5.62	2.78|2.78	0.32641|0.32641	.|.	0.831709|.	0.11163|.	N|.	0.592844|.	T|T	0.39384|0.39384	0.1076|0.1076	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B;B;B|.	0.14438|.	0.007;0.007;0.007;0.006;0.01|.	B;B;B;B;B|.	0.11329|.	0.006;0.003;0.003;0.006;0.006|.	T|T	0.29274|0.29274	-1.0017|-1.0017	10|5	0.25106|.	T|.	0.35|.	-17.4206|-17.4206	4.3546|4.3546	0.11172|0.11172	0.3046:0.0:0.5426:0.1528|0.3046:0.0:0.5426:0.1528	.|.	448;456;455;388;455|.	Q8N573-2;Q8N573;D3HIS6;Q8N573-3;Q8N573-5|.	.;OXR1_HUMAN;.;.;.|.	D|I	455;455;455;456;388;448|169	ENSP00000402918:E455D;ENSP00000431966:E455D;ENSP00000429205:E455D;ENSP00000405424:E456D;ENSP00000431014:E388D;ENSP00000311026:E448D|.	ENSP00000311026:E448D|.	E|R	+|+	3|2	2|0	OXR1|OXR1	107788290|107788290	0.001000|0.001000	0.12720|0.12720	0.018000|0.018000	0.16275|0.16275	0.029000|0.029000	0.11900|0.11900	0.244000|0.244000	0.18124|0.18124	0.706000|0.706000	0.31912|0.31912	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.353	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	
XKR6	286046	broad.mit.edu	37	8	10756221	10756221	+	Silent	SNP	G	G	A	rs373676910		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:10756221G>A	ENST00000416569.2	-	3	1193	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	XKR6_ENST00000304437.2_Silent_p.F110F	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	389						integral component of membrane (GO:0016021)		p.F389F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GAACCACCACGAAGATCCCAA	0.532																																					p.F389F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167T	8						.	G		0,4406		0,0,2203	93.0	87.0	89.0		1167	2.1	1.0	8		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XKR6	NM_173683.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		389/642	10756221	1,13005	2203	4300	6503	10793631	SO:0001819	synonymous_variant	286046	exon3			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1167C>T	8.37:g.10756221G>A			10793631	NM_173683	Q8TBA0	Silent	SNP	ENST00000416569.2	37	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	G	4.110	0.018460	0.07959	0.0	1.16E-4	ENSG00000171044	ENST00000382461	.	.	.	5.23	2.1	0.27182	.	.	.	.	.	T	0.55449	0.1921	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47328	-0.9126	4	.	.	.	1.0441	7.6928	0.28577	0.3836:0.0:0.6164:0.0	.	.	.	.	L	166	.	.	S	-	2	0	XKR6	10793631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.153000	0.42282	0.492000	0.27815	0.561000	0.74099	TCG		0.532	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683	
OXR1	55074	broad.mit.edu	37	8	107722932	107722932	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:107722932G>A	ENST00000442977.2	+	9	1809	c.1710G>A	c.(1708-1710)acG>acA	p.T570T	OXR1_ENST00000445937.1_Silent_p.T569T|OXR1_ENST00000517566.2_Silent_p.T569T|OXR1_ENST00000312046.6_Silent_p.T562T|OXR1_ENST00000531443.1_Silent_p.T569T|OXR1_ENST00000452423.2_Silent_p.T59T	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	570	Mediates oxidative antimutator activity.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.T570T(1)|p.T481T(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TGAGGAAAACGTTTGTATCTC	0.368																																					p.T562T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1686A	8						.						127.0	118.0	121.0					8																	107722932		2203	4300	6503	107792108	SO:0001819	synonymous_variant	55074	exon8			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1710G>A	8.37:g.107722932G>A			107792108	NM_181354	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	g	9.257	1.042169	0.19748	.	.	ENSG00000164830	ENST00000519415	.	.	.	5.85	-1.13	0.09775	.	.	.	.	.	T	0.50939	0.1645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41161	-0.9524	4	.	.	.	-16.5583	6.2013	0.20577	0.4606:0.347:0.1923:0.0	.	.	.	.	H	283	.	.	R	+	2	0	OXR1	107792108	0.751000	0.28327	0.998000	0.56505	0.990000	0.78478	-0.035000	0.12205	-0.099000	0.12263	-0.404000	0.06349	CGT		0.368	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	
TMEM74	157753	broad.mit.edu	37	8	109796543	109796543	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:109796543C>T	ENST00000297459.3	-	2	963	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	262					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.R262Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AAATCTGTTTCGACGATAGAG	0.507																																					p.R262Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.G785A	8						.						87.0	82.0	84.0					8																	109796543		2203	4300	6503	109865719	SO:0001583	missense	157753	exon2			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.785G>A	8.37:g.109796543C>T	ENSP00000297459:p.Arg262Gln		109865719	NM_153015		Missense_Mutation	SNP	ENST00000297459.3	37	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142467	0.94560	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.80054	-0.1543	9	0.72032	D	0.01	-10.8688	20.3404	0.98760	0.0:1.0:0.0:0.0	.	262	Q96NL1	TMM74_HUMAN	Q	262	.	ENSP00000297459:R262Q	R	-	2	0	TMEM74	109865719	1.000000	0.71417	0.201000	0.23476	0.988000	0.76386	6.085000	0.71343	2.812000	0.96745	0.637000	0.83480	CGA		0.507	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015	
TRHR	7201	broad.mit.edu	37	8	110100147	110100147	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:110100147C>A	ENST00000518632.1	+	2	757	c.406C>A	c.(406-408)Ctc>Atc	p.L136I	TRHR_ENST00000311762.2_Missense_Mutation_p.L136I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	136					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.L136I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AGCCCAGTTTCTCTGCACATT	0.403																																					p.L136I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C406A	8						.						130.0	109.0	116.0					8																	110100147		2203	4300	6503	110169323	SO:0001583	missense	7201	exon1				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.406C>A	8.37:g.110100147C>A	ENSP00000430711:p.Leu136Ile		110169323	NM_003301	Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348112	0.24426	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.71698	-0.59;-0.59	6.06	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.120410	0.56097	N	0.000022	T	0.55909	0.1950	N	0.20685	0.6	0.50039	D	0.999848	B	0.23128	0.08	B	0.26864	0.074	T	0.50890	-0.8774	10	0.21014	T	0.42	-11.6525	13.1462	0.59463	0.3205:0.6794:0.0:0.0	.	136	P34981	TRFR_HUMAN	I	136	ENSP00000430711:L136I;ENSP00000309818:L136I	ENSP00000309818:L136I	L	+	1	0	TRHR	110169323	0.996000	0.38824	0.999000	0.59377	0.991000	0.79684	2.757000	0.47557	1.510000	0.48803	0.655000	0.94253	CTC		0.403	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1		
TRHR	7201	broad.mit.edu	37	8	110100274	110100274	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:110100274C>T	ENST00000518632.1	+	2	884	c.533C>T	c.(532-534)tCc>tTc	p.S178F	TRHR_ENST00000311762.2_Missense_Mutation_p.S178F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	178					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)	p.S178F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATTGTGATATCCTGTGGCTAC	0.403																																					p.S178F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C533T	8						.						120.0	110.0	114.0					8																	110100274		2203	4300	6503	110169450	SO:0001583	missense	7201	exon1				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.533C>T	8.37:g.110100274C>T	ENSP00000430711:p.Ser178Phe		110169450	NM_003301	Q2M339	Missense_Mutation	SNP	ENST00000518632.1	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739166	0.49045	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.35421	1.31;1.31	6.17	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.395168	0.30446	N	0.009610	T	0.44973	0.1319	L	0.53729	1.69	0.36118	D	0.845305	P	0.48834	0.916	P	0.51055	0.657	T	0.55121	-0.8190	10	0.48119	T	0.1	-6.6518	13.8999	0.63797	0.4209:0.5791:0.0:0.0	.	178	P34981	TRFR_HUMAN	F	178	ENSP00000430711:S178F;ENSP00000309818:S178F	ENSP00000309818:S178F	S	+	2	0	TRHR	110169450	0.999000	0.42202	0.878000	0.34440	0.936000	0.57629	1.901000	0.39838	0.895000	0.36342	0.655000	0.94253	TCC		0.403	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1		
NUDCD1	84955	broad.mit.edu	37	8	110308765	110308765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:110308765G>A	ENST00000239690.4	-	3	681	c.307C>T	c.(307-309)Cga>Tga	p.R103*	NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.R74*|RP11-122A21.2_ENST00000504175.2_RNA	NM_032869.3	NP_116258.2			NudC domain containing 1									p.R103*(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GTAGGAAGTCGAAACACCTCT	0.398																																					p.R103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C307T	8						.						142.0	125.0	131.0					8																	110308765		2203	4300	6503	110377941	SO:0001587	stop_gained	84955	exon3			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.307C>T	8.37:g.110308765G>A	ENSP00000239690:p.Arg103*		110377941	NM_032869		Nonsense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	G	39	7.579865	0.98371	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	.	.	.	5.84	4.89	0.63831	.	0.059384	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1577	11.2235	0.48869	0.0:0.0:0.6515:0.3485	.	.	.	.	X	103;74	.	ENSP00000239690:R103X	R	-	1	2	NUDCD1	110377941	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.485000	0.45250	2.779000	0.95612	0.591000	0.81541	CGA		0.398	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869	
PKHD1L1	93035	broad.mit.edu	37	8	110452953	110452953	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:110452953C>A	ENST00000378402.5	+	33	4075	c.3971C>A	c.(3970-3972)tCt>tAt	p.S1324Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1324					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S1326Y(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATTAAATTCTTCAATACAG	0.348										HNSCC(38;0.096)																											p.S1324Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3971A	8						.						105.0	102.0	103.0					8																	110452953		1801	4069	5870	110522129	SO:0001583	missense	93035	exon33			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3971C>A	8.37:g.110452953C>A	ENSP00000367655:p.Ser1324Tyr		110522129	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297376	0.40694	.	.	ENSG00000205038	ENST00000378402	D	0.85955	-2.05	6.17	4.17	0.49024	Cell surface receptor IPT/TIG (1);Immunoglobulin-like fold (1);	0.466719	0.22280	N	0.062124	T	0.76758	0.4032	L	0.29908	0.895	0.23150	N	0.998213	P	0.43477	0.808	P	0.47346	0.544	T	0.66995	-0.5782	10	0.02654	T	1	.	8.8739	0.35334	0.0:0.7901:0.0:0.2099	.	1324	Q86WI1	PKHL1_HUMAN	Y	1324	ENSP00000367655:S1324Y	ENSP00000367655:S1324Y	S	+	2	0	PKHD1L1	110522129	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	1.401000	0.34589	1.627000	0.50400	0.655000	0.94253	TCT		0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	broad.mit.edu	37	8	110457666	110457666	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:110457666C>A	ENST00000378402.5	+	38	5672	c.5568C>A	c.(5566-5568)ttC>ttA	p.F1856L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1856	IPT/TIG 11.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.F1858L(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAATGGCTTCTATCCAGGCA	0.502										HNSCC(38;0.096)																											p.F1856L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C5568A	8						.						69.0	70.0	70.0					8																	110457666		1975	4161	6136	110526842	SO:0001583	missense	93035	exon38			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5568C>A	8.37:g.110457666C>A	ENSP00000367655:p.Phe1856Leu		110526842	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867200	0.51588	.	.	ENSG00000205038	ENST00000378402	D	0.83837	-1.77	5.91	2.14	0.27477	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85839	0.5790	L	0.50993	1.605	0.20764	N	0.999857	D	0.60160	0.987	D	0.77557	0.99	T	0.75958	-0.3134	10	0.54805	T	0.06	.	7.7673	0.28986	0.0:0.5814:0.0:0.4186	.	1856	Q86WI1	PKHL1_HUMAN	L	1856	ENSP00000367655:F1856L	ENSP00000367655:F1856L	F	+	3	2	PKHD1L1	110526842	0.007000	0.16637	0.212000	0.23672	0.898000	0.52572	0.012000	0.13287	0.117000	0.18138	-0.768000	0.03414	TTC		0.502	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
EBAG9	9166	broad.mit.edu	37	8	110567089	110567089	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:110567089G>T	ENST00000337573.5	+	4	594	c.294G>T	c.(292-294)atG>atT	p.M98I	EBAG9_ENST00000395785.2_Missense_Mutation_p.M98I|EBAG9_ENST00000531677.1_Missense_Mutation_p.M98I|EBAG9_ENST00000529502.1_3'UTR	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	98					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.M98I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TTAAGGACATGACACCAACTA	0.348																																					p.M98I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G294T	8						.						123.0	113.0	117.0					8																	110567089		2203	4300	6503	110636265	SO:0001583	missense	9166	exon4			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.294G>T	8.37:g.110567089G>T	ENSP00000337675:p.Met98Ile		110636265	NM_198120	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907214	0.92107	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.82412	0.5031	M	0.79475	2.455	0.80722	D	1	D	0.53745	0.962	D	0.66716	0.946	D	0.83818	0.0245	9	0.87932	D	0	7.8429	18.8249	0.92114	0.0:0.0:1.0:0.0	.	98	O00559	RCAS1_HUMAN	I	98;1;98;98;98	.	ENSP00000337675:M98I	M	+	3	0	EBAG9	110636265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.770000	0.95276	0.655000	0.94253	ATG		0.348	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215	
EBAG9	9166	broad.mit.edu	37	8	110576705	110576705	+	Missense_Mutation	SNP	G	G	A	rs200319904	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:110576705G>A	ENST00000337573.5	+	7	859	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	EBAG9_ENST00000395785.2_Missense_Mutation_p.E187K|EBAG9_ENST00000531677.1_Missense_Mutation_p.E232K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	187					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.E187K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GAGAGCAGCCGAACAACAAAG	0.333													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18307	0.001		0.0	False		,,,				2504	0.0				p.E187K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G559A	8						.						147.0	149.0	148.0					8																	110576705		2203	4300	6503	110645881	SO:0001583	missense	9166	exon7			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.559G>A	8.37:g.110576705G>A	ENSP00000337675:p.Glu187Lys		110645881	NM_198120	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	ENST00000337573.5	37	CCDS6313.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.7	4.189927	0.78789	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.64841	-0.6312	9	0.40728	T	0.16	-12.9893	15.179	0.72938	0.0:0.0:0.8579:0.1421	.	187	O00559	RCAS1_HUMAN	K	187;187;187;232	.	ENSP00000337675:E187K	E	+	1	0	EBAG9	110645881	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.714000	0.91412	1.461000	0.47929	0.655000	0.94253	GAA		0.333	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	NM_004215	
CSMD3	114788	broad.mit.edu	37	8	113668385	113668385	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:113668385T>G	ENST00000297405.5	-	18	3246	c.3002A>C	c.(3001-3003)gAa>gCa	p.E1001A	CSMD3_ENST00000455883.2_Missense_Mutation_p.E897A|CSMD3_ENST00000343508.3_Missense_Mutation_p.E961A|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1001A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1001	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1001A(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACTTACTTTCATAATGAAT	0.289										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																											p.E1001A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3002C	8						.						52.0	58.0	56.0					8																	113668385		2203	4300	6503	113737561	SO:0001583	missense	114788	exon18			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3002A>C	8.37:g.113668385T>G	ENSP00000297405:p.Glu1001Ala		113737561	NM_198123	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.647972	0.67358	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.28	5.28	0.74379	CUB (4);	0.000000	0.64402	D	0.000001	T	0.68504	0.3008	L	0.51853	1.615	0.44702	D	0.997699	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.85130	0.997;0.993;0.995	T	0.63301	-0.6668	10	0.14252	T	0.57	.	15.5066	0.75745	0.0:0.0:0.0:1.0	.	897;1001;961	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	961;1001;341;897;1001	ENSP00000345799:E961A;ENSP00000297405:E1001A;ENSP00000341558:E341A;ENSP00000412263:E897A;ENSP00000343124:E1001A	ENSP00000297405:E1001A	E	-	2	0	CSMD3	113737561	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.997000	0.88414	2.119000	0.64992	0.455000	0.32223	GAA		0.289	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TRPS1	7227	broad.mit.edu	37	8	116427138	116427138	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:116427138G>T	ENST00000220888.5	-	6	3118	c.2959C>A	c.(2959-2961)Cat>Aat	p.H987N	TRPS1_ENST00000519076.1_Missense_Mutation_p.H741N|TRPS1_ENST00000395715.3_Missense_Mutation_p.H1000N|TRPS1_ENST00000520276.1_Missense_Mutation_p.H991N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	987	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H987N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCAGTTAGATGATCTTCTGAC	0.498									Langer-Giedion syndrome																												p.H1000N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2998A	8						.						178.0	170.0	172.0					8																	116427138		1961	4148	6109	116496314	SO:0001583	missense	7227	exon7	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2959C>A	8.37:g.116427138G>T	ENSP00000220888:p.His987Asn		116496314	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.16|10.16	1.274203|1.274203	0.23221|0.23221	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.98313|.	-4.86;-4.83;-4.81;-4.83|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.48095|.	0.1481|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.19817|.	0.039;0.023;0.039|.	B;B;B|.	0.17722|.	0.019;0.008;0.019|.	T|.	0.42632|.	-0.9440|.	10|.	0.40728|.	T|.	0.16|.	.|.	20.0897|20.0897	0.97814|0.97814	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	991;987;1000|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	N|X	1000;987;741;991|111	ENSP00000379065:H1000N;ENSP00000220888:H987N;ENSP00000428910:H741N;ENSP00000428680:H991N|.	ENSP00000220888:H987N|.	H|S	-|-	1|2	0|0	TRPS1|TRPS1	116496314|116496314	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.808000|0.808000	0.45660|0.45660	3.760000|3.760000	0.55235|0.55235	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.498	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
TRPS1	7227	broad.mit.edu	37	8	116599306	116599306	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:116599306C>A	ENST00000220888.5	-	4	2742	c.2583G>T	c.(2581-2583)gaG>gaT	p.E861D	TRPS1_ENST00000519076.1_Missense_Mutation_p.E615D|TRPS1_ENST00000395715.3_Missense_Mutation_p.E874D|TRPS1_ENST00000519674.1_Missense_Mutation_p.E861D|TRPS1_ENST00000520276.1_Missense_Mutation_p.E865D			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	861					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E861D(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCCCAGACTTCTCTCCGCCAG	0.562									Langer-Giedion syndrome																												p.E874D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2622T	8						.						39.0	40.0	39.0					8																	116599306		1815	4072	5887	116668481	SO:0001583	missense	7227	exon5	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2583G>T	8.37:g.116599306C>A	ENSP00000220888:p.Glu861Asp		116668481	NM_014112	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	16.45	3.126525	0.56721	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98602	-5.02;-4.99;-4.97;-4.99;0.73	5.76	3.98	0.46160	.	0.051693	0.85682	D	0.000000	D	0.96602	0.8891	L	0.32530	0.975	0.35777	D	0.821393	P;P;D	0.55385	0.885;0.951;0.971	P;P;P	0.53062	0.57;0.525;0.717	D	0.96264	0.9193	10	0.42905	T	0.14	.	8.4987	0.33144	0.0:0.7106:0.0:0.2894	.	865;861;874	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	D	874;861;615;865;861	ENSP00000379065:E874D;ENSP00000220888:E861D;ENSP00000428910:E615D;ENSP00000428680:E865D;ENSP00000429174:E861D	ENSP00000220888:E861D	E	-	3	2	TRPS1	116668481	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	0.947000	0.29082	0.788000	0.33755	0.655000	0.94253	GAG		0.562	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
RAD21	5885	broad.mit.edu	37	8	117864206	117864206	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:117864206T>C	ENST00000297338.2	-	11	1738	c.1451A>G	c.(1450-1452)gAc>gGc	p.D484G	RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000523986.1_5'UTR|RAD21_ENST00000518055.1_Missense_Mutation_p.D29G	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	484	Pro-rich.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D484G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGGCTCTGGGTCAATTTGTCC	0.458																																					p.D484G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1451G	8						.						137.0	123.0	128.0					8																	117864206		2203	4300	6503	117933387	SO:0001583	missense	5885	exon11			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1451A>G	8.37:g.117864206T>C	ENSP00000297338:p.Asp484Gly		117933387	NM_006265	A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199491	0.58126	.	.	ENSG00000164754	ENST00000297338;ENST00000518055	T;T	0.65916	0.66;-0.18	5.71	5.71	0.89125	.	0.087235	0.85682	D	0.000000	T	0.57184	0.2036	L	0.51422	1.61	0.58432	D	0.999996	B	0.23316	0.083	B	0.20184	0.028	T	0.52815	-0.8525	10	0.25751	T	0.34	-17.336	15.9883	0.80179	0.0:0.0:0.0:1.0	.	484	O60216	RAD21_HUMAN	G	484;29	ENSP00000297338:D484G;ENSP00000428003:D29G	ENSP00000297338:D484G	D	-	2	0	RAD21	117933387	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	5.843000	0.69424	2.172000	0.68678	0.533000	0.62120	GAC		0.458	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1	NM_006265	
EXT1	2131	broad.mit.edu	37	8	118819496	118819496	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:118819496C>T	ENST00000378204.2	-	9	2649	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	615					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.D615N(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			ATGGAGTAGTCGTTCGTCCAC	0.502			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																												p.D615N		yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1843A	8						.						159.0	139.0	146.0					8																	118819496		2203	4300	6503	118888677	SO:0001583	missense	2131	exon9	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1843G>A	8.37:g.118819496C>T	ENSP00000367446:p.Asp615Asn		118888677	NM_000127	B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	c	35	5.522175	0.96416	.	.	ENSG00000182197	ENST00000378204	D	0.85955	-2.05	5.81	5.81	0.92471	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.89698	0.6790	M	0.62154	1.92	0.80722	D	1	P	0.51147	0.942	P	0.54270	0.747	D	0.89039	0.3447	10	0.51188	T	0.08	-13.6955	20.0656	0.97703	0.0:1.0:0.0:0.0	.	615	Q16394	EXT1_HUMAN	N	615	ENSP00000367446:D615N	ENSP00000367446:D615N	D	-	1	0	EXT1	118888677	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	7.814000	0.86154	2.752000	0.94435	0.555000	0.69702	GAC		0.502	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127	
SAMD12	401474	broad.mit.edu	37	8	119593078	119593078	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:119593078C>A	ENST00000314727.4	-	2	204	c.68G>T	c.(67-69)gGt>gTt	p.G23V	SAMD12_ENST00000409003.4_Missense_Mutation_p.G23V	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	23								p.G23V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CAGTTTAATACCTTCAGCATG	0.418																																					p.G23V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G68T	8						.						68.0	64.0	66.0					8																	119593078		2203	4300	6503	119662259	SO:0001583	missense	401474	exon2			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.68G>T	8.37:g.119593078C>A	ENSP00000314173:p.Gly23Val		119662259	NM_001101676	Q0P502	Missense_Mutation	SNP	ENST00000314727.4	37	CCDS6325.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.81|13.81|13.81	2.349640|2.349640|2.349640	0.41599|0.41599|0.41599	.|.|.	.|.|.	ENSG00000177570|ENSG00000177570|ENSG00000177570	ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328|ENST00000453675|ENST00000526765	.|.|.	.|.|.	.|.|.	5.32|5.32|5.32	5.32|5.32|5.32	0.75619|0.75619|0.75619	.|.|.	0.346172|.|.	0.29417|.|.	N|.|.	0.012214|.|.	T|T|T	0.53769|0.53769|0.53769	0.1817|0.1817|0.1817	N|N|N	0.24115|0.24115|0.24115	0.695|0.695|0.695	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.65815|.|.	0.994;0.995|.|.	P;P|.|.	0.57425|.|.	0.81;0.82|.|.	T|T|T	0.49428|0.49428|0.49428	-0.8941|-0.8941|-0.8941	8|5|5	.|.|.	.|.|.	.|.|.	-8.3107|-8.3107|-8.3107	16.775|16.775|16.775	0.85549|0.85549|0.85549	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	23;23|.|.	B8ZZB7;Q8N8I0|.|.	.;SAM12_HUMAN|.|.	V|S|L	23;15;23;23|19|38	.|.|.	.|.|.	G|R|V	-|-|-	2|3|1	0|2|0	SAMD12|SAMD12|SAMD12	119662259|119662259|119662259	0.988000|0.988000|0.988000	0.35896|0.35896|0.35896	0.994000|0.994000|0.994000	0.49952|0.49952|0.49952	0.043000|0.043000|0.043000	0.13939|0.13939|0.13939	2.297000|2.297000|2.297000	0.43593|0.43593|0.43593	2.500000|2.500000|2.500000	0.84329|0.84329|0.84329	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGT|AGG|GTA		0.418	SAMD12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132989.3	NM_207506	
TNFRSF11B	4982	broad.mit.edu	37	8	119945348	119945348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:119945348C>T	ENST00000297350.4	-	2	600	c.222G>A	c.(220-222)tgG>tgA	p.W74*		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	74					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.W74*(1)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTGGTGTGCCAGCTGTCTG	0.552																																					p.W74X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G222A	8						.						207.0	182.0	191.0					8																	119945348		2203	4300	6503	120014529	SO:0001587	stop_gained	4982	exon2			U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.222G>A	8.37:g.119945348C>T	ENSP00000297350:p.Trp74*		120014529	NM_002546	B2R9A8|O60236|Q53FX6|Q9UHP4	Nonsense_Mutation	SNP	ENST00000297350.4	37	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908953	0.72868	.	.	ENSG00000164761	ENST00000297350	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-35.6432	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	.	W	-	3	0	TNFRSF11B	120014529	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.268000	0.78473	2.941000	0.99782	0.655000	0.94253	TGG		0.552	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1		
MTBP	27085	broad.mit.edu	37	8	121528368	121528368	+	Missense_Mutation	SNP	G	G	A	rs574546258		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:121528368G>A	ENST00000305949.1	+	18	2228	c.2183G>A	c.(2182-2184)cGa>cAa	p.R728Q		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	728	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.R728Q(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AATGAACTTCGAACTGAAGTA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16604	0.0		0.0	False		,,,				2504	0.0				p.R728Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2183A	8						.						65.0	63.0	64.0					8																	121528368		2203	4299	6502	121597549	SO:0001583	missense	27085	exon18				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2183G>A	8.37:g.121528368G>A	ENSP00000303398:p.Arg728Gln		121597549	NM_022045	B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273076	0.59649	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.98	4.18	0.49190	.	0.140607	0.44688	D	0.000424	T	0.46190	0.1380	M	0.71581	2.175	0.09310	N	1	B	0.21071	0.051	B	0.17722	0.019	T	0.47649	-0.9101	9	0.72032	D	0.01	-3.0102	9.6219	0.39727	0.1027:0.2372:0.6601:0.0	.	728	Q96DY7	MTBP_HUMAN	Q	728	.	ENSP00000303398:R728Q	R	+	2	0	MTBP	121597549	0.002000	0.14202	0.007000	0.13788	0.010000	0.07245	1.024000	0.30077	0.848000	0.35191	-0.226000	0.12346	CGA		0.398	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045	
SNTB1	6641	broad.mit.edu	37	8	121551124	121551124	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:121551124A>G	ENST00000395601.3	-	8	2024	c.1610T>C	c.(1609-1611)gTg>gCg	p.V537A	MTBP_ENST00000519841.1_Intron|SNTB1_ENST00000517992.1_Missense_Mutation_p.V537A	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	537	Calmodulin-binding. {ECO:0000250}.|SU.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)		p.V537A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTTCAGGCCACCAAGCCCAG	0.478																																					p.V537A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1610C	8						.						94.0	86.0	89.0					8																	121551124		2203	4300	6503	121620305	SO:0001583	missense	6641	exon7			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1610T>C	8.37:g.121551124A>G	ENSP00000378965:p.Val537Ala		121620305	NM_021021	A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204822	0.79127	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.40476	1.03;1.03	5.85	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.40543	1.245	0.58432	D	0.999999	P	0.37985	0.613	B	0.38264	0.269	T	0.31971	-0.9924	10	0.72032	D	0.01	.	11.3444	0.49552	0.9297:0.0:0.0703:0.0	.	537	Q13884	SNTB1_HUMAN	A	537	ENSP00000378965:V537A;ENSP00000431124:V537A	ENSP00000378965:V537A	V	-	2	0	SNTB1	121620305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.527000	0.81931	2.229000	0.72834	0.533000	0.62120	GTG		0.478	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021	
HAS2	3037	broad.mit.edu	37	8	122626750	122626750	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:122626750T>G	ENST00000303924.4	-	4	1795	c.1258A>C	c.(1258-1260)Aaa>Caa	p.K420Q		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	420					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.K420Q(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAAGATGATTTTATGAGACCT	0.418																																					p.K420Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1258C	8						.						147.0	142.0	144.0					8																	122626750		2203	4300	6503	122695931	SO:0001583	missense	3037	exon4			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1258A>C	8.37:g.122626750T>G	ENSP00000306991:p.Lys420Gln		122695931	NM_005328	Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641016	0.67244	.	.	ENSG00000170961	ENST00000303924	T	0.50813	0.73	6.04	6.04	0.98038	.	0.039950	0.85682	D	0.000000	T	0.69771	0.3148	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72577	-0.4251	10	0.66056	D	0.02	-19.844	16.5763	0.84648	0.0:0.0:0.0:1.0	.	420	Q92819	HAS2_HUMAN	Q	420	ENSP00000306991:K420Q	ENSP00000306991:K420Q	K	-	1	0	HAS2	122695931	1.000000	0.71417	0.980000	0.43619	0.968000	0.65278	8.030000	0.88816	2.317000	0.78254	0.459000	0.35465	AAA		0.418	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328	
TBC1D31	93594	broad.mit.edu	37	8	124096454	124096454	+	Silent	SNP	G	G	A	rs146436284	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:124096454G>A	ENST00000287380.1	+	4	483	c.393G>A	c.(391-393)tcG>tcA	p.S131S	TBC1D31_ENST00000521676.1_Silent_p.S26S|TBC1D31_ENST00000327098.5_Silent_p.S131S|TBC1D31_ENST00000522420.1_Silent_p.S26S|TBC1D31_ENST00000309336.3_Silent_p.S131S|TBC1D31_ENST00000378080.2_Silent_p.S26S	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	131						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.S131S(1)									CAGTATTTTCGATCTCTGTGC	0.393																																					p.S131S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G393A	8						.	G	,	0,4406		0,0,2203	195.0	177.0	183.0		393,393	-11.5	0.0	8	dbSNP_134	183	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	WDR67	NM_001145088.1,NM_145647.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	131/971,131/1067	124096454	2,13004	2203	4300	6503	124165635	SO:0001819	synonymous_variant	93594	exon4			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.393G>A	8.37:g.124096454G>A			124165635	NM_145647	B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	CCDS6338.1																																																																																				0.393	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	
ATAD2	29028	broad.mit.edu	37	8	124340490	124340490	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:124340490A>G	ENST00000287394.5	-	25	3915	c.3808T>C	c.(3808-3810)Tgt>Cgt	p.C1270R	ATAD2_ENST00000521903.1_Missense_Mutation_p.C588R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1270					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.C1270R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTCCATTACAAGCAATCTTG	0.303																																					p.C1270R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3808C	8						.						80.0	76.0	78.0					8																	124340490		2203	4299	6502	124409671	SO:0001583	missense	29028	exon25			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3808T>C	8.37:g.124340490A>G	ENSP00000287394:p.Cys1270Arg		124409671	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	A	0.031	-1.331547	0.01298	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;T	0.91894	-2.93;1.49	5.32	4.13	0.48395	.	3.120320	0.00732	N	0.000957	D	0.90532	0.7033	L	0.58101	1.795	0.51233	D	0.99991	B	0.06786	0.001	B	0.06405	0.002	T	0.66488	-0.5911	10	0.14656	T	0.56	-0.9395	9.6299	0.39774	0.8247:0.1753:0.0:0.0	.	1270	Q6PL18	ATAD2_HUMAN	R	1270;588	ENSP00000287394:C1270R;ENSP00000429213:C588R	ENSP00000287394:C1270R	C	-	1	0	ATAD2	124409671	0.609000	0.26975	0.366000	0.25914	0.023000	0.10783	3.086000	0.50159	0.927000	0.37143	0.528000	0.53228	TGT		0.303	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
ATAD2	29028	broad.mit.edu	37	8	124383478	124383478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:124383478C>A	ENST00000287394.5	-	5	744	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	213					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E213*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATATTTACTTCTTCTGTTTCA	0.318																																					p.E213X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G637T	8						.						73.0	71.0	72.0					8																	124383478		2203	4300	6503	124452659	SO:0001587	stop_gained	29028	exon5			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.637G>T	8.37:g.124383478C>A	ENSP00000287394:p.Glu213*		124452659	NM_014109	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Nonsense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	36	5.601339	0.96614	.	.	ENSG00000156802	ENST00000287394	.	.	.	5.06	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-14.6767	10.7564	0.46239	0.0:0.8413:0.0:0.1587	.	.	.	.	X	213	.	ENSP00000287394:E213X	E	-	1	0	ATAD2	124452659	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.147000	0.31602	1.134000	0.42165	0.555000	0.69702	GAA		0.318	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
KLHL38	340359	broad.mit.edu	37	8	124664009	124664009	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:124664009G>T	ENST00000325995.7	-	1	1181	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	386								p.F386L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCCCGATGGAGAAGATGAAGT	0.562																																					p.F386L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1158A	8						.						67.0	67.0	67.0					8																	124664009		1986	4167	6153	124733190	SO:0001583	missense	340359	exon1				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1158C>A	8.37:g.124664009G>T	ENSP00000321475:p.Phe386Leu		124733190	NM_001081675	A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863123	0.32884	.	.	ENSG00000175946	ENST00000325995	T	0.77750	-1.12	5.18	3.39	0.38822	Kelch-type beta propeller (1);	0.045234	0.85682	D	0.000000	T	0.73721	0.3623	M	0.67397	2.05	0.38211	D	0.940487	B	0.27700	0.186	B	0.35688	0.208	T	0.70353	-0.4895	10	0.48119	T	0.1	.	4.2369	0.10630	0.3139:0.0:0.5252:0.1609	.	386	Q2WGJ6	KLH38_HUMAN	L	386	ENSP00000321475:F386L	ENSP00000321475:F386L	F	-	3	2	KLHL38	124733190	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.322000	0.33689	0.685000	0.31468	0.561000	0.74099	TTC		0.562	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1		
FER1L6	654463	broad.mit.edu	37	8	124978467	124978467	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:124978467G>A	ENST00000522917.1	+	5	527	c.321G>A	c.(319-321)gaG>gaA	p.E107E	FER1L6_ENST00000399018.1_Silent_p.E107E	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	107	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.E107E(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGACCATTGAGATTGGGGATG	0.488																																					p.E107E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G321A	8						.						98.0	98.0	98.0					8																	124978467		2071	4209	6280	125047648	SO:0001819	synonymous_variant	654463	exon5			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.321G>A	8.37:g.124978467G>A			125047648	NM_001039112		Silent	SNP	ENST00000522917.1	37	CCDS43767.1																																																																																				0.488	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	broad.mit.edu	37	8	125094625	125094625	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:125094625G>T	ENST00000522917.1	+	33	4523	c.4317G>T	c.(4315-4317)gaG>gaT	p.E1439D	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1439D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1439	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)		p.E1439D(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTATTGGTGAGACCAAGATCG	0.502																																					p.E1439D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4317T	8						.						203.0	212.0	209.0					8																	125094625		2203	4300	6503	125163806	SO:0001583	missense	654463	exon33			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4317G>T	8.37:g.125094625G>T	ENSP00000428280:p.Glu1439Asp		125163806	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983565	0.74474	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.71461	-0.57;-0.57	5.73	5.73	0.89815	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.82953	0.5149	M	0.80183	2.485	0.53005	D	0.999969	D	0.89917	1.0	D	0.91635	0.999	D	0.84155	0.0425	10	0.72032	D	0.01	-34.9504	10.0408	0.42158	0.1846:0.0:0.8154:0.0	.	1439	Q2WGJ9	FR1L6_HUMAN	D	1439	ENSP00000428280:E1439D;ENSP00000381982:E1439D	ENSP00000381982:E1439D	E	+	3	2	FER1L6	125163806	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.403000	0.34612	2.854000	0.98071	0.655000	0.94253	GAG		0.502	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
FER1L6	654463	broad.mit.edu	37	8	125131163	125131163	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:125131163C>T	ENST00000522917.1	+	40	5574	c.5368C>T	c.(5368-5370)Cca>Tca	p.P1790S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1790S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1790						integral component of membrane (GO:0016021)		p.P1790S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCGAAAGGAGCCAGAGCCCCT	0.498																																					p.P1790S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5368T	8						.						49.0	51.0	50.0					8																	125131163		1846	4103	5949	125200344	SO:0001583	missense	654463	exon40			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5368C>T	8.37:g.125131163C>T	ENSP00000428280:p.Pro1790Ser		125200344	NM_001039112		Missense_Mutation	SNP	ENST00000522917.1	37	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207290	0.95033	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.93488	-3.23;-3.23	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	D	0.97682	0.9240	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98194	1.0464	10	0.87932	D	0	-13.3743	19.8145	0.96560	0.0:1.0:0.0:0.0	.	1790	Q2WGJ9	FR1L6_HUMAN	S	1790	ENSP00000428280:P1790S;ENSP00000381982:P1790S	ENSP00000381982:P1790S	P	+	1	0	FER1L6	125200344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.756000	0.85195	2.683000	0.91414	0.563000	0.77884	CCA		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
TRMT12	55039	broad.mit.edu	37	8	125464052	125464052	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:125464052G>T	ENST00000328599.3	+	1	1005	c.884G>T	c.(883-885)aGa>aTa	p.R295I	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	295					tRNA processing (GO:0008033)		transferase activity (GO:0016740)	p.R295I(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAGATAACAGAAAACTGAAG	0.473																																					p.R295I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G884T	8						.						91.0	91.0	91.0					8																	125464052		2203	4300	6503	125533233	SO:0001583	missense	55039	exon1			AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.884G>T	8.37:g.125464052G>T	ENSP00000329858:p.Arg295Ile		125533233	NM_017956	Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738445	0.89573	.	.	ENSG00000183665	ENST00000328599	T	0.24350	1.86	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64491	-0.6395	10	0.87932	D	0	-17.896	17.076	0.86586	0.0:0.0:1.0:0.0	.	295	Q53H54	TYW2_HUMAN	I	295	ENSP00000329858:R295I	ENSP00000329858:R295I	R	+	2	0	TRMT12	125533233	1.000000	0.71417	0.744000	0.31058	0.952000	0.60782	8.857000	0.92250	2.712000	0.92718	0.561000	0.74099	AGA		0.473	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956	
GSDMC	56169	broad.mit.edu	37	8	130789763	130789763	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:130789763A>G	ENST00000276708.4	-	2	952	c.71T>C	c.(70-72)gTc>gCc	p.V24A		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	24						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)		p.V24A(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TAGGTATTTGACAGGTGTCAG	0.408																																					p.V24A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T71C	8						.						185.0	173.0	177.0					8																	130789763		2203	4300	6503	130858945	SO:0001583	missense	56169	exon2			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.71T>C	8.37:g.130789763A>G	ENSP00000276708:p.Val24Ala		130858945	NM_031415	Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	A	13.91	2.378801	0.42207	.	.	ENSG00000147697	ENST00000276708	T	0.52295	0.67	4.01	4.01	0.46588	.	0.736130	0.11990	N	0.509921	T	0.46580	0.1400	M	0.63843	1.955	0.09310	N	1	P	0.42785	0.79	B	0.40901	0.343	T	0.43750	-0.9372	10	0.62326	D	0.03	.	9.4933	0.38974	1.0:0.0:0.0:0.0	.	24	Q9BYG8	GSDMC_HUMAN	A	24	ENSP00000276708:V24A	ENSP00000276708:V24A	V	-	2	0	GSDMC	130858945	0.035000	0.19736	0.002000	0.10522	0.009000	0.06853	3.453000	0.52978	1.826000	0.53198	0.402000	0.26972	GTC		0.408	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1		
FAM49B	51571	broad.mit.edu	37	8	130874494	130874494	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:130874494G>A	ENST00000519824.2	-	5	555	c.282C>T	c.(280-282)taC>taT	p.Y94Y	FAM49B_ENST00000401979.2_Silent_p.Y94Y|FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000523509.1_Silent_p.Y94Y|FAM49B_ENST00000519540.1_Silent_p.Y94Y|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000519110.1_Silent_p.Y94Y|FAM49B_ENST00000522250.1_De_novo_Start_OutOfFrame|FAM49B_ENST00000517654.1_Silent_p.Y94Y|FAM49B_ENST00000522746.1_Silent_p.Y94Y	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	94						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)		p.Y94Y(1)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GAGAAAATTCGTAAAATTTCT	0.358																																					p.Y94Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C282T	8						.						84.0	86.0	85.0					8																	130874494		2203	4300	6503	130943676	SO:0001819	synonymous_variant	51571	exon8			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.282C>T	8.37:g.130874494G>A			130943676	NM_016623	Q96AZ5|Q9NW21|Q9NZE7	Silent	SNP	ENST00000519824.2	37	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	G	5.822	0.335943	0.11013	.	.	ENSG00000153310	ENST00000311292	.	.	.	5.56	0.494	0.16884	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-4.6068	9.0184	0.36184	0.7083:0.0:0.2917:0.0	.	.	.	.	X	49	.	ENSP00000311651:R49X	R	-	1	2	FAM49B	130943676	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	1.070000	0.30653	-0.065000	0.13021	-1.239000	0.01543	CGA		0.358	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623	
ASAP1	50807	broad.mit.edu	37	8	131414152	131414152	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:131414152G>A	ENST00000518721.1	-	2	265	c.38C>T	c.(37-39)tCg>tTg	p.S13L	ASAP1_ENST00000357668.1_Missense_Mutation_p.S13L|ASAP1_ENST00000520625.1_5'UTR	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	13					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.S13L(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGAATCTCTCGACGAAAAACT	0.512																																					p.S13L												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C38T	8						.						78.0	76.0	76.0					8																	131414152		2203	4300	6503	131483334	SO:0001583	missense	50807	exon1			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.38C>T	8.37:g.131414152G>A	ENSP00000429900:p.Ser13Leu		131483334	NM_018482	B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008735	0.54361	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.05925	3.37;3.37	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000009	T	0.13670	0.0331	N	0.22421	0.69	0.39934	D	0.974324	D	0.64830	0.994	P	0.61201	0.885	T	0.01982	-1.1235	10	0.59425	D	0.04	.	17.7407	0.88406	0.0:0.0:1.0:0.0	.	13	Q9ULH1	ASAP1_HUMAN	L	13	ENSP00000350297:S13L;ENSP00000429900:S13L	ENSP00000344591:S13L	S	-	2	0	ASAP1	131483334	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	5.893000	0.69798	2.781000	0.95711	0.555000	0.69702	TCG		0.512	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
ADCY8	114	broad.mit.edu	37	8	131792892	131792892	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:131792892G>A	ENST00000286355.5	-	18	5592	c.3500C>T	c.(3499-3501)aCg>aTg	p.T1167M	ADCY8_ENST00000377928.3_Missense_Mutation_p.T1036M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1167					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.T1167M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGAAAGTACGTTTTGATTTT	0.517										HNSCC(32;0.087)																											p.T1167M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3500T	8						.						196.0	204.0	201.0					8																	131792892		2203	4300	6503	131862074	SO:0001583	missense	114	exon18			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3500C>T	8.37:g.131792892G>A	ENSP00000286355:p.Thr1167Met		131862074	NM_001115		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846317	0.91277	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.82803	-1.65;-1.65	5.79	5.79	0.91817	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	D	0.92100	0.7496	M	0.82923	2.615	0.47511	D	0.999448	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92570	0.6065	10	0.87932	D	0	.	19.0195	0.92908	0.0:0.0:1.0:0.0	.	1036;1167	E7EVL1;P40145	.;ADCY8_HUMAN	M	1167;1036	ENSP00000286355:T1167M;ENSP00000367161:T1036M	ENSP00000286355:T1167M	T	-	2	0	ADCY8	131862074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.661000	0.98601	2.746000	0.94184	0.655000	0.94253	ACG		0.517	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
ADCY8	114	broad.mit.edu	37	8	131916094	131916094	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:131916094C>A	ENST00000286355.5	-	7	3927	c.1835G>T	c.(1834-1836)aGa>aTa	p.R612I	ADCY8_ENST00000377928.3_Missense_Mutation_p.R612I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	612					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.R612I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCACTGTTTCTCCGGTCTGA	0.478										HNSCC(32;0.087)																											p.R612I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1835T	8						.						105.0	94.0	98.0					8																	131916094		2203	4300	6503	131985276	SO:0001583	missense	114	exon7			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1835G>T	8.37:g.131916094C>A	ENSP00000286355:p.Arg612Ile		131985276	NM_001115		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051424	0.55218	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	T;T;T	0.80480	-1.32;-1.3;-1.38	6.17	6.17	0.99709	.	0.090793	0.64402	D	0.000001	T	0.76478	0.3993	L	0.47016	1.485	0.53688	D	0.999979	P;P	0.50617	0.937;0.838	B;B	0.38562	0.276;0.276	T	0.77233	-0.2663	10	0.42905	T	0.14	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	612;612	E7EVL1;P40145	.;ADCY8_HUMAN	I	612;612;227	ENSP00000286355:R612I;ENSP00000367161:R612I;ENSP00000428010:R227I	ENSP00000286355:R612I	R	-	2	0	ADCY8	131985276	1.000000	0.71417	0.998000	0.56505	0.236000	0.25371	7.116000	0.77119	2.941000	0.99782	0.655000	0.94253	AGA		0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
ADCY8	114	broad.mit.edu	37	8	131921974	131921974	+	Silent	SNP	G	G	A	rs373322573		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:131921974G>A	ENST00000286355.5	-	6	3712	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	ADCY8_ENST00000377928.3_Silent_p.L540L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	540					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.L540L(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCCAGATTCGAGTTTGTTTG	0.468										HNSCC(32;0.087)																											p.L540L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1620T	8						.	G		1,4405	2.1+/-5.4	0,1,2202	249.0	221.0	231.0		1620	-11.9	0.6	8		231	0,8600		0,0,4300	no	coding-synonymous	ADCY8	NM_001115.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		540/1252	131921974	1,13005	2203	4300	6503	131991156	SO:0001819	synonymous_variant	114	exon6			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1620C>T	8.37:g.131921974G>A			131991156	NM_001115		Silent	SNP	ENST00000286355.5	37	CCDS6363.1																																																																																				0.468	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
EFR3A	23167	broad.mit.edu	37	8	132957062	132957062	+	Missense_Mutation	SNP	G	G	A	rs143933422	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:132957062G>A	ENST00000254624.5	+	3	383	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	EFR3A_ENST00000334503.4_Missense_Mutation_p.R53Q|EFR3A_ENST00000519656.1_Missense_Mutation_p.R17Q	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	53						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)		p.R53Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AAACTGGATCGAATTGGTTCT	0.368													G|||	3	0.000599042	0.0	0.0029	5008	,	,		16280	0.0		0.0	False		,,,				2504	0.001				p.R53Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G158A	8						.						95.0	88.0	91.0					8																	132957062		2203	4299	6502	133026244	SO:0001583	missense	23167	exon3			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.158G>A	8.37:g.132957062G>A	ENSP00000254624:p.Arg53Gln		133026244	NM_015137	A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	ENST00000254624.5	37	CCDS34942.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	25.6	4.652860	0.88056	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.37407	-0.9707	10	0.87932	D	0	-10.3086	18.9014	0.92444	0.0:0.0:1.0:0.0	.	53	Q14156	EFR3A_HUMAN	Q	53;17;53;53;17	ENSP00000254624:R53Q;ENSP00000430512:R17Q;ENSP00000334769:R53Q;ENSP00000428086:R17Q	ENSP00000254624:R53Q	R	+	2	0	EFR3A	133026244	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	CGA		0.368	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318886.1	NM_015137	
KCNQ3	3786	broad.mit.edu	37	8	133182601	133182601	+	Silent	SNP	G	G	A	rs370250223		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:133182601G>A	ENST00000388996.4	-	8	1635	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	KCNQ3_ENST00000519445.1_Silent_p.V405V|KCNQ3_ENST00000521134.1_Silent_p.V285V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	405					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.V405V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GAAAAGAGACGACTGATTCAT	0.537																																					p.V405V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1215T	8						.	C	,	0,4406		0,0,2203	72.0	68.0	70.0		855,1215	-3.9	0.7	8		70	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	KCNQ3	NM_001204824.1,NM_004519.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	285/753,405/873	133182601	1,13005	2203	4300	6503	133251783	SO:0001819	synonymous_variant	3786	exon8			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1215C>T	8.37:g.133182601G>A			133251783	NM_004519	A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	CCDS34943.1																																																																																				0.537	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
KCNQ3	3786	broad.mit.edu	37	8	133184889	133184889	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:133184889T>G	ENST00000388996.4	-	7	1516	c.1096A>C	c.(1096-1098)Aag>Cag	p.K366Q	KCNQ3_ENST00000519445.1_Missense_Mutation_p.K366Q|KCNQ3_ENST00000521134.1_Missense_Mutation_p.K246Q	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	366					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.K366Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCAAAGTGCTTCTGACGGTGT	0.567																																					p.K366Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1096C	8						.						219.0	163.0	182.0					8																	133184889		2203	4300	6503	133254071	SO:0001583	missense	3786	exon7			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1096A>C	8.37:g.133184889T>G	ENSP00000373648:p.Lys366Gln		133254071	NM_004519	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919807	0.73098	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99194	-5.52;-5.47;-5.54	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	M	0.86651	2.83	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.99078	1.0836	10	0.87932	D	0	-26.7047	14.1935	0.65654	0.0:0.0:0.0:1.0	.	366;366	E7ET42;O43525	.;KCNQ3_HUMAN	Q	366;246;366;355;245	ENSP00000373648:K366Q;ENSP00000429799:K246Q;ENSP00000428790:K366Q	ENSP00000373648:K366Q	K	-	1	0	KCNQ3	133254071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.954000	0.87848	2.002000	0.58637	0.496000	0.49642	AAG		0.567	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
PHF20L1	51105	broad.mit.edu	37	8	133826884	133826884	+	Silent	SNP	G	G	A	rs79154195		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:133826884G>A	ENST00000395386.2	+	10	1232	c.933G>A	c.(931-933)gcG>gcA	p.A311A	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Silent_p.A286A	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	311							zinc ion binding (GO:0008270)	p.A285A(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ttattCAGGCGATTTCACCTA	0.323																																					p.A311A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G933A	8						.						43.0	47.0	46.0					8																	133826884		2202	4299	6501	133896066	SO:0001819	synonymous_variant	51105	exon10			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.933G>A	8.37:g.133826884G>A			133896066	NM_032205	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	CCDS6367.2																																																																																				0.323	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
TG	7038	broad.mit.edu	37	8	133898917	133898917	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:133898917T>G	ENST00000220616.4	+	9	1340	c.1300T>G	c.(1300-1302)Tct>Gct	p.S434A	TG_ENST00000377869.1_Missense_Mutation_p.S434A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	434					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S434A(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAACAGTTTTCTGTCTCAGA	0.527																																					p.S434A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1300G	8						.						93.0	100.0	98.0					8																	133898917		2203	4300	6503	133968099	SO:0001583	missense	7038	exon9			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1300T>G	8.37:g.133898917T>G	ENSP00000220616:p.Ser434Ala		133968099	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	4.942	0.175070	0.09391	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.62941	-0.01;-0.0	5.81	-4.57	0.03421	.	1.341620	0.04709	N	0.417334	T	0.55081	0.1898	L	0.57536	1.79	0.09310	N	1	B	0.22480	0.07	B	0.19148	0.024	T	0.47129	-0.9141	10	0.39692	T	0.17	.	9.3825	0.38322	0.0:0.4014:0.4458:0.1528	.	434	P01266	THYG_HUMAN	A	434	ENSP00000367100:S434A;ENSP00000220616:S434A	ENSP00000220616:S434A	S	+	1	0	TG	133968099	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.797000	0.04570	-0.815000	0.04346	0.533000	0.62120	TCT		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
DLC1	10395	broad.mit.edu	37	8	13357043	13357043	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:13357043C>T	ENST00000276297.4	-	2	947	c.538G>A	c.(538-540)Gag>Aag	p.E180K	DLC1_ENST00000316609.5_Missense_Mutation_p.E180K|DLC1_ENST00000511869.1_Missense_Mutation_p.E180K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	180					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.E180K(2)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACTTTTCTCTCCCCACTTTCT	0.388																																					p.E180K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G538A	8						.						120.0	126.0	124.0					8																	13357043		2203	4299	6502	13401414	SO:0001583	missense	10395	exon2			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.538G>A	8.37:g.13357043C>T	ENSP00000276297:p.Glu180Lys		13401414	NM_182643	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	8.855	0.945449	0.18356	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.30981	1.51;1.51;1.51	5.12	3.34	0.38264	.	0.152719	0.30528	N	0.009428	T	0.21674	0.0522	L	0.41824	1.3	0.09310	N	1	B;B;B	0.33637	0.037;0.42;0.0	B;B;B	0.28465	0.028;0.09;0.001	T	0.11817	-1.0572	10	0.22109	T	0.4	.	11.995	0.53196	0.0:0.8018:0.0:0.1982	.	180;180;180	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	K	180	ENSP00000276297:E180K;ENSP00000321034:E180K;ENSP00000425878:E180K	ENSP00000276297:E180K	E	-	1	0	DLC1	13401414	0.077000	0.21312	0.019000	0.16419	0.018000	0.09664	1.415000	0.34748	1.554000	0.49487	-0.119000	0.15052	GAG		0.388	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094	
TG	7038	broad.mit.edu	37	8	133899044	133899044	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:133899044T>G	ENST00000220616.4	+	9	1467	c.1427T>G	c.(1426-1428)tTt>tGt	p.F476C	TG_ENST00000377869.1_Missense_Mutation_p.F476C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	476					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.F476C(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGGGAAATTTTTGGTGAAT	0.478																																					p.F476C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1427G	8						.						72.0	77.0	75.0					8																	133899044		2203	4300	6503	133968226	SO:0001583	missense	7038	exon9			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1427T>G	8.37:g.133899044T>G	ENSP00000220616:p.Phe476Cys		133968226	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.701211	0.68501	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.74632	-0.86;-0.83	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	D	0.84179	0.5415	M	0.76002	2.32	0.41578	D	0.988723	D	0.89917	1.0	D	0.73380	0.98	D	0.86098	0.1554	10	0.87932	D	0	.	10.5429	0.45043	0.1441:0.0:0.0:0.8559	.	476	P01266	THYG_HUMAN	C	476	ENSP00000367100:F476C;ENSP00000220616:F476C	ENSP00000220616:F476C	F	+	2	0	TG	133968226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.446000	0.66600	2.212000	0.71576	0.528000	0.53228	TTT		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
TG	7038	broad.mit.edu	37	8	134108557	134108557	+	Silent	SNP	C	C	T	rs374133544		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:134108557C>T	ENST00000220616.4	+	43	7552	c.7512C>T	c.(7510-7512)gtC>gtT	p.V2504V	SLA_ENST00000518565.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000517648.1_Intron|TG_ENST00000377869.1_Silent_p.V2447V|TG_ENST00000519543.1_Silent_p.V637V|SLA_ENST00000395352.3_Intron|TG_ENST00000542445.1_Silent_p.V874V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2504					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.V2504V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGTAGAGGTCGATCTGCTCA	0.582																																					p.V2504V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C7512T	8						.	C	,,	0,4406		0,0,2203	157.0	153.0	154.0		,,7512	-10.1	0.3	8		154	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,coding-synonymous	SLA,TG	NM_001045556.2,NM_001045557.2,NM_003235.4	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,,2504/2769	134108557	1,13005	2203	4300	6503	134177739	SO:0001819	synonymous_variant	7038	exon43			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7512C>T	8.37:g.134108557C>T			134177739	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	7.281	0.609167	0.14066	0.0	1.16E-4	ENSG00000042832	ENST00000519178	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8715	0.52523	0.0:0.5785:0.1591:0.2625	.	.	.	.	X	960	.	.	R	+	1	2	TG	134177739	0.212000	0.23540	0.335000	0.25508	0.714000	0.41099	-1.437000	0.02419	-2.838000	0.00336	-0.119000	0.15052	CGA		0.582	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
COL22A1	169044	broad.mit.edu	37	8	139601538	139601538	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:139601538G>A	ENST00000303045.6	-	65	5285	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.F1593F	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1613					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.F1613F(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAAGGCTGGCGAAGTAGGCAC	0.602										HNSCC(7;0.00092)																											p.F1613F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4839T	8						.						42.0	42.0	42.0					8																	139601538		2203	4300	6503	139670720	SO:0001819	synonymous_variant	169044	exon65			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4839C>T	8.37:g.139601538G>A			139670720	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				0.602	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
TOP1MT	116447	broad.mit.edu	37	8	144407551	144407551	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:144407551C>G	ENST00000329245.4	-	5	670	c.636G>C	c.(634-636)agG>agC	p.R212S	TOP1MT_ENST00000521193.1_Missense_Mutation_p.R114S|TOP1MT_ENST00000523676.1_Missense_Mutation_p.R114S|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R114S	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	212					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CTGGCGTGATCCTTCTCTTCA	0.602																																					p.R212S												.	.	0			c.G636C	8						.						84.0	76.0	79.0					8																	144407551		2202	4300	6502	144478926	SO:0001583	missense	116447	exon5			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.636G>C	8.37:g.144407551C>G	ENSP00000328835:p.Arg212Ser		144478926	NM_052963	B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.468831	0.26335	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	3.72	-7.44	0.01379	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.000000	0.50627	U	0.000107	T	0.71821	0.3385	H	0.95816	3.725	0.21915	N	0.999479	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63386	-0.6649	10	0.87932	D	0	-24.9532	1.1443	0.01772	0.214:0.3211:0.1055:0.3594	.	7;212	E7ESI1;Q969P6	.;TOP1M_HUMAN	S	212;114;114;114;114;114	ENSP00000328835:R212S;ENSP00000428369:R114S;ENSP00000429169:R114S;ENSP00000429181:R114S;ENSP00000427998:R114S;ENSP00000429177:R114S	ENSP00000328835:R212S	R	-	3	2	TOP1MT	144478926	0.689000	0.27690	0.000000	0.03702	0.000000	0.00434	-0.350000	0.07721	-1.946000	0.01035	-1.166000	0.01754	AGG		0.602	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963	
ZNF623	9831	broad.mit.edu	37	8	144732601	144732601	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:144732601G>T	ENST00000501748.2	+	1	648	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	ZNF623_ENST00000526926.1_Missense_Mutation_p.D147Y|ZNF623_ENST00000458270.2_Missense_Mutation_p.D147Y	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D187Y(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGTGGGAAAGACTTCATTCA	0.483																																					p.D187Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G559T	8						.						100.0	84.0	89.0					8																	144732601		2203	4300	6503	144803744	SO:0001583	missense	9831	exon1			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.559G>T	8.37:g.144732601G>T	ENSP00000445979:p.Asp187Tyr		144803744	NM_014789	A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864057	0.51482	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.17054	2.3;2.3;2.3	4.19	3.26	0.37387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16471	0.0396	N	0.21194	0.64	0.20638	N	0.999875	P	0.48503	0.911	P	0.52267	0.694	T	0.10177	-1.0641	9	0.62326	D	0.03	-4.7623	3.9749	0.09470	0.1346:0.0:0.6363:0.229	.	187	O75123	ZN623_HUMAN	Y	147;147;147;187;187	ENSP00000435232:D147Y;ENSP00000411139:D147Y;ENSP00000445979:D187Y	ENSP00000330358:D147Y	D	+	1	0	ZNF623	144803744	0.000000	0.05858	0.936000	0.37596	0.840000	0.47671	-0.044000	0.12023	1.013000	0.39391	0.655000	0.94253	GAC		0.483	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789	
ZNF623	9831	broad.mit.edu	37	8	144733336	144733336	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:144733336G>A	ENST00000501748.2	+	1	1383	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	ZNF623_ENST00000526926.1_Missense_Mutation_p.E392K|ZNF623_ENST00000458270.2_Missense_Mutation_p.E392K	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E432K(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGCCCTTCGAATGTAAAGA	0.488																																					p.E432K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1294A	8						.						93.0	89.0	90.0					8																	144733336		2203	4300	6503	144804479	SO:0001583	missense	9831	exon1			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1294G>A	8.37:g.144733336G>A	ENSP00000445979:p.Glu432Lys		144804479	NM_014789	A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256824	0.39896	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.35605	1.3;1.3;2.16	4.12	3.24	0.37175	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14527	0.0351	N	0.05031	-0.125	0.09310	N	1	B	0.25743	0.133	B	0.16722	0.016	T	0.15065	-1.0450	9	0.17832	T	0.49	-22.3035	4.5861	0.12282	0.1128:0.0:0.6667:0.2204	.	432	O75123	ZN623_HUMAN	K	392;392;392;432;432	ENSP00000435232:E392K;ENSP00000411139:E392K;ENSP00000445979:E432K	ENSP00000330358:E392K	E	+	1	0	ZNF623	144804479	0.000000	0.05858	0.995000	0.50966	0.971000	0.66376	-0.524000	0.06222	2.289000	0.77006	0.491000	0.48974	GAA		0.488	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789	
PARP10	84875	broad.mit.edu	37	8	145059487	145059487	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:145059487C>T	ENST00000313028.7	-	5	777	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	PARP10_ENST00000525773.1_Missense_Mutation_p.R240Q|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Missense_Mutation_p.R228Q	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	228					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R228Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ctgcaacactcgttctgccac	0.612																																					p.R228Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G683A	8						.						22.0	25.0	24.0					8																	145059487		2202	4299	6501	145131475	SO:0001583	missense	84875	exon5			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.683G>A	8.37:g.145059487C>T	ENSP00000325618:p.Arg228Gln		145131475	NM_032789	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.724234	0.30593	.	.	ENSG00000178685	ENST00000524918;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.34275	2.86;2.85;2.85;1.37	3.92	2.06	0.26882	.	0.000000	0.40818	N	0.001017	T	0.28267	0.0698	M	0.79258	2.445	0.24190	N	0.995552	P;P;P	0.44946	0.846;0.663;0.663	B;B;B	0.30401	0.115;0.068;0.068	T	0.32025	-0.9922	10	0.48119	T	0.1	.	4.9102	0.13818	0.2076:0.6771:0.0:0.1153	.	240;228;228	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	Q	228;228;240;143	ENSP00000431620:R228Q;ENSP00000325618:R228Q;ENSP00000434776:R240Q;ENSP00000314320:R143Q	ENSP00000325618:R228Q	R	-	2	0	PARP10	145131475	0.000000	0.05858	0.615000	0.29064	0.236000	0.25371	0.370000	0.20433	0.166000	0.19597	0.450000	0.29827	CGA		0.612	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789	
ZNF7	7553	broad.mit.edu	37	8	146067469	146067469	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:146067469G>T	ENST00000528372.1	+	5	1217	c.977G>T	c.(976-978)aGa>aTa	p.R326I	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R337I|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.R230I|ZNF7_ENST00000325241.6_Missense_Mutation_p.R326I			P17097	ZNF7_HUMAN	zinc finger protein 7	326					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R326I(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		CACCATCAGAGAATCCACACA	0.517																																					p.R326I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G977T	8						.						62.0	61.0	61.0					8																	146067469		2203	4300	6503	146038273	SO:0001583	missense	7553	exon5			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.977G>T	8.37:g.146067469G>T	ENSP00000432724:p.Arg326Ile		146038273	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	ENST00000528372.1	37	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932678	0.52866	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.04	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000146	T	0.50854	0.1640	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.52931	-0.8509	9	.	.	.	-27.6824	10.8322	0.46667	0.0875:0.0:0.9125:0.0	.	337;326	B4DT08;P17097	.;ZNF7_HUMAN	I	326;337;230;326	ENSP00000320627:R326I;ENSP00000393260:R337I;ENSP00000439424:R230I;ENSP00000432724:R326I	.	R	+	2	0	ZNF7	146038273	0.000000	0.05858	0.991000	0.47740	0.325000	0.28411	0.003000	0.13083	2.629000	0.89072	0.555000	0.69702	AGA		0.517	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416	
ZNF16	7564	broad.mit.edu	37	8	146157255	146157255	+	Silent	SNP	C	C	T	rs542521845		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:146157255C>T	ENST00000276816.4	-	4	1104	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ZNF16_ENST00000394909.2_Silent_p.S306S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	306	Required for nuclear localization.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S306S(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTTTAAGGCTCGAGTTCTGGC	0.473																																					p.S306S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G918A	8						.						71.0	71.0	71.0					8																	146157255		2203	4300	6503	146128059	SO:0001819	synonymous_variant	7564	exon3			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.918G>A	8.37:g.146157255C>T			146128059	NM_006958	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Silent	SNP	ENST00000276816.4	37	CCDS6437.1																																																																																				0.473	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958	
MYOM2	9172	broad.mit.edu	37	8	2077163	2077163	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:2077163G>A	ENST00000262113.4	+	32	3884	c.3743G>A	c.(3742-3744)cGa>cAa	p.R1248Q	MYOM2_ENST00000523438.1_Missense_Mutation_p.R673Q	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1248					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R1248Q(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGGAATACGACTTCAGTGT	0.458																																					p.R1248Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3743A	8						.						85.0	81.0	82.0					8																	2077163		2203	4300	6503	2064570	SO:0001583	missense	9172	exon32				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3743G>A	8.37:g.2077163G>A	ENSP00000262113:p.Arg1248Gln		2064570	NM_003970	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	g	12.28	1.891669	0.33442	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.36157	1.27;1.27	5.6	3.82	0.43975	Immunoglobulin-like fold (1);	0.057139	0.64402	D	0.000001	T	0.35158	0.0922	M	0.61703	1.905	0.09310	N	1	B	0.19445	0.036	B	0.12156	0.007	T	0.26087	-1.0113	10	0.46703	T	0.11	.	11.4777	0.50308	0.1488:0.0:0.8512:0.0	.	1248	P54296	MYOM2_HUMAN	Q	1248;673	ENSP00000262113:R1248Q;ENSP00000428396:R673Q	ENSP00000262113:R1248Q	R	+	2	0	MYOM2	2064570	0.880000	0.30214	0.020000	0.16555	0.440000	0.31957	4.996000	0.63914	0.725000	0.32318	0.537000	0.68136	CGA		0.458	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSMD1	64478	broad.mit.edu	37	8	2836281	2836281	+	Missense_Mutation	SNP	G	G	A	rs267601889		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:2836281G>A	ENST00000520002.1	-	56	8977	c.8422C>T	c.(8422-8424)Cgt>Tgt	p.R2808C	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2807C|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2750C|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2749C|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2750C|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2808C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2808	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2807C(1)|p.R2536C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCCGTGACGAATGGCATTT	0.403																																					p.S2807L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C8420T	8						.						73.0	66.0	68.0					8																	2836281		1875	4100	5975	2823688	SO:0001583	missense	64478	exon55					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8422C>T	8.37:g.2836281G>A	ENSP00000430733:p.Arg2808Cys		2823688	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.13|15.13	2.741359|2.741359	0.49151|0.49151	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.65364|.	-0.15;-0.15;-0.15;-0.15|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88051|0.88051	0.6333|0.6333	H|H	0.95982|0.95982	3.75|3.75	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.987;0.999|.	D|D	0.92067|0.92067	0.5661|0.5661	10|5	0.42905|.	T|.	0.14|.	.|.	18.4932|18.4932	0.90855|0.90855	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2808;2808;2749|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	C|L	2750;2808;2669;2807;2749|2224	ENSP00000383047:R2750C;ENSP00000430733:R2808C;ENSP00000441462:R2807C;ENSP00000446243:R2749C|.	ENSP00000320445:R2669C|.	R|S	-|-	1|2	0|0	CSMD1|CSMD1	2823688|2823688	1.000000|1.000000	0.71417|0.71417	0.205000|0.205000	0.23548|0.23548	0.525000|0.525000	0.34531|0.34531	4.022000|4.022000	0.57203|0.57203	2.354000|2.354000	0.79902|0.79902	0.563000|0.563000	0.77884|0.77884	CGT|TCG		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	2886844	2886844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:2886844G>A	ENST00000520002.1	-	52	8410	c.7855C>T	c.(7855-7857)Cga>Tga	p.R2619*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.R2618*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.R2619*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.R2618*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.R2619*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.R2619*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2619	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.R2347*(1)|p.R2618*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACTTACCTCGACAGCTTGGC	0.522																																					p.S2618L												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C7853T	8						.						105.0	105.0	105.0					8																	2886844		2040	4183	6223	2874251	SO:0001587	stop_gained	64478	exon51					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7855C>T	8.37:g.2886844G>A	ENSP00000430733:p.Arg2619*		2874251	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.751321|15.751321	0.99844|0.99844	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	4.88|4.88	-0.495|-0.495	0.12030|0.12030	.|.	0.294229|.	0.26082|.	N|.	0.026456|.	.|T	.|0.44705	.|0.1306	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41910	.|-0.9482	.|4	0.15066|.	T|.	0.55|.	.|.	14.2913|14.2913	0.66281|0.66281	0.0:0.0:0.5561:0.4439|0.0:0.0:0.5561:0.4439	.|.	.|.	.|.	.|.	X|L	2619;2619;2480;2618;2618|2035	.|.	ENSP00000320445:R2480X|.	R|S	-|-	1|2	2|0	CSMD1|CSMD1	2874251|2874251	0.969000|0.969000	0.33509|0.33509	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	2.342000|2.342000	0.43992|0.43992	-0.220000|-0.220000	0.09988|0.09988	-0.467000|-0.467000	0.05162|0.05162	CGA|TCG		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CSMD1	64478	broad.mit.edu	37	8	3081268	3081268	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:3081268G>A	ENST00000520002.1	-	29	5025	c.4470C>T	c.(4468-4470)atC>atT	p.I1490I	CSMD1_ENST00000537824.1_Silent_p.I1489I|CSMD1_ENST00000400186.3_Silent_p.I1490I|CSMD1_ENST00000542608.1_Silent_p.I1489I|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Silent_p.I1490I|CSMD1_ENST00000539096.1_Silent_p.I1489I|CSMD1_ENST00000602557.1_Silent_p.I1490I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1490	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.I1489I(1)|p.I1218I(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATATCAAGGCGATGACAAAGT	0.428																																					p.R1490C												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C4468T	8						.						109.0	109.0	109.0					8																	3081268		1854	4087	5941	3068675	SO:0001819	synonymous_variant	64478	exon28					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4470C>T	8.37:g.3081268G>A			3068675	NM_033225	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	8.248	0.808274	0.16467	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.08	-10.2	0.00374	.	.	.	.	.	T	0.60983	0.2311	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72721	-0.4208	4	.	.	.	.	16.1069	0.81230	0.4382:0.0:0.5618:0.0	.	.	.	.	C	970	.	.	R	-	1	0	CSMD1	3068675	0.961000	0.32948	0.386000	0.26170	0.921000	0.55340	0.250000	0.18235	-2.422000	0.00563	-1.314000	0.01303	CGC		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
MCPH1	79648	broad.mit.edu	37	8	6500519	6500519	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:6500519C>A	ENST00000344683.5	+	14	2533	c.2457C>A	c.(2455-2457)tcC>tcA	p.S819S	MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000527490.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA|CTD-2541M15.1_ENST00000525186.1_RNA	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	819	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.S819S(1)	AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CTCTAGATTCCATCACCCAGC	0.428																																					p.S819S	Colon(95;1448 1467 8277 34473 35819)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2457A	8						.						112.0	106.0	108.0					8																	6500519		1935	4149	6084	6487927	SO:0001819	synonymous_variant	79648	exon14			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.2457C>A	8.37:g.6500519C>A			6487927	NM_024596	B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	ENST00000344683.5	37	CCDS43689.1																																																																																				0.428	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	
MICU3	286097	broad.mit.edu	37	8	16935352	16935352	+	Nonsense_Mutation	SNP	C	C	T	rs150021056		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:16935352C>T	ENST00000318063.5	+	4	670	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	210						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.R210*(2)									GAAGCTATTTCGAAATCTTAA	0.303																																					p.R210X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|skin(1)	c.C628T	8						.	C	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	66.0	62.0	63.0		628	3.0	1.0	8	dbSNP_134	63	0,8598		0,0,4299	yes	stop-gained	EFHA2	NM_181723.2		0,2,6500	TT,TC,CC		0.0,0.0454,0.0154		210/531	16935352	2,13002	2203	4299	6502	16979723	SO:0001587	stop_gained	286097	exon4			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"""EF-hand domain containing"""	27820	protein-coding gene	gene with protein product		610633	"""EF hand domain family A2"", ""EF-hand domain family, member A2"""	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.628C>T	8.37:g.16935352C>T	ENSP00000321455:p.Arg210*		16979723	NM_181723	Q8IYZ3	Nonsense_Mutation	SNP	ENST00000318063.5	37	CCDS5999.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.028534|3.028534	0.54790|0.54790	4.54E-4|4.54E-4	0.0|0.0	ENSG00000155970|ENSG00000155970	ENST00000318063|ENST00000517398	.|.	.|.	.|.	4.88|4.88	3.05|3.05	0.35203|0.35203	.|.	0.148150|.	0.46758|.	D|.	0.000269|.	.|T	.|0.51500	.|0.1678	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59386	.|-0.7464	.|3	0.07644|.	T|.	0.81|.	-27.3167|-27.3167	9.9373|9.9373	0.41559|0.41559	0.1382:0.7888:0.0:0.073|0.1382:0.7888:0.0:0.073	.|.	.|.	.|.	.|.	X|L	210|49	.|.	ENSP00000321455:R210X|.	R|S	+|+	1|2	2|0	EFHA2|EFHA2	16979723|16979723	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.792000|0.792000	0.44763|0.44763	3.275000|3.275000	0.51639|0.51639	0.564000|0.564000	0.29238|0.29238	-0.535000|-0.535000	0.04281|0.04281	CGA|TCG		0.303	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214031.1	NM_181723	
CNOT7	29883	broad.mit.edu	37	8	17102580	17102580	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:17102580G>A	ENST00000361272.4	-	2	380	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	VPS37A_ENST00000521005.1_5'Flank|VPS37A_ENST00000324849.4_5'Flank|CNOT7_ENST00000518885.1_5'UTR|VPS37A_ENST00000324815.3_5'Flank|CNOT7_ENST00000523917.1_Missense_Mutation_p.R28C|VPS37A_ENST00000521829.1_5'Flank	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	28					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.R28C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		ATAACTTGACGAATTTTCTTC	0.388																																					p.R28C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C82T	8						.						78.0	75.0	76.0					8																	17102580		2203	4300	6503	17146951	SO:0001583	missense	29883	exon2			L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.82C>T	8.37:g.17102580G>A	ENSP00000355279:p.Arg28Cys		17146951	NM_013354	A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933367	0.73442	.	.	ENSG00000198791	ENST00000361272;ENST00000523917;ENST00000524358;ENST00000520178	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.68	4.68	0.58851	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.90759	3.145	0.80722	D	1	B;B	0.29766	0.128;0.256	B;B	0.29077	0.037;0.098	T	0.54146	-0.8337	10	0.72032	D	0.01	-9.4008	18.4661	0.90755	0.0:0.0:1.0:0.0	.	28;28	G3V108;Q9UIV1	.;CNOT7_HUMAN	C	28	ENSP00000355279:R28C;ENSP00000429093:R28C;ENSP00000430160:R28C;ENSP00000429079:R28C	ENSP00000355279:R28C	R	-	1	0	CNOT7	17146951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.543000	0.85770	0.585000	0.79938	CGT		0.388	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354	
MTMR7	9108	broad.mit.edu	37	8	17188750	17188750	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:17188750C>A	ENST00000180173.5	-	7	808	c.774G>T	c.(772-774)gaG>gaT	p.E258D	MTMR7_ENST00000521857.1_Missense_Mutation_p.E258D	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	258	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.E258D(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TGTCTTCATTCTCATAGCCTT	0.393																																					p.E258D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G774T	8						.						188.0	160.0	170.0					8																	17188750		2203	4300	6503	17233121	SO:0001583	missense	9108	exon7			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.774G>T	8.37:g.17188750C>A	ENSP00000180173:p.Glu258Asp		17233121	NM_004686	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063064	0.76187	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.94687	-3.49;-3.49	4.84	3.97	0.46021	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.98210	0.9408	H	0.99156	4.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97431	1.0015	10	0.87932	D	0	.	8.1636	0.31213	0.0:0.7734:0.0:0.2266	.	258;258	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	D	258	ENSP00000180173:E258D;ENSP00000429733:E258D	ENSP00000180173:E258D	E	-	3	2	MTMR7	17233121	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	0.167000	0.16602	1.413000	0.46997	0.655000	0.94253	GAG		0.393	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	
SLC7A2	6542	broad.mit.edu	37	8	17409495	17409495	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:17409495G>A	ENST00000494857.1	+	7	1273	c.1055G>A	c.(1054-1056)aGt>aAt	p.S352N	SLC7A2_ENST00000470360.1_Splice_Site_p.S392N|SLC7A2_ENST00000522656.1_Splice_Site_p.S352N|SLC7A2_ENST00000004531.10_Splice_Site_p.S392N|SLC7A2_ENST00000398090.3_Splice_Site_p.S392N	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	352					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.S392N(1)|p.S352N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGTCAACAAGGTACATTGCA	0.458																																					p.S352N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1055A	8						.						71.0	71.0	71.0					8																	17409495		2203	4300	6503	17453873	SO:0001630	splice_region_variant	6542	exon6			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1055+1G>A	8.37:g.17409495G>A			17453873	NM_001008539	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348303	0.95807	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59	5.26	5.26	0.73747	Amino acid permease domain (1);	0.211378	0.56097	D	0.000029	D	0.95828	0.8642	M	0.92507	3.315	0.80722	D	1	P;P;D	0.71674	0.906;0.917;0.998	P;P;D	0.68765	0.582;0.477;0.96	D	0.96482	0.9357	10	0.72032	D	0.01	.	19.2416	0.93887	0.0:0.0:1.0:0.0	.	392;392;352	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	N	352;352;392;392;392	ENSP00000419140:S352N;ENSP00000430464:S352N;ENSP00000419873:S392N;ENSP00000004531:S392N;ENSP00000381164:S392N	ENSP00000004531:S392N	S	+	2	0	SLC7A2	17453873	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.869000	0.99810	2.621000	0.88768	0.655000	0.94253	AGT		0.458	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046	Missense_Mutation
SH2D4A	63898	broad.mit.edu	37	8	19218760	19218760	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:19218760T>C	ENST00000265807.3	+	6	1052	c.641T>C	c.(640-642)aTa>aCa	p.I214T	SH2D4A_ENST00000519207.1_Missense_Mutation_p.I214T|SH2D4A_ENST00000518040.1_Missense_Mutation_p.I169T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	214					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)	p.I214T(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ATAAATCAAATAGAAGAAGAG	0.348																																					p.I169T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T506C	8						.						61.0	62.0	61.0					8																	19218760		2203	4300	6503	19263040	SO:0001583	missense	63898	exon5			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.641T>C	8.37:g.19218760T>C	ENSP00000265807:p.Ile214Thr		19263040	NM_001174160	B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	T	2.946	-0.217906	0.06101	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207;ENST00000523736	T;D;T;T	0.94376	2.71;-3.41;2.71;2.69	5.61	0.369	0.16151	.	1.497000	0.03527	N	0.221878	D	0.86715	0.5999	L	0.32530	0.975	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.002	T	0.71823	-0.4476	10	0.10636	T	0.68	.	3.2782	0.06906	0.17:0.2859:0.0:0.5441	.	169;214	B4DDR1;Q9H788	.;SH24A_HUMAN	T	214;169;214;173	ENSP00000265807:I214T;ENSP00000429482:I169T;ENSP00000428684:I214T;ENSP00000428048:I173T	ENSP00000265807:I214T	I	+	2	0	SH2D4A	19263040	0.000000	0.05858	0.165000	0.22776	0.387000	0.30353	-0.424000	0.07025	0.107000	0.17824	0.533000	0.62120	ATA		0.348	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071	
LPL	4023	broad.mit.edu	37	8	19809337	19809337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:19809337G>T	ENST00000311322.8	+	3	777	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	103					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.E103*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GTACAAGAGAGAACCAGACTC	0.517																																					p.E103X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G307T	8						.						213.0	196.0	201.0					8																	19809337		2203	4300	6503	19853617	SO:0001587	stop_gained	4023	exon3				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.307G>T	8.37:g.19809337G>T	ENSP00000309757:p.Glu103*		19853617	NM_000237	B2R5T9|Q16282|Q16283|Q96FC4	Nonsense_Mutation	SNP	ENST00000311322.8	37	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	35	5.467724	0.96257	.	.	ENSG00000175445	ENST00000520959;ENST00000524029;ENST00000522701;ENST00000311322;ENST00000538071;ENST00000535763	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	-33.2133	17.4668	0.87634	0.0:0.0:1.0:0.0	.	.	.	.	X	27;103;103;103;27;89	.	.	E	+	1	0	LPL	19853617	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	9.688000	0.98670	2.725000	0.93324	0.460000	0.39030	GAA		0.517	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		
SLC18A1	6570	broad.mit.edu	37	8	20007219	20007219	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:20007219C>T	ENST00000276373.5	-	12	1380	c.1114G>A	c.(1114-1116)Ggg>Agg	p.G372R	SLC18A1_ENST00000519026.1_Missense_Mutation_p.G340R|SLC18A1_ENST00000440926.1_Missense_Mutation_p.G372R|SLC18A1_ENST00000381608.4_Missense_Mutation_p.G372R|SLC18A1_ENST00000437980.1_Missense_Mutation_p.G372R|SLC18A1_ENST00000265808.7_Missense_Mutation_p.G340R	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	372					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.G372R(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ACCAGCATCCCGATTAGGGAA	0.542																																					p.G372R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1114A	8						.						82.0	82.0	82.0					8																	20007219		2203	4300	6503	20051499	SO:0001583	missense	6570	exon12				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1114G>A	8.37:g.20007219C>T	ENSP00000276373:p.Gly372Arg		20051499	NM_003053	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873258	0.72180	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;D;D;D;T;D	0.84589	-0.25;-1.87;-1.87;-1.87;-0.25;-1.87	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051961	0.85682	D	0.000000	D	0.94503	0.8230	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.95115	0.8241	10	0.87932	D	0	-17.0792	18.8623	0.92278	0.0:1.0:0.0:0.0	.	372;340;372	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	R	340;372;372;372;340;372	ENSP00000265808:G340R;ENSP00000276373:G372R;ENSP00000387549:G372R;ENSP00000413361:G372R;ENSP00000429664:G340R;ENSP00000371021:G372R	ENSP00000265808:G340R	G	-	1	0	SLC18A1	20051499	1.000000	0.71417	0.995000	0.50966	0.228000	0.25075	7.525000	0.81892	2.793000	0.96121	0.655000	0.94253	GGG		0.542	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1		
FGF17	8822	broad.mit.edu	37	8	21903619	21903619	+	Intron	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:21903619G>A	ENST00000359441.3	+	3	575				FGF17_ENST00000521709.1_Intron|FGF17_ENST00000518533.1_Intron	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17						cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.?(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CTTGGTAACCGCAAAGGGGGA	0.557																																					.												.	.	1	Unknown(1)	large_intestine(1)	.	8						.						48.0	52.0	51.0					8																	21903619		2203	4300	6503	21959565	SO:0001627	intron_variant	8822	.			AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.73-6G>A	8.37:g.21903619G>A			21959565	.	B7ZLG4|Q2M2W1	Missense_Mutation	SNP	ENST00000359441.3	37	CCDS6019.1																																																																																				0.557	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214154.2	NM_003867	
PIWIL2	55124	broad.mit.edu	37	8	22161626	22161626	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:22161626G>A	ENST00000454009.2	+	11	1783	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R425H|PIWIL2_ENST00000356766.6_Missense_Mutation_p.R425H	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	425	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.R425H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TATAACAATCGTACCTATCGT	0.398																																					p.R425H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1274A	8						.						192.0	157.0	169.0					8																	22161626		2203	4300	6503	22217571	SO:0001583	missense	55124	exon11			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1274G>A	8.37:g.22161626G>A	ENSP00000406956:p.Arg425His		22217571	NM_018068	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381755	0.61845	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.11495	2.77;2.77;2.77	5.87	4.99	0.66335	Argonaute/Dicer protein, PAZ (4);	0.048691	0.85682	D	0.000000	T	0.10465	0.0256	L	0.52266	1.64	0.80722	D	1	B;B	0.31910	0.346;0.268	B;B	0.23852	0.049;0.033	T	0.02167	-1.1202	10	0.62326	D	0.03	-16.8437	10.564	0.45163	0.138:0.0:0.862:0.0	.	425;425	E7ECA4;Q8TC59	.;PIWL2_HUMAN	H	425	ENSP00000349208:R425H;ENSP00000428267:R425H;ENSP00000406956:R425H	ENSP00000349208:R425H	R	+	2	0	PIWIL2	22217571	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	5.122000	0.64697	2.941000	0.99782	0.655000	0.94253	CGT		0.398	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
ADAM28	10863	broad.mit.edu	37	8	24177758	24177758	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:24177758G>T	ENST00000265769.4	+	7	696	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.D196Y|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	196					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D196Y(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAATTGAAAGACAGGAAGGT	0.303																																					p.D196Y	NSCLC(193;488 2149 22258 34798 40734)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G586T	8						.						81.0	88.0	86.0					8																	24177758		2203	4295	6498	24233703	SO:0001583	missense	10863	exon7			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.586G>T	8.37:g.24177758G>T	ENSP00000265769:p.Asp196Tyr		24233703	NM_021777	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973856	0.34848	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.01947	4.76;4.54	4.96	3.17	0.36434	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.19300	N	0.999979	D;D	0.71674	0.998;0.98	P;P	0.60173	0.87;0.844	T	0.51803	-0.8659	9	0.48119	T	0.1	.	7.3506	0.26689	0.1958:0.0:0.8042:0.0	.	196;196	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	Y	196	ENSP00000265769:D196Y;ENSP00000393699:D196Y	ENSP00000265769:D196Y	D	+	1	0	ADAM28	24233703	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	0.219000	0.17641	0.795000	0.33922	0.655000	0.94253	GAC		0.303	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ADAM28	10863	broad.mit.edu	37	8	24181432	24181432	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:24181432C>T	ENST00000265769.4	+	9	916	c.806C>T	c.(805-807)gCa>gTa	p.A269V	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.A269V|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.A16V|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.A36V|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	269	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A269V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACCCCAAATGCAAGCTTCACC	0.378																																					p.A269V	NSCLC(193;488 2149 22258 34798 40734)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C806T	8						.						114.0	115.0	115.0					8																	24181432		2203	4299	6502	24237377	SO:0001583	missense	10863	exon9			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.806C>T	8.37:g.24181432C>T	ENSP00000265769:p.Ala269Val		24237377	NM_021777	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372531	0.42003	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.41	4.53	0.55603	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.18341	0.0440	M	0.74881	2.28	0.42349	D	0.992362	P;D;B	0.54047	0.571;0.964;0.082	B;P;B	0.47673	0.285;0.554;0.053	T	0.00752	-1.1581	9	0.40728	T	0.16	.	10.5778	0.45238	0.0:0.9078:0.0:0.0922	.	36;269;269	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	V	269;16;36;269	ENSP00000265769:A269V;ENSP00000380770:A16V;ENSP00000443743:A36V;ENSP00000393699:A269V	ENSP00000265769:A269V	A	+	2	0	ADAM28	24237377	0.955000	0.32602	0.990000	0.47175	0.088000	0.18126	2.891000	0.48617	2.532000	0.85374	0.650000	0.86243	GCA		0.378	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ADAM7	8756	broad.mit.edu	37	8	24300024	24300024	+	Missense_Mutation	SNP	C	C	T	rs137990671		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:24300024C>T	ENST00000175238.6	+	2	174	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R31C|ADAM7_ENST00000441335.2_Missense_Mutation_p.R31C|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	31			R -> C (in a cutaneous metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:21618342}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R31C(3)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACAACTGGTTCGTCCTAAAAA	0.403																																					p.R31C												.	.	3	Substitution - Missense(3)	skin(2)|large_intestine(1)	c.C91T	8						.						218.0	213.0	214.0					8																	24300024		2203	4300	6503	24355969	SO:0001583	missense	8756	exon2			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.91C>T	8.37:g.24300024C>T	ENSP00000175238:p.Arg31Cys		24355969	NM_003817	A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288825	0.23478	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.06218	3.33;3.33;3.33	4.23	-3.21	0.05140	Peptidase M12B, propeptide (1);	1.206810	0.06086	N	0.662833	T	0.04861	0.0131	L	0.31476	0.935	0.09310	N	0.999991	P;P	0.40970	0.62;0.734	B;B	0.38056	0.264;0.264	T	0.36720	-0.9736	10	0.56958	D	0.05	.	5.4785	0.16710	0.0:0.4546:0.1549:0.3905	.	31;31	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	C	31	ENSP00000393073:R31C;ENSP00000175238:R31C;ENSP00000370166:R31C	ENSP00000175238:R31C	R	+	1	0	ADAM7	24355969	0.949000	0.32298	0.046000	0.18839	0.331000	0.28603	0.223000	0.17719	-0.591000	0.05859	0.557000	0.71058	CGT		0.403	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817	
DOCK5	80005	broad.mit.edu	37	8	25154087	25154087	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:25154087G>A	ENST00000276440.7	+	7	573	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	DOCK5_ENST00000481100.1_Missense_Mutation_p.E177K	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	177					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E177K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACCCTGACGAAACCAGCAC	0.502																																					p.E177K	Pancreas(145;34 1887 3271 10937 30165)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G529A	8						.						115.0	96.0	103.0					8																	25154087		2203	4300	6503	25210004	SO:0001583	missense	80005	exon7				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.529G>A	8.37:g.25154087G>A	ENSP00000276440:p.Glu177Lys		25210004	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	3.968	-0.008986	0.07727	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.55930	0.49;0.49	5.65	3.81	0.43845	.	0.448064	0.23844	N	0.044020	T	0.29190	0.0726	N	0.12182	0.205	0.29821	N	0.830847	B	0.02656	0.0	B	0.04013	0.001	T	0.14254	-1.0479	10	0.06365	T	0.9	.	11.8148	0.52204	0.0667:0.1227:0.8106:0.0	.	177	Q9H7D0	DOCK5_HUMAN	K	177	ENSP00000429737:E177K;ENSP00000276440:E177K	ENSP00000276440:E177K	E	+	1	0	DOCK5	25210004	0.999000	0.42202	1.000000	0.80357	0.526000	0.34562	1.758000	0.38410	1.604000	0.50143	0.655000	0.94253	GAA		0.502	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
DOCK5	80005	broad.mit.edu	37	8	25200015	25200015	+	Missense_Mutation	SNP	G	G	A	rs527517185		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:25200015G>A	ENST00000276440.7	+	25	2653	c.2609G>A	c.(2608-2610)cGa>cAa	p.R870Q		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	870					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R870Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACTCTTTTTCGACAGTCAGGT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		15628	0.0		0.0	False		,,,				2504	0.001				p.R870Q	Pancreas(145;34 1887 3271 10937 30165)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2609A	8						.						98.0	78.0	84.0					8																	25200015		2203	4300	6503	25255932	SO:0001583	missense	80005	exon25				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2609G>A	8.37:g.25200015G>A	ENSP00000276440:p.Arg870Gln		25255932	NM_024940	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.583825	0.28268	.	.	ENSG00000147459	ENST00000276440	T	0.34667	1.35	4.58	-5.57	0.02521	.	0.711024	0.13924	N	0.353346	T	0.19805	0.0476	L	0.29908	0.895	0.27958	N	0.9369	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.18209	-1.0344	10	0.23891	T	0.37	.	9.7826	0.40658	0.7776:0.0:0.1079:0.1145	.	860;645;870	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	Q	870	ENSP00000276440:R870Q	ENSP00000276440:R870Q	R	+	2	0	DOCK5	25255932	0.633000	0.27181	0.468000	0.27192	0.006000	0.05464	0.169000	0.16641	-0.979000	0.03529	-0.262000	0.10625	CGA		0.473	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
ADRA1A	148	broad.mit.edu	37	8	26722229	26722229	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:26722229G>A	ENST00000519229.1	-	1	264	c.258C>T	c.(256-258)ttC>ttT	p.F86F	ADRA1A_ENST00000380573.3_Silent_p.F86F|ADRA1A_ENST00000276393.4_Silent_p.F86F|ADRA1A_ENST00000380581.2_Silent_p.F86F|ADRA1A_ENST00000358857.5_Silent_p.F86F|ADRA1A_ENST00000380572.3_Silent_p.F86F|ADRA1A_ENST00000380587.1_Silent_p.F86F|ADRA1A_ENST00000354550.4_Silent_p.F86F|ADRA1A_ENST00000380582.3_Silent_p.F86F|ADRA1A_ENST00000380586.1_Silent_p.F86F			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	156					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)	p.F86F(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTAGGACCTCGAAGATGGCGG	0.622																																					p.F86F												.	.	5	Substitution - coding silent(5)	large_intestine(5)	c.C258T	8						.						147.0	145.0	146.0					8																	26722229		2203	4300	6503	26778146	SO:0001819	synonymous_variant	148	exon1			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.258C>T	8.37:g.26722229G>A			26778146	NM_033302	Q9NPY0	Silent	SNP	ENST00000519229.1	37																																																																																					0.622	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303	
CCDC25	55246	broad.mit.edu	37	8	27614247	27614247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:27614247G>A	ENST00000356537.4	-	4	250	c.157C>T	c.(157-159)Cga>Tga	p.R53*	snoU13_ENST00000459268.1_RNA|CCDC25_ENST00000539095.1_Intron|CCDC25_ENST00000522915.1_Intron|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	53						extracellular vesicular exosome (GO:0070062)		p.R53*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TTATGTAATCGAAGGTATACA	0.368																																					p.R53X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C157T	8						.						96.0	92.0	93.0					8																	27614247		1891	4120	6011	27670166	SO:0001587	stop_gained	55246	exon4			AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.157C>T	8.37:g.27614247G>A	ENSP00000348933:p.Arg53*		27670166	NM_018246	Q0P663|Q96SI2|Q9NV98	Nonsense_Mutation	SNP	ENST00000356537.4	37	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645208	0.87859	.	.	ENSG00000147419	ENST00000356537	.	.	.	5.71	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1953	12.8836	0.58030	0.079:0.0:0.921:0.0	.	.	.	.	X	53	.	ENSP00000348933:R53X	R	-	1	2	CCDC25	27670166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.407000	0.66363	1.567000	0.49668	0.650000	0.86243	CGA		0.368	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246	
ESCO2	157570	broad.mit.edu	37	8	27634658	27634658	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:27634658G>A	ENST00000305188.8	+	3	1071	c.833G>A	c.(832-834)aGc>aAc	p.S278N	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	278					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)	p.S278N(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CTGAGTGCAAGCAGTAAAAAT	0.313									SC Phocomelia syndrome																												p.S278N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G833A	8						.						36.0	39.0	38.0					8																	27634658		2200	4295	6495	27690577	SO:0001583	missense	157570	exon3	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.833G>A	8.37:g.27634658G>A	ENSP00000306999:p.Ser278Asn		27690577	NM_001017420	B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	G	4.768	0.142751	0.09083	.	.	ENSG00000171320	ENST00000305188	T	0.63744	-0.06	5.34	0.388	0.16264	.	0.829451	0.11128	N	0.596650	T	0.45856	0.1363	L	0.29908	0.895	0.26220	N	0.97916	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.001	T	0.29274	-1.0017	10	0.33141	T	0.24	-3.5688	8.1542	0.31158	0.4326:0.0:0.5674:0.0	.	278;278	E5RFE4;Q56NI9	.;ESCO2_HUMAN	N	278	ENSP00000306999:S278N	ENSP00000306999:S278N	S	+	2	0	ESCO2	27690577	0.984000	0.35163	0.372000	0.25991	0.065000	0.16274	0.734000	0.26101	0.001000	0.14605	-0.225000	0.12378	AGC		0.313	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420	
FZD3	7976	broad.mit.edu	37	8	28409221	28409221	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:28409221G>T	ENST00000240093.3	+	6	1984	c.1506G>T	c.(1504-1506)aaG>aaT	p.K502N	FZD3_ENST00000537916.1_Missense_Mutation_p.K502N	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	502					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.K502N(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GAAGCAAAAAGACATGCTTTG	0.373																																					p.K502N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1506T	8						.						133.0	127.0	129.0					8																	28409221		2203	4300	6503	28465140	SO:0001583	missense	7976	exon5			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1506G>T	8.37:g.28409221G>T	ENSP00000240093:p.Lys502Asn		28465140	NM_145866	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808594	0.70797	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.84516	-1.86;-1.86	5.17	3.33	0.38152	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.92954	0.7758	M	0.92970	3.365	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.92418	0.5943	10	0.87932	D	0	.	9.4902	0.38955	0.2474:0.0:0.7526:0.0	.	502	Q9NPG1	FZD3_HUMAN	N	502	ENSP00000437489:K502N;ENSP00000240093:K502N	ENSP00000240093:K502N	K	+	3	2	FZD3	28465140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.779000	0.55379	0.647000	0.30713	0.585000	0.79938	AAG		0.373	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
EXTL3	2137	broad.mit.edu	37	8	28574244	28574244	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:28574244G>A	ENST00000220562.4	+	3	1570	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	223					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.R223Q(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCGACAGCACGAGCTAACGTT	0.542																																					p.R223Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G668A	8						.						99.0	98.0	98.0					8																	28574244		2203	4300	6503	28630163	SO:0001583	missense	2137	exon3			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.668G>A	8.37:g.28574244G>A	ENSP00000220562:p.Arg223Gln		28630163	NM_001440	D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053974	0.36277	.	.	ENSG00000012232	ENST00000220562	D	0.95069	-3.6	4.89	4.89	0.63831	.	0.055150	0.64402	D	0.000001	D	0.89357	0.6692	L	0.27053	0.805	0.38540	D	0.94919	B	0.29766	0.256	B	0.21546	0.035	D	0.87684	0.2549	10	0.18276	T	0.48	-6.4447	18.1323	0.89605	0.0:0.0:1.0:0.0	.	223	O43909	EXTL3_HUMAN	Q	223	ENSP00000220562:R223Q	ENSP00000220562:R223Q	R	+	2	0	EXTL3	28630163	1.000000	0.71417	0.900000	0.35374	0.390000	0.30446	7.039000	0.76544	2.286000	0.76751	0.485000	0.47835	CGA		0.542	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440	
INTS9	55756	broad.mit.edu	37	8	28654129	28654129	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:28654129A>C	ENST00000521022.1	-	9	869	c.788T>G	c.(787-789)cTg>cGg	p.L263R	INTS9_ENST00000416984.2_Missense_Mutation_p.L242R|INTS9_ENST00000397363.4_Missense_Mutation_p.L157R|INTS9_ENST00000521777.1_Missense_Mutation_p.L239R|RP11-662B19.2_ENST00000520055.1_RNA	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	263					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)		p.L263R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AAGCCCTGTCAGAACAAGAAC	0.443																																					p.L242R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T725G	8						.						144.0	126.0	132.0					8																	28654129		2203	4300	6503	28710048	SO:0001583	missense	55756	exon8			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.788T>G	8.37:g.28654129A>C	ENSP00000429065:p.Leu263Arg		28710048	NM_001145159	B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324349	0.81580	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363;ENST00000523436	T;T;T;T;T	0.50548	0.75;0.75;0.76;0.74;0.79	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	T	0.66896	0.2836	M	0.76328	2.33	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.992	D;D;D	0.69654	0.926;0.965;0.923	T	0.69680	-0.5080	10	0.52906	T	0.07	-16.5243	13.9779	0.64284	1.0:0.0:0.0:0.0	.	242;263;263	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	R	263;242;107;239;157;218	ENSP00000429065:L263R;ENSP00000398208:L242R;ENSP00000430943:L239R;ENSP00000380520:L157R;ENSP00000427789:L218R	ENSP00000380520:L157R	L	-	2	0	INTS9	28710048	1.000000	0.71417	0.979000	0.43373	0.753000	0.42808	9.047000	0.93823	2.036000	0.60181	0.482000	0.46254	CTG		0.443	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250	
HMBOX1	79618	broad.mit.edu	37	8	28876382	28876382	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:28876382G>A	ENST00000397358.3	+	7	1507	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	HMBOX1_ENST00000403668.2_Missense_Mutation_p.R268Q|HMBOX1_ENST00000524238.1_Missense_Mutation_p.R268Q|HMBOX1_ENST00000519047.1_Missense_Mutation_p.R268Q|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R268Q|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R268Q|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R268Q|HMBOX1_ENST00000444075.1_Missense_Mutation_p.R268Q|HMBOX1_ENST00000287701.10_Missense_Mutation_p.R268Q	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	268					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R268Q(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CGACTGCGACGAGGGAGTCGA	0.498																																					p.R268Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G803A	8						.						134.0	118.0	124.0					8																	28876382		2203	4300	6503	28932301	SO:0001583	missense	79618	exon7			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.803G>A	8.37:g.28876382G>A	ENSP00000380516:p.Arg268Gln		28932301	NM_024567	A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	G	36	5.957813	0.97145	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.99887	-4.14;-4.14;-7.53;-4.14;-4.14;-4.14	5.79	5.79	0.91817	Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99924	0.9965	H	0.95365	3.66	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.968;0.999	D	0.96411	0.9304	10	0.72032	D	0.01	-6.5205	20.024	0.97514	0.0:0.0:1.0:0.0	.	268;268;268;268;268;268	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	Q	268	ENSP00000287701:R268Q;ENSP00000401769:R268Q;ENSP00000384261:R268Q;ENSP00000430059:R268Q;ENSP00000380516:R268Q;ENSP00000430110:R268Q	ENSP00000287701:R268Q	R	+	2	0	HMBOX1	28932301	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.718000	0.92993	0.655000	0.94253	CGA		0.498	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567	
KIF13B	23303	broad.mit.edu	37	8	28974376	28974376	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:28974376C>A	ENST00000524189.1	-	31	3847	c.3809G>T	c.(3808-3810)aGa>aTa	p.R1270I	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1270					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.R1270I(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GACACAGATTCTCTTGCGTAA	0.587																																					p.R1270I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3809T	8						.						71.0	77.0	75.0					8																	28974376		2126	4241	6367	29030295	SO:0001583	missense	23303	exon31			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3809G>T	8.37:g.28974376C>A	ENSP00000427900:p.Arg1270Ile		29030295	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699550	0.68501	.	.	ENSG00000197892	ENST00000524189	T	0.80214	-1.35	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.90707	0.7084	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91699	0.5372	10	0.87932	D	0	.	18.9316	0.92568	0.0:1.0:0.0:0.0	.	1270	F8VPJ2	.	I	1270	ENSP00000427900:R1270I	ENSP00000427900:R1270I	R	-	2	0	KIF13B	29030295	0.997000	0.39634	0.030000	0.17652	0.056000	0.15407	7.257000	0.78362	2.691000	0.91804	0.655000	0.94253	AGA		0.587	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
KIF13B	23303	broad.mit.edu	37	8	28976451	28976451	+	Silent	SNP	C	C	T	rs544452612		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:28976451C>T	ENST00000524189.1	-	30	3632	c.3594G>A	c.(3592-3594)gcG>gcA	p.A1198A	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1198					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.A1198A(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGTCAAGGTCGCATCCCATC	0.433																																					p.A1198A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3594A	8						.						154.0	154.0	154.0					8																	28976451		1934	4147	6081	29032370	SO:0001819	synonymous_variant	23303	exon30			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3594G>A	8.37:g.28976451C>T			29032370	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	CCDS55217.1																																																																																				0.433	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
KIF13B	23303	broad.mit.edu	37	8	29035084	29035084	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:29035084C>A	ENST00000524189.1	-	9	770	c.732G>T	c.(730-732)gaG>gaT	p.E244D	KIF13B_ENST00000521515.1_Missense_Mutation_p.E244D	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	244	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.E244D(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGCCCACTTTCTCTCCAGATG	0.512																																					p.E244D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G732T	8						.						121.0	122.0	121.0					8																	29035084		1945	4143	6088	29091003	SO:0001583	missense	23303	exon9			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.732G>T	8.37:g.29035084C>A	ENSP00000427900:p.Glu244Asp		29091003	NM_015254	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596534	0.66332	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	D;D	0.88354	-2.37;-2.37	4.95	3.16	0.36331	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.86581	0.5967	M	0.70108	2.13	0.80722	D	1	B;P;B	0.44578	0.073;0.838;0.005	B;B;B	0.39503	0.033;0.301;0.014	D	0.84486	0.0608	10	0.46703	T	0.11	.	11.2654	0.49108	0.0:0.8519:0.0:0.1481	.	230;244;244	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	D	244	ENSP00000427900:E244D;ENSP00000429201:E244D	ENSP00000429201:E244D	E	-	3	2	KIF13B	29091003	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	2.598000	0.46223	0.689000	0.31550	0.462000	0.41574	GAG		0.512	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1		
TEX15	56154	broad.mit.edu	37	8	30694529	30694529	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:30694529G>A	ENST00000256246.2	-	3	8196	c.8122C>T	c.(8122-8124)Ctt>Ttt	p.L2708F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2708					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.L2708F(1)		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)		GAGTACAGAAGATTAGAATGT	0.433																																					p.L2708F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C8122T	8						.						95.0	93.0	94.0					8																	30694529		2203	4300	6503	30814071	SO:0001583	missense	56154	exon3			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.8122C>T	8.37:g.30694529G>A	ENSP00000256246:p.Leu2708Phe		30814071	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452773	0.26074	.	.	ENSG00000133863	ENST00000256246	T	0.10960	2.82	5.6	3.76	0.43208	.	0.532223	0.15959	N	0.236321	T	0.15132	0.0365	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	P	0.62813	0.907	T	0.06232	-1.0838	10	0.87932	D	0	.	6.5562	0.22462	0.0892:0.0:0.7299:0.1808	.	2708	Q9BXT5	TEX15_HUMAN	F	2708	ENSP00000256246:L2708F	ENSP00000256246:L2708F	L	-	1	0	TEX15	30814071	0.011000	0.17503	0.003000	0.11579	0.250000	0.25880	0.420000	0.21263	1.471000	0.48121	0.650000	0.86243	CTT		0.433	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30699702	30699702	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:30699702T>C	ENST00000256246.2	-	1	6906	c.6832A>G	c.(6832-6834)Att>Gtt	p.I2278V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2278					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.I2278V(1)		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)		GGTTTTACAATATGAATATTC	0.308																																					p.I2278V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6832G	8						.						55.0	55.0	55.0					8																	30699702		2203	4297	6500	30819244	SO:0001583	missense	56154	exon1			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.6832A>G	8.37:g.30699702T>C	ENSP00000256246:p.Ile2278Val		30819244	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.415580	0.01136	.	.	ENSG00000133863	ENST00000256246	T	0.08546	3.08	5.33	-0.889	0.10580	.	0.865692	0.09965	N	0.732959	T	0.02848	0.0085	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41466	-0.9507	10	0.87932	D	0	.	2.2166	0.03961	0.1197:0.401:0.1171:0.3622	.	2278	Q9BXT5	TEX15_HUMAN	V	2278	ENSP00000256246:I2278V	ENSP00000256246:I2278V	I	-	1	0	TEX15	30819244	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.904000	0.04080	-0.158000	0.11040	-0.251000	0.11542	ATT		0.308	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30701585	30701585	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:30701585G>T	ENST00000256246.2	-	1	5023	c.4949C>A	c.(4948-4950)gCt>gAt	p.A1650D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1650					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.A1650D(1)		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)		TCTTTCAAAAGCTTCCACAAA	0.353																																					p.A1650D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4949A	8						.						56.0	57.0	57.0					8																	30701585		2202	4299	6501	30821127	SO:0001583	missense	56154	exon1			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.4949C>A	8.37:g.30701585G>T	ENSP00000256246:p.Ala1650Asp		30821127	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461633	0.63513	.	.	ENSG00000133863	ENST00000256246	T	0.17054	2.3	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000015	T	0.42810	0.1219	M	0.63843	1.955	0.43007	D	0.99453	D	0.89917	1.0	D	0.97110	1.0	T	0.15065	-1.0450	10	0.87932	D	0	.	19.0795	0.93177	0.0:0.0:1.0:0.0	.	1650	Q9BXT5	TEX15_HUMAN	D	1650	ENSP00000256246:A1650D	ENSP00000256246:A1650D	A	-	2	0	TEX15	30821127	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.507000	0.60434	2.795000	0.96236	0.655000	0.94253	GCT		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30702230	30702230	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:30702230G>T	ENST00000256246.2	-	1	4378	c.4304C>A	c.(4303-4305)tCt>tAt	p.S1435Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1435					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1435Y(1)		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)		TAAAAGCAGAGAACTATCACT	0.353																																					p.S1435Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4304A	8						.						78.0	75.0	76.0					8																	30702230		2203	4298	6501	30821772	SO:0001583	missense	56154	exon1			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.4304C>A	8.37:g.30702230G>T	ENSP00000256246:p.Ser1435Tyr		30821772	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187806	0.38609	.	.	ENSG00000133863	ENST00000256246	T	0.13538	2.58	5.29	1.26	0.21427	.	1.075500	0.07215	N	0.859946	T	0.15435	0.0372	L	0.56769	1.78	0.09310	N	1	B	0.26809	0.16	B	0.29598	0.104	T	0.37957	-0.9683	10	0.87932	D	0	.	4.5607	0.12160	0.2648:0.0:0.584:0.1512	.	1435	Q9BXT5	TEX15_HUMAN	Y	1435	ENSP00000256246:S1435Y	ENSP00000256246:S1435Y	S	-	2	0	TEX15	30821772	0.001000	0.12720	0.000000	0.03702	0.217000	0.24651	0.036000	0.13819	0.002000	0.14630	0.650000	0.86243	TCT		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30702801	30702801	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:30702801T>G	ENST00000256246.2	-	1	3807	c.3733A>C	c.(3733-3735)Aat>Cat	p.N1245H		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1245					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.N1245H(1)		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)		GTACTAGAATTTATGTTTTCT	0.323																																					p.N1245H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3733C	8						.						66.0	64.0	65.0					8																	30702801		2203	4300	6503	30822343	SO:0001583	missense	56154	exon1			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.3733A>C	8.37:g.30702801T>G	ENSP00000256246:p.Asn1245His		30822343	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	3.226	-0.158498	0.06544	.	.	ENSG00000133863	ENST00000256246	T	0.23147	1.92	4.29	-3.23	0.05109	.	0.755486	0.12458	N	0.467167	T	0.11239	0.0274	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25676	-1.0125	10	0.87932	D	0	.	8.2668	0.31819	0.0:0.0907:0.6038:0.3054	.	1245	Q9BXT5	TEX15_HUMAN	H	1245	ENSP00000256246:N1245H	ENSP00000256246:N1245H	N	-	1	0	TEX15	30822343	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.119000	0.10676	-0.289000	0.09038	-1.072000	0.02254	AAT		0.323	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30703849	30703849	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:30703849G>T	ENST00000256246.2	-	1	2759	c.2685C>A	c.(2683-2685)ttC>ttA	p.F895L	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	895					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.F895L(1)		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)		ATTTTGTAAAGAAACATCTGC	0.323																																					p.F895L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2685A	8						.						83.0	80.0	81.0					8																	30703849		2203	4299	6502	30823391	SO:0001583	missense	56154	exon1			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.2685C>A	8.37:g.30703849G>T	ENSP00000256246:p.Phe895Leu		30823391	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	3.724	-0.056946	0.07317	.	.	ENSG00000133863	ENST00000256246	T	0.08984	3.03	5.92	3.01	0.34805	.	1.070340	0.07214	N	0.859812	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36939	-0.9727	10	0.87932	D	0	.	6.9114	0.24336	0.0812:0.0:0.6114:0.3075	.	895	Q9BXT5	TEX15_HUMAN	L	895	ENSP00000256246:F895L	ENSP00000256246:F895L	F	-	3	2	TEX15	30823391	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	0.472000	0.22116	0.806000	0.34183	0.467000	0.42956	TTC		0.323	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TEX15	56154	broad.mit.edu	37	8	30705995	30705995	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:30705995C>A	ENST00000256246.2	-	1	613	c.539G>T	c.(538-540)aGa>aTa	p.R180I	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	180					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.R180I(1)		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)		CTGTTGGGCTCTCTGAGCCTT	0.418																																					p.R180I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G539T	8						.						56.0	58.0	57.0					8																	30705995		2201	4300	6501	30825537	SO:0001583	missense	56154	exon1			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.539G>T	8.37:g.30705995C>A	ENSP00000256246:p.Arg180Ile		30825537	NM_031271		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724706	0.30593	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	5.77	0.819	0.18785	.	0.772349	0.11818	N	0.526491	T	0.13500	0.0327	L	0.32530	0.975	0.09310	N	0.999999	D	0.53151	0.958	P	0.54312	0.748	T	0.18178	-1.0345	10	0.87932	D	0	.	5.3754	0.16162	0.0:0.4878:0.1342:0.3779	.	180	Q9BXT5	TEX15_HUMAN	I	180	ENSP00000256246:R180I	ENSP00000256246:R180I	R	-	2	0	TEX15	30825537	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.123000	0.03263	-0.057000	0.13199	0.655000	0.94253	AGA		0.418	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
WRN	7486	broad.mit.edu	37	8	30942709	30942709	+	Missense_Mutation	SNP	G	G	A	rs556958354	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:30942709G>A	ENST00000298139.5	+	11	1627	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	460	2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.D460N(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TAATGAAAACGATACGTCCTA	0.289			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				G|||	4	0.000798722	0.0	0.0	5008	,	,		15130	0.0		0.0	False		,,,				2504	0.0041				p.D460N	Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1378A	8						.						88.0	101.0	97.0					8																	30942709		2200	4286	6486	31062251	SO:0001583	missense	7486	exon11	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1378G>A	8.37:g.30942709G>A	ENSP00000298139:p.Asp460Asn		31062251	NM_000553	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	8.881	0.951532	0.18431	.	.	ENSG00000165392	ENST00000298139	T	0.44881	0.91	3.17	3.17	0.36434	.	5.816890	0.01034	U	0.004197	T	0.15089	0.0364	N	0.02011	-0.69	0.09310	N	1	P	0.48089	0.905	B	0.29524	0.103	T	0.19943	-1.0290	10	0.28530	T	0.3	-12.5522	6.3729	0.21491	0.1344:0.0:0.8656:0.0	.	460	Q14191	WRN_HUMAN	N	460	ENSP00000298139:D460N	ENSP00000298139:D460N	D	+	1	0	WRN	31062251	0.877000	0.30153	0.009000	0.14445	0.064000	0.16182	3.094000	0.50227	2.063000	0.61619	0.585000	0.79938	GAT		0.289	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
WRN	7486	broad.mit.edu	37	8	30989978	30989978	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:30989978G>A	ENST00000298139.5	+	24	3172	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	975					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.E975K(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CATCTTAGGCGAAAAATTTGG	0.378			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												p.E975K	Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2923A	8						.						86.0	91.0	89.0					8																	30989978		2203	4300	6503	31109520	SO:0001583	missense	7486	exon24	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2923G>A	8.37:g.30989978G>A	ENSP00000298139:p.Glu975Lys		31109520	NM_000553	A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	9.502	1.103538	0.20632	.	.	ENSG00000165392	ENST00000298139	T	0.35973	1.28	5.45	3.54	0.40534	RQC domain (2);	0.421727	0.24447	N	0.038443	T	0.57548	0.2061	M	0.89287	3.02	0.09310	N	1	B;P	0.52463	0.14;0.953	P;P	0.53266	0.458;0.722	T	0.58312	-0.7658	10	0.52906	T	0.07	-2.4985	15.067	0.72002	0.0:0.4048:0.5952:0.0	.	385;975	Q59F09;Q14191	.;WRN_HUMAN	K	975	ENSP00000298139:E975K	ENSP00000298139:E975K	E	+	1	0	WRN	31109520	0.576000	0.26700	0.002000	0.10522	0.021000	0.10359	2.889000	0.48601	1.260000	0.44134	0.591000	0.81541	GAA		0.378	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
FUT10	84750	broad.mit.edu	37	8	33246900	33246900	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:33246900C>T	ENST00000327671.5	-	4	1424	c.793G>A	c.(793-795)Gat>Aat	p.D265N	FUT10_ENST00000518672.1_Missense_Mutation_p.D237N|FUT10_ENST00000335589.3_Missense_Mutation_p.D203N|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.D237N	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	265					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TAAAAGCCATCGGCATCCATA	0.438																																					p.D265N												.	.	0			c.G793A	8						.						113.0	106.0	108.0					8																	33246900		2203	4300	6503	33366442	SO:0001583	missense	84750	exon4			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"""Fucosyltransferases"""	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.793G>A	8.37:g.33246900C>T	ENSP00000332757:p.Asp265Asn		33366442	NM_032664	A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	ENST00000327671.5	37	CCDS6088.1	.	.	.	.	.	.	.	.	.	.	c	17.04	3.288200	0.59976	.	.	ENSG00000172728	ENST00000327671;ENST00000380081;ENST00000518672;ENST00000524021;ENST00000335589	T;T;T;T	0.27720	1.65;1.65;1.65;1.84	4.9	4.9	0.64082	.	0.571802	0.17986	N	0.155376	T	0.28101	0.0693	L	0.43152	1.355	0.09310	N	0.999998	P;B;P;B;P;P	0.48834	0.916;0.22;0.883;0.123;0.792;0.673	B;B;B;B;B;B	0.43754	0.43;0.065;0.269;0.04;0.24;0.151	T	0.11891	-1.0569	10	0.24483	T	0.36	-9.27	11.8131	0.52194	0.0:0.8227:0.1773:0.0	.	315;265;237;203;265;307	B4E056;Q6P4F1-5;Q6P4F1-4;Q6P4F1-3;Q6P4F1;E7EU36	.;.;.;.;FUT10_HUMAN;.	N	265;307;237;237;203	ENSP00000332757:D265N;ENSP00000430428:D237N;ENSP00000429870:D237N;ENSP00000334997:D203N	ENSP00000332757:D265N	D	-	1	0	FUT10	33366442	0.051000	0.20477	0.036000	0.18154	0.967000	0.64934	2.537000	0.45702	2.421000	0.82119	0.552000	0.68991	GAT		0.438	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376540.1	NM_032664	
RNF122	79845	broad.mit.edu	37	8	33406291	33406291	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:33406291G>T	ENST00000256257.1	-	6	849	c.448C>A	c.(448-450)Cta>Ata	p.L150I		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	150						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.L150I(1)		endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		TCATCCAATAGAATCCCAATG	0.547																																					p.L150I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C448A	8						.						224.0	185.0	198.0					8																	33406291		2203	4300	6503	33525833	SO:0001583	missense	79845	exon6			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.448C>A	8.37:g.33406291G>T	ENSP00000256257:p.Leu150Ile		33525833	NM_024787	Q52LK3	Missense_Mutation	SNP	ENST00000256257.1	37	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886025	0.51908	.	.	ENSG00000133874	ENST00000256257	T	0.31510	1.49	5.72	2.93	0.34026	.	0.079275	0.53938	D	0.000047	T	0.20007	0.0481	L	0.31664	0.95	0.44345	D	0.997236	B	0.24186	0.099	B	0.22601	0.04	T	0.04900	-1.0919	10	0.48119	T	0.1	-6.9189	6.7619	0.23546	0.1471:0.0:0.711:0.1419	.	150	Q9H9V4	RN122_HUMAN	I	150	ENSP00000256257:L150I	ENSP00000256257:L150I	L	-	1	2	RNF122	33525833	1.000000	0.71417	0.905000	0.35620	0.198000	0.23893	3.910000	0.56371	0.331000	0.23511	0.655000	0.94253	CTA		0.547	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787	
RNF122	79845	broad.mit.edu	37	8	33406360	33406360	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:33406360G>A	ENST00000256257.1	-	6	780	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	127						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R127C(1)		endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CAGACACAGCGAACTTCCAGC	0.498																																					p.R127C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C379T	8						.						206.0	186.0	193.0					8																	33406360		2203	4300	6503	33525902	SO:0001583	missense	79845	exon6			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.379C>T	8.37:g.33406360G>A	ENSP00000256257:p.Arg127Cys		33525902	NM_024787	Q52LK3	Missense_Mutation	SNP	ENST00000256257.1	37	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599117	0.87055	.	.	ENSG00000133874	ENST00000256257	T	0.45276	0.9	5.61	4.74	0.60224	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60500	-0.7251	10	0.87932	D	0	-31.5463	12.5446	0.56193	0.0776:0.0:0.9224:0.0	.	127	Q9H9V4	RN122_HUMAN	C	127	ENSP00000256257:R127C	ENSP00000256257:R127C	R	-	1	0	RNF122	33525902	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	8.901000	0.92560	1.372000	0.46190	0.655000	0.94253	CGC		0.498	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787	
UNC5D	137970	broad.mit.edu	37	8	35583732	35583732	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:35583732G>A	ENST00000404895.2	+	10	1694	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	UNC5D_ENST00000420357.1_Missense_Mutation_p.G389R|UNC5D_ENST00000287272.2_Missense_Mutation_p.G387R|UNC5D_ENST00000416672.1_Missense_Mutation_p.G461R|UNC5D_ENST00000453357.2_Missense_Mutation_p.G451R|UNC5D_ENST00000449677.1_Missense_Mutation_p.G32R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	456					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G451R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GACATACAGCGGACCCATCTG	0.488																																					p.G456R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1366A	8						.						65.0	64.0	64.0					8																	35583732		2203	4300	6503	35703274	SO:0001583	missense	137970	exon10			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1366G>A	8.37:g.35583732G>A	ENSP00000385143:p.Gly456Arg		35703274	NM_080872	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548461	0.86127	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.57107	0.45;0.82;0.92;0.45;0.42;2.13	6.04	6.04	0.98038	.	0.233599	0.50627	D	0.000119	T	0.65481	0.2695	M	0.73430	2.235	0.44012	D	0.996728	D;D;D;D	0.65815	0.995;0.995;0.992;0.995	P;B;P;B	0.49192	0.537;0.398;0.602;0.398	T	0.68827	-0.5306	10	0.72032	D	0.01	-22.8659	20.5948	0.99439	0.0:0.0:1.0:0.0	.	32;461;451;456	E9PDS8;C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;.;UNC5D_HUMAN	R	456;389;387;461;451;32	ENSP00000385143:G456R;ENSP00000392739:G389R;ENSP00000287272:G387R;ENSP00000412652:G461R;ENSP00000394303:G451R;ENSP00000397211:G32R	ENSP00000287272:G387R	G	+	1	0	UNC5D	35703274	1.000000	0.71417	0.565000	0.28409	0.932000	0.56968	7.204000	0.77872	2.873000	0.98535	0.563000	0.77884	GGA		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		
KCNU1	157855	broad.mit.edu	37	8	36722015	36722015	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:36722015C>T	ENST00000399881.3	+	19	2022	c.1985C>T	c.(1984-1986)tCg>tTg	p.S662L		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	662					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.S662L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCAAGCACTTCGAGCATATCA	0.428																																					p.S662L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1985T	8						.						114.0	105.0	108.0					8																	36722015		1847	4095	5942	36841173	SO:0001583	missense	157855	exon19			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1985C>T	8.37:g.36722015C>T	ENSP00000382770:p.Ser662Leu		36841173	NM_001031836		Missense_Mutation	SNP	ENST00000399881.3	37	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	C	3.496	-0.102836	0.06967	.	.	ENSG00000215262	ENST00000399881	T	0.29917	1.55	4.17	-8.34	0.00988	.	.	.	.	.	T	0.09905	0.0243	N	0.11673	0.155	0.20307	N	0.999919	B	0.02656	0.0	B	0.01281	0.0	T	0.09552	-1.0669	9	0.10902	T	0.67	-1.1342	2.0723	0.03616	0.2402:0.308:0.3221:0.1297	.	662	A8MYU2	KCNU1_HUMAN	L	662	ENSP00000382770:S662L	ENSP00000382770:S662L	S	+	2	0	KCNU1	36841173	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.317000	0.00514	-5.466000	0.00014	-0.898000	0.02899	TCG		0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
ASH2L	9070	broad.mit.edu	37	8	37978507	37978507	+	Silent	SNP	G	G	A	rs370342753		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:37978507G>A	ENST00000343823.6	+	10	1314	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	ASH2L_ENST00000545394.1_Silent_p.P196P|ASH2L_ENST00000250635.7_Silent_p.P241P|RP11-90P5.4_ENST00000519081.1_RNA|ASH2L_ENST00000521652.1_Silent_p.P241P|RP11-90P5.5_ENST00000476186.2_RNA|ASH2L_ENST00000428278.2_Silent_p.P241P	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	335					cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.P335P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				TGGAACACCCGTTTAACAAAG	0.488											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P241P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G723A	8						.	G	,	1,4405	2.1+/-5.4	0,1,2202	153.0	143.0	146.0		723,1005	-11.2	0.6	8		146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASH2L	NM_001105214.1,NM_004674.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	241/535,335/629	37978507	1,13005	2203	4300	6503	38097664	SO:0001819	synonymous_variant	9070	exon10			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1005G>A	8.37:g.37978507G>A		874	38097664	NM_001105214	A8K7C3|D3DSW9|O60659|O60660|Q96B62	Silent	SNP	ENST00000343823.6	37	CCDS6101.1																																																																																				0.488	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674	
LSM1	27257	broad.mit.edu	37	8	38027375	38027375	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:38027375A>C	ENST00000311351.4	-	3	571	c.176T>G	c.(175-177)aTt>aGt	p.I59S	LSM1_ENST00000522515.1_5'UTR|LSM1_ENST00000520755.1_Intron	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	59					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.I59S(1)		kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					CCCTCGAGGAATATCACCGTA	0.373																																					p.I59S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T176G	8						.						178.0	167.0	171.0					8																	38027375		2203	4300	6503	38146532	SO:0001583	missense	27257	exon3			AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.176T>G	8.37:g.38027375A>C	ENSP00000310596:p.Ile59Ser		38146532	NM_014462	B2R5E6	Missense_Mutation	SNP	ENST00000311351.4	37	CCDS6103.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488502	0.64074	.	.	ENSG00000175324	ENST00000311351	T	0.52057	0.68	5.71	4.53	0.55603	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.046305	0.85682	D	0.000000	T	0.68961	0.3058	M	0.91196	3.185	0.80722	D	1	D	0.53312	0.959	P	0.56088	0.791	T	0.75303	-0.3365	10	0.59425	D	0.04	-29.7811	12.8538	0.57873	0.8637:0.1363:0.0:0.0	.	59	O15116	LSM1_HUMAN	S	59	ENSP00000310596:I59S	ENSP00000310596:I59S	I	-	2	0	LSM1	38146532	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.193000	0.94954	0.966000	0.38159	0.524000	0.50904	ATT		0.373	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462	
TM2D2	83877	broad.mit.edu	37	8	38848996	38848996	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:38848996C>T	ENST00000456397.2	-	4	593	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	TM2D2_ENST00000522434.1_5'UTR|TM2D2_ENST00000456845.2_Missense_Mutation_p.R124Q|TM2D2_ENST00000412303.1_Missense_Mutation_p.R124Q|TM2D2_ENST00000397070.2_Missense_Mutation_p.R124Q	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	167						integral component of membrane (GO:0016021)		p.R167Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CAAACAGAATCGATCCACACC	0.438																																					p.R124Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G371A	8						.						147.0	124.0	132.0					8																	38848996		2203	4300	6503	38968153	SO:0001583	missense	83877	exon4			AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.500G>A	8.37:g.38848996C>T	ENSP00000416050:p.Arg167Gln		38968153	NM_001024380	B2RBK4|D3DSX8|Q8N0X9	Missense_Mutation	SNP	ENST00000456397.2	37	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	C	36	5.895446	0.97074	.	.	ENSG00000169490	ENST00000456845;ENST00000456397;ENST00000412303;ENST00000397070	.	.	.	5.78	5.78	0.91487	TM2 (1);	0.044329	0.85682	D	0.000000	D	0.90317	0.6971	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.92884	0.6325	9	0.87932	D	0	-21.3295	20.017	0.97481	0.0:1.0:0.0:0.0	.	124;167	Q9BX73-2;Q9BX73	.;TM2D2_HUMAN	Q	124;167;124;124	.	ENSP00000380260:R124Q	R	-	2	0	TM2D2	38968153	1.000000	0.71417	0.934000	0.37439	0.946000	0.59487	7.714000	0.84703	2.732000	0.93576	0.555000	0.69702	CGA		0.438	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1	NM_031940	
ADAM9	8754	broad.mit.edu	37	8	38947589	38947589	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:38947589G>A	ENST00000487273.2	+	19	2170	c.2092G>A	c.(2092-2094)Gga>Aga	p.G698R		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	698	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G698R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATTGAGGGACGGACTTCTGGT	0.363																																					p.G698R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2092A	8						.						256.0	234.0	241.0					8																	38947589		2203	4300	6503	39066746	SO:0001583	missense	8754	exon19			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2092G>A	8.37:g.38947589G>A	ENSP00000419446:p.Gly698Arg		39066746	NM_003816	B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	ENST00000487273.2	37	CCDS6112.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110979	0.77210	.	.	ENSG00000168615	ENST00000487273	D	0.87571	-2.27	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.88727	0.6515	L	0.34521	1.04	0.58432	D	0.99999	D	0.89917	1.0	D	0.77004	0.989	D	0.85104	0.0959	10	0.20519	T	0.43	.	14.1828	0.65586	0.0:0.0:0.8496:0.1504	.	698	Q13443	ADAM9_HUMAN	R	698	ENSP00000419446:G698R	ENSP00000419446:G698R	G	+	1	0	ADAM9	39066746	1.000000	0.71417	0.991000	0.47740	0.813000	0.45954	5.915000	0.69973	2.770000	0.95276	0.563000	0.77884	GGA		0.363	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2		
ADAM32	203102	broad.mit.edu	37	8	39091459	39091459	+	Missense_Mutation	SNP	G	G	A	rs199669397	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:39091459G>A	ENST00000379907.4	+	16	1803	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	ADAM32_ENST00000519315.1_Missense_Mutation_p.R453Q|ADAM32_ENST00000437682.2_Missense_Mutation_p.R460Q	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	559						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R558Q(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TACCCTACTCGAAAGCCTTTC	0.323													G|||	2	0.000399361	0.0	0.0029	5008	,	,		12863	0.0		0.0	False		,,,				2504	0.0				p.R559Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1676A	8						.	G	GLN/ARG	1,3655		0,1,1827	82.0	70.0	73.0		1676	-6.4	0.0	8		73	2,8162		0,2,4080	yes	missense	ADAM32	NM_145004.5	43	0,3,5907	AA,AG,GG		0.0245,0.0274,0.0254	benign	559/788	39091459	3,11817	1828	4082	5910	39210616	SO:0001583	missense	203102	exon16			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1676G>A	8.37:g.39091459G>A	ENSP00000369238:p.Arg559Gln		39210616	NM_145004	Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	CCDS47846.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	10.24	1.294779	0.23564	2.74E-4	2.45E-4	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.21543	2.0;2.0;2.0	4.91	-6.44	0.01920	ADAM, cysteine-rich (2);	1.949330	0.03863	N	0.274390	T	0.05456	0.0144	N	0.17764	0.52	0.09310	N	1	P;P;B	0.35944	0.488;0.529;0.335	B;B;B	0.26770	0.073;0.025;0.069	T	0.19745	-1.0296	10	0.16896	T	0.51	.	1.9638	0.03391	0.4264:0.22:0.2424:0.1111	.	460;453;559	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	Q	460;453;559	ENSP00000405978:R460Q;ENSP00000429422:R453Q;ENSP00000369238:R559Q	ENSP00000369238:R559Q	R	+	2	0	ADAM32	39210616	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.258000	0.08733	-1.871000	0.01138	-0.157000	0.13467	CGA		0.323	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	
ADAM2	2515	broad.mit.edu	37	8	39624523	39624523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:39624523C>A	ENST00000265708.4	-	14	1454	c.1351G>T	c.(1351-1353)Gaa>Taa	p.E451*	ADAM2_ENST00000347580.4_Nonsense_Mutation_p.E432*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.E451*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.E325*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	451	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E451*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGGTCGCATTCTTCAAAGGAA	0.393																																					p.E451X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1351T	8						.						154.0	138.0	143.0					8																	39624523		2203	4300	6503	39743680	SO:0001587	stop_gained	2515	exon14			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1351G>T	8.37:g.39624523C>A	ENSP00000265708:p.Glu451*		39743680	NM_001464	P78326|Q9UQQ8	Nonsense_Mutation	SNP	ENST00000265708.4	37	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602229	0.66445	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	.	.	.	4.75	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2847	0.43560	0.1978:0.8022:0.0:0.0	.	.	.	.	X	432;325;451;451	.	.	E	-	1	0	ADAM2	39743680	0.255000	0.24002	0.172000	0.22920	0.009000	0.06853	0.815000	0.27253	1.052000	0.40392	0.655000	0.94253	GAA		0.393	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
ANK1	286	broad.mit.edu	37	8	41580738	41580738	+	Missense_Mutation	SNP	C	C	T	rs376057905		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:41580738C>T	ENST00000347528.4	-	9	897	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ANK1_ENST00000379758.2_Missense_Mutation_p.E272K|ANK1_ENST00000289734.7_Missense_Mutation_p.E272K|ANK1_ENST00000352337.4_Missense_Mutation_p.E272K|ANK1_ENST00000396945.1_Missense_Mutation_p.E272K|ANK1_ENST00000396942.1_Missense_Mutation_p.E272K|ANK1_ENST00000265709.8_Missense_Mutation_p.E305K	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	272	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E272K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGTGTCAATTCGTCCTTTAAA	0.517																																					p.E272K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G814A	8						.						118.0	107.0	111.0					8																	41580738		2203	4300	6503	41699895	SO:0001583	missense	286	exon9			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.814G>A	8.37:g.41580738C>T	ENSP00000339620:p.Glu272Lys		41699895	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624810	0.96660	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.41	5.41	0.78517	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	N	0.17901	0.54	0.80722	D	1	D;D;P;D;D	0.64830	0.987;0.991;0.67;0.994;0.978	P;P;B;P;P	0.60949	0.881;0.829;0.055;0.623;0.881	T	0.71745	-0.4500	10	0.87932	D	0	.	19.1876	0.93649	0.0:1.0:0.0:0.0	.	305;272;272;272;272	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	K	272;272;272;272;272;272;305;272	ENSP00000339620:E272K;ENSP00000289734:E272K;ENSP00000369082:E272K;ENSP00000380149:E272K;ENSP00000380147:E272K;ENSP00000309131:E272K;ENSP00000265709:E305K	ENSP00000265709:E305K	E	-	1	0	ANK1	41699895	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.755000	0.85180	2.537000	0.85549	0.655000	0.94253	GAA		0.517	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
KAT6A	7994	broad.mit.edu	37	8	41791251	41791251	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:41791251G>A	ENST00000396930.3	-	18	5030	c.4487C>T	c.(4486-4488)tCg>tTg	p.S1496L	KAT6A_ENST00000406337.1_Missense_Mutation_p.S1496L|KAT6A_ENST00000265713.2_Missense_Mutation_p.S1496L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1496					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1496L(1)									ACTGCTGACCGAACGGACTGA	0.562																																					p.S1496L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4487T	8						.						134.0	110.0	118.0					8																	41791251		2203	4300	6503	41910408	SO:0001583	missense	7994	exon18			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4487C>T	8.37:g.41791251G>A	ENSP00000380136:p.Ser1496Leu		41910408	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569801	0.65765	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.74947	-0.89;-0.89;-0.89	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.82157	0.4976	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82715	-0.0320	10	0.87932	D	0	-11.5891	20.6243	0.99512	0.0:0.0:1.0:0.0	.	1496	Q92794	KAT6A_HUMAN	L	1496	ENSP00000265713:S1496L;ENSP00000385888:S1496L;ENSP00000380136:S1496L	ENSP00000265713:S1496L	S	-	2	0	KAT6A	41910408	1.000000	0.71417	0.897000	0.35233	0.589000	0.36550	9.476000	0.97823	2.879000	0.98667	0.650000	0.86243	TCG		0.562	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
KAT6A	7994	broad.mit.edu	37	8	41798484	41798484	+	Missense_Mutation	SNP	C	C	T	rs376411038		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:41798484C>T	ENST00000396930.3	-	16	3458	c.2915G>A	c.(2914-2916)cGc>cAc	p.R972H	KAT6A_ENST00000406337.1_Missense_Mutation_p.R972H|KAT6A_ENST00000265713.2_Missense_Mutation_p.R972H	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	972					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R972H(1)									CTCACTGTAGCGACGGGGCAG	0.597																																					p.R972H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2915A	8						.						103.0	102.0	102.0					8																	41798484		2203	4300	6503	41917641	SO:0001583	missense	7994	exon16			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2915G>A	8.37:g.41798484C>T	ENSP00000380136:p.Arg972His		41917641	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	6.798	0.516344	0.12944	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.60299	0.2;0.2;0.2	5.56	4.67	0.58626	.	0.387081	0.24796	N	0.035522	T	0.40222	0.1108	N	0.12182	0.205	0.28542	N	0.912036	P	0.49358	0.923	B	0.39660	0.306	T	0.32107	-0.9919	10	0.41790	T	0.15	-2.6719	15.7778	0.78236	0.1374:0.8626:0.0:0.0	.	972	Q92794	KAT6A_HUMAN	H	972;972;972;552	ENSP00000265713:R972H;ENSP00000385888:R972H;ENSP00000380136:R972H	ENSP00000265713:R972H	R	-	2	0	KAT6A	41917641	1.000000	0.71417	0.394000	0.26270	0.001000	0.01503	3.026000	0.49689	1.318000	0.45170	-0.188000	0.12872	CGC		0.597	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
KAT6A	7994	broad.mit.edu	37	8	41804115	41804115	+	Missense_Mutation	SNP	C	C	T	rs371603646		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:41804115C>T	ENST00000396930.3	-	13	2533	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	KAT6A_ENST00000406337.1_Missense_Mutation_p.D664N|KAT6A_ENST00000485568.1_Missense_Mutation_p.D664N|KAT6A_ENST00000265713.2_Missense_Mutation_p.D664N	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	664	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D664N(1)									TTACTGAAATCGATGAGAAAC	0.423																																					p.D664N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1990A	8						.	C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	130.0	116.0	120.0		1990,1990,1990	5.8	1.0	8		120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KAT6A	NM_001099412.1,NM_001099413.1,NM_006766.3	23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	664/2005,664/2005,664/2005	41804115	1,13005	2203	4300	6503	41923272	SO:0001583	missense	7994	exon13			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1990G>A	8.37:g.41804115C>T	ENSP00000380136:p.Asp664Asn		41923272	NM_001099413	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456398	0.63401	0.0	1.16E-4	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.85339	0.05;0.05;0.05;-1.97	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92552	0.6051	10	0.72032	D	0.01	-26.4771	20.1559	0.98114	0.0:1.0:0.0:0.0	.	664;664	A5PLL3;Q92794	.;KAT6A_HUMAN	N	664;664;664;244;664	ENSP00000265713:D664N;ENSP00000385888:D664N;ENSP00000380136:D664N;ENSP00000430606:D664N	ENSP00000265713:D664N	D	-	1	0	KAT6A	41923272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.770000	0.95276	0.650000	0.86243	GAT		0.423	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
PLAT	5327	broad.mit.edu	37	8	42037582	42037582	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:42037582G>A	ENST00000220809.4	-	12	1481	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	PLAT_ENST00000429089.2_Silent_p.L409L|PLAT_ENST00000429710.2_Silent_p.L283L|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000519510.1_Silent_p.L346L|PLAT_ENST00000524009.1_Silent_p.L320L|PLAT_ENST00000352041.3_Silent_p.L363L	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	409	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.L409L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	AGCTGCAGCAGCGCTGGGAGG	0.701																																					p.L363L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1087T	8						.						26.0	24.0	25.0					8																	42037582		2203	4299	6502	42156739	SO:0001819	synonymous_variant	5327	exon11				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1225C>T	8.37:g.42037582G>A			42156739	NM_033011	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	ENST00000220809.4	37	CCDS6126.1																																																																																				0.701	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930	
PLAT	5327	broad.mit.edu	37	8	42046556	42046556	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:42046556T>C	ENST00000220809.4	-	4	405	c.149A>G	c.(148-150)tAc>tGc	p.Y50C	PLAT_ENST00000429089.2_Missense_Mutation_p.Y50C|PLAT_ENST00000429710.2_Missense_Mutation_p.Y50C|PLAT_ENST00000270189.6_Missense_Mutation_p.Y50C|PLAT_ENST00000519510.1_Missense_Mutation_p.Y50C|PLAT_ENST00000524009.1_Missense_Mutation_p.Y50C|PLAT_ENST00000352041.3_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	50	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.|Important for binding to annexin A2.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.Y50C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	ATGTTGCTGGTATATCATCTG	0.502																																					p.Y50C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A149G	8						.						177.0	171.0	173.0					8																	42046556		2203	4300	6503	42165713	SO:0001583	missense	5327	exon4				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.149A>G	8.37:g.42046556T>C	ENSP00000220809:p.Tyr50Cys		42165713	NM_000930	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716131	0.30413	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000519510;ENST00000429710;ENST00000524009;ENST00000520523;ENST00000521694	T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19;-1.19	5.25	4.07	0.47477	Fibronectin, type I (4);Complement control module (1);	0.308175	0.31461	N	0.007609	D	0.86847	0.6031	M	0.80616	2.505	0.45502	D	0.998469	D;D;D;D	0.89917	1.0;0.999;1.0;0.959	D;D;D;P	0.83275	0.996;0.991;0.979;0.863	D	0.86716	0.1939	10	0.72032	D	0.01	.	10.1593	0.42842	0.1487:0.0:0.0:0.8513	.	50;50;50;50	B4DNJ1;B4DN26;B4DV92;P00750	.;.;.;TPA_HUMAN	C	50	ENSP00000270189:Y50C;ENSP00000392045:Y50C;ENSP00000220809:Y50C;ENSP00000428886:Y50C;ENSP00000407861:Y50C;ENSP00000429401:Y50C;ENSP00000428797:Y50C;ENSP00000429801:Y50C	ENSP00000220809:Y50C	Y	-	2	0	PLAT	42165713	1.000000	0.71417	0.191000	0.23289	0.059000	0.15707	2.228000	0.42981	0.803000	0.34113	0.477000	0.44152	TAC		0.502	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930	
DKK4	27121	broad.mit.edu	37	8	42231685	42231685	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:42231685C>T	ENST00000220812.2	-	4	794	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	203	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.R203Q(2)		NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAATTGGCTTCGACACAGTAG	0.443																																					p.R203Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G608A	8						.						92.0	93.0	92.0					8																	42231685		2203	4300	6503	42350842	SO:0001583	missense	27121	exon4			AF177397	CCDS6130.1	8p11.2-p11.1	2013-05-15	2013-05-15		ENSG00000104371	ENSG00000104371			2894	protein-coding gene	gene with protein product		605417	"""dickkopf (Xenopus laevis) homolog 4"", ""dickkopf homolog 4 (Xenopus laevis)"""			10570958, 11701963	Standard	NM_014420		Approved		uc003xpb.3	Q9UBT3	OTTHUMG00000164167	ENST00000220812.2:c.608G>A	8.37:g.42231685C>T	ENSP00000220812:p.Arg203Gln		42350842	NM_014420	Q3KNX0|Q9Y4C3	Missense_Mutation	SNP	ENST00000220812.2	37	CCDS6130.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217661	0.39201	.	.	ENSG00000104371	ENST00000220812	D	0.84146	-1.81	6.03	4.25	0.50352	Prokineticin domain (1);	0.272637	0.26535	N	0.023835	T	0.73776	0.3630	L	0.31664	0.95	0.34135	D	0.665696	B	0.33000	0.393	B	0.27608	0.081	T	0.74006	-0.3803	10	0.21540	T	0.41	-1.0608	10.8868	0.46972	0.0:0.8479:0.0:0.1521	.	203	Q9UBT3	DKK4_HUMAN	Q	203	ENSP00000220812:R203Q	ENSP00000220812:R203Q	R	-	2	0	DKK4	42350842	0.690000	0.27699	0.287000	0.24848	0.039000	0.13416	1.250000	0.32850	0.883000	0.36040	0.655000	0.94253	CGA		0.443	DKK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377563.1		
CHRNA6	8973	broad.mit.edu	37	8	42611074	42611074	+	Missense_Mutation	SNP	G	G	A	rs139568359		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:42611074G>A	ENST00000276410.2	-	5	1623	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Missense_Mutation_p.S408L	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	423					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.S423L(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CGAGTGCTCCGAATTTTCCAC	0.413																																					p.S423L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1268T	8						.						210.0	182.0	191.0					8																	42611074		2203	4300	6503	42730231	SO:0001583	missense	8973	exon5			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1268C>T	8.37:g.42611074G>A	ENSP00000276410:p.Ser423Leu		42730231	NM_004198	B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	0.975	-0.698837	0.03279	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	D;D	0.85088	-1.94;-1.94	5.93	-0.919	0.10478	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.754210	0.01263	U	0.009253	T	0.74650	0.3744	N	0.25647	0.755	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.003	T	0.54899	-0.8224	10	0.20046	T	0.44	.	4.1134	0.10070	0.499:0.0978:0.307:0.0962	.	408;423	B4DQH1;Q15825	.;ACHA6_HUMAN	L	423;408	ENSP00000276410:S423L;ENSP00000433871:S408L	ENSP00000276410:S423L	S	-	2	0	CHRNA6	42730231	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	0.511000	0.22739	-0.692000	0.05128	-1.268000	0.01426	TCG		0.413	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1		
HGSNAT	138050	broad.mit.edu	37	8	43037391	43037391	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:43037391A>G	ENST00000458501.2	+	11	1200	c.1200A>G	c.(1198-1200)gaA>gaG	p.E400E	HGSNAT_ENST00000379644.4_Silent_p.E372E|HGSNAT_ENST00000521576.1_Silent_p.E89E|HGSNAT_ENST00000297798.7_Silent_p.E104E			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	400					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.E400E(1)|p.E104E(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CTGTGCCTGAACATTGTGCCT	0.423																																					p.E372E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A1116G	8						.						460.0	438.0	445.0					8																	43037391		2023	4182	6205	43156548	SO:0001819	synonymous_variant	138050	exon11				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1200A>G	8.37:g.43037391A>G			43156548	NM_152419	B4E2V0	Silent	SNP	ENST00000458501.2	37		.	.	.	.	.	.	.	.	.	.	A	5.620	0.299135	0.10622	.	.	ENSG00000165102	ENST00000524016	.	.	.	5.13	-5.33	0.02713	.	.	.	.	.	T	0.30355	0.0762	.	.	.	0.34990	D	0.754976	.	.	.	.	.	.	T	0.39272	-0.9622	4	.	.	.	-3.6346	2.1771	0.03865	0.2422:0.2761:0.354:0.1277	.	.	.	.	A	74	.	.	T	+	1	0	HGSNAT	43156548	0.041000	0.20044	0.012000	0.15200	0.937000	0.57800	-0.290000	0.08354	-0.903000	0.03881	-0.262000	0.10625	ACA		0.423	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
POTEA	340441	broad.mit.edu	37	8	43212025	43212025	+	RNA	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:43212025T>G	ENST00000522175.2	+	0	1348							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.V495G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATGGTTCATGTACTACAAAAA	0.368																																					p.V495G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1484G	8						.						59.0	53.0	55.0					8																	43212025		1854	4118	5972	43331182			340441	exon12			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43212025T>G			43331182	NM_001005365	A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37																																																																																					0.368	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920	
PRKDC	5591	broad.mit.edu	37	8	48794074	48794074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:48794074G>T	ENST00000314191.2	-	39	5023	c.4967C>A	c.(4966-4968)tCa>tAa	p.S1656*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S1656*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1657					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.S1656*(1)|p.S1657*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AGATACAGATGAATCAATCTA	0.318								Non-homologous end-joining																													p.H1657N	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C4969A	8						.						43.0	41.0	42.0					8																	48794074		1815	4066	5881	48956627	SO:0001587	stop_gained	5591	exon38				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4967C>A	8.37:g.48794074G>T	ENSP00000313420:p.Ser1656*		48956627	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	G	45	11.755217	0.99599	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.43	4.55	0.56014	.	0.154468	0.44688	D	0.000437	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9034	0.63819	0.0731:0.0:0.9269:0.0	.	.	.	.	X	1656	.	ENSP00000313420:S1656X	S	-	2	0	PRKDC	48956627	1.000000	0.71417	0.965000	0.40720	0.952000	0.60782	6.785000	0.75089	1.295000	0.44724	0.643000	0.83706	TCA		0.318	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PRKDC	5591	broad.mit.edu	37	8	48842439	48842439	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:48842439T>G	ENST00000314191.2	-	18	2082	c.2026A>C	c.(2026-2028)Aat>Cat	p.N676H	PRKDC_ENST00000338368.3_Missense_Mutation_p.N676H|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	676					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.N676H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTCTTGGCATTTCTTACTGTA	0.318								Non-homologous end-joining																													p.N676H	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A2026C	8						.						50.0	50.0	50.0					8																	48842439		1813	4064	5877	49004992	SO:0001583	missense	5591	exon18				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2026A>C	8.37:g.48842439T>G	ENSP00000313420:p.Asn676His		49004992	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	21.8	4.197443	0.79015	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02421	4.37;4.3	5.54	5.54	0.83059	Armadillo-type fold (1);	0.188821	0.44688	D	0.000440	T	0.12305	0.0299	.	.	.	0.33173	D	0.548522	D;D;D	0.58970	0.98;0.984;0.984	P;P;P	0.61722	0.893;0.784;0.784	T	0.02251	-1.1188	9	0.66056	D	0.02	.	15.6838	0.77393	0.0:0.0:0.0:1.0	.	676;676;676	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	H	676	ENSP00000313420:N676H;ENSP00000345182:N676H	ENSP00000313420:N676H	N	-	1	0	PRKDC	49004992	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.939000	0.70179	2.108000	0.64289	0.383000	0.25322	AAT		0.318	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
EFCAB1	79645	broad.mit.edu	37	8	49642308	49642308	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:49642308C>A	ENST00000262103.3	-	4	522	c.442G>T	c.(442-444)Gat>Tat	p.D148Y	EFCAB1_ENST00000433756.1_Missense_Mutation_p.D96Y|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D96Y|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	148	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D148Y(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCAACCAAATCTTTAATTCCT	0.353																																					p.D148Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G442T	8						.						106.0	102.0	104.0					8																	49642308		2202	4300	6502	49804861	SO:0001583	missense	79645	exon4				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.442G>T	8.37:g.49642308C>A	ENSP00000262103:p.Asp148Tyr		49804861	NM_024593	B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	CCDS6145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.605571|4.605571	0.87157|0.87157	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000523008;ENST00000522254	T;T;T|.	0.48201|.	0.82;0.82;0.82|.	5.46|5.46	5.46|5.46	0.80206|0.80206	EF-hand-like domain (1);|.	0.040851|.	0.85682|.	D|.	0.000000|.	D|D	0.86481|0.86481	0.5943|0.5943	M|M	0.94101|0.94101	3.495|3.495	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.998;0.999|.	D|D	0.89341|0.89341	0.3654|0.3654	10|5	0.87932|.	D|.	0|.	.|.	16.8609|16.8609	0.86018|0.86018	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	96;148|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	Y|I	96;148;148;96|14;65	ENSP00000400873:D96Y;ENSP00000262103:D148Y;ENSP00000430765:D96Y|.	ENSP00000262103:D148Y|.	D|R	-|-	1|2	0|0	EFCAB1|EFCAB1	49804861|49804861	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.441000|7.441000	0.80485|0.80485	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.353	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593	
SNAI2	6591	broad.mit.edu	37	8	49832991	49832991	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:49832991G>A	ENST00000396822.1	-	3	446	c.89C>T	c.(88-90)tCc>tTc	p.S30F	SNAI2_ENST00000020945.1_Missense_Mutation_p.S30F			O43623	SNAI2_HUMAN	snail family zinc finger 2	30					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.S30F(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAGATACGGGGAAATAATCAC	0.428																																					p.S30F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C89T	8						.						103.0	113.0	110.0					8																	49832991		2203	4300	6503	49995544	SO:0001583	missense	6591	exon2			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.89C>T	8.37:g.49832991G>A	ENSP00000380034:p.Ser30Phe		49995544	NM_003068	B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495492	0.64186	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.11930	2.73;2.73	5.37	5.37	0.77165	.	0.097141	0.64402	D	0.000001	T	0.25865	0.0630	M	0.77103	2.36	0.80722	D	1	P	0.49961	0.93	P	0.44732	0.459	T	0.04281	-1.0963	9	.	.	.	-10.5121	19.0921	0.93231	0.0:0.0:1.0:0.0	.	30	O43623	SNAI2_HUMAN	F	30	ENSP00000020945:S30F;ENSP00000380034:S30F	.	S	-	2	0	SNAI2	49995544	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.288000	0.78691	2.509000	0.84616	0.561000	0.74099	TCC		0.428	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068	
SNTG1	54212	broad.mit.edu	37	8	51465728	51465728	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:51465728A>G	ENST00000522124.1	+	12	1460	c.799A>G	c.(799-801)Aca>Gca	p.T267A	SNTG1_ENST00000276467.5_Missense_Mutation_p.T267A|SNTG1_ENST00000517473.1_Missense_Mutation_p.T267A|SNTG1_ENST00000518864.1_Missense_Mutation_p.T267A	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	267					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)	p.T267A(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCAAATCTCACAAAGCACAA	0.408																																					p.T267A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A799G	8						.						112.0	98.0	103.0					8																	51465728		2203	4300	6503	51628281	SO:0001583	missense	54212	exon12			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.799A>G	8.37:g.51465728A>G	ENSP00000429842:p.Thr267Ala		51628281	NM_018967	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	a	18.51	3.639718	0.67244	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.29917	1.55;1.55;2.27;2.27	5.2	4.04	0.47022	.	0.043846	0.85682	N	0.000000	T	0.50565	0.1623	M	0.74647	2.275	0.54753	D	0.999989	B;P	0.52842	0.448;0.956	P;D	0.65010	0.481;0.931	T	0.47262	-0.9131	10	0.45353	T	0.12	.	10.3816	0.44115	0.9227:0.0:0.0773:0.0	.	267;267	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	A	267	ENSP00000429276:T267A;ENSP00000429842:T267A;ENSP00000431123:T267A;ENSP00000276467:T267A	ENSP00000276467:T267A	T	+	1	0	SNTG1	51628281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.588000	0.74076	0.832000	0.34804	-0.367000	0.07326	ACA		0.408	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		
PCMTD1	115294	broad.mit.edu	37	8	52733230	52733230	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:52733230C>T	ENST00000360540.5	-	7	1161	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	PCMTD1_ENST00000544451.1_Missense_Mutation_p.R176Q|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R252Q|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	252						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R252Q(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAGTGTGCGTCGAATGTAAAT	0.373																																					p.R252Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G755A	8						.																																			52895783	SO:0001583	missense	115294	exon6				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.755G>A	8.37:g.52733230C>T	ENSP00000353739:p.Arg252Gln		52895783	NM_052937	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739017	0.89573	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.72051	0.87;-0.62;0.87	5.77	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.83839	0.5341	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.83275	0.992;0.889;0.996	D	0.86207	0.1622	10	0.87932	D	0	-3.1963	16.2383	0.82393	0.1339:0.8661:0.0:0.0	.	122;176;252	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	Q	252;176;252	ENSP00000353739:R252Q;ENSP00000444026:R176Q;ENSP00000428099:R252Q	ENSP00000353739:R252Q	R	-	2	0	PCMTD1	52895783	1.000000	0.71417	0.968000	0.41197	0.962000	0.63368	7.046000	0.76592	1.422000	0.47177	0.655000	0.94253	CGA		0.373	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
ST18	9705	broad.mit.edu	37	8	53079447	53079447	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:53079447G>A	ENST00000276480.7	-	11	1852	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	390					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)	p.S390L(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGGCACCCCGAAAGGCTGCG	0.567																																					p.S390L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1169T	8						.						91.0	91.0	91.0					8																	53079447		2203	4300	6503	53242000	SO:0001583	missense	9705	exon11			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1169C>T	8.37:g.53079447G>A	ENSP00000276480:p.Ser390Leu		53242000	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	36	5.680501	0.96774	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.74209	-0.82;0.22	5.57	5.57	0.84162	.	0.129045	0.53938	D	0.000048	D	0.85767	0.5773	M	0.84773	2.715	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.56163	0.793;0.78	D	0.87821	0.2638	10	0.72032	D	0.01	-8.2125	19.5372	0.95257	0.0:0.0:1.0:0.0	.	390;390	E5RHS3;O60284	.;ST18_HUMAN	L	390	ENSP00000276480:S390L;ENSP00000428521:S390L	ENSP00000276480:S390L	S	-	2	0	ST18	53242000	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	9.869000	0.99810	2.609000	0.88269	0.563000	0.77884	TCG		0.567	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
ST18	9705	broad.mit.edu	37	8	53079532	53079532	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:53079532C>T	ENST00000276480.7	-	11	1767	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	362					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)	p.E362K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCCTCTTTTCAGGCCTTGGT	0.512																																					p.E362K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1084A	8						.						132.0	140.0	138.0					8																	53079532		2203	4300	6503	53242085	SO:0001583	missense	9705	exon11			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1084G>A	8.37:g.53079532C>T	ENSP00000276480:p.Glu362Lys		53242085	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635823	0.87760	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.54479	0.57;0.62	5.7	5.7	0.88788	.	0.205916	0.50627	D	0.000119	T	0.52370	0.1730	L	0.27053	0.805	0.80722	D	1	P;P	0.52316	0.952;0.732	P;B	0.49477	0.612;0.272	T	0.52230	-0.8603	10	0.48119	T	0.1	-16.7398	19.8218	0.96599	0.0:1.0:0.0:0.0	.	362;362	E5RHS3;O60284	.;ST18_HUMAN	K	362	ENSP00000276480:E362K;ENSP00000428521:E362K	ENSP00000276480:E362K	E	-	1	0	ST18	53242085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.678000	0.91216	0.655000	0.94253	GAA		0.512	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
ST18	9705	broad.mit.edu	37	8	53084821	53084821	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:53084821T>G	ENST00000276480.7	-	10	1283	c.600A>C	c.(598-600)gaA>gaC	p.E200D		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	200					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)	p.E200D(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCCAGCCATTTTCTGCACTTT	0.413																																					p.E200D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A600C	8						.						83.0	80.0	81.0					8																	53084821		2203	4300	6503	53247374	SO:0001583	missense	9705	exon10			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.600A>C	8.37:g.53084821T>G	ENSP00000276480:p.Glu200Asp		53247374	NM_014682	Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	T	9.581	1.123692	0.20959	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.46819	0.88;0.86	5.73	1.39	0.22231	.	0.252487	0.44483	D	0.000449	T	0.30448	0.0765	L	0.40543	1.245	0.32044	N	0.597883	B	0.10296	0.003	B	0.10450	0.005	T	0.14476	-1.0471	10	0.40728	T	0.16	-18.3135	1.495	0.02464	0.13:0.2264:0.2066:0.4371	.	200	O60284	ST18_HUMAN	D	200	ENSP00000276480:E200D;ENSP00000428521:E200D	ENSP00000276480:E200D	E	-	3	2	ST18	53247374	0.991000	0.36638	0.468000	0.27192	0.167000	0.22549	0.076000	0.14712	0.351000	0.24027	-0.912000	0.02778	GAA		0.413	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
XKR4	114786	broad.mit.edu	37	8	56436159	56436159	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:56436159C>A	ENST00000327381.6	+	3	1426	c.1326C>A	c.(1324-1326)atC>atA	p.I442I	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	442						integral component of membrane (GO:0016021)		p.I442I(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTATCTATATCTTCAGTTGGT	0.448																																					p.I442I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1326A	8						.						199.0	189.0	192.0					8																	56436159		2203	4300	6503	56598713	SO:0001819	synonymous_variant	114786	exon3			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1326C>A	8.37:g.56436159C>A			56598713	NM_052898	Q96PZ8	Silent	SNP	ENST00000327381.6	37	CCDS34893.1																																																																																				0.448	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898	
TGS1	96764	broad.mit.edu	37	8	56737239	56737239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:56737239C>T	ENST00000260129.5	+	13	3016	c.2539C>T	c.(2539-2541)Cga>Tga	p.R847*		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	847					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)	p.R847*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGACCTAATTCGAAGACCAGC	0.433																																					p.R847X	Esophageal Squamous(34;275 823 4842 34837 48447)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2539T	8						.						108.0	94.0	99.0					8																	56737239		2203	4300	6503	56899793	SO:0001587	stop_gained	96764	exon13			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2539C>T	8.37:g.56737239C>T	ENSP00000260129:p.Arg847*		56899793	NM_024831	A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Nonsense_Mutation	SNP	ENST00000260129.5	37	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	43	10.264167	0.99371	.	.	ENSG00000137574	ENST00000260129	.	.	.	5.67	3.77	0.43336	.	0.212097	0.40222	N	0.001155	.	.	.	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2008	13.0766	0.59091	0.4567:0.5433:0.0:0.0	.	.	.	.	X	847	.	ENSP00000260129:R847X	R	+	1	2	TGS1	56899793	0.970000	0.33590	0.996000	0.52242	0.994000	0.84299	1.355000	0.34068	0.652000	0.30806	0.655000	0.94253	CGA		0.433	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831	
LYN	4067	broad.mit.edu	37	8	56866526	56866526	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:56866526T>G	ENST00000519728.1	+	8	1069	c.773T>G	c.(772-774)tTt>tGt	p.F258C	LYN_ENST00000520220.2_Missense_Mutation_p.F237C	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	258	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.F258C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GCTGGGCAGTTTGGGGAAGTC	0.527																																					p.F258C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T773G	8						.						105.0	103.0	104.0					8																	56866526		2203	4300	6503	57029080	SO:0001583	missense	4067	exon8			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.773T>G	8.37:g.56866526T>G	ENSP00000428924:p.Phe258Cys		57029080	NM_002350	A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288839	0.80914	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.89681	-2.55;-2.55	5.08	5.08	0.68730	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);SH2 motif (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.96930	0.9680	10	0.87932	D	0	.	15.1358	0.72566	0.0:0.0:0.0:1.0	.	328;258	Q6NUK7;P07948	.;LYN_HUMAN	C	258;237	ENSP00000428924:F258C;ENSP00000428424:F237C	ENSP00000428924:F258C	F	+	2	0	LYN	57029080	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	7.921000	0.87530	2.049000	0.60858	0.528000	0.53228	TTT		0.527	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350	
RPS20	6224	broad.mit.edu	37	8	56985774	56985774	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:56985774G>A	ENST00000521262.1	-	4	488	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	CTA-397H3.3_ENST00000521403.1_RNA|RPS20_ENST00000009589.3_Missense_Mutation_p.R79C|RPS20_ENST00000524349.1_Missense_Mutation_p.R24C|RPS20_ENST00000520490.1_5'UTR|RPS20_ENST00000519807.1_Missense_Mutation_p.R79C|SNORD54_ENST00000459159.1_RNA|RPS20_ENST00000519606.1_3'UTR|RPS20_ENST00000520627.1_Missense_Mutation_p.R24C|RPS20_ENST00000523936.1_3'UTR			P60866	RS20_HUMAN	ribosomal protein S20	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R79C(1)					all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			ATCTGGAAACGATCCCACGTC	0.398																																					p.R79C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C235T	8						.						112.0	115.0	114.0					8																	56985774		2060	3962	6022	57148328	SO:0001583	missense	6224	exon4			L06498	CCDS6163.1, CCDS55231.1	8q12.1	2011-04-05				ENSG00000008988		"""S ribosomal proteins"""	10405	protein-coding gene	gene with protein product		603682				9582194, 8479924	Standard	NM_001023		Approved	S20	uc003xsm.2	P60866		ENST00000521262.1:c.235C>T	8.37:g.56985774G>A	ENSP00000427788:p.Arg79Cys		57148328	NM_001146227	B2R4F4|B4DW28|P17075|Q5M8S9	Missense_Mutation	SNP	ENST00000521262.1	37		.	.	.	.	.	.	.	.	.	.	G	16.45	3.126898	0.56721	.	.	ENSG00000008988	ENST00000519807;ENST00000009589;ENST00000524349;ENST00000521262;ENST00000520627	.	.	.	5.1	5.1	0.69264	.	0.054086	0.64402	D	0.000001	T	0.66426	0.2788	M	0.79343	2.45	0.80722	D	1	B;B	0.34015	0.435;0.376	B;B	0.33690	0.075;0.168	T	0.70110	-0.4962	9	0.51188	T	0.08	-19.5187	18.5292	0.90984	0.0:0.0:1.0:0.0	.	79;79	P60866;B4DW28	RS20_HUMAN;.	C	79;79;24;79;24	.	ENSP00000009589:R79C	R	-	1	0	RPS20	57148328	1.000000	0.71417	0.928000	0.36995	0.909000	0.53808	7.447000	0.80620	2.355000	0.79922	0.591000	0.81541	CGT		0.398	RPS20-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378166.1	NM_001023	
FAM110B	90362	broad.mit.edu	37	8	59059512	59059512	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:59059512C>T	ENST00000361488.3	+	5	1603	c.723C>T	c.(721-723)gcC>gcT	p.A241A	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	241						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A241A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCCCCGAGGCCGACCCTGTGG	0.622																																					p.A241A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C723T	8						.						86.0	96.0	93.0					8																	59059512		2203	4300	6503	59222066	SO:0001819	synonymous_variant	90362	exon5			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.723C>T	8.37:g.59059512C>T			59222066	NM_147189	Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	37	CCDS6170.1																																																																																				0.622	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189	
CYP7A1	1581	broad.mit.edu	37	8	59409692	59409692	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:59409692C>T	ENST00000301645.3	-	3	516	c.379G>A	c.(379-381)Gac>Aac	p.D127N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	127					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.D127N(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGAAAGTGTCGTTTATGTTT	0.438									Neonatal Giant Cell Hepatitis																												p.D127N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G379A	8						.						123.0	121.0	122.0					8																	59409692		2203	4300	6503	59572246	SO:0001583	missense	1581	exon3	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.379G>A	8.37:g.59409692C>T	ENSP00000301645:p.Asp127Asn		59572246	NM_000780	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	3.351	-0.132555	0.06753	.	.	ENSG00000167910	ENST00000301645	T	0.11712	2.75	5.61	-4.53	0.03462	.	0.773311	0.13524	N	0.381453	T	0.04137	0.0115	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37979	-0.9682	10	0.49607	T	0.09	-3.494	9.2728	0.37681	0.0:0.4413:0.3302:0.2285	.	127	P22680	CP7A1_HUMAN	N	127	ENSP00000301645:D127N	ENSP00000301645:D127N	D	-	1	0	CYP7A1	59572246	0.983000	0.35010	0.005000	0.12908	0.120000	0.20174	1.105000	0.31086	-0.316000	0.08690	-1.327000	0.01280	GAC		0.438	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780	
NSMAF	8439	broad.mit.edu	37	8	59547899	59547899	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:59547899C>T	ENST00000038176.3	-	4	473	c.261G>A	c.(259-261)aaG>aaA	p.K87K	NSMAF_ENST00000427130.2_Silent_p.K118K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	87					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.K87K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTTCTCCATGCTTTCCTATTT	0.289																																					p.K87K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G261A	8						.						84.0	86.0	85.0					8																	59547899		2203	4293	6496	59710453	SO:0001819	synonymous_variant	8439	exon4			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.261G>A	8.37:g.59547899C>T			59710453	NM_003580	B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	37	CCDS6173.1																																																																																				0.289	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	
CYP7B1	9420	broad.mit.edu	37	8	65528738	65528738	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:65528738C>A	ENST00000310193.3	-	3	533	c.360G>T	c.(358-360)gaG>gaT	p.E120D	CYP7B1_ENST00000523954.1_5'Flank	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	120					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.E120D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TAAATGCTTTCTCTAATAATT	0.333																																					p.E120D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G360T	8						.						37.0	37.0	37.0					8																	65528738		2203	4299	6502	65691292	SO:0001583	missense	9420	exon3			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.360G>T	8.37:g.65528738C>A	ENSP00000310721:p.Glu120Asp		65691292	NM_004820	B2RN07|Q9UNF5	Missense_Mutation	SNP	ENST00000310193.3	37	CCDS6180.1	.	.	.	.	.	.	.	.	.	.	C	9.628	1.135740	0.21123	.	.	ENSG00000172817	ENST00000310193	T	0.68025	-0.3	5.15	-4.78	0.03209	.	3.331330	0.01078	N	0.004928	T	0.46151	0.1378	N	0.17474	0.49	0.09310	N	1	B	0.19583	0.037	B	0.32022	0.139	T	0.19549	-1.0302	9	.	.	.	26.2001	0.2462	0.00199	0.3453:0.2199:0.1971:0.2377	.	120	O75881	CP7B1_HUMAN	D	120	ENSP00000310721:E120D	.	E	-	3	2	CYP7B1	65691292	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.563000	0.05943	-0.569000	0.06030	-2.051000	0.00406	GAG		0.333	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1		
MTFR1	9650	broad.mit.edu	37	8	66620173	66620173	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:66620173G>A	ENST00000262146.4	+	7	986	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	MTFR1_ENST00000458689.2_Missense_Mutation_p.R254Q|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	287	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.R287Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TATCGGTATCGAAGTGATAGC	0.458																																					p.R254Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G761A	8						.						129.0	128.0	128.0					8																	66620173		2203	4300	6503	66782727	SO:0001583	missense	9650	exon5				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.860G>A	8.37:g.66620173G>A	ENSP00000262146:p.Arg287Gln		66782727	NM_001145838	E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516669|4.516669	0.85495|0.85495	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689;ENST00000521247	.|T	.|0.46819	.|0.86	5.77|5.77	1.04|1.04	0.20106|0.20106	.|.	.|0.135191	.|0.52532	.|N	.|0.000072	T|T	0.56352|0.56352	0.1979|0.1979	M|M	0.85197|0.85197	2.74|2.74	0.45962|0.45962	D|D	0.998786|0.998786	.|D;P;D;P	.|0.69078	.|0.984;0.651;0.997;0.887	.|P;B;P;B	.|0.54026	.|0.504;0.158;0.74;0.232	T|T	0.54207|0.54207	-0.8328|-0.8328	5|10	.|0.25106	.|T	.|0.35	0.1307|0.1307	7.0664|7.0664	0.25154|0.25154	0.203:0.0:0.6791:0.118|0.203:0.0:0.6791:0.118	.|.	.|287;271;254;287	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	K|Q	245|271;287;254;103	.|ENSP00000262146:R287Q	.|ENSP00000262146:R287Q	E|R	+|+	1|2	0|0	MTFR1|MTFR1	66782727|66782727	1.000000|1.000000	0.71417|0.71417	0.297000|0.297000	0.24988|0.24988	0.980000|0.980000	0.70556|0.70556	1.968000|1.968000	0.40500|0.40500	-0.059000|-0.059000	0.13154|0.13154	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.458	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637	
PDE7A	5150	broad.mit.edu	37	8	66631607	66631607	+	Missense_Mutation	SNP	C	C	A	rs28515659	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:66631607C>A	ENST00000401827.3	-	13	1810	c.1367G>T	c.(1366-1368)aGa>aTa	p.R456I	PDE7A_ENST00000379419.4_Missense_Mutation_p.R430I	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	456					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.R430I(1)|p.R456I(1)		large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CGACTGTTCTCTCTGCAGTCC	0.478																																					p.R430I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1289T	8						.						136.0	119.0	125.0					8																	66631607		2203	4300	6503	66794161	SO:0001583	missense	5150	exon13			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.1367G>T	8.37:g.66631607C>A	ENSP00000385632:p.Arg456Ile		66794161	NM_002603	A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174654	0.38413	.	.	ENSG00000205268	ENST00000401827;ENST00000379419	T;T	0.77098	-1.07;-1.07	6.06	6.06	0.98353	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.194605	0.37669	N	0.001986	T	0.65995	0.2745	L	0.27053	0.805	0.80722	D	1	B;B	0.31153	0.051;0.31	B;B	0.24394	0.02;0.053	T	0.66646	-0.5871	10	0.62326	D	0.03	.	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	456;430	Q13946;Q13946-2	PDE7A_HUMAN;.	I	456;430	ENSP00000385632:R456I;ENSP00000368730:R430I	ENSP00000368730:R430I	R	-	2	0	PDE7A	66794161	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.748000	0.47483	2.880000	0.98712	0.650000	0.86243	AGA		0.478	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1		
DNAJC5B	85479	broad.mit.edu	37	8	66963846	66963846	+	Missense_Mutation	SNP	G	G	A	rs141686243		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:66963846G>A	ENST00000276570.5	+	3	351	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	22	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)		p.E22K(2)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGCTCTATACGAAATTCTTGG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		21264	0.001		0.0	False		,,,				2504	0.0				p.E22K												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.G64A	8						.						126.0	119.0	122.0					8																	66963846		2203	4300	6503	67126400	SO:0001583	missense	85479	exon3			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.64G>A	8.37:g.66963846G>A	ENSP00000276570:p.Glu22Lys		67126400	NM_033105	Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	CCDS6183.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.22	2.767558	0.49574	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.73897	-0.79;-0.79	5.88	5.88	0.94601	Heat shock protein DnaJ, N-terminal (5);	0.133121	0.51477	D	0.000097	T	0.62258	0.2413	N	0.20483	0.58	0.48571	D	0.999676	B	0.23937	0.094	B	0.22753	0.041	T	0.56438	-0.7979	10	0.20519	T	0.43	.	18.0067	0.89211	0.0:0.0:1.0:0.0	.	22	Q9UF47	DNJ5B_HUMAN	K	22	ENSP00000276570:E22K;ENSP00000430196:E22K	ENSP00000276570:E22K	E	+	1	0	DNAJC5B	67126400	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.196000	0.51020	2.791000	0.96007	0.563000	0.77884	GAA		0.398	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105	
TRIM55	84675	broad.mit.edu	37	8	67047256	67047256	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:67047256G>A	ENST00000315962.4	+	3	746	c.373G>A	c.(373-375)Gag>Aag	p.E125K	TRIM55_ENST00000353317.5_Missense_Mutation_p.E125K|TRIM55_ENST00000276573.7_Missense_Mutation_p.E125K|TRIM55_ENST00000350034.4_Missense_Mutation_p.E125K	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	125					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.E125K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GCCCATGTGCGAGGAACATGA	0.522																																					p.E125K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G373A	8						.						154.0	125.0	135.0					8																	67047256		2203	4300	6503	67209810	SO:0001583	missense	84675	exon3			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.373G>A	8.37:g.67047256G>A	ENSP00000323913:p.Glu125Lys		67209810	NM_184085	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844337	0.71488	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.51	5.51	0.81932	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	0.146540	0.64402	D	0.000010	T	0.35508	0.0934	L	0.41492	1.28	0.58432	D	0.999997	B;P;P;B	0.39094	0.141;0.607;0.659;0.224	B;B;B;B	0.32805	0.031;0.095;0.153;0.065	T	0.11251	-1.0595	10	0.32370	T	0.25	.	19.41	0.94667	0.0:0.0:1.0:0.0	.	125;125;125;125	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	K	125	ENSP00000323913:E125K;ENSP00000297348:E125K;ENSP00000276573:E125K;ENSP00000332302:E125K	ENSP00000276573:E125K	E	+	1	0	TRIM55	67209810	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	9.835000	0.99442	2.580000	0.87095	0.655000	0.94253	GAG		0.522	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	
ADHFE1	137872	broad.mit.edu	37	8	67369078	67369078	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:67369078G>T	ENST00000396623.3	+	11	1044	c.1013G>T	c.(1012-1014)gGt>gTt	p.G338V	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.G290V	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	338					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)	p.G290V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCAATTTCAGGTTTAGTGAAG	0.294																																					p.G338V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1013T	8						.						61.0	63.0	62.0					8																	67369078		2201	4300	6501	67531632	SO:0001583	missense	137872	exon11			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.1013G>T	8.37:g.67369078G>T	ENSP00000379865:p.Gly338Val		67531632	NM_144650	B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	ENST00000396623.3	37	CCDS6190.2	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651034	0.88056	.	.	ENSG00000147576	ENST00000396623;ENST00000415254	T;T	0.51071	0.72;0.72	5.56	5.56	0.83823	Alcohol dehydrogenase, iron-type (1);	0.000000	0.85682	D	0.000000	T	0.78811	0.4342	H	0.95004	3.61	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.84738	0.0749	10	0.87932	D	0	-9.6163	19.5275	0.95212	0.0:0.0:1.0:0.0	.	338	Q8IWW8	HOT_HUMAN	V	338;290	ENSP00000379865:G338V;ENSP00000407115:G290V	ENSP00000379865:G338V	G	+	2	0	ADHFE1	67531632	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.368000	0.97152	2.603000	0.88011	0.563000	0.77884	GGT		0.294	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316867.3	NM_144650	
MYBL1	4603	broad.mit.edu	37	8	67509575	67509575	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:67509575G>A	ENST00000522677.3	-	5	912	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.L168F	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	168	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L168F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CTTCCTGGAAGTAGTTTGGCA	0.383																																					p.L168F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C502T	8						.						72.0	63.0	65.0					8																	67509575		1833	4086	5919	67672129	SO:0001583	missense	4603	exon5			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.502C>T	8.37:g.67509575G>A	ENSP00000429633:p.Leu168Phe		67672129	NM_001080416	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445338	0.83993	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.50813	0.73;0.73	5.24	5.24	0.73138	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	L	0.53561	1.675	0.80722	D	1	D;D;D	0.89917	1.0;0.97;0.975	D;D;D	0.91635	0.999;0.962;0.94	T	0.68315	-0.5441	10	0.66056	D	0.02	-12.1246	18.8258	0.92117	0.0:0.0:1.0:0.0	.	168;168;168	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	F	168	ENSP00000429633:L168F;ENSP00000428011:L168F	ENSP00000429633:L168F	L	-	1	0	MYBL1	67672129	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.924000	0.87555	2.433000	0.82419	0.561000	0.74099	CTT		0.383	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
VCPIP1	80124	broad.mit.edu	37	8	67576841	67576841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:67576841G>A	ENST00000310421.4	-	1	2611	c.2353C>T	c.(2353-2355)Cga>Tga	p.R785*		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	785					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.R785*(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATGGACTGTCGTCCATCATTA	0.433																																					p.R785X	NSCLC(179;265 2915 6144 43644)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2353T	8						.						180.0	171.0	174.0					8																	67576841		2203	4300	6503	67739395	SO:0001587	stop_gained	80124	exon1			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2353C>T	8.37:g.67576841G>A	ENSP00000309031:p.Arg785*		67739395	NM_025054	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Nonsense_Mutation	SNP	ENST00000310421.4	37	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	G	42	9.250744	0.99115	.	.	ENSG00000175073	ENST00000310421	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.574	14.0684	0.64847	0.0:0.0:0.612:0.388	.	.	.	.	X	785	.	ENSP00000309031:R785X	R	-	1	2	VCPIP1	67739395	1.000000	0.71417	0.954000	0.39281	0.993000	0.82548	2.421000	0.44688	1.476000	0.48215	0.655000	0.94253	CGA		0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1		
ARFGEF1	10565	broad.mit.edu	37	8	68107812	68107812	+	IGR	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:68107812C>T	ENST00000262215.3	-	0	7225				ARFGEF1_ENST00000517955.1_5'Flank|CSPP1_ENST00000412460.1_Missense_Mutation_p.S872L|CSPP1_ENST00000262210.5_Missense_Mutation_p.S1217L|ARFGEF1_ENST00000520381.1_Intron	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.S1217L(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAGGGCCTGTCGACTGCACAT	0.473																																					p.S1217L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3650T	8						.						43.0	44.0	44.0					8																	68107812		1927	4144	6071	68270366	SO:0001628	intergenic_variant	79848	exon29			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626		8.37:g.68107812C>T			68270366	NM_024790	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847610	0.71603	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.52754	0.65;0.73;0.73	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.68384	0.2995	M	0.62723	1.935	0.80722	D	1	P;D;D	0.89917	0.531;1.0;1.0	B;D;D	0.85130	0.232;0.997;0.997	T	0.69741	-0.5063	10	0.87932	D	0	-12.8471	19.3931	0.94592	0.0:1.0:0.0:0.0	.	872;1217;1252	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;CSPP1_HUMAN	L	1217;1252;872;872	ENSP00000262210:S1217L;ENSP00000415782:S872L;ENSP00000430092:S872L	ENSP00000262210:S1217L	S	+	2	0	CSPP1	68270366	1.000000	0.71417	0.986000	0.45419	0.275000	0.26752	5.839000	0.69395	2.747000	0.94245	0.650000	0.86243	TCG		0.473	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
ARFGEF1	10565	broad.mit.edu	37	8	68111228	68111228	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:68111228C>T	ENST00000262215.3	-	39	5880	c.5491G>A	c.(5491-5493)Gga>Aga	p.G1831R	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Intron	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1831					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.G1831R(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAAACTACTCCGATTCGCAGA	0.373																																					p.G1831R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5491A	8						.						145.0	136.0	139.0					8																	68111228		2203	4300	6503	68273782	SO:0001583	missense	10565	exon39			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5491G>A	8.37:g.68111228C>T	ENSP00000262215:p.Gly1831Arg		68273782	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436273	0.83885	.	.	ENSG00000066777	ENST00000262215	T	0.34275	1.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.61874	0.2382	M	0.82823	2.61	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.59546	0.859;0.852	T	0.67654	-0.5615	10	0.87932	D	0	.	19.0957	0.93249	0.0:1.0:0.0:0.0	.	1831;655	Q9Y6D6;B3KMS9	BIG1_HUMAN;.	R	1831	ENSP00000262215:G1831R	ENSP00000262215:G1831R	G	-	1	0	ARFGEF1	68273782	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	7.776000	0.85560	2.672000	0.90937	0.650000	0.86243	GGA		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
ARFGEF1	10565	broad.mit.edu	37	8	68139531	68139531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:68139531G>A	ENST00000262215.3	-	27	4146	c.3757C>T	c.(3757-3759)Cga>Tga	p.R1253*	ARFGEF1_ENST00000518230.1_Nonsense_Mutation_p.R91*|ARFGEF1_ENST00000520381.1_Nonsense_Mutation_p.R707*	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1253					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.R1253*(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACCATATCTCGAATTGTTGGA	0.373																																					p.R1253X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C3757T	8						.						110.0	115.0	113.0					8																	68139531		2203	4300	6503	68302085	SO:0001587	stop_gained	10565	exon27			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3757C>T	8.37:g.68139531G>A	ENSP00000262215:p.Arg1253*		68302085	NM_006421	Q9NV46|Q9UFV2|Q9UNL0	Nonsense_Mutation	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	37	6.199942	0.97371	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	.	.	.	5.56	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2645	0.37632	0.073:0.0:0.7827:0.1443	.	.	.	.	X	707;1253;91;102	.	ENSP00000262215:R1253X	R	-	1	2	ARFGEF1	68302085	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.253000	0.58791	1.351000	0.45789	-0.225000	0.12378	CGA		0.373	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421	
PREX2	80243	broad.mit.edu	37	8	68972915	68972915	+	Splice_Site	SNP	G	G	A	rs201372935		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:68972915G>A	ENST00000288368.4	+	11	1517	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	414	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.E414K(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCTTGCAGCGAATTTGTGTC	0.418																																					p.E414K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1240A	8						.	G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	89.0	88.0	89.0		1240,1240	5.7	1.0	8		89	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice,missense-near-splice	PREX2	NM_024870.2,NM_025170.4	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	414/1607,414/980	68972915	1,13005	2203	4300	6503	69135469	SO:0001630	splice_region_variant	80243	exon11			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1239-1G>A	8.37:g.68972915G>A			69135469	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	36	5.652278	0.96724	0.0	1.16E-4	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.20881	2.04	5.69	5.69	0.88448	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	M	0.88704	2.975	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.72625	0.93;0.978;0.962	T	0.63184	-0.6694	10	0.87932	D	0	.	19.817	0.96573	0.0:0.0:1.0:0.0	.	414;414;414	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	K	414	ENSP00000288368:E414K	ENSP00000288368:E414K	E	+	1	0	PREX2	69135469	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.869000	0.99810	2.678000	0.91216	0.655000	0.94253	GAA		0.418	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Missense_Mutation
PREX2	80243	broad.mit.edu	37	8	68984731	68984731	+	Splice_Site	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:68984731G>T	ENST00000288368.4	+	14	1772	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	499	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.D499Y(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCTTTATAGAGATAAAGATTA	0.303																																					p.D499Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1495T	8						.						71.0	76.0	74.0					8																	68984731		2203	4300	6503	69147285	SO:0001630	splice_region_variant	80243	exon14			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1494-1G>T	8.37:g.68984731G>T			69147285	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392200	0.83011	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.20069	2.1	5.76	5.76	0.90799	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56630	0.1998	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.87578	0.964;0.998;0.997	T	0.63305	-0.6667	10	0.87932	D	0	.	19.9658	0.97266	0.0:0.0:1.0:0.0	.	499;499;499	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Y	499	ENSP00000288368:D499Y	ENSP00000288368:D499Y	D	+	1	0	PREX2	69147285	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	9.846000	0.99502	2.721000	0.93114	0.591000	0.81541	GAT		0.303	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	Missense_Mutation
PREX2	80243	broad.mit.edu	37	8	69031691	69031691	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:69031691G>A	ENST00000288368.4	+	28	3723	c.3446G>A	c.(3445-3447)cGc>cAc	p.R1149H		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1149					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R1149H(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTAAGTGTTCGCATATCTCAT	0.363																																					p.R1149H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3446A	8						.						181.0	163.0	169.0					8																	69031691		2203	4300	6503	69194245	SO:0001583	missense	80243	exon28			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3446G>A	8.37:g.69031691G>A	ENSP00000288368:p.Arg1149His		69194245	NM_024870	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416547	0.96092	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.39997	1.05	5.39	5.39	0.77823	.	0.066234	0.64402	D	0.000004	T	0.55641	0.1933	L	0.46157	1.445	0.53005	D	0.999969	D	0.63880	0.993	P	0.58077	0.832	T	0.55366	-0.8152	10	0.59425	D	0.04	.	19.5223	0.95190	0.0:0.0:1.0:0.0	.	1149	Q70Z35	PREX2_HUMAN	H	1149;1155	ENSP00000288368:R1149H	ENSP00000288368:R1149H	R	+	2	0	PREX2	69194245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.147000	0.77382	2.697000	0.92050	0.650000	0.86243	CGC		0.363	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
C8orf34	116328	broad.mit.edu	37	8	69400274	69400274	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:69400274T>C	ENST00000539993.1	+	5	1044	c.495T>C	c.(493-495)gaT>gaC	p.D165D	C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Silent_p.D251D|C8orf34_ENST00000348340.2_Silent_p.D165D|C8orf34_ENST00000337103.4_Silent_p.D140D			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	165								p.D165D(1)|p.D140D(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAATTTCAGATGAACTCGATA	0.274																																					p.D251D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T753C	8						.						43.0	45.0	44.0					8																	69400274		2198	4282	6480	69562828	SO:0001819	synonymous_variant	116328	exon5			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.495T>C	8.37:g.69400274T>C			69562828	NM_052958	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	ENST00000539993.1	37																																																																																					0.274	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958	
SULF1	23213	broad.mit.edu	37	8	70513932	70513932	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:70513932A>G	ENST00000260128.4	+	10	1646	c.929A>G	c.(928-930)tAc>tGc	p.Y310C	SULF1_ENST00000419716.3_Missense_Mutation_p.Y310C|SULF1_ENST00000402687.4_Missense_Mutation_p.Y310C|SULF1_ENST00000458141.2_Missense_Mutation_p.Y310C|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	310					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.Y310C(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAGAATACTTACATCATTTAC	0.438																																					p.Y310C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A929G	8						.						290.0	253.0	266.0					8																	70513932		2203	4300	6503	70676486	SO:0001583	missense	23213	exon10			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.929A>G	8.37:g.70513932A>G	ENSP00000260128:p.Tyr310Cys		70676486	NM_001128205	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816716	0.70912	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	6.16	6.16	0.99307	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	H	0.95982	3.75	0.80722	D	1	D	0.65815	0.995	D	0.80764	0.994	D	0.99589	1.0975	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	310	Q8IWU6	SULF1_HUMAN	C	310	ENSP00000403040:Y310C;ENSP00000260128:Y310C;ENSP00000385704:Y310C;ENSP00000390315:Y310C	ENSP00000260128:Y310C	Y	+	2	0	SULF1	70676486	1.000000	0.71417	0.996000	0.52242	0.663000	0.39108	7.327000	0.79147	2.367000	0.80283	0.528000	0.53228	TAC		0.438	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
SULF1	23213	broad.mit.edu	37	8	70514036	70514036	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:70514036C>T	ENST00000260128.4	+	10	1750	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	SULF1_ENST00000419716.3_Missense_Mutation_p.R345C|SULF1_ENST00000402687.4_Missense_Mutation_p.R345C|SULF1_ENST00000458141.2_Missense_Mutation_p.R345C|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	345					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.R345C(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTTTTTATTCGTGGTCCAAG	0.418																																					p.R345C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1033T	8						.						373.0	326.0	342.0					8																	70514036		2203	4300	6503	70676590	SO:0001583	missense	23213	exon10			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1033C>T	8.37:g.70514036C>T	ENSP00000260128:p.Arg345Cys		70676590	NM_001128205	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574599	0.86542	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98876	-5.2;-5.2;-5.2;-5.2	6.16	6.16	0.99307	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	M	0.93016	3.37	0.80722	D	1	P	0.48911	0.917	P	0.48738	0.588	D	0.99831	1.1054	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	345	Q8IWU6	SULF1_HUMAN	C	345	ENSP00000403040:R345C;ENSP00000260128:R345C;ENSP00000385704:R345C;ENSP00000390315:R345C	ENSP00000260128:R345C	R	+	1	0	SULF1	70676590	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	6.200000	0.72118	2.937000	0.99478	0.650000	0.86243	CGT		0.418	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
SLCO5A1	81796	broad.mit.edu	37	8	70744105	70744105	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:70744105A>C	ENST00000260126.4	-	2	1510	c.804T>G	c.(802-804)atT>atG	p.I268M	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.I268M|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.I268M	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I268M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGCGCGCAAATGAATAAAG	0.512																																					p.I268M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T804G	8						.						101.0	103.0	102.0					8																	70744105		2203	4300	6503	70906659	SO:0001583	missense	81796	exon2			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.804T>G	8.37:g.70744105A>C	ENSP00000260126:p.Ile268Met		70906659	NM_030958	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	1.152	-0.646388	0.03531	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.60797	0.16;0.16;0.16	5.61	-5.94	0.02247	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.674980	0.15081	N	0.281644	T	0.50257	0.1605	L	0.28274	0.84	0.27348	N	0.956317	B;P;B;B	0.48350	0.009;0.909;0.134;0.051	B;P;B;B	0.59012	0.071;0.85;0.243;0.069	T	0.52117	-0.8618	10	0.39692	T	0.17	.	8.0124	0.30361	0.3503:0.2181:0.4317:0.0	.	268;268;268;268	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	M	268	ENSP00000260126:I268M;ENSP00000434422:I268M;ENSP00000431611:I268M	ENSP00000260126:I268M	I	-	3	3	SLCO5A1	70906659	0.788000	0.28762	0.037000	0.18230	0.431000	0.31685	-0.030000	0.12308	-1.084000	0.03092	-0.379000	0.06801	ATT		0.512	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
SLCO5A1	81796	broad.mit.edu	37	8	70744575	70744575	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:70744575C>T	ENST00000260126.4	-	2	1040	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A112T|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A112T	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A112T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGAGCATGGCCAAGGCGGAG	0.607											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A112T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	8						.						110.0	105.0	107.0					8																	70744575		2203	4300	6503	70907129	SO:0001583	missense	81796	exon2			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.334G>A	8.37:g.70744575C>T	ENSP00000260126:p.Ala112Thr	1124	70907129	NM_030958	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279846	0.23392	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.43294	1.1;1.46;0.95	5.18	3.32	0.38043	.	0.473837	0.19495	N	0.112898	T	0.29256	0.0728	L	0.29908	0.895	0.28811	N	0.898266	B;B;B;B	0.14012	0.005;0.009;0.008;0.007	B;B;B;B	0.13407	0.008;0.006;0.002;0.009	T	0.16188	-1.0411	10	0.34782	T	0.22	.	9.2943	0.37806	0.2917:0.5672:0.141:0.0	.	112;112;112;112	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	T	112	ENSP00000260126:A112T;ENSP00000434422:A112T;ENSP00000431611:A112T	ENSP00000260126:A112T	A	-	1	0	SLCO5A1	70907129	1.000000	0.71417	0.964000	0.40570	0.180000	0.23129	1.631000	0.37092	0.711000	0.32018	0.555000	0.69702	GCC		0.607	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958	
TRAM1	23471	broad.mit.edu	37	8	71520395	71520395	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:71520395G>A	ENST00000262213.2	-	1	209	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Intron|RP11-382J12.1_ENST00000499227.2_5'Flank|TRAM1_ENST00000521425.1_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	14					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L14L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TCGTGGCTCAGCACTGGGGGG	0.647																																					p.L14L	Ovarian(85;984 1334 5116 12432 40638)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C40T	8						.						75.0	76.0	76.0					8																	71520395		2203	4300	6503	71682949	SO:0001819	synonymous_variant	23471	exon1			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.40C>T	8.37:g.71520395G>A			71682949	NM_014294	B4E0K2	Silent	SNP	ENST00000262213.2	37	CCDS6207.1																																																																																				0.647	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294	
XKR9	389668	broad.mit.edu	37	8	71646500	71646500	+	Silent	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:71646500C>A	ENST00000408926.3	+	5	1497	c.963C>A	c.(961-963)atC>atA	p.I321I	XKR9_ENST00000520030.1_Silent_p.I321I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	321						integral component of membrane (GO:0016021)		p.I321I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTATACCTATCAGTATAACTA	0.343																																					p.I321I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C963A	8						.						71.0	72.0	72.0					8																	71646500		2203	4298	6501	71809054	SO:0001819	synonymous_variant	389668	exon5			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.963C>A	8.37:g.71646500C>A			71809054	NM_001011720	B2RNS9|B9EH74	Silent	SNP	ENST00000408926.3	37	CCDS34905.1																																																																																				0.343	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720	
KCNB2	9312	broad.mit.edu	37	8	73480322	73480322	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:73480322C>T	ENST00000523207.1	+	2	941	c.353C>T	c.(352-354)tCg>tTg	p.S118L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	118					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S118L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGTGCACTTTCGTTTGGCCAA	0.423																																					p.S118L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C353T	8						.						94.0	98.0	97.0					8																	73480322		2203	4300	6503	73642876	SO:0001583	missense	9312	exon2			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.353C>T	8.37:g.73480322C>T	ENSP00000430846:p.Ser118Leu		73642876	NM_004770	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640007	0.87760	.	.	ENSG00000182674	ENST00000523207	T	0.77620	-1.11	6.17	6.17	0.99709	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.34932	U	0.003570	T	0.79650	0.4482	L	0.51914	1.62	0.80722	D	1	B	0.34329	0.449	B	0.41691	0.364	T	0.75181	-0.3408	10	0.38643	T	0.18	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	118	Q92953	KCNB2_HUMAN	L	118	ENSP00000430846:S118L	ENSP00000430846:S118L	S	+	2	0	KCNB2	73642876	1.000000	0.71417	0.930000	0.37139	0.554000	0.35429	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCG		0.423	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
SBSPON	157869	broad.mit.edu	37	8	73984060	73984060	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:73984060C>T	ENST00000297354.6	-	3	659	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	152					immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R147Q(1)									CGTAGCTTGTCGTGTTCTCTC	0.398																																					p.R152Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G455A	8						.						130.0	132.0	132.0					8																	73984060		1894	4101	5995	74146614	SO:0001583	missense	157869	exon3				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.455G>A	8.37:g.73984060C>T	ENSP00000297354:p.Arg152Gln		74146614	NM_153225	A8KAA5|Q96J64	Missense_Mutation	SNP	ENST00000297354.6	37	CCDS43747.2	.	.	.	.	.	.	.	.	.	.	C	7.321	0.616878	0.14129	.	.	ENSG00000164764	ENST00000297354	T	0.21361	2.01	5.77	4.87	0.63330	.	0.483056	0.24419	N	0.038696	T	0.19565	0.0470	M	0.64404	1.975	0.09310	N	1	B	0.19445	0.036	B	0.09377	0.004	T	0.17410	-1.0370	10	0.25106	T	0.35	-24.8684	7.1915	0.25828	0.3167:0.6047:0.0:0.0786	.	152	Q8IVN8	RPESP_HUMAN	Q	152	ENSP00000297354:R152Q	ENSP00000297354:R152Q	R	-	2	0	C8orf84	74146614	0.027000	0.19231	0.024000	0.17045	0.062000	0.15995	1.089000	0.30890	1.514000	0.48869	0.655000	0.94253	CGA		0.398	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225	
LY96	23643	broad.mit.edu	37	8	74939065	74939065	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:74939065A>C	ENST00000284818.2	+	4	464	c.373A>C	c.(373-375)Aaa>Caa	p.K125Q	LY96_ENST00000518893.1_Missense_Mutation_p.K95Q	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	125					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)	p.K125Q(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CAAGGGAATAAAATTTTCTAA	0.303																																					p.K125Q	GBM(131;1357 1748 34893 50149 52212)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A373C	8						.						81.0	79.0	80.0					8																	74939065		2203	4297	6500	75101619	SO:0001583	missense	23643	exon4			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.373A>C	8.37:g.74939065A>C	ENSP00000284818:p.Lys125Gln		75101619	NM_015364	B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.451228	0.01080	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.75154	-0.91;-0.91	3.64	0.427	0.16489	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	2.013910	0.02491	N	0.089504	T	0.64349	0.2590	L	0.34521	1.04	0.09310	N	1	B	0.20052	0.041	B	0.18263	0.021	T	0.42430	-0.9452	10	0.14252	T	0.57	0.0311	9.8888	0.41276	0.5336:0.4664:0.0:0.0	.	125	Q9Y6Y9	LY96_HUMAN	Q	125;95	ENSP00000284818:K125Q;ENSP00000430533:K95Q	ENSP00000284818:K125Q	K	+	1	0	LY96	75101619	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.021000	0.12504	0.067000	0.16545	-0.316000	0.08728	AAA		0.303	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364	
PI15	51050	broad.mit.edu	37	8	75737672	75737672	+	Missense_Mutation	SNP	C	C	T	rs192682386		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:75737672C>T	ENST00000260113.2	+	2	367	c.188C>T	c.(187-189)tCg>tTg	p.S63L	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.S63L	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	63						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)	p.S63L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CGCTACATTTCGCAGAATGAC	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19096	0.0		0.0	False		,,,				2504	0.0				p.S63L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C188T	8						.	C	LEU/SER	0,4406		0,0,2203	75.0	67.0	70.0		188	5.3	1.0	8		70	1,8599	1.2+/-3.3	0,1,4299	no	missense	PI15	NM_015886.3	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	63/259	75737672	1,13005	2203	4300	6503	75900227	SO:0001583	missense	51050	exon2			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.188C>T	8.37:g.75737672C>T	ENSP00000260113:p.Ser63Leu		75900227	NM_015886	Q68CY1	Missense_Mutation	SNP	ENST00000260113.2	37	CCDS6218.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	21.7	4.186797	0.78789	0.0	1.16E-4	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.11277	2.79;2.79	5.35	5.35	0.76521	CAP domain (2);	0.124780	0.53938	D	0.000042	T	0.28499	0.0705	M	0.68593	2.085	0.58432	D	0.999999	D	0.76494	0.999	P	0.56865	0.808	T	0.00153	-1.1982	10	0.51188	T	0.08	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	63	O43692	PI15_HUMAN	L	63	ENSP00000260113:S63L;ENSP00000428567:S63L	ENSP00000260113:S63L	S	+	2	0	PI15	75900227	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.699000	0.68310	2.941000	0.99782	0.655000	0.94253	TCG		0.433	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	
ZFHX4	79776	broad.mit.edu	37	8	77761352	77761352	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:77761352C>A	ENST00000521891.2	+	7	4081	c.3633C>A	c.(3631-3633)ttC>ttA	p.F1211L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.F1166L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F1185L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F1166L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.F1211L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAATAAATTCTGTCATGAAC	0.383										HNSCC(33;0.089)																											p.F1211L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3633A	8						.						48.0	48.0	48.0					8																	77761352		1822	4064	5886	77923907	SO:0001583	missense	79776	exon7				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3633C>A	8.37:g.77761352C>A	ENSP00000430497:p.Phe1211Leu		77923907	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913842	0.33815	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47177	0.85;0.9;0.87;0.86	4.85	1.04	0.20106	.	0.000000	0.45867	U	0.000330	T	0.20333	0.0489	N	0.08118	0	0.34184	D	0.671254	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.20140	-1.0284	10	0.10902	T	0.67	.	6.7652	0.23562	0.0:0.3769:0.0:0.6231	.	1166;1166;1211	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	1211;1211;1166;1166;1185	ENSP00000430497:F1211L;ENSP00000399605:F1166L;ENSP00000050961:F1166L;ENSP00000430848:F1185L	ENSP00000050961:F1166L	F	+	3	2	ZFHX4	77923907	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.367000	0.20382	0.338000	0.23692	0.650000	0.86243	TTC		0.383	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77764181	77764181	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:77764181C>T	ENST00000521891.2	+	10	5472	c.5024C>T	c.(5023-5025)aCt>aTt	p.T1675I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T1630I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T1649I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T1630I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1630	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.T1675I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAAAGCAAACTCCTGATTTA	0.438										HNSCC(33;0.089)																											p.T1675I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5024T	8						.						94.0	94.0	94.0					8																	77764181		1977	4158	6135	77926736	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5024C>T	8.37:g.77764181C>T	ENSP00000430497:p.Thr1675Ile		77926736	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790983	0.31685	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50277	0.75;0.81;0.77;0.77	4.41	1.44	0.22558	.	0.341934	0.21155	U	0.079256	T	0.40015	0.1100	L	0.46157	1.445	0.40396	D	0.979593	B;B;B	0.31859	0.232;0.343;0.343	B;B;B	0.29942	0.051;0.109;0.109	T	0.25082	-1.0142	10	0.30854	T	0.27	.	15.2577	0.73599	0.0:0.5996:0.4004:0.0	.	1630;1630;1675	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	1675;1675;1630;1630;1649	ENSP00000430497:T1675I;ENSP00000399605:T1630I;ENSP00000050961:T1630I;ENSP00000430848:T1649I	ENSP00000050961:T1630I	T	+	2	0	ZFHX4	77926736	1.000000	0.71417	0.983000	0.44433	0.978000	0.69477	2.287000	0.43505	0.179000	0.19938	0.542000	0.68232	ACT		0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77766835	77766835	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:77766835C>T	ENST00000521891.2	+	10	8126	c.7678C>T	c.(7678-7680)Ccc>Tcc	p.P2560S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2515S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2534S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2515S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P2544S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACTCAAATGCCCCCTCAGGC	0.498										HNSCC(33;0.089)																											p.P2560S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C7678T	8						.						79.0	78.0	78.0					8																	77766835		1944	4129	6073	77929390	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7678C>T	8.37:g.77766835C>T	ENSP00000430497:p.Pro2560Ser		77929390	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	3.722	-0.057255	0.07317	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51071	0.72;0.78;0.75;0.74	5.38	4.5	0.54988	.	0.000000	0.44285	U	0.000480	T	0.46852	0.1414	L	0.55834	1.745	0.58432	D	0.999998	B;B;B	0.31790	0.145;0.34;0.34	B;B;B	0.38225	0.066;0.268;0.268	T	0.43475	-0.9389	10	0.37606	T	0.19	.	11.9113	0.52741	0.1374:0.7303:0.1323:0.0	.	2515;2515;2560	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2560;2544;2515;2515;2534	ENSP00000430497:P2560S;ENSP00000399605:P2515S;ENSP00000050961:P2515S;ENSP00000430848:P2534S	ENSP00000050961:P2515S	P	+	1	0	ZFHX4	77929390	1.000000	0.71417	0.989000	0.46669	0.004000	0.04260	3.865000	0.56033	1.480000	0.48289	-0.181000	0.13052	CCC		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
ZFHX4	79776	broad.mit.edu	37	8	77768353	77768353	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:77768353C>T	ENST00000521891.2	+	10	9644	c.9196C>T	c.(9196-9198)Cgt>Tgt	p.R3066C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3021C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3040C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3021C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3021	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R3050C(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAACTTGATCGTATAAAGAA	0.547										HNSCC(33;0.089)																											p.R3066C												.	.	2	Substitution - Missense(2)	large_intestine(1)|breast(1)	c.C9196T	8						.						111.0	112.0	112.0					8																	77768353		2045	4199	6244	77930908	SO:0001583	missense	79776	exon10				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9196C>T	8.37:g.77768353C>T	ENSP00000430497:p.Arg3066Cys		77930908	NM_024721	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365097	0.61513	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58506	0.33;0.4;0.33;0.35	5.33	5.33	0.75918	.	0.000000	0.44483	U	0.000447	T	0.76622	0.4013	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.78280	-0.2265	10	0.87932	D	0	.	19.215	0.93772	0.0:1.0:0.0:0.0	.	3021;3021;3066	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	3066;3050;3021;3021;3040	ENSP00000430497:R3066C;ENSP00000399605:R3021C;ENSP00000050961:R3021C;ENSP00000430848:R3040C	ENSP00000050961:R3021C	R	+	1	0	ZFHX4	77930908	1.000000	0.71417	0.966000	0.40874	0.912000	0.54170	7.635000	0.83286	2.777000	0.95525	0.655000	0.94253	CGT		0.547	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
SLC10A5	347051	broad.mit.edu	37	8	82607051	82607051	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:82607051T>C	ENST00000518568.1	-	1	1358	c.157A>G	c.(157-159)Aaa>Gaa	p.K53E		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	53						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.K53E(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						TTAGGCCGTTTATTTTCGTAG	0.363																																					p.K53E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A157G	8						.						120.0	115.0	117.0					8																	82607051		2202	4300	6502	82769606	SO:0001583	missense	347051	exon1				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.157A>G	8.37:g.82607051T>C	ENSP00000428612:p.Lys53Glu		82769606	NM_001010893	B2RN26	Missense_Mutation	SNP	ENST00000518568.1	37	CCDS34915.1	.	.	.	.	.	.	.	.	.	.	T	4.957	0.177865	0.09443	.	.	ENSG00000253598	ENST00000518568	T	0.09538	2.97	6.07	3.7	0.42460	.	0.429859	0.19648	N	0.109282	T	0.07188	0.0182	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.34527	-0.9825	10	0.33141	T	0.24	-5.6476	6.4339	0.21813	0.0:0.0796:0.1578:0.7627	.	53	Q5PT55	NTCP5_HUMAN	E	53	ENSP00000428612:K53E	ENSP00000428612:K53E	K	-	1	0	SLC10A5	82769606	0.007000	0.16637	0.001000	0.08648	0.063000	0.16089	1.416000	0.34759	0.534000	0.28695	0.533000	0.62120	AAA		0.363	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493	
RALYL	138046	broad.mit.edu	37	8	85441798	85441798	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:85441798C>T	ENST00000521268.1	+	2	1347	c.242C>T	c.(241-243)gCc>gTc	p.A81V	RALYL_ENST00000522455.1_Missense_Mutation_p.A81V|RALYL_ENST00000518566.1_Missense_Mutation_p.A81V|RALYL_ENST00000517638.1_Missense_Mutation_p.A94V|RALYL_ENST00000521695.1_Missense_Mutation_p.A81V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	81	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A81V(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AGAGTCATCGCCGGCCAACCA	0.433																																					p.A81V												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C242T	8						.						48.0	51.0	50.0					8																	85441798		2034	4197	6231	85604353	SO:0001583	missense	138046	exon3				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.242C>T	8.37:g.85441798C>T	ENSP00000430367:p.Ala81Val		85604353	NM_001100392	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555476	0.86231	.	.	ENSG00000184672	ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.063063	0.64402	D	0.000008	T	0.34250	0.0891	M	0.62088	1.915	0.80722	D	1	B;B;P	0.49862	0.062;0.08;0.929	B;B;P	0.56865	0.1;0.059;0.808	T	0.00822	-1.1552	10	0.48119	T	0.1	.	15.2153	0.73261	0.0:0.8597:0.1403:0.0	.	81;94;81	B3KT61;G3V129;Q86SE5	.;.;RALYL_HUMAN	V	81;81;81;81;81;81;94	ENSP00000427787:A81V;ENSP00000430394:A81V;ENSP00000428667:A81V;ENSP00000430367:A81V;ENSP00000430065:A81V;ENSP00000428711:A81V;ENSP00000430128:A94V	ENSP00000430128:A94V	A	+	2	0	RALYL	85604353	1.000000	0.71417	0.847000	0.33407	0.945000	0.59286	4.842000	0.62831	2.732000	0.93576	0.551000	0.68910	GCC		0.433	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		
RALYL	138046	broad.mit.edu	37	8	85799987	85799987	+	Silent	SNP	C	C	T	rs141463549		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:85799987C>T	ENST00000521268.1	+	8	1939	c.834C>T	c.(832-834)ttC>ttT	p.F278F	RALYL_ENST00000522455.1_Silent_p.F278F|RALYL_ENST00000523850.1_Silent_p.F205F|RALYL_ENST00000518566.1_Silent_p.F267F|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Silent_p.F291F|RALYL_ENST00000521695.1_Silent_p.F278F	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	278							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F278F(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AGGAGGACTTCGATGAAGATG	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18511	0.0		0.0	False		,,,				2504	0.0				p.F278F												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C834T	8						.						142.0	146.0	145.0					8																	85799987		2007	4175	6182	85962542	SO:0001819	synonymous_variant	138046	exon9				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.834C>T	8.37:g.85799987C>T			85962542	NM_001100392	B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	CCDS55253.1																																																																																				0.458	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		
LRRCC1	85444	broad.mit.edu	37	8	86035667	86035667	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:86035667A>G	ENST00000360375.3	+	7	1099	c.950A>G	c.(949-951)aAc>aGc	p.N317S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.N297S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	317					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N317S(1)|p.N297S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCAATAGATAACGTTCTTGAG	0.289																																					p.N317S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A950G	8						.						61.0	62.0	62.0					8																	86035667		1793	4062	5855	86222919	SO:0001583	missense	85444	exon7			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.950A>G	8.37:g.86035667A>G	ENSP00000353538:p.Asn317Ser		86222919	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	4.356	0.065587	0.08388	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.29917	1.55;1.55	5.83	2.02	0.26589	.	0.178890	0.27072	N	0.021076	T	0.29458	0.0734	M	0.72118	2.19	0.09310	N	1	B;P;B;P	0.44241	0.137;0.829;0.137;0.731	B;B;B;B	0.42625	0.058;0.393;0.058;0.175	T	0.14504	-1.0470	10	0.22706	T	0.39	-7.3611	6.4999	0.22164	0.4797:0.3859:0.1344:0.0	.	224;297;224;317	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	S	224;317;297	ENSP00000353538:N317S;ENSP00000394695:N297S	ENSP00000353538:N317S	N	+	2	0	LRRCC1	86222919	0.513000	0.26194	0.670000	0.29842	0.150000	0.21749	1.021000	0.30040	0.101000	0.17610	0.528000	0.53228	AAC		0.289	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
ATP6V0D2	245972	broad.mit.edu	37	8	87151753	87151753	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:87151753G>T	ENST00000285393.3	+	3	512	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	124					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.E124K(1)|p.E124*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ATCTGTGAAAGAAATTCTGGG	0.428																																					p.E124X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|lung(1)	c.G370T	8						.						108.0	110.0	109.0					8																	87151753		2203	4300	6503	87220869	SO:0001587	stop_gained	245972	exon3			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.370G>T	8.37:g.87151753G>T	ENSP00000285393:p.Glu124*		87220869	NM_152565		Nonsense_Mutation	SNP	ENST00000285393.3	37	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	G	38	6.663540	0.97743	.	.	ENSG00000147614	ENST00000285393	.	.	.	6.02	5.11	0.69529	.	0.161011	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.2103	15.4709	0.75439	0.0:0.0:0.8611:0.1389	.	.	.	.	X	124	.	ENSP00000285393:E124X	E	+	1	0	ATP6V0D2	87220869	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	9.113000	0.94321	2.857000	0.98124	0.650000	0.86243	GAA		0.428	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565	
WWP1	11059	broad.mit.edu	37	8	87393792	87393792	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:87393792G>A	ENST00000517970.1	+	5	575	c.268G>A	c.(268-270)Gca>Aca	p.A90T	WWP1_ENST00000341922.2_Missense_Mutation_p.A90T|WWP1_ENST00000265428.4_Missense_Mutation_p.A90T|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	90	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A90T(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CACTTTAAAAGCAGATGCTTT	0.333																																					p.A90T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G268A	8						.						71.0	73.0	72.0					8																	87393792		2203	4300	6503	87462908	SO:0001583	missense	11059	exon5			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.268G>A	8.37:g.87393792G>A	ENSP00000427793:p.Ala90Thr		87462908	NM_007013	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628689	0.46944	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000436619	T;T;T	0.67345	-0.26;-0.26;-0.26	4.83	3.92	0.45320	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.129708	0.51477	D	0.000097	T	0.75451	0.3851	L	0.51422	1.61	0.80722	D	1	D	0.61697	0.99	D	0.66084	0.941	T	0.76589	-0.2904	10	0.52906	T	0.07	.	14.4284	0.67233	0.0:0.0:0.8513:0.1487	.	90	Q9H0M0	WWP1_HUMAN	T	90	ENSP00000427793:A90T;ENSP00000265428:A90T;ENSP00000340564:A90T	ENSP00000265428:A90T	A	+	1	0	WWP1	87462908	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.740000	0.62087	1.083000	0.41159	0.467000	0.42956	GCA		0.333	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
CPNE3	8895	broad.mit.edu	37	8	87570620	87570620	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:87570620G>A	ENST00000521271.1	+	17	1758	c.1596G>A	c.(1594-1596)acG>acA	p.T532T	CPNE3_ENST00000198765.4_Silent_p.T532T	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	532					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.T532T(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ACCCAGCCACGAAACAACAGA	0.463																																					p.T532T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1596A	8						.						118.0	109.0	112.0					8																	87570620		2203	4300	6503	87639736	SO:0001819	synonymous_variant	8895	exon17			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1596G>A	8.37:g.87570620G>A			87639736	NM_003909	A8KA47|Q8IYA1	Silent	SNP	ENST00000521271.1	37	CCDS6243.1																																																																																				0.463	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1		
CNGB3	54714	broad.mit.edu	37	8	87645036	87645036	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:87645036A>C	ENST00000320005.5	-	11	1311	c.1264T>G	c.(1264-1266)Ttt>Gtt	p.F422V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	422					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.F422V(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAGAGTTGAAAAACAATTTCA	0.358																																					p.F422V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1264G	8						.						57.0	58.0	58.0					8																	87645036		2203	4298	6501	87714152	SO:0001583	missense	54714	exon11			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1264T>G	8.37:g.87645036A>C	ENSP00000316605:p.Phe422Val		87714152	NM_019098	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.894763	0.91962	.	.	ENSG00000170289	ENST00000320005	D	0.98075	-4.7	5.12	5.12	0.69794	.	0.158617	0.51477	D	0.000089	D	0.98670	0.9554	M	0.88512	2.96	0.80722	D	1	D;P	0.53312	0.959;0.933	P;P	0.62014	0.835;0.897	D	0.99445	1.0939	10	0.59425	D	0.04	.	15.2136	0.73247	1.0:0.0:0.0:0.0	.	422;422	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	V	422	ENSP00000316605:F422V	ENSP00000316605:F422V	F	-	1	0	CNGB3	87714152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.056000	0.61249	0.482000	0.46254	TTT		0.358	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
DCAF4L2	138009	broad.mit.edu	37	8	88885907	88885907	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:88885907T>C	ENST00000319675.3	-	1	389	c.293A>G	c.(292-294)aAg>aGg	p.K98R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	98								p.K98R(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GATGCCGTACTTGGAGCCTCC	0.542																																					p.K98R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A293G	8						.						159.0	147.0	151.0					8																	88885907		2203	4300	6503	88955023	SO:0001583	missense	138009	exon1			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.293A>G	8.37:g.88885907T>C	ENSP00000316496:p.Lys98Arg		88955023	NM_152418		Missense_Mutation	SNP	ENST00000319675.3	37	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.083151	0.55861	.	.	ENSG00000176566	ENST00000319675	T	0.70869	-0.52	1.91	1.91	0.25777	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.088711	0.85682	D	0.000000	T	0.78648	0.4316	M	0.70275	2.135	0.35450	D	0.795581	D	0.71674	0.998	D	0.72625	0.978	T	0.80086	-0.1529	10	0.46703	T	0.11	.	7.4328	0.27137	0.0:0.0:0.0:1.0	.	98	Q8NA75	DC4L2_HUMAN	R	98	ENSP00000316496:K98R	ENSP00000316496:K98R	K	-	2	0	DCAF4L2	88955023	1.000000	0.71417	0.013000	0.15412	0.023000	0.10783	4.987000	0.63857	0.622000	0.30249	0.377000	0.23210	AAG		0.542	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418	
OSGIN2	734	broad.mit.edu	37	8	90926357	90926357	+	Silent	SNP	G	G	A	rs146570031	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:90926357G>A	ENST00000297438.2	+	3	475	c.120G>A	c.(118-120)ccG>ccA	p.P40P	OSGIN2_ENST00000520659.1_Silent_p.P84P|OSGIN2_ENST00000451899.2_Silent_p.P84P	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	40					meiotic nuclear division (GO:0007126)			p.P40P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GCTACAGACCGTATTTATCAT	0.333													G|||	8	0.00159744	0.0	0.0	5008	,	,		17224	0.004		0.0	False		,,,				2504	0.0041				p.P40P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G120A	8						.	G	,	2,4404	4.2+/-10.8	0,2,2201	138.0	143.0	142.0		252,120	0.9	1.0	8	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	OSGIN2	NM_001126111.1,NM_004337.2	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	84/550,40/506	90926357	3,13003	2203	4300	6503	90995531	SO:0001819	synonymous_variant	734	exon3			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.120G>A	8.37:g.90926357G>A			90995531	NM_004337		Silent	SNP	ENST00000297438.2	37	CCDS6248.1																																																																																				0.333	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337	
OSGIN2	734	broad.mit.edu	37	8	90936903	90936903	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:90936903A>C	ENST00000297438.2	+	6	1016	c.661A>C	c.(661-663)Aag>Cag	p.K221Q	OSGIN2_ENST00000451899.2_Missense_Mutation_p.K265Q	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	221					meiotic nuclear division (GO:0007126)			p.K221Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TATTTCAACAAAGCATTTACA	0.363																																					p.K221Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A661C	8						.						93.0	99.0	97.0					8																	90936903		2203	4299	6502	91006078	SO:0001583	missense	734	exon6			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.661A>C	8.37:g.90936903A>C	ENSP00000297438:p.Lys221Gln		91006078	NM_004337		Missense_Mutation	SNP	ENST00000297438.2	37	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	A	1.861	-0.462522	0.04508	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.23552	1.91;1.9	5.01	-1.17	0.09648	.	0.613987	0.17309	N	0.178950	T	0.06962	0.0177	N	0.00926	-1.1	0.40039	D	0.975621	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.33803	-0.9854	10	0.15952	T	0.53	0.3328	9.8009	0.40764	0.1694:0.4455:0.3851:0.0	.	265;221	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	Q	221;265	ENSP00000297438:K221Q;ENSP00000396445:K265Q	ENSP00000297438:K221Q	K	+	1	0	OSGIN2	91006078	0.999000	0.42202	0.868000	0.34077	0.982000	0.71751	0.688000	0.25422	-0.165000	0.10908	0.454000	0.30748	AAG		0.363	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337	
SLC26A7	115111	broad.mit.edu	37	8	92346525	92346525	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:92346525T>G	ENST00000276609.3	+	6	884	c.645T>G	c.(643-645)atT>atG	p.I215M	SLC26A7_ENST00000309536.2_Missense_Mutation_p.I215M|SLC26A7_ENST00000523719.1_Missense_Mutation_p.I215M	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.I215M(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TACTGTAGATTTATGCATATG	0.333																																					p.I215M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T645G	8						.						111.0	104.0	106.0					8																	92346525		2202	4300	6502	92415701	SO:0001583	missense	115111	exon6			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.645T>G	8.37:g.92346525T>G	ENSP00000276609:p.Ile215Met		92415701	NM_134266		Missense_Mutation	SNP	ENST00000276609.3	37	CCDS6254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.87|16.87	3.241126|3.241126	0.58995|0.58995	.|.	.|.	ENSG00000147606|ENSG00000147606	ENST00000520818|ENST00000523719;ENST00000276609;ENST00000309536	.|D;D;D	.|0.93426	.|-3.22;-3.22;-3.22	5.58|5.58	-2.09|-2.09	0.07232|0.07232	.|Sulphate transporter (1);	.|0.073014	.|0.56097	.|D	.|0.000029	D|D	0.92202|0.92202	0.7527|0.7527	L|L	0.29908|0.29908	0.895|0.895	0.33017|0.33017	D|D	0.528394|0.528394	.|D;D	.|0.64830	.|0.992;0.994	.|P;D	.|0.66497	.|0.907;0.944	D|D	0.91118|0.91118	0.4927|0.4927	5|10	.|0.52906	.|T	.|0.07	.|.	12.1252|12.1252	0.53913|0.53913	0.0:0.4028:0.0:0.5972|0.0:0.4028:0.0:0.5972	.|.	.|215;215	.|Q8TE54-2;Q8TE54	.|.;S26A7_HUMAN	C|M	83|215	.|ENSP00000428849:I215M;ENSP00000276609:I215M;ENSP00000309504:I215M	.|ENSP00000276609:I215M	F|I	+|+	2|3	0|3	SLC26A7|SLC26A7	92415701|92415701	0.992000|0.992000	0.36948|0.36948	0.992000|0.992000	0.48379|0.48379	0.994000|0.994000	0.84299|0.84299	0.035000|0.035000	0.13797|0.13797	-0.268000|-0.268000	0.09312|0.09312	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.333	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
RUNX1T1	862	broad.mit.edu	37	8	93026829	93026829	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:93026829C>T	ENST00000523629.1	-	4	900	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R160H|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R122H|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R149H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R122H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	149	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R160H(1)|p.R112H(1)|p.R149H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACGAGGGTGCGAACTCTTTC	0.507																																					p.R149H												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G446A	8						.						120.0	112.0	115.0					8																	93026829		2203	4300	6503	93096005	SO:0001583	missense	862	exon5			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.446G>A	8.37:g.93026829C>T	ENSP00000428543:p.Arg149His		93096005	NM_001198626	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957546	0.92726	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	6.05	6.05	0.98169	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	M	0.70595	2.14	0.80722	D	1	P;D;D;D;D	0.76494	0.93;0.98;0.999;0.98;0.996	P;D;D;D;D	0.69479	0.565;0.949;0.964;0.949;0.917	T	0.73122	-0.4082	10	0.66056	D	0.02	-19.2647	20.6013	0.99457	0.0:1.0:0.0:0.0	.	160;160;122;149;122	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	H	149;122;149;112;112;112;160;122;112;149;112;149;112;149	ENSP00000428543:R149H;ENSP00000379520:R122H;ENSP00000265814:R149H;ENSP00000353504:R112H;ENSP00000390137:R112H;ENSP00000428742:R112H;ENSP00000402257:R160H;ENSP00000430728:R122H;ENSP00000429728:R112H;ENSP00000431094:R149H;ENSP00000427763:R112H;ENSP00000430204:R149H;ENSP00000429940:R112H;ENSP00000429532:R149H	ENSP00000265814:R149H	R	-	2	0	RUNX1T1	93096005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.878000	0.98634	0.650000	0.86243	CGC		0.507	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	
TMEM67	91147	broad.mit.edu	37	8	94821369	94821369	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:94821369C>A	ENST00000453321.3	+	25	2699	c.2641C>A	c.(2641-2643)Ctt>Att	p.L881I	TMEM67_ENST00000409623.3_Missense_Mutation_p.L800I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	881					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)	p.L871I(1)		breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GAATAAATTTCTTGGCTCCTT	0.308																																					p.L881I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2641A	8						.						96.0	97.0	97.0					8																	94821369		2203	4296	6499	94890545	SO:0001583	missense	91147	exon25			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2641C>A	8.37:g.94821369C>A	ENSP00000389998:p.Leu881Ile		94890545	NM_153704	B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	ENST00000453321.3	37	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984124	0.93044	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97906	-4.6;-4.6	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.98823	0.9603	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99737	1.1014	10	0.87932	D	0	-19.5815	19.8472	0.96713	0.0:1.0:0.0:0.0	.	881;800;800	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	I	881;800	ENSP00000389998:L881I;ENSP00000386966:L800I	ENSP00000314488:L871I	L	+	1	0	TMEM67	94890545	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.432000	0.80349	2.701000	0.92244	0.591000	0.81541	CTT		0.308	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704	
PDP1	54704	broad.mit.edu	37	8	94934671	94934671	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:94934671T>A	ENST00000297598.4	+	2	653	c.384T>A	c.(382-384)agT>agA	p.S128R	PDP1_ENST00000520728.1_Missense_Mutation_p.S128R|PDP1_ENST00000517764.1_Missense_Mutation_p.S128R|PDP1_ENST00000396200.3_Missense_Mutation_p.S153R	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	128					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.S128R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ACCGGAGAAGTGCAGCAACCT	0.478																																					p.S153R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T459A	8						.						74.0	77.0	76.0					8																	94934671		2203	4300	6503	95003847	SO:0001583	missense	54704	exon3			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.384T>A	8.37:g.94934671T>A	ENSP00000297598:p.Ser128Arg		95003847	NM_001161779	B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177613	0.57692	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000518573;ENST00000517764;ENST00000518827;ENST00000521144	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	6.03	-3.74	0.04385	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.04737	-1.0930	10	0.54805	T	0.06	-21.9567	15.965	0.79961	0.0:0.6138:0.0:0.3862	.	179;128	B4DYX8;Q9P0J1	.;PDP1_HUMAN	R	128;128;153;128;128;128;128	ENSP00000297598:S128R;ENSP00000428317:S128R;ENSP00000379503:S153R;ENSP00000430380:S128R;ENSP00000430655:S128R	ENSP00000297598:S128R	S	+	3	2	PDP1	95003847	0.621000	0.27077	0.991000	0.47740	0.995000	0.86356	-0.189000	0.09629	-0.390000	0.07774	0.455000	0.32223	AGT		0.478	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2	NM_018444	
CDH17	1015	broad.mit.edu	37	8	95164213	95164213	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:95164213A>G	ENST00000027335.3	-	13	1803	c.1679T>C	c.(1678-1680)gTg>gCg	p.V560A	CDH17_ENST00000441892.2_Missense_Mutation_p.V346A|CDH17_ENST00000450165.2_Missense_Mutation_p.V560A	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	560	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.V560A(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGCTTCATTCACATCTGTCAC	0.433																																					p.V560A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1679C	8						.						164.0	138.0	147.0					8																	95164213		2203	4300	6503	95233389	SO:0001583	missense	1015	exon13			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1679T>C	8.37:g.95164213A>G	ENSP00000027335:p.Val560Ala		95233389	NM_001144663	Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.183358	0.78677	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.62788	-0.0;-0.0;-0.0	5.67	5.67	0.87782	Cadherin (3);	0.134574	0.34046	N	0.004303	T	0.78935	0.4362	M	0.82193	2.58	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.984;0.997	T	0.77544	-0.2548	10	0.25106	T	0.35	-10.8	13.7348	0.62811	1.0:0.0:0.0:0.0	.	346;560	E7EN24;Q12864	.;CAD17_HUMAN	A	560;346;560	ENSP00000027335:V560A;ENSP00000392811:V346A;ENSP00000401468:V560A	ENSP00000027335:V560A	V	-	2	0	CDH17	95233389	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	6.340000	0.72973	2.288000	0.76882	0.533000	0.62120	GTG		0.433	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063	
RAD54B	25788	broad.mit.edu	37	8	95411776	95411776	+	Missense_Mutation	SNP	C	C	T	rs562637094		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:95411776C>T	ENST00000336148.5	-	8	1368	c.1244G>A	c.(1243-1245)cGt>cAt	p.R415H		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	415	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.R415H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATCCAGGGAACGAAGTAACAT	0.323								Direct reversal of damage;Homologous recombination																													p.R415H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1244A	8						.						52.0	52.0	52.0					8																	95411776		2203	4300	6503	95480952	SO:0001583	missense	25788	exon8			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1244G>A	8.37:g.95411776C>T	ENSP00000336606:p.Arg415His		95480952	NM_012415	F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797862	0.90538	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	D	0.93076	-3.16	5.55	4.68	0.58851	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96547	0.9405	10	0.44086	T	0.13	-11.2666	14.2478	0.65999	0.0:0.9285:0.0:0.0715	.	415	Q9Y620	RA54B_HUMAN	H	415;88	ENSP00000336606:R415H	ENSP00000336606:R415H	R	-	2	0	RAD54B	95480952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	1.348000	0.45733	0.585000	0.79938	CGT		0.323	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415	
KIAA1429	25962	broad.mit.edu	37	8	95538952	95538952	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:95538952A>G	ENST00000297591.5	-	8	1595	c.1520T>C	c.(1519-1521)tTg>tCg	p.L507S	KIAA1429_ENST00000437199.1_Missense_Mutation_p.L507S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L507S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	507					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L507S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GACACTGTCCAAAGCTTTAAA	0.363																																					p.L507S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1520C	8						.						58.0	60.0	59.0					8																	95538952		2203	4300	6503	95608128	SO:0001583	missense	25962	exon8			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1520T>C	8.37:g.95538952A>G	ENSP00000297591:p.Leu507Ser		95608128	NM_015496	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.640811	0.67244	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.61392	0.11;0.12;0.11	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	T	0.67664	0.2917	L	0.34521	1.04	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.71276	-0.4641	10	0.87932	D	0	-7.1539	15.9005	0.79373	1.0:0.0:0.0:0.0	.	507;507	Q69YN4-4;Q69YN4	.;VIR_HUMAN	S	507	ENSP00000297591:L507S;ENSP00000395600:L507S;ENSP00000398390:L507S	ENSP00000297591:L507S	L	-	2	0	KIAA1429	95608128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.155000	0.67459	0.460000	0.39030	TTG		0.363	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
CPQ	10404	broad.mit.edu	37	8	98155272	98155272	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:98155272A>G	ENST00000220763.5	+	8	1490	c.1280A>G	c.(1279-1281)tAc>tGc	p.Y427C	KB-1958F4.1_ENST00000602771.1_RNA	NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	427					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)	p.Y427C(1)									GATGACTTATACAAGTATTTC	0.443																																					p.Y427C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1280G	8						.						127.0	120.0	122.0					8																	98155272		2203	4300	6503	98224448	SO:0001583	missense	10404	exon8			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.1280A>G	8.37:g.98155272A>G	ENSP00000220763:p.Tyr427Cys		98224448	NM_016134	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	ENST00000220763.5	37	CCDS6273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.54|13.54	2.268363|2.268363	0.40095|0.40095	.|.	.|.	ENSG00000104324|ENSG00000104324	ENST00000522617|ENST00000220763	.|T	.|0.43294	.|0.95	5.65|5.65	1.55|1.55	0.23275|0.23275	.|Peptidase M28 (1);	.|0.665977	.|0.14565	.|N	.|0.311795	T|T	0.25717|0.25717	0.0626|0.0626	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|P	.|0.44380	.|0.834	.|B	.|0.37047	.|0.24	T|T	0.15636|0.15636	-1.0430|-1.0430	5|10	.|0.38643	.|T	.|0.18	-17.5081|-17.5081	1.0656|1.0656	0.01610|0.01610	0.4839:0.1308:0.1328:0.2526|0.4839:0.1308:0.1328:0.2526	.|.	.|427	.|Q9Y646	.|PGCP_HUMAN	A|C	85|427	.|ENSP00000220763:Y427C	.|ENSP00000220763:Y427C	T|Y	+|+	1|2	0|0	AC010859.1|AC010859.1	98224448|98224448	0.947000|0.947000	0.32204|0.32204	0.007000|0.007000	0.13788|0.13788	0.847000|0.847000	0.48162|0.48162	1.621000|1.621000	0.36986|0.36986	0.373000|0.373000	0.24621|0.24621	0.529000|0.529000	0.55759|0.55759	ACA|TAC		0.443	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379757.2	NM_016134	
MATN2	4147	broad.mit.edu	37	8	99033468	99033468	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:99033468G>A	ENST00000520016.1	+	12	1979	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	MATN2_ENST00000522025.2_Missense_Mutation_p.E335K|MATN2_ENST00000521689.1_Missense_Mutation_p.E619K|MATN2_ENST00000254898.5_Missense_Mutation_p.E619K|MATN2_ENST00000524308.1_Missense_Mutation_p.E578K			O00339	MATN2_HUMAN	matrilin 2	619	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E619K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCATGGCTGCGAACACATTTG	0.433																																					p.E619K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1855A	8						.						117.0	112.0	114.0					8																	99033468		1899	4120	6019	99102644	SO:0001583	missense	4147	exon13			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1855G>A	8.37:g.99033468G>A	ENSP00000430487:p.Glu619Lys		99102644	NM_030583	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.803944|3.803944	0.70682|0.70682	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154	D;D;D;D;D|.	0.96830|.	-4.14;-4.14;-4.14;-4.14;-4.14|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Epidermal growth factor-like (1);|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.79511|0.79511	0.4458|0.4458	M|M	0.82630|0.82630	2.6|2.6	0.54753|0.54753	D|D	0.999989|0.999989	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.83275|.	0.991;0.994;0.996;0.994|.	T|T	0.80301|0.80301	-0.1440|-0.1440	10|5	0.72032|.	D|.	0.01|.	-26.7817|-26.7817	18.0216|18.0216	0.89257|0.89257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	578;619;619;619|.	C9JH87;E9PF03;O00339-2;O00339|.	.;.;.;MATN2_HUMAN|.	K|Q	619;619;578;578;335;619|401	ENSP00000429977:E619K;ENSP00000254898:E619K;ENSP00000430221:E578K;ENSP00000429010:E335K;ENSP00000430487:E619K|.	ENSP00000254898:E619K|.	E|R	+|+	1|2	0|0	MATN2|MATN2	99102644|99102644	1.000000|1.000000	0.71417|0.71417	0.131000|0.131000	0.22000|0.22000	0.026000|0.026000	0.11368|0.11368	4.443000|4.443000	0.59994|0.59994	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.433	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
MATN2	4147	broad.mit.edu	37	8	99039682	99039682	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:99039682G>A	ENST00000520016.1	+	13	2105	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	MATN2_ENST00000522025.2_Missense_Mutation_p.D377N|MATN2_ENST00000521689.1_Missense_Mutation_p.D661N|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.D661N|MATN2_ENST00000524308.1_Missense_Mutation_p.D620N			O00339	MATN2_HUMAN	matrilin 2	661	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.D661N(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTTTGTGATCGATGGATCCAA	0.403																																					p.D661N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1981A	8						.						93.0	92.0	93.0					8																	99039682		1845	4091	5936	99108858	SO:0001583	missense	4147	exon14			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1981G>A	8.37:g.99039682G>A	ENSP00000430487:p.Asp661Asn		99108858	NM_030583	A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.116465|5.116465	0.94385|0.94385	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154;ENST00000517321	D;D;D;D;D|.	0.97976|.	-4.64;-4.64;-4.64;-4.64;-4.64|.	5.0|5.0	5.0|5.0	0.66597|0.66597	von Willebrand factor, type A (3);|.	0.000000|.	0.64402|.	D|.	0.000009|.	D|D	0.91395|0.91395	0.7285|0.7285	H|H	0.99182|0.99182	4.46|4.46	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.995;0.996|.	D|D	0.95128|0.95128	0.8252|0.8252	10|5	0.41790|.	T|.	0.15|.	-26.1898|-26.1898	18.642|18.642	0.91398|0.91398	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	661;661;661|.	E9PF03;O00339-2;O00339|.	.;.;MATN2_HUMAN|.	N|Q	661;661;620;620;377;661|443;94	ENSP00000429977:D661N;ENSP00000254898:D661N;ENSP00000430221:D620N;ENSP00000429010:D377N;ENSP00000430487:D661N|.	ENSP00000254898:D661N|.	D|R	+|+	1|2	0|0	MATN2|MATN2	99108858|99108858	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.960000|0.960000	0.62799|0.62799	9.869000|9.869000	0.99810|0.99810	2.478000|2.478000	0.83669|0.83669	0.484000|0.484000	0.47621|0.47621	GAT|CGA		0.403	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1		
ZNF16	7564	broad.mit.edu	37	8	146157691	146157691	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr8:146157691C>T	ENST00000276816.4	-	4	668	c.482G>A	c.(481-483)cGc>cAc	p.R161H	ZNF16_ENST00000394909.2_Missense_Mutation_p.R161H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	161	Necessary for transcription activation.				cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R161H(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CAGACTGAAGCGACTGTCAAA	0.552																																					p.R161H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G482A	8						.						152.0	148.0	149.0					8																	146157691		2203	4300	6503	146128495	SO:0001583	missense	7564	exon3			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.482G>A	8.37:g.146157691C>T	ENSP00000276816:p.Arg161His		146128495	NM_006958	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470127	0.26423	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351	T;T;T	0.29142	1.58;1.58;4.59	3.86	-3.3	0.05003	.	.	.	.	.	T	0.20981	0.0505	L	0.41824	1.3	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24261	-1.0165	9	0.56958	D	0.05	.	6.0716	0.19893	0.0:0.4574:0.1237:0.4189	.	161	P17020	ZNF16_HUMAN	H	161	ENSP00000276816:R161H;ENSP00000378369:R161H;ENSP00000434321:R161H	ENSP00000276816:R161H	R	-	2	0	ZNF16	146128495	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-0.990000	0.03732	-0.942000	0.03695	-0.369000	0.07265	CGC		0.552	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1	NM_006958	
GABBR2	9568	broad.mit.edu	37	9	101073404	101073404	+	Silent	SNP	G	G	A	rs140073399		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:101073404G>A	ENST00000259455.2	-	14	2436	c.1977C>T	c.(1975-1977)atC>atT	p.I659I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	659					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.I659I(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGCATAGACGATGCCAAGCC	0.567																																					p.I659I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1977T	9						.	G		5,4401	9.9+/-24.2	0,5,2198	130.0	106.0	114.0		1977	-1.0	1.0	9	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	GABBR2	NM_005458.7		0,5,6498	AA,AG,GG		0.0,0.1135,0.0384		659/942	101073404	5,13001	2203	4300	6503	100113225	SO:0001819	synonymous_variant	9568	exon14			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1977C>T	9.37:g.101073404G>A			100113225	NM_005458	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	CCDS6736.1																																																																																				0.567	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		
GALNT12	79695	broad.mit.edu	37	9	101597634	101597634	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:101597634G>A	ENST00000375011.3	+	5	1021	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	341	Catalytic subdomain B.		E -> D (in CRCS1; somatic mutation; loss of activity). {ECO:0000269|PubMed:19617566}.		cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E341K(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AGAAAACCTCGAATTTTCCTT	0.418																																					p.E341K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1021A	9						.						164.0	171.0	168.0					9																	101597634		2203	4300	6503	100637455	SO:0001583	missense	79695	exon5			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1021G>A	9.37:g.101597634G>A	ENSP00000364150:p.Glu341Lys		100637455	NM_024642	Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	33	5.227143	0.95173	.	.	ENSG00000119514	ENST00000375011	T	0.63255	-0.03	5.28	5.28	0.74379	.	0.089089	0.85682	D	0.000000	D	0.86100	0.5852	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.90568	0.4520	10	0.87932	D	0	.	16.7723	0.85541	0.0:0.0:1.0:0.0	.	341	Q8IXK2	GLT12_HUMAN	K	341	ENSP00000364150:E341K	ENSP00000364150:E341K	E	+	1	0	GALNT12	100637455	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.642000	0.89623	0.655000	0.94253	GAA		0.418	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642	
COL15A1	1306	broad.mit.edu	37	9	101832015	101832015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:101832015C>A	ENST00000375001.3	+	42	4437	c.4014C>A	c.(4012-4014)taC>taA	p.Y1338*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1338	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.Y1338*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGGATAACTACTGTGAAGCAT	0.517																																					p.Y1338X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4014A	9						.						108.0	110.0	109.0					9																	101832015		2203	4300	6503	100871836	SO:0001587	stop_gained	1306	exon42			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.4014C>A	9.37:g.101832015C>A	ENSP00000364140:p.Tyr1338*		100871836	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Nonsense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	45	11.835703	0.99608	.	.	ENSG00000204291	ENST00000375001	.	.	.	6.17	6.17	0.99709	.	0.056575	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6259	12.9056	0.58149	0.0:0.9255:0.0:0.0745	.	.	.	.	X	1338	.	ENSP00000364140:Y1338X	Y	+	3	2	COL15A1	100871836	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.082000	0.57635	2.941000	0.99782	0.655000	0.94253	TAC		0.517	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	
TGFBR1	7046	broad.mit.edu	37	9	101891176	101891176	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:101891176T>G	ENST00000374994.4	+	2	254	c.137T>G	c.(136-138)tTt>tGt	p.F46C	TGFBR1_ENST00000550253.1_5'UTR|TGFBR1_ENST00000374990.2_Missense_Mutation_p.F46C|TGFBR1_ENST00000552516.1_Missense_Mutation_p.F46C	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	46					activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.F46C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AAAGACAATTTTACTTGTGTG	0.368																																					p.F46C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T137G	9						.						81.0	80.0	80.0					9																	101891176		2203	4300	6503	100930997	SO:0001583	missense	7046	exon2				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.137T>G	9.37:g.101891176T>G	ENSP00000364133:p.Phe46Cys		100930997	NM_004612	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075688	0.36662	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000546096;ENST00000546584	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	6.08	0.0172	0.14111	TGF-beta receptor/activin receptor, type I/II (1);	0.416661	0.30575	N	0.009336	D	0.94056	0.8095	L	0.43923	1.385	0.80722	D	1	P;B	0.39624	0.681;0.002	B;B	0.37346	0.247;0.013	D	0.89379	0.3680	10	0.59425	D	0.04	.	7.6967	0.28598	0.4949:0.0:0.097:0.408	.	46;46	P36897-3;P36897	.;TGFR1_HUMAN	C	46;46;46;46;31;43	ENSP00000364133:F46C;ENSP00000364129:F46C;ENSP00000447297:F46C;ENSP00000447707:F43C	ENSP00000364129:F46C	F	+	2	0	TGFBR1	100930997	0.999000	0.42202	0.979000	0.43373	0.996000	0.88848	1.181000	0.32017	0.125000	0.18397	0.482000	0.46254	TTT		0.368	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3		
TGFBR1	7046	broad.mit.edu	37	9	101900288	101900288	+	Missense_Mutation	SNP	C	C	T	rs111854391		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:101900288C>T	ENST00000374994.4	+	4	839	c.722C>T	c.(721-723)tCg>tTg	p.S241L	TGFBR1_ENST00000550253.1_Missense_Mutation_p.S172L|TGFBR1_ENST00000374990.2_Missense_Mutation_p.S164L|TGFBR1_ENST00000552516.1_Missense_Mutation_p.S245L	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> L (in LDS1). {ECO:0000269|PubMed:16596670, ECO:0000269|PubMed:16791849}.		activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.S241L(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GAAGAACGTTCGTGGTTCCGT	0.418																																					p.S241L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C722T	9	GRCh37	CM061221	TGFBR1	M	rs111854391	.						173.0	168.0	170.0					9																	101900288		2203	4300	6503	100940109	SO:0001583	missense	7046	exon4				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.722C>T	9.37:g.101900288C>T	ENSP00000364133:p.Ser241Leu		100940109	NM_004612	Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333411	0.95758	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.59	5.59	0.84812	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.83852	2.665	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84339	0.0526	8	.	.	.	.	18.3707	0.90406	0.0:1.0:0.0:0.0	.	164;241	P36897-3;P36897	.;TGFR1_HUMAN	L	241;241;164;245;95;172	ENSP00000364133:S241L;ENSP00000364129:S164L;ENSP00000447297:S245L;ENSP00000449028:S95L;ENSP00000450052:S172L	.	S	+	2	0	TGFBR1	100940109	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	7.773000	0.85462	2.642000	0.89623	0.650000	0.86243	TCG		0.418	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3		
ALG2	85365	broad.mit.edu	37	9	101980562	101980562	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:101980562G>T	ENST00000476832.1	-	2	966	c.905C>A	c.(904-906)tCt>tAt	p.S302Y	ALG2_ENST00000319033.6_Missense_Mutation_p.S209Y	NM_033087.3	NP_149078.1	O75340	PDCD6_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)	p.S302Y(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GTCTGAGAAAGACCTCAAGAA	0.478																																					p.S302Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C905A	9						.						103.0	82.0	89.0					9																	101980562		2203	4300	6503	101020383	SO:0001583	missense	85365	exon2			AK027417	CCDS6739.1	9q31.1	2013-02-22	2013-02-22		ENSG00000119523	ENSG00000119523	2.4.1.132, 2.4.1.257	"""Glycosyltransferase group 1 domain containing"""	23159	protein-coding gene	gene with protein product		607905	"""asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)"""			12684507	Standard	NR_024532		Approved	CDGIi, FLJ14511, hALPG2, NET38	uc004azf.3	Q9H553	OTTHUMG00000020355	ENST00000476832.1:c.905C>A	9.37:g.101980562G>T	ENSP00000417764:p.Ser302Tyr		101020383	NM_033087	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	Missense_Mutation	SNP	ENST00000476832.1	37	CCDS6739.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592530	0.86953	.	.	ENSG00000119523	ENST00000476832;ENST00000319033	T;T	0.78246	-1.16;-1.16	5.78	5.78	0.91487	Glycosyl transferase, family 1 (1);	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88297	0.2947	10	0.87932	D	0	-15.8012	20.3668	0.98882	0.0:0.0:1.0:0.0	.	209;302	Q9H553-2;Q9H553	.;ALG2_HUMAN	Y	302;209	ENSP00000417764:S302Y;ENSP00000326609:S209Y	ENSP00000432675:S209Y	S	-	2	0	ALG2	101020383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.894000	0.99253	0.655000	0.94253	TCT		0.478	ALG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215080.1	NM_033087	
TEX10	54881	broad.mit.edu	37	9	103109103	103109103	+	Nonsense_Mutation	SNP	C	C	A	rs540956040		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:103109103C>A	ENST00000374902.4	-	3	942	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	TEX10_ENST00000535814.1_Nonsense_Mutation_p.E259*|TEX10_ENST00000537512.1_Nonsense_Mutation_p.E191*	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	256						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.E256*(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGGGGATTTTCTTTCTGTTCC	0.458																																					p.E256X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G766T	9						.						184.0	179.0	181.0					9																	103109103		2203	4300	6503	102148924	SO:0001587	stop_gained	54881	exon3			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.766G>T	9.37:g.103109103C>A	ENSP00000364037:p.Glu256*		102148924	NM_017746	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Nonsense_Mutation	SNP	ENST00000374902.4	37	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	36	5.774556	0.96922	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	.	.	.	5.26	5.26	0.73747	.	0.256438	0.40302	N	0.001125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-12.6156	12.2501	0.54593	0.0:0.9223:0.0:0.0777	.	.	.	.	X	259;256;124;191	.	ENSP00000364037:E256X	E	-	1	0	TEX10	102148924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.398000	0.59697	2.450000	0.82876	0.655000	0.94253	GAA		0.458	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
TMEFF1	8577	broad.mit.edu	37	9	103334804	103334804	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:103334804G>A	ENST00000374879.4	+	9	1336	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	MSANTD3-TMEFF1_ENST00000502978.1_Silent_p.*265*|TMEFF1_ENST00000334943.6_Missense_Mutation_p.E263K	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	302	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E302K(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TTTCAGATGTGAATCTGGCTA	0.303																																					p.E302K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G904A	9						.						100.0	99.0	99.0					9																	103334804		2203	4300	6503	102374625	SO:0001583	missense	8577	exon9			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.904G>A	9.37:g.103334804G>A	ENSP00000364013:p.Glu302Lys		102374625	NM_003692	Q13086|Q8N3T8	Missense_Mutation	SNP	ENST00000374879.4	37	CCDS6750.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042326	0.75732	.	.	ENSG00000241697	ENST00000334943;ENST00000374879	T;T	0.28454	1.61;1.61	5.04	5.04	0.67666	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.049754	0.85682	D	0.000000	T	0.34832	0.0911	L	0.39898	1.24	0.50039	D	0.999849	P;P	0.40731	0.605;0.728	P;B	0.48089	0.566;0.297	T	0.03008	-1.1083	10	0.19590	T	0.45	-33.1248	15.8911	0.79299	0.0:0.0:1.0:0.0	.	302;263	Q8IYR6;Q8IYR6-2	TEFF1_HUMAN;.	K	263;302	ENSP00000334447:E263K;ENSP00000364013:E302K	ENSP00000334447:E263K	E	+	1	0	TMEFF1	102374625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.305000	0.77605	0.650000	0.86243	GAA		0.303	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692	
MURC	347273	broad.mit.edu	37	9	103340815	103340815	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:103340815C>A	ENST00000307584.5	+	1	455	c.390C>A	c.(388-390)ttC>ttA	p.F130L	RN7SKP87_ENST00000364096.1_RNA	NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.F130L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AAAACAAATTCCGCGTGGTAA	0.383																																					p.F130L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C390A	9						.						39.0	40.0	39.0					9																	103340815		2202	4296	6498	102380636	SO:0001583	missense	347273	exon1			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.390C>A	9.37:g.103340815C>A	ENSP00000418668:p.Phe130Leu		102380636	NM_001018116	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199303	0.58126	.	.	ENSG00000170681	ENST00000307584	T	0.61980	0.06	4.97	1.56	0.23342	.	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.77486	2.375	0.49483	D	0.999791	D	0.71674	0.998	D	0.80764	0.994	T	0.71530	-0.4565	10	0.37606	T	0.19	-13.978	10.1059	0.42533	0.0:0.6981:0.0:0.3018	.	130	Q5BKX8	MURC_HUMAN	L	130	ENSP00000418668:F130L	ENSP00000418668:F130L	F	+	3	2	MURC	102380636	1.000000	0.71417	0.993000	0.49108	0.910000	0.53928	1.188000	0.32102	0.241000	0.21283	-0.797000	0.03246	TTC		0.383	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
MURC	347273	broad.mit.edu	37	9	103348192	103348192	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:103348192C>T	ENST00000307584.5	+	2	619	c.554C>T	c.(553-555)gCc>gTc	p.A185V		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	185					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.A185V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AGCAGATCTGCCAGGCTTAGG	0.408																																					p.A185V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C554T	9						.						75.0	75.0	75.0					9																	103348192		2203	4300	6503	102388013	SO:0001583	missense	347273	exon2			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.554C>T	9.37:g.103348192C>T	ENSP00000418668:p.Ala185Val		102388013	NM_001018116	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528207	0.44969	.	.	ENSG00000170681	ENST00000307584	T	0.60299	0.2	5.16	4.2	0.49525	.	0.288276	0.37809	N	0.001926	T	0.51176	0.1659	L	0.46157	1.445	0.29793	N	0.833062	B	0.26809	0.16	B	0.31337	0.128	T	0.51252	-0.8729	10	0.33141	T	0.24	-4.0641	12.2102	0.54375	0.2119:0.7881:0.0:0.0	.	185	Q5BKX8	MURC_HUMAN	V	185	ENSP00000418668:A185V	ENSP00000418668:A185V	A	+	2	0	MURC	102388013	0.031000	0.19500	1.000000	0.80357	0.993000	0.82548	1.721000	0.38032	1.129000	0.42072	0.561000	0.74099	GCC		0.408	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
MURC	347273	broad.mit.edu	37	9	103348235	103348235	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:103348235G>T	ENST00000307584.5	+	2	662	c.597G>T	c.(595-597)aaG>aaT	p.K199N		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	199					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)		p.K199N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				ATAATATCAAGAAGGCATTTT	0.423																																					p.K199N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G597T	9						.						86.0	88.0	88.0					9																	103348235		2203	4300	6503	102388056	SO:0001583	missense	347273	exon2			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"""muscle-restricted coiled-coil protein"""					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.597G>T	9.37:g.103348235G>T	ENSP00000418668:p.Lys199Asn		102388056	NM_001018116	B1PRL3|B4DT88	Missense_Mutation	SNP	ENST00000307584.5	37	CCDS35083.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116401	0.56505	.	.	ENSG00000170681	ENST00000307584	T	0.70164	-0.46	5.09	1.5	0.22942	.	0.091152	0.64402	D	0.000001	T	0.69682	0.3138	M	0.77486	2.375	0.44221	D	0.997058	P	0.50272	0.933	P	0.49853	0.624	T	0.68424	-0.5412	10	0.87932	D	0	-19.6582	7.3924	0.26917	0.5952:0.0:0.4048:0.0	.	199	Q5BKX8	MURC_HUMAN	N	199	ENSP00000418668:K199N	ENSP00000418668:K199N	K	+	3	2	MURC	102388056	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	0.785000	0.26830	0.072000	0.16694	-0.367000	0.07326	AAG		0.423	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053419.2	NM_001018116	
GRIN3A	116443	broad.mit.edu	37	9	104356804	104356804	+	Intron	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:104356804C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.D137N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.D137N(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATGGTTTTGTCGACCAGCTGC	0.517																																					p.D137N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G409A	9						.						114.0	100.0	105.0					9																	104356804		2203	4300	6503	103396625	SO:0001627	intron_variant	5535	exon1				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15162G>A	9.37:g.104356804C>T			103396625	NM_147180	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952246	0.92660	.	.	ENSG00000188386	ENST00000374806	T	0.73681	-0.77	3.97	3.97	0.46021	EF-hand-like domain (1);	0.000000	0.44483	D	0.000457	T	0.80423	0.4620	L	0.39467	1.215	0.47276	D	0.999378	D	0.89917	1.0	D	0.91635	0.999	T	0.82386	-0.0483	10	0.87932	D	0	-28.5716	14.3488	0.66685	0.0:1.0:0.0:0.0	.	134	Q96LZ3	CANB2_HUMAN	N	137	ENSP00000363939:D137N	ENSP00000363939:D137N	D	-	1	0	PPP3R2	103396625	1.000000	0.71417	0.963000	0.40424	0.984000	0.73092	5.553000	0.67287	2.507000	0.84556	0.563000	0.77884	GAC		0.517	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
CYLC2	1539	broad.mit.edu	37	9	105757667	105757667	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:105757667C>T	ENST00000374798.3	+	1	75	c.5C>T	c.(4-6)tCt>tTt	p.S2F	CYLC2_ENST00000487798.1_Missense_Mutation_p.S2F	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	2					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.S2F(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GGGAAAATGTCTCTCCCAAGA	0.313																																					p.S2F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5T	9						.						111.0	111.0	111.0					9																	105757667		2203	4299	6502	104797488	SO:0001583	missense	1539	exon1			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.5C>T	9.37:g.105757667C>T	ENSP00000420256:p.Ser2Phe		104797488	NM_001340	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682558	0.47991	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.25250	1.81;1.81	4.18	4.18	0.49190	.	.	.	.	.	T	0.44477	0.1295	L	0.54323	1.7	0.34302	D	0.684449	D	0.89917	1.0	D	0.76071	0.987	T	0.56056	-0.8042	9	0.87932	D	0	-0.2204	12.2997	0.54868	0.0:1.0:0.0:0.0	.	2	Q14093	CYLC2_HUMAN	F	2	ENSP00000420256:S2F;ENSP00000417674:S2F	ENSP00000420256:S2F	S	+	2	0	CYLC2	104797488	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	2.862000	0.48388	2.615000	0.88500	0.555000	0.69702	TCT		0.313	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
CYLC2	1539	broad.mit.edu	37	9	105767007	105767007	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:105767007C>T	ENST00000374798.3	+	4	281	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	CYLC2_ENST00000487798.1_Missense_Mutation_p.R71C	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	71	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.R71C(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGAGGAGATCGTAGACAACC	0.363																																					p.R71C												.	.	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	c.C211T	9						.						78.0	75.0	76.0					9																	105767007		2203	4300	6503	104806828	SO:0001583	missense	1539	exon4			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.211C>T	9.37:g.105767007C>T	ENSP00000420256:p.Arg71Cys		104806828	NM_001340	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369443	0.42003	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15256	2.44;2.44	4.38	-1.06	0.10002	.	2.233800	0.01826	N	0.034386	T	0.22003	0.0530	N	0.22421	0.69	0.09310	N	1	D	0.71674	0.998	D	0.64321	0.924	T	0.11817	-1.0572	10	0.66056	D	0.02	-0.0581	0.9802	0.01434	0.1597:0.4031:0.1557:0.2815	.	71	Q14093	CYLC2_HUMAN	C	71	ENSP00000420256:R71C;ENSP00000417674:R71C	ENSP00000420256:R71C	R	+	1	0	CYLC2	104806828	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.315000	0.08081	-0.301000	0.08882	0.591000	0.81541	CGT		0.363	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
OR13D1	286365	broad.mit.edu	37	9	107457282	107457282	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:107457282C>A	ENST00000318763.5	+	1	623	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L194M(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GCAAACAGTTCTGACAATGAT	0.428																																					p.L194M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C580A	9						.						168.0	151.0	157.0					9																	107457282		2203	4300	6503	106497103	SO:0001583	missense	286365	exon1				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.580C>A	9.37:g.107457282C>A	ENSP00000317357:p.Leu194Met		106497103	NM_001004484	B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	7.797	0.712745	0.15306	.	.	ENSG00000179055	ENST00000318763	T	0.00164	8.64	3.87	-3.92	0.04155	GPCR, rhodopsin-like superfamily (1);	0.499437	0.16564	N	0.208931	T	0.00178	0.0005	M	0.64997	1.995	0.09310	N	1	P	0.48407	0.91	P	0.50162	0.633	T	0.49523	-0.8931	10	0.72032	D	0.01	.	0.4704	0.00531	0.3853:0.2047:0.1272:0.2828	.	194	Q8NGV5	O13D1_HUMAN	M	194	ENSP00000317357:L194M	ENSP00000317357:L194M	L	+	1	2	OR13D1	106497103	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-2.414000	0.01037	-0.783000	0.04534	0.511000	0.50034	CTG		0.428	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1		
ABCA1	19	broad.mit.edu	37	9	107588035	107588035	+	Missense_Mutation	SNP	G	G	A	rs551884479		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:107588035G>A	ENST00000374736.3	-	17	2865	c.2471C>T	c.(2470-2472)tCg>tTg	p.S824L	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	824					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.S824L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CATGGAGACCGAAGTGGTGAG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20323	0.0		0.001	False		,,,				2504	0.0				p.S824L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2471T	9						.						179.0	154.0	162.0					9																	107588035		2203	4300	6503	106627856	SO:0001583	missense	19	exon17			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2471C>T	9.37:g.107588035G>A	ENSP00000363868:p.Ser824Leu		106627856	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747455	0.89663	.	.	ENSG00000165029	ENST00000374736	D	0.90620	-2.7	5.39	5.39	0.77823	.	0.119721	0.64402	D	0.000016	D	0.91821	0.7412	L	0.46157	1.445	0.80722	D	1	P	0.51933	0.949	P	0.54889	0.763	D	0.89259	0.3596	10	0.23891	T	0.37	.	19.5095	0.95135	0.0:0.0:1.0:0.0	.	824	O95477	ABCA1_HUMAN	L	824	ENSP00000363868:S824L	ENSP00000363868:S824L	S	-	2	0	ABCA1	106627856	1.000000	0.71417	0.071000	0.20095	0.473000	0.32948	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	TCG		0.498	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	
ABCA1	19	broad.mit.edu	37	9	107588167	107588167	+	Splice_Site	SNP	C	C	T	rs143626002		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:107588167C>T	ENST00000374736.3	-	17	2733	c.2339G>A	c.(2338-2340)aGc>aAc	p.S780N	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	780					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.S780N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGACAGCAGGCTCTGTGAGAA	0.448																																					p.S780N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2339A	9						.	C	ASN/SER	1,4405	2.1+/-5.4	0,1,2202	76.0	69.0	71.0		2339	5.5	1.0	9	dbSNP_134	71	0,8600		0,0,4300	no	missense-near-splice	ABCA1	NM_005502.3	46	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	780/2262	107588167	1,13005	2203	4300	6503	106627988	SO:0001630	splice_region_variant	19	exon17			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2338-1G>A	9.37:g.107588167C>T			106627988	NM_005502	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237838	0.95240	2.27E-4	0.0	ENSG00000165029	ENST00000374736	D	0.83837	-1.77	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94820	0.7986	10	0.87932	D	0	.	19.7255	0.96162	0.0:1.0:0.0:0.0	.	780	O95477	ABCA1_HUMAN	N	780	ENSP00000363868:S780N	ENSP00000363868:S780N	S	-	2	0	ABCA1	106627988	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.075000	0.71261	2.726000	0.93360	0.655000	0.94253	AGC		0.448	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502	Missense_Mutation
TMEM38B	55151	broad.mit.edu	37	9	108536350	108536350	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:108536350A>C	ENST00000374692.3	+	6	982	c.865A>C	c.(865-867)Aag>Cag	p.K289Q	TMEM38B_ENST00000374688.1_Missense_Mutation_p.K235Q	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	289						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.K289Q(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						ACATACTAAGAAGAATGAATA	0.348																																					p.K289Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A865C	9						.						45.0	46.0	45.0					9																	108536350		2203	4299	6502	107576171	SO:0001583	missense	55151	exon6			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.865A>C	9.37:g.108536350A>C	ENSP00000363824:p.Lys289Gln		107576171	NM_018112	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	CCDS6768.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794630	0.70452	.	.	ENSG00000095209	ENST00000374692;ENST00000374688	T;T	0.56941	0.43;0.44	5.01	5.01	0.66863	.	0.334299	0.32901	N	0.005519	T	0.60222	0.2252	L	0.32530	0.975	0.28822	N	0.897632	D	0.71674	0.998	D	0.78314	0.991	T	0.57688	-0.7768	10	0.87932	D	0	-4.4636	11.2747	0.49159	1.0:0.0:0.0:0.0	.	289	Q9NVV0	TM38B_HUMAN	Q	289;235	ENSP00000363824:K289Q;ENSP00000363820:K235Q	ENSP00000363820:K235Q	K	+	1	0	TMEM38B	107576171	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.225000	0.58600	2.217000	0.71921	0.477000	0.44152	AAG		0.348	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1	NM_018112	
EPB41L4B	54566	broad.mit.edu	37	9	111936842	111936842	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:111936842C>T	ENST00000374566.3	-	26	3212	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	899				E -> R (in Ref. 1; AAG43366). {ECO:0000305}.	actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.E899K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTCACAGTTCGGTCATCAAC	0.458																																					p.E899K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2695A	9						.						147.0	154.0	152.0					9																	111936842		1977	4160	6137	110976663	SO:0001583	missense	54566	exon26			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2695G>A	9.37:g.111936842C>T	ENSP00000363694:p.Glu899Lys		110976663	NM_019114	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	CCDS43859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.2|24.2	4.508304|4.508304	0.85282|0.85282	.|.	.|.	ENSG00000095203|ENSG00000095203	ENST00000374566|ENST00000262536	D|.	0.89415|.	-2.51|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.31392	.|N	.|0.007735	T|T	0.61961|0.61961	0.2389|0.2389	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.73708|.	0.981|.	T|T	0.53711|0.53711	-0.8400|-0.8400	9|7	0.87932|0.07325	D|T	0|0.83	.|.	19.7405|19.7405	0.96228|0.96228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	899|.	Q9H329|.	E41LB_HUMAN|.	K|Q	899|583	ENSP00000363694:E899K|.	ENSP00000363694:E899K|ENSP00000262536:R583Q	E|R	-|-	1|2	0|0	EPB41L4B|EPB41L4B	110976663|110976663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.677000|5.677000	0.68142|0.68142	2.655000|2.655000	0.90218|0.90218	0.655000|0.655000	0.94253|0.94253	GAA|CGA		0.458	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
EPB41L4B	54566	broad.mit.edu	37	9	112018739	112018739	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:112018739C>T	ENST00000374566.3	-	8	1291	c.774G>A	c.(772-774)gcG>gcA	p.A258A	EPB41L4B_ENST00000374557.4_Silent_p.A258A	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	258	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.A258A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGAGAGTTCCGCCTGGGCAG	0.468																																					p.A258A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G774A	9						.						118.0	112.0	114.0					9																	112018739		1889	4118	6007	111058560	SO:0001819	synonymous_variant	54566	exon8			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.774G>A	9.37:g.112018739C>T			111058560	NM_018424	Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	ENST00000374566.3	37	CCDS43859.1																																																																																				0.468	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424	
PTPN3	5774	broad.mit.edu	37	9	112189332	112189332	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:112189332G>A	ENST00000374541.2	-	12	1003	c.899C>T	c.(898-900)tCc>tTc	p.S300F	PTPN3_ENST00000262539.3_Missense_Mutation_p.S191F|PTPN3_ENST00000412145.1_Missense_Mutation_p.S169F|PTPN3_ENST00000446349.1_Missense_Mutation_p.S169F	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	300	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.S300F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CTCAACACAGGATTTCCACAA	0.448																																					p.S300F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C899T	9						.						155.0	139.0	144.0					9																	112189332		2203	4300	6503	111229153	SO:0001583	missense	5774	exon12				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.899C>T	9.37:g.112189332G>A	ENSP00000363667:p.Ser300Phe		111229153	NM_002829	A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297266	0.95574	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.76	5.76	0.90799	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.76170	2.325	0.80722	D	1	D;P;D	0.89917	1.0;0.87;0.998	D;P;D	0.97110	1.0;0.745;0.991	D	0.91546	0.5253	10	0.72032	D	0.01	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	191;300;300	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	F	300;169;169;300;191	ENSP00000416654:S169F;ENSP00000395384:S169F;ENSP00000363667:S300F;ENSP00000262539:S191F	ENSP00000262539:S191F	S	-	2	0	PTPN3	111229153	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.195000	0.94971	2.713000	0.92767	0.655000	0.94253	TCC		0.448	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
SVEP1	79987	broad.mit.edu	37	9	113169334	113169334	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:113169334T>C	ENST00000401783.2	-	38	8882	c.8546A>G	c.(8545-8547)tAc>tGc	p.Y2849C	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y2826C|SVEP1_ENST00000297826.5_Missense_Mutation_p.Y775C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2849	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.Y2852C(1)		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						TTGGAATGTGTACTCGTCTCC	0.507																																					p.Y2849C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A8546G	9						.						79.0	82.0	81.0					9																	113169334		2044	4187	6231	112209155	SO:0001583	missense	79987	exon38			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.8546A>G	9.37:g.113169334T>C	ENSP00000384917:p.Tyr2849Cys		112209155	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376515	0.42105	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.69926	-0.44;-0.44;-0.44	5.58	4.41	0.53225	Complement control module (2);Sushi/SCR/CCP (3);	0.057496	0.64402	D	0.000001	D	0.83760	0.5324	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.85766	0.1352	10	0.56958	D	0.05	.	12.1026	0.53794	0.1289:0.0:0.0:0.8711	.	2849	Q4LDE5	SVEP1_HUMAN	C	2849;2826;775	ENSP00000384917:Y2849C;ENSP00000363593:Y2826C;ENSP00000297826:Y775C	ENSP00000297826:Y775C	Y	-	2	0	SVEP1	112209155	1.000000	0.71417	0.969000	0.41365	0.951000	0.60555	2.647000	0.46639	1.005000	0.39183	0.482000	0.46254	TAC		0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
SVEP1	79987	broad.mit.edu	37	9	113192656	113192656	+	Missense_Mutation	SNP	C	C	T	rs558851867		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:113192656C>T	ENST00000401783.2	-	33	5764	c.5428G>A	c.(5428-5430)Gaa>Aaa	p.E1810K	SVEP1_ENST00000374469.1_Missense_Mutation_p.E1787K|SVEP1_ENST00000297826.5_5'Flank	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1810	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.		E -> A (in dbSNP:rs2986671).		cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.E1813K(1)		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						AATGTGACTTCGGCACCTACT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		17765	0.0		0.0	False		,,,				2504	0.001				p.E1810K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5428A	9						.						67.0	61.0	63.0					9																	113192656		1878	4117	5995	112232477	SO:0001583	missense	79987	exon33			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.5428G>A	9.37:g.113192656C>T	ENSP00000384917:p.Glu1810Lys		112232477	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	3.826	-0.036675	0.07497	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.62364	0.03;0.03	5.27	1.22	0.21188	Complement control module (2);Sushi/SCR/CCP (3);	0.403453	0.29021	N	0.013385	T	0.38134	0.1029	N	0.20574	0.59	0.23192	N	0.998147	B	0.17268	0.021	B	0.15052	0.012	T	0.24048	-1.0171	10	0.06236	T	0.91	.	9.5838	0.39504	0.0:0.4124:0.4496:0.138	.	1810	Q4LDE5	SVEP1_HUMAN	K	1810;1787	ENSP00000384917:E1810K;ENSP00000363593:E1787K	ENSP00000363593:E1787K	E	-	1	0	SVEP1	112232477	0.018000	0.18449	0.004000	0.12327	0.795000	0.44927	0.003000	0.13083	0.053000	0.16036	0.655000	0.94253	GAA		0.408	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
MUSK	4593	broad.mit.edu	37	9	113530341	113530341	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:113530341C>T	ENST00000374448.4	+	9	1296	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S	MUSK_ENST00000189978.5_Missense_Mutation_p.P388S|MUSK_ENST00000416899.2_Missense_Mutation_p.P388S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	388	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P388S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGGAGTAGTGCCTACTCCTAT	0.438																																					p.P388S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1162T	9						.						71.0	72.0	71.0					9																	113530341		1888	4108	5996	112570162	SO:0001583	missense	4593	exon8			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1162C>T	9.37:g.113530341C>T	ENSP00000363571:p.Pro388Ser		112570162	NM_005592	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014121	0.54468	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000416899	T	0.79141	-1.24	5.28	4.38	0.52667	Frizzled domain (3);	0.054126	0.85682	N	0.000000	T	0.77928	0.4204	M	0.72479	2.2	0.80722	D	1	B	0.27192	0.171	B	0.34779	0.189	T	0.74760	-0.3556	10	0.33141	T	0.24	.	13.0808	0.59114	0.0:0.9225:0.0:0.0775	.	388	O15146	MUSK_HUMAN	S	394;388;388;394	ENSP00000363571:P388S	ENSP00000189978:P394S	P	+	1	0	MUSK	112570162	0.997000	0.39634	0.475000	0.27278	0.056000	0.15407	3.539000	0.53604	1.375000	0.46248	0.585000	0.79938	CCT		0.438	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
KIAA0368	23392	broad.mit.edu	37	9	114190404	114190404	+	Missense_Mutation	SNP	A	A	G	rs201478326		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:114190404A>G	ENST00000338205.5	-	9	1187	c.968T>C	c.(967-969)gTc>gCc	p.V323A	KIAA0368_ENST00000259335.4_Missense_Mutation_p.V501A			Q5VYK3	ECM29_HUMAN	KIAA0368	329					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.V501A(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCTTGTACTGACAGGGTCCCT	0.403																																					p.V501A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1502C	9						.						73.0	72.0	72.0					9																	114190404		1872	4096	5968	113230225	SO:0001583	missense	23392	exon11			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.968T>C	9.37:g.114190404A>G	ENSP00000339889:p.Val323Ala		113230225	NM_001080398	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	A	9.078	0.998642	0.19121	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.36878	1.23	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	N	0.03983	-0.305	0.80722	D	1	P	0.37061	0.58	B	0.38921	0.285	T	0.14559	-1.0468	10	0.02654	T	1	.	16.0152	0.80434	1.0:0.0:0.0:0.0	.	329	Q5VYK3	ECM29_HUMAN	A	323;501	ENSP00000259335:V501A	ENSP00000259335:V501A	V	-	2	0	KIAA0368	113230225	1.000000	0.71417	0.995000	0.50966	0.879000	0.50718	8.608000	0.90895	2.180000	0.69256	0.533000	0.62120	GTC		0.403	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
SNX30	401548	broad.mit.edu	37	9	115580024	115580024	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:115580024C>T	ENST00000374232.3	+	3	552	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	130	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ATATTCTGTTCGTCGAAGATA	0.443																																					p.R130C												.	.	0			c.C388T	9						.						124.0	113.0	117.0					9																	115580024		1847	4096	5943	114619845	SO:0001583	missense	401548	exon3			AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.388C>T	9.37:g.115580024C>T	ENSP00000363349:p.Arg130Cys		114619845	NM_001012994		Missense_Mutation	SNP	ENST00000374232.3	37	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418298	0.83449	.	.	ENSG00000148158	ENST00000374232	T	0.41065	1.01	5.55	5.55	0.83447	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77943	-0.2398	10	0.56958	D	0.05	.	19.4525	0.94873	0.0:1.0:0.0:0.0	.	130	Q5VWJ9	SNX30_HUMAN	C	130	ENSP00000363349:R130C	ENSP00000363349:R130C	R	+	1	0	SNX30	114619845	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	3.850000	0.55918	2.767000	0.95098	0.563000	0.77884	CGT		0.443	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1		
SLC46A2	57864	broad.mit.edu	37	9	115651841	115651842	+	Missense_Mutation	DNP	AA	AA	GG			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	AA	AA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:115651841_115651842AA>GG	ENST00000374228.4	-	1	1351_1352	c.1120_1121TT>CC	c.(1120-1122)TTc>CCc	p.F374P		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	374					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.F374>?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						ACCAATATAGAACATGTATGTC	0.525																																					.												.	.	1	Complex(1)	large_intestine(1)	c.1120_1121CC	9						.																																			114691663	SO:0001583	missense	57864	exon1			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.1120_1121delinsGG	9.37:g.115651841_115651842delinsGG	ENSP00000363345:p.Phe374Pro		114691662	NM_033051	B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	DNP	ENST00000374228.4	37	CCDS6786.1																																																																																				0.525	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051	
ZNF883	169834	broad.mit.edu	37	9	115760358	115760358	+	lincRNA	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:115760358C>A	ENST00000427548.1	-	0	1455							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTATGTATTCTTTGATGTTG	0.373																																					p.R61I												.	.	0			c.G182T	9						.						60.0	66.0	64.0					9																	115760358		2187	4290	6477	114800179			169834	exon5			AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760358C>A			114800179	NM_001101338		Missense_Mutation	SNP	ENST00000427548.1	37																																																																																					0.373	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338	
FKBP15	23307	broad.mit.edu	37	9	115946582	115946582	+	Missense_Mutation	SNP	C	C	T	rs532818858		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:115946582C>T	ENST00000238256.3	-	17	1823	c.1706G>A	c.(1705-1707)cGa>cAa	p.R569Q		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	569					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.R569Q(1)|p.R594Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTGAATGATTCGCTGGATGTT	0.438																																					p.R569Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1706A	9						.						90.0	83.0	85.0					9																	115946582		1978	4161	6139	114986403	SO:0001583	missense	23307	exon17			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1706G>A	9.37:g.115946582C>T	ENSP00000238256:p.Arg569Gln		114986403	NM_015258	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	.	35	5.507364	0.96386	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.42900	0.96;0.97	5.9	5.9	0.94986	.	.	.	.	.	T	0.66548	0.2800	M	0.73962	2.25	0.41067	D	0.985423	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.68372	-0.5426	9	0.72032	D	0.01	-9.8849	17.7661	0.88478	0.0:1.0:0.0:0.0	.	150;569;569	B4DVS2;Q5T1M5-2;Q5T1M5	.;.;FKB15_HUMAN	Q	594;569	ENSP00000416158:R594Q;ENSP00000238256:R569Q	ENSP00000238256:R569Q	R	-	2	0	FKBP15	114986403	0.978000	0.34361	0.997000	0.53966	0.957000	0.61999	6.630000	0.74272	2.793000	0.96121	0.563000	0.77884	CGA		0.438	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258	
PRPF4	9128	broad.mit.edu	37	9	116049104	116049104	+	Missense_Mutation	SNP	G	G	A	rs201603947	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:116049104G>A	ENST00000374198.4	+	9	1033	c.931G>A	c.(931-933)Gac>Aac	p.D311N	PRPF4_ENST00000374199.4_Missense_Mutation_p.D310N	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	311					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)		p.D311N(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TTGGAGTCTCGACAGGTGAAT	0.478													G|||	10	0.00199681	0.0	0.0	5008	,	,		18127	0.0099		0.0	False		,,,				2504	0.0				p.D311N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G931A	9						.						306.0	307.0	307.0					9																	116049104		2203	4300	6503	115088925	SO:0001583	missense	9128	exon9			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.931G>A	9.37:g.116049104G>A	ENSP00000363313:p.Asp311Asn		115088925	NM_004697	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	CCDS6791.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	18.40	3.614969	0.66672	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.80738	-1.41;-1.41	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.243530	0.48767	D	0.000172	T	0.65207	0.2669	N	0.26130	0.795	0.80722	D	1	B;B	0.16396	0.017;0.012	B;B	0.06405	0.002;0.002	T	0.62859	-0.6765	10	0.22109	T	0.4	.	19.0872	0.93209	0.0:0.0:1.0:0.0	.	326;311	Q59EL4;O43172	.;PRP4_HUMAN	N	310;311	ENSP00000363315:D310N;ENSP00000363313:D311N	ENSP00000363313:D311N	D	+	1	0	PRPF4	115088925	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.401000	0.79962	2.752000	0.94435	0.655000	0.94253	GAC		0.478	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	
AMBP	259	broad.mit.edu	37	9	116823712	116823712	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:116823712C>T	ENST00000265132.3	-	8	1107	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	282					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCACAGTTCGGCAGGTCTG	0.547																																					p.R282Q												.	.	0			c.G845A	9						.						74.0	70.0	71.0					9																	116823712		2203	4300	6503	115863533	SO:0001583	missense	259	exon8			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.845G>A	9.37:g.116823712C>T	ENSP00000265132:p.Arg282Gln		115863533	NM_001633	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395005	0.83011	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.58506	0.33	5.4	5.4	0.78164	Proteinase inhibitor I2, Kunitz metazoa (4);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	M	0.69463	2.115	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.76820	-0.2818	10	0.66056	D	0.02	.	16.668	0.85258	0.0:1.0:0.0:0.0	.	223;282	B7Z8R6;P02760	.;AMBP_HUMAN	Q	282;223	ENSP00000265132:R282Q	ENSP00000265132:R282Q	R	-	2	0	AMBP	115863533	1.000000	0.71417	0.932000	0.37286	0.267000	0.26476	6.837000	0.75354	2.500000	0.84329	0.655000	0.94253	CGA		0.547	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633	
COL27A1	85301	broad.mit.edu	37	9	116956736	116956736	+	Splice_Site	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:116956736A>C	ENST00000356083.3	+	6	2460	c.2069A>C	c.(2068-2070)aAg>aCg	p.K690T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	690	Collagen-like 2.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.K690T(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GATGGGGCAAAGGTAGGTTTC	0.522																																					p.K690T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2069C	9						.						125.0	132.0	130.0					9																	116956736		2203	4300	6503	115996557	SO:0001630	splice_region_variant	85301	exon6			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2070+1A>C	9.37:g.116956736A>C			115996557	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286716	0.59867	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93811	-3.29	5.29	5.29	0.74685	.	.	.	.	.	D	0.94305	0.8170	L	0.41079	1.255	0.53688	D	0.999974	D	0.76494	0.999	D	0.87578	0.998	D	0.93950	0.7231	9	0.48119	T	0.1	.	11.6177	0.51099	1.0:0.0:0.0:0.0	.	690	Q8IZC6	CORA1_HUMAN	T	690	ENSP00000348385:K690T	ENSP00000348385:K690T	K	+	2	0	COL27A1	115996557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.575000	0.60908	1.989000	0.58080	0.533000	0.62120	AAG		0.522	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Missense_Mutation
COL27A1	85301	broad.mit.edu	37	9	117008167	117008167	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:117008167C>T	ENST00000356083.3	+	24	3347	c.2956C>T	c.(2956-2958)Cgg>Tgg	p.R986W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	986	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.R986W(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGATCCTGGTCGGCCGGGGCC	0.577																																					p.R986W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2956T	9						.						106.0	115.0	112.0					9																	117008167		2203	4300	6503	116047988	SO:0001583	missense	85301	exon24			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2956C>T	9.37:g.117008167C>T	ENSP00000348385:p.Arg986Trp		116047988	NM_032888	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058809	0.36277	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93604	-3.25	5.18	5.18	0.71444	.	.	.	.	.	D	0.96488	0.8854	M	0.81614	2.55	0.45439	D	0.998415	D	0.89917	1.0	D	0.91635	0.999	D	0.96642	0.9475	9	0.66056	D	0.02	.	14.5463	0.68032	0.0:1.0:0.0:0.0	.	986	Q8IZC6	CORA1_HUMAN	W	986	ENSP00000348385:R986W	ENSP00000348385:R986W	R	+	1	2	COL27A1	116047988	0.997000	0.39634	0.997000	0.53966	0.024000	0.10985	2.667000	0.46808	2.573000	0.86826	0.462000	0.41574	CGG		0.577	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	
ORM1	5004	broad.mit.edu	37	9	117086077	117086077	+	Silent	SNP	C	C	T	rs150277766		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:117086077C>T	ENST00000259396.8	+	2	327	c.249C>T	c.(247-249)taC>taT	p.Y83Y	ORM1_ENST00000538816.1_3'UTR|ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	83					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Y83Y(1)		endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	TCAGAGAGTACCAGACCCGGT	0.527																																					p.Y83Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249T	9						.						78.0	80.0	79.0					9																	117086077		2203	4298	6501	116125898	SO:0001819	synonymous_variant	5004	exon2				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.249C>T	9.37:g.117086077C>T			116125898	NM_000607	B7ZKQ5|Q5T539|Q5U067|Q8TC16	Silent	SNP	ENST00000259396.8	37	CCDS6803.1																																																																																				0.527	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1		
ORM1	5004	broad.mit.edu	37	9	117087089	117087089	+	Silent	SNP	C	C	T	rs141250386		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:117087089C>T	ENST00000259396.8	+	4	426	c.348C>T	c.(346-348)ttC>ttT	p.F116F	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	116					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.F116F(1)		endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Abiraterone(DB05812)|Acenocoumarol(DB01418)|Ajmaline(DB01426)|Alfentanil(DB00802)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aprindine(DB01429)|Bupropion(DB01156)|Canagliflozin(DB08907)|Celecoxib(DB00482)|Chlorpromazine(DB00477)|Desipramine(DB01151)|Disopyramide(DB00280)|Doxazosin(DB00590)|Doxepin(DB01142)|Erlotinib(DB00530)|Fluoxetine(DB00472)|Gefitinib(DB00317)|Imatinib(DB00619)|Imipramine(DB00458)|Ivacaftor(DB08820)|Maprotiline(DB00934)|Mirabegron(DB08893)|Nateglinide(DB00731)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxycodone(DB00497)|Penbutolol(DB01359)|Pethidine(DB00454)|Phenprocoumon(DB00946)|Pitavastatin(DB08860)|Prazosin(DB00457)|Propranolol(DB00571)|Quinidine(DB00908)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Tamsulosin(DB00706)|Telaprevir(DB05521)|Thalidomide(DB01041)|Trazodone(DB00656)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Vismodegib(DB08828)|Warfarin(DB00682)	AAGAGCATTTCGCTCACTTGC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24673	0.0		0.0	False		,,,				2504	0.0				p.F116F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C348T	9						.	C		0,4406		0,0,2203	131.0	131.0	131.0		348	-6.9	0.0	9	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ORM1	NM_000607.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		116/202	117087089	1,13005	2203	4300	6503	116126910	SO:0001819	synonymous_variant	5004	exon4				CCDS6803.1	9q32	2013-09-19			ENSG00000229314	ENSG00000229314		"""Lipocalins"""	8498	protein-coding gene	gene with protein product		138600					Standard	NM_000607		Approved		uc004bik.4	P02763	OTTHUMG00000021012	ENST00000259396.8:c.348C>T	9.37:g.117087089C>T			116126910	NM_000607	B7ZKQ5|Q5T539|Q5U067|Q8TC16	Silent	SNP	ENST00000259396.8	37	CCDS6803.1																																																																																				0.522	ORM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055426.1		
TNC	3371	broad.mit.edu	37	9	117798462	117798462	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:117798462G>A	ENST00000350763.4	-	21	5982	c.5571C>T	c.(5569-5571)ctC>ctT	p.L1857L	TNC_ENST00000345230.3_Silent_p.L1220L|TNC_ENST00000542877.1_Silent_p.L1494L|TNC_ENST00000423613.2_Silent_p.L1584L|TNC_ENST00000535648.1_Silent_p.L1402L|TNC_ENST00000537320.1_Silent_p.L1220L|TNC_ENST00000341037.4_Silent_p.L1675L|TNC_ENST00000346706.3_Silent_p.L1311L|TNC_ENST00000340094.3_Silent_p.L1493L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1857	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.L1857L(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGCAGGCTCGAGGTCGGTCA	0.502																																					p.L1857L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5571T	9						.						174.0	146.0	155.0					9																	117798462		2203	4300	6503	116838283	SO:0001819	synonymous_variant	3371	exon21				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5571C>T	9.37:g.117798462G>A			116838283	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	8.327	0.825733	0.16749	.	.	ENSG00000041982	ENST00000544972	.	.	.	5.38	-10.2	0.00374	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.619	0.62126	0.3099:0.5373:0.1528:0.0	.	.	.	.	X	420	.	.	R	-	1	2	TNC	116838283	0.010000	0.17322	0.140000	0.22221	0.917000	0.54804	-0.608000	0.05641	-1.520000	0.01773	-0.910000	0.02820	CGA		0.502	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
TNC	3371	broad.mit.edu	37	9	117849421	117849421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:117849421G>A	ENST00000350763.4	-	3	1000	c.589C>T	c.(589-591)Cga>Tga	p.R197*	TNC_ENST00000345230.3_Nonsense_Mutation_p.R197*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R197*|TNC_ENST00000423613.2_Nonsense_Mutation_p.R197*|TNC_ENST00000535648.1_Nonsense_Mutation_p.R197*|TNC_ENST00000537320.1_Nonsense_Mutation_p.R197*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R197*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R197*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R197*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	197	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.R197*(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACCGGCCTCGAAGGTGACAG	0.612																																					p.R197X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C589T	9						.						105.0	92.0	96.0					9																	117849421		2203	4300	6503	116889242	SO:0001587	stop_gained	3371	exon3				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.589C>T	9.37:g.117849421G>A	ENSP00000265131:p.Arg197*		116889242	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	36	5.796744	0.96952	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.19	1.72	0.24424	.	0.719368	0.12446	N	0.468177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6915	0.62549	0.0:0.0:0.4675:0.5325	.	.	.	.	X	197	.	ENSP00000344400:R197X	R	-	1	2	TNC	116889242	0.397000	0.25270	0.057000	0.19452	0.311000	0.27955	1.991000	0.40727	0.657000	0.30906	-0.354000	0.07668	CGA		0.612	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
PAPPA	5069	broad.mit.edu	37	9	119109374	119109374	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:119109374G>A	ENST00000328252.3	+	15	4219	c.3850G>A	c.(3850-3852)Gac>Aac	p.D1284N	PAPPA_ENST00000534838.1_Missense_Mutation_p.D322N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1284	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGAGCCAGTCGACTGCAGCAT	0.572																																					p.D1284N												.	.	0			c.G3850A	9						.						160.0	115.0	130.0					9																	119109374		2203	4300	6503	118149195	SO:0001583	missense	5069	exon15				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3850G>A	9.37:g.119109374G>A	ENSP00000330658:p.Asp1284Asn		118149195	NM_002581	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	36	5.600959	0.96614	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.76448	-1.02;-1.02	5.86	5.86	0.93980	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89154	0.3525	10	0.52906	T	0.07	-31.4323	20.1865	0.98220	0.0:0.0:1.0:0.0	.	322;1284	F5GZ19;Q13219	.;PAPP1_HUMAN	N	1284;322	ENSP00000330658:D1284N;ENSP00000441461:D322N	ENSP00000330658:D1284N	D	+	1	0	PAPPA	118149195	1.000000	0.71417	0.996000	0.52242	0.723000	0.41478	9.827000	0.99397	2.775000	0.95449	0.655000	0.94253	GAC		0.572	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
ASTN2	23245	broad.mit.edu	37	9	119567973	119567973	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:119567973T>C	ENST00000313400.4	-	13	2434	c.2334A>G	c.(2332-2334)ctA>ctG	p.L778L	ASTN2_ENST00000361209.2_Silent_p.L727L|ASTN2_ENST00000373996.3_Silent_p.L774L|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	778					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.L727L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGTAACCATGTAGCATCTCTC	0.473																																					p.L727L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2181G	9						.						216.0	197.0	203.0					9																	119567973		2203	4300	6503	118607794	SO:0001819	synonymous_variant	23245	exon12			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2334A>G	9.37:g.119567973T>C			118607794	NM_014010	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																					0.473	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
CDK5RAP2	55755	broad.mit.edu	37	9	123177407	123177407	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:123177407C>T	ENST00000349780.4	-	28	4387	c.4208G>A	c.(4207-4209)cGa>cAa	p.R1403Q	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1362Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1371Q|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1403Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1403					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.R1403Q(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTCAAAGTTCGAATTTCCTG	0.348																																					p.R1403Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4208A	9						.						130.0	120.0	123.0					9																	123177407		2203	4300	6503	122217228	SO:0001583	missense	55755	exon28			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4208G>A	9.37:g.123177407C>T	ENSP00000343818:p.Arg1403Gln		122217228	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045848	0.93685	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	5.97	5.97	0.96955	.	0.000000	0.43747	D	0.000528	T	0.60287	0.2257	M	0.64997	1.995	0.42278	D	0.99208	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.998;0.998;0.997	T	0.60326	-0.7285	10	0.87932	D	0	.	18.6193	0.91316	0.0:1.0:0.0:0.0	.	413;1172;1371;1403;1403;797	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	Q	1371;1362;1403;1403;797;413;1175	ENSP00000354065:R1371Q;ENSP00000352258:R1362Q;ENSP00000343818:R1403Q;ENSP00000353317:R1403Q;ENSP00000400395:R797Q;ENSP00000409941:R413Q	ENSP00000341695:R1175Q	R	-	2	0	CDK5RAP2	122217228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.941000	0.70195	2.836000	0.97738	0.655000	0.94253	CGA		0.348	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
CDK5RAP2	55755	broad.mit.edu	37	9	123182103	123182103	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:123182103T>G	ENST00000349780.4	-	27	4319	c.4140A>C	c.(4138-4140)acA>acC	p.T1380T	CDK5RAP2_ENST00000359309.3_Silent_p.T1339T|CDK5RAP2_ENST00000360822.3_Silent_p.T1348T|CDK5RAP2_ENST00000360190.4_Silent_p.T1380T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1380					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.T1380T(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAGTCTTCTCTGTCTCATTAT	0.398																																					p.T1380T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A4140C	9						.						233.0	209.0	217.0					9																	123182103		2203	4300	6503	122221924	SO:0001819	synonymous_variant	55755	exon27			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4140A>C	9.37:g.123182103T>G			122221924	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	CCDS6823.1																																																																																				0.398	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
C5	727	broad.mit.edu	37	9	123715045	123715045	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:123715045G>A	ENST00000223642.1	-	41	5032	c.5003C>T	c.(5002-5004)gCc>gTc	p.A1668V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1668	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.A1668V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GATATCTTCGGCAAATTCATC	0.363																																					p.A1668V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5003T	9						.						79.0	78.0	78.0					9																	123715045		2203	4300	6503	122754866	SO:0001583	missense	727	exon41			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.5003C>T	9.37:g.123715045G>A	ENSP00000223642:p.Ala1668Val		122754866	NM_001735	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587611	0.46110	.	.	ENSG00000106804	ENST00000223642	T	0.57107	0.42	5.56	5.56	0.83823	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.752409	0.13100	N	0.413881	T	0.37293	0.0998	N	0.20986	0.625	0.35639	D	0.810869	B	0.15473	0.013	B	0.13407	0.009	T	0.20240	-1.0281	10	0.02654	T	1	.	15.4064	0.74881	0.0:0.0:1.0:0.0	.	1668	P01031	CO5_HUMAN	V	1668	ENSP00000223642:A1668V	ENSP00000223642:A1668V	A	-	2	0	C5	122754866	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	1.523000	0.35932	2.790000	0.95986	0.655000	0.94253	GCC		0.363	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
C5	727	broad.mit.edu	37	9	123725021	123725021	+	Missense_Mutation	SNP	G	G	A	rs138933092		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:123725021G>A	ENST00000223642.1	-	36	4461	c.4432C>T	c.(4432-4434)Cgg>Tgg	p.R1478W		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1478					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.R1478W(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCAAATATCCGGAATCGTACA	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0				p.R1478W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4432T	9						.	G	TRP/ARG	0,4406		0,0,2203	112.0	116.0	115.0		4432	5.6	1.0	9	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	C5	NM_001735.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1478/1677	123725021	1,13005	2203	4300	6503	122764842	SO:0001583	missense	727	exon36			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4432C>T	9.37:g.123725021G>A	ENSP00000223642:p.Arg1478Trp		122764842	NM_001735	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.3	4.125546	0.77436	0.0	1.16E-4	ENSG00000106804	ENST00000223642	T	0.25414	1.8	5.62	5.62	0.85841	Alpha-macroglobulin, receptor-binding (3);	0.115747	0.64402	D	0.000015	T	0.57989	0.2091	M	0.88105	2.93	0.46678	D	0.999154	D	0.76494	0.999	D	0.68765	0.96	T	0.65282	-0.6206	10	0.72032	D	0.01	.	17.1516	0.86779	0.0:0.0:1.0:0.0	.	1478	P01031	CO5_HUMAN	W	1478	ENSP00000223642:R1478W	ENSP00000223642:R1478W	R	-	1	2	C5	122764842	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.654000	0.61469	2.640000	0.89533	0.655000	0.94253	CGG		0.373	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
C5	727	broad.mit.edu	37	9	123783860	123783860	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:123783860A>G	ENST00000223642.1	-	11	1258	c.1229T>C	c.(1228-1230)gTa>gCa	p.V410A		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	410					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.V410A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AACACGTGTTACACTTTTGCT	0.433																																					p.V410A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1229C	9						.						198.0	168.0	178.0					9																	123783860		2203	4300	6503	122823681	SO:0001583	missense	727	exon11			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1229T>C	9.37:g.123783860A>G	ENSP00000223642:p.Val410Ala		122823681	NM_001735	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	A	3.484	-0.105284	0.06967	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.32753	1.44	5.97	0.533	0.17121	.	1.163150	0.06323	N	0.704850	T	0.25680	0.0625	M	0.62723	1.935	0.09310	N	1	B;B	0.23591	0.088;0.039	B;B	0.25140	0.058;0.016	T	0.32241	-0.9914	10	0.07482	T	0.82	.	3.6352	0.08146	0.4751:0.0:0.2464:0.2785	.	481;410	Q59GS8;P01031	.;CO5_HUMAN	A	410;481	ENSP00000223642:V410A	ENSP00000223642:V410A	V	-	2	0	C5	122823681	0.044000	0.20184	0.000000	0.03702	0.228000	0.25075	0.709000	0.25734	0.153000	0.19213	0.533000	0.62120	GTA		0.433	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
C5	727	broad.mit.edu	37	9	123800211	123800211	+	Missense_Mutation	SNP	G	G	A	rs544818019		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:123800211G>A	ENST00000223642.1	-	4	469	c.440C>T	c.(439-441)tCg>tTg	p.S147L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	147					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.S147L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GTCATTCAACGAATAAACTCT	0.259													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15279	0.0		0.0	False		,,,				2504	0.0				p.S147L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C440T	9						.						22.0	24.0	23.0					9																	123800211		2196	4272	6468	122840032	SO:0001583	missense	727	exon4			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.440C>T	9.37:g.123800211G>A	ENSP00000223642:p.Ser147Leu		122840032	NM_001735	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001419	0.74818	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.74632	-0.86	5.74	3.8	0.43715	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.85710	2.77	0.46927	D	0.999256	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88810	0.3291	10	0.72032	D	0.01	.	13.8415	0.63441	0.0:0.0:0.7228:0.2772	.	218;147	Q59GS8;P01031	.;CO5_HUMAN	L	147;218	ENSP00000223642:S147L	ENSP00000223642:S147L	S	-	2	0	C5	122840032	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	4.746000	0.62133	1.389000	0.46526	0.650000	0.86243	TCG		0.259	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
CNTRL	11064	broad.mit.edu	37	9	123914934	123914934	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:123914934G>T	ENST00000373855.1	+	26	4395	c.4135G>T	c.(4135-4137)Gaa>Taa	p.E1379*	CNTRL_ENST00000373847.1_Nonsense_Mutation_p.E827*|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.E827*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.E1379*			Q7Z7A1	CNTRL_HUMAN	centriolin	1379					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.E1379*(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TGAAGTAGAAGAATTACATAG	0.338																																					p.E1379X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G4135T	9						.						83.0	87.0	85.0					9																	123914934		2203	4300	6503	122954755	SO:0001587	stop_gained	11064	exon24			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4135G>T	9.37:g.123914934G>T	ENSP00000362962:p.Glu1379*		122954755	NM_007018	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Nonsense_Mutation	SNP	ENST00000373855.1	37	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	40	7.921992	0.98563	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	.	.	.	5.67	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	13.503	0.61469	0.0749:0.0:0.9251:0.0	.	.	.	.	X	1379;1379;1379;135;827;827;48;48	.	ENSP00000238341:E1379X	E	+	1	0	CNTRL	122954755	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.813000	0.62620	2.836000	0.97738	0.655000	0.94253	GAA		0.338	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018	
MRRF	92399	broad.mit.edu	37	9	125047526	125047526	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:125047526C>T	ENST00000344641.3	+	4	730	c.419C>T	c.(418-420)tCg>tTg	p.S140L	MRRF_ENST00000373723.5_Missense_Mutation_p.S140L|MRRF_ENST00000546115.1_Missense_Mutation_p.S140L|MRRF_ENST00000373730.3_Missense_Mutation_p.S140L|MRRF_ENST00000394315.3_Missense_Mutation_p.S140L|MRRF_ENST00000297908.3_Missense_Mutation_p.S88L|MRRF_ENST00000373729.1_Missense_Mutation_p.S96L|MRRF_ENST00000373724.1_3'UTR	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	140					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)		p.S140L(1)		breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TCCATGAAGTCGCCACAGCTG	0.458																																					p.S140L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C419T	9						.						90.0	94.0	92.0					9																	125047526		2203	4300	6503	124087347	SO:0001583	missense	92399	exon4			AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.419C>T	9.37:g.125047526C>T	ENSP00000343867:p.Ser140Leu		124087347	NM_138777	A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Missense_Mutation	SNP	ENST00000344641.3	37	CCDS6840.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822588	0.71028	.	.	ENSG00000148187	ENST00000297908;ENST00000373723;ENST00000373730;ENST00000546115;ENST00000344641;ENST00000441707;ENST00000373729;ENST00000373727;ENST00000373728;ENST00000373724;ENST00000394315	T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.48	4.57	0.56435	Ribosome recycling factor domain (2);Arginine repressor, C-terminal (1);	0.113238	0.64402	D	0.000008	T	0.49355	0.1552	M	0.78637	2.42	0.80722	D	1	B;B;P;B	0.36110	0.025;0.025;0.537;0.171	B;B;B;B	0.31614	0.012;0.011;0.133;0.056	T	0.58375	-0.7647	10	0.87932	D	0	-0.2192	14.9999	0.71464	0.1436:0.8564:0.0:0.0	.	88;140;140;140	Q96E11-8;Q96E11-5;Q96E11-2;Q96E11	.;.;.;RRFM_HUMAN	L	88;140;140;140;140;140;96;140;140;96;140	ENSP00000297908:S88L;ENSP00000362828:S140L;ENSP00000362835:S140L;ENSP00000445588:S140L;ENSP00000343867:S140L;ENSP00000395072:S140L;ENSP00000362834:S96L;ENSP00000362832:S140L;ENSP00000362833:S140L;ENSP00000362829:S96L;ENSP00000377850:S140L	ENSP00000297908:S88L	S	+	2	0	MRRF	124087347	1.000000	0.71417	0.953000	0.39169	0.996000	0.88848	7.132000	0.77251	1.420000	0.47138	0.650000	0.86243	TCG		0.458	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777	
OR1J1	347168	broad.mit.edu	37	9	125239294	125239294	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:125239294G>T	ENST00000259357.2	-	1	941	c.912C>A	c.(910-912)ctC>ctA	p.L304L	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L304L(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						accTACTCAAGAGTTTTCTTA	0.473																																					p.L304L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C912A	9						.						73.0	68.0	69.0					9																	125239294		2203	4300	6503	124279115	SO:0001819	synonymous_variant	347168	exon1			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.912C>A	9.37:g.125239294G>T			124279115	NM_001004451	A3KFL8|Q6IF10|Q96R88	Silent	SNP	ENST00000259357.2	37	CCDS35120.1																																																																																				0.473	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1		
OR1N2	138882	broad.mit.edu	37	9	125316437	125316437	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:125316437T>G	ENST00000373688.2	+	1	1047	c.989T>G	c.(988-990)tTa>tGa	p.L330*		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	330						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L330*(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ACATTCTTTTTATGATTAGAC	0.388																																					p.L330X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.T989G	9						.						73.0	75.0	74.0					9																	125316437		2202	4300	6502	124356258	SO:0001587	stop_gained	138882	exon1				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.989T>G	9.37:g.125316437T>G	ENSP00000362792:p.Leu330*		124356258	NM_001004457	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Nonsense_Mutation	SNP	ENST00000373688.2	37	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.043084	0.36085	.	.	ENSG00000171501	ENST00000373688	.	.	.	4.27	-1.03	0.10102	.	1.008970	0.08010	U	0.990256	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2522	0.15529	0.1412:0.3984:0.0:0.4604	.	.	.	.	X	330	.	ENSP00000362792:L330X	L	+	2	0	OR1N2	124356258	.	.	0.003000	0.11579	0.000000	0.00434	.	.	-0.080000	0.12685	-0.885000	0.02943	TTA		0.388	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2		
OR5C1	392391	broad.mit.edu	37	9	125551546	125551546	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:125551546C>T	ENST00000373680.2	+	1	397	c.335C>T	c.(334-336)gCt>gTt	p.A112V		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A112V(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GCAGGTCTGGCTGATACTGAG	0.567																																					p.A112V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C335T	9						.						138.0	123.0	128.0					9																	125551546		2203	4300	6503	124591367	SO:0001583	missense	392391	exon1			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.335C>T	9.37:g.125551546C>T	ENSP00000362784:p.Ala112Val		124591367	NM_001001923	B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	CCDS35131.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226769	0.22542	.	.	ENSG00000148215	ENST00000373680	T	0.01359	4.98	5.32	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36234	U	0.002713	T	0.01222	0.0040	N	0.25485	0.75	0.37458	D	0.915101	B	0.16603	0.018	B	0.16722	0.016	T	0.54490	-0.8286	10	0.15499	T	0.54	.	8.9447	0.35751	0.0:0.7614:0.0:0.2386	.	112	Q8NGR4	OR5C1_HUMAN	V	112	ENSP00000362784:A112V	ENSP00000362784:A112V	A	+	2	0	OR5C1	124591367	0.000000	0.05858	0.339000	0.25562	0.474000	0.32979	-0.138000	0.10374	0.837000	0.34925	-0.142000	0.14014	GCT		0.567	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1		
RABGAP1	23637	broad.mit.edu	37	9	125861826	125861826	+	Missense_Mutation	SNP	C	C	T	rs199744049		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:125861826C>T	ENST00000373647.4	+	24	3021	c.2887C>T	c.(2887-2889)Cgg>Tgg	p.R963W	RABGAP1_ENST00000373643.5_Missense_Mutation_p.R302W	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	963					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.R963W(1)|p.R891W(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGAGAAAATTCGGGTAAGACT	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		20917	0.001		0.0	False		,,,				2504	0.0				p.R963W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2887T	9						.						98.0	98.0	98.0					9																	125861826		2203	4300	6503	124901647	SO:0001583	missense	23637	exon24			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2887C>T	9.37:g.125861826C>T	ENSP00000362751:p.Arg963Trp		124901647	NM_012197	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.43	3.826886	0.71143	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.15139	3.29;2.45	5.25	3.38	0.38709	.	0.159334	0.42294	N	0.000735	T	0.30510	0.0767	L	0.58101	1.795	0.58432	D	0.999996	D	0.76494	0.999	P	0.59546	0.859	T	0.02837	-1.1104	10	0.46703	T	0.11	-8.0464	11.3521	0.49594	0.0:0.8503:0.0:0.1497	.	963	Q9Y3P9	RBGP1_HUMAN	W	963;302	ENSP00000362751:R963W;ENSP00000362747:R302W	ENSP00000362747:R302W	R	+	1	2	RABGAP1	124901647	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	1.220000	0.32491	1.454000	0.47793	0.561000	0.74099	CGG		0.353	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197	
STRBP	55342	broad.mit.edu	37	9	125895152	125895152	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:125895152C>T	ENST00000348403.5	-	17	2298	c.1869G>A	c.(1867-1869)gcG>gcA	p.A623A	STRBP_ENST00000447404.2_Silent_p.A623A|STRBP_ENST00000360998.3_Silent_p.A609A	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	623					cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A623A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GAGCAGCTGTCGCCCCAACAA	0.507																																					p.A609A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1827A	9						.						88.0	83.0	85.0					9																	125895152		2203	4300	6503	124934973	SO:0001819	synonymous_variant	55342	exon17			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1869G>A	9.37:g.125895152C>T			124934973	NM_001171137	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	ENST00000348403.5	37	CCDS6851.1																																																																																				0.507	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		
STRBP	55342	broad.mit.edu	37	9	125923329	125923329	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:125923329T>G	ENST00000348403.5	-	7	983	c.554A>C	c.(553-555)gAt>gCt	p.D185A	STRBP_ENST00000447404.2_Missense_Mutation_p.D185A|STRBP_ENST00000360998.3_Missense_Mutation_p.D171A	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	185	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.D185A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTCCGGAGGATCTTTCATCGA	0.363																																					p.D171A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A512C	9						.						38.0	37.0	38.0					9																	125923329		2203	4300	6503	124963150	SO:0001583	missense	55342	exon7			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.554A>C	9.37:g.125923329T>G	ENSP00000321347:p.Asp185Ala		124963150	NM_001171137	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477766	0.84640	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.50277	0.75;0.75;0.75	5.87	5.87	0.94306	DZF (2);	0.095600	0.64402	D	0.000001	T	0.61464	0.2349	M	0.77313	2.365	0.80722	D	1	P	0.45768	0.866	P	0.49421	0.61	T	0.66791	-0.5834	10	0.72032	D	0.01	-9.4755	16.2723	0.82628	0.0:0.0:0.0:1.0	.	185	Q96SI9	STRBP_HUMAN	A	185;185;171	ENSP00000415968:D185A;ENSP00000321347:D185A;ENSP00000354271:D171A	ENSP00000321347:D185A	D	-	2	0	STRBP	124963150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.239000	0.73571	0.533000	0.62120	GAT		0.363	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		
TYRP1	7306	broad.mit.edu	37	9	12704611	12704611	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:12704611A>G	ENST00000388918.5	+	6	1296	c.1167A>G	c.(1165-1167)ggA>ggG	p.G389G	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Silent_p.G99G|TYRP1_ENST00000381137.2_Silent_p.G98G	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	389					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G389G(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		GAACAGGGGGACAAACCCATT	0.453									Oculocutaneous Albinism																												p.G389G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A1167G	9						.						113.0	97.0	102.0					9																	12704611		2203	4300	6503	12694611	SO:0001819	synonymous_variant	7306	exon6	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1167A>G	9.37:g.12704611A>G			12694611	NM_000550	P78468|P78469|Q13721|Q15679	Silent	SNP	ENST00000388918.5	37	CCDS34990.1																																																																																				0.453	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	NM_000550	
GOLGA1	2800	broad.mit.edu	37	9	127644166	127644166	+	Missense_Mutation	SNP	G	G	A	rs556471997		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:127644166G>A	ENST00000373555.4	-	21	2366	c.2033C>T	c.(2032-2034)gCg>gTg	p.A678V		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	678					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.A678V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GACGGAAGGCGCCATGTTTGC	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19600	0.0		0.0	False		,,,				2504	0.0				p.A678V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2033T	9						.						144.0	137.0	139.0					9																	127644166		2203	4300	6503	126683987	SO:0001583	missense	2800	exon21			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.2033C>T	9.37:g.127644166G>A	ENSP00000362656:p.Ala678Val		126683987	NM_002077	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295135	0.60086	.	.	ENSG00000136935	ENST00000373555	T	0.22945	1.93	5.68	4.78	0.61160	.	0.151251	0.30374	N	0.009766	T	0.26304	0.0642	L	0.36672	1.1	0.09310	N	1	D	0.56521	0.976	P	0.46275	0.51	T	0.07829	-1.0752	10	0.51188	T	0.08	-2.7152	14.1055	0.65085	0.0728:0.0:0.9272:0.0	.	678	Q92805	GOGA1_HUMAN	V	678	ENSP00000362656:A678V	ENSP00000362656:A678V	A	-	2	0	GOLGA1	126683987	0.885000	0.30320	0.633000	0.29310	0.950000	0.60333	3.993000	0.56987	1.391000	0.46566	0.563000	0.77884	GCG		0.468	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077	
HSPA5	3309	broad.mit.edu	37	9	127999409	127999409	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:127999409T>G	ENST00000324460.6	-	8	1630	c.1427A>C	c.(1426-1428)aAt>aCt	p.N476T		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	476					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CAGAAGATGATTGTCTTTTGT	0.423										Prostate(1;0.17)																											p.N476T												.	.	0			c.A1427C	9						.						41.0	43.0	43.0					9																	127999409		2200	4299	6499	127039230	SO:0001583	missense	3309	exon8				CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1427A>C	9.37:g.127999409T>G	ENSP00000324173:p.Asn476Thr		127039230	NM_005347	B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068700	0.76301	.	.	ENSG00000044574	ENST00000324460	T	0.01369	4.97	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	H	0.99890	4.9	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.53464	-0.8435	10	0.87932	D	0	-14.4127	14.3207	0.66484	0.0:0.0:0.0:1.0	.	476	P11021	GRP78_HUMAN	T	476	ENSP00000324173:N476T	ENSP00000324173:N476T	N	-	2	0	HSPA5	127039230	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.040000	0.89188	1.982000	0.57802	0.477000	0.44152	AAT		0.423	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1		
ANGPTL2	23452	broad.mit.edu	37	9	129870821	129870821	+	Missense_Mutation	SNP	G	G	A	rs191786568		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:129870821G>A	ENST00000373425.3	-	2	807	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000491991.1_5'Flank	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	64					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.R64W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CCCGTGACCCGCTGCTGGGGC	0.572													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18732	0.0		0.0	False		,,,				2504	0.0				p.R64W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C190T	9						.						72.0	58.0	63.0					9																	129870821		2203	4300	6503	128910642	SO:0001583	missense	23452	exon2			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.190C>T	9.37:g.129870821G>A	ENSP00000362524:p.Arg64Trp		128910642	NM_012098	Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	CCDS6868.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	23.1	4.380205	0.82682	.	.	ENSG00000136859	ENST00000373425	T	0.56611	0.45	4.78	3.79	0.43588	.	0.230823	0.43579	D	0.000552	T	0.55513	0.1925	L	0.40543	1.245	0.80722	D	1	D	0.61697	0.99	P	0.57502	0.822	T	0.58885	-0.7557	10	0.87932	D	0	.	9.9865	0.41846	0.0:0.0:0.5234:0.4766	.	64	Q9UKU9	ANGL2_HUMAN	W	64	ENSP00000362524:R64W	ENSP00000362524:R64W	R	-	1	2	ANGPTL2	128910642	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.180000	0.65048	2.211000	0.71520	0.591000	0.81541	CGG		0.572	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098	
GARNL3	84253	broad.mit.edu	37	9	130098493	130098493	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:130098493C>T	ENST00000373387.4	+	11	1312	c.960C>T	c.(958-960)tcC>tcT	p.S320S	GARNL3_ENST00000435213.2_Silent_p.S298S|GARNL3_ENST00000314904.5_Silent_p.S320S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	320	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.S302S(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTAAGCCTTCCATGATCCGCT	0.488																																					p.S320S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C960T	9						.						137.0	111.0	120.0					9																	130098493		2203	4300	6503	129138314	SO:0001819	synonymous_variant	84253	exon11			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.960C>T	9.37:g.130098493C>T			129138314	NM_032293	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	CCDS6869.2																																																																																				0.488	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	
LRSAM1	90678	broad.mit.edu	37	9	130217873	130217873	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:130217873G>T	ENST00000323301.4	+	4	752	c.148G>T	c.(148-150)Gca>Tca	p.A50S	LRSAM1_ENST00000373322.1_Missense_Mutation_p.A50S|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A50S|LRSAM1_ENST00000300417.6_Missense_Mutation_p.A50S	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	50					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TGGAGCTTTTGCAACATGCAA	0.433																																					p.A50S												.	.	0			c.G148T	9						.						141.0	140.0	140.0					9																	130217873		2203	4300	6503	129257694	SO:0001583	missense	90678	exon5			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.148G>T	9.37:g.130217873G>T	ENSP00000322937:p.Ala50Ser		129257694	NM_001005373	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	G	4.635	0.117963	0.08881	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.62	4.64	0.57946	.	0.159339	0.56097	D	0.000024	T	0.15176	0.0366	N	0.00661	-1.28	0.36817	D	0.886202	B;B	0.10296	0.003;0.003	B;B	0.13407	0.009;0.008	T	0.30966	-0.9960	10	0.02654	T	1	-10.2275	12.5028	0.55966	0.0:0.0:0.8222:0.1778	.	50;50	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	S	50	ENSP00000300417:A50S;ENSP00000362421:A50S;ENSP00000322937:A50S;ENSP00000362419:A50S	ENSP00000300417:A50S	A	+	1	0	LRSAM1	129257694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.130000	0.42064	2.648000	0.89879	0.655000	0.94253	GCA		0.433	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361	
MPDZ	8777	broad.mit.edu	37	9	13113022	13113022	+	Silent	SNP	G	G	A	rs375001551		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:13113022G>A	ENST00000319217.7	-	42	5836	c.5589C>T	c.(5587-5589)gtC>gtT	p.V1863V	MPDZ_ENST00000538841.1_Silent_p.V722V|MPDZ_ENST00000381015.4_Silent_p.V1863V|MPDZ_ENST00000536827.1_Silent_p.V1801V|MPDZ_ENST00000541093.1_Silent_p.V97V|MPDZ_ENST00000541718.1_Silent_p.V1834V|MPDZ_ENST00000381022.2_Silent_p.V1834V|MPDZ_ENST00000447879.1_Silent_p.V1830V|MPDZ_ENST00000546205.1_Silent_p.V1877V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1863	PDZ 12. {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)	p.V1835V(1)		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)		TTTTCATTTCGACTGTTCTTA	0.313																																					p.V1834V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5502T	9						.	A		0,3620		0,0,1810	103.0	87.0	92.0		5502	2.1	1.0	9		92	1,8127		0,1,4063	no	coding-synonymous	MPDZ	NM_003829.3		0,1,5873	AA,AG,GG		0.0123,0.0,0.0085		1834/2042	13113022	1,11747	1810	4064	5874	13103022	SO:0001819	synonymous_variant	8777	exon40			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.5589C>T	9.37:g.13113022G>A			13103022	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37																																																																																					0.313	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
STXBP1	6812	broad.mit.edu	37	9	130432199	130432199	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:130432199G>T	ENST00000373299.1	+	11	1040	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	STXBP1_ENST00000373302.3_Missense_Mutation_p.D309Y	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	309					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)	p.D309Y(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GTCTCTGAAAGATTTTTCTTC	0.448																																					p.D309Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G925T	9						.						133.0	148.0	143.0					9																	130432199		2203	4300	6503	129472020	SO:0001583	missense	6812	exon11			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.925G>T	9.37:g.130432199G>T	ENSP00000362396:p.Asp309Tyr		129472020	NM_003165	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898056	0.72639	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.77358	-1.09;-1.09	5.58	5.58	0.84498	.	0.138028	0.64402	D	0.000004	T	0.76335	0.3973	L	0.47716	1.5	0.80722	D	1	P;B	0.34826	0.471;0.219	B;B	0.38921	0.285;0.188	T	0.77702	-0.2489	10	0.72032	D	0.01	-11.7573	17.4208	0.87514	0.0:0.0:1.0:0.0	.	309;309	P61764;P61764-2	STXB1_HUMAN;.	Y	263;309;141;309	ENSP00000362399:D309Y;ENSP00000362396:D309Y	ENSP00000362396:D309Y	D	+	1	0	STXBP1	129472020	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.489000	0.97949	2.785000	0.95823	0.650000	0.86243	GAT		0.448	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165	
FNBP1	23048	broad.mit.edu	37	9	132689618	132689618	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:132689618T>G	ENST00000446176.2	-	8	831	c.645A>C	c.(643-645)aaA>aaC	p.K215N	FNBP1_ENST00000478129.1_5'Flank|FNBP1_ENST00000355681.3_Missense_Mutation_p.K215N|FNBP1_ENST00000420781.1_Missense_Mutation_p.K215N	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	215	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.K215N(1)					Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TCTCTTGTATTTTCTGCAACA	0.393			T	MLL	AML																																p.K215N			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A645C	9						.						247.0	246.0	246.0					9																	132689618		1853	4102	5955	131729439	SO:0001583	missense	23048	exon8			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.645A>C	9.37:g.132689618T>G	ENSP00000413625:p.Lys215Asn		131729439	NM_015033	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.35|14.35	2.509735|2.509735	0.44660|0.44660	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681|ENST00000449089	T;T;T|.	0.17370|.	2.28;2.28;2.28|.	6.03|6.03	4.9|4.9	0.64082|0.64082	.|.	0.086330|0.086330	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.61924|0.61924	0.2386|0.2386	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	B;D;B;B;D;B;D|.	0.61697|.	0.184;0.989;0.071;0.228;0.989;0.28;0.99|.	B;P;B;B;P;B;P|.	0.58660|.	0.051;0.843;0.01;0.035;0.843;0.044;0.741|.	T|T	0.62025|0.62025	-0.6941|-0.6941	10|7	0.48119|0.52906	T|T	0.1|0.07	-34.915|-34.915	11.1663|11.1663	0.48545|0.48545	0.0:0.0712:0.0:0.9288|0.0:0.0712:0.0:0.9288	.|.	215;215;215;215;176;215;215|.	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3|.	.;.;.;.;.;.;FNBP1_HUMAN|.	N|T	215|177	ENSP00000413625:K215N;ENSP00000407548:K215N;ENSP00000347907:K215N|.	ENSP00000347907:K215N|ENSP00000415602:K177T	K|K	-|-	3|2	2|0	FNBP1|FNBP1	131729439|131729439	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.783000|0.783000	0.44284|0.44284	3.022000|3.022000	0.49659|0.49659	1.113000|1.113000	0.41760|0.41760	0.455000|0.455000	0.32223|0.32223	AAA|AAA		0.393	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2		
ABL1	25	broad.mit.edu	37	9	133729569	133729569	+	Silent	SNP	C	C	T	rs372724991		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:133729569C>T	ENST00000318560.5	+	2	579	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	66	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.F66F(2)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCAACCTTTTCGTTGCACTGT	0.478			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.F66F			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C198T	9						.	C	,	0,4406		0,0,2203	133.0	131.0	132.0		198,255	-11.2	0.1	9		132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABL1	NM_005157.4,NM_007313.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	66/1131,85/1150	133729569	1,13005	2203	4300	6503	132719390	SO:0001819	synonymous_variant	25	exon2			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.198C>T	9.37:g.133729569C>T			132719390	NM_005157	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																				0.478	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
POMT1	10585	broad.mit.edu	37	9	134396764	134396764	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:134396764T>C	ENST00000372228.3	+	18	1975	c.1796T>C	c.(1795-1797)aTc>aCc	p.I599T	POMT1_ENST00000404875.2_Missense_Mutation_p.I460T|POMT1_ENST00000341012.7_Missense_Mutation_p.I523T|POMT1_ENST00000423007.1_Missense_Mutation_p.I577T|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.I577T|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000354713.4_Missense_Mutation_p.I547T|POMT1_ENST00000541219.1_Missense_Mutation_p.I317T|POMT1_ENST00000419118.2_Missense_Mutation_p.I425T	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	599					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)	p.I599T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AACATAGTGATCTGGGTTTCG	0.562																																					p.I599T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1796C	9						.						188.0	143.0	158.0					9																	134396764		2203	4300	6503	133386585	SO:0001583	missense	10585	exon18			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1796T>C	9.37:g.134396764T>C	ENSP00000361302:p.Ile599Thr		133386585	NM_007171	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	T	9.031	0.987208	0.18889	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713;ENST00000372220	D;D;D;D;D;D;D;D;D	0.93906	-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.95	4.83	0.62350	.	0.148932	0.64402	D	0.000016	D	0.84451	0.5475	N	0.16098	0.37	0.39864	D	0.973424	B;B;B;B	0.14012	0.005;0.009;0.006;0.009	B;B;B;B	0.17979	0.01;0.01;0.003;0.02	T	0.78989	-0.1986	10	0.33141	T	0.24	-24.5665	6.2413	0.20793	0.0:0.1555:0.0:0.8445	.	547;317;599;577	B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	T	577;460;523;599;577;425;317;547;198	ENSP00000404119:I577T;ENSP00000384531:I460T;ENSP00000343034:I523T;ENSP00000361302:I599T;ENSP00000385797:I577T;ENSP00000403032:I425T;ENSP00000440895:I317T;ENSP00000346748:I547T;ENSP00000361294:I198T	ENSP00000343034:I523T	I	+	2	0	POMT1	133386585	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	2.452000	0.44961	2.274000	0.75844	0.533000	0.62120	ATC		0.562	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171	
RAPGEF1	2889	broad.mit.edu	37	9	134501317	134501317	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:134501317T>C	ENST00000372189.3	-	10	1766	c.1643A>G	c.(1642-1644)aAc>aGc	p.N548S	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.N566S|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.N565S|RAPGEF1_ENST00000481260.1_5'Flank	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	548					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)	p.N243S(1)|p.N566S(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ACTGTGTTTGTTTTTCTTCTC	0.433																																					p.N566S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1697G	9						.						113.0	107.0	109.0					9																	134501317		1883	4117	6000	133491138	SO:0001583	missense	2889	exon10			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1643A>G	9.37:g.134501317T>C	ENSP00000361263:p.Asn548Ser		133491138	NM_198679	Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.18|12.18	1.861765|1.861765	0.32884|0.32884	.|.	.|.	ENSG00000107263|ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686|ENST00000419442	T;T;T|.	0.23950|.	1.88;1.89;1.88|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.042383|.	0.85682|.	D|.	0.000000|.	T|T	0.58666|0.58666	0.2138|0.2138	L|L	0.39898|0.39898	1.24|1.24	0.37875|0.37875	D|D	0.930196|0.930196	B;B;B|.	0.18461|.	0.016;0.016;0.028|.	B;B;B|.	0.18871|.	0.01;0.01;0.023|.	T|T	0.60767|0.60767	-0.7198|-0.7198	10|5	0.13853|.	T|.	0.58|.	.|.	14.4298|14.4298	0.67240|0.67240	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	565;548;566|.	Q68DL3;Q13905;Q13905-3|.	.;RPGF1_HUMAN;.|.	S|A	548;565;442;548;566;528;474;243;565|7	ENSP00000361269:N565S;ENSP00000361263:N548S;ENSP00000361264:N566S|.	ENSP00000266110:N548S|.	N|T	-|-	2|1	0|0	RAPGEF1|RAPGEF1	133491138|133491138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.889000|2.889000	0.48601|0.48601	2.008000|2.008000	0.58898|0.58898	0.533000|0.533000	0.62120|0.62120	AAC|ACA		0.433	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	
NTNG2	84628	broad.mit.edu	37	9	135114495	135114495	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:135114495C>T	ENST00000393229.3	+	6	1835	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NTNG2_ENST00000393228.4_Silent_p.C345C|NTNG2_ENST00000360670.3_Silent_p.C359C	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	353	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCAGACTGCGAATGCTACG	0.587																																					p.C353C												.	.	0			c.C1059T	9						.						98.0	82.0	87.0					9																	135114495		2203	4300	6503	134104316	SO:0001819	synonymous_variant	84628	exon6			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1059C>T	9.37:g.135114495C>T			134104316	NM_032536	Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	CCDS6946.1																																																																																				0.587	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536	
SETX	23064	broad.mit.edu	37	9	135206667	135206667	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:135206667A>G	ENST00000224140.5	-	8	1189	c.1007T>C	c.(1006-1008)gTa>gCa	p.V336A	SETX_ENST00000372169.2_Missense_Mutation_p.V336A|SETX_ENST00000393220.1_Missense_Mutation_p.V336A	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	336					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V336A(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AACTAACCTTACAGAGCTGTT	0.388																																					p.V336A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1007C	9						.						135.0	125.0	128.0					9																	135206667		2203	4300	6503	134196488	SO:0001583	missense	23064	exon8			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1007T>C	9.37:g.135206667A>G	ENSP00000224140:p.Val336Ala		134196488	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	A	9.905	1.207854	0.22205	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.62788	-0.0;-0.0;-0.0	6.17	0.931	0.19460	.	0.772630	0.11806	N	0.527625	T	0.38374	0.1038	N	0.19112	0.55	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.15752	-1.0426	10	0.26408	T	0.33	.	1.7526	0.02975	0.4633:0.2053:0.2217:0.1098	.	336	Q7Z333	SETX_HUMAN	A	336	ENSP00000224140:V336A;ENSP00000361242:V336A;ENSP00000376913:V336A	ENSP00000224140:V336A	V	-	2	0	SETX	134196488	0.000000	0.05858	0.978000	0.43139	0.180000	0.23129	-0.149000	0.10204	0.549000	0.28973	0.533000	0.62120	GTA		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
GTF3C4	9329	broad.mit.edu	37	9	135553405	135553405	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:135553405C>T	ENST00000372146.4	+	2	963	c.399C>T	c.(397-399)ttC>ttT	p.F133F	GTF3C4_ENST00000483873.2_Silent_p.F133F	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	133					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.F133F(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AGGAGAAATTCGCCGCCTCCA	0.443																																					p.F133F	Pancreas(142;417 1875 11086 31973 47667)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C399T	9						.						63.0	64.0	64.0					9																	135553405		2203	4300	6503	134543226	SO:0001819	synonymous_variant	9329	exon2			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.399C>T	9.37:g.135553405C>T			134543226	NM_012204	Q5VZJ7	Silent	SNP	ENST00000372146.4	37	CCDS6953.1																																																																																				0.443	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1		
TSC1	7248	broad.mit.edu	37	9	135801122	135801122	+	Missense_Mutation	SNP	A	A	C	rs118203354		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:135801122A>C	ENST00000298552.3	-	5	436	c.215T>G	c.(214-216)cTc>cGc	p.L72R	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.L72R|TSC1_ENST00000545250.1_Intron|TSC1_ENST00000403810.1_Missense_Mutation_p.L72R	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	72			L -> P (in TSC1). {ECO:0000269|PubMed:10533069}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.L72R(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCTGTCCAAGAGGTGCTGAAA	0.433			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.L72R		yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T215G	9	GRCh37	CM992677	TSC1	M	rs118203354	.						77.0	72.0	74.0					9																	135801122		2203	4300	6503	134790943	SO:0001583	missense	7248	exon5	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.215T>G	9.37:g.135801122A>C	ENSP00000298552:p.Leu72Arg		134790943	NM_001162426	B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728794	0.89390	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000403810	D;D;D	0.91521	-2.86;-2.86;-2.86	5.35	5.35	0.76521	.	0.057047	0.64402	D	0.000001	D	0.95178	0.8437	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.997	D	0.95737	0.8780	10	0.87932	D	0	-11.6875	14.5227	0.67863	1.0:0.0:0.0:0.0	.	72;72;72;72	Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;TSC1_HUMAN	R	72	ENSP00000298552:L72R;ENSP00000394524:L72R;ENSP00000386093:L72R	ENSP00000298552:L72R	L	-	2	0	TSC1	134790943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.108000	0.94275	2.041000	0.60428	0.533000	0.62120	CTC		0.433	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1		
CACFD1	11094	broad.mit.edu	37	9	136330455	136330455	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:136330455T>C	ENST00000316948.4	+	3	286	c.206T>C	c.(205-207)tTc>tCc	p.F69S	CACFD1_ENST00000542192.1_Intron|CACFD1_ENST00000489519.1_3'UTR|CACFD1_ENST00000291722.7_Intron|CACFD1_ENST00000540581.1_Missense_Mutation_p.F69S	NM_017586.3	NP_060056.1	Q9UGQ2	FLOWR_HUMAN	calcium channel flower domain containing 1	69					synaptic vesicle endocytosis (GO:0048488)	integral component of synaptic vesicle membrane (GO:0030285)	calcium channel activity (GO:0005262)										ATGAATGCCTTCATCTTGTTG	0.597																																					p.F69S												.	.	0			c.T206C	9						.						139.0	124.0	129.0					9																	136330455		2203	4300	6503	135320276	SO:0001583	missense	11094	exon3				CCDS6974.1, CCDS48051.1, CCDS56591.1, CCDS56592.1	9q34	2012-03-06	2012-03-06	2012-03-06	ENSG00000160325	ENSG00000160325			1365	protein-coding gene	gene with protein product		613104	"""chromosome 9 open reading frame 7"""	C9orf7		19737521	Standard	NM_001242370		Approved	D9S2135, flower	uc011mdh.1	Q9UGQ2	OTTHUMG00000020875	ENST00000316948.4:c.206T>C	9.37:g.136330455T>C	ENSP00000317121:p.Phe69Ser		135320276	NM_017586	B7Z3T8|B7Z5E1|F5GXX4|Q5SXD4|Q8NBM6	Missense_Mutation	SNP	ENST00000316948.4	37	CCDS6974.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873003	0.51695	.	.	ENSG00000160325	ENST00000535514;ENST00000316948;ENST00000540581;ENST00000444798	T;T;T	0.47869	0.83;0.83;0.83	5.35	4.21	0.49690	Membrane protein, Golgi apparatus TVP18/Calcium channel flower (1);	0.100164	0.64402	N	0.000001	T	0.57388	0.2050	M	0.81942	2.565	0.80722	D	1	D;B	0.56521	0.976;0.247	P;B	0.50049	0.629;0.169	T	0.62053	-0.6935	10	0.66056	D	0.02	-25.222	10.397	0.44207	0.0:0.0772:0.0:0.9228	.	69;69	F5GXX4;Q9UGQ2	.;FLOWR_HUMAN	S	59;69;69;41	ENSP00000317121:F69S;ENSP00000440832:F69S;ENSP00000414495:F41S	ENSP00000317121:F69S	F	+	2	0	C9orf7	135320276	1.000000	0.71417	0.801000	0.32222	0.888000	0.51559	4.040000	0.57333	0.869000	0.35703	0.402000	0.26972	TTC		0.597	CACFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054915.1	NM_017586	
COL5A1	1289	broad.mit.edu	37	9	137623973	137623973	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:137623973G>A	ENST00000371817.3	+	9	1803	c.1389G>A	c.(1387-1389)ccG>ccA	p.P463P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	463	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.P463P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTATCGAGCCGGTGAGGACAT	0.587																																					p.P463P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1389A	9						.						101.0	88.0	93.0					9																	137623973		2203	4300	6503	136763794	SO:0001630	splice_region_variant	1289	exon9			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1389+1G>A	9.37:g.137623973G>A			136763794	NM_000093	Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Silent
SEC16A	9919	broad.mit.edu	37	9	139369518	139369518	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:139369518C>T	ENST00000371706.3	-	1	2049	c.2016G>A	c.(2014-2016)tcG>tcA	p.S672S	SEC16A_ENST00000313050.7_Silent_p.S850S|SEC16A_ENST00000431893.2_Silent_p.S672S|SEC16A_ENST00000290037.6_Silent_p.S672S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	672					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.S850S(3)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CATGAGAGTTCGATAAGGACA	0.512																																					p.S850S												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.G2550A	9						.						39.0	39.0	39.0					9																	139369518		1945	4140	6085	138489339	SO:0001819	synonymous_variant	9919	exon3			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2016G>A	9.37:g.139369518C>T			138489339	NM_014866	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37																																																																																					0.512	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459	
CACNA1B	774	broad.mit.edu	37	9	140901269	140901269	+	Silent	SNP	G	G	A	rs202184196		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:140901269G>A	ENST00000371372.1	+	16	2170	c.2025G>A	c.(2023-2025)tcG>tcA	p.S675S	CACNA1B_ENST00000277551.2_Silent_p.S675S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.S676S|CACNA1B_ENST00000371357.1_Silent_p.S676S|CACNA1B_ENST00000371363.1_Silent_p.S675S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	675					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGATCGAATCGCAAGGCGGCG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20498	0.0		0.001	False		,,,				2504	0.0				p.S675S												.	.	0			c.G2025A	9						.	G		1,4287		0,1,2143	146.0	147.0	147.0		2025	-8.8	0.4	9		147	1,8505		0,1,4252	no	coding-synonymous	CACNA1B	NM_000718.3		0,2,6395	AA,AG,GG		0.0118,0.0233,0.0156		675/2340	140901269	2,12792	2144	4253	6397	140021090	SO:0001819	synonymous_variant	774	exon16			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2025G>A	9.37:g.140901269G>A			140021090	NM_000718	B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
CACNA1B	774	broad.mit.edu	37	9	140948390	140948390	+	Silent	SNP	G	G	A	rs539386787	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:140948390G>A	ENST00000371372.1	+	26	4045	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	CACNA1B_ENST00000277551.2_Silent_p.A1300A|CACNA1B_ENST00000277549.5_Silent_p.A496A|CACNA1B_ENST00000371355.4_Silent_p.A1301A|CACNA1B_ENST00000371357.1_Silent_p.A1301A|CACNA1B_ENST00000371363.1_Silent_p.A1300A	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1300					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.A1300A(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCGTCATTGCGGTGCAGCTCT	0.488													G|||	2	0.000399361	0.0	0.0	5008	,	,		20442	0.0		0.0	False		,,,				2504	0.002				p.A1300A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3900A	9						.						295.0	296.0	296.0					9																	140948390		2087	4221	6308	140068211	SO:0001819	synonymous_variant	774	exon26			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3900G>A	9.37:g.140948390G>A			140068211	NM_000718	B1AQK5	Silent	SNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.488	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
KANK1	23189	broad.mit.edu	37	9	740881	740881	+	Missense_Mutation	SNP	C	C	T	rs550641108		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:740881C>T	ENST00000382303.1	+	13	4295	c.3643C>T	c.(3643-3645)Cgg>Tgg	p.R1215W	KANK1_ENST00000382297.2_Missense_Mutation_p.R1215W|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.R1057W	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1215	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.R1215W(1)|p.R1057W(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GAAGGACATGCGGATTGTGGA	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20254	0.0		0.0	False		,,,				2504	0.0				p.R1057W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3169T	9						.						151.0	125.0	134.0					9																	740881		2203	4300	6503	730881	SO:0001583	missense	23189	exon8			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3643C>T	9.37:g.740881C>T	ENSP00000371740:p.Arg1215Trp		730881	NM_153186	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555717	0.27827	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.53857	0.6;0.6;0.6	5.52	4.55	0.56014	Ankyrin repeat-containing domain (3);	0.279884	0.23943	N	0.043024	T	0.41558	0.1164	L	0.40543	1.245	0.50171	D	0.999851	B;B;B	0.27559	0.006;0.048;0.181	B;B;B	0.26416	0.019;0.013;0.069	T	0.40757	-0.9546	10	0.72032	D	0.01	-4.6119	7.343	0.26648	0.4324:0.4604:0.1072:0.0	.	261;127;1215	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	W	1215;261;1215;1057;193;127	ENSP00000371740:R1215W;ENSP00000371734:R1215W;ENSP00000371730:R1057W	ENSP00000371723:R127W	R	+	1	2	KANK1	730881	0.068000	0.21057	0.898000	0.35279	0.209000	0.24338	0.519000	0.22862	1.391000	0.46566	0.563000	0.77884	CGG		0.532	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
KANK1	23189	broad.mit.edu	37	9	742230	742230	+	Missense_Mutation	SNP	C	C	T	rs138960689		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:742230C>T	ENST00000382303.1	+	14	4374	c.3722C>T	c.(3721-3723)gCg>gTg	p.A1241V	KANK1_ENST00000382297.2_Missense_Mutation_p.A1241V|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A1083V	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1241	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.A1241V(1)|p.A1083V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCATGCTGGCGGTCAGTCAC	0.597																																					p.A1083V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C3248T	9						.	C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	111.0	115.0	113.0		3722,3248	5.4	1.0	9	dbSNP_134	113	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	KANK1	NM_015158.2,NM_153186.3	64,64	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	1241/1353,1083/1195	742230	4,13002	2203	4300	6503	732230	SO:0001583	missense	23189	exon9			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3722C>T	9.37:g.742230C>T	ENSP00000371740:p.Ala1241Val		732230	NM_153186	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433932	0.96150	2.27E-4	3.49E-4	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.80909	-1.43;-1.43;-1.43	5.38	5.38	0.77491	Ankyrin repeat-containing domain (3);	0.000000	0.50627	D	0.000101	D	0.92492	0.7616	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.984;0.961;0.999	D	0.93825	0.7122	10	0.87932	D	0	-16.0334	19.4798	0.95005	0.0:1.0:0.0:0.0	.	287;153;1241	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	V	1241;287;1241;1083;219;153	ENSP00000371740:A1241V;ENSP00000371734:A1241V;ENSP00000371730:A1083V	ENSP00000371723:A153V	A	+	2	0	KANK1	732230	1.000000	0.71417	0.959000	0.39883	0.856000	0.48823	7.689000	0.84165	2.674000	0.91012	0.655000	0.94253	GCG		0.597	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
SMARCA2	6595	broad.mit.edu	37	9	2115855	2115855	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:2115855G>A	ENST00000382203.1	+	25	3699	c.3490G>A	c.(3490-3492)Ggg>Agg	p.G1164R	SMARCA2_ENST00000349721.2_Missense_Mutation_p.G1164R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G1164R|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G1164R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1164	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.G1164R(1)|p.G1160R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCACCGCATCGGGCAGCAGAA	0.567																																					p.G1164R												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3490A	9						.						34.0	32.0	33.0					9																	2115855		2203	4300	6503	2105855	SO:0001583	missense	6595	exon25			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3490G>A	9.37:g.2115855G>A	ENSP00000371638:p.Gly1164Arg		2105855	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485476	0.84854	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.67	5.67	0.87782	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.96790	0.8952	H	0.99881	4.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98657	1.0682	10	0.87932	D	0	-20.8668	19.7699	0.96359	0.0:0.0:1.0:0.0	.	765;1164;1164	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	R	1164	ENSP00000265773:G1164R;ENSP00000349788:G1164R;ENSP00000371638:G1164R;ENSP00000371629:G1164R	ENSP00000265773:G1164R	G	+	1	0	SMARCA2	2105855	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.869000	0.99810	2.680000	0.91292	0.563000	0.77884	GGG		0.567	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
SMARCA2	6595	broad.mit.edu	37	9	2181578	2181578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:2181578C>T	ENST00000382203.1	+	30	4470	c.4261C>T	c.(4261-4263)Cga>Tga	p.R1421*	SMARCA2_ENST00000382185.1_Nonsense_Mutation_p.R67*|SMARCA2_ENST00000382186.1_Nonsense_Mutation_p.R85*|SMARCA2_ENST00000324954.5_Nonsense_Mutation_p.R67*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.R1421*|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.R1403*|SMARCA2_ENST00000302401.3_Nonsense_Mutation_p.R109*|SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.R1403*			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1421	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R1417*(1)|p.R1421*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGTTCAGGGCGACAGCTCAG	0.343																																					p.R1403X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C4207T	9						.						52.0	55.0	54.0					9																	2181578		2203	4300	6503	2171578	SO:0001587	stop_gained	6595	exon29			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.4261C>T	9.37:g.2181578C>T	ENSP00000371638:p.Arg1421*		2171578	NM_139045	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Nonsense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	45	11.849856	0.99610	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194;ENST00000452193;ENST00000302401;ENST00000324954;ENST00000423555;ENST00000382186;ENST00000417599;ENST00000382185;ENST00000382183;ENST00000416751	.	.	.	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7589	15.5636	0.76269	0.1378:0.8622:0.0:0.0	.	.	.	.	X	1421;1403;1421;1403;85;109;67;107;85;107;67;67;67	.	ENSP00000305411:R109X	R	+	1	2	SMARCA2	2171578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.733000	0.38156	2.937000	0.99478	0.650000	0.86243	CGA		0.343	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
VLDLR	7436	broad.mit.edu	37	9	2651891	2651891	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:2651891G>A	ENST00000382100.3	+	17	2709	c.2353G>A	c.(2353-2355)Gca>Aca	p.A785T	VLDLR_ENST00000382099.2_Missense_Mutation_p.A757T	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	785	Clustered O-linked oligosaccharides.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGTGACCACAGCAGTATCAGA	0.438																																					p.A757T												.	.	0			c.G2269A	9						.						111.0	101.0	104.0					9																	2651891		2203	4300	6503	2641891	SO:0001583	missense	7436	exon16				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2353G>A	9.37:g.2651891G>A	ENSP00000371532:p.Ala785Thr		2641891	NM_001018056	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	G	9.840	1.190776	0.21954	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	T;T	0.71934	-0.61;-0.61	5.11	4.2	0.49525	.	0.000000	0.46442	D	0.000299	T	0.42314	0.1197	N	0.11064	0.09	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.15665	-1.0429	10	0.12103	T	0.63	.	3.5168	0.07727	0.1398:0.1425:0.5708:0.1469	.	757;757;785	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	T	785;757;664	ENSP00000371532:A785T;ENSP00000371531:A757T	ENSP00000371524:A664T	A	+	1	0	VLDLR	2641891	0.851000	0.29673	0.991000	0.47740	0.994000	0.84299	1.849000	0.39318	2.526000	0.85167	0.591000	0.81541	GCA		0.438	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383	
KIAA0020	9933	broad.mit.edu	37	9	2831284	2831284	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:2831284C>T	ENST00000397885.2	-	6	783	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	KIAA0020_ENST00000469168.1_5'Flank	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	193	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E193K(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TTTCTCTGTTCTTCATTACCA	0.333																																					p.E193K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G577A	9						.						125.0	123.0	124.0					9																	2831284		2203	4300	6503	2821284	SO:0001583	missense	9933	exon6			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.577G>A	9.37:g.2831284C>T	ENSP00000380982:p.Glu193Lys		2821284	NM_014878	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541818	0.27563	.	.	ENSG00000080608	ENST00000397885	T	0.67345	-0.26	5.31	3.45	0.39498	Armadillo-like helical (1);Armadillo-type fold (1);	0.236476	0.50627	D	0.000112	T	0.46580	0.1400	N	0.17901	0.54	0.43536	D	0.995824	B;B	0.14012	0.009;0.009	B;B	0.18561	0.005;0.022	T	0.31052	-0.9957	10	0.20519	T	0.43	-25.7741	8.5025	0.33168	0.0:0.7584:0.0:0.2416	.	53;193	B2RDG4;Q15397	.;K0020_HUMAN	K	193	ENSP00000380982:E193K	ENSP00000380982:E193K	E	-	1	0	KIAA0020	2821284	0.326000	0.24669	1.000000	0.80357	0.780000	0.44128	0.648000	0.24828	1.395000	0.46643	-0.143000	0.13931	GAA		0.333	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878	
JAK2	3717	broad.mit.edu	37	9	5054592	5054592	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:5054592G>A	ENST00000381652.3	+	7	1138	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	JAK2_ENST00000544510.1_Missense_Mutation_p.R66Q|JAK2_ENST00000539801.1_Missense_Mutation_p.R215Q	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	215	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.R215Q(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAATGTATTCGAGCAAAGATC	0.333		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																												p.R215Q			Dom	yes		9	9p24	3717	Janus kinase 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	9						.						83.0	86.0	85.0					9																	5054592		2203	4300	6503	5044592	SO:0001583	missense	3717	exon7	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.644G>A	9.37:g.5054592G>A	ENSP00000371067:p.Arg215Gln		5044592	NM_004972	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292232	0.80914	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.72282	-0.64;-0.64;-0.64	5.81	5.81	0.92471	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.126361	0.53938	D	0.000060	T	0.73783	0.3631	M	0.82323	2.585	0.80722	D	1	P	0.34815	0.47	B	0.26416	0.069	T	0.76984	-0.2756	10	0.72032	D	0.01	-1.8713	20.0839	0.97794	0.0:0.0:1.0:0.0	.	215	O60674	JAK2_HUMAN	Q	215;215;66	ENSP00000440387:R215Q;ENSP00000371067:R215Q;ENSP00000443103:R66Q	ENSP00000371067:R215Q	R	+	2	0	JAK2	5044592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.416000	0.97383	2.742000	0.94016	0.655000	0.94253	CGA		0.333	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
INSL6	11172	broad.mit.edu	37	9	5164126	5164126	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:5164126C>A	ENST00000381641.3	-	2	494	c.429G>T	c.(427-429)gaG>gaT	p.E143D	INSL6_ENST00000510407.1_Intron	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	143					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)	p.E143D(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ATTTTGCATTCTCATGAATAT	0.338																																					p.E143D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G429T	9						.						84.0	81.0	82.0					9																	5164126		2203	4298	6501	5154126	SO:0001583	missense	11172	exon2			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.429G>T	9.37:g.5164126C>A	ENSP00000371054:p.Glu143Asp		5154126	NM_007179	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000381641.3	37	CCDS6458.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576724	0.45902	.	.	ENSG00000120210	ENST00000381641	T	0.52057	0.68	4.35	1.37	0.22104	Insulin-like (3);	0.391025	0.22344	N	0.061289	T	0.39517	0.1081	L	0.60455	1.87	0.09310	N	1	P	0.37708	0.606	B	0.38985	0.287	T	0.32798	-0.9893	10	0.62326	D	0.03	-23.0559	4.0314	0.09711	0.0:0.5809:0.1941:0.225	.	143	Q9Y581	INSL6_HUMAN	D	143	ENSP00000371054:E143D	ENSP00000371054:E143D	E	-	3	2	INSL6	5154126	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.018000	0.12568	0.308000	0.22923	0.591000	0.81541	GAG		0.338	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179	
KIAA2026	158358	broad.mit.edu	37	9	5919959	5919959	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:5919959G>T	ENST00000399933.3	-	8	6036	c.6037C>A	c.(6037-6039)Ctt>Att	p.L2013I	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L1983I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	2013								p.L1188I(1)|p.L2013I(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTAGCCAAAAGAGTAGCTGGA	0.428																																					p.L2013I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C6037A	9						.						142.0	135.0	137.0					9																	5919959		1932	4122	6054	5909959	SO:0001583	missense	158358	exon8			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.6037C>A	9.37:g.5919959G>T	ENSP00000382815:p.Leu2013Ile		5909959	NM_001017969	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	G	8.712	0.912236	0.17907	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.69	3.8	0.43715	.	0.169200	0.28349	N	0.015677	T	0.41534	0.1163	M	0.68317	2.08	0.20196	N	0.999929	B	0.06786	0.001	B	0.09377	0.004	T	0.31364	-0.9946	9	0.27082	T	0.32	-4.8158	7.0562	0.25102	0.0965:0.0:0.3575:0.546	.	2013	Q5HYC2	K2026_HUMAN	I	2013;1983	.	ENSP00000370870:L1983I	L	-	1	0	KIAA2026	5909959	0.967000	0.33354	0.982000	0.44146	0.500000	0.33767	1.028000	0.30128	0.713000	0.32060	-0.182000	0.12963	CTT		0.428	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
RANBP6	26953	broad.mit.edu	37	9	6014743	6014743	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:6014743C>T	ENST00000259569.5	-	1	875	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	289					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E289K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACTATAACTTCGAGGGCCAGC	0.408																																					p.E289K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G865A	9						.						50.0	50.0	50.0					9																	6014743		2203	4300	6503	6004743	SO:0001583	missense	26953	exon1			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.865G>A	9.37:g.6014743C>T	ENSP00000259569:p.Glu289Lys		6004743	NM_012416	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860743	0.71834	.	.	ENSG00000137040	ENST00000259569	T	0.70869	-0.52	4.34	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	D	0.86096	0.5851	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87645	0.2524	10	0.51188	T	0.08	-13.4652	15.1546	0.72730	0.0:1.0:0.0:0.0	.	289	O60518	RNBP6_HUMAN	K	289	ENSP00000259569:E289K	ENSP00000259569:E289K	E	-	1	0	RANBP6	6004743	1.000000	0.71417	0.992000	0.48379	0.934000	0.57294	6.973000	0.76116	2.698000	0.92095	0.655000	0.94253	GAA		0.408	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416	
UHRF2	115426	broad.mit.edu	37	9	6460659	6460659	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:6460659T>C	ENST00000276893.5	+	4	899	c.731T>C	c.(730-732)gTt>gCt	p.V244A		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	244	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V244A(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GAACTAAATGTTGGTGATGTG	0.388																																					p.V244A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T731C	9						.						118.0	120.0	119.0					9																	6460659		2203	4300	6503	6450659	SO:0001583	missense	115426	exon4			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.731T>C	9.37:g.6460659T>C	ENSP00000276893:p.Val244Ala		6450659	NM_152896	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	ENST00000276893.5	37	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.953082	0.53293	.	.	ENSG00000147854	ENST00000276893;ENST00000450508	D;T	0.87029	-2.2;0.74	5.97	5.97	0.96955	Domain of unknown function DUF3590 (1);	0.482250	0.23345	N	0.049189	D	0.83303	0.5225	L	0.47190	1.495	0.80722	D	1	B;B	0.27732	0.097;0.187	B;B	0.30251	0.084;0.113	T	0.81230	-0.1027	10	0.56958	D	0.05	-3.0762	10.4814	0.44695	0.0:0.0728:0.0:0.9272	.	21;244	B3KV82;Q96PU4	.;UHRF2_HUMAN	A	244;21	ENSP00000276893:V244A;ENSP00000399217:V21A	ENSP00000276893:V244A	V	+	2	0	UHRF2	6450659	0.998000	0.40836	0.968000	0.41197	0.989000	0.77384	3.549000	0.53681	2.285000	0.76669	0.477000	0.44152	GTT		0.388	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306	
GLDC	2731	broad.mit.edu	37	9	6587268	6587268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:6587268C>A	ENST00000321612.6	-	15	1873	c.1723G>T	c.(1723-1725)Gaa>Taa	p.E575*		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	575					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)	p.E575*(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTTGCAAATTCTTTCCATGTG	0.353																																					p.E575X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1723T	9						.						80.0	75.0	76.0					9																	6587268		2203	4300	6503	6577268	SO:0001587	stop_gained	2731	exon15			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1723G>T	9.37:g.6587268C>A	ENSP00000370737:p.Glu575*		6577268	NM_000170	Q2M2F8	Nonsense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	41	8.554940	0.98861	.	.	ENSG00000178445	ENST00000321612	.	.	.	5.26	5.26	0.73747	.	0.108233	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.9801	18.8784	0.92347	0.0:1.0:0.0:0.0	.	.	.	.	X	575	.	ENSP00000370737:E575X	E	-	1	0	GLDC	6577268	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	5.776000	0.68924	2.446000	0.82766	0.557000	0.71058	GAA		0.353	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170	
PTPRD	5789	broad.mit.edu	37	9	8341948	8341948	+	Silent	SNP	G	G	A	rs138863975		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:8341948G>A	ENST00000381196.4	-	37	5235	c.4692C>T	c.(4690-4692)atC>atT	p.I1564I	PTPRD_ENST00000397617.3_Silent_p.I1157I|PTPRD_ENST00000397606.3_Silent_p.I1157I|PTPRD_ENST00000540109.1_Silent_p.I1564I|PTPRD_ENST00000356435.5_Silent_p.I1564I|PTPRD_ENST00000537002.1_Silent_p.I1154I|PTPRD_ENST00000360074.4_Silent_p.I1551I|PTPRD_ENST00000358503.5_Silent_p.I1542I|PTPRD_ENST00000486161.1_Silent_p.I1157I|PTPRD_ENST00000355233.5_Silent_p.I1158I|PTPRD_ENST00000397611.3_Silent_p.I1154I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1564	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I1564I(1)|p.I1035I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATCTATGACGATGAAGCAAC	0.353										TSP Lung(15;0.13)																											p.I1154I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3462T	9						.	G	,,,,,	1,4405		0,1,2202	64.0	64.0	64.0		3462,3471,4692,3471,3474,3444	-1.7	1.0	9	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	1154/1503,1157/1506,1564/1913,1157/1506,1158/1507,1148/1497	8341948	1,13005	2203	4300	6503	8331948	SO:0001819	synonymous_variant	5789	exon24			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4692C>T	9.37:g.8341948G>A			8331948	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	CCDS43786.1																																																																																				0.353	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
PTPRD	5789	broad.mit.edu	37	9	8484264	8484264	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:8484264T>G	ENST00000381196.4	-	27	3811	c.3268A>C	c.(3268-3270)Aac>Cac	p.N1090H	PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000397606.3_Missense_Mutation_p.N669H|PTPRD_ENST00000397617.3_Missense_Mutation_p.N669H|PTPRD_ENST00000540109.1_Missense_Mutation_p.N1090H|PTPRD_ENST00000356435.5_Missense_Mutation_p.N1090H|PTPRD_ENST00000537002.1_Missense_Mutation_p.N676H|PTPRD_ENST00000360074.4_Missense_Mutation_p.N1077H|PTPRD_ENST00000358503.5_Missense_Mutation_p.N1068H|PTPRD_ENST00000486161.1_Missense_Mutation_p.N679H|PTPRD_ENST00000355233.5_Missense_Mutation_p.N679H|PTPRD_ENST00000397611.3_Missense_Mutation_p.N676H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1090	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.N1090H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAGCACTGTTTCCACGATTT	0.483										TSP Lung(15;0.13)																											p.N676H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2026C	9						.						133.0	113.0	120.0					9																	8484264		2203	4300	6503	8474264	SO:0001583	missense	5789	exon13			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3268A>C	9.37:g.8484264T>G	ENSP00000370593:p.Asn1090His		8474264	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.908264	0.72868	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	6.06	6.06	0.98353	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.042686	0.85682	D	0.000000	T	0.58566	0.2131	L	0.55481	1.735	0.80722	D	1	P;P;P;P;B;D;B;B;B	0.54397	0.9;0.913;0.804;0.831;0.013;0.966;0.03;0.003;0.006	P;B;B;B;B;P;B;B;B	0.49953	0.492;0.339;0.187;0.254;0.077;0.627;0.047;0.009;0.021	T	0.57423	-0.7814	9	.	.	.	.	16.2827	0.82703	0.0:0.0:0.0:1.0	.	669;674;679;679;676;676;1077;1090;1090	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1090;1090;1077;1068;679;669;676;676;1090;679;669	ENSP00000370593:N1090H;ENSP00000348812:N1090H;ENSP00000353187:N1077H;ENSP00000351293:N1068H;ENSP00000347373:N679H;ENSP00000380741:N669H;ENSP00000380735:N676H;ENSP00000440515:N676H;ENSP00000438164:N1090H;ENSP00000417093:N679H;ENSP00000380731:N669H	.	N	-	1	0	PTPRD	8474264	1.000000	0.71417	0.943000	0.38184	0.672000	0.39443	8.040000	0.89188	2.324000	0.78689	0.533000	0.62120	AAC		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
PTPRD	5789	broad.mit.edu	37	9	8484375	8484375	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:8484375G>T	ENST00000381196.4	-	27	3700	c.3157C>A	c.(3157-3159)Ctt>Att	p.L1053I	PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000397606.3_Missense_Mutation_p.L632I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L632I|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1053I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1053I|PTPRD_ENST00000537002.1_Missense_Mutation_p.L639I|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1040I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1031I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L642I|PTPRD_ENST00000355233.5_Missense_Mutation_p.L642I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L639I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1053	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1053I(2)|p.L1053V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCATCATAAAGAATCTAAAGA	0.338										TSP Lung(15;0.13)																											p.L639I												.	.	3	Substitution - Missense(3)	large_intestine(2)|NS(1)	c.C1915A	9						.						47.0	47.0	47.0					9																	8484375		2203	4300	6503	8474375	SO:0001583	missense	5789	exon13			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3157C>A	9.37:g.8484375G>T	ENSP00000370593:p.Leu1053Ile		8474375	NM_001040712	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183076	0.57800	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.83	5.83	0.93111	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	L	0.58101	1.795	0.80722	D	1	B;P;B;P;B;P;B;P;B	0.52842	0.138;0.956;0.378;0.824;0.071;0.731;0.13;0.558;0.004	B;P;B;B;B;B;B;B;B	0.62184	0.065;0.899;0.04;0.124;0.049;0.3;0.098;0.326;0.005	T	0.64253	-0.6451	9	.	.	.	.	19.7266	0.96166	0.0:0.0:1.0:0.0	.	632;637;642;642;639;639;1040;1053;1053	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	1053;1053;1040;1031;642;632;639;639;1053;642;632	ENSP00000370593:L1053I;ENSP00000348812:L1053I;ENSP00000353187:L1040I;ENSP00000351293:L1031I;ENSP00000347373:L642I;ENSP00000380741:L632I;ENSP00000380735:L639I;ENSP00000440515:L639I;ENSP00000438164:L1053I;ENSP00000417093:L642I;ENSP00000380731:L632I	.	L	-	1	0	PTPRD	8474375	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.439000	0.97543	2.757000	0.94681	0.563000	0.77884	CTT		0.338	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
NFIB	4781	broad.mit.edu	37	9	14307434	14307434	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:14307434C>T	ENST00000380959.3	-	2	589	c.116G>A	c.(115-117)cGc>cAc	p.R39H	NFIB_ENST00000380953.1_Missense_Mutation_p.R39H|NFIB_ENST00000397575.3_Missense_Mutation_p.R39H|NFIB_ENST00000397581.2_Missense_Mutation_p.R39H|NFIB_ENST00000380921.3_Missense_Mutation_p.R39H|NFIB_ENST00000397579.2_Missense_Mutation_p.R39H|NFIB_ENST00000380934.4_Missense_Mutation_p.R65H	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	39					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R39H(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AAAGTACTTGCGTTTTCGAGC	0.438			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																p.R65H	Esophageal Squamous(132;921 1730 14828 40753 46471)		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G194A	9						.						101.0	96.0	98.0					9																	14307434		2203	4300	6503	14297434	SO:0001583	missense	4781	exon2			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.116G>A	9.37:g.14307434C>T	ENSP00000370346:p.Arg39His		14297434	NM_001190738	G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508711	0.85282	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T	0.71817	-0.46;-0.38;-0.41;-0.56;-0.6;-0.33	5.71	5.71	0.89125	CTF transcription factor/nuclear factor 1, conserved site (1);CTF transcription factor/nuclear factor 1, N-terminal (1);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.991;0.994;0.991	D	0.85217	0.1024	10	0.87932	D	0	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	39;39;39	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	H	65;39;39;39;39;39;39	ENSP00000370321:R65H;ENSP00000370346:R39H;ENSP00000370340:R39H;ENSP00000380705:R39H;ENSP00000380711:R39H;ENSP00000380709:R39H	ENSP00000370308:R39H	R	-	2	0	NFIB	14297434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	CGC		0.438	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596	
CER1	9350	broad.mit.edu	37	9	14722278	14722278	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:14722278C>A	ENST00000380911.3	-	1	437	c.393G>T	c.(391-393)aaG>aaT	p.K131N		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	131					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)	p.K131N(1)		endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GCCAGAATTTCTTGGCTTCTT	0.512																																					p.K131N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G393T	9						.						91.0	92.0	91.0					9																	14722278		2203	4300	6503	14712278	SO:0001583	missense	9350	exon1			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"""cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)"", ""cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"""			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.393G>T	9.37:g.14722278C>A	ENSP00000370297:p.Lys131Asn		14712278	NM_005454	Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	ENST00000380911.3	37	CCDS6476.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199561	0.58126	.	.	ENSG00000147869	ENST00000380911	T	0.23754	1.89	5.21	2.34	0.29019	.	0.174548	0.40144	N	0.001169	T	0.32285	0.0824	L	0.52573	1.65	0.34251	D	0.678817	D	0.54047	0.964	P	0.53450	0.726	T	0.48198	-0.9056	10	0.72032	D	0.01	-24.0713	8.7424	0.34564	0.0:0.686:0.0:0.314	.	131	O95813	CER1_HUMAN	N	131	ENSP00000370297:K131N	ENSP00000370297:K131N	K	-	3	2	CER1	14712278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.426000	0.21363	0.786000	0.33708	0.655000	0.94253	AAG		0.512	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055453.1	NM_005454	
TTC39B	158219	broad.mit.edu	37	9	15214181	15214181	+	Silent	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:15214181A>G	ENST00000512701.2	-	4	474	c.438T>C	c.(436-438)ttT>ttC	p.F146F	TTC39B_ENST00000380850.4_Silent_p.F146F|TTC39B_ENST00000582994.1_5'UTR|TTC39B_ENST00000541445.1_Silent_p.F80F|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000355694.2_Silent_p.F80F|TTC39B_ENST00000507285.1_5'UTR|TTC39B_ENST00000507993.1_5'UTR			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	146								p.F80F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TGTTGCTTAGAAATAAGTTCA	0.363																																					p.F146F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T438C	9						.						118.0	117.0	118.0					9																	15214181		2203	4300	6503	15204181	SO:0001819	synonymous_variant	158219	exon4			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.438T>C	9.37:g.15214181A>G			15204181	NM_001168340	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	CCDS6477.2																																																																																				0.363	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574	
TTC39B	158219	broad.mit.edu	37	9	15267938	15267938	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:15267938G>A	ENST00000512701.2	-	2	285	c.249C>T	c.(247-249)ttC>ttT	p.F83F	TTC39B_ENST00000380850.4_Silent_p.F83F|TTC39B_ENST00000541445.1_Silent_p.F17F|TTC39B_ENST00000297615.5_Silent_p.F83F|TTC39B_ENST00000355694.2_Silent_p.F17F			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	83								p.F17F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AGGCATCTTCGAAAACGTCCT	0.313																																					p.F83F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C249T	9						.						69.0	70.0	69.0					9																	15267938		2203	4299	6502	15257938	SO:0001819	synonymous_variant	158219	exon2			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.249C>T	9.37:g.15267938G>A			15257938	NM_001168340	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	CCDS6477.2																																																																																				0.313	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574	
CCDC171	203238	broad.mit.edu	37	9	15846804	15846804	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:15846804G>A	ENST00000380701.3	+	22	3700	c.3372G>A	c.(3370-3372)gaG>gaA	p.E1124E	CCDC171_ENST00000297641.3_Silent_p.E1124E	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1124								p.E1124E(1)									GACTGGAGGAGAACATCCATG	0.483																																					p.E1124E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G3372A	9						.						84.0	72.0	76.0					9																	15846804		2203	4300	6503	15836804	SO:0001819	synonymous_variant	203238	exon22			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3372G>A	9.37:g.15846804G>A			15836804	NM_173550	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783622	0.16189	.	.	ENSG00000164989	ENST00000449575;ENST00000432954	.	.	.	5.82	4.92	0.64577	.	.	.	.	.	T	0.73202	0.3557	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73135	-0.4078	4	.	.	.	-7.4136	16.905	0.86124	0.0:0.1281:0.8719:0.0	.	.	.	.	K	364;178	.	.	R	+	2	0	C9orf93	15836804	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.484000	0.90445	1.436000	0.47453	0.650000	0.86243	AGA		0.483	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	
BNC2	54796	broad.mit.edu	37	9	16435954	16435954	+	Silent	SNP	G	G	A	rs186911225		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:16435954G>A	ENST00000380672.4	-	6	2295	c.2238C>T	c.(2236-2238)agC>agT	p.S746S	BNC2_ENST00000380667.2_Silent_p.S679S|BNC2_ENST00000380666.2_Silent_p.S746S|BNC2_ENST00000545497.1_Silent_p.S651S	NM_017637.5	NP_060107.3			basonuclin 2									p.S746S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CACTCACTTCGCTGTGAATGT	0.507																																					p.S746S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2238T	9						.	G		0,4406		0,0,2203	101.0	85.0	90.0		2238	-3.2	0.8	9		90	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BNC2	NM_017637.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		746/1100	16435954	1,13005	2203	4300	6503	16425954	SO:0001819	synonymous_variant	54796	exon6			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2238C>T	9.37:g.16435954G>A			16425954	NM_017637		Silent	SNP	ENST00000380672.4	37	CCDS6482.2																																																																																				0.507	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
BNC2	54796	broad.mit.edu	37	9	16436658	16436658	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:16436658G>A	ENST00000380672.4	-	6	1591	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	BNC2_ENST00000380667.2_Missense_Mutation_p.R445W|BNC2_ENST00000380666.2_Missense_Mutation_p.R512W|BNC2_ENST00000545497.1_Missense_Mutation_p.R417W	NM_017637.5	NP_060107.3			basonuclin 2									p.R512W(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAGGTGGCCCGAATTAAATCT	0.522																																					p.R512W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1534T	9						.						80.0	83.0	82.0					9																	16436658		2203	4300	6503	16426658	SO:0001583	missense	54796	exon6			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1534C>T	9.37:g.16436658G>A	ENSP00000370047:p.Arg512Trp		16426658	NM_017637		Missense_Mutation	SNP	ENST00000380672.4	37	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789847	0.70337	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.34472	1.36;1.36;1.37;1.37;1.36	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.57198	0.2037	L	0.47716	1.5	0.80722	D	1	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	D;D;D;D;D;D;D;D;D	0.87578	0.967;0.996;0.996;0.977;0.998;0.985;0.996;0.998;0.996	T	0.55541	-0.8125	10	0.72032	D	0.01	-13.2241	20.2422	0.98381	0.0:0.0:1.0:0.0	.	417;445;512;338;512;469;512;417;277	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	W	512;469;445;417;338;512;512	ENSP00000370047:R512W;ENSP00000408370:R469W;ENSP00000370042:R445W;ENSP00000444640:R417W;ENSP00000370041:R512W	ENSP00000370041:R512W	R	-	1	2	BNC2	16426658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.495000	0.73665	2.782000	0.95742	0.655000	0.94253	CGG		0.522	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637	
PLIN2	123	broad.mit.edu	37	9	19116547	19116547	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:19116547T>G	ENST00000276914.2	-	8	1192	c.1013A>C	c.(1012-1014)aAc>aCc	p.N338T	PLIN2_ENST00000411567.1_Missense_Mutation_p.N257T	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	338					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.N338T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						ATCTTGGATGTTCTGTGGTAC	0.537																																					p.N338T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1013C	9						.						157.0	116.0	130.0					9																	19116547		2203	4300	6503	19106547	SO:0001583	missense	123	exon8			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.1013A>C	9.37:g.19116547T>G	ENSP00000276914:p.Asn338Thr		19106547	NM_001122	Q9BSC3	Missense_Mutation	SNP	ENST00000276914.2	37	CCDS6490.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955125	0.73902	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.05996	3.36;3.36	5.9	5.9	0.94986	.	0.849573	0.11150	N	0.594268	T	0.16257	0.0391	M	0.71296	2.17	0.44030	D	0.99675	P	0.41673	0.759	P	0.49853	0.624	T	0.03121	-1.1070	10	0.19590	T	0.45	.	12.166	0.54131	0.0:0.0684:0.0:0.9316	.	338	Q99541	PLIN2_HUMAN	T	257;338	ENSP00000415270:N257T;ENSP00000276914:N338T	ENSP00000276914:N338T	N	-	2	0	PLIN2	19106547	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.141000	0.64814	2.249000	0.74217	0.528000	0.53228	AAC		0.537	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122	
DENND4C	55667	broad.mit.edu	37	9	19346864	19346864	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:19346864G>A	ENST00000380432.2	+	18	3275	c.3242G>A	c.(3241-3243)cGa>cAa	p.R1081Q	DENND4C_ENST00000602925.1_Missense_Mutation_p.R1317Q|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1366Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1081					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1081Q(2)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCCCCTCTCGAACTCATAAA	0.473																																					p.R1081Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G3242A	9						.						66.0	66.0	66.0					9																	19346864		2203	4300	6503	19336864	SO:0001583	missense	55667	exon18			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3242G>A	9.37:g.19346864G>A	ENSP00000369797:p.Arg1081Gln		19336864	NM_017925	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37		.	.	.	.	.	.	.	.	.	.	G	15.32	2.797864	0.50208	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	T;T	0.57273	0.41;0.41	5.46	5.46	0.80206	.	2.078500	0.01775	N	0.031421	T	0.56920	0.2018	L	0.59436	1.845	0.20074	N	0.999935	P;B;P;P	0.36048	0.534;0.36;0.534;0.47	B;B;B;B	0.35727	0.209;0.028;0.209;0.024	T	0.51996	-0.8634	10	0.27785	T	0.31	-9.5114	14.5143	0.67809	0.0725:0.0:0.9275:0.0	.	411;1081;263;1081	B7Z660;Q5VZ89-5;Q5VZ89-3;Q5VZ89	.;.;.;DEN4C_HUMAN	Q	1081;554;263;411;554;263;78	ENSP00000305795:R554Q;ENSP00000443804:R411Q	ENSP00000305795:R554Q	R	+	2	0	DENND4C	19336864	0.978000	0.34361	0.015000	0.15790	0.962000	0.63368	2.299000	0.43611	2.564000	0.86499	0.585000	0.79938	CGA		0.473	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	
FOCAD	54914	broad.mit.edu	37	9	20740309	20740309	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:20740309A>C	ENST00000380249.1	+	7	726	c.362A>C	c.(361-363)gAa>gCa	p.E121A	FOCAD_ENST00000338382.6_Missense_Mutation_p.E121A	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	121						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.E121A(1)									CAAGGTGGGGAAAAGAATATT	0.289																																					p.E121A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A362C	9						.						85.0	85.0	85.0					9																	20740309		2203	4299	6502	20730309	SO:0001583	missense	54914	exon7			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.362A>C	9.37:g.20740309A>C	ENSP00000369599:p.Glu121Ala		20730309	NM_017794	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	8.766	0.924798	0.18056	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.23950	1.88;1.88	5.43	4.3	0.51218	Domain of unknown function DUF3730 (1);	0.485574	0.22147	N	0.063967	T	0.17450	0.0419	L	0.27053	0.805	0.31926	N	0.6128	B	0.11235	0.004	B	0.09377	0.004	T	0.09796	-1.0658	10	0.36615	T	0.2	-13.394	9.4744	0.38862	0.9183:0.0:0.0817:0.0	.	121	Q5VW36	K1797_HUMAN	A	121	ENSP00000369599:E121A;ENSP00000344307:E121A	ENSP00000344307:E121A	E	+	2	0	KIAA1797	20730309	1.000000	0.71417	0.726000	0.30738	0.535000	0.34838	1.963000	0.40452	0.906000	0.36621	0.459000	0.35465	GAA		0.289	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
FOCAD	54914	broad.mit.edu	37	9	20995592	20995592	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:20995592G>A	ENST00000380249.1	+	46	5734	c.5370G>A	c.(5368-5370)aaG>aaA	p.K1790K	PTPLAD2_ENST00000513293.2_3'UTR|FOCAD_ENST00000338382.6_Silent_p.K1790K|FOCAD_ENST00000605086.1_Silent_p.K1226K	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1790						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.K1790K(1)									CAGAGTTTAAGAAGAAAGCTG	0.428																																					p.K1790K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5370A	9						.						123.0	116.0	118.0					9																	20995592		2203	4300	6503	20985592	SO:0001819	synonymous_variant	54914	exon46			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.5370G>A	9.37:g.20995592G>A			20985592	NM_017794	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	CCDS34993.1																																																																																				0.428	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
IFNA16	3449	broad.mit.edu	37	9	21217004	21217004	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:21217004C>T	ENST00000380216.1	-	1	306	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	101					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.D101N(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGGGTCTCATCCCAAGCAGCA	0.488																																					p.D101N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	9						.						135.0	131.0	132.0					9																	21217004		2203	4300	6503	21207004	SO:0001583	missense	3449	exon1				CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.301G>A	9.37:g.21217004C>T	ENSP00000369564:p.Asp101Asn		21207004	NM_002173	Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	2.715	-0.267963	0.05716	.	.	ENSG00000147885	ENST00000380216	T	0.02323	4.34	2.62	-0.639	0.11497	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.390991	0.26757	N	0.022656	T	0.01627	0.0052	N	0.13140	0.3	0.09310	N	1	B	0.06786	0.001	B	0.19391	0.025	T	0.49103	-0.8974	10	0.15066	T	0.55	.	6.96	0.24591	0.0:0.6544:0.0:0.3456	.	101	P05015	IFN16_HUMAN	N	101	ENSP00000369564:D101N	ENSP00000369564:D101N	D	-	1	0	IFNA16	21207004	0.000000	0.05858	0.024000	0.17045	0.034000	0.12701	-1.127000	0.03251	-0.118000	0.11851	0.184000	0.17185	GAT		0.488	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173	
KLHL9	55958	broad.mit.edu	37	9	21334137	21334137	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:21334137C>T	ENST00000359039.4	-	1	1242	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	KLHL9_ENST00000537938.1_Missense_Mutation_p.R173Q			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	241	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)		p.R241Q(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CAGTGGAAATCGAATATTCTT	0.438																																					p.R241Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G722A	9						.						122.0	115.0	117.0					9																	21334137		2203	4300	6503	21324137	SO:0001583	missense	55958	exon1			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.722G>A	9.37:g.21334137C>T	ENSP00000351933:p.Arg241Gln		21324137	NM_018847	Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470225	0.84533	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.80566	-1.39;-1.39	5.37	5.37	0.77165	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.91185	0.7223	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92502	0.6009	10	0.87932	D	0	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	241	Q9P2J3	KLHL9_HUMAN	Q	241;173	ENSP00000351933:R241Q;ENSP00000437733:R173Q	ENSP00000351933:R241Q	R	-	2	0	KLHL9	21324137	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.408000	0.80041	2.688000	0.91661	0.650000	0.86243	CGA		0.438	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847	
IFNA13	3447	broad.mit.edu	37	9	21367676	21367676	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:21367676C>T	ENST00000449498.1	-	1	399	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	111					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.E111K(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TGGTAGAGTTCGGTGCAGAAT	0.507																																					p.E112K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G334A	9						.						8.0	8.0	8.0					9																	21367676		1726	3644	5370	21357676	SO:0001583	missense	3447	exon1				CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.334G>A	9.37:g.21367676C>T	ENSP00000394494:p.Glu112Lys		21357676	NM_006900	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000449498.1	37	CCDS6505.2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122636	0.37436	.	.	ENSG00000233816	ENST00000449498	T	0.03635	3.86	2.56	1.64	0.23874	.	0.560128	0.18599	N	0.136513	T	0.04724	0.0128	L	0.60904	1.88	0.09310	N	1	P	0.39782	0.688	B	0.37989	0.262	T	0.29488	-1.0010	10	0.72032	D	0.01	.	6.7704	0.23591	0.0:0.8531:0.0:0.1469	.	112	E9PB07	.	K	112	ENSP00000394494:E112K	ENSP00000394494:E112K	E	-	1	0	IFNA13	21357676	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	0.068000	0.14531	0.402000	0.25451	0.313000	0.20887	GAA		0.507	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900	
IFNA13	3447	broad.mit.edu	37	9	21367955	21367955	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:21367955A>G	ENST00000449498.1	-	1	120	c.55T>C	c.(55-57)Tca>Cca	p.S19P		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	18					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S18P(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GAGCAGCTTGACTTGCAGCTG	0.537																																					p.S19P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T55C	9						.						77.0	85.0	82.0					9																	21367955		2203	4298	6501	21357955	SO:0001583	missense	3447	exon1				CCDS6505.2	9p22	2010-12-10			ENSG00000233816	ENSG00000233816		"""Interferons"""	5419	protein-coding gene	gene with protein product		147578				1385305	Standard	NM_006900		Approved		uc003zpa.2	P01562	OTTHUMG00000019675	ENST00000449498.1:c.55T>C	9.37:g.21367955A>G	ENSP00000394494:p.Ser19Pro		21357955	NM_006900	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000449498.1	37	CCDS6505.2	.	.	.	.	.	.	.	.	.	.	A	3.025	-0.201001	0.06219	.	.	ENSG00000233816	ENST00000449498	T	0.03094	4.05	2.56	-1.92	0.07618	.	0.498161	0.19193	N	0.120395	T	0.02119	0.0066	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.45673	-0.9245	10	0.14252	T	0.57	.	0.3776	0.00390	0.328:0.1983:0.2788:0.1948	.	19	E9PB07	.	P	19	ENSP00000394494:S19P	ENSP00000394494:S19P	S	-	1	0	IFNA13	21357955	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.724000	0.00809	-0.123000	0.11745	-0.946000	0.02672	TCA		0.537	IFNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051904.2	NM_006900	
IFNA2	3440	broad.mit.edu	37	9	21385050	21385050	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:21385050C>A	ENST00000380206.2	-	1	346	c.279G>T	c.(277-279)aaG>aaT	p.K93N		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	93				K -> M (in Ref. 6; AEX60802). {ECO:0000305}.	apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)	p.K93N(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		CAGATGAGTCCTTTGTGCTGA	0.502																																					p.K93N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G279T	9						.						130.0	125.0	127.0					9																	21385050		2203	4300	6503	21375050	SO:0001583	missense	3440	exon1				CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"""Interferons"""	5423	protein-coding gene	gene with protein product	"""alpha-2a interferon"", ""interferon alpha 2b"", ""interferon alpha A"""	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.279G>T	9.37:g.21385050C>A	ENSP00000369554:p.Lys93Asn		21375050	NM_000605	H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	ENST00000380206.2	37	CCDS6506.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337360	0.41398	.	.	ENSG00000188379	ENST00000380206	T	0.39787	1.06	2.97	-2.95	0.05564	.	1.026140	0.07717	N	0.943048	T	0.27169	0.0666	L	0.31664	0.95	0.09310	N	1	B	0.16396	0.017	B	0.26517	0.07	T	0.39860	-0.9593	10	0.72032	D	0.01	.	2.2148	0.03957	0.3259:0.4131:0.145:0.1159	.	93	Q6DJX8	.	N	93	ENSP00000369554:K93N	ENSP00000369554:K93N	K	-	3	2	IFNA2	21375050	0.000000	0.05858	0.000000	0.03702	0.583000	0.36354	-0.138000	0.10374	-0.343000	0.08351	-1.512000	0.00943	AAG		0.502	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051903.1	NM_000605	
IFNA1	3439	broad.mit.edu	37	9	21440837	21440837	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:21440837G>A	ENST00000276927.1	+	1	398	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	111					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.E111K(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		ATTCTGCACCGAACTCTACCA	0.507																																					p.E111K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G331A	9						.						6.0	7.0	6.0					9																	21440837		1569	3483	5052	21430837	SO:0001583	missense	3439	exon1				CCDS6508.1	9p22	2010-12-10			ENSG00000197919	ENSG00000197919		"""Interferons"""	5417	protein-coding gene	gene with protein product	"""IFN-alpha 1b"", ""interferon alpha 1b"""	147660				1385305	Standard	NM_024013		Approved	IFNA@, IFL, IFN, IFN-ALPHA, IFNA13, IFN-alphaD	uc003zpd.2	P01562	OTTHUMG00000019673	ENST00000276927.1:c.331G>A	9.37:g.21440837G>A	ENSP00000276927:p.Glu111Lys		21430837	NM_024013	D4Q9M8|Q14605|Q2M1L8|Q52LB8|Q5VYQ2|Q7M4Q1|Q8WZ68|Q9UMJ3	Missense_Mutation	SNP	ENST00000276927.1	37	CCDS6508.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817071	0.50633	.	.	ENSG00000197919	ENST00000276927	T	0.03635	3.86	3.12	3.12	0.35913	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.560128	0.18599	N	0.136513	T	0.06508	0.0167	L	0.60904	1.88	0.09310	N	1	P	0.38800	0.648	B	0.40940	0.344	T	0.14008	-1.0488	10	0.72032	D	0.01	.	11.5283	0.50593	0.0:0.0:1.0:0.0	.	111	P01562	IFNA1_HUMAN	K	111	ENSP00000276927:E111K	ENSP00000276927:E111K	E	+	1	0	IFNA1	21430837	0.002000	0.14202	0.002000	0.10522	0.012000	0.07955	1.214000	0.32419	1.742000	0.51746	0.536000	0.68110	GAA		0.507	IFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051902.1	NM_024013	
IFT74	80173	broad.mit.edu	37	9	27056348	27056348	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:27056348G>A	ENST00000443698.1	+	18	1685	c.1514G>A	c.(1513-1515)aGa>aAa	p.R505K	IFT74_ENST00000433700.1_Missense_Mutation_p.R505K|IFT74_ENST00000380062.5_Missense_Mutation_p.R505K	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	505					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)	p.R505K(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		CATCAGGAGAGAATGATATTA	0.294																																					p.R505K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1514A	9						.						86.0	85.0	85.0					9																	27056348		1804	4066	5870	27046348	SO:0001583	missense	80173	exon18			AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"""Intraflagellar transport homologs"""	21424	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 1"""	608040	"""coiled-coil domain containing 2"", ""intraflagellar transport 74 homolog (Chlamydomonas)"""	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.1514G>A	9.37:g.27056348G>A	ENSP00000404122:p.Arg505Lys		27046348	NM_001099222	Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Missense_Mutation	SNP	ENST00000443698.1	37	CCDS43793.1	.	.	.	.	.	.	.	.	.	.	G	4.125	0.021449	0.08006	.	.	ENSG00000096872	ENST00000433700;ENST00000443698;ENST00000380062	T;T;T	0.11495	2.77;2.77;2.77	5.61	1.77	0.24775	.	0.249837	0.43260	N	0.000593	T	0.04861	0.0131	N	0.10809	0.05	0.39816	D	0.972771	B	0.02656	0.0	B	0.06405	0.002	T	0.41431	-0.9509	10	0.25106	T	0.35	-9.0897	7.0443	0.25037	0.5441:0.0:0.4559:0.0	.	505	Q96LB3	IFT74_HUMAN	K	505	ENSP00000389224:R505K;ENSP00000404122:R505K;ENSP00000369402:R505K	ENSP00000369402:R505K	R	+	2	0	IFT74	27046348	1.000000	0.71417	0.966000	0.40874	0.205000	0.24178	0.887000	0.28254	0.329000	0.23460	0.655000	0.94253	AGA		0.294	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055476.2	NM_025103	
TEK	7010	broad.mit.edu	37	9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:27157925G>A	ENST00000380036.4	+	2	591	c.149G>A	c.(148-150)cGc>cAc	p.R50H	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	50	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|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 intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R50H(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGGGTGGCGCCCCCATGAG	0.502																																					p.R50H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G149A	9						.						145.0	129.0	134.0					9																	27157925		2203	4300	6503	27147925	SO:0001583	missense	7010	exon2			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.149G>A	9.37:g.27157925G>A	ENSP00000369375:p.Arg50His		27147925	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	8.919	0.960706	0.18583	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.73789	-0.75;-0.78	5.93	-2.2	0.06994	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.582526	0.15628	N	0.252547	T	0.50752	0.1634	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.31223	-0.9951	10	0.32370	T	0.25	.	12.5809	0.56390	0.5636:0.0:0.4364:0.0	.	83;50;50;50	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	H	50	ENSP00000369375:R50H;ENSP00000383977:R50H	ENSP00000343716:R50H	R	+	2	0	TEK	27147925	0.079000	0.21365	0.119000	0.21687	0.912000	0.54170	0.280000	0.18790	-0.463000	0.06973	-0.940000	0.02684	CGC		0.502	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
TEK	7010	broad.mit.edu	37	9	27158095	27158095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:27158095C>T	ENST00000380036.4	+	2	761	c.319C>T	c.(319-321)Cga>Tga	p.R107*	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Nonsense_Mutation_p.R107*	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	107	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|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 intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R107*(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AGGGCGAGTTCGAGGAGAGGC	0.463																																					p.R107X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C319T	9						.						156.0	134.0	141.0					9																	27158095		2203	4300	6503	27148095	SO:0001587	stop_gained	7010	exon2			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.319C>T	9.37:g.27158095C>T	ENSP00000369375:p.Arg107*		27148095	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	38	6.941674	0.97952	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	.	.	.	5.74	5.74	0.90152	.	0.212595	0.23465	N	0.047890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.725	0.69339	0.1447:0.8552:0.0:0.0	.	.	.	.	X	107	.	ENSP00000343716:R107X	R	+	1	2	TEK	27148095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.928000	0.56506	2.707000	0.92482	0.655000	0.94253	CGA		0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
EQTN	54586	broad.mit.edu	37	9	27296684	27296684	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:27296684C>A	ENST00000380032.3	-	2	212	c.129G>T	c.(127-129)aaG>aaT	p.K43N	EQTN_ENST00000484994.1_5'UTR|EQTN_ENST00000537675.1_Missense_Mutation_p.K43N|EQTN_ENST00000380031.1_Missense_Mutation_p.K43N	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	43					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.K43N(1)									GATCTTCATTCTTTTCTTCCT	0.289																																					p.K43N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G129T	9						.						98.0	94.0	95.0					9																	27296684		2203	4294	6497	27286684	SO:0001583	missense	54586	exon2			AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.129G>T	9.37:g.27296684C>A	ENSP00000369371:p.Lys43Asn		27286684	NM_001161585	B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Missense_Mutation	SNP	ENST00000380032.3	37	CCDS35001.1	.	.	.	.	.	.	.	.	.	.	C	3.513	-0.099290	0.07010	.	.	ENSG00000120160	ENST00000537675;ENST00000380032;ENST00000380031	T;T;T	0.31247	1.5;1.93;1.52	4.07	-8.14	0.01069	.	2.121450	0.02309	N	0.071886	T	0.10423	0.0255	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.13926	-1.0491	10	0.23891	T	0.37	.	1.1793	0.01841	0.2469:0.3321:0.2506:0.1704	.	43;43;43	B7ZMK1;Q9NQ60-2;Q9NQ60	.;.;AFAF_HUMAN	N	43	ENSP00000441630:K43N;ENSP00000369371:K43N;ENSP00000369370:K43N	ENSP00000369370:K43N	K	-	3	2	C9orf11	27286684	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.015000	0.03637	-1.808000	0.01234	-0.458000	0.05436	AAG		0.289	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641	
LINGO2	158038	broad.mit.edu	37	9	27949623	27949623	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:27949623G>A	ENST00000379992.2	-	6	1496	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	LINGO2_ENST00000308675.3_Silent_p.V349V	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	349						integral component of membrane (GO:0016021)		p.V349V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TAATGCTCAAGACCTCCAGAG	0.557																																					p.V349V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1047T	9						.						47.0	46.0	46.0					9																	27949623		2203	4300	6503	27939623	SO:0001819	synonymous_variant	158038	exon7			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1047C>T	9.37:g.27949623G>A			27939623	NM_152570	A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	CCDS6524.1																																																																																				0.557	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
LINGO2	158038	broad.mit.edu	37	9	27950328	27950328	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:27950328G>A	ENST00000379992.2	-	6	791	c.342C>T	c.(340-342)ggC>ggT	p.G114G	LINGO2_ENST00000308675.3_Silent_p.G114G	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	114						integral component of membrane (GO:0016021)		p.G114G(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTAGACGATTGCCTTTTAGGC	0.443																																					p.G114G												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C342T	9						.						136.0	135.0	135.0					9																	27950328		2203	4300	6503	27940328	SO:0001819	synonymous_variant	158038	exon7			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.342C>T	9.37:g.27950328G>A			27940328	NM_152570	A8K4K7|B2RPM5|Q6ZMD0	Silent	SNP	ENST00000379992.2	37	CCDS6524.1																																																																																				0.443	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
ACO1	48	broad.mit.edu	37	9	32418190	32418190	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:32418190T>G	ENST00000309951.6	+	5	607	c.469T>G	c.(469-471)Tta>Gta	p.L157V	ACO1_ENST00000541043.1_Missense_Mutation_p.L58V|ACO1_ENST00000379923.1_Missense_Mutation_p.L157V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	157					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		ATTTGAATTTTTAAAGGTATG	0.408																																					p.L157V												.	.	0			c.T469G	9						.						60.0	65.0	63.0					9																	32418190		2203	4300	6503	32408190	SO:0001583	missense	48	exon5			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.469T>G	9.37:g.32418190T>G	ENSP00000309477:p.Leu157Val		32408190	NM_002197	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.922212	0.73213	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.62498	0.02;0.02;0.02	6.06	2.45	0.29901	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	H	0.96333	3.805	0.53688	D	0.999979	D	0.63880	0.993	D	0.65874	0.939	D	0.83480	0.0064	10	0.87932	D	0	-4.3246	9.2594	0.37603	0.0:0.2034:0.0:0.7966	.	157	P21399	ACOC_HUMAN	V	193;157;157;157;58	ENSP00000309477:L157V;ENSP00000369255:L157V;ENSP00000438733:L58V	ENSP00000309477:L157V	L	+	1	2	ACO1	32408190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.624000	0.37018	0.513000	0.28278	0.533000	0.62120	TTA		0.408	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197	
ACO1	48	broad.mit.edu	37	9	32423350	32423350	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:32423350A>C	ENST00000309951.6	+	9	1142	c.1004A>C	c.(1003-1005)aAa>aCa	p.K335T	ACO1_ENST00000541043.1_Missense_Mutation_p.K236T|ACO1_ENST00000379923.1_Missense_Mutation_p.K335T	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	335					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.K335T(1)		breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TATATTAAAAAATATCTTCAG	0.363																																					p.K335T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1004C	9						.						68.0	72.0	70.0					9																	32423350		2203	4300	6503	32413350	SO:0001583	missense	48	exon9			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1004A>C	9.37:g.32423350A>C	ENSP00000309477:p.Lys335Thr		32413350	NM_002197	D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044980	0.36085	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.17370	2.28;2.28;2.28	6.17	3.79	0.43588	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.330355	0.39544	N	0.001327	T	0.10465	0.0256	N	0.13098	0.295	0.53688	D	0.999973	B;B	0.11235	0.004;0.0	B;B	0.17098	0.017;0.006	T	0.11842	-1.0571	10	0.40728	T	0.16	-8.0461	10.1709	0.42908	0.8622:0.0:0.1378:0.0	.	371;335	Q59FI0;P21399	.;ACOC_HUMAN	T	371;335;335;335;236	ENSP00000309477:K335T;ENSP00000369255:K335T;ENSP00000438733:K236T	ENSP00000309477:K335T	K	+	2	0	ACO1	32413350	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	1.595000	0.36708	0.534000	0.28695	0.533000	0.62120	AAA		0.363	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197	
TOPORS	10210	broad.mit.edu	37	9	32542463	32542463	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:32542463C>A	ENST00000360538.2	-	3	2176	c.2060G>T	c.(2059-2061)aGa>aTa	p.R687I	TOPORS_ENST00000379858.1_Missense_Mutation_p.R622I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	687	Arg-rich.|Interaction with TOP1.|Interaction with p53/TP53.				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)	p.R687I(1)		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)		ATAACGATCTCTATTTCTGCT	0.383																																					p.R622I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1865T	9						.						189.0	194.0	192.0					9																	32542463		2203	4300	6503	32532463	SO:0001583	missense	10210	exon2			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.2060G>T	9.37:g.32542463C>A	ENSP00000353735:p.Arg687Ile		32532463	NM_001195622	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441516	0.43326	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.19105	2.17;2.24	6.16	4.31	0.51392	.	0.000000	0.52532	D	0.000061	T	0.17238	0.0414	N	0.24115	0.695	0.50171	D	0.999851	P	0.49961	0.93	P	0.44732	0.459	T	0.00666	-1.1619	10	0.52906	T	0.07	-14.276	12.8985	0.58113	0.0:0.883:0.0:0.117	.	687	Q9NS56	TOPRS_HUMAN	I	687;622	ENSP00000353735:R687I;ENSP00000369187:R622I	ENSP00000353735:R687I	R	-	2	0	TOPORS	32532463	0.933000	0.31639	1.000000	0.80357	0.968000	0.65278	1.714000	0.37961	2.937000	0.99478	0.650000	0.86243	AGA		0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
TAF1L	138474	broad.mit.edu	37	9	32632302	32632302	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:32632302C>A	ENST00000242310.4	-	1	3365	c.3276G>T	c.(3274-3276)caG>caT	p.Q1092H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1092					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.Q1092H(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAACCTTGTTCTGTAGGTCAA	0.443																																					p.Q1092H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3276T	9						.						197.0	175.0	182.0					9																	32632302		2203	4300	6503	32622302	SO:0001583	missense	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3276G>T	9.37:g.32632302C>A	ENSP00000418379:p.Gln1092His		32622302	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160262	0.57368	.	.	ENSG00000122728	ENST00000242310	T	0.18502	2.21	0.479	-0.63	0.11530	.	0.000000	0.85682	D	0.000000	T	0.33614	0.0869	M	0.78801	2.425	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.06075	-1.0847	10	0.87932	D	0	.	4.4844	0.11783	0.0:0.682:0.0:0.318	.	1092	Q8IZX4	TAF1L_HUMAN	H	1092	ENSP00000418379:Q1092H	ENSP00000418379:Q1092H	Q	-	3	2	TAF1L	32622302	1.000000	0.71417	0.989000	0.46669	0.681000	0.39784	1.634000	0.37123	-0.347000	0.08299	0.195000	0.17529	CAG		0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	broad.mit.edu	37	9	32633044	32633044	+	Missense_Mutation	SNP	C	C	T	rs34787787		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:32633044C>T	ENST00000242310.4	-	1	2623	c.2534G>A	c.(2533-2535)cGa>cAa	p.R845Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	845			R -> Q (in dbSNP:rs34787787). {ECO:0000269|PubMed:17344846}.		DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R845Q(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCTTCCATTCGTATCCTCCG	0.458																																					p.R845Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2534A	9						.						108.0	114.0	112.0					9																	32633044		2203	4300	6503	32623044	SO:0001583	missense	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2534G>A	9.37:g.32633044C>T	ENSP00000418379:p.Arg845Gln		32623044	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332547	0.41297	.	.	ENSG00000122728	ENST00000242310	T	0.13307	2.6	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.28366	0.0701	M	0.79475	2.455	0.52501	D	0.999959	D	0.61080	0.989	P	0.59643	0.861	T	0.03852	-1.0998	10	0.72032	D	0.01	.	7.8312	0.29344	0.0:1.0:0.0:0.0	rs34787787	845	Q8IZX4	TAF1L_HUMAN	Q	845	ENSP00000418379:R845Q	ENSP00000418379:R845Q	R	-	2	0	TAF1L	32623044	1.000000	0.71417	0.997000	0.53966	0.882000	0.50991	4.927000	0.63440	0.632000	0.30432	0.195000	0.17529	CGA		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	broad.mit.edu	37	9	32633390	32633390	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:32633390C>A	ENST00000242310.4	-	1	2277	c.2188G>T	c.(2188-2190)Gat>Tat	p.D730Y	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	730					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.D730Y(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCTCCAGGATCTTTGCCAGGT	0.428																																					p.D730Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2188T	9						.						170.0	169.0	170.0					9																	32633390		2203	4300	6503	32623390	SO:0001583	missense	138474	exon1			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2188G>T	9.37:g.32633390C>A	ENSP00000418379:p.Asp730Tyr		32623390	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187813	0.38609	.	.	ENSG00000122728	ENST00000242310	T	0.41758	0.99	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	M	0.85710	2.77	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.62469	-0.6848	10	0.87932	D	0	.	7.0483	0.25059	0.0:0.9999:0.0:1.0E-4	.	730	Q8IZX4	TAF1L_HUMAN	Y	730	ENSP00000418379:D730Y	ENSP00000418379:D730Y	D	-	1	0	TAF1L	32623390	1.000000	0.71417	0.995000	0.50966	0.821000	0.46438	4.970000	0.63742	0.632000	0.30432	0.195000	0.17529	GAT		0.428	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
NFX1	4799	broad.mit.edu	37	9	33352713	33352713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:33352713C>T	ENST00000379540.3	+	17	2787	c.2725C>T	c.(2725-2727)Caa>Taa	p.Q909*	Y_RNA_ENST00000363674.1_RNA|NFX1_ENST00000379521.4_Nonsense_Mutation_p.Q909*	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	909					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q909*(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TAGTACTTATCAAAGGTTAGT	0.378																																					p.Q909X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2725T	9						.						217.0	184.0	195.0					9																	33352713		2203	4300	6503	33342713	SO:0001587	stop_gained	4799	exon17			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2725C>T	9.37:g.33352713C>T	ENSP00000368856:p.Gln909*		33342713	NM_002504	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Nonsense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	C	40	8.322406	0.98759	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000263220	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.4725	0.84115	0.0:1.0:0.0:0.0	.	.	.	.	X	909;909;107	.	ENSP00000263220:Q107X	Q	+	1	0	NFX1	33342713	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.867000	0.75511	2.550000	0.86006	0.650000	0.86243	CAA		0.378	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		
UBAP2	55833	broad.mit.edu	37	9	33933619	33933619	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:33933619C>A	ENST00000379238.1	-	18	2094	c.1977G>T	c.(1975-1977)aaG>aaT	p.K659N	UBAP2_ENST00000360802.1_Missense_Mutation_p.K659N|UBAP2_ENST00000418786.2_Missense_Mutation_p.K606N|UBAP2_ENST00000379239.4_Missense_Mutation_p.K392N|UBAP2_ENST00000539807.1_Missense_Mutation_p.K414N|UBAP2_ENST00000449054.1_Missense_Mutation_p.K659N|SNORD121B_ENST00000458838.1_RNA					ubiquitin associated protein 2									p.K659N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGCCTGTTGTCTTTGGAGCTG	0.517																																					p.K659N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1977T	9						.						101.0	88.0	92.0					9																	33933619		2203	4300	6503	33923619	SO:0001583	missense	55833	exon18			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1977G>T	9.37:g.33933619C>A	ENSP00000368540:p.Lys659Asn		33923619	NM_018449		Missense_Mutation	SNP	ENST00000379238.1	37	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900818	0.72754	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786	T;T;T;T;T;T	0.19394	2.64;2.64;2.64;2.41;2.42;2.15	5.8	5.8	0.92144	.	0.424226	0.25792	N	0.028273	T	0.37183	0.0994	L	0.29908	0.895	0.46241	D	0.998947	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.997;0.994;0.996	T	0.02167	-1.1202	10	0.32370	T	0.25	-7.1047	20.0493	0.97618	0.0:1.0:0.0:0.0	.	606;584;414;392;568;584;659	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;.;UBAP2_HUMAN	N	659;659;659;568;392;414;606	ENSP00000368540:K659N;ENSP00000416932:K659N;ENSP00000354039:K659N;ENSP00000368541:K392N;ENSP00000439329:K414N;ENSP00000404436:K606N	ENSP00000354039:K659N	K	-	3	2	UBAP2	33923619	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	3.763000	0.55257	2.745000	0.94114	0.491000	0.48974	AAG		0.517	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	
GALT	2592	broad.mit.edu	37	9	34650384	34650384	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:34650384G>A	ENST00000378842.3	+	11	1120	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	IL11RA_ENST00000555003.1_5'Flank|GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Missense_Mutation_p.A251T|IL11RA_ENST00000441545.2_5'Flank|GALT_ENST00000488412.2_3'UTR	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	360					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)	p.A360T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GAGACTAAGGGCACTTCCTGA	0.507									Galactosemia																												p.A360T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1078A	9						.						96.0	84.0	88.0					9																	34650384		2203	4300	6503	34640384	SO:0001583	missense	2592	exon11	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.1078G>A	9.37:g.34650384G>A	ENSP00000368119:p.Ala360Thr		34640384	NM_000155	B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675017	0.47781	.	.	ENSG00000213930	ENST00000450095;ENST00000378842	D;D	0.99245	-5.62;-5.62	3.95	3.05	0.35203	Histidine triad motif (1);Galactose-1-phosphate uridyl transferase, C-terminal (1);Histidine triad-like motif (1);	0.399441	0.23874	U	0.043707	D	0.97284	0.9112	L	0.58810	1.83	0.27839	N	0.941178	B;B	0.29270	0.24;0.003	B;B	0.25987	0.065;0.026	D	0.93831	0.7128	10	0.26408	T	0.33	-0.0644	6.2691	0.20945	0.2275:0.0:0.7725:0.0	.	251;360	E7ET32;P07902	.;GALT_HUMAN	T	251;360	ENSP00000401956:A251T;ENSP00000368119:A360T	ENSP00000368119:A360T	A	+	1	0	GALT	34640384	0.980000	0.34600	0.998000	0.56505	0.978000	0.69477	1.580000	0.36547	1.003000	0.39130	0.561000	0.74099	GCA		0.507	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155	
KIAA1045	23349	broad.mit.edu	37	9	34971592	34971592	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:34971592C>A	ENST00000242315.3	+	2	379	c.297C>A	c.(295-297)ttC>ttA	p.F99L	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.F99L	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	99							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAAGTCGATTCACACCCCCTG	0.622																																					p.F99L												.	.	0			c.C297A	9						.						115.0	130.0	125.0					9																	34971592		1989	4163	6152	34961592	SO:0001583	missense	23349	exon2			AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.297C>A	9.37:g.34971592C>A	ENSP00000242315:p.Phe99Leu		34961592	NM_015297	B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	c	6.776	0.512100	0.12944	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.93	3.14	0.36123	.	0.190731	0.46442	D	0.000292	T	0.38585	0.1046	L	0.35414	1.06	0.32461	N	0.544125	B	0.20988	0.05	B	0.20955	0.032	T	0.40213	-0.9575	8	.	.	.	-10.9349	10.6458	0.45619	0.0:0.7941:0.0:0.2059	.	99	Q9UPV7	K1045_HUMAN	L	99	.	.	F	+	3	2	KIAA1045	34961592	1.000000	0.71417	0.950000	0.38849	0.149000	0.21700	1.829000	0.39121	0.428000	0.26173	-0.140000	0.14226	TTC		0.622	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592	
C9orf131	138724	broad.mit.edu	37	9	35043726	35043726	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:35043726A>G	ENST00000312292.5	+	2	1147	c.1100A>G	c.(1099-1101)gAc>gGc	p.D367G	C9orf131_ENST00000421362.2_Missense_Mutation_p.D319G|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.D294G	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	367								p.D367G(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ATATCTAAGGACTTCTGGGGA	0.547																																					p.D294G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A881G	9						.						138.0	156.0	150.0					9																	35043726		2203	4299	6502	35033726	SO:0001583	missense	138724	exon2			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1100A>G	9.37:g.35043726A>G	ENSP00000308279:p.Asp367Gly		35033726	NM_001040411	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	A	14.23	2.473532	0.43942	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292	T;T;T	0.18810	2.2;2.19;2.21	4.75	-0.739	0.11120	.	0.385935	0.22199	N	0.063268	T	0.14442	0.0349	L	0.43923	1.385	0.09310	N	1	P;P;P	0.40731	0.728;0.573;0.728	B;B;B	0.38378	0.272;0.272;0.272	T	0.13255	-1.0516	10	0.40728	T	0.16	-0.4922	7.0397	0.25013	0.535:0.3741:0.0908:0.0	.	367;294;319	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	G	319;294;367	ENSP00000393683:D319G;ENSP00000346472:D294G;ENSP00000308279:D367G	ENSP00000308279:D367G	D	+	2	0	C9orf131	35033726	0.000000	0.05858	0.000000	0.03702	0.369000	0.29798	-0.486000	0.06513	-0.192000	0.10432	0.533000	0.62120	GAC		0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
PIGO	84720	broad.mit.edu	37	9	35092618	35092618	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:35092618C>T	ENST00000378617.3	-	7	1660	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	PIGO_ENST00000298004.5_Silent_p.P422P|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Silent_p.P422P|PIGO_ENST00000361778.2_Silent_p.P422P	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	422					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.P422P(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAATCACAGTCGGCAGTGTCG	0.607																																					p.P422P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1266A	9						.						68.0	71.0	70.0					9																	35092618		2200	4292	6492	35082618	SO:0001819	synonymous_variant	84720	exon7			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1266G>A	9.37:g.35092618C>T			35082618	NM_032634	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	CCDS6575.1																																																																																				0.607	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634	
STOML2	30968	broad.mit.edu	37	9	35100957	35100957	+	Missense_Mutation	SNP	C	C	T	rs201944176		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:35100957C>T	ENST00000356493.5	-	8	838	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	STOML2_ENST00000487490.1_5'Flank|STOML2_ENST00000452248.2_Missense_Mutation_p.R214Q|RP11-182N22.8_ENST00000431804.1_RNA	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	259					CD4-positive, alpha-beta T cell activation (GO:0035710)|cellular calcium ion homeostasis (GO:0006874)|interleukin-2 production (GO:0032623)|lipid localization (GO:0010876)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|mitochondrial calcium ion transport (GO:0006851)|mitochondrial protein processing (GO:0034982)|mitochondrion organization (GO:0007005)|positive regulation of cardiolipin metabolic process (GO:1900210)|positive regulation of mitochondrial DNA replication (GO:0090297)|positive regulation of mitochondrial membrane potential (GO:0010918)|protein oligomerization (GO:0051259)|stress-induced mitochondrial fusion (GO:1990046)|T cell receptor signaling pathway (GO:0050852)	cytoskeleton (GO:0005856)|extrinsic component of plasma membrane (GO:0019897)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	cardiolipin binding (GO:1901612)|receptor binding (GO:0005102)	p.R259Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCCAGGATTCGAATAGCTTC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18358	0.001		0.0	False		,,,				2504	0.0				p.R259Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G776A	9						.						187.0	186.0	186.0					9																	35100957		2203	4300	6503	35090957	SO:0001583	missense	30968	exon8			AF190167	CCDS6577.1, CCDS69588.1, CCDS75830.1	9p13.1	2008-02-05			ENSG00000165283	ENSG00000165283			14559	protein-coding gene	gene with protein product		608292				10713127, 17121834	Standard	NM_001287031		Approved	SLP-2, HSPC108	uc003zwi.3	Q9UJZ1	OTTHUMG00000019851	ENST00000356493.5:c.776G>A	9.37:g.35100957C>T	ENSP00000348886:p.Arg259Gln		35090957	NM_013442	B4E1K7|D3DRN3|O60376|Q53G29|Q96FY2|Q9P042	Missense_Mutation	SNP	ENST00000356493.5	37	CCDS6577.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.87	1.471936	0.26423	.	.	ENSG00000165283	ENST00000356493;ENST00000452248	D;D	0.98164	-3.52;-4.76	5.16	3.29	0.37713	.	0.334930	0.30989	N	0.008473	D	0.93605	0.7958	N	0.20881	0.62	0.39617	D	0.969972	B;B	0.18013	0.025;0.013	B;B	0.14023	0.01;0.003	D	0.88275	0.2932	10	0.15952	T	0.53	-21.6388	7.5811	0.27965	0.0:0.6997:0.1391:0.1611	.	214;259	B4E1K7;Q9UJZ1	.;STML2_HUMAN	Q	259;214	ENSP00000348886:R259Q;ENSP00000395743:R214Q	ENSP00000348886:R259Q	R	-	2	0	STOML2	35090957	0.994000	0.37717	0.816000	0.32577	0.929000	0.56500	2.759000	0.47573	0.739000	0.32628	-0.251000	0.11542	CGA		0.537	STOML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052273.1	NM_013442	
UNC13B	10497	broad.mit.edu	37	9	35295718	35295718	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:35295718C>T	ENST00000378495.3	+	8	774	c.552C>T	c.(550-552)gtC>gtT	p.V184V	UNC13B_ENST00000378496.4_Silent_p.V184V|UNC13B_ENST00000396787.1_Silent_p.V196V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	184					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.V184V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATAGTGCCGTCGATGACCGAG	0.463																																					p.V184V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C552T	9						.						132.0	115.0	121.0					9																	35295718		2203	4300	6503	35285718	SO:0001819	synonymous_variant	10497	exon8			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.552C>T	9.37:g.35295718C>T			35285718	NM_006377	Q5VYM8	Silent	SNP	ENST00000378495.3	37	CCDS6579.1																																																																																				0.463	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
TESK1	7016	broad.mit.edu	37	9	35607377	35607377	+	Silent	SNP	C	C	T	rs368481070		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:35607377C>T	ENST00000336395.5	+	5	841	c.591C>T	c.(589-591)ttC>ttT	p.F197F	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_Intron|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.F197F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGTGACTTCGGGCTGGCCG	0.557																																					p.F197F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C591T	9						.	C		0,4406		0,0,2203	155.0	137.0	143.0		591	-5.8	0.8	9		143	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TESK1	NM_006285.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		197/627	35607377	1,13005	2203	4300	6503	35597377	SO:0001819	synonymous_variant	7016	exon5			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.591C>T	9.37:g.35607377C>T			35597377	NM_006285	Q8IXZ8	Silent	SNP	ENST00000336395.5	37	CCDS6580.1																																																																																				0.557	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285	
CD72	971	broad.mit.edu	37	9	35612862	35612862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:35612862C>A	ENST00000396757.1	-	7	981	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Nonsense_Mutation_p.E273*			P21854	CD72_HUMAN	CD72 molecule	273	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)	p.E273*(1)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGATAAATTTCACTGAATGTG	0.413																																					p.E273X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G817T	9						.						267.0	239.0	248.0					9																	35612862		2203	4300	6503	35602862	SO:0001587	stop_gained	971	exon6				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.817G>T	9.37:g.35612862C>A	ENSP00000379980:p.Glu273*		35602862	NM_001782		Nonsense_Mutation	SNP	ENST00000396757.1	37	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688905	0.48097	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	.	.	.	4.6	-0.671	0.11381	.	2.545800	0.01200	N	0.007542	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	2.6558	4.3984	0.11374	0.0:0.4079:0.3154:0.2767	.	.	.	.	X	273	.	ENSP00000259633:E273X	E	-	1	0	CD72	35602862	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.597000	0.02089	-0.209000	0.10156	-0.176000	0.13171	GAA		0.413	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782	
NPR2	4882	broad.mit.edu	37	9	35810657	35810657	+	IGR	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:35810657C>A	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'UTR|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_Missense_Mutation_p.E354D|SPAG8_ENST00000340291.2_Missense_Mutation_p.E354D|SPAG8_ENST00000484764.1_Missense_Mutation_p.E352D|HINT2_ENST00000474908.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E354D(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCAGGAGCATCTCCAGCATGG	0.542																																					p.E354D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1062T	9						.						60.0	58.0	59.0					9																	35810657		2203	4300	6503	35800657	SO:0001628	intergenic_variant	26206	exon4			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810657C>A			35800657	NM_172312	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.63|14.63	2.591298|2.591298	0.46214|0.46214	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638|ENST00000497810	T;T;T|.	0.37411|.	1.22;1.2;1.2|.	5.51|5.51	2.67|2.67	0.31697|0.31697	.|.	0.084022|.	0.42053|.	D|.	0.000773|.	T|T	0.42154|0.42154	0.1190|0.1190	L|L	0.54323|0.54323	1.7|1.7	0.28016|0.28016	N|N	0.934693|0.934693	D;D|.	0.69078|.	0.99;0.997|.	P;D|.	0.66196|.	0.896;0.942|.	T|T	0.31251|0.31251	-0.9950|-0.9950	10|5	0.72032|.	D|.	0.01|.	-11.6472|-11.6472	7.2156|7.2156	0.25957|0.25957	0.0:0.7423:0.0:0.2577|0.0:0.7423:0.0:0.2577	.|.	354;354|.	E9PDV6;Q99932-2|.	.;.|.	D|I	354;352;354|352	ENSP00000340982:E354D;ENSP00000418072:E352D;ENSP00000379878:E354D|.	ENSP00000340982:E354D|.	E|R	-|-	3|2	2|0	SPAG8|SPAG8	35800657|35800657	0.007000|0.007000	0.16637|0.16637	0.998000|0.998000	0.56505|0.56505	0.563000|0.563000	0.35712|0.35712	-0.106000|-0.106000	0.10890|0.10890	1.329000|1.329000	0.45376|0.45376	-0.136000|-0.136000	0.14681|0.14681	GAG|AGA		0.542	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
NPR2	4882	broad.mit.edu	37	9	35811028	35811028	+	IGR	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:35811028G>A	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'UTR|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_Silent_p.V297V|SPAG8_ENST00000340291.2_Silent_p.V297V|SPAG8_ENST00000484764.1_Silent_p.V295V|HINT2_ENST00000474908.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.V297V(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GCATGCTTGGGACTTGATCCA	0.522																																					p.V297V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C891T	9						.						138.0	141.0	140.0					9																	35811028		2203	4300	6503	35801028	SO:0001628	intergenic_variant	26206	exon3			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811028G>A			35801028	NM_172312	B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	9.760	1.169958	0.21621	.	.	ENSG00000137098	ENST00000497810	.	.	.	5.99	1.05	0.20165	.	.	.	.	.	T	0.58821	0.2149	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56968	-0.7891	5	0.87932	D	0	-9.9657	4.6148	0.12420	0.3233:0.1515:0.5252:0.0	.	.	.	.	F	295	.	ENSP00000419280:S50F	S	-	2	0	SPAG8	35801028	0.640000	0.27243	0.999000	0.59377	0.998000	0.95712	-0.241000	0.08940	0.134000	0.18681	0.655000	0.94253	TCC		0.522	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1		
TMEM8B	51754	broad.mit.edu	37	9	35842452	35842452	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:35842452C>A	ENST00000377991.4	+	7	1032	c.17C>A	c.(16-18)tCc>tAc	p.S6Y	TMEM8B_ENST00000377996.1_Missense_Mutation_p.S6Y|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000377988.2_Missense_Mutation_p.S6Y|TMEM8B_ENST00000439587.2_Missense_Mutation_p.S6Y	NM_001042589.2	NP_001036054.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	6					cell-matrix adhesion (GO:0007160)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle (GO:0007346)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S6Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						ATGCCCCAGTCCCTGGGCAAC	0.697																																					p.S6Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C17A	9						.						24.0	24.0	24.0					9																	35842452		2201	4299	6500	35832452	SO:0001583	missense	51754	exon7			BC043384	CCDS6595.1, CCDS43800.1	9p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000137103	ENSG00000137103			21427	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma expressed 6"""		"""chromosome 9 open reading frame 127"""	C9orf127		12918109, 8619474	Standard	NM_016446		Approved	NAG-5, NGX6	uc003zym.4	A6NDV4	OTTHUMG00000019885	ENST00000377991.4:c.17C>A	9.37:g.35842452C>A	ENSP00000367230:p.Ser6Tyr		35832452	NM_016446	B3KQF3|O75539|Q49AB1|Q4KMX5|Q5TCW5|Q9HBY2|Q9P0U7	Missense_Mutation	SNP	ENST00000377991.4	37	CCDS43800.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132066	0.94473	.	.	ENSG00000137103	ENST00000377996;ENST00000439587;ENST00000377991;ENST00000377988	T;T;T;T	0.55052	0.54;0.54;0.62;0.62	5.54	5.54	0.83059	.	0.138003	0.53938	D	0.000041	T	0.61862	0.2381	N	0.22421	0.69	0.58432	D	0.999992	D;D	0.89917	0.995;1.0	P;D	0.78314	0.795;0.991	T	0.65635	-0.6120	10	0.87932	D	0	-7.2159	18.424	0.90602	0.0:1.0:0.0:0.0	.	6;370	A6NDV4;Q5TCW0	TMM8B_HUMAN;.	Y	6	ENSP00000367235:S6Y;ENSP00000395810:S6Y;ENSP00000367230:S6Y;ENSP00000367227:S6Y	ENSP00000367227:S6Y	S	+	2	0	TMEM8B	35832452	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.493000	0.66899	2.769000	0.95229	0.563000	0.77884	TCC		0.697	TMEM8B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052388.2	NM_016446	
MELK	9833	broad.mit.edu	37	9	36669327	36669327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:36669327G>T	ENST00000298048.2	+	15	1613	c.1429G>T	c.(1429-1431)Gaa>Taa	p.E477*	MELK_ENST00000536860.1_Nonsense_Mutation_p.E429*|MELK_ENST00000545008.1_Nonsense_Mutation_p.E406*|MELK_ENST00000538311.1_Nonsense_Mutation_p.E283*|MELK_ENST00000543751.1_Nonsense_Mutation_p.E445*|MELK_ENST00000536987.1_Nonsense_Mutation_p.E346*|MELK_ENST00000541717.1_Nonsense_Mutation_p.E436*|MELK_ENST00000536329.1_Nonsense_Mutation_p.E406*	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	477	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.E477*(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GTGCCTGAAAGAAACTCCAAT	0.353																																					p.E477X	Ovarian(82;980 1317 7225 14391 18624)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1429T	9						.						124.0	122.0	123.0					9																	36669327		2203	4300	6503	36659327	SO:0001587	stop_gained	9833	exon15			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1429G>T	9.37:g.36669327G>T	ENSP00000298048:p.Glu477*		36659327	NM_014791	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Nonsense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	G	38	6.745865	0.97809	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	.	.	.	5.41	5.41	0.78517	.	0.260841	0.42964	D	0.000627	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-12.4355	16.9948	0.86363	0.0:0.0:1.0:0.0	.	.	.	.	X	477;283;346;406;429;406;436;445	.	ENSP00000298048:E477X	E	+	1	0	MELK	36659327	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.772000	0.68889	2.536000	0.85505	0.650000	0.86243	GAA		0.353	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791	
ZNF658	26149	broad.mit.edu	37	9	40773362	40773362	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:40773362G>T	ENST00000602553.1	-	5	2207	c.1913C>A	c.(1912-1914)tCt>tAt	p.S638Y	ZNF658_ENST00000377626.3_Missense_Mutation_p.S638Y|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S638Y(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATGGGCAAAAGACCTTCCACA	0.408																																					p.S638Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1913A	9						.						65.0	71.0	69.0					9																	40773362		2177	4250	6427	40763362	SO:0001583	missense	26149	exon5			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1913C>A	9.37:g.40773362G>T	ENSP00000473484:p.Ser638Tyr		40763362	NM_033160	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	g	12.82	2.053321	0.36181	.	.	ENSG00000196409	ENST00000377626	T	0.36520	1.25	2.51	-0.725	0.11174	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48187	0.1486	M	0.70903	2.155	0.09310	N	1	D	0.76494	0.999	P	0.62740	0.906	T	0.33904	-0.9850	9	0.62326	D	0.03	.	3.7554	0.08584	0.2807:0.41:0.3093:0.0	.	638	Q5TYW1	ZN658_HUMAN	Y	638	ENSP00000366853:S638Y	ENSP00000366853:S638Y	S	-	2	0	ZNF658	40763362	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	-0.366000	0.07563	-0.012000	0.14223	0.518000	0.50308	TCT		0.408	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
PIP5K1B	8395	broad.mit.edu	37	9	71509489	71509489	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:71509489G>A	ENST00000265382.3	+	8	1011	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.E236K	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	236	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.E236K(1)		breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGACATGCACGAAGGGTTGTA	0.423																																					p.E236K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G706A	9						.						98.0	88.0	92.0					9																	71509489		2203	4300	6503	70699309	SO:0001583	missense	8395	exon8			U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.706G>A	9.37:g.71509489G>A	ENSP00000265382:p.Glu236Lys		70699309	NM_003558	A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711268	0.68730	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.35236	1.32;1.32	5.82	5.82	0.92795	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.131911	0.64402	D	0.000002	T	0.36552	0.0971	L	0.50333	1.59	0.49130	D	0.999754	B	0.32717	0.381	B	0.25884	0.064	T	0.19877	-1.0292	10	0.66056	D	0.02	-15.2404	20.1142	0.97922	0.0:0.0:1.0:0.0	.	236	O14986	PI51B_HUMAN	K	236;236;236;183	ENSP00000438082:E236K;ENSP00000265382:E236K	ENSP00000265382:E236K	E	+	1	0	PIP5K1B	70699309	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	6.580000	0.74040	2.765000	0.95021	0.650000	0.86243	GAA		0.423	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558	
TRPM3	80036	broad.mit.edu	37	9	73213485	73213485	+	Silent	SNP	G	G	A	rs145029936		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:73213485G>A	ENST00000377111.2	-	20	3105	c.2862C>T	c.(2860-2862)gtC>gtT	p.V954V	TRPM3_ENST00000396285.1_Silent_p.V801V|TRPM3_ENST00000423814.3_Silent_p.V981V|TRPM3_ENST00000396280.5_Silent_p.V803V|TRPM3_ENST00000396292.4_Silent_p.V826V|TRPM3_ENST00000377106.1_Silent_p.V826V|TRPM3_ENST00000377110.3_Silent_p.V954V|TRPM3_ENST00000408909.2_Silent_p.V813V|TRPM3_ENST00000360823.2_Silent_p.V816V|TRPM3_ENST00000377105.1_Silent_p.V813V|TRPM3_ENST00000358082.3_Silent_p.V816V|TRPM3_ENST00000357533.2_Silent_p.V958V	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	979					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.V958V(2)|p.V826V(2)|p.V954V(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGATCATTCCGACAGAAAACA	0.498																																					p.V954V												.	.	5	Substitution - coding silent(5)	lung(3)|large_intestine(2)	c.C2862T	9						.	G	,,,,,,	0,4406		0,0,2203	145.0	124.0	131.0		2862,2403,2439,2373,2409,2478,2448	-9.9	0.3	9	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPM3	NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3	,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	954/1708,801/1555,813/1567,791/1545,803/1557,826/1580,816/1570	73213485	1,13005	2203	4300	6503	72403305	SO:0001819	synonymous_variant	80036	exon20			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2862C>T	9.37:g.73213485G>A			72403305	NM_001007471	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	G	5.194	0.221291	0.09863	0.0	1.16E-4	ENSG00000083067	ENST00000396280	.	.	.	4.96	-9.92	0.00455	.	.	.	.	.	T	0.49355	0.1552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60403	-0.7270	4	.	.	.	-19.1567	10.474	0.44655	0.3731:0.4175:0.2094:0.0	.	.	.	.	W	803	.	.	R	-	1	2	TRPM3	72403305	0.000000	0.05858	0.309000	0.25155	0.731000	0.41821	-5.981000	0.00087	-2.061000	0.00892	-1.189000	0.01698	CGG		0.498	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
TMEM2	23670	broad.mit.edu	37	9	74360184	74360184	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:74360184C>T	ENST00000377044.4	-	4	1323	c.784G>A	c.(784-786)Gac>Aac	p.D262N	TMEM2_ENST00000377066.5_Missense_Mutation_p.D262N	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	262					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D262N(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CGGGAAAAGTCCTTTTCAAAG	0.502																																					p.D262N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784A	9						.						64.0	63.0	63.0					9																	74360184		2203	4300	6503	73550004	SO:0001583	missense	23670	exon4				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.784G>A	9.37:g.74360184C>T	ENSP00000366243:p.Asp262Asn		73550004	NM_013390	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708647	0.30322	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.72051	-0.62;-0.55	6.03	-2.29	0.06805	.	0.695370	0.14765	N	0.299742	T	0.32734	0.0839	N	0.02960	-0.455	0.45172	D	0.99818	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16660	-1.0395	10	0.09843	T	0.71	.	1.7381	0.02946	0.1686:0.2888:0.1306:0.412	.	262;262	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	N	262	ENSP00000366243:D262N;ENSP00000366266:D262N	ENSP00000366243:D262N	D	-	1	0	TMEM2	73550004	0.980000	0.34600	0.941000	0.38009	0.958000	0.62258	0.386000	0.20702	-0.066000	0.12998	-0.150000	0.13652	GAC		0.502	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
RORB	6096	broad.mit.edu	37	9	77249591	77249591	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:77249591C>G	ENST00000396204.2	+	3	171	c.171C>G	c.(169-171)tgC>tgG	p.C57W	RORB_ENST00000376896.3_Missense_Mutation_p.C46W			Q92753	RORB_HUMAN	RAR-related orphan receptor B	57					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.C46W(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	CTTATTCCTGCCCAAGGCAGA	0.453																																					p.C46W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C138G	9						.						64.0	62.0	63.0					9																	77249591		2203	4300	6503	76439411	SO:0001583	missense	6096	exon3			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.171C>G	9.37:g.77249591C>G	ENSP00000379507:p.Cys57Trp		76439411	NM_006914	Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37		.	.	.	.	.	.	.	.	.	.	C	18.79	3.698438	0.68386	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.99176	-5.52;-5.52	5.82	5.82	0.92795	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.039483	0.85682	D	0.000000	D	0.99654	0.9872	H	0.99464	4.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97440	1.0021	10	0.87932	D	0	.	15.2063	0.73180	0.0:0.9312:0.0:0.0688	.	57;46	Q92753;Q58EY0	RORB_HUMAN;.	W	46;57	ENSP00000366093:C46W;ENSP00000379507:C57W	ENSP00000366093:C46W	C	+	3	2	RORB	76439411	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.160000	0.42348	2.752000	0.94435	0.655000	0.94253	TGC		0.453	RORB-201	KNOWN	basic	protein_coding	protein_coding			
RORB	6096	broad.mit.edu	37	9	77282783	77282783	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:77282783C>T	ENST00000396204.2	+	8	1110	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	RORB_ENST00000376896.3_Silent_p.I359I			Q92753	RORB_HUMAN	RAR-related orphan receptor B	370	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.I359I(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AGGAGGAGATCGCTTTGTTCT	0.383																																					p.I359I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1077T	9						.						207.0	181.0	190.0					9																	77282783		2203	4300	6503	76472603	SO:0001819	synonymous_variant	6096	exon8			Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1110C>T	9.37:g.77282783C>T			76472603	NM_006914	Q8WX73	Silent	SNP	ENST00000396204.2	37																																																																																					0.383	RORB-201	KNOWN	basic	protein_coding	protein_coding			
TRPM6	140803	broad.mit.edu	37	9	77354349	77354349	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:77354349C>A	ENST00000360774.1	-	35	5741	c.5504G>T	c.(5503-5505)aGa>aTa	p.R1835I	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1830I|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1839I|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1839I|TRPM6_ENST00000376871.3_Missense_Mutation_p.R672I|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1830I|TRPM6_ENST00000376872.3_Missense_Mutation_p.R790I	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1835	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R1835I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGAGCAGCTCTTTGTTGTTG	0.378																																					p.R1830I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5489T	9						.						315.0	281.0	293.0					9																	77354349		2203	4300	6503	76544169	SO:0001583	missense	140803	exon35			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5504G>T	9.37:g.77354349C>A	ENSP00000354006:p.Arg1835Ile		76544169	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124476	0.94429	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34;3.34	5.81	5.81	0.92471	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;1.0;1.0;1.0;0.999;1.0	T	0.00152	-1.1983	10	0.87932	D	0	.	20.0795	0.97766	0.0:1.0:0.0:0.0	.	382;668;786;1835;1830;1830	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	I	1835;1839;790;672;1830;1830;381;1839	ENSP00000354006:R1835I;ENSP00000407341:R1839I;ENSP00000366068:R790I;ENSP00000366067:R672I;ENSP00000396672:R1830I;ENSP00000354962:R1830I;ENSP00000366060:R1839I	ENSP00000354006:R1835I	R	-	2	0	TRPM6	76544169	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.526000	0.67116	2.747000	0.94245	0.650000	0.86243	AGA		0.378	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	broad.mit.edu	37	9	77377865	77377865	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:77377865C>A	ENST00000360774.1	-	26	3959	c.3722G>T	c.(3721-3723)aGa>aTa	p.R1241I	TRPM6_ENST00000361255.3_Missense_Mutation_p.R1236I|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1241I|TRPM6_ENST00000451710.3_Missense_Mutation_p.R1241I|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1236I|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1241					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R1241I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGAATGCTTTCTCTTGGCCAG	0.507																																					p.R1236I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3707T	9						.						103.0	102.0	103.0					9																	77377865		2203	4300	6503	76567685	SO:0001583	missense	140803	exon26			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3722G>T	9.37:g.77377865C>A	ENSP00000354006:p.Arg1241Ile		76567685	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105705	0.56291	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.95	5.04	0.67666	.	0.385921	0.31438	N	0.007644	T	0.14830	0.0358	L	0.36672	1.1	0.18873	N	0.999988	P;P;P	0.38767	0.514;0.523;0.646	B;P;B	0.46419	0.151;0.516;0.29	T	0.14476	-1.0471	10	0.87932	D	0	.	5.425	0.16421	0.0:0.4599:0.3267:0.2134	.	1241;1236;1236	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	I	1241;1241;1236;1236;1241;904;904	ENSP00000354006:R1241I;ENSP00000407341:R1241I;ENSP00000396672:R1236I;ENSP00000354962:R1236I;ENSP00000366060:R1241I	ENSP00000309693:R904I	R	-	2	0	TRPM6	76567685	0.943000	0.32029	0.500000	0.27589	0.877000	0.50540	1.474000	0.35398	2.824000	0.97209	0.655000	0.94253	AGA		0.507	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	broad.mit.edu	37	9	77411736	77411736	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:77411736A>G	ENST00000360774.1	-	18	2549	c.2312T>C	c.(2311-2313)gTt>gCt	p.V771A	TRPM6_ENST00000361255.3_Missense_Mutation_p.V766A|TRPM6_ENST00000376864.4_Missense_Mutation_p.V771A|TRPM6_ENST00000451710.3_Missense_Mutation_p.V771A|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.V766A|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	771					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V771A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGACTGGGGAACATGTGACAT	0.368																																					p.V766A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2297C	9						.						138.0	130.0	133.0					9																	77411736		2203	4300	6503	76601556	SO:0001583	missense	140803	exon18			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2312T>C	9.37:g.77411736A>G	ENSP00000354006:p.Val771Ala		76601556	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816634	0.90790	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01	5.67	5.67	0.87782	.	0.114289	0.64402	D	0.000015	T	0.26195	0.0639	M	0.65975	2.015	0.52501	D	0.999957	P;D;P	0.54964	0.835;0.969;0.835	B;P;B	0.54889	0.356;0.763;0.356	T	0.00728	-1.1591	10	0.72032	D	0.01	.	15.9173	0.79531	1.0:0.0:0.0:0.0	.	434;771;766	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	A	771;771;766;766;771;434;434	ENSP00000354006:V771A;ENSP00000407341:V771A;ENSP00000396672:V766A;ENSP00000354962:V766A;ENSP00000366060:V771A	ENSP00000309693:V434A	V	-	2	0	TRPM6	76601556	0.984000	0.35163	0.846000	0.33378	0.972000	0.66771	9.339000	0.96797	2.170000	0.68504	0.533000	0.62120	GTT		0.368	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	broad.mit.edu	37	9	77416994	77416994	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:77416994T>C	ENST00000360774.1	-	16	2066	c.1829A>G	c.(1828-1830)gAc>gGc	p.D610G	TRPM6_ENST00000361255.3_Missense_Mutation_p.D605G|TRPM6_ENST00000376864.4_Missense_Mutation_p.D610G|TRPM6_ENST00000451710.3_Missense_Mutation_p.D610G|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.D605G|RN7SKP47_ENST00000365347.1_RNA|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	610					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D610G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AACCAGCAGGTCATTGTAAGG	0.448																																					p.D605G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1814G	9						.						117.0	94.0	101.0					9																	77416994		2203	4300	6503	76606814	SO:0001583	missense	140803	exon16			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1829A>G	9.37:g.77416994T>C	ENSP00000354006:p.Asp610Gly		76606814	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370661	0.82573	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.83193	0.5201	M	0.85945	2.785	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.76071	0.987;0.958	D	0.86378	0.1727	10	0.87932	D	0	.	15.2109	0.73222	0.0:0.0:0.0:1.0	.	610;605	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	G	610;610;605;605;610;273;273	ENSP00000354006:D610G;ENSP00000407341:D610G;ENSP00000396672:D605G;ENSP00000354962:D605G;ENSP00000366060:D610G	ENSP00000309693:D273G	D	-	2	0	TRPM6	76606814	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.993000	0.88291	1.992000	0.58205	0.477000	0.44152	GAC		0.448	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
TRPM6	140803	broad.mit.edu	37	9	77435336	77435336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:77435336G>A	ENST00000360774.1	-	9	1255	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.R335*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.R340*|TRPM6_ENST00000451710.3_Nonsense_Mutation_p.R340*|TRPM6_ENST00000376871.3_Nonsense_Mutation_p.R340*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.R335*|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376872.3_Nonsense_Mutation_p.R340*	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	340					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R340*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACCTGAGGTCGCAGCATCCTG	0.448																																					p.R335X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1003T	9						.						92.0	88.0	89.0					9																	77435336		2203	4300	6503	76625156	SO:0001587	stop_gained	140803	exon9			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1018C>T	9.37:g.77435336G>A	ENSP00000354006:p.Arg340*		76625156	NM_001177310	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Nonsense_Mutation	SNP	ENST00000360774.1	37	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945762	0.53079	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	.	.	.	5.37	3.53	0.40419	.	0.370519	0.34046	N	0.004310	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	4.7623	0.13113	0.2172:0.0:0.5339:0.2489	.	.	.	.	X	340;340;340;340;335;335;340;3;3	.	ENSP00000309693:R3X	R	-	1	2	TRPM6	76625156	0.006000	0.16342	0.493000	0.27502	0.014000	0.08584	1.426000	0.34870	0.634000	0.30469	0.655000	0.94253	CGA		0.448	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
PCSK5	5125	broad.mit.edu	37	9	78711018	78711018	+	Splice_Site	SNP	C	C	T	rs191932411		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:78711018C>T	ENST00000545128.1	+	8	1645	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	PCSK5_ENST00000376752.4_Splice_Site_p.I369I|PCSK5_ENST00000376767.3_Splice_Site_p.I369I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	369	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.I369I(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATAAGAAAATCGTACGTGACA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19846	0.0		0.001	False		,,,				2504	0.0				p.I369I												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C1107T	9						.	C	,	1,4405	2.1+/-5.4	0,1,2202	78.0	63.0	68.0		1107,1107	-1.2	1.0	9		68	0,8600		0,0,4300	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	PCSK5	NM_001190482.1,NM_006200.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	369/1861,369/914	78711018	1,13005	2203	4300	6503	77900838	SO:0001630	splice_region_variant	5125	exon8				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1107+1C>T	9.37:g.78711018C>T			77900838	NM_001190482	F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	CCDS55320.1																																																																																				0.433	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Silent
PRUNE2	158471	broad.mit.edu	37	9	79461486	79461486	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:79461486C>T	ENST00000376718.3	-	4	576	c.453G>A	c.(451-453)gaG>gaA	p.E151E	PRUNE2_ENST00000376713.3_Silent_p.E151E|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	151					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.E151E(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTGGAGAATCTCCTTTAGCA	0.478																																					p.E151E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G453A	9						.						92.0	90.0	91.0					9																	79461486		2203	4300	6503	78651306	SO:0001819	synonymous_variant	158471	exon4			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.453G>A	9.37:g.79461486C>T			78651306	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1																																																																																				0.478	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
VPS13A	23230	broad.mit.edu	37	9	79852934	79852934	+	Missense_Mutation	SNP	G	G	T	rs535249775		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:79852934G>T	ENST00000360280.3	+	18	1872	c.1612G>T	c.(1612-1614)Gat>Tat	p.D538Y	VPS13A_ENST00000376636.3_Missense_Mutation_p.D538Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.D538Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D538Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	538					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.D538Y(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AACTAAAATAGATTCATTTCA	0.279													G|||	1	0.000199681	0.0	0.0	5008	,	,		15068	0.0		0.0	False		,,,				2504	0.001				p.D538Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1612T	9						.						46.0	50.0	49.0					9																	79852934		2202	4296	6498	79042754	SO:0001583	missense	23230	exon18			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1612G>T	9.37:g.79852934G>T	ENSP00000353422:p.Asp538Tyr		79042754	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.097046	0.56075	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.74	5.74	0.90152	.	0.313088	0.34484	N	0.003937	T	0.63721	0.2535	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.71674	0.993;0.993;0.998;0.998	P;P;D;D	0.68353	0.878;0.77;0.957;0.957	T	0.65344	-0.6191	10	0.62326	D	0.03	.	10.9282	0.47203	0.1133:0.0:0.8867:0.0	.	538;538;538;538	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Y	538	ENSP00000365821:D538Y;ENSP00000365823:D538Y;ENSP00000353422:D538Y;ENSP00000349985:D538Y	ENSP00000349985:D538Y	D	+	1	0	VPS13A	79042754	0.923000	0.31300	0.998000	0.56505	0.978000	0.69477	2.034000	0.41145	2.714000	0.92807	0.585000	0.79938	GAT		0.279	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79910639	79910639	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:79910639T>C	ENST00000360280.3	+	33	3949	c.3689T>C	c.(3688-3690)tTt>tCt	p.F1230S	VPS13A_ENST00000376636.3_Missense_Mutation_p.F1191S|VPS13A_ENST00000376634.4_Missense_Mutation_p.F1230S|VPS13A_ENST00000357409.5_Missense_Mutation_p.F1230S|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1230					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.F1230S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAAAATGTTTTTGTTGCTGAT	0.398																																					p.F1191S												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3572C	9						.						129.0	122.0	125.0					9																	79910639		2203	4300	6503	79100459	SO:0001583	missense	23230	exon32			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3689T>C	9.37:g.79910639T>C	ENSP00000353422:p.Phe1230Ser		79100459	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.716720	0.68844	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.15	5.15	0.70609	.	0.376195	0.26692	N	0.022988	T	0.15349	0.0370	L	0.36672	1.1	0.80722	D	1	B;B;P;P	0.40250	0.137;0.393;0.709;0.709	B;B;B;B	0.41236	0.225;0.143;0.351;0.351	T	0.01739	-1.1284	10	0.87932	D	0	.	15.2764	0.73745	0.0:0.0:0.0:1.0	.	1191;1230;1230;1230	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	1230;1191;1230;1230	ENSP00000365821:F1230S;ENSP00000365823:F1191S;ENSP00000353422:F1230S;ENSP00000349985:F1230S	ENSP00000349985:F1230S	F	+	2	0	VPS13A	79100459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.543000	0.82106	2.076000	0.62316	0.460000	0.39030	TTT		0.398	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	broad.mit.edu	37	9	79975531	79975531	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:79975531G>A	ENST00000360280.3	+	59	8445	c.8185G>A	c.(8185-8187)Gaa>Aaa	p.E2729K	VPS13A_ENST00000376636.3_Missense_Mutation_p.E2690K|VPS13A_ENST00000376634.4_Missense_Mutation_p.E2729K|VPS13A_ENST00000357409.5_Missense_Mutation_p.E2729K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2729					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.E2729K(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTATGACAGAAGCTGAGGT	0.294																																					p.E2690K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G8068A	9						.						120.0	128.0	126.0					9																	79975531		2203	4294	6497	79165351	SO:0001583	missense	23230	exon58			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8185G>A	9.37:g.79975531G>A	ENSP00000353422:p.Glu2729Lys		79165351	NM_001018037	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998875	0.35226	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.45668	1.07;0.89;0.98;1.06	5.31	1.08	0.20341	.	0.771673	0.12442	N	0.468581	T	0.16471	0.0396	N	0.02916	-0.46	0.80722	D	1	B;B;B;B	0.09022	0.0;0.0;0.002;0.002	B;B;B;B	0.09377	0.001;0.001;0.004;0.004	T	0.11036	-1.0604	9	.	.	.	.	7.7443	0.28860	0.1744:0.4836:0.342:0.0	.	2690;2729;2729;2729	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	K	2729;2690;2729;2729	ENSP00000365821:E2729K;ENSP00000365823:E2690K;ENSP00000353422:E2729K;ENSP00000349985:E2729K	.	E	+	1	0	VPS13A	79165351	.	.	0.446000	0.26920	0.995000	0.86356	.	.	0.198000	0.20407	0.650000	0.86243	GAA		0.294	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
CEP78	84131	broad.mit.edu	37	9	80866888	80866888	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:80866888G>A	ENST00000424347.2	+	9	1423	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	CEP78_ENST00000376597.4_Silent_p.A379A|CEP78_ENST00000376598.2_Silent_p.A378A|CEP78_ENST00000415759.2_Silent_p.A379A|CEP78_ENST00000277082.5_Silent_p.A378A			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	378					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AATATTATGCGCCCGCACCTC	0.423																																					p.A379A												.	.	0			c.G1137A	9						.						45.0	47.0	47.0					9																	80866888		1884	4123	6007	80056708	SO:0001819	synonymous_variant	84131	exon9			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1134G>A	9.37:g.80866888G>A			80056708	NM_001098802	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Silent	SNP	ENST00000424347.2	37																																																																																					0.423	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	
CEP78	84131	broad.mit.edu	37	9	80881583	80881583	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:80881583A>G	ENST00000424347.2	+	15	2312	c.2023A>G	c.(2023-2025)Aat>Gat	p.N675D	CEP78_ENST00000376597.4_Missense_Mutation_p.N692D|CEP78_ENST00000415759.2_Missense_Mutation_p.N676D|CEP78_ENST00000277082.5_Missense_Mutation_p.N675D|CEP78_ENST00000376598.2_Missense_Mutation_p.N691D			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	675					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.N675D(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GTTGTCCAGAAATAGCAGATC	0.418																																					p.N692D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2074G	9						.						56.0	51.0	52.0					9																	80881583		1864	4111	5975	80071403	SO:0001583	missense	84131	exon16			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.2023A>G	9.37:g.80881583A>G	ENSP00000411284:p.Asn675Asp		80071403	NM_001098802	A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37		.	.	.	.	.	.	.	.	.	.	A	12.99	2.102254	0.37145	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.26223	1.76;1.95;1.75;1.76;1.75	5.97	0.849	0.18972	.	0.708651	0.13714	N	0.367906	T	0.17831	0.0428	L	0.51422	1.61	0.09310	N	0.999999	B;B;B	0.22211	0.039;0.066;0.039	B;B;B	0.21708	0.016;0.036;0.016	T	0.29305	-1.0016	10	0.18710	T	0.47	-1.719	3.0282	0.06098	0.5032:0.2912:0.0737:0.1319	.	676;692;675	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	D	675;691;676;692;675;691	ENSP00000411284:N675D;ENSP00000399286:N676D;ENSP00000365782:N692D;ENSP00000277082:N675D;ENSP00000365783:N691D	ENSP00000277082:N675D	N	+	1	0	CEP78	80071403	0.988000	0.35896	0.166000	0.22797	0.722000	0.41435	1.421000	0.34815	0.115000	0.18071	0.533000	0.62120	AAT		0.418	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991	
SPATA31D1	389763	broad.mit.edu	37	9	84605897	84605897	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:84605897C>T	ENST00000344803.2	+	4	559	c.512C>T	c.(511-513)aCt>aTt	p.T171I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	171					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.T171I(2)									TCATCGTTCACTCTGGCTTCC	0.567																																					p.T171I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C512T	9						.						124.0	124.0	124.0					9																	84605897		1999	4166	6165	83795717	SO:0001583	missense	389763	exon4				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.512C>T	9.37:g.84605897C>T	ENSP00000341988:p.Thr171Ile		83795717	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989387	0.35131	.	.	ENSG00000214929	ENST00000344803	T	0.06294	3.32	2.85	-5.7	0.02421	.	1.484760	0.04609	N	0.399901	T	0.05502	0.0145	L	0.54323	1.7	0.09310	N	1	B	0.33044	0.395	B	0.29267	0.1	T	0.26815	-1.0092	10	0.62326	D	0.03	-1.1952	0.4259	0.00463	0.2919:0.2026:0.2892:0.2163	.	171	Q6ZQQ2	F75D1_HUMAN	I	171	ENSP00000341988:T171I	ENSP00000341988:T171I	T	+	2	0	FAM75D1	83795717	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.076000	0.14712	-1.389000	0.02090	-0.224000	0.12420	ACT		0.567	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
HNRNPK	3190	broad.mit.edu	37	9	86587059	86587059	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:86587059C>T	ENST00000376264.2	-	11	949	c.691G>A	c.(691-693)Gat>Aat	p.D231N	HNRNPK_ENST00000360384.5_Missense_Mutation_p.D231N|HNRNPK_ENST00000376281.4_Missense_Mutation_p.D231N|HNRNPK_ENST00000351839.3_Missense_Mutation_p.D231N|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376263.3_Missense_Mutation_p.D231N|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	231	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.D231N(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TAGGTTTCATCGTAAAAATTG	0.438																																					p.D231N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	9						.						57.0	57.0	57.0					9																	86587059		2203	4300	6503	85776879	SO:0001583	missense	3190	exon11				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.691G>A	9.37:g.86587059C>T	ENSP00000365440:p.Asp231Asn		85776879	NM_002140	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969470	0.74246	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.54479	0.57;0.58;0.57;0.58;0.58	5.04	5.04	0.67666	.	0.103985	0.64402	D	0.000003	T	0.53753	0.1816	M	0.73598	2.24	0.80722	D	1	B;B;B;B;B;B;B;B	0.29955	0.039;0.095;0.118;0.192;0.263;0.153;0.118;0.171	B;B;B;B;B;B;B;B	0.28709	0.005;0.008;0.011;0.011;0.093;0.017;0.012;0.043	T	0.52953	-0.8506	10	0.24483	T	0.36	-6.6859	16.9459	0.86230	0.0:1.0:0.0:0.0	.	207;196;231;226;231;207;231;231	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	N	231;231;231;231;231;196;231;226;207;162	ENSP00000365458:D231N;ENSP00000365440:D231N;ENSP00000365439:D231N;ENSP00000317788:D231N;ENSP00000353552:D231N	ENSP00000317788:D231N	D	-	1	0	HNRNPK	85776879	1.000000	0.71417	0.984000	0.44739	0.946000	0.59487	7.332000	0.79203	2.486000	0.83907	0.655000	0.94253	GAT		0.438	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2		
NTRK2	4915	broad.mit.edu	37	9	87636192	87636192	+	Missense_Mutation	SNP	G	G	A	rs201491838		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:87636192G>A	ENST00000323115.4	+	17	2662	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q	NTRK2_ENST00000277120.3_Missense_Mutation_p.R786Q|NTRK2_ENST00000376213.1_Missense_Mutation_p.R770Q|NTRK2_ENST00000376214.1_Missense_Mutation_p.R786Q			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)	p.R786Q(2)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	ACTCAGGGCCGAGTCCTGCAG	0.537										TSP Lung(25;0.17)																											p.R786Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2357A	9						.						48.0	49.0	48.0					9																	87636192		2203	4300	6503	86826012	SO:0001583	missense	4915	exon21			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2309G>A	9.37:g.87636192G>A	ENSP00000314586:p.Arg770Gln		86826012	NM_006180	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	G	37	6.260340	0.97421	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	L	0.28504	0.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88332	0.2969	10	0.72032	D	0.01	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	770;786	Q16620;Q16620-4	NTRK2_HUMAN;.	Q	786;770;786;770	ENSP00000365387:R786Q;ENSP00000365386:R770Q;ENSP00000277120:R786Q;ENSP00000314586:R770Q	ENSP00000277120:R786Q	R	+	2	0	NTRK2	86826012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.912000	0.87465	2.725000	0.93324	0.655000	0.94253	CGA		0.537	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1		
DAPK1	1612	broad.mit.edu	37	9	90262264	90262264	+	Silent	SNP	C	C	T	rs55637131		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:90262264C>T	ENST00000408954.3	+	14	1610	c.1275C>T	c.(1273-1275)gtC>gtT	p.V425V	DAPK1_ENST00000472284.1_Silent_p.V425V|DAPK1_ENST00000358077.5_Silent_p.V425V|DAPK1_ENST00000491893.1_Silent_p.V425V|DAPK1_ENST00000469640.2_Silent_p.V425V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	425					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V425V(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ATGGCCACGTCGATACCTTGA	0.507									Chronic Lymphocytic Leukemia, Familial Clustering of				C|||	1	0.000199681	0.0	0.0	5008	,	,		18911	0.0		0.0	False		,,,				2504	0.001				p.V425V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1275T	9						.						123.0	127.0	125.0					9																	90262264		2016	4168	6184	89452084	SO:0001819	synonymous_variant	1612	exon14	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1275C>T	9.37:g.90262264C>T			89452084	NM_004938	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																				0.507	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
CTSL	1514	broad.mit.edu	37	9	90345976	90345976	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:90345976G>T	ENST00000343150.5	+	8	1846	c.956G>T	c.(955-957)aGa>aTa	p.R319I	CTSL_ENST00000340342.6_Missense_Mutation_p.R319I|CTSL_ENST00000495822.1_3'UTR			P07711	CATL1_HUMAN	cathepsin L	319					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)	p.R319I(1)									AAAGACCGGAGAAACCATTGT	0.522																																					p.R319I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G956T	9						.						108.0	86.0	93.0					9																	90345976		2203	4300	6503	89535796	SO:0001583	missense	1514	exon8			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.956G>T	9.37:g.90345976G>T	ENSP00000345344:p.Arg319Ile		89535796	NM_145918	Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	9.014	0.983144	0.18889	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	T;T	0.22743	1.94;1.94	4.24	1.61	0.23674	Peptidase C1A, papain C-terminal (2);	1.056940	0.07263	N	0.867876	T	0.20007	0.0481	L	0.43152	1.355	0.29803	N	0.83229	B	0.15473	0.013	B	0.10450	0.005	T	0.29305	-1.0016	10	0.72032	D	0.01	.	8.4868	0.33076	0.8271:0.0:0.1729:0.0	.	319	P07711	CATL1_HUMAN	I	319	ENSP00000345344:R319I;ENSP00000365061:R319I	ENSP00000365061:R319I	R	+	2	0	CTSL1	89535796	0.005000	0.15991	0.028000	0.17463	0.097000	0.18754	2.267000	0.43329	0.656000	0.30886	-0.423000	0.05987	AGA		0.522	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912	
RP13-60M5.2	0	broad.mit.edu	37	9	91262351	91262351	+	lincRNA	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:91262351G>T	ENST00000418343.2	-	0	400																											ACATGGAGAAGATGACACGCT	0.438																																					p.L98I												.	.	0			c.C292A	9						.						72.0	74.0	73.0					9																	91262351		1937	4151	6088	90452171			286238	exon2																															9.37:g.91262351G>T			90452171	NM_001100111		Missense_Mutation	SNP	ENST00000418343.2	37																																																																																					0.438	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2		
S1PR3	1903	broad.mit.edu	37	9	91616472	91616472	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:91616472C>T	ENST00000375846.3	+	1	5052	c.357C>T	c.(355-357)ttC>ttT	p.F119F	S1PR3_ENST00000358157.2_Silent_p.F119F			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	119					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.F119F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GCAGTATGTTCGTGGCCCTTG	0.572											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F119F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C357T	9						.						91.0	82.0	85.0					9																	91616472		2203	4300	6503	90806292	SO:0001819	synonymous_variant	1903	exon2			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.357C>T	9.37:g.91616472C>T		1283	90806292	NM_005226	Q5SQD8|Q7Z5I2	Silent	SNP	ENST00000375846.3	37	CCDS6680.1																																																																																				0.572	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226	
NFIL3	4783	broad.mit.edu	37	9	94172193	94172193	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:94172193G>A	ENST00000297689.3	-	2	1218	c.824C>T	c.(823-825)tCg>tTg	p.S275L		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	275					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S275L(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						ATCAGTTTCCGACGTTCTCGG	0.502																																					p.S275L	Esophageal Squamous(152;732 1832 10053 26981 51762)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C824T	9						.						135.0	136.0	136.0					9																	94172193		2203	4300	6503	93212014	SO:0001583	missense	4783	exon2			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.824C>T	9.37:g.94172193G>A	ENSP00000297689:p.Ser275Leu		93212014	NM_005384	B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	ENST00000297689.3	37	CCDS6690.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355325	0.41700	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	.	.	.	4.97	4.97	0.65823	Vertebrate interleukin-3 regulated transcription factor (1);	0.000000	0.64402	D	0.000008	T	0.61311	0.2337	M	0.71581	2.175	0.80722	D	1	P	0.35411	0.5	B	0.26094	0.066	T	0.68853	-0.5299	9	0.87932	D	0	-10.3787	18.4124	0.90557	0.0:0.0:1.0:0.0	.	275	Q16649	NFIL3_HUMAN	L	275	.	ENSP00000297689:S275L	S	-	2	0	NFIL3	93212014	1.000000	0.71417	0.061000	0.19648	0.262000	0.26303	8.990000	0.93510	2.594000	0.87642	0.561000	0.74099	TCG		0.502	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384	
ROR2	4920	broad.mit.edu	37	9	94486762	94486762	+	Missense_Mutation	SNP	C	C	T	rs55651110		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:94486762C>T	ENST00000375708.3	-	9	2212	c.2014G>A	c.(2014-2016)Gac>Aac	p.D672N	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.D532N	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in dbSNP:rs55651110). {ECO:0000269|PubMed:17344846}.		cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.D672N(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGTCTGAGTCGATGGAGAAC	0.582																																					p.D672N												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2014A	9						.	C	ASN/ASP	0,4406		0,0,2203	71.0	60.0	64.0		2014	4.9	0.9	9	dbSNP_129	64	1,8599	1.2+/-3.3	0,1,4299	no	missense	ROR2	NM_004560.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	672/944	94486762	1,13005	2203	4300	6503	93526583	SO:0001583	missense	4920	exon9			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2014G>A	9.37:g.94486762C>T	ENSP00000364860:p.Asp672Asn		93526583	NM_004560	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459951	0.63401	0.0	1.16E-4	ENSG00000169071	ENST00000375715;ENST00000375708	D;D	0.88975	-2.45;-2.45	4.86	4.86	0.63082	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000521	D	0.88768	0.6526	N	0.05487	-0.04	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.76575	0.988;0.592	D	0.91798	0.5449	10	0.87932	D	0	.	18.2087	0.89863	0.0:1.0:0.0:0.0	rs55651110	672;532	Q01974;B1APY4	ROR2_HUMAN;.	N	532;672	ENSP00000364867:D532N;ENSP00000364860:D672N	ENSP00000364860:D672N	D	-	1	0	ROR2	93526583	1.000000	0.71417	0.944000	0.38274	0.106000	0.19336	7.567000	0.82357	2.526000	0.85167	0.561000	0.74099	GAC		0.582	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1		
ECM2	1842	broad.mit.edu	37	9	95258609	95258609	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:95258609T>G	ENST00000344604.5	-	10	2237	c.2088A>C	c.(2086-2088)caA>caC	p.Q696H	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	696					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.Q696H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ACTTGATGTTTTGTGGTTTAA	0.289																																					p.Q696H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2088C	9						.						103.0	102.0	103.0					9																	95258609		2202	4296	6498	94298430	SO:0001583	missense	1842	exon10			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.2088A>C	9.37:g.95258609T>G	ENSP00000344758:p.Gln696His		94298430	NM_001393	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020392	0.75275	.	.	ENSG00000106823	ENST00000344604	T	0.58652	0.32	5.44	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.70659	-0.4811	10	0.72032	D	0.01	.	6.2962	0.21087	0.0:0.3378:0.0:0.6622	.	696;674	O94769;B4DK93	ECM2_HUMAN;.	H	696	ENSP00000344758:Q696H	ENSP00000344758:Q696H	Q	-	3	2	ECM2	94298430	1.000000	0.71417	0.948000	0.38648	0.995000	0.86356	1.525000	0.35953	0.954000	0.37851	0.533000	0.62120	CAA		0.289	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393	
BICD2	23299	broad.mit.edu	37	9	95481396	95481396	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:95481396C>T	ENST00000375512.3	-	5	1598	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	BICD2_ENST00000356884.6_Missense_Mutation_p.D511N	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	511					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.D511N(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCGGCGACGTCGCTCACCTTC	0.642																																					p.D511N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1531A	9						.						79.0	67.0	71.0					9																	95481396		2203	4300	6503	94521217	SO:0001583	missense	23299	exon5			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1531G>A	9.37:g.95481396C>T	ENSP00000364662:p.Asp511Asn		94521217	NM_015250	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839321	0.51057	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.42513	0.97;0.97	5.39	5.39	0.77823	.	0.177928	0.52532	D	0.000071	T	0.44393	0.1291	L	0.34521	1.04	0.53688	D	0.999976	D;D	0.57257	0.979;0.967	P;P	0.52031	0.561;0.688	T	0.11470	-1.0586	10	0.27082	T	0.32	-46.4049	17.0121	0.86409	0.0:1.0:0.0:0.0	.	511;511	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	N	511	ENSP00000349351:D511N;ENSP00000364662:D511N	ENSP00000349351:D511N	D	-	1	0	BICD2	94521217	0.999000	0.42202	0.857000	0.33713	0.514000	0.34195	3.878000	0.56130	2.707000	0.92482	0.561000	0.74099	GAC		0.642	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250	
BICD2	23299	broad.mit.edu	37	9	95485059	95485059	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:95485059C>T	ENST00000375512.3	-	3	552	c.485G>A	c.(484-486)cGc>cAc	p.R162H	BICD2_ENST00000356884.6_Missense_Mutation_p.R162H	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	162					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.R162H(2)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCCCGCAGGCGGCCACGCTG	0.582																																					p.R162H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G485A	9						.						91.0	80.0	84.0					9																	95485059		2203	4300	6503	94524880	SO:0001583	missense	23299	exon3			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.485G>A	9.37:g.95485059C>T	ENSP00000364662:p.Arg162His		94524880	NM_015250	O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439096	0.83885	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.53640	0.61;0.61	4.83	4.83	0.62350	.	0.129907	0.52532	D	0.000065	T	0.57388	0.2050	L	0.44542	1.39	0.58432	D	0.99999	D;D	0.65815	0.994;0.995	P;P	0.61070	0.814;0.883	T	0.56195	-0.8019	10	0.42905	T	0.14	-21.924	15.7894	0.78343	0.0:1.0:0.0:0.0	.	162;162	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	H	162	ENSP00000349351:R162H;ENSP00000364662:R162H	ENSP00000349351:R162H	R	-	2	0	BICD2	94524880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.840000	0.69402	2.402000	0.81655	0.561000	0.74099	CGC		0.582	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250	
ZNF484	83744	broad.mit.edu	37	9	95610026	95610026	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:95610026C>A	ENST00000375495.3	-	5	1191	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	ZNF484_ENST00000395506.3_Missense_Mutation_p.R350I|ZNF484_ENST00000332591.6_Missense_Mutation_p.R312I|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R312I	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R348I(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AGAATGAATTCTCTGGCATCT	0.373																																					p.R312I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G935T	9						.						59.0	61.0	60.0					9																	95610026		2202	4300	6502	94649847	SO:0001583	missense	83744	exon4			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.1043G>T	9.37:g.95610026C>A	ENSP00000364645:p.Arg348Ile		94649847	NM_001007101	B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	11.33	1.605766	0.28623	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	2.38	1.48	0.22813	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27765	0.0683	M	0.81942	2.565	0.37361	D	0.911225	D;P	0.53745	0.962;0.934	B;B	0.37091	0.241;0.241	T	0.35871	-0.9771	9	0.66056	D	0.02	.	4.4717	0.11715	0.0:0.6825:0.0:0.3175	.	350;348	B4DRI2;Q5JVG2	.;ZN484_HUMAN	I	312;350;348;312	ENSP00000378881:R312I;ENSP00000378882:R350I;ENSP00000364645:R348I;ENSP00000364646:R312I	ENSP00000364646:R312I	R	-	2	0	ZNF484	94649847	0.000000	0.05858	0.003000	0.11579	0.842000	0.47809	0.365000	0.20348	0.589000	0.29677	0.638000	0.83543	AGA		0.373	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861	
ZNF484	83744	broad.mit.edu	37	9	95610657	95610657	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:95610657G>A	ENST00000375495.3	-	5	560	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	ZNF484_ENST00000395506.3_Missense_Mutation_p.R140C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R102C	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R138C(2)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGACAACACGACTTAAAGGT	0.368																																					p.R102C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C304T	9						.						213.0	207.0	209.0					9																	95610657		2203	4300	6503	94650478	SO:0001583	missense	83744	exon4			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.412C>T	9.37:g.95610657G>A	ENSP00000364645:p.Arg138Cys		94650478	NM_001007101	B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	2.518	-0.311334	0.05422	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.35;3.37;3.23	2.94	2.03	0.26663	.	.	.	.	.	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	D;P	0.55172	0.97;0.947	B;B	0.40534	0.332;0.332	T	0.36601	-0.9741	9	0.62326	D	0.03	.	5.7179	0.17970	0.1486:0.0:0.8514:0.0	.	140;138	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	102;140;138;102	ENSP00000378881:R102C;ENSP00000378882:R140C;ENSP00000364645:R138C;ENSP00000364646:R102C	ENSP00000364646:R102C	R	-	1	0	ZNF484	94650478	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.546000	0.23284	0.806000	0.34183	0.643000	0.83706	CGT		0.368	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861	
PHF2	5253	broad.mit.edu	37	9	96425881	96425881	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:96425881A>C	ENST00000359246.4	+	14	2268	c.1901A>C	c.(1900-1902)aAg>aCg	p.K634T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	634	Lys-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K634T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAAGACAATAAGTTCTCTTTT	0.478																																					p.K634T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1901C	9						.						100.0	93.0	95.0					9																	96425881		2203	4300	6503	95465702	SO:0001583	missense	5253	exon14			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1901A>C	9.37:g.96425881A>C	ENSP00000352185:p.Lys634Thr		95465702	NM_005392	Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168563	0.38315	.	.	ENSG00000197724	ENST00000359246	T	0.24538	1.85	4.28	4.28	0.50868	.	0.229891	0.42964	D	0.000637	T	0.40522	0.1120	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.906	T	0.11421	-1.0588	10	0.17369	T	0.5	-23.119	13.6902	0.62542	1.0:0.0:0.0:0.0	.	52;634	Q8N359;O75151	.;PHF2_HUMAN	T	634	ENSP00000352185:K634T	ENSP00000352185:K634T	K	+	2	0	PHF2	95465702	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	4.319000	0.59197	1.683000	0.51011	0.260000	0.18958	AAG		0.478	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392	
NUTM2F	54754	broad.mit.edu	37	9	97084540	97084540	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:97084540C>T	ENST00000253262.4	-	3	805	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	NUTM2F_ENST00000341207.4_Missense_Mutation_p.R262Q|NUTM2F_ENST00000335456.7_Missense_Mutation_p.R262Q	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	262								p.R143Q(1)									CTGCCATTCCCGCATGGCCTG	0.627																																					p.R262Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G785A	9						.						63.0	74.0	70.0					9																	97084540		1425	2645	4070	96124361	SO:0001583	missense	54754	exon3				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.785G>A	9.37:g.97084540C>T	ENSP00000253262:p.Arg262Gln		96124361	NM_017561	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	ENST00000253262.4	37	CCDS47994.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.198778	0.01581	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.19938	2.11;2.11;2.11	1.2	-0.00199	0.14031	Nuclear Testis  protein, N-terminal (1);	0.442996	0.19174	N	0.120859	T	0.04588	0.0125	N	0.04508	-0.205	0.09310	N	1	P	0.34800	0.469	B	0.23150	0.044	T	0.33854	-0.9852	10	0.02654	T	1	.	2.9556	0.05875	0.0:0.3343:0.0:0.6657	.	262	A1L443	FA22F_HUMAN	Q	262	ENSP00000335067:R262Q;ENSP00000253262:R262Q;ENSP00000343865:R262Q	ENSP00000253262:R262Q	R	-	2	0	FAM22F	96124361	0.927000	0.31430	0.057000	0.19452	0.286000	0.27126	0.298000	0.19120	-0.001000	0.14495	-0.391000	0.06502	CGG		0.627	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561	
FBP2	8789	broad.mit.edu	37	9	97349616	97349616	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:97349616G>A	ENST00000375337.3	-	2	372	c.306C>T	c.(304-306)gaC>gaT	p.D102D		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	102					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TGATGATGGCGTCCTTATTCT	0.522																																					p.D102D												.	.	0			c.C306T	9						.						101.0	93.0	96.0					9																	97349616		2203	4300	6503	96389437	SO:0001819	synonymous_variant	8789	exon2			Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.306C>T	9.37:g.97349616G>A			96389437	NM_003837	Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	CCDS6711.1																																																																																				0.522	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837	
C9orf3	84909	broad.mit.edu	37	9	97844935	97844935	+	Missense_Mutation	SNP	G	G	A	rs559653559		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:97844935G>A	ENST00000375315.2	+	15	2398	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	C9orf3_ENST00000297979.5_Missense_Mutation_p.E701K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E162K|C9orf3_ENST00000433691.2_Missense_Mutation_p.E141K|MIR27B_ENST00000385129.1_RNA|MIR23B_ENST00000384832.1_RNA	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	800					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E800K(1)|p.E701K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TAGGTGCTTCGAGCGGACCAA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20118	0.001		0.0	False		,,,				2504	0.0				p.E701K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2101A	9						.						136.0	112.0	120.0					9																	97844935		2203	4300	6503	96884756	SO:0001583	missense	84909	exon14			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2398G>A	9.37:g.97844935G>A	ENSP00000364464:p.Glu800Lys		96884756	NM_032823	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.16|10.16	1.275141|1.275141	0.23307|0.23307	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000445181	T;T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99;0.99|.	5.33|5.33	-0.421|-0.421	0.12332|0.12332	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	0.349959|.	0.32918|.	N|.	0.005481|.	T|T	0.50017|0.50017	0.1591|0.1591	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	P;D;B;P|.	0.69078|.	0.743;0.997;0.315;0.68|.	B;P;B;B|.	0.55965|.	0.142;0.788;0.073;0.198|.	T|T	0.48670|0.48670	-0.9015|-0.9015	10|5	0.08837|.	T|.	0.75|.	-3.6491|-3.6491	11.9156|11.9156	0.52763|0.52763	0.0666:0.4752:0.4582:0.0|0.0666:0.4752:0.4582:0.0	.|.	141;162;800;701|.	B4DU39;B4DQU3;Q8N6M6;Q8N6M6-2|.	.;.;AMPO_HUMAN;.|.	K|Q	701;800;582;162;141;164|164	ENSP00000297979:E701K;ENSP00000364464:E800K;ENSP00000401854:E582K;ENSP00000411815:E162K;ENSP00000399365:E141K|.	ENSP00000297979:E701K|.	E|R	+|+	1|2	0|0	C9orf3|C9orf3	96884756|96884756	0.933000|0.933000	0.31639|0.31639	0.742000|0.742000	0.31022|0.31022	0.360000|0.360000	0.29518|0.29518	1.033000|1.033000	0.30191|0.30191	0.016000|0.016000	0.14998|0.14998	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.557	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823	
FANCC	2176	broad.mit.edu	37	9	97864100	97864100	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:97864100G>T	ENST00000289081.3	-	15	1820	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	FANCC_ENST00000375305.1_Silent_p.I522I	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	522					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)		p.I522I(1)		kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GAAAGCCAATGATCTCGTGAG	0.458			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.I522I		yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1566A	9						.						85.0	76.0	79.0					9																	97864100		2203	4300	6503	96903921	SO:0001819	synonymous_variant	2176	exon15	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	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.1566C>A	9.37:g.97864100G>T			96903921	NM_000136	B1ALR8	Silent	SNP	ENST00000289081.3	37	CCDS35071.1																																																																																				0.458	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136	
PTCH1	5727	broad.mit.edu	37	9	98231321	98231321	+	Silent	SNP	C	C	T	rs201544613	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:98231321C>T	ENST00000331920.6	-	14	2261	c.1962G>A	c.(1960-1962)acG>acA	p.T654T	PTCH1_ENST00000418258.1_Silent_p.T503T|PTCH1_ENST00000421141.1_Silent_p.T503T|PTCH1_ENST00000430669.2_Silent_p.T588T|PTCH1_ENST00000375274.2_Silent_p.T653T|PTCH1_ENST00000429896.2_Silent_p.T503T|PTCH1_ENST00000437951.1_Silent_p.T588T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	654					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.T653T(2)|p.T654T(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGGTAATCTGCGTTTCATGGG	0.597																																					p.T503T												.	.	4	Substitution - coding silent(4)	large_intestine(4)	c.G1509A	9						.	C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	160.0	144.0	149.0		1962,1764,1959,1509,1509,1509,1509	-9.4	0.3	9		149	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTCH1	NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1	,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	654/1448,588/1382,653/1447,503/1297,503/1297,503/1297,503/1297	98231321	1,13005	2203	4300	6503	97271142	SO:0001819	synonymous_variant	5727	exon14			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1962G>A	9.37:g.98231321C>T			97271142	NM_001083605	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.597	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
SLC35D2	11046	broad.mit.edu	37	9	99083606	99083606	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:99083606C>A	ENST00000253270.7	-	12	994	c.932G>T	c.(931-933)aGa>aTa	p.R311I	SLC35D2_ENST00000375259.4_Missense_Mutation_p.R223I	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	311					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)	p.R311I(1)		endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				AAAGGAATATCTCAAGCCCCC	0.418																																					p.R311I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G932T	9						.						90.0	85.0	87.0					9																	99083606		2203	4300	6503	98123427	SO:0001583	missense	11046	exon12			AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.932G>T	9.37:g.99083606C>A	ENSP00000253270:p.Arg311Ile		98123427	NM_007001	O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	37	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491158	0.26774	.	.	ENSG00000130958	ENST00000253270;ENST00000375259	T;T	0.61859	0.07;0.07	4.52	3.55	0.40652	Domain of unknown function DUF250 (1);	0.338915	0.30869	N	0.008712	T	0.41119	0.1145	N	0.08118	0	0.30561	N	0.76453	P;B	0.42248	0.774;0.004	P;B	0.47981	0.563;0.017	T	0.34650	-0.9820	10	0.28530	T	0.3	.	9.2592	0.37601	0.2152:0.7848:0.0:0.0	.	223;311	Q76EJ3-2;Q76EJ3	.;S35D2_HUMAN	I	311;223	ENSP00000253270:R311I;ENSP00000364408:R223I	ENSP00000253270:R311I	R	-	2	0	SLC35D2	98123427	1.000000	0.71417	0.999000	0.59377	0.778000	0.44026	1.890000	0.39728	2.497000	0.84241	0.491000	0.48974	AGA		0.418	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1		
ZNF367	195828	broad.mit.edu	37	9	99157134	99157134	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:99157134C>T	ENST00000375256.4	-	3	958	c.662G>A	c.(661-663)gGa>gAa	p.G221E		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	221					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G221E(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				AGGTTTCTCTCCGGTGTGAAG	0.398																																					p.G221E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G662A	9						.						84.0	76.0	79.0					9																	99157134		2203	4300	6503	98196955	SO:0001583	missense	195828	exon3			AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.662G>A	9.37:g.99157134C>T	ENSP00000364405:p.Gly221Glu		98196955	NM_153695	Q6Q7C8	Missense_Mutation	SNP	ENST00000375256.4	37	CCDS6718.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905127	0.92035	.	.	ENSG00000165244	ENST00000375256	T	0.25749	1.78	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	L	0.28458	0.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.35847	-0.9772	10	0.87932	D	0	-9.156	18.7044	0.91632	0.0:1.0:0.0:0.0	.	221;221	Q7RTV3-2;Q7RTV3	.;ZN367_HUMAN	E	221	ENSP00000364405:G221E	ENSP00000364405:G221E	G	-	2	0	ZNF367	98196955	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.289000	0.78701	2.653000	0.90120	0.650000	0.86243	GGA		0.398	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1		
CTSV	1515	broad.mit.edu	37	9	99797124	99797124	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:99797124G>A	ENST00000259470.5	-	7	1038	c.789C>T	c.(787-789)ggC>ggT	p.G263G	CTSV_ENST00000538255.1_Splice_Site_p.G263G|CTSV_ENST00000479932.1_5'Flank	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	263					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.G263G(1)									CAAAATAAATGCCTGGGAGAG	0.463																																					p.G263G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C789T	9						.						72.0	70.0	71.0					9																	99797124		2203	4300	6503	98836945	SO:0001630	splice_region_variant	1515	exon7			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.788-1C>T	9.37:g.99797124G>A			98836945	NM_001333	O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	CCDS6723.1																																																																																				0.463	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333	Silent
TDRD7	23424	broad.mit.edu	37	9	100193272	100193272	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:100193272C>T	ENST00000355295.4	+	3	560	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	TDRD7_ENST00000422139.2_Missense_Mutation_p.R15C	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	89					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.R89C(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GCTTGTGGCTCGTCAAAGGAG	0.423																																					p.R89C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C265T	9						.						123.0	130.0	128.0					9																	100193272		2203	4300	6503	99233093	SO:0001583	missense	23424	exon3			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.265C>T	9.37:g.100193272C>T	ENSP00000347444:p.Arg89Cys		99233093	NM_014290	A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958847	0.53400	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.19938	2.48;2.11	5.51	3.68	0.42216	.	0.643223	0.17243	N	0.181450	T	0.17280	0.0415	L	0.38531	1.155	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.03043	-1.1079	10	0.52906	T	0.07	-5.4837	10.0791	0.42379	0.0:0.8369:0.0:0.1631	.	89	Q8NHU6	TDRD7_HUMAN	C	89;15	ENSP00000347444:R89C;ENSP00000413608:R15C	ENSP00000347444:R89C	R	+	1	0	TDRD7	99233093	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	0.938000	0.28965	0.825000	0.34637	0.650000	0.86243	CGT		0.423	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
TMOD1	7111	broad.mit.edu	37	9	100308524	100308524	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:100308524G>A	ENST00000259365.4	+	3	391	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	TMOD1_ENST00000395211.2_Missense_Mutation_p.G60S	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	60	Tropomyosin-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)		p.G60S(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GGCGCCCACGGGCCCCTTTAA	0.547																																					p.G60S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G178A	9						.						79.0	86.0	84.0					9																	100308524		2203	4300	6503	99348345	SO:0001583	missense	7111	exon3				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.178G>A	9.37:g.100308524G>A	ENSP00000259365:p.Gly60Ser		99348345	NM_001166116	B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	ENST00000259365.4	37	CCDS6726.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439452	0.96168	.	.	ENSG00000136842	ENST00000395211;ENST00000259365	T;T	0.39229	1.09;1.09	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.77286	-0.2644	10	0.87932	D	0	-15.4123	17.6196	0.88077	0.0:0.0:1.0:0.0	.	60	P28289	TMOD1_HUMAN	S	60	ENSP00000378637:G60S;ENSP00000259365:G60S	ENSP00000259365:G60S	G	+	1	0	TMOD1	99348345	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.891000	0.87319	2.578000	0.87016	0.655000	0.94253	GGC		0.547	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275	
XPA	7507	broad.mit.edu	37	9	100455964	100455964	+	Nonsense_Mutation	SNP	C	C	A	rs3176652		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:100455964C>A	ENST00000375128.4	-	2	314	c.250G>T	c.(250-252)Gaa>Taa	p.E84*		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	84	Interaction with CEP164 and required for UV resistance.|Poly-Glu.				DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)	p.E84*(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				ATTTTCTGTTCTTCTTCTTCT	0.343			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.E84X		yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""xeroderma pigmentosum, complementation group A"""		E	.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G250T	9						.						102.0	102.0	102.0					9																	100455964		2203	4300	6503	99495785	SO:0001587	stop_gained	7507	exon2	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.250G>T	9.37:g.100455964C>A	ENSP00000364270:p.Glu84*		99495785	NM_000380	Q5T1U9|Q6LCW7|Q6LD02	Nonsense_Mutation	SNP	ENST00000375128.4	37	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366295	0.82463	.	.	ENSG00000136936	ENST00000375128	.	.	.	5.22	1.22	0.21188	.	0.317848	0.36703	N	0.002459	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	5.6513	0.17618	0.0:0.6043:0.1429:0.2528	.	.	.	.	X	84	.	ENSP00000364270:E84X	E	-	1	0	XPA	99495785	0.295000	0.24389	0.002000	0.10522	0.949000	0.60115	0.155000	0.16362	0.029000	0.15352	0.411000	0.27672	GAA		0.343	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380	
CACNA1B	774	broad.mit.edu	37	9	140997173	140997173	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chr9:140997173A>C	ENST00000371372.1	+	38	5378	c.5233A>C	c.(5233-5235)Agt>Cgt	p.S1745R	CACNA1B_ENST00000277551.2_Missense_Mutation_p.S1745R|CACNA1B_ENST00000277549.5_Missense_Mutation_p.S939R|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S1746R|CACNA1B_ENST00000371357.1_Missense_Mutation_p.S1744R|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S1743R|CACNA1B_ENST00000371365.2_Intron	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1745	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.S1745R(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGGCGCATCAGTTACAATGA	0.622																																					p.S1745R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5233C	9						.						54.0	59.0	57.0					9																	140997173		1955	4129	6084	140116994	SO:0001583	missense	774	exon37			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5233A>C	9.37:g.140997173A>C	ENSP00000360423:p.Ser1745Arg		140116994	NM_000718	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114274	0.56505	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.96940	-3.96;-3.96;-4.18;-3.96;-3.94;-3.94	4.71	4.71	0.59529	.	0.702716	0.14109	N	0.340841	D	0.92906	0.7743	L	0.40543	1.245	0.38513	D	0.948522	P;P	0.46706	0.883;0.883	B;B	0.40477	0.33;0.33	D	0.91895	0.5527	10	0.49607	T	0.09	.	8.8528	0.35210	0.9152:0.0:0.0848:0.0	.	1744;1743	B1AQK7;B1AQK6	.;.	R	1745;1745;939;1743;1744;1746	ENSP00000360423:S1745R;ENSP00000277551:S1745R;ENSP00000277549:S939R;ENSP00000360414:S1743R;ENSP00000360408:S1744R;ENSP00000360406:S1746R	ENSP00000277549:S939R	S	+	1	0	CACNA1B	140116994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.361000	0.59461	1.753000	0.51906	0.454000	0.30748	AGT		0.622	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
WWC3	55841	broad.mit.edu	37	X	10046904	10046904	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:10046904C>T	ENST00000380861.4	+	4	677	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	WWC3_ENST00000454666.1_Missense_Mutation_p.R96C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	96					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.R96C(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AATAGCAAGTCGTCGGGATAG	0.413																																					p.R96C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C286T	X						.						112.0	104.0	107.0					X																	10046904		2203	4300	6503	10006904	SO:0001583	missense	55841	exon4			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.286C>T	X.37:g.10046904C>T	ENSP00000370242:p.Arg96Cys		10006904	NM_015691	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018514	0.75275	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.05258	3.47;3.47	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00295	-1.1839	10	0.72032	D	0.01	-13.2111	18.0379	0.89309	0.0:1.0:0.0:0.0	.	96	Q9ULE0	WWC3_HUMAN	C	96	ENSP00000370242:R96C;ENSP00000399584:R96C	ENSP00000370242:R96C	R	+	1	0	WWC3	10006904	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.046000	0.64226	2.381000	0.81170	0.600000	0.82982	CGT		0.413	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
TRMT2B	79979	broad.mit.edu	37	X	100277038	100277038	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:100277038A>G	ENST00000372936.3	-	9	1542	c.770T>C	c.(769-771)gTt>gCt	p.V257A	TRMT2B_ENST00000372931.5_Missense_Mutation_p.V257A|TRMT2B_ENST00000338687.7_Missense_Mutation_p.V212A|TRMT2B_ENST00000372935.1_Missense_Mutation_p.V257A|TRMT2B_ENST00000545398.1_Missense_Mutation_p.V257A|TRMT2B_ENST00000372939.1_Missense_Mutation_p.V212A|TRMT2B_ENST00000478422.1_5'Flank	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	257						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)	p.V257A(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTCCTTCTGAACATGGAGCTC	0.448																																					p.V257A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T770C	X						.						67.0	62.0	63.0					X																	100277038		2203	4300	6503	100163694	SO:0001583	missense	79979	exon9			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.770T>C	X.37:g.100277038A>G	ENSP00000362027:p.Val257Ala		100163694	NM_001167970	A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	A	0.115	-1.132777	0.01756	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.42131	1.0;1.0;1.0;1.0;1.0;0.98	4.69	-2.57	0.06248	.	0.900212	0.09587	N	0.781965	T	0.17066	0.0410	N	0.17474	0.49	0.22354	N	0.999171	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.27971	-1.0058	10	0.06494	T	0.89	-7.4806	1.8647	0.03195	0.2867:0.1589:0.3961:0.1583	.	212;257;257	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	A	212;257;212;257;257;257	ENSP00000340970:V212A;ENSP00000438134:V257A;ENSP00000362030:V212A;ENSP00000362026:V257A;ENSP00000362027:V257A;ENSP00000362022:V257A	ENSP00000340970:V212A	V	-	2	0	TRMT2B	100163694	0.175000	0.23083	0.040000	0.18447	0.391000	0.30476	0.485000	0.22324	-0.531000	0.06340	-0.776000	0.03382	GTT		0.448	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917	
BTK	695	broad.mit.edu	37	X	100613399	100613399	+	Missense_Mutation	SNP	T	T	C	rs128621196		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:100613399T>C	ENST00000308731.7	-	12	1164	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	BTK_ENST00000372880.1_Missense_Mutation_p.Y334C	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	334	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		Y -> S (in XLA). {ECO:0000269|PubMed:7880320}.		adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.Y334C(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACACACAACATAATGACGTAT	0.483									Agammaglobulinemia, X-linked																												p.Y334C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1001G	X	GRCh37	CM940191	BTK	M	rs128621196	.						172.0	143.0	153.0					X																	100613399		2203	4300	6503	100500055	SO:0001583	missense	695	exon12	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1001A>G	X.37:g.100613399T>C	ENSP00000308176:p.Tyr334Cys		100500055	NM_000061	B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227268	0.79576	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000395179;ENST00000372869;ENST00000443591;ENST00000308731;ENST00000540426	D;D	0.89810	-2.57;-2.57	6.06	6.06	0.98353	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	M	0.72624	2.21	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.94413	0.7633	10	0.87932	D	0	.	15.1689	0.72854	0.0:0.0:0.0:1.0	.	5;334;334;334	Q3MS94;Q5JY90;B2RAW1;Q06187	.;.;.;BTK_HUMAN	C	334;5;5;3;5;5;5;334;4	ENSP00000361971:Y334C;ENSP00000308176:Y334C	ENSP00000308176:Y334C	Y	-	2	0	BTK	100500055	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.817000	0.86213	2.044000	0.60594	0.486000	0.48141	TAT		0.483	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	
WWC3	55841	broad.mit.edu	37	X	10090717	10090717	+	Silent	SNP	C	C	T	rs372800792		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:10090717C>T	ENST00000380861.4	+	12	2080	c.1689C>T	c.(1687-1689)tcC>tcT	p.S563S	WWC3_ENST00000454666.1_Silent_p.S563S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	563					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.S563S(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCCGCATCTCCGCATGTCTGT	0.512																																					p.S563S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1689T	X						.	C		2,3833		0,2,1630,571	274.0	247.0	256.0		1689	-9.4	0.0	X		256	0,6728		0,0,2428,1872	no	coding-synonymous	WWC3	NM_015691.3		0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189		563/1093	10090717	2,10561	2203	4300	6503	10050717	SO:0001819	synonymous_variant	55841	exon12			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1689C>T	X.37:g.10090717C>T			10050717	NM_015691	A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	0.325	-0.959760	0.02267	5.22E-4	0.0	ENSG00000047644	ENST00000398613	.	.	.	4.72	-9.45	0.00600	.	.	.	.	.	T	0.43233	0.1238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49890	-0.8891	4	.	.	.	-20.4243	5.9811	0.19407	0.2642:0.405:0.0:0.3308	.	.	.	.	C	568	.	.	R	+	1	0	WWC3	10050717	0.091000	0.21658	0.000000	0.03702	0.052000	0.14988	-0.796000	0.04575	-1.860000	0.01154	-1.350000	0.01237	CGC		0.512	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
BTK	695	broad.mit.edu	37	X	100617223	100617223	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:100617223T>G	ENST00000308731.7	-	7	689	c.526A>C	c.(526-528)Aaa>Caa	p.K176Q	BTK_ENST00000372880.1_Missense_Mutation_p.K176Q	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	176					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.K176Q(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTCCCAGGTTTTAAGCCTGCA	0.507									Agammaglobulinemia, X-linked																												p.K176Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A526C	X						.						105.0	90.0	95.0					X																	100617223		2203	4300	6503	100503879	SO:0001583	missense	695	exon7	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.526A>C	X.37:g.100617223T>G	ENSP00000308176:p.Lys176Gln		100503879	NM_000061	B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571145	0.45798	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;T	0.81908	-1.55;-0.97	5.5	5.5	0.81552	.	0.056199	0.64402	D	0.000001	T	0.64394	0.2594	N	0.08118	0	0.43885	D	0.9965	P;B;B	0.38922	0.651;0.244;0.159	B;B;B	0.31946	0.138;0.054;0.025	T	0.66337	-0.5949	10	0.22109	T	0.4	.	13.3049	0.60347	0.0:0.0:0.0:1.0	.	176;176;176	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	Q	176	ENSP00000361971:K176Q;ENSP00000308176:K176Q	ENSP00000308176:K176Q	K	-	1	0	BTK	100503879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.923000	0.70045	1.858000	0.53909	0.430000	0.28490	AAA		0.507	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	
BTK	695	broad.mit.edu	37	X	100629612	100629612	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:100629612C>T	ENST00000308731.7	-	3	315	c.152G>A	c.(151-153)aGt>aAt	p.S51N	BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.S51N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	51	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.S51N(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCCTTCTTACTGCCTCTTCT	0.373									Agammaglobulinemia, X-linked																												p.S51N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G152A	X						.						178.0	168.0	171.0					X																	100629612		2203	4300	6503	100516268	SO:0001583	missense	695	exon3	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.152G>A	X.37:g.100629612C>T	ENSP00000308176:p.Ser51Asn		100516268	NM_000061	B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992557	0.54041	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93763	-3.28;-3.28	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.128354	0.64402	D	0.000001	D	0.89729	0.6799	L	0.34521	1.04	0.58432	D	0.999999	B;B;B	0.12013	0.002;0.0;0.005	B;B;B	0.12837	0.003;0.0;0.008	D	0.84829	0.0801	10	0.31617	T	0.26	.	17.352	0.87327	0.0:1.0:0.0:0.0	.	51;51;51	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	N	51	ENSP00000361971:S51N;ENSP00000308176:S51N	ENSP00000308176:S51N	S	-	2	0	BTK	100516268	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.725000	0.68507	2.580000	0.87095	0.600000	0.82982	AGT		0.373	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	
GLA	2717	broad.mit.edu	37	X	100653895	100653895	+	Nonsense_Mutation	SNP	G	G	A	rs104894841		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:100653895G>A	ENST00000218516.3	-	5	700	c.679C>T	c.(679-681)Cga>Tga	p.R227*	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	227			R -> Q (in FD; dbSNP:rs28935198). {ECO:0000269|PubMed:10916280, ECO:0000269|PubMed:7504405}.		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)	p.R227*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GCAAAATTTCGCCAGTGATTG	0.388																																					p.R227X	Colon(193;776 2816 31189 44474)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C679T	X	GRCh37	CM930329	GLA	M	rs104894841	.						167.0	160.0	162.0					X																	100653895		2203	4300	6503	100540551	SO:0001587	stop_gained	2717	exon5			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.679C>T	X.37:g.100653895G>A	ENSP00000218516:p.Arg227*		100540551	NM_000169	Q6LER7	Nonsense_Mutation	SNP	ENST00000218516.3	37	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019139	0.75275	.	.	ENSG00000102393	ENST00000218516	.	.	.	5.67	3.29	0.37713	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8372	8.0092	0.30342	0.0:0.0724:0.1394:0.7882	.	.	.	.	X	227	.	ENSP00000218516:R227X	R	-	1	2	GLA	100540551	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	3.746000	0.55127	0.348000	0.23949	-0.315000	0.08773	CGA		0.388	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1		
TMSB15A	11013	broad.mit.edu	37	X	101770060	101770060	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:101770060T>A	ENST00000289373.4	-	2	167	c.32A>T	c.(31-33)gAg>gTg	p.E11V		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	11					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E11V(1)		large_intestine(1)|lung(1)	2						GTCAAACTTCTCCACTTCCGA	0.388																																					p.E11V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A32T	X						.						115.0	108.0	111.0					X																	101770060		2203	4300	6503	101656716	SO:0001583	missense	11013	exon2			D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"""thymosin-like 8"""	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.32A>T	X.37:g.101770060T>A	ENSP00000289373:p.Glu11Val		101656716	NM_021992	A8K614|Q99406	Missense_Mutation	SNP	ENST00000289373.4	37	CCDS14498.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.794099	0.31777	.	.	ENSG00000158164	ENST00000289373	T	0.51325	0.71	3.47	3.47	0.39725	.	0.114001	0.34531	N	0.003886	T	0.57066	0.2028	.	.	.	0.27027	N	0.964324	P	0.49253	0.921	P	0.56788	0.806	T	0.51741	-0.8667	9	0.72032	D	0.01	5.0874	9.2383	0.37479	0.0:0.0:0.0:1.0	.	11	P0CG34	TB15A_HUMAN	V	11	ENSP00000289373:E11V	ENSP00000289373:E11V	E	-	2	0	TMSB15A	101656716	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	2.653000	0.46691	1.282000	0.44496	0.430000	0.28490	GAG		0.388	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057621.1	NM_021992	
ARMCX5	64860	broad.mit.edu	37	X	101857761	101857761	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:101857761T>C	ENST00000604957.1	+	1	3314	c.692T>C	c.(691-693)gTc>gCc	p.V231A	RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.V231A|ARMCX5_ENST00000537008.1_Missense_Mutation_p.V231A|ARMCX5_ENST00000541409.1_Missense_Mutation_p.V231A|ARMCX5_ENST00000536530.1_Missense_Mutation_p.V231A|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000372742.1_Missense_Mutation_p.V231A	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	231								p.V231A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGTATATTGTCCTAGTTCCA	0.483																																					p.V231A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T692C	X						.						116.0	107.0	110.0					X																	101857761		2203	4300	6503	101744417	SO:0001583	missense	64860	exon5				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.692T>C	X.37:g.101857761T>C	ENSP00000474720:p.Val231Ala		101744417	NM_001168485	B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742680	0.49151	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	3.7	3.7	0.42460	.	0.000000	0.38272	N	0.001759	T	0.26011	0.0634	L	0.29908	0.895	0.31457	N	0.669988	D	0.76494	0.999	D	0.73708	0.981	T	0.06862	-1.0803	10	0.13108	T	0.6	-6.656	7.9689	0.30115	0.0:0.0:0.0:1.0	.	231	Q6P1M9	ARMX5_HUMAN	A	231	ENSP00000246174:V231A;ENSP00000439001:V231A;ENSP00000446385:V231A;ENSP00000445851:V231A;ENSP00000361827:V231A	ENSP00000246174:V231A	V	+	2	0	ARMCX5	101744417	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	1.190000	0.32126	1.696000	0.51158	0.486000	0.48141	GTC		0.483	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838	
GPRASP2	114928	broad.mit.edu	37	X	101971999	101971999	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:101971999G>A	ENST00000535209.1	+	4	3033	c.2202G>A	c.(2200-2202)acG>acA	p.T734T	GPRASP2_ENST00000543253.1_Silent_p.T734T|GPRASP2_ENST00000332262.5_Silent_p.T734T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	734						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.T734T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						ATGCGAGAACGAAGTTTCACG	0.403																																					p.T734T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2202A	X						.						93.0	86.0	88.0					X																	101971999		2203	4300	6503	101858655	SO:0001819	synonymous_variant	114928	exon5			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2202G>A	X.37:g.101971999G>A			101858655	NM_001004051	D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	CCDS14501.1																																																																																				0.403	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437	
BHLHB9	80823	broad.mit.edu	37	X	102005483	102005483	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:102005483C>T	ENST00000372735.1	+	4	2145	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	BHLHB9_ENST00000457056.1_Silent_p.G520G|BHLHB9_ENST00000448867.1_Silent_p.G520G|BHLHB9_ENST00000447531.1_Silent_p.G520G|BHLHB9_ENST00000361229.4_Silent_p.G520G			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	520					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.G520G(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCAGAAAAGGCTCAATTGTAG	0.353																																					p.G520G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1560T	X						.						104.0	94.0	97.0					X																	102005483		2203	4300	6503	101892139	SO:0001819	synonymous_variant	80823	exon4			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.1560C>T	X.37:g.102005483C>T			101892139	NM_001142528	Q9C0G2	Silent	SNP	ENST00000372735.1	37	CCDS14502.1																																																																																				0.353	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639	
WBP5	51186	broad.mit.edu	37	X	102612838	102612838	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:102612838G>A	ENST00000372661.3	+	3	537	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	WBP5_ENST00000372656.3_Missense_Mutation_p.E76K	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WBP5_HUMAN	WW domain binding protein 5	76	Glu-rich.							p.E76K(1)		breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AGAAGTGGATGAAATAGATGA	0.353																																					p.E76K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G226A	X						.						114.0	110.0	111.0					X																	102612838		2203	4300	6503	102499494	SO:0001583	missense	51186	exon3			BC023544	CCDS14507.1	Xq22.2	2014-03-21			ENSG00000185222	ENSG00000185222			30084	protein-coding gene	gene with protein product	"""pp21 homolog"""					16221301	Standard	NM_001006612		Approved	DKFZp313K1940, TCEAL9, WEX6	uc004ekg.3	Q9UHQ7	OTTHUMG00000022097	ENST00000372661.3:c.226G>A	X.37:g.102612838G>A	ENSP00000361745:p.Glu76Lys		102499494	NM_001006612	B2R5H6	Missense_Mutation	SNP	ENST00000372661.3	37	CCDS14507.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580676	0.65992	.	.	ENSG00000185222	ENST00000372661;ENST00000372656	T;T	0.14266	2.52;2.52	4.04	3.17	0.36434	.	0.000000	0.40640	N	0.001050	T	0.15003	0.0362	M	0.61703	1.905	0.26053	N	0.981459	P	0.42735	0.788	B	0.41202	0.35	T	0.11542	-1.0583	10	0.72032	D	0.01	-15.5875	6.8126	0.23812	0.1288:0.0:0.8712:0.0	.	76	Q9UHQ7	WPB5_HUMAN	K	76	ENSP00000361745:E76K;ENSP00000361740:E76K	ENSP00000361740:E76K	E	+	1	0	WBP5	102499494	1.000000	0.71417	0.821000	0.32701	0.992000	0.81027	2.165000	0.42396	1.048000	0.40298	0.594000	0.82650	GAA		0.353	WBP5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057706.1	NM_016303	
MORF4L2	9643	broad.mit.edu	37	X	102931452	102931452	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:102931452C>T	ENST00000441076.2	-	4	808	c.504G>A	c.(502-504)tcG>tcA	p.S168S	MORF4L2_ENST00000422154.2_Silent_p.S168S|MORF4L2_ENST00000360458.1_Silent_p.S168S|MORF4L2_ENST00000423833.2_Silent_p.S168S|MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000433176.2_Silent_p.S168S|MORF4L2_ENST00000451301.1_Silent_p.S168S	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	168	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S168S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CATTTCCCTGCGATTTCTTGC	0.408																																					p.S168S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G504A	X						.						127.0	122.0	124.0					X																	102931452		2203	4300	6503	102818108	SO:0001819	synonymous_variant	9643	exon5			AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.504G>A	X.37:g.102931452C>T			102818108	NM_001142429	B3KP92|D3DXA5|Q567V0|Q8J026	Silent	SNP	ENST00000441076.2	37	CCDS14512.1																																																																																				0.408	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286	
GLRA4	441509	broad.mit.edu	37	X	102979101	102979101	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:102979101G>A	ENST00000372617.4	-	4	819	c.399C>T	c.(397-399)ttC>ttT	p.F133F	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	133						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.F133F(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CATTAGCAAAGAAGAGGTCTG	0.507																																					p.F133F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C399T	X						.						158.0	156.0	157.0					X																	102979101		2143	4271	6414	102865757	SO:0001819	synonymous_variant	441509	exon4			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.399C>T	X.37:g.102979101G>A			102865757	NM_001172285		Silent	SNP	ENST00000372617.4	37	CCDS43980.2																																																																																				0.507	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452	
ESX1	80712	broad.mit.edu	37	X	103498867	103498867	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:103498867G>A	ENST00000372588.4	-	2	557	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	158					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.F158F(2)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GAGATTCATCGAAAAAGTTCT	0.607																																					p.F158F	Pancreas(200;1705 2227 25194 28471 45274)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C474T	X						.						53.0	53.0	53.0					X																	103498867		2203	4298	6501	103385523	SO:0001819	synonymous_variant	80712	exon2			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.474C>T	X.37:g.103498867G>A			103385523	NM_153448	B0QYU3|Q7Z6K7	Silent	SNP	ENST00000372588.4	37	CCDS14516.1																																																																																				0.607	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448	
MORC4	79710	broad.mit.edu	37	X	106184786	106184786	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:106184786G>A	ENST00000355610.4	-	17	3011	c.2737C>T	c.(2737-2739)Cgt>Tgt	p.R913C	MORC4_ENST00000255495.7_Missense_Mutation_p.S900L|MORC4_ENST00000535534.1_Missense_Mutation_p.S648L	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	913						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R736C(1)|p.R913C(1)		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						CCGATCTCACGAAGCTCCAAG	0.522																																					p.S900L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2699T	X						.						136.0	97.0	110.0					X																	106184786		2203	4300	6503	106071442	SO:0001583	missense	79710	exon17			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.2737C>T	X.37:g.106184786G>A	ENSP00000347821:p.Arg913Cys		106071442	NM_001085354	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	CCDS14525.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.78|16.78	3.218455|3.218455	0.58560|0.58560	.|.	.|.	ENSG00000133131|ENSG00000133131	ENST00000355610|ENST00000535534;ENST00000255495	T|T;T	0.12672|0.32988	2.66|1.43;2.68	5.07|5.07	4.16|4.16	0.48862|0.48862	.|.	0.343654|.	0.25250|.	N|.	0.032035|.	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.51422|0.51422	1.61|1.61	0.20563|0.20563	N|N	0.999881|0.999881	D|D;D	0.89917|0.57571	1.0|0.98;0.98	D|P;P	0.71414|0.44422	0.973|0.449;0.449	T|T	0.20140|0.20140	-1.0284|-1.0284	10|9	0.87932|0.87932	D|D	0|0	-7.0577|-7.0577	11.2338|11.2338	0.48929|0.48929	0.0:0.2021:0.7979:0.0|0.0:0.2021:0.7979:0.0	.|.	913|648;900	Q8TE76|A1YR24;A1YR23	MORC4_HUMAN|.;.	C|L	913|648;900	ENSP00000347821:R913C|ENSP00000440359:S648L;ENSP00000255495:S900L	ENSP00000347821:R913C|ENSP00000255495:S900L	R|S	-|-	1|2	0|0	MORC4|MORC4	106071442|106071442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.688000|2.688000	0.46984|0.46984	2.104000|2.104000	0.64026|0.64026	0.431000|0.431000	0.28591|0.28591	CGT|TCG		0.522	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	
MORC4	79710	broad.mit.edu	37	X	106186340	106186340	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:106186340G>A	ENST00000355610.4	-	15	2055	c.1781C>T	c.(1780-1782)gCt>gTt	p.A594V	MORC4_ENST00000255495.7_Missense_Mutation_p.A594V|MORC4_ENST00000535534.1_Missense_Mutation_p.A342V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	594						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A594V(1)|p.A417V(1)		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						CCTGTAAGGAGCAGGCATGGA	0.473																																					p.A594V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1781T	X						.						146.0	142.0	143.0					X																	106186340		2203	4300	6503	106072996	SO:0001583	missense	79710	exon15			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.1781C>T	X.37:g.106186340G>A	ENSP00000347821:p.Ala594Val		106072996	NM_001085354	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355255	0.24512	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.40756	2.32;1.02;2.27	5.16	1.92	0.25849	.	0.727304	0.12109	N	0.498668	T	0.25382	0.0617	N	0.22421	0.69	0.09310	N	1	B;B;B	0.23735	0.09;0.09;0.09	B;B;B	0.20767	0.031;0.014;0.031	T	0.17961	-1.0352	10	0.39692	T	0.17	0.3058	5.0182	0.14347	0.0:0.578:0.1864:0.2355	.	342;594;594	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	V	594;342;594	ENSP00000347821:A594V;ENSP00000440359:A342V;ENSP00000255495:A594V	ENSP00000255495:A594V	A	-	2	0	MORC4	106072996	0.003000	0.15002	0.086000	0.20670	0.910000	0.53928	0.410000	0.21098	0.403000	0.25479	-0.368000	0.07277	GCT		0.473	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	
MID2	11043	broad.mit.edu	37	X	107170080	107170080	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:107170080A>G	ENST00000262843.6	+	10	2533	c.1985A>G	c.(1984-1986)aAc>aGc	p.N662S	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.N632S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	662	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.N642S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GATTATGACAACAATATGCTG	0.453																																					p.N662S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1985G	X						.						208.0	152.0	171.0					X																	107170080		2203	4300	6503	107056736	SO:0001583	missense	11043	exon10				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1985A>G	X.37:g.107170080A>G	ENSP00000262843:p.Asn662Ser		107056736	NM_012216	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	A	6.035	0.374790	0.11409	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.68025	-0.3;-0.3	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	N	0.12746	0.255	0.42504	D	0.992942	B;B	0.23937	0.094;0.013	B;B	0.32393	0.145;0.016	T	0.50890	-0.8774	10	0.36615	T	0.2	.	12.2724	0.54714	1.0:0.0:0.0:0.0	.	662;632	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	S	662;632	ENSP00000262843:N662S;ENSP00000413976:N632S	ENSP00000262843:N662S	N	+	2	0	MID2	107056736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.563000	0.67352	1.802000	0.52723	0.483000	0.47432	AAC		0.453	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216	
COL4A6	1288	broad.mit.edu	37	X	107431200	107431200	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:107431200G>T	ENST00000372216.4	-	22	1748	c.1648C>A	c.(1648-1650)Ctc>Atc	p.L550I	COL4A6_ENST00000545689.1_Missense_Mutation_p.L549I|COL4A6_ENST00000334504.7_Missense_Mutation_p.L549I|COL4A6_ENST00000394872.2_Missense_Mutation_p.L550I|COL4A6_ENST00000538570.1_Missense_Mutation_p.L549I	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	550	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.L549I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATTGTACTGAGAATTGGTTCC	0.517									Alport syndrome with Diffuse Leiomyomatosis																												p.L549I	Melanoma(87;1895 1945 2589 7165)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1645A	X						.						97.0	95.0	96.0					X																	107431200		2203	4300	6503	107317856	SO:0001583	missense	1288	exon22	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1648C>A	X.37:g.107431200G>T	ENSP00000361290:p.Leu550Ile		107317856	NM_033641	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	7.828	0.719181	0.15372	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	5.05	-2.21	0.06973	.	1.174900	0.06505	N	0.736934	T	0.79930	0.4531	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.10296	0.002;0.002;0.003;0.002	B;B;B;B	0.11329	0.003;0.003;0.006;0.003	T	0.64381	-0.6421	10	0.18276	T	0.48	.	0.9649	0.01403	0.3593:0.3108:0.1628:0.1672	.	549;549;550;549	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	I	550;549;550;549;549;549	ENSP00000361290:L550I;ENSP00000334733:L549I;ENSP00000378340:L550I;ENSP00000443707:L549I;ENSP00000445236:L549I	ENSP00000334733:L549I	L	-	1	0	COL4A6	107317856	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-1.182000	0.03082	-0.487000	0.06735	0.513000	0.50165	CTC		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
IRS4	8471	broad.mit.edu	37	X	107976196	107976196	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:107976196T>G	ENST00000372129.2	-	1	3455	c.3379A>C	c.(3379-3381)Act>Cct	p.T1127P	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1127	Ala-rich.				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)	p.T1127P(1)		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						AGGGCTAAAGTCGGCTCTGCA	0.657																																					p.T1127P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3379C	X						.						41.0	45.0	44.0					X																	107976196		2201	4299	6500	107862852	SO:0001583	missense	8471	exon1			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.3379A>C	X.37:g.107976196T>G	ENSP00000361202:p.Thr1127Pro		107862852	NM_003604		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018341	0.54576	.	.	ENSG00000133124	ENST00000372129	T	0.37058	1.22	4.94	0.94	0.19513	.	0.820105	0.10548	N	0.661826	T	0.19846	0.0477	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22695	-1.0209	10	0.33940	T	0.23	-0.6165	3.7144	0.08433	0.0:0.2347:0.2578:0.5075	.	1127	O14654	IRS4_HUMAN	P	1127	ENSP00000361202:T1127P	ENSP00000361202:T1127P	T	-	1	0	IRS4	107862852	0.000000	0.05858	0.005000	0.12908	0.134000	0.20937	-0.214000	0.09292	-0.036000	0.13669	0.417000	0.27973	ACT		0.657	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
GUCY2F	2986	broad.mit.edu	37	X	108652239	108652239	+	Silent	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:108652239G>T	ENST00000218006.2	-	9	2241	c.1950C>A	c.(1948-1950)ctC>ctA	p.L650L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.L650L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GATCCAGCAAGAGTGATGATT	0.373																																					p.L650L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1950A	X						.						155.0	133.0	141.0					X																	108652239		2203	4300	6503	108538895	SO:0001819	synonymous_variant	2986	exon9			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.1950C>A	X.37:g.108652239G>T			108538895	NM_001522	Q9UJF1	Silent	SNP	ENST00000218006.2	37	CCDS14545.1																																																																																				0.373	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522	
KCNE1L	23630	broad.mit.edu	37	X	108868049	108868049	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:108868049C>A	ENST00000372101.2	-	1	344	c.201G>T	c.(199-201)atG>atT	p.M67I		NM_012282.2	NP_036414.1	Q9UJ90	KCE1L_HUMAN	KCNE1-like	67					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)	p.M67I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CGTAGAAGATCATGATGAGCA	0.657																																					p.M67I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G201T	X						.						44.0	39.0	40.0					X																	108868049		2202	4298	6500	108754705	SO:0001583	missense	23630	exon1			AJ012743	CCDS14547.1	Xq22.3	2008-02-05	2004-06-09		ENSG00000176076	ENSG00000176076		"""Potassium channels"""	6241	protein-coding gene	gene with protein product		300328	"""potassium voltage-gated channel, Isk-related family, member 1-like"""			10493825	Standard	NM_012282		Approved		uc004eoh.3	Q9UJ90	OTTHUMG00000022189	ENST00000372101.2:c.201G>T	X.37:g.108868049C>A	ENSP00000361173:p.Met67Ile		108754705	NM_012282		Missense_Mutation	SNP	ENST00000372101.2	37	CCDS14547.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.122935	0.77436	.	.	ENSG00000176076	ENST00000372101	T	0.75938	-0.98	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000001	D	0.82939	0.5146	L	0.52573	1.65	0.44188	D	0.997	D	0.67145	0.996	D	0.76071	0.987	D	0.85020	0.0911	10	0.72032	D	0.01	-32.1607	17.0852	0.86610	0.0:1.0:0.0:0.0	.	67	Q9UJ90	KCE1L_HUMAN	I	67	ENSP00000361173:M67I	ENSP00000361173:M67I	M	-	3	0	KCNE1L	108754705	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	4.668000	0.61568	2.253000	0.74438	0.431000	0.28591	ATG		0.657	KCNE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057892.1	NM_012282	
CHRDL1	91851	broad.mit.edu	37	X	109919533	109919533	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:109919533G>A	ENST00000372045.1	-	12	1410	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	CHRDL1_ENST00000444321.2_Missense_Mutation_p.R434C|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R435C|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R354C|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R355C|CHRDL1_ENST00000218054.4_Missense_Mutation_p.R433C|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R433C			Q9BU40	CRDL1_HUMAN	chordin-like 1	427					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R433C(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CTGCATACACGACTTGAACAC	0.473																																					p.R435C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1303T	X						.						151.0	121.0	131.0					X																	109919533		2203	4300	6503	109806189	SO:0001583	missense	91851	exon12			AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1279C>T	X.37:g.109919533G>A	ENSP00000361115:p.Arg427Cys		109806189	NM_001143981	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37		.	.	.	.	.	.	.	.	.	.	G	18.42	3.619822	0.66787	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.34859	2.09;1.34;2.09;2.09;2.35;1.35;2.09	4.79	4.79	0.61399	.	0.254869	0.34628	N	0.003808	T	0.36026	0.0952	L	0.27053	0.805	0.54753	D	0.999985	D;D;D;D;D;D	0.76494	0.999;0.975;0.975;0.975;0.975;0.988	P;B;B;B;B;B	0.52957	0.714;0.432;0.432;0.432;0.432;0.412	T	0.05022	-1.0911	9	.	.	.	-5.3579	13.5502	0.61728	0.0:0.0:0.8341:0.1659	.	355;434;414;427;435;354	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	C	427;354;433;433;435;355;434	ENSP00000361115:R427C;ENSP00000389627:R354C;ENSP00000218054:R433C;ENSP00000378276:R433C;ENSP00000361112:R435C;ENSP00000418443:R355C;ENSP00000399739:R434C	.	R	-	1	0	CHRDL1	109806189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.473000	0.53122	2.311000	0.77944	0.600000	0.82982	CGT		0.473	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	
ARHGAP6	395	broad.mit.edu	37	X	11196313	11196313	+	Silent	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:11196313A>C	ENST00000337414.4	-	8	2408	c.1536T>G	c.(1534-1536)ccT>ccG	p.P512P	ARHGAP6_ENST00000380718.1_Silent_p.P512P|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Silent_p.P544P|ARHGAP6_ENST00000534860.1_Silent_p.P337P|ARHGAP6_ENST00000380736.1_Silent_p.P309P|ARHGAP6_ENST00000413512.3_Silent_p.P321P|ARHGAP6_ENST00000303025.6_Silent_p.P309P	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	512	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.P512P(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGTTGCAGGGAGGTAGAAGGT	0.532																																					p.P309P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T927G	X						.						145.0	98.0	114.0					X																	11196313		2203	4300	6503	11106234	SO:0001819	synonymous_variant	395	exon8			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1536T>G	X.37:g.11196313A>C			11106234	NM_013423	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	CCDS14140.1																																																																																				0.532	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427	
CAPN6	827	broad.mit.edu	37	X	110507052	110507052	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:110507052G>T	ENST00000324068.1	-	2	280	c.113C>A	c.(112-114)tCt>tAt	p.S38Y	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	38	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTAGAAAAGAGAATCATTCTC	0.428																																					p.S38Y												.	.	0			c.C113A	X						.						188.0	162.0	171.0					X																	110507052		2203	4300	6503	110393708	SO:0001583	missense	827	exon2			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.113C>A	X.37:g.110507052G>T	ENSP00000317214:p.Ser38Tyr		110393708	NM_014289	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092989	0.76756	.	.	ENSG00000077274	ENST00000324068	D	0.90563	-2.69	5.78	5.78	0.91487	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98423	1.0578	10	0.87932	D	0	.	15.7782	0.78240	0.0:0.0:1.0:0.0	.	38	Q9Y6Q1	CAN6_HUMAN	Y	38	ENSP00000317214:S38Y	ENSP00000317214:S38Y	S	-	2	0	CAPN6	110393708	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.334000	0.72944	2.439000	0.82584	0.544000	0.68410	TCT		0.428	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
LUZP4	51213	broad.mit.edu	37	X	114536596	114536596	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:114536596C>T	ENST00000371920.3	+	2	138	c.131C>T	c.(130-132)gCt>gTt	p.A44V	LUZP4_ENST00000451986.2_Silent_p.L2L	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	44						nucleus (GO:0005634)		p.A44V(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GGGACAAATGCTGAAGAAGAA	0.338																																					p.A44V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C131T	X						.						115.0	109.0	111.0					X																	114536596		2203	4300	6503	114442852	SO:0001583	missense	51213	exon2			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.131C>T	X.37:g.114536596C>T	ENSP00000360988:p.Ala44Val		114442852	NM_016383	B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851728	0.32699	.	.	ENSG00000102021	ENST00000371921;ENST00000371920	T;T	0.51071	0.72;1.33	2.73	0.785	0.18584	.	.	.	.	.	T	0.22003	0.0530	N	0.19112	0.55	0.09310	N	0.999999	P	0.36837	0.571	B	0.33690	0.168	T	0.18116	-1.0347	9	0.02654	T	1	.	4.4922	0.11819	0.2579:0.4938:0.2483:0.0	.	44	Q9P127	LUZP4_HUMAN	V	44	ENSP00000360989:A44V;ENSP00000360988:A44V	ENSP00000360988:A44V	A	+	2	0	LUZP4	114442852	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.477000	0.06583	0.094000	0.17404	0.436000	0.28706	GCT		0.338	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383	
AGTR2	186	broad.mit.edu	37	X	115304069	115304069	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:115304069T>G	ENST00000371906.4	+	3	726	c.536T>G	c.(535-537)tTt>tGt	p.F179C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	179					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)	p.F179C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TTGCCAACATTTTATTTTCGA	0.438																																					p.F179C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T536G	X						.						161.0	145.0	150.0					X																	115304069		2203	4300	6503	115218097	SO:0001583	missense	186	exon3			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.536T>G	X.37:g.115304069T>G	ENSP00000360973:p.Phe179Cys		115218097	NM_000686	B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.630350	0.46944	.	.	ENSG00000180772	ENST00000371906	T	0.39406	1.08	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.184651	0.48767	D	0.000168	T	0.62539	0.2436	M	0.77103	2.36	0.45284	D	0.998283	D	0.69078	0.997	D	0.72075	0.976	T	0.66862	-0.5816	10	0.72032	D	0.01	-12.1758	10.91	0.47103	0.0:0.0:0.0:1.0	.	179	P50052	AGTR2_HUMAN	C	179	ENSP00000360973:F179C	ENSP00000360973:F179C	F	+	2	0	AGTR2	115218097	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	3.653000	0.54446	1.699000	0.51192	0.412000	0.27726	TTT		0.438	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686	
DOCK11	139818	broad.mit.edu	37	X	117786002	117786002	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:117786002A>G	ENST00000276202.7	+	42	4720	c.4657A>G	c.(4657-4659)Att>Gtt	p.I1553V	DOCK11_ENST00000276204.6_Missense_Mutation_p.I1553V	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1553					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I1553V(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTCTTTATTCATTATCAATAA	0.333																																					p.I1553V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A4657G	X						.						84.0	85.0	84.0					X																	117786002		2203	4297	6500	117670030	SO:0001583	missense	139818	exon42			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4657A>G	X.37:g.117786002A>G	ENSP00000276202:p.Ile1553Val		117670030	NM_144658	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	a	14.42	2.531050	0.45073	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.01647	4.71;4.71	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.03348	0.0097	L	0.58302	1.8	0.50039	D	0.999843	B;B	0.12630	0.006;0.006	B;B	0.17979	0.02;0.02	T	0.43475	-0.9389	10	0.45353	T	0.12	-9.5114	14.7758	0.69732	1.0:0.0:0.0:0.0	.	1553;1553	A6NIW2;Q5JSL3	.;DOC11_HUMAN	V	1553	ENSP00000276204:I1553V;ENSP00000276202:I1553V	ENSP00000276202:I1553V	I	+	1	0	DOCK11	117670030	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.946000	0.92992	1.871000	0.54225	0.422000	0.28245	ATT		0.333	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
KIAA1210	57481	broad.mit.edu	37	X	118219434	118219434	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:118219434T>G	ENST00000402510.2	-	12	4759	c.4760A>C	c.(4759-4761)aAg>aCg	p.K1587T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1587								p.K1587T(1)|p.K1411T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTTGAAACTCTTCTGCTTCTG	0.463																																					p.K1587T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4760C	X						.						117.0	104.0	108.0					X																	118219434		1889	4105	5994	118103462	SO:0001583	missense	57481	exon12			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4760A>C	X.37:g.118219434T>G	ENSP00000384670:p.Lys1587Thr		118103462	NM_020721	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.27|10.27	1.302561|1.302561	0.23736|0.23736	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.19250	.|2.16	5.05|5.05	-5.02|-5.02	0.02982|0.02982	.|.	.|.	.|.	.|.	.|.	T|T	0.19248|0.19248	0.0462|0.0462	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B	.|0.25609	.|0.13	.|B	.|0.25884	.|0.064	T|T	0.13683|0.13683	-1.0500|-1.0500	5|9	.|0.48119	.|T	.|0.1	.|.	10.2306|10.2306	0.43253|0.43253	0.1128:0.1672:0.0:0.72|0.1128:0.1672:0.0:0.72	.|.	.|1587	.|Q9ULL0	.|K1210_HUMAN	D|T	993|1587	.|ENSP00000384670:K1587T	.|ENSP00000384670:K1587T	E|K	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118103462|118103462	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-2.662000|-2.662000	0.00850|0.00850	-1.780000|-1.780000	0.01279|0.01279	-1.860000|-1.860000	0.00561|0.00561	GAA|AAG		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
SEPT6	23157	broad.mit.edu	37	X	118797585	118797585	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:118797585G>A	ENST00000343984.5	-	3	465	c.201C>T	c.(199-201)ttC>ttT	p.F67F	SEPT6_ENST00000354228.4_Silent_p.F67F|SEPT6_ENST00000394616.4_Silent_p.F9F|SEPT6_ENST00000394617.2_Silent_p.F97F|SEPT6_ENST00000360156.7_Silent_p.F67F|SEPT6_ENST00000354416.3_Silent_p.F67F|SEPT6_ENST00000489216.1_Silent_p.F67F|SEPT6_ENST00000394610.1_Silent_p.F67F	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	67	Septin-type G.				cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)	p.F67F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GCTCCCCTTCGAATTTGGTGT	0.498			T	MLL	AML																																p.F67F			Dom	yes		X	Xq24	23157	septin 6		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C201T	X						.						212.0	200.0	204.0					X																	118797585		2203	4300	6503	118681613	SO:0001819	synonymous_variant	23157	exon3			D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"""Septins"""	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.201C>T	X.37:g.118797585G>A			118681613	NM_145799	Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Silent	SNP	ENST00000343984.5	37	CCDS14584.1																																																																																				0.498	SEPT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058059.1	NM_145802	
TMEM255A	55026	broad.mit.edu	37	X	119410801	119410801	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:119410801T>C	ENST00000309720.5	-	8	809	c.686A>G	c.(685-687)aAc>aGc	p.N229S	TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371369.4_Missense_Mutation_p.N205S|TMEM255A_ENST00000371352.1_Missense_Mutation_p.N65S	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	229						integral component of membrane (GO:0016021)		p.N229S(1)									GCCAACAATGTTGAGGATGGT	0.512																																					p.N229S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A686G	X						.						235.0	169.0	191.0					X																	119410801		2203	4300	6503	119294829	SO:0001583	missense	55026	exon8			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.686A>G	X.37:g.119410801T>C	ENSP00000310110:p.Asn229Ser		119294829	NM_017938	A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	ENST00000309720.5	37	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511365	0.85389	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.56776	0.44;0.44;0.44	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.87578	0.98;0.998	T	0.75969	-0.3130	10	0.46703	T	0.11	-14.5795	13.3151	0.60403	0.0:0.0:0.0:1.0	.	205;229	B1APR4;Q5JRV8	.;FA70A_HUMAN	S	229;205;65	ENSP00000310110:N229S;ENSP00000360420:N205S;ENSP00000360403:N65S	ENSP00000310110:N229S	N	-	2	0	FAM70A	119294829	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.698000	0.84413	1.737000	0.51674	0.481000	0.45027	AAC		0.512	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
C1GALT1C1	29071	broad.mit.edu	37	X	119760717	119760717	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:119760717G>A	ENST00000304661.5	-	2	543	c.305C>T	c.(304-306)tCt>tTt	p.S102F	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.S102F	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	102					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S102F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AACATTTTCAGAACTGAAGAA	0.363																																					p.S102F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C305T	X						.						69.0	69.0	69.0					X																	119760717		2203	4299	6502	119644745	SO:0001583	missense	29071	exon3			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.305C>T	X.37:g.119760717G>A	ENSP00000304364:p.Ser102Phe		119644745	NM_152692	A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	ENST00000304661.5	37	CCDS14602.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511767	0.64522	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.54279	0.58;0.58	5.32	5.32	0.75619	.	0.052211	0.85682	D	0.000000	T	0.74129	0.3676	M	0.87900	2.915	0.80722	D	1	D	0.60160	0.987	P	0.61477	0.889	T	0.78858	-0.2038	9	.	.	.	-13.8039	16.7077	0.85376	0.0:0.0:1.0:0.0	.	102	Q96EU7	C1GLC_HUMAN	F	102	ENSP00000304364:S102F;ENSP00000360363:S102F	.	S	-	2	0	C1GALT1C1	119644745	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.388000	0.97237	2.342000	0.79632	0.544000	0.68410	TCT		0.363	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058117.1	NM_152692	
GLUD2	2747	broad.mit.edu	37	X	120181914	120181914	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:120181914G>A	ENST00000328078.1	+	1	453	c.376G>A	c.(376-378)Gac>Aac	p.D126N		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	126					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.D126N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CCGGCGCGACGACGGCTCCTG	0.632																																					p.D126N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G376A	X						.						57.0	45.0	49.0					X																	120181914		2203	4294	6497	120009595	SO:0001583	missense	2747	exon1			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.376G>A	X.37:g.120181914G>A	ENSP00000327589:p.Asp126Asn		120009595	NM_012084	B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	0.737	-0.777613	0.02929	.	.	ENSG00000182890	ENST00000328078	D	0.96427	-4.01	1.8	-3.09	0.05331	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.055459	0.64402	D	0.000001	D	0.83695	0.5310	N	0.04959	-0.14	0.29528	N	0.852987	B	0.09022	0.002	B	0.10450	0.005	T	0.77332	-0.2627	10	0.02654	T	1	-4.1832	4.1167	0.10084	0.4269:0.3601:0.213:0.0	.	126	P49448	DHE4_HUMAN	N	126	ENSP00000327589:D126N	ENSP00000327589:D126N	D	+	1	0	GLUD2	120009595	1.000000	0.71417	0.000000	0.03702	0.012000	0.07955	3.037000	0.49775	-1.129000	0.02918	-0.412000	0.06146	GAC		0.632	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084	
THOC2	57187	broad.mit.edu	37	X	122747990	122747990	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:122747990T>G	ENST00000245838.8	-	34	4393	c.4362A>C	c.(4360-4362)gaA>gaC	p.E1454D	THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000355725.4_Missense_Mutation_p.E1454D|THOC2_ENST00000491737.1_Missense_Mutation_p.E1339D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1454	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.E1375D(1)|p.E1454D(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCTTGTCCATTTCTCTCTCCT	0.358																																					p.E1454D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A4362C	X						.						139.0	116.0	123.0					X																	122747990		1832	4067	5899	122575671	SO:0001583	missense	57187	exon34			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4362A>C	X.37:g.122747990T>G	ENSP00000245838:p.Glu1454Asp		122575671	NM_001081550	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.59|11.59	1.684669|1.684669	0.29872|0.29872	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000416618;ENST00000491737|ENST00000448128;ENST00000441692	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.156940|.	0.43416|.	D|.	0.000577|.	T|T	0.50990|0.50990	0.1648|0.1648	N|N	0.19112|0.19112	0.55|0.55	0.47037|0.47037	D|D	0.999297|0.999297	B|.	0.17465|.	0.022|.	B|.	0.14578|.	0.011|.	T|T	0.48592|0.48592	-0.9022|-0.9022	9|5	0.13470|.	T|.	0.59|.	-19.2567|-19.2567	15.2168|15.2168	0.73274|0.73274	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1454|.	Q8NI27|.	THOC2_HUMAN|.	D|T	1454;1454;43;1339|50;249	.|.	ENSP00000245838:E1454D|.	E|K	-|-	3|2	2|0	THOC2|THOC2	122575671|122575671	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.880000|2.880000	0.48530|0.48530	2.044000|2.044000	0.60594|0.60594	0.486000|0.486000	0.48141|0.48141	GAA|AAA		0.358	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
THOC2	57187	broad.mit.edu	37	X	122757735	122757735	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:122757735T>G	ENST00000245838.8	-	28	3437	c.3406A>C	c.(3406-3408)Aaa>Caa	p.K1136Q	THOC2_ENST00000355725.4_Missense_Mutation_p.K1136Q|THOC2_ENST00000491737.1_Missense_Mutation_p.K1021Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1136					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.K1136Q(1)|p.K1057Q(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCAAAACTTTTGGGTACCAA	0.393																																					p.K1136Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3406C	X						.						127.0	105.0	112.0					X																	122757735		1819	4067	5886	122585416	SO:0001583	missense	57187	exon28			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3406A>C	X.37:g.122757735T>G	ENSP00000245838:p.Lys1136Gln		122585416	NM_001081550	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	CCDS43988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.14|15.14	2.745575|2.745575	0.49151|0.49151	.|.	.|.	ENSG00000125676|ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737|ENST00000438358	.|.	.|.	.|.	5.9|5.9	5.9|5.9	0.94986|0.94986	THO complex, subunitTHOC2, C-terminal (1);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.61476|0.61476	0.2350|0.2350	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B|.	0.34241|.	0.444|.	B|.	0.38296|.	0.27|.	T|T	0.58515|0.58515	-0.7623|-0.7623	9|6	0.51188|.	T|.	0.08|.	-17.4229|-17.4229	15.2657|15.2657	0.73660|0.73660	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1136|.	Q8NI27|.	THOC2_HUMAN|.	Q|T	1136;1136;1021|208	.|.	ENSP00000245838:K1136Q|.	K|K	-|-	1|2	0|0	THOC2|THOC2	122585416|122585416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.040000|8.040000	0.89188|0.89188	1.988000|1.988000	0.58038|0.58038	0.481000|0.481000	0.45027|0.45027	AAA|AAA		0.393	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3		
FRMPD4	9758	broad.mit.edu	37	X	12632965	12632965	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:12632965C>T	ENST00000380682.1	+	4	893	c.387C>T	c.(385-387)agC>agT	p.S129S	7SK_ENST00000606842.1_RNA	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	129	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S119S(2)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AACCGGTCAGCGCTGCACCCA	0.522																																					p.S129S												.	.	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	c.C387T	X						.						113.0	98.0	103.0					X																	12632965		2203	4300	6503	12542886	SO:0001819	synonymous_variant	9758	exon4			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.387C>T	X.37:g.12632965C>T			12542886	NM_014728	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.522	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
FRMPD4	9758	broad.mit.edu	37	X	12708399	12708399	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:12708399C>T	ENST00000380682.1	+	8	1273	c.767C>T	c.(766-768)gCt>gTt	p.A256V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	256	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A246V(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACAGAAGGGGCTGGAACGAAG	0.488																																					p.A256V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C767T	X						.						164.0	131.0	142.0					X																	12708399		2203	4300	6503	12618320	SO:0001583	missense	9758	exon8			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.767C>T	X.37:g.12708399C>T	ENSP00000370057:p.Ala256Val		12618320	NM_014728	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921302	0.52653	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.74315	-0.83	5.14	4.28	0.50868	Band 4.1 domain (1);FERM domain (1);	0.379769	0.27189	N	0.020502	T	0.58963	0.2159	N	0.14661	0.345	0.31237	N	0.695687	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.61247	-0.7101	10	0.62326	D	0.03	.	13.0621	0.59012	0.0:0.92:0.0:0.08	.	248;256	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	V	256;247;245	ENSP00000370057:A256V	ENSP00000304583:A245V	A	+	2	0	FRMPD4	12618320	0.963000	0.33076	0.305000	0.25099	0.923000	0.55619	4.509000	0.60448	1.077000	0.40990	0.600000	0.82982	GCT		0.488	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
STAG2	10735	broad.mit.edu	37	X	123185021	123185021	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:123185021T>C	ENST00000371160.1	+	12	1358	c.1068T>C	c.(1066-1068)taT>taC	p.Y356Y	STAG2_ENST00000371157.3_Silent_p.Y356Y|STAG2_ENST00000371144.3_Silent_p.Y356Y|STAG2_ENST00000218089.9_Silent_p.Y356Y|STAG2_ENST00000371145.3_Silent_p.Y356Y|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Silent_p.Y287Y	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	356	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.Y356Y(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GGCTTTATTATAACAAAGAGC	0.299																																					p.Y356Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1068C	X						.						34.0	35.0	34.0					X																	123185021		2202	4286	6488	123012702	SO:0001819	synonymous_variant	10735	exon12			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1068T>C	X.37:g.123185021T>C			123012702	NM_001042750	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	CCDS14607.1																																																																																				0.299	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
TLR8	51311	broad.mit.edu	37	X	12937553	12937553	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:12937553C>T	ENST00000218032.6	+	2	481	c.394C>T	c.(394-396)Ctt>Ttt	p.L132F	TLR8_ENST00000311912.5_Missense_Mutation_p.L150F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	132					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.L150F(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	GGAGTTACTGCTTGAAGACAA	0.408																																					p.L132F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C394T	X						.						91.0	93.0	92.0					X																	12937553		2203	4300	6503	12847474	SO:0001583	missense	51311	exon2			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.394C>T	X.37:g.12937553C>T	ENSP00000218032:p.Leu132Phe		12847474	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231639	0.39399	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.02103	4.45;4.45	5.09	5.09	0.68999	.	0.000000	0.35870	N	0.002937	T	0.11580	0.0282	M	0.88570	2.965	0.45621	D	0.998559	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.974	T	0.00228	-1.1899	10	0.87932	D	0	.	4.4282	0.11515	0.2129:0.6365:0.0:0.1506	.	132;150	Q9NR97;D1CS70	TLR8_HUMAN;.	F	132;150	ENSP00000218032:L132F;ENSP00000312082:L150F	ENSP00000218032:L132F	L	+	1	0	TLR8	12847474	0.000000	0.05858	0.805000	0.32314	0.022000	0.10575	-0.190000	0.09615	2.120000	0.65058	0.523000	0.50628	CTT		0.408	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
TLR8	51311	broad.mit.edu	37	X	12939795	12939795	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:12939795T>C	ENST00000218032.6	+	2	2723	c.2636T>C	c.(2635-2637)tTc>tCc	p.F879S	TLR8_ENST00000311912.5_Missense_Mutation_p.F897S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	879	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.F897S(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TCCCAAACTTTCTATGATGCT	0.418																																					p.F879S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2636C	X						.						152.0	145.0	147.0					X																	12939795		2203	4300	6503	12849716	SO:0001583	missense	51311	exon2			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2636T>C	X.37:g.12939795T>C	ENSP00000218032:p.Phe879Ser		12849716	NM_138636	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.040502	0.55003	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.02323	4.34;4.34	5.97	5.97	0.96955	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.000000	0.41097	D	0.000953	T	0.04724	0.0128	N	0.11313	0.125	0.36922	D	0.89144	D;D	0.67145	0.996;0.991	P;P	0.58970	0.849;0.818	T	0.57694	-0.7767	10	0.51188	T	0.08	.	12.071	0.53616	0.0:0.0:0.1514:0.8486	.	879;897	Q9NR97;D1CS70	TLR8_HUMAN;.	S	879;897	ENSP00000218032:F879S;ENSP00000312082:F897S	ENSP00000218032:F879S	F	+	2	0	TLR8	12849716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.574000	0.53863	2.020000	0.59435	0.486000	0.48141	TTC		0.418	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
SMARCA1	6594	broad.mit.edu	37	X	128605211	128605211	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:128605211C>T	ENST00000371122.4	-	20	2664	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	SMARCA1_ENST00000371121.3_Silent_p.E833E|SMARCA1_ENST00000371123.1_Silent_p.E833E	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	845					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E845E(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTCTTCAGTCTCTTCTGGTG	0.343																																					p.E845E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2535A	X						.						143.0	131.0	135.0					X																	128605211		2203	4300	6503	128432892	SO:0001819	synonymous_variant	6594	exon20			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2535G>A	X.37:g.128605211C>T			128432892	NM_003069	Q5JV41|Q5JV42	Silent	SNP	ENST00000371122.4	37	CCDS14612.1																																																																																				0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
XPNPEP2	7512	broad.mit.edu	37	X	128902350	128902350	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:128902350C>T	ENST00000371106.3	+	21	2106	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	638						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.F638F(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TAGAGGAGTTCGAGTGGCTTC	0.612																																					p.F638F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1914T	X						.						60.0	57.0	58.0					X																	128902350		2203	4300	6503	128730031	SO:0001819	synonymous_variant	7512	exon21			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1914C>T	X.37:g.128902350C>T			128730031	NM_003399	A0AV16|O75994	Silent	SNP	ENST00000371106.3	37	CCDS14613.1																																																																																				0.612	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399	
ELF4	2000	broad.mit.edu	37	X	129215263	129215263	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:129215263G>A	ENST00000308167.5	-	2	421	c.42C>T	c.(40-42)ttC>ttT	p.F14F	ELF4_ENST00000335997.7_Silent_p.F14F	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CGTTGCTTGCGAACTCAAAGA	0.527			T	ERG	AML																																p.F14F			Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	.	.	0			c.C42T	X						.						238.0	183.0	202.0					X																	129215263		2203	4300	6503	129042944	SO:0001819	synonymous_variant	2000	exon2			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.42C>T	X.37:g.129215263G>A			129042944	NM_001421		Silent	SNP	ENST00000308167.5	37	CCDS14617.1																																																																																				0.527	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421	
ARHGAP36	158763	broad.mit.edu	37	X	130219643	130219643	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:130219643G>A	ENST00000276211.5	+	8	1382	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R334H|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R210H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	346	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R346H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACCCTGGAGCGTCTGCTGAAG	0.488																																					p.R346H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1037A	X						.						188.0	188.0	188.0					X																	130219643		2203	4300	6503	130047324	SO:0001583	missense	158763	exon8				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1037G>A	X.37:g.130219643G>A	ENSP00000276211:p.Arg346His		130047324	NM_144967	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708928	0.68615	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.98	4.12	0.48240	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.47093	D	0.000248	T	0.23766	0.0575	L	0.39147	1.195	0.46356	D	0.999007	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.60886	0.809;0.809;0.88	T	0.04017	-1.0984	10	0.15952	T	0.53	.	9.5105	0.39074	0.0:0.0:0.79:0.2099	.	315;334;346	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	H	346;334;315;210	ENSP00000276211:R346H;ENSP00000359960:R334H;ENSP00000408515:R315H;ENSP00000359959:R210H	ENSP00000276211:R346H	R	+	2	0	ARHGAP36	130047324	1.000000	0.71417	0.983000	0.44433	0.897000	0.52465	5.409000	0.66374	1.070000	0.40811	0.600000	0.82982	CGT		0.488	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
IGSF1	3547	broad.mit.edu	37	X	130415222	130415222	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:130415222A>G	ENST00000361420.3	-	9	1695	c.1616T>C	c.(1615-1617)aTa>aCa	p.I539T	IGSF1_ENST00000370903.3_Missense_Mutation_p.I539T|IGSF1_ENST00000370910.1_Missense_Mutation_p.I530T|IGSF1_ENST00000370904.1_Missense_Mutation_p.I530T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	539					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.I539T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTTCCACCTTATCCACAGCAC	0.493																																					p.I530T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1589C	X						.						250.0	213.0	226.0					X																	130415222		2203	4300	6503	130242903	SO:0001583	missense	3547	exon8			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1616T>C	X.37:g.130415222A>G	ENSP00000355010:p.Ile539Thr		130242903	NM_001170962	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910887	0.52439	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00730	5.79;5.8;5.79;5.77	4.1	4.1	0.47936	.	0.646713	0.13968	N	0.350387	T	0.00637	0.0021	N	0.14661	0.345	0.33977	D	0.647496	B;B	0.32245	0.014;0.361	B;B	0.32864	0.021;0.154	T	0.56318	-0.7999	10	0.16420	T	0.52	.	8.5889	0.33674	1.0:0.0:0.0:0.0	.	530;539	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	T	530;539;530;539	ENSP00000359947:I530T;ENSP00000355010:I539T;ENSP00000359941:I530T;ENSP00000359940:I539T	ENSP00000355010:I539T	I	-	2	0	IGSF1	130242903	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	3.595000	0.54016	1.848000	0.53677	0.356000	0.21956	ATA		0.493	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1		
OR13H1	347468	broad.mit.edu	37	X	130678856	130678856	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:130678856A>G	ENST00000338616.3	+	1	907	c.809A>G	c.(808-810)gAc>gGc	p.D270G		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D270G(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CCTGACCAGGACAAGTTTATC	0.433																																					p.D270G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A809G	X						.						113.0	105.0	108.0					X																	130678856		2203	4300	6503	130506537	SO:0001583	missense	347468	exon1				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.809A>G	X.37:g.130678856A>G	ENSP00000340748:p.Asp270Gly		130506537	NM_001004486	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	A	5.452	0.268571	0.10349	.	.	ENSG00000171054	ENST00000338616	T	0.00245	8.45	4.87	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.169056	0.27841	U	0.017638	T	0.00144	0.0004	L	0.49571	1.57	0.27604	N	0.948884	B	0.19817	0.039	B	0.25140	0.058	T	0.12604	-1.0541	10	0.07482	T	0.82	.	7.7909	0.29119	0.8998:0.0:0.1002:0.0	.	270	Q8NG92	O13H1_HUMAN	G	270	ENSP00000340748:D270G	ENSP00000340748:D270G	D	+	2	0	OR13H1	130506537	0.002000	0.14202	0.072000	0.20136	0.247000	0.25773	1.687000	0.37680	0.697000	0.31718	0.481000	0.45027	GAC		0.433	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1		
STK26	51765	broad.mit.edu	37	X	131202297	131202297	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:131202297T>G	ENST00000354719.6	+	5	601	c.385T>G	c.(385-387)Tta>Gta	p.L129V	MST4_ENST00000481105.1_Missense_Mutation_p.L151V|MST4_ENST00000496850.1_Missense_Mutation_p.L129V|MST4_ENST00000394334.2_Missense_Mutation_p.L129V|MST4_ENST00000394335.2_Missense_Mutation_p.L52V														p.L129V(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AAAGGAAATTTTAAAAGGTCT	0.358																																					p.L52V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T154G	X						.						71.0	71.0	71.0					X																	131202297		2203	4299	6502	131029978	SO:0001583	missense	51765	exon4																														ENST00000354719.6:c.385T>G	X.37:g.131202297T>G	ENSP00000346755:p.Leu129Val		131029978	NM_001042453		Missense_Mutation	SNP	ENST00000354719.6	37		.	.	.	.	.	.	.	.	.	.	T	16.32	3.089931	0.55968	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.74	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000095	T	0.40546	0.1121	L	0.35542	1.07	0.58432	D	0.999999	D;D;P;D;D	0.76494	0.999;0.993;0.951;0.991;0.998	D;D;P;D;D	0.70016	0.967;0.937;0.88;0.94;0.934	T	0.24728	-1.0152	10	0.87932	D	0	.	8.689	0.34256	0.0:0.2154:0.0:0.7846	.	151;129;129;52;129	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	V	129;151;129;52;129	ENSP00000377867:L129V;ENSP00000418753:L151V;ENSP00000346755:L129V;ENSP00000377868:L52V;ENSP00000419702:L129V	ENSP00000346755:L129V	L	+	1	2	AL109749.1	131029978	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.163000	0.31798	0.798000	0.33994	0.486000	0.48141	TTA		0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2		
ATXN3L	92552	broad.mit.edu	37	X	13337101	13337101	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:13337101G>A	ENST00000380622.2	-	1	1417	c.953C>T	c.(952-954)tCg>tTg	p.S318L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	318					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.S318L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AATTGCTCTCGAACTTGTTGT	0.443																																					p.S318L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C953T	X						.						188.0	154.0	164.0					X																	13337101		1568	3582	5150	13247022	SO:0001583	missense	92552	exon1				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.953C>T	X.37:g.13337101G>A	ENSP00000369996:p.Ser318Leu		13247022	NM_001135995	B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	G	5.728	0.318810	0.10845	.	.	ENSG00000123594	ENST00000380622	T	0.64803	-0.12	0.793	-0.118	0.13547	.	0.624518	0.15161	N	0.277163	T	0.40979	0.1139	N	0.20986	0.625	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.19160	-1.0314	9	0.41790	T	0.15	.	.	.	.	.	318	Q9H3M9	ATX3L_HUMAN	L	318	ENSP00000369996:S318L	ENSP00000369996:S318L	S	-	2	0	ATXN3L	13247022	0.033000	0.19621	0.003000	0.11579	0.000000	0.00434	0.449000	0.21744	-0.134000	0.11516	-0.525000	0.04345	TCG		0.443	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995	
HS6ST2	90161	broad.mit.edu	37	X	131762446	131762446	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:131762446C>T	ENST00000370836.2	-	4	2038	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P	HS6ST2_ENST00000370833.2_Silent_p.P435P|HS6ST2_ENST00000406696.3_Silent_p.P267P|HS6ST2_ENST00000521489.1_Silent_p.P581P	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	541					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)	p.P395P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					gattctgattcggattctggc	0.512																																					p.P581P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1743A	X						.						84.0	74.0	77.0					X																	131762446		1915	4114	6029	131590127	SO:0001819	synonymous_variant	90161	exon6			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1623G>A	X.37:g.131762446C>T			131590127	NM_001077188	B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Silent	SNP	ENST00000370836.2	37	CCDS48169.1																																																																																				0.512	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	NM_147174	
CT45A5	441521	broad.mit.edu	37	X	134947909	134947909	+	Missense_Mutation	SNP	C	C	T	rs143395460	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:134947909C>T	ENST00000463085.2	-	3	505	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000370724.3_Missense_Mutation_p.R139Q|CT45A5_ENST00000491480.1_Missense_Mutation_p.R139Q			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	139								p.R139Q(2)		endometrium(1)|large_intestine(2)|lung(6)	9						CTACTTACTTCGTCCAAGGCA	0.388																																					p.R139Q												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G416A	X						.	C	GLN/ARG,GLN/ARG	1,3815		0,1,1631,552	177.0	149.0	159.0		416,416	0.5	0.0	X	dbSNP_134	159	1,6692		0,1,2427,1837	no	missense,missense	CT45A5	NM_001007551.3,NM_001172288.1	43,43	0,2,4058,2389	TT,TC,CC,C		0.0149,0.0262,0.019	benign,benign	139/190,139/190	134947909	2,10507	2184	4265	6449	134775575	SO:0001583	missense	441521	exon3			AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.416G>A	X.37:g.134947909C>T	ENSP00000424778:p.Arg139Gln		134775575	NM_001172288	A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	C	3.217	-0.160273	0.06502	2.62E-4	1.49E-4	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.59083	0.29;0.29	2.4	0.51	0.16983	.	0.576836	0.16638	N	0.205762	T	0.31575	0.0801	N	0.12527	0.23	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11324	-1.0592	10	0.31617	T	0.26	0.0444	4.5971	0.12334	0.0:0.6357:0.0:0.3643	.	139	Q6NSH3	CT455_HUMAN	Q	139	ENSP00000359759:R139Q;ENSP00000425997:R139Q	ENSP00000359759:R139Q	R	-	2	0	CT45A5	134775575	0.761000	0.28439	0.025000	0.17156	0.038000	0.13279	-0.023000	0.12456	-0.110000	0.12022	-0.563000	0.04171	CGA		0.388	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551	
SAGE1	55511	broad.mit.edu	37	X	134988659	134988659	+	Missense_Mutation	SNP	C	C	T	rs181135819		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:134988659C>T	ENST00000370709.3	+	6	685	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	SAGE1_ENST00000535938.1_Missense_Mutation_p.R229C|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Missense_Mutation_p.R229C			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	229						nucleus (GO:0005634)		p.R229C(2)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCGACCACGGCGTATTAATAT	0.418													c|||	1	0.000264901	0.0008	0.0	3775	,	,		19682	0.0		0.0	False		,,,				2504	0.0				p.R229C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C685T	X						.						192.0	162.0	172.0					X																	134988659		2203	4300	6503	134816325	SO:0001583	missense	55511	exon7			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.685C>T	X.37:g.134988659C>T	ENSP00000359743:p.Arg229Cys		134816325	NM_018666	Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	CCDS14652.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.59	1.684607	0.29872	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.34072	1.38;1.38;1.38	1.18	-0.896	0.10557	.	.	.	.	.	T	0.23054	0.0557	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.51999	0.687	T	0.11518	-1.0584	9	0.51188	T	0.08	.	3.8932	0.09128	0.0:0.4601:0.0:0.5399	.	229	Q9NXZ1	SAGE1_HUMAN	C	229	ENSP00000323191:R229C;ENSP00000445959:R229C;ENSP00000359743:R229C	ENSP00000323191:R229C	R	+	1	0	SAGE1	134816325	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.545000	0.06069	-0.421000	0.07416	0.287000	0.19450	CGT		0.418	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
GPR112	139378	broad.mit.edu	37	X	135428072	135428072	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:135428072T>A	ENST00000394143.1	+	6	2498	c.2207T>A	c.(2206-2208)tTt>tAt	p.F736Y	GPR112_ENST00000370652.1_Missense_Mutation_p.F736Y|GPR112_ENST00000412101.1_Missense_Mutation_p.F531Y|GPR112_ENST00000394141.1_Missense_Mutation_p.F531Y|GPR112_ENST00000287534.4_Missense_Mutation_p.F673Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	736					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F736Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCACCATGGTTTGCTAATTTC	0.393																																					p.F736Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2207A	X						.						90.0	69.0	76.0					X																	135428072		2203	4300	6503	135255738	SO:0001583	missense	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2207T>A	X.37:g.135428072T>A	ENSP00000377699:p.Phe736Tyr		135255738	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	t	8.052	0.766142	0.15983	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.69;1.55	2.8	1.54	0.23209	.	.	.	.	.	T	0.14874	0.0359	N	0.12182	0.205	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.0	B;B;B	0.12837	0.008;0.003;0.0	T	0.28554	-1.0040	9	0.27082	T	0.32	.	5.0316	0.14413	0.268:0.0:0.0:0.732	.	673;531;736	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	736;736;531;673;531	ENSP00000377699:F736Y;ENSP00000359686:F736Y;ENSP00000416526:F531Y;ENSP00000287534:F673Y;ENSP00000377697:F531Y	ENSP00000287534:F673Y	F	+	2	0	GPR112	135255738	0.297000	0.24408	0.000000	0.03702	0.200000	0.23975	0.541000	0.23207	0.164000	0.19529	0.144000	0.16011	TTT		0.393	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu	37	X	135431054	135431054	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:135431054A>G	ENST00000394143.1	+	6	5480	c.5189A>G	c.(5188-5190)aAc>aGc	p.N1730S	GPR112_ENST00000370652.1_Missense_Mutation_p.N1730S|GPR112_ENST00000412101.1_Missense_Mutation_p.N1525S|GPR112_ENST00000394141.1_Missense_Mutation_p.N1525S|GPR112_ENST00000287534.4_Missense_Mutation_p.N1667S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1730					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N1730S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTACTGTGAACAGTGGTACA	0.423																																					p.N1730S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A5189G	X						.						129.0	120.0	123.0					X																	135431054		2203	4300	6503	135258720	SO:0001583	missense	139378	exon6			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5189A>G	X.37:g.135431054A>G	ENSP00000377699:p.Asn1730Ser		135258720	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.198498	0.00299	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.24538	1.88;1.88;1.85;2.01;1.85	3.03	1.16	0.20824	.	.	.	.	.	T	0.08268	0.0206	N	0.02247	-0.625	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.0	T	0.37220	-0.9715	9	0.18276	T	0.48	.	4.0852	0.09943	0.3841:0.0:0.6159:0.0	.	1667;1525;1730	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	1730;1730;1525;1667;1525	ENSP00000377699:N1730S;ENSP00000359686:N1730S;ENSP00000416526:N1525S;ENSP00000287534:N1667S;ENSP00000377697:N1525S	ENSP00000287534:N1667S	N	+	2	0	GPR112	135258720	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	-0.647000	0.05397	0.468000	0.27243	-0.410000	0.06199	AAC		0.423	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu	37	X	135441480	135441480	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:135441480G>A	ENST00000394143.1	+	11	7301	c.7010G>A	c.(7009-7011)aGc>aAc	p.S2337N	GPR112_ENST00000370652.1_Missense_Mutation_p.S2337N|GPR112_ENST00000412101.1_Missense_Mutation_p.S2132N|GPR112_ENST00000394141.1_Missense_Mutation_p.S2132N|GPR112_ENST00000287534.4_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2337					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S2337N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATAAAAGCCAGCTCTTCCTTA	0.373																																					p.S2337N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7010A	X						.						174.0	160.0	165.0					X																	135441480		2203	4300	6503	135269146	SO:0001583	missense	139378	exon11			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7010G>A	X.37:g.135441480G>A	ENSP00000377699:p.Ser2337Asn		135269146	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524503	0.13066	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	T;T;T;T	0.29917	1.59;1.59;1.55;1.55	6.08	0.86	0.19042	.	.	.	.	.	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	B;B	0.19445	0.001;0.036	B;B	0.15052	0.001;0.012	T	0.34576	-0.9823	9	0.15066	T	0.55	.	4.5192	0.11950	0.5095:0.3147:0.1758:0.0	.	2132;2337	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	N	2337;2337;2132;2132	ENSP00000377699:S2337N;ENSP00000359686:S2337N;ENSP00000416526:S2132N;ENSP00000377697:S2132N	ENSP00000359686:S2337N	S	+	2	0	GPR112	135269146	0.207000	0.23482	0.476000	0.27291	0.669000	0.39330	0.175000	0.16762	-0.197000	0.10350	-0.340000	0.08031	AGC		0.373	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GPR112	139378	broad.mit.edu	37	X	135487944	135487944	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:135487944T>C	ENST00000394143.1	+	23	9039	c.8748T>C	c.(8746-8748)gtT>gtC	p.V2916V	GPR112_ENST00000370652.1_Silent_p.V2916V|GPR112_ENST00000412101.1_Silent_p.V2711V|GPR112_ENST00000394141.1_Silent_p.V2711V|GPR112_ENST00000287534.4_Silent_p.V2669V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2916					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V2916V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGCACTGTTCTTGTTCAAC	0.403																																					p.V2916V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T8748C	X						.						166.0	142.0	150.0					X																	135487944		2203	4300	6503	135315610	SO:0001819	synonymous_variant	139378	exon23			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8748T>C	X.37:g.135487944T>C			135315610	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.403	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
TCEANC	170082	broad.mit.edu	37	X	13681168	13681168	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:13681168C>A	ENST00000380600.1	+	2	628	c.541C>A	c.(541-543)Ctt>Att	p.L181I	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000545566.1_Missense_Mutation_p.L181I|TCEANC_ENST00000314720.4_Missense_Mutation_p.L211I|TCEANC_ENST00000544987.1_Missense_Mutation_p.L181I			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	181	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L181I(2)		central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						CATAGAGCTTCTTTACGCAGC	0.433																																					p.L211I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C631A	X						.						118.0	110.0	112.0					X																	13681168		1913	4119	6032	13591089	SO:0001583	missense	170082	exon4				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.541C>A	X.37:g.13681168C>A	ENSP00000369974:p.Leu181Ile		13591089	NM_152634	A6NI06|B2RDM3	Missense_Mutation	SNP	ENST00000380600.1	37		.	.	.	.	.	.	.	.	.	.	C	16.43	3.122264	0.56613	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.26	4.39	0.52855	Transcription elongation factor S-II, central domain (4);	0.095186	0.41097	D	0.000956	T	0.70378	0.3217	M	0.72624	2.21	0.35584	D	0.806557	D;D	0.57899	0.976;0.981	P;P	0.56514	0.698;0.8	T	0.76870	-0.2799	10	0.44086	T	0.13	-5.7071	9.6544	0.39917	0.0:0.8357:0.0:0.1643	.	211;181	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	I	181;181;211;181	ENSP00000438952:L181I;ENSP00000440038:L181I;ENSP00000313886:L211I;ENSP00000369974:L181I	ENSP00000313886:L211I	L	+	1	0	TCEANC	13591089	0.992000	0.36948	0.019000	0.16419	0.775000	0.43874	1.701000	0.37825	1.114000	0.41781	0.600000	0.82982	CTT		0.433	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055796.1	NM_152634	
VGLL1	51442	broad.mit.edu	37	X	135632931	135632931	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:135632931G>T	ENST00000370634.3	+	4	809	c.639G>T	c.(637-639)aaG>aaT	p.K213N	VGLL1_ENST00000470358.1_3'UTR|MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.K213N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					TTCTAGATAAGAAACTATATG	0.453																																					p.K213N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G639T	X						.						127.0	122.0	124.0					X																	135632931		2203	4300	6503	135460597	SO:0001583	missense	51442	exon4			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.639G>T	X.37:g.135632931G>T	ENSP00000359668:p.Lys213Asn		135460597	NM_016267	Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	CCDS14658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.634|4.634	0.117891|0.117891	0.08881|0.08881	.|.	.|.	ENSG00000102243|ENSG00000102243	ENST00000440515|ENST00000370634;ENST00000430688;ENST00000456412	.|T;T	.|0.55588	.|0.51;0.69	5.49|5.49	1.73|1.73	0.24493|0.24493	.|.	.|0.908894	.|0.09610	.|N	.|0.778976	.|T	.|0.42539	.|0.1207	L|L	0.27053|0.27053	0.805|0.805	0.27101|0.27101	N|N	0.962611|0.962611	.|P	.|0.47841	.|0.901	.|P	.|0.47134	.|0.539	.|T	.|0.31916	.|-0.9926	.|10	.|0.87932	.|D	.|0	-14.9394|-14.9394	3.8489|3.8489	0.08946|0.08946	0.265:0.0:0.5662:0.1689|0.265:0.0:0.5662:0.1689	.|.	.|213	.|Q99990	.|VGLL1_HUMAN	X|N	131|213;70;15	.|ENSP00000359668:K213N;ENSP00000388868:K15N	.|ENSP00000359668:K213N	E|K	+|+	1|3	0|2	VGLL1|VGLL1	135460597|135460597	1.000000|1.000000	0.71417|0.71417	0.201000|0.201000	0.23476|0.23476	0.380000|0.380000	0.30137|0.30137	1.166000|1.166000	0.31834|0.31834	0.015000|0.015000	0.14971|0.14971	0.600000|0.600000	0.82982|0.82982	GAA|AAG		0.453	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267	
CSF2RA	1438	broad.mit.edu	37	X	1407431	1407431	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:1407431C>T	ENST00000381524.3	+	5	425	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.S80L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.S80L|CSF2RA_ENST00000355432.3_Missense_Mutation_p.S80L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.S80L|CSF2RA_ENST00000355805.2_Missense_Mutation_p.S80L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.S80L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.S80L|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.S80L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	80					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AACGAATGTTCGTGCACATTT	0.443																																					p.S80L	Esophageal Squamous(131;723 1707 25334 40494 41806)											.	.	0			c.C239T	X						.						370.0	336.0	348.0					X																	1407431		2203	4296	6499	1367431	SO:0001583	missense	1438	exon5			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.239C>T	X.37:g.1407431C>T	ENSP00000370935:p.Ser80Leu		1367431	NM_172245	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.686631	0.00738	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000381524;ENST00000412290;ENST00000419094;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;T;T;D;T;T;D;D	0.94092	-3.05;-3.05;-3.35;-3.05;0.87;1.86;-3.08;0.85;1.17;-2.92;-3.35	0.912	-1.82	0.07857	.	3.277440	0.02501	U	0.090511	D	0.82852	0.5127	.	.	.	0.09310	N	0.999997	P;P;P;P;P;P	0.52170	0.951;0.918;0.951;0.882;0.951;0.813	B;B;B;B;B;B	0.39185	0.217;0.164;0.217;0.293;0.217;0.117	T	0.76955	-0.2767	9	0.11182	T	0.66	.	2.2094	0.03944	0.4041:0.3273:0.2685:0.0	.	80;80;80;80;80;80	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	L	80	ENSP00000370940:S80L;ENSP00000416437:S80L;ENSP00000354836:S80L;ENSP00000370935:S80L;ENSP00000410667:S80L;ENSP00000397452:S80L;ENSP00000370920:S80L;ENSP00000348058:S80L;ENSP00000347606:S80L;ENSP00000394227:S80L;ENSP00000370911:S80L	ENSP00000347606:S80L	S	+	2	0	CSF2RA	1367431	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	-0.187000	0.09656	-0.946000	0.03677	-0.910000	0.02820	TCG		0.443	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
GPR101	83550	broad.mit.edu	37	X	136112552	136112552	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:136112552C>T	ENST00000298110.1	-	1	1281	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	428						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.E428K(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACCTGGGTTTCGACATCCACC	0.502																																					p.E428K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1282A	X						.						90.0	78.0	82.0					X																	136112552		2203	4300	6503	135940218	SO:0001583	missense	83550	exon1			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1282G>A	X.37:g.136112552C>T	ENSP00000298110:p.Glu428Lys		135940218	NM_054021	Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	5.960	0.361191	0.11296	.	.	ENSG00000165370	ENST00000298110	T	0.71817	-0.6	5.04	-0.541	0.11858	GPCR, rhodopsin-like superfamily (1);	0.851711	0.09582	N	0.782736	T	0.51126	0.1656	N	0.19112	0.55	0.24748	N	0.992994	B	0.20780	0.048	B	0.16722	0.016	T	0.28364	-1.0046	10	0.08599	T	0.76	-0.2529	12.1468	0.54028	0.0:0.651:0.2253:0.1237	.	428	Q96P66	GP101_HUMAN	K	428	ENSP00000298110:E428K	ENSP00000298110:E428K	E	-	1	0	GPR101	135940218	0.977000	0.34250	0.895000	0.35142	0.115000	0.19883	0.060000	0.14342	-0.050000	0.13356	-0.354000	0.07668	GAA		0.502	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1		
F9	2158	broad.mit.edu	37	X	138643994	138643994	+	Nonsense_Mutation	SNP	C	C	T	rs137852261		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:138643994C>T	ENST00000218099.2	+	8	1157	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	F9_ENST00000394090.2_Nonsense_Mutation_p.R346*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	384	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> L (in THPH8; factor IX Padua; higher specific activity than wild-type). {ECO:0000269|PubMed:19846852}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.R384*(3)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CACATGTCTTCGATCTACAAA	0.463																																					p.R384X												.	.	3	Substitution - Nonsense(3)	large_intestine(2)|endometrium(1)	c.C1150T	X	GRCh37	CM940671	F9	M	rs137852261	.						113.0	101.0	105.0					X																	138643994		2203	4300	6503	138471660	SO:0001587	stop_gained	2158	exon8			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1150C>T	X.37:g.138643994C>T	ENSP00000218099:p.Arg384*		138471660	NM_000133	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	ENST00000218099.2	37	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018508	0.75275	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.66	3.83	0.44106	.	0.451696	0.25654	N	0.029189	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5754	0.56362	0.5922:0.4078:0.0:0.0	.	.	.	.	X	384;346	.	ENSP00000218099:R384X	R	+	1	2	F9	138471660	0.003000	0.15002	0.992000	0.48379	0.799000	0.45148	0.769000	0.26604	0.492000	0.27815	0.600000	0.82982	CGA		0.463	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		
MCF2	4168	broad.mit.edu	37	X	138708885	138708885	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:138708885T>G	ENST00000370576.4	-	5	678	c.469A>C	c.(469-471)Aaa>Caa	p.K157Q	MCF2_ENST00000370578.4_Missense_Mutation_p.K302Q|MCF2_ENST00000338585.6_Missense_Mutation_p.K157Q|MCF2_ENST00000520602.1_Missense_Mutation_p.K217Q|MCF2_ENST00000370573.4_Missense_Mutation_p.K157Q|MCF2_ENST00000414978.1_Missense_Mutation_p.K217Q|MCF2_ENST00000519895.1_Missense_Mutation_p.K217Q|MCF2_ENST00000536274.1_Missense_Mutation_p.K118Q	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	157					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K157Q(1)|p.K217Q(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGCAGAATTTTTCCTTCTTTG	0.403																																					p.K217Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A649C	X						.						135.0	122.0	127.0					X																	138708885		2203	4300	6503	138536551	SO:0001583	missense	4168	exon8				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.469A>C	X.37:g.138708885T>G	ENSP00000359608:p.Lys157Gln		138536551	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	t	13.64	2.298515	0.40694	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	4.42	4.42	0.53409	.	0.465680	0.25140	N	0.032840	T	0.32882	0.0844	L	0.43152	1.355	0.27015	N	0.964609	B;P;B;B;B;B;P;B	0.40332	0.014;0.59;0.024;0.014;0.024;0.014;0.713;0.014	B;B;B;B;B;B;B;B	0.41764	0.01;0.201;0.022;0.01;0.022;0.017;0.366;0.01	T	0.15009	-1.0452	10	0.06625	T	0.88	.	10.4479	0.44505	0.0:0.0:0.0:1.0	.	217;302;118;157;157;302;157;157	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	Q	217;157;118;302;217;217;157;157	ENSP00000427745:K217Q;ENSP00000359608:K157Q;ENSP00000438155:K118Q;ENSP00000359610:K302Q;ENSP00000397055:K217Q;ENSP00000430276:K217Q;ENSP00000359605:K157Q;ENSP00000342204:K157Q	ENSP00000342204:K157Q	K	-	1	0	MCF2	138536551	0.997000	0.39634	0.994000	0.49952	0.997000	0.91878	3.693000	0.54735	1.544000	0.49359	0.483000	0.47432	AAA		0.403	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
ATP11C	286410	broad.mit.edu	37	X	138864829	138864829	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:138864829C>A	ENST00000327569.3	-	18	1936	c.1838G>T	c.(1837-1839)aGa>aTa	p.R613I	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.R613I|ATP11C_ENST00000370557.1_Missense_Mutation_p.R610I|ATP11C_ENST00000359686.2_Missense_Mutation_p.R613I|ATP11C_ENST00000361648.2_Missense_Mutation_p.R613I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	613					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R613I(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TCTGTTAATTCTTTCATAATC	0.343																																					p.R613I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1838T	X						.						94.0	83.0	87.0					X																	138864829		2203	4299	6502	138692495	SO:0001583	missense	286410	exon18			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1838G>T	X.37:g.138864829C>A	ENSP00000332756:p.Arg613Ile		138692495	NM_001010986	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.78|12.78	2.039661|2.039661	0.35989|0.35989	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000422228|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.|T;T;T;T;T	.|0.67171	.|-0.25;-0.25;-0.25;-0.25;-0.25	5.68|5.68	-3.49|-3.49	0.04724|0.04724	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.896184	.|0.09878	.|N	.|0.744063	.|T	.|0.38558	.|0.1045	N|N	0.12422|0.12422	0.21|0.21	0.34008|0.34008	D|D	0.651166|0.651166	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.08055	.|0.003;0.003	.|T	.|0.22765	.|-1.0207	.|10	.|0.51188	.|T	.|0.08	.|.	1.0396|1.0396	0.01556|0.01556	0.29:0.2426:0.2832:0.1842|0.29:0.2426:0.2832:0.1842	.|.	.|613;613	.|Q8NB49-3;Q8NB49	.|.;AT11C_HUMAN	X|I	165|610;613;613;613;613	.|ENSP00000359588:R610I;ENSP00000355165:R613I;ENSP00000332756:R613I;ENSP00000359574:R613I;ENSP00000352715:R613I	.|ENSP00000332756:R613I	E|R	-|-	1|2	0|0	ATP11C|ATP11C	138692495|138692495	0.010000|0.010000	0.17322|0.17322	0.629000|0.629000	0.29254|0.29254	0.940000|0.940000	0.58332|0.58332	-0.285000|-0.285000	0.08410|0.08410	-0.319000|-0.319000	0.08652|0.08652	-0.975000|-0.975000	0.02590|0.02590	GAA|AGA		0.343	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694	
LDOC1	23641	broad.mit.edu	37	X	140270954	140270954	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:140270954C>T	ENST00000370526.2	-	1	356	c.253G>A	c.(253-255)Gac>Aac	p.D85N	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	85					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)		p.D85N(1)		endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TTCATGGCGTCGTTGCAGAAT	0.572																																					p.D85N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G253A	X						.						143.0	116.0	125.0					X																	140270954		2203	4300	6503	140098620	SO:0001583	missense	23641	exon1			AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.253G>A	X.37:g.140270954C>T	ENSP00000359557:p.Asp85Asn		140098620	NM_012317	Q6IAR6	Missense_Mutation	SNP	ENST00000370526.2	37	CCDS14672.1	.	.	.	.	.	.	.	.	.	.	.	24.3	4.515240	0.85389	.	.	ENSG00000182195	ENST00000370526	T	0.28255	1.62	3.67	3.67	0.42095	.	0.103258	0.39544	N	0.001327	T	0.50205	0.1602	M	0.72894	2.215	0.27753	N	0.944089	D	0.89917	1.0	D	0.91635	0.999	T	0.36040	-0.9764	10	0.48119	T	0.1	-12.2209	9.9233	0.41476	0.0:1.0:0.0:0.0	.	85	O95751	LDOC1_HUMAN	N	85	ENSP00000359557:D85N	ENSP00000359557:D85N	D	-	1	0	LDOC1	140098620	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.219000	0.51200	2.092000	0.63282	0.287000	0.19450	GAC		0.572	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058592.1	NM_012317	
MAGEC1	9947	broad.mit.edu	37	X	140994260	140994260	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:140994260C>A	ENST00000285879.4	+	4	1356	c.1070C>A	c.(1069-1071)tCt>tAt	p.S357Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	357								p.S357Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCTCCTGAGAGT	0.473										HNSCC(15;0.026)																											p.S357Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1070A	X						.						106.0	106.0	106.0					X																	140994260		2199	4293	6492	140821926	SO:0001583	missense	9947	exon4			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1070C>A	X.37:g.140994260C>A	ENSP00000285879:p.Ser357Tyr		140821926	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	2.825	-0.243993	0.05906	.	.	ENSG00000155495	ENST00000285879	T	0.02323	4.34	.	.	.	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	0.09310	N	0.999999	B	0.13145	0.007	B	0.06405	0.002	T	0.46652	-0.9176	8	0.87932	D	0	.	2.9033	0.05713	0.493:0.5066:2.0E-4:2.0E-4	.	357	O60732	MAGC1_HUMAN	Y	357	ENSP00000285879:S357Y	ENSP00000285879:S357Y	S	+	2	0	MAGEC1	140821926	0.001000	0.12720	0.007000	0.13788	0.007000	0.05969	0.134000	0.15932	0.148000	0.19059	0.150000	0.16122	TCT		0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MAGEC1	9947	broad.mit.edu	37	X	140995220	140995220	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:140995220A>G	ENST00000285879.4	+	4	2316	c.2030A>G	c.(2029-2031)cAg>cGg	p.Q677R	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	677								p.Q677R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTCTCCAGAGTCCTGAG	0.562										HNSCC(15;0.026)																											p.Q677R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2030G	X						.						74.0	77.0	76.0					X																	140995220		2203	4300	6503	140822886	SO:0001583	missense	9947	exon4			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2030A>G	X.37:g.140995220A>G	ENSP00000285879:p.Gln677Arg		140822886	NM_005462	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	8.079	0.771946	0.16051	.	.	ENSG00000155495	ENST00000285879	T	0.02258	4.37	0.901	-0.468	0.12146	.	.	.	.	.	T	0.01592	0.0051	N	0.19112	0.55	0.30788	N	0.741258	B	0.18968	0.032	B	0.09377	0.004	T	0.34551	-0.9824	9	0.87932	D	0	.	3.6483	0.08194	0.676:0.0:0.324:0.0	.	677	O60732	MAGC1_HUMAN	R	677	ENSP00000285879:Q677R	ENSP00000285879:Q677R	Q	+	2	0	MAGEC1	140822886	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-1.220000	0.02971	0.136000	0.18733	0.134000	0.15878	CAG		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
GLRA2	2742	broad.mit.edu	37	X	14627285	14627285	+	Silent	SNP	G	G	A	rs374752127		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:14627285G>A	ENST00000218075.4	+	7	1418	c.888G>A	c.(886-888)acG>acA	p.T296T	GLRA2_ENST00000443437.2_Silent_p.T207T|GLRA2_ENST00000355020.4_Silent_p.T296T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	296					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.T296T(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	CAGTCTTAACGATGACCACCC	0.488																																					p.T296T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G888A	X						.	G	,,,	0,3835		0,0,0,1632,571	78.0	76.0	77.0		888,888,621,888	-7.5	0.3	X		77	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GLRA2	NM_001118885.1,NM_001118886.1,NM_001171942.1,NM_002063.3	,,,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,,,	296/453,296/453,207/364,296/453	14627285	1,10562	2203	4300	6503	14537206	SO:0001819	synonymous_variant	2742	exon8				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.888G>A	X.37:g.14627285G>A			14537206	NM_001118885	A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Silent	SNP	ENST00000218075.4	37	CCDS14160.1																																																																																				0.488	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1		
SLITRK2	84631	broad.mit.edu	37	X	144905350	144905350	+	Silent	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:144905350T>G	ENST00000370490.1	+	1	5662	c.1407T>G	c.(1405-1407)gcT>gcG	p.A469A	SLITRK2_ENST00000434188.2_Silent_p.A469A|SLITRK2_ENST00000428560.2_Silent_p.A469A|SLITRK2_ENST00000447897.2_Silent_p.A469A|SLITRK2_ENST00000413937.2_Silent_p.A469A			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	469					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.A469A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGATGCTTTGATTAACC	0.408																																					p.A469A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1407G	X						.						160.0	164.0	163.0					X																	144905350		2203	4300	6503	144713042	SO:0001819	synonymous_variant	84631	exon3			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1407T>G	X.37:g.144905350T>G			144713042	NM_001144006	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	CCDS14680.1																																																																																				0.408	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
FANCB	2187	broad.mit.edu	37	X	14862651	14862651	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:14862651G>A	ENST00000324138.3	-	8	2292	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	FANCB_ENST00000398334.1_Silent_p.F713F	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	713					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)		p.F713F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAATCCCTTCGAATGGTGTTC	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.F713F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2139T	X						.						69.0	67.0	68.0					X																	14862651		2203	4299	6502	14772572	SO:0001819	synonymous_variant	2187	exon9	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.2139C>T	X.37:g.14862651G>A			14772572	NM_001018113	B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	CCDS14161.1																																																																																				0.368	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633	
AFF2	2334	broad.mit.edu	37	X	147743636	147743636	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:147743636A>G	ENST00000370460.2	+	3	867	c.388A>G	c.(388-390)Acc>Gcc	p.T130A	AFF2_ENST00000370458.1_Missense_Mutation_p.T126A|AFF2_ENST00000342251.3_Missense_Mutation_p.T126A|AFF2_ENST00000370457.5_Missense_Mutation_p.T126A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	130					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.T130A(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGATAATACCCATCCTTC	0.403																																					p.T130A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A388G	X						.						244.0	239.0	241.0					X																	147743636		2203	4300	6503	147551328	SO:0001583	missense	2334	exon3			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.388A>G	X.37:g.147743636A>G	ENSP00000359489:p.Thr130Ala		147551328	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766887	0.31320	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.63	4.48	0.54585	.	0.580298	0.18239	N	0.147298	T	0.61350	0.2340	N	0.19112	0.55	0.80722	D	1	B;B;B;D;D;B	0.63046	0.008;0.008;0.008;0.99;0.992;0.029	B;B;B;D;D;B	0.76071	0.011;0.011;0.011;0.979;0.987;0.008	T	0.60378	-0.7275	10	0.40728	T	0.16	.	6.0763	0.19917	0.79:0.0:0.21:0.0	.	130;126;126;126;130;126	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	A	130;126;126;126	ENSP00000359489:T130A;ENSP00000359486:T126A;ENSP00000345459:T126A;ENSP00000359487:T126A	ENSP00000345459:T126A	T	+	1	0	AFF2	147551328	0.635000	0.27199	0.983000	0.44433	0.401000	0.30781	2.568000	0.45965	1.891000	0.54761	0.486000	0.48141	ACC		0.403	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
AFF2	2334	broad.mit.edu	37	X	148038046	148038046	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:148038046C>T	ENST00000370460.2	+	11	2950	c.2471C>T	c.(2470-2472)gCc>gTc	p.A824V	AFF2_ENST00000342251.3_Missense_Mutation_p.A791V|AFF2_ENST00000286437.5_Missense_Mutation_p.A465V|AFF2_ENST00000370457.5_Missense_Mutation_p.A791V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	824					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.A465V(1)|p.A824V(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCACCTGCCAAGCCAGAC	0.527																																					p.A824V												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2471T	X						.						69.0	69.0	69.0					X																	148038046		2203	4300	6503	147845746	SO:0001583	missense	2334	exon11			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2471C>T	X.37:g.148038046C>T	ENSP00000359489:p.Ala824Val		147845746	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817359	0.32145	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.87	4.08	0.47627	.	0.649152	0.15792	N	0.244396	T	0.41743	0.1172	N	0.20986	0.625	0.09310	N	0.999999	B;B;B;B;B;B	0.10296	0.003;0.002;0.002;0.002;0.002;0.003	B;B;B;B;B;B	0.12837	0.008;0.003;0.003;0.003;0.004;0.008	T	0.07751	-1.0756	10	0.28530	T	0.3	.	3.8725	0.09042	0.0:0.5315:0.2001:0.2683	.	465;789;791;785;814;824	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	824;791;791;465	ENSP00000359489:A824V;ENSP00000359486:A791V;ENSP00000345459:A791V;ENSP00000286437:A465V	ENSP00000286437:A465V	A	+	2	0	AFF2	147845746	0.088000	0.21588	0.941000	0.38009	0.989000	0.77384	2.015000	0.40961	2.467000	0.83353	0.600000	0.82982	GCC		0.527	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
MAMLD1	10046	broad.mit.edu	37	X	149638672	149638672	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:149638672C>A	ENST00000370401.2	+	4	1137	c.827C>A	c.(826-828)tCt>tAt	p.S276Y	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000426613.2_Missense_Mutation_p.S251Y|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S251Y|MAMLD1_ENST00000262858.5_Missense_Mutation_p.S276Y			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	276					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S203Y(1)|p.S276Y(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TCACCGAGTTCTTCAATGGCA	0.567																																					p.S251Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C752A	X						.						111.0	94.0	100.0					X																	149638672		2203	4300	6503	149389330	SO:0001583	missense	10046	exon2			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.827C>A	X.37:g.149638672C>A	ENSP00000359428:p.Ser276Tyr		149389330	NM_001177466	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464384	0.43736	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.71222	-0.12;-0.55;-0.12;-0.13	5.23	4.36	0.52297	.	0.162074	0.44097	D	0.000490	T	0.81269	0.4787	M	0.66939	2.045	0.54753	D	0.999989	D;D;D;D	0.76494	0.999;0.993;0.997;0.993	D;P;D;P	0.67548	0.952;0.858;0.912;0.858	T	0.81138	-0.1069	9	.	.	.	-7.2332	15.084	0.72135	0.0:0.8612:0.1388:0.0	.	238;251;251;276	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	Y	238;276;251;276;251	ENSP00000359428:S276Y;ENSP00000414517:S251Y;ENSP00000262858:S276Y;ENSP00000397438:S251Y	.	S	+	2	0	MAMLD1	149389330	0.999000	0.42202	0.004000	0.12327	0.693000	0.40251	3.313000	0.51935	0.979000	0.38497	0.529000	0.55759	TCT		0.567	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
MTMR1	8776	broad.mit.edu	37	X	149899076	149899076	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:149899076G>T	ENST00000370390.3	+	7	870	c.713G>T	c.(712-714)aGa>aTa	p.R238I	MTMR1_ENST00000451863.2_Missense_Mutation_p.R238I|MTMR1_ENST00000541925.1_Missense_Mutation_p.R144I|MTMR1_ENST00000542156.1_Missense_Mutation_p.R238I|MTMR1_ENST00000544228.1_Missense_Mutation_p.R238I|MTMR1_ENST00000445323.2_Missense_Mutation_p.R246I|MTMR1_ENST00000538506.1_Missense_Mutation_p.R125I	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	238	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.R238I(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GAATATAAGAGACAGGTAAAG	0.318																																					p.R238I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G713T	X						.						53.0	57.0	56.0					X																	149899076		2202	4291	6493	149649734	SO:0001583	missense	8776	exon7			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.713G>T	X.37:g.149899076G>T	ENSP00000359417:p.Arg238Ile		149649734	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837021	0.91117	.	.	ENSG00000063601	ENST00000541925;ENST00000493995;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D;D	0.99070	-3.89;-5.39;-3.89;-3.89;-3.89;-3.89;-3.89;-3.39	5.24	5.24	0.73138	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.995	P;D;P	0.76575	0.89;0.988;0.868	D	0.97338	0.9955	10	0.87932	D	0	.	18.1714	0.89746	0.0:0.0:1.0:0.0	.	238;246;238	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	I	144;144;238;238;246;238;238;125	ENSP00000441879:R144I;ENSP00000431992:R144I;ENSP00000445281:R238I;ENSP00000359417:R238I;ENSP00000414178:R246I;ENSP00000440534:R238I;ENSP00000387446:R238I;ENSP00000443444:R125I	ENSP00000359417:R238I	R	+	2	0	MTMR1	149649734	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.316000	0.78162	0.544000	0.68410	AGA		0.318	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
CD99L2	83692	broad.mit.edu	37	X	149963717	149963717	+	Missense_Mutation	SNP	C	C	T	rs146802752		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:149963717C>T	ENST00000370377.3	-	6	509	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	CD99L2_ENST00000466436.1_Missense_Mutation_p.R82Q|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.R59Q	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	131					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R131Q(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCCATCATCTCGATCATTTCG	0.463																																					p.R82Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G245A	X						.	C	,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	154.0	155.0	155.0		,404,392,176,245	-7.3	0.0	X	dbSNP_134	155	1,6727		0,1,2427,1872	no	intron,missense,missense,missense,missense	CD99L2	NM_001184808.1,NM_001242614.1,NM_031462.3,NM_134445.3,NM_134446.3	,43,43,43,43	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,benign,benign,benign,benign	,135/273,131/263,59/191,82/214	149963717	1,10562	2203	4300	6503	149714375	SO:0001583	missense	83692	exon4			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.392G>A	X.37:g.149963717C>T	ENSP00000359403:p.Arg131Gln		149714375	NM_134446	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	C	5.582	0.292149	0.10567	0.0	1.49E-4	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	3.67	-7.35	0.01422	.	0.979273	0.08343	N	0.960617	T	0.11623	0.0283	L	0.40543	1.245	0.09310	N	1	B;B;B	0.20988	0.022;0.022;0.05	B;B;B	0.19148	0.003;0.005;0.024	T	0.09796	-1.0658	9	.	.	.	-0.002	1.9937	0.03452	0.2228:0.4433:0.2442:0.0897	.	59;82;131	Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;C99L2_HUMAN	Q	131;135;59;82;94	ENSP00000359403:R131Q;ENSP00000347275:R59Q;ENSP00000417697:R82Q;ENSP00000391821:R94Q	.	R	-	2	0	CD99L2	149714375	0.000000	0.05858	0.000000	0.03702	0.920000	0.55202	-3.754000	0.00375	-4.146000	0.00070	0.513000	0.50165	CGA		0.463	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462	
PRRG3	79057	broad.mit.edu	37	X	150868495	150868495	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:150868495C>T	ENST00000370353.3	+	3	425	c.35C>T	c.(34-36)tCg>tTg	p.S12L	PRRG3_ENST00000538575.1_Missense_Mutation_p.S12L|PRRG3_ENST00000370354.1_Missense_Mutation_p.S20L			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	12						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S12L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCCCATTCGGTCCTGAAA	0.607																																					p.S12L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C35T	X						.						75.0	58.0	64.0					X																	150868495		2203	4300	6503	150619151	SO:0001583	missense	79057	exon3			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.35C>T	X.37:g.150868495C>T	ENSP00000359378:p.Ser12Leu		150619151	NM_024082	A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254475	0.39896	.	.	ENSG00000130032	ENST00000448726;ENST00000538575;ENST00000370354;ENST00000370353	D;D;D;D	0.99422	-5.88;-5.04;-5.66;-5.04	5.02	3.95	0.45737	Gamma-carboxyglutamic acid-rich (GLA) domain (1);	0.247356	0.33534	N	0.004810	D	0.98090	0.9370	M	0.69523	2.12	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	D	0.94408	0.7629	10	0.42905	T	0.14	-7.3341	5.5639	0.17160	0.2008:0.678:0.0:0.1212	.	12	Q9BZD7	TMG3_HUMAN	L	12;12;20;12	ENSP00000411509:S12L;ENSP00000440217:S12L;ENSP00000359379:S20L;ENSP00000359378:S12L	ENSP00000359378:S12L	S	+	2	0	PRRG3	150619151	0.977000	0.34250	0.249000	0.24280	0.881000	0.50899	2.451000	0.44952	2.072000	0.62099	0.529000	0.55759	TCG		0.607	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082	
GABRE	2564	broad.mit.edu	37	X	151123951	151123951	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:151123951G>T	ENST00000370328.3	-	8	1079	c.1026C>A	c.(1024-1026)ttC>ttA	p.F342L	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.F342L	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	342					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F229L(1)|p.F342L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGCGATATAGAAATCCAAGG	0.493																																					p.F342L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1026A	X						.						138.0	120.0	126.0					X																	151123951		2203	4300	6503	150874607	SO:0001583	missense	2564	exon8			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1026C>A	X.37:g.151123951G>T	ENSP00000359353:p.Phe342Leu		150874607	NM_004961	E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	2.359	-0.347013	0.05208	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.84516	-1.86;-1.86	5.78	5.78	0.91487	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.235594	0.30714	N	0.009037	T	0.65554	0.2702	N	0.05177	-0.1	0.80722	D	1	B	0.22541	0.071	B	0.22152	0.038	T	0.62891	-0.6758	10	0.02654	T	1	.	9.7852	0.40673	0.0947:0.0:0.9053:0.0	.	342	P78334	GBRE_HUMAN	L	342	ENSP00000359353:F342L;ENSP00000359350:F342L	ENSP00000359350:F342L	F	-	3	2	GABRE	150874607	0.998000	0.40836	0.999000	0.59377	0.257000	0.26127	0.464000	0.21988	2.428000	0.82296	0.600000	0.82982	TTC		0.493	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984	
PNMA5	114824	broad.mit.edu	37	X	152159400	152159400	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:152159400A>G	ENST00000439251.1	-	2	1181	c.743T>C	c.(742-744)tTt>tCt	p.F248S	PNMA5_ENST00000535214.1_Missense_Mutation_p.F248S|PNMA5_ENST00000452693.1_Missense_Mutation_p.F248S|PNMA5_ENST00000361887.5_Missense_Mutation_p.F248S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	248					positive regulation of apoptotic process (GO:0043065)			p.F248S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCTGCAGAAACCTAAACTG	0.522																																					p.F248S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T743C	X						.						70.0	68.0	68.0					X																	152159400		2203	4300	6503	151910056	SO:0001583	missense	114824	exon2			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.743T>C	X.37:g.152159400A>G	ENSP00000388850:p.Phe248Ser		151910056	NM_001103150	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	a	13.65	2.299885	0.40694	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	2.82	1.63	0.23807	.	.	.	.	.	T	0.27697	0.0681	M	0.80183	2.485	0.09310	N	1	D	0.76494	0.999	D	0.69142	0.962	T	0.07888	-1.0749	9	0.87932	D	0	.	4.2758	0.10808	0.8313:0.0:0.1687:0.0	.	248	Q96PV4	PNMA5_HUMAN	S	248	ENSP00000354834:F248S;ENSP00000445775:F248S;ENSP00000388850:F248S;ENSP00000392342:F248S	ENSP00000354834:F248S	F	-	2	0	PNMA5	151910056	0.003000	0.15002	0.009000	0.14445	0.062000	0.15995	1.140000	0.31516	0.368000	0.24481	0.237000	0.17872	TTT		0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926	
TKTL1	8277	broad.mit.edu	37	X	153551557	153551557	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:153551557C>T	ENST00000369915.3	+	9	1380	c.1191C>T	c.(1189-1191)gaC>gaT	p.D397D	TKTL1_ENST00000369912.2_Silent_p.D341D|TKTL1_ENST00000217905.7_Silent_p.D137D	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	397					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.D397D(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTCAGGTGACGATGGTGCTT	0.517																																					p.D391D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1173T	X						.						191.0	156.0	168.0					X																	153551557		2203	4300	6503	153204751	SO:0001819	synonymous_variant	8277	exon9			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1191C>T	X.37:g.153551557C>T			153204751	NM_001145933	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	ENST00000369915.3	37	CCDS35448.1																																																																																				0.517	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253	
F8	2157	broad.mit.edu	37	X	154132793	154132793	+	Missense_Mutation	SNP	C	C	A	rs28933678		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:154132793C>A	ENST00000360256.4	-	17	5793	c.5593G>T	c.(5593-5595)Gat>Tat	p.D1865Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1865	F5/8 type A 3.|Plastocyanin-like 5.		D -> N (in HEMA; severe). {ECO:0000269|PubMed:8644728}.|D -> Y (in HEMA; severe).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.D1865Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GAGTGCACATCTTTTTCCTAG	0.468																																					p.D1865Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G5593T	X	GRCh37	CI076951|CM960560|CM960561	F8	I|M	rs28933678	.						125.0	103.0	111.0					X																	154132793		2203	4300	6503	153785987	SO:0001583	missense	2157	exon17			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5593G>T	X.37:g.154132793C>A	ENSP00000353393:p.Asp1865Tyr		153785987	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218590	0.58560	.	.	ENSG00000185010	ENST00000360256	D	0.99304	-5.72	4.51	4.51	0.55191	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98177	1.0455	10	0.87932	D	0	-22.3361	15.6443	0.77036	0.0:1.0:0.0:0.0	rs28933678	1865	P00451	FA8_HUMAN	Y	1865	ENSP00000353393:D1865Y	ENSP00000353393:D1865Y	D	-	1	0	F8	153785987	1.000000	0.71417	0.462000	0.27118	0.751000	0.42716	7.340000	0.79292	2.187000	0.69744	0.523000	0.50628	GAT		0.468	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu	37	X	154159625	154159625	+	Nonsense_Mutation	SNP	G	G	A	rs137852437		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:154159625G>A	ENST00000360256.4	-	14	2640	c.2440C>T	c.(2440-2442)Cga>Tga	p.R814*		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	814	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.R814*(5)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGACTCTGTCGCAAGAGCATC	0.418																																					p.R814X												.	.	5	Substitution - Nonsense(5)	large_intestine(5)	c.C2440T	X	GRCh37	CM900090	F8	M	rs137852437	.						211.0	195.0	200.0					X																	154159625		2203	4299	6502	153812819	SO:0001587	stop_gained	2157	exon14			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2440C>T	X.37:g.154159625G>A	ENSP00000353393:p.Arg814*		153812819	NM_000132	Q14286|Q5HY69	Nonsense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	36	5.935478	0.97122	.	.	ENSG00000185010	ENST00000360256	.	.	.	5.37	1.56	0.23342	.	1.373530	0.04059	N	0.306041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-0.8004	5.4333	0.16466	0.0:0.5907:0.1467:0.2626	.	.	.	.	X	814	.	ENSP00000353393:R814X	R	-	1	2	F8	153812819	0.307000	0.24500	0.800000	0.32199	0.008000	0.06430	0.630000	0.24553	0.129000	0.18514	-0.368000	0.07277	CGA		0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
F8	2157	broad.mit.edu	37	X	154175987	154175987	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:154175987G>A	ENST00000360256.4	-	13	2299	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.S700L(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTCCATCGACATGAAGAC	0.408																																					p.S700L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2099T	X	GRCh37	CM010857	F8	M		.						147.0	139.0	142.0					X																	154175987		2203	4300	6503	153829181	SO:0001583	missense	2157	exon13			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2099C>T	X.37:g.154175987G>A	ENSP00000353393:p.Ser700Leu		153829181	NM_000132	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	8.872	0.949534	0.18356	.	.	ENSG00000185010	ENST00000360256	D	0.98207	-4.79	4.55	3.68	0.42216	Cupredoxin (2);	0.708495	0.13962	N	0.350791	D	0.93959	0.8066	N	0.21097	0.63	0.24012	N	0.996173	D	0.55172	0.97	B	0.39840	0.311	D	0.88960	0.3393	10	0.51188	T	0.08	-11.974	6.0793	0.19933	0.1092:0.1868:0.704:0.0	.	700	P00451	FA8_HUMAN	L	700	ENSP00000353393:S700L	ENSP00000353393:S700L	S	-	2	0	F8	153829181	0.890000	0.30428	0.997000	0.53966	0.299000	0.27559	1.647000	0.37260	0.829000	0.34733	-0.192000	0.12808	TCG		0.408	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
P2RY8	286530	broad.mit.edu	37	X	1584669	1584669	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:1584669G>A	ENST00000381297.4	-	2	993	c.783C>T	c.(781-783)atC>atT	p.I261I	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.I261I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCTCACGATGTGCGCCA	0.612			T	CRLF2	"""B-ALL, Downs associated ALL"""																																p.I261I			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C783T	X						.						79.0	75.0	77.0					X																	1584669		2203	4296	6499	1544669	SO:0001819	synonymous_variant	286530	exon2			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.783C>T	X.37:g.1584669G>A			1544669	NM_178129		Silent	SNP	ENST00000381297.4	37	CCDS14115.1																																																																																				0.612	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129	
BMX	660	broad.mit.edu	37	X	15555405	15555405	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:15555405C>A	ENST00000357607.2	+	14	1559	c.1371C>A	c.(1369-1371)ttC>ttA	p.F457L	BMX_ENST00000342014.6_Missense_Mutation_p.F457L|BMX_ENST00000348343.6_Missense_Mutation_p.F457L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	457	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.F457L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AAGATGAATTCTTTCAGGAGG	0.483																																					p.F457L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1371A	X						.						141.0	122.0	129.0					X																	15555405		2203	4300	6503	15465326	SO:0001583	missense	660	exon14			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1371C>A	X.37:g.15555405C>A	ENSP00000350224:p.Phe457Leu		15465326	NM_203281	A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.605226	0.87157	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.82803	-1.65;-1.65;-1.65	5.56	3.78	0.43462	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.85805	0.5782	L	0.39633	1.23	0.45390	D	0.998379	D	0.76494	0.999	D	0.79108	0.992	D	0.85869	0.1415	10	0.66056	D	0.02	.	10.6944	0.45890	0.0:0.8354:0.0:0.1646	.	457	P51813	BMX_HUMAN	L	457	ENSP00000350224:F457L;ENSP00000308774:F457L;ENSP00000340082:F457L	ENSP00000340082:F457L	F	+	3	2	BMX	15465326	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.528000	0.45624	1.109000	0.41680	0.525000	0.51046	TTC		0.483	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721	
CMC4	100272147	broad.mit.edu	37	X	154292254	154292254	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:154292254C>A	ENST00000369484.3	-	2	723	c.45G>T	c.(43-45)caG>caT	p.Q15H	CMC4_ENST00000369479.1_Missense_Mutation_p.Q15H|MTCP1_ENST00000482244.1_5'Flank	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	15					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)		p.Q15H(1)									GTAAACATTTCTGTATCTCAC	0.303																																					p.Q15H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G45T	X						.						84.0	95.0	92.0					X																	154292254		2203	4299	6502	153945448	SO:0001583	missense	4515	exon2				CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.45G>T	X.37:g.154292254C>A	ENSP00000358496:p.Gln15His		153945448	NM_001018024	Q5HYP9	Missense_Mutation	SNP	ENST00000369484.3	37	CCDS14764.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644617	0.67358	.	.	ENSG00000182712	ENST00000369484;ENST00000369479	.	.	.	5.31	4.44	0.53790	.	0.000000	0.39210	U	0.001428	T	0.77205	0.4096	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78907	-0.2019	8	0.87932	D	0	-11.5656	10.2154	0.43166	0.0:0.9039:0.0:0.0961	.	15	P56277	MTCNB_HUMAN	H	15	.	ENSP00000358491:Q15H	Q	-	3	2	MTCP1NB	153945448	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.217000	0.51184	1.135000	0.42183	0.594000	0.82650	CAG		0.303	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2	NM_001018024.2	
ARSH	347527	broad.mit.edu	37	X	2936657	2936657	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:2936657C>T	ENST00000381130.2	+	5	847	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	283					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.R283C(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTTTGTTGGGCGCAGTAAATA	0.413													C|||	4	0.0010596	0.0	0.0	3775	,	,		14188	0.0		0.0	False		,,,				2504	0.0041				p.R283C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C847T	X						.						110.0	105.0	107.0					X																	2936657		2203	4300	6503	2946657	SO:0001583	missense	347527	exon5			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.847C>T	X.37:g.2936657C>T	ENSP00000370522:p.Arg283Cys		2946657	NM_001011719		Missense_Mutation	SNP	ENST00000381130.2	37	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232058	0.39399	.	.	ENSG00000205667	ENST00000381130	D	0.98777	-5.13	3.87	3.87	0.44632	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.282094	0.34828	N	0.003657	D	0.98912	0.9631	M	0.91196	3.185	0.23325	N	0.9979	D	0.64830	0.994	P	0.58820	0.846	D	0.95931	0.8938	10	0.72032	D	0.01	.	9.3336	0.38036	0.4076:0.5924:0.0:0.0	.	283	Q5FYA8	ARSH_HUMAN	C	283	ENSP00000370522:R283C	ENSP00000370522:R283C	R	+	1	0	ARSH	2946657	0.001000	0.12720	0.094000	0.20943	0.172000	0.22775	1.174000	0.31932	1.568000	0.49683	0.594000	0.82650	CGC		0.413	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	
MXRA5	25878	broad.mit.edu	37	X	3242450	3242450	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:3242450G>T	ENST00000217939.6	-	5	1430	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	426						extracellular vesicular exosome (GO:0070062)		p.L426I(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTCTGCAAGAATCTGGGCT	0.512																																					p.L426I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1276A	X						.						101.0	94.0	96.0					X																	3242450		2203	4300	6503	3252450	SO:0001583	missense	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1276C>A	X.37:g.3242450G>T	ENSP00000217939:p.Leu426Ile		3252450	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.722088	0.03182	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.63	0.298	0.15766	.	0.481456	0.15500	U	0.259088	T	0.54919	0.1888	M	0.70595	2.14	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.46303	-0.9201	10	0.33940	T	0.23	.	7.2087	0.25921	0.0:0.3006:0.3878:0.3116	.	426	Q9NR99	MXRA5_HUMAN	I	426	ENSP00000217939:L426I	ENSP00000217939:L426I	L	-	1	0	MXRA5	3252450	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.459000	0.06728	-0.020000	0.14032	-0.532000	0.04303	CTT		0.512	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	broad.mit.edu	37	X	3242528	3242528	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:3242528C>A	ENST00000217939.6	-	5	1352	c.1198G>T	c.(1198-1200)Gac>Tac	p.D400Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	400						extracellular vesicular exosome (GO:0070062)		p.D400Y(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACTCTGGGGTCTTTGCTGAGC	0.473																																					p.D400Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1198T	X						.						76.0	66.0	69.0					X																	3242528		2203	4300	6503	3252528	SO:0001583	missense	25878	exon5			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1198G>T	X.37:g.3242528C>A	ENSP00000217939:p.Asp400Tyr		3252528	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414763	0.25465	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65178	-0.14	3.29	3.29	0.37713	.	0.163605	0.28225	U	0.016139	T	0.67211	0.2869	M	0.70595	2.14	0.25818	N	0.984312	D	0.69078	0.997	P	0.52710	0.707	T	0.61217	-0.7107	10	0.62326	D	0.03	.	8.6401	0.33972	0.0:0.8879:0.0:0.1121	.	400	Q9NR99	MXRA5_HUMAN	Y	400	ENSP00000217939:D400Y	ENSP00000217939:D400Y	D	-	1	0	MXRA5	3252528	0.265000	0.24102	0.010000	0.14722	0.063000	0.16089	2.199000	0.42715	1.277000	0.44412	0.425000	0.28330	GAC		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
NLGN4X	57502	broad.mit.edu	37	X	5811554	5811554	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:5811554C>T	ENST00000381095.3	-	6	2382	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	NLGN4X_ENST00000538097.1_Silent_p.T585T|NLGN4X_ENST00000275857.6_Silent_p.T585T|NLGN4X_ENST00000381093.2_Silent_p.T605T|NLGN4X_ENST00000381092.1_Silent_p.T585T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	585					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.T585T(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGCCACTTTCGTTGCCCGGT	0.463																																					p.T585T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1755A	X						.						135.0	131.0	133.0					X																	5811554		2202	4300	6502	5821554	SO:0001819	synonymous_variant	57502	exon6			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1755G>A	X.37:g.5811554C>T			5821554	NM_020742	Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	CCDS14126.1																																																																																				0.463	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
STS	412	broad.mit.edu	37	X	7171331	7171331	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:7171331G>A	ENST00000217961.4	+	2	326	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	36					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.D36N(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GATGGCTGACGACCTCGGCAT	0.502									Ichthyosis																												p.D36N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G106A	X						.						132.0	102.0	112.0					X																	7171331		2203	4299	6502	7181331	SO:0001583	missense	412	exon2	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.106G>A	X.37:g.7171331G>A	ENSP00000217961:p.Asp36Asn		7181331	NM_000351	B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330243	0.81690	.	.	ENSG00000101846	ENST00000217961	D	0.95622	-3.76	3.86	3.86	0.44501	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98052	0.9358	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99084	1.0838	10	0.87932	D	0	.	13.9503	0.64113	0.0:0.0:1.0:0.0	.	36	P08842	STS_HUMAN	N	36	ENSP00000217961:D36N	ENSP00000217961:D36N	D	+	1	0	STS	7181331	1.000000	0.71417	0.720000	0.30636	0.702000	0.40608	7.982000	0.88131	1.547000	0.49401	0.600000	0.82982	GAC		0.502	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351	
FAM9B	171483	broad.mit.edu	37	X	9000419	9000419	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:9000419C>T	ENST00000327220.5	-	3	476	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	FAM9B_ENST00000362066.3_Missense_Mutation_p.E83K|FAM9B_ENST00000428477.1_Missense_Mutation_p.E38K			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	38						nucleus (GO:0005634)		p.E38K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GGTTCTCTTTCCCCATGCTCA	0.418																																					p.E38K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	X						.						255.0	209.0	224.0					X																	9000419		2203	4300	6503	8960419	SO:0001583	missense	171483	exon2				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"""testis expressed 39B"""	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.112G>A	X.37:g.9000419C>T	ENSP00000318716:p.Glu38Lys		8960419	NM_205849	Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	ENST00000327220.5	37	CCDS14132.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094194	0.36952	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	T	0.28566	0.0707	L	0.32530	0.975	0.09310	N	1	P;P	0.46578	0.88;0.88	P;P	0.50270	0.636;0.636	T	0.12293	-1.0553	7	0.05833	T	0.94	.	.	.	.	.	38;83	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	K	83;38;38	.	ENSP00000318716:E38K	E	-	1	0	FAM9B	8960419	0.100000	0.21855	0.203000	0.23512	0.203000	0.24098	-0.021000	0.12504	0.280000	0.22209	0.284000	0.19432	GAA		0.418	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055702.2	NM_205849	
RBBP7	5931	broad.mit.edu	37	X	16870937	16870937	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:16870937C>T	ENST00000380087.2	-	7	1180	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	RBBP7_ENST00000404022.1_Missense_Mutation_p.E265K|RBBP7_ENST00000380084.4_Missense_Mutation_p.E318K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	274					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)	p.E274K(2)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CAGTTGACTTCGGCAGTGTGC	0.483																																					p.E318K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G952A	X						.						148.0	139.0	142.0					X																	16870937		2203	4300	6503	16780858	SO:0001583	missense	5931	exon7			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.820G>A	X.37:g.16870937C>T	ENSP00000369427:p.Glu274Lys		16780858	NM_001198719	Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634932	0.87760	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000444437;ENST00000416035	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.27	5.27	0.74061	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	0.51227	0.1662	L	0.42245	1.32	0.80722	D	1	P;P;P	0.39535	0.53;0.677;0.506	B;B;B	0.35510	0.086;0.196;0.204	T	0.59215	-0.7496	10	0.87932	D	0	-10.6354	17.084	0.86605	0.0:1.0:0.0:0.0	.	265;274;318	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	K	274;318;265;78;194	ENSP00000369427:E274K;ENSP00000369424:E318K;ENSP00000386068:E265K;ENSP00000402796:E78K;ENSP00000392714:E194K	ENSP00000369424:E318K	E	-	1	0	RBBP7	16780858	1.000000	0.71417	0.934000	0.37439	0.985000	0.73830	7.772000	0.85439	2.330000	0.79161	0.600000	0.82982	GAA		0.483	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893	
NHS	4810	broad.mit.edu	37	X	17750208	17750208	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:17750208G>A	ENST00000380060.3	+	8	4855	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	NHS_ENST00000398097.3_Missense_Mutation_p.R1350H	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1527					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R1506H(1)|p.R1350H(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAAGGCAGTCGCTCAGATTCT	0.517																																					p.R1350H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4049A	X						.						110.0	100.0	103.0					X																	17750208		2203	4300	6503	17660129	SO:0001583	missense	4810	exon9				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4517G>A	X.37:g.17750208G>A	ENSP00000369400:p.Arg1506His		17660129	NM_001136024	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745513	0.89663	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.61859	0.07;0.07	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.76451	-0.2954	10	0.49607	T	0.09	-17.5379	18.877	0.92341	0.0:0.0:1.0:0.0	.	1527;1348;1350;1506	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	H	1506;1350;1348	ENSP00000369400:R1506H;ENSP00000381170:R1350H	ENSP00000369397:R1348H	R	+	2	0	NHS	17660129	1.000000	0.71417	0.820000	0.32676	0.755000	0.42902	9.174000	0.94824	2.492000	0.84095	0.600000	0.82982	CGC		0.517	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
BEND2	139105	broad.mit.edu	37	X	18219962	18219962	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:18219962A>C	ENST00000380033.4	-	6	1138	c.1006T>G	c.(1006-1008)Tta>Gta	p.L336V	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	336										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAGACAGATAAAGAGGCAGTA	0.433																																					p.L336V												.	.	0			c.T1006G	X						.						226.0	188.0	201.0					X																	18219962		2203	4300	6503	18129883	SO:0001583	missense	139105	exon6			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1006T>G	X.37:g.18219962A>C	ENSP00000369372:p.Leu336Val		18129883	NM_153346	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	-	5.381	0.255448	0.10185	.	.	ENSG00000177324	ENST00000380033	T	0.24350	1.86	3.36	-1.38	0.09027	.	.	.	.	.	T	0.11367	0.0277	L	0.29908	0.895	0.09310	N	1	B	0.26975	0.165	B	0.18561	0.022	T	0.34079	-0.9843	9	0.05833	T	0.94	.	3.6718	0.08277	0.3681:0.4371:0.1948:0.0	.	336	Q8NDZ0	BEND2_HUMAN	V	336	ENSP00000369372:L336V	ENSP00000369372:L336V	L	-	1	2	BEND2	18129883	0.052000	0.20516	0.000000	0.03702	0.026000	0.11368	0.347000	0.20014	-0.343000	0.08351	0.336000	0.21669	TTA		0.433	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
BEND2	139105	broad.mit.edu	37	X	18221838	18221838	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:18221838G>A	ENST00000380033.4	-	5	822	c.690C>T	c.(688-690)ttC>ttT	p.F230F	BEND2_ENST00000380030.3_Silent_p.F230F	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	230								p.F230F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATGGCATACCGAAACAAGGAA	0.453																																					p.F230F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C690T	X						.						168.0	135.0	146.0					X																	18221838		2203	4300	6503	18131759	SO:0001819	synonymous_variant	139105	exon5			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.690C>T	X.37:g.18221838G>A			18131759	NM_153346	E9PFY2|Q4V9S2|Q5JXE5	Silent	SNP	ENST00000380033.4	37	CCDS14184.1																																																																																				0.453	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
PPEF1	5475	broad.mit.edu	37	X	18800496	18800496	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:18800496G>A	ENST00000361511.4	+	11	1232	c.738G>A	c.(736-738)acG>acA	p.T246T	PPEF1_ENST00000359763.6_Silent_p.T193T|PPEF1_ENST00000543630.1_Silent_p.T246T|PPEF1_ENST00000349874.5_Silent_p.T246T|PPEF1_ENST00000544635.1_Silent_p.T181T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	246	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.T246T(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATGGCTTCACGAAAGAAATTT	0.313																																					p.T246T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G738A	X						.						86.0	80.0	82.0					X																	18800496		2201	4298	6499	18710417	SO:0001819	synonymous_variant	5475	exon11			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.738G>A	X.37:g.18800496G>A			18710417	NM_152226	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	CCDS14188.1																																																																																				0.313	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	
GPR64	10149	broad.mit.edu	37	X	19086880	19086880	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:19086880G>T	ENST00000379869.3	-	3	236	c.73C>A	c.(73-75)Ctt>Att	p.L25I	GPR64_ENST00000357544.3_Missense_Mutation_p.L25I|GPR64_ENST00000340581.3_Missense_Mutation_p.L25I|GPR64_ENST00000379876.1_Missense_Mutation_p.L25I|GPR64_ENST00000379878.3_Missense_Mutation_p.L25I|GPR64_ENST00000354791.3_Missense_Mutation_p.L25I|GPR64_ENST00000379873.2_Missense_Mutation_p.L25I|GPR64_ENST00000360279.4_Missense_Mutation_p.L25I|GPR64_ENST00000356606.4_Missense_Mutation_p.L25I|GPR64_ENST00000357991.3_Missense_Mutation_p.L25I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	25					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L25I(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					ATGATGACAAGGAATATCTTG	0.383																																					p.L25I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C73A	X						.						165.0	145.0	152.0					X																	19086880		2203	4300	6503	18996801	SO:0001583	missense	10149	exon3			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.73C>A	X.37:g.19086880G>T	ENSP00000369198:p.Leu25Ile		18996801	NM_001184837	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	g	12.84	2.057619	0.36277	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.47869	0.97;1.23;1.23;0.96;0.92;1.13;1.0;1.12;1.27;0.83	5.51	5.51	0.81932	.	0.000000	0.33875	N	0.004475	T	0.54663	0.1872	N	0.24115	0.695	0.21416	N	0.999691	D;B;P;P;P;P;P;P;P;P;P	0.63880	0.993;0.234;0.861;0.861;0.861;0.861;0.861;0.861;0.861;0.782;0.782	D;B;P;P;P;P;P;P;P;B;B	0.76071	0.987;0.192;0.477;0.615;0.615;0.615;0.615;0.615;0.615;0.411;0.411	T	0.52313	-0.8592	10	0.87932	D	0	.	13.6584	0.62352	0.0:0.0:1.0:0.0	.	25;25;25;25;25;25;25;25;25;25;25	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	25	ENSP00000369202:L25I;ENSP00000369207:L25I;ENSP00000346845:L25I;ENSP00000369205:L25I;ENSP00000350152:L25I;ENSP00000369198:L25I;ENSP00000353421:L25I;ENSP00000350680:L25I;ENSP00000349015:L25I;ENSP00000344972:L25I	ENSP00000344972:L25I	L	-	1	0	GPR64	18996801	1.000000	0.71417	0.358000	0.25811	0.144000	0.21451	2.517000	0.45529	2.292000	0.77174	0.597000	0.82753	CTT		0.383	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2		
SMS	6611	broad.mit.edu	37	X	21995313	21995313	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:21995313C>T	ENST00000404933.2	+	5	716	c.464C>T	c.(463-465)tCg>tTg	p.S155L	SMS_ENST00000379404.1_Missense_Mutation_p.S102L|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_Missense_Mutation_p.S59L	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	155	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)	p.S155L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	ATTCTACACTCGAAGCAGTTT	0.428																																					p.S155L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C464T	X						.						82.0	84.0	83.0					X																	21995313		2203	4300	6503	21905234	SO:0001583	missense	6611	exon5			AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.464C>T	X.37:g.21995313C>T	ENSP00000385746:p.Ser155Leu		21905234	NM_004595	A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025487	0.75390	.	.	ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881	T;T;T	0.78924	-1.22;-1.22;-1.22	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.89146	0.6632	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90256	0.4297	10	0.87932	D	0	-9.5493	18.8727	0.92322	0.0:1.0:0.0:0.0	.	155;102	P52788;P52788-2	SPSY_HUMAN;.	L	155;102;59	ENSP00000385746:S155L;ENSP00000368714:S102L;ENSP00000388906:S59L	ENSP00000368714:S102L	S	+	2	0	SMS	21905234	1.000000	0.71417	0.938000	0.37757	0.305000	0.27757	7.452000	0.80683	2.403000	0.81681	0.600000	0.82982	TCG		0.428	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595	
PHEX	5251	broad.mit.edu	37	X	22051147	22051147	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:22051147C>T	ENST00000379374.4	+	1	589	c.24C>T	c.(22-24)agC>agT	p.S8S	PHEX_ENST00000537599.1_Silent_p.S8S	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	8					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S8S(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CAGGGAGCAGCGTGGAGACTG	0.542																																					p.S8S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C24T	X						.						219.0	155.0	177.0					X																	22051147		2203	4300	6503	21961068	SO:0001819	synonymous_variant	5251	exon1			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.24C>T	X.37:g.22051147C>T			21961068	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	CCDS14204.1																																																																																				0.542	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
KLHL15	80311	broad.mit.edu	37	X	24006374	24006374	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:24006374G>A	ENST00000328046.8	-	4	1734	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	493					protein ubiquitination (GO:0016567)			p.F493F(1)		autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AGACACCACCGAAGACATAAA	0.448																																					p.F493F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1479T	X						.						161.0	149.0	153.0					X																	24006374		2203	4300	6503	23916295	SO:0001819	synonymous_variant	80311	exon4			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1479C>T	X.37:g.24006374G>A			23916295	NM_030624	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	CCDS35217.1																																																																																				0.448	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383	
MAGEB10	139422	broad.mit.edu	37	X	27840332	27840332	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:27840332C>A	ENST00000356790.2	+	3	1154	c.909C>A	c.(907-909)ttC>ttA	p.F303L		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	303	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F303L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CCAGTGAATTCTCAAACTGGT	0.498																																					p.F303L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C909A	X						.						39.0	35.0	36.0					X																	27840332		2202	4300	6502	27750253	SO:0001583	missense	139422	exon3				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.909C>A	X.37:g.27840332C>A	ENSP00000368304:p.Phe303Leu		27750253	NM_182506	Q494Y6|Q494Y7|Q9BZ78	Missense_Mutation	SNP	ENST00000356790.2	37	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447711	0.26074	.	.	ENSG00000177689	ENST00000356790	T	0.02216	4.39	2.62	-0.219	0.13135	.	0.159805	0.45126	U	0.000395	T	0.05364	0.0142	M	0.82433	2.59	0.09310	N	1	D	0.54207	0.965	P	0.49708	0.62	T	0.19943	-1.0290	10	0.48119	T	0.1	.	5.0696	0.14600	0.0:0.4983:0.0:0.5017	.	303	Q96LZ2	MAGBA_HUMAN	L	303	ENSP00000368304:F303L	ENSP00000368304:F303L	F	+	3	2	MAGEB10	27750253	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.680000	0.05197	-0.197000	0.10350	0.422000	0.28245	TTC		0.498	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506	
CXorf21	80231	broad.mit.edu	37	X	30578257	30578257	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:30578257C>T	ENST00000378962.3	-	3	538	c.216G>A	c.(214-216)gaG>gaA	p.E72E		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	72								p.E72E(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TATGTTGGCTCTCTCTTGAAT	0.448																																					p.E72E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G216A	X						.						173.0	164.0	167.0					X																	30578257		2202	4300	6502	30488178	SO:0001819	synonymous_variant	80231	exon3			BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.216G>A	X.37:g.30578257C>T			30488178	NM_025159		Silent	SNP	ENST00000378962.3	37	CCDS14224.1																																																																																				0.448	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159	
TAB3	257397	broad.mit.edu	37	X	30870905	30870905	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:30870905G>A	ENST00000378933.1	-	4	1877	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378928.1_Missense_Mutation_p.A18V|TAB3_ENST00000378930.3_Missense_Mutation_p.A567V|TAB3_ENST00000288422.2_Missense_Mutation_p.A567V|TAB3_ENST00000378932.2_Missense_Mutation_p.A567V	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	567					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)	p.A567V(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						CGTAGGGATCGCAGTGGTGCA	0.463																																					p.A567V	Pancreas(164;1598 1985 29022 43301 49529)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1700T	X						.						165.0	116.0	132.0					X																	30870905		2202	4300	6502	30780826	SO:0001583	missense	257397	exon7			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.1700C>T	X.37:g.30870905G>A	ENSP00000368215:p.Ala567Val		30780826	NM_152787	A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029975	0.54790	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932;ENST00000378928	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.82	5.82	0.92795	.	0.227351	0.45867	D	0.000322	T	0.57666	0.2069	N	0.22421	0.69	0.39273	D	0.964416	B;B	0.33073	0.045;0.396	B;B	0.25759	0.063;0.041	T	0.58312	-0.7658	10	0.31617	T	0.26	-0.204	19.0103	0.92870	0.0:0.0:1.0:0.0	.	567;567	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	V	567;567;567;567;18	ENSP00000368215:A567V;ENSP00000368212:A567V;ENSP00000288422:A567V;ENSP00000368214:A567V	ENSP00000288422:A567V	A	-	2	0	TAB3	30780826	1.000000	0.71417	0.737000	0.30932	0.882000	0.50991	6.165000	0.71891	2.438000	0.82558	0.506000	0.49869	GCG		0.463	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	
DMD	1756	broad.mit.edu	37	X	31697635	31697635	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:31697635C>T	ENST00000357033.4	-	53	7935	c.7729G>A	c.(7729-7731)Gaa>Aaa	p.E2577K	DMD_ENST00000343523.2_Missense_Mutation_p.E117K|DMD_ENST00000541735.1_Missense_Mutation_p.E117K|DMD_ENST00000359836.1_Missense_Mutation_p.E117K|DMD_ENST00000378677.2_Missense_Mutation_p.E2573K|DMD_ENST00000474231.1_Missense_Mutation_p.E117K|DMD_ENST00000378707.3_Missense_Mutation_p.E117K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2577					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E2573K(1)|p.E117K(1)|p.E2572K(1)|p.E1236K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTAACATTTCATTCAACTGT	0.418																																					p.E117K												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.G349A	X						.						173.0	141.0	152.0					X																	31697635		2202	4300	6502	31607556	SO:0001583	missense	1756	exon10			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7729G>A	X.37:g.31697635C>T	ENSP00000354923:p.Glu2577Lys		31607556	NM_004021	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921345	0.73213	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.89	5.89	0.94794	.	0.000000	0.37348	U	0.002124	T	0.63593	0.2524	L	0.50333	1.59	0.42605	D	0.99329	B;D;D;P;P;P;B;B;P;P	0.59767	0.021;0.959;0.986;0.906;0.906;0.486;0.387;0.387;0.826;0.792	B;P;P;P;P;B;B;B;B;B	0.61800	0.14;0.6;0.894;0.6;0.6;0.205;0.309;0.309;0.446;0.318	T	0.56312	-0.8000	10	0.10636	T	0.68	.	19.1253	0.93380	0.0:1.0:0.0:0.0	.	2569;2577;2573;1236;1233;117;117;117;117;117	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3	.;DMD_HUMAN;.;.;.;.;.;.;.;.	K	2569;1236;1233;273;2573;2577;117;117;2577;2454;117;117;117	ENSP00000350765:E273K;ENSP00000367948:E2573K;ENSP00000354923:E2577K;ENSP00000352894:E117K;ENSP00000340057:E117K;ENSP00000367979:E117K;ENSP00000444119:E117K;ENSP00000417123:E117K	ENSP00000340057:E117K	E	-	1	0	DMD	31607556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.635000	0.61332	2.467000	0.83353	0.544000	0.68410	GAA		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	31947811	31947811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:31947811C>A	ENST00000357033.4	-	47	7020	c.6814G>T	c.(6814-6816)Gaa>Taa	p.E2272*	DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2268*|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2272					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.E2267*(1)|p.E2268*(1)|p.E931*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTCCAGTTTCATTTAATTGT	0.418																																					p.E931X												.	.	3	Substitution - Nonsense(3)	large_intestine(3)	c.G2791T	X						.						153.0	127.0	136.0					X																	31947811		2202	4300	6502	31857732	SO:0001587	stop_gained	1756	exon19			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6814G>T	X.37:g.31947811C>A	ENSP00000354923:p.Glu2272*		31857732	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	51	18.015778	0.99897	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	.	.	.	5.02	5.02	0.67125	.	0.000000	0.35936	U	0.002891	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	17.7194	0.88347	0.0:1.0:0.0:0.0	.	.	.	.	X	2264;931;928;2268;2272;2272;2149	.	ENSP00000354923:E2272X	E	-	1	0	DMD	31857732	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	4.048000	0.57390	2.202000	0.70862	0.600000	0.82982	GAA		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DMD	1756	broad.mit.edu	37	X	32456468	32456468	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:32456468T>G	ENST00000357033.4	-	29	4167	c.3961A>C	c.(3961-3963)Aat>Cat	p.N1321H	DMD_ENST00000378677.2_Missense_Mutation_p.N1317H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1321					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.N1317H(1)|p.N1316H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGAATCTGATTTGGGTTATCC	0.368																																					p.N1321H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A3961C	X						.						126.0	107.0	113.0					X																	32456468		2202	4300	6502	32366389	SO:0001583	missense	1756	exon29			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3961A>C	X.37:g.32456468T>G	ENSP00000354923:p.Asn1321His		32366389	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245092	0.79912	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.36157	1.27;1.27	5.82	5.82	0.92795	.	0.000000	0.39475	U	0.001359	T	0.57784	0.2077	M	0.63428	1.95	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.83275	0.996;0.981;0.991	T	0.59289	-0.7482	10	0.54805	T	0.06	.	14.8101	0.69989	0.0:0.0:0.0:1.0	.	1313;1321;1317	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	H	1313;1317;1321;1321;1198	ENSP00000367948:N1317H;ENSP00000354923:N1321H	ENSP00000354923:N1321H	N	-	1	0	DMD	32366389	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	7.255000	0.78338	1.959000	0.56917	0.486000	0.48141	AAT		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
CXorf22	170063	broad.mit.edu	37	X	35974224	35974224	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:35974224G>A	ENST00000297866.5	+	8	1387	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	441								p.E441K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATCAATGCGAATTACTTCC	0.358																																					p.E441K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1321A	X						.						69.0	63.0	65.0					X																	35974224		2202	4300	6502	35884145	SO:0001583	missense	170063	exon8			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1321G>A	X.37:g.35974224G>A	ENSP00000297866:p.Glu441Lys		35884145	NM_152632	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.057199	0.00390	.	.	ENSG00000165164	ENST00000297866	T	0.53640	0.61	5.2	-5.28	0.02755	.	1.251890	0.05007	N	0.470268	T	0.16257	0.0391	N	0.03324	-0.35	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.21999	-1.0229	10	0.05959	T	0.93	-31.1423	3.3027	0.06989	0.2448:0.3051:0.3491:0.101	.	441	Q6ZTR5	CX022_HUMAN	K	441	ENSP00000297866:E441K	ENSP00000297866:E441K	E	+	1	0	CXorf22	35884145	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.269000	0.08596	-0.677000	0.05231	-1.184000	0.01707	GAA		0.358	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
CHDC2	286464	broad.mit.edu	37	X	36103515	36103515	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:36103515G>A	ENST00000313548.4	+	5	687	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	167						integral component of membrane (GO:0016021)		p.K167K(1)|p.K167N(1)									AATATAATAAGACCATTTATG	0.353																																					p.K167K												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	c.G501A	X						.						88.0	85.0	86.0					X																	36103515		2202	4300	6502	36013436	SO:0001819	synonymous_variant	286464	exon5			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.501G>A	X.37:g.36103515G>A			36013436	NM_173695		Silent	SNP	ENST00000313548.4	37	CCDS14238.1																																																																																				0.353	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695	
SRPX	8406	broad.mit.edu	37	X	38033499	38033499	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:38033499C>T	ENST00000378533.3	-	3	369	c.263G>A	c.(262-264)cGc>cAc	p.R88H	SRPX_ENST00000432886.2_Missense_Mutation_p.R88H|SRPX_ENST00000343800.6_Missense_Mutation_p.R75H|SRPX_ENST00000544439.1_Missense_Mutation_p.R68H|SRPX_ENST00000538295.1_Missense_Mutation_p.R88H|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	88	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R88H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTTCTGGCAGCGAATGTCGCA	0.557																																					p.R88H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G263A	X						.						144.0	103.0	117.0					X																	38033499		2202	4300	6502	37918443	SO:0001583	missense	8406	exon3			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.263G>A	X.37:g.38033499C>T	ENSP00000367794:p.Arg88His		37918443	NM_006307	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	ENST00000378533.3	37	CCDS14245.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434732	0.83885	.	.	ENSG00000101955	ENST00000544439;ENST00000432886;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T;T	0.64991	1.88;-0.13;1.88;1.88;1.84	5.7	4.84	0.62591	Complement control module (2);Sushi/SCR/CCP (3);	0.091907	0.85682	D	0.000000	T	0.69566	0.3125	L	0.47016	1.485	0.58432	D	0.999995	D;D;D;D	0.71674	0.96;0.998;0.993;0.997	P;D;P;P	0.68353	0.81;0.957;0.698;0.882	T	0.67665	-0.5612	10	0.38643	T	0.18	-14.2099	10.1801	0.42963	0.0:0.8447:0.0:0.1553	.	88;88;68;88	F5H4D7;B4DQH5;G3V1L0;P78539	.;.;.;SRPX_HUMAN	H	68;88;88;88;75	ENSP00000440758:R68H;ENSP00000411165:R88H;ENSP00000445034:R88H;ENSP00000367794:R88H;ENSP00000339211:R75H	ENSP00000339211:R75H	R	-	2	0	SRPX	37918443	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.550000	0.53691	1.169000	0.42739	-0.191000	0.12829	CGC		0.557	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307	
OTC	5009	broad.mit.edu	37	X	38229107	38229107	+	Missense_Mutation	SNP	G	G	A	rs66550389		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:38229107G>A	ENST00000039007.4	+	3	427	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	92	Ornithine and carbamoyl phosphate binding.		R -> Q (in OTCD). {ECO:0000269|PubMed:1671317}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.R92Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AGAAGTACTCGAACAAGATTG	0.373																																					p.R92Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275A	X	GRCh37	CM062966|CM062967|CM910275	OTC	M	rs66550389	.						76.0	69.0	71.0					X																	38229107		2202	4300	6502	38114051	SO:0001583	missense	5009	exon3			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.275G>A	X.37:g.38229107G>A	ENSP00000039007:p.Arg92Gln		38114051	NM_000531	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232555	0.95207	.	.	ENSG00000036473	ENST00000039007	D	0.99904	-7.68	6.03	6.03	0.97812	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	H	0.99444	4.57	0.52501	D	0.999952	D	0.89917	1.0	D	0.83275	0.996	D	0.96047	0.9028	10	0.87932	D	0	.	18.1133	0.89542	0.0:0.0:1.0:0.0	.	92	P00480	OTC_HUMAN	Q	92	ENSP00000039007:R92Q	ENSP00000039007:R92Q	R	+	2	0	OTC	38114051	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.392000	0.79840	2.555000	0.86185	0.591000	0.81541	CGA		0.373	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
OTC	5009	broad.mit.edu	37	X	38262957	38262957	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:38262957G>A	ENST00000039007.4	+	6	779	c.627G>A	c.(625-627)gcG>gcA	p.A209A	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	209			A -> V (in OTCD; neonatal). {ECO:0000269|PubMed:10070627, ECO:0000269|PubMed:8530002, ECO:0000269|PubMed:8807340}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.A209A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TGAGCGCAGCGAAATTCGGAA	0.478																																					p.A209A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G627A	X						.						109.0	86.0	94.0					X																	38262957		2202	4300	6502	38147901	SO:0001819	synonymous_variant	5009	exon6			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.627G>A	X.37:g.38262957G>A			38147901	NM_000531	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Silent	SNP	ENST00000039007.4	37	CCDS14247.1																																																																																				0.478	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
BCOR	54880	broad.mit.edu	37	X	39932458	39932458	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:39932458A>C	ENST00000378444.4	-	4	2369	c.2141T>G	c.(2140-2142)gTg>gGg	p.V714G	BCOR_ENST00000397354.3_Missense_Mutation_p.V714G|BCOR_ENST00000378455.4_Missense_Mutation_p.V714G|BCOR_ENST00000342274.4_Missense_Mutation_p.V714G	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	714					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						TTGGTAGGTCACAAACTCTGG	0.557			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																														p.V714G			Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	.	0			c.T2141G	X						.						44.0	44.0	44.0					X																	39932458		2202	4300	6502	39817402	SO:0001583	missense	54880	exon4			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.2141T>G	X.37:g.39932458A>C	ENSP00000367705:p.Val714Gly		39817402	NM_001123383	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506095	0.64410	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	5.71	5.71	0.89125	.	.	.	.	.	T	0.14700	0.0355	N	0.14661	0.345	0.80722	D	1	P;P;P;P	0.51791	0.948;0.948;0.913;0.948	P;P;B;P	0.49999	0.628;0.547;0.424;0.547	T	0.04005	-1.0985	9	0.87932	D	0	-17.9658	14.9285	0.70898	1.0:0.0:0.0:0.0	.	714;714;714;714	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	G	714;714;714;714;714;121	ENSP00000367716:V714G;ENSP00000380512:V714G;ENSP00000367705:V714G;ENSP00000345923:V714G;ENSP00000384485:V714G	ENSP00000345923:V714G	V	-	2	0	BCOR	39817402	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.706000	0.74649	1.907000	0.55213	0.417000	0.27973	GTG		0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
CXorf38	159013	broad.mit.edu	37	X	40498288	40498288	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:40498288G>A	ENST00000327877.5	-	3	470	c.444C>T	c.(442-444)ttC>ttT	p.F148F	CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378421.1_Silent_p.F29F|CXorf38_ENST00000378426.1_Silent_p.F29F	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	148								p.F148F(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GATCAACCACGAAGTGATCGC	0.483																																					p.F148F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C444T	X						.						171.0	114.0	134.0					X																	40498288		2203	4300	6503	40383232	SO:0001819	synonymous_variant	159013	exon3			AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.444C>T	X.37:g.40498288G>A			40383232	NM_144970	B3KW28|D3DWB5|Q5JPF5|Q8N941	Silent	SNP	ENST00000327877.5	37	CCDS14253.1																																																																																				0.483	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3	NM_144970	
USP9X	8239	broad.mit.edu	37	X	41045782	41045782	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:41045782A>G	ENST00000324545.8	+	24	4204	c.3571A>G	c.(3571-3573)Acc>Gcc	p.T1191A	USP9X_ENST00000378308.2_Missense_Mutation_p.T1191A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1191					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.T1184A(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAACCAAGTTACCCATGATCA	0.408																																					p.T1191A	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3571G	X						.						163.0	144.0	150.0					X																	41045782		2203	4300	6503	40930726	SO:0001583	missense	8239	exon24			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3571A>G	X.37:g.41045782A>G	ENSP00000316357:p.Thr1191Ala		40930726	NM_001039590	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.996781	0.35226	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.02944	4.1;4.1	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.01730	0.0055	N	0.05124	-0.11	0.58432	D	0.999999	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.38243	-0.9670	10	0.02654	T	1	.	14.8455	0.70257	1.0:0.0:0.0:0.0	.	1191;1191	Q93008-1;Q93008	.;USP9X_HUMAN	A	1191	ENSP00000367558:T1191A;ENSP00000316357:T1191A	ENSP00000316357:T1191A	T	+	1	0	USP9X	40930726	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.910000	0.92685	1.955000	0.56771	0.486000	0.48141	ACC		0.408	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
USP9X	8239	broad.mit.edu	37	X	41047291	41047291	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:41047291A>C	ENST00000324545.8	+	25	4364	c.3731A>C	c.(3730-3732)aAa>aCa	p.K1244T	USP9X_ENST00000378308.2_Missense_Mutation_p.K1244T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1244					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.K1237T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCTATACAAAAAATTATCTGG	0.328																																					p.K1244T	Ovarian(172;1807 2695 35459 49286)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3731C	X						.						66.0	60.0	62.0					X																	41047291		2171	4284	6455	40932235	SO:0001583	missense	8239	exon25			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3731A>C	X.37:g.41047291A>C	ENSP00000316357:p.Lys1244Thr		40932235	NM_001039590	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489961	0.84962	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03152	4.03;4.03	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.08044	0.0201	L	0.50333	1.59	0.80722	D	1	D;D	0.57899	0.981;0.968	P;B	0.49252	0.604;0.4	T	0.23976	-1.0173	10	0.39692	T	0.17	.	14.7022	0.69164	1.0:0.0:0.0:0.0	.	1244;1244	Q93008-1;Q93008	.;USP9X_HUMAN	T	1244	ENSP00000367558:K1244T;ENSP00000316357:K1244T	ENSP00000316357:K1244T	K	+	2	0	USP9X	40932235	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	8.962000	0.93254	1.852000	0.53769	0.417000	0.27973	AAA		0.328	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	
GPR34	2857	broad.mit.edu	37	X	41555137	41555137	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:41555137G>A	ENST00000378142.4	+	3	535	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_ENST00000421587.2_Intron|CASK_ENST00000442742.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000378166.4_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	84					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.R84H(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383																																					p.R84H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G251A	X						.						111.0	101.0	104.0					X																	41555137		2203	4300	6503	41440081	SO:0001583	missense	2857	exon3			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.251G>A	X.37:g.41555137G>A	ENSP00000367384:p.Arg84His		41440081	NM_005300	O95853	Missense_Mutation	SNP	ENST00000378142.4	37	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786249	0.49997	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.72942	-0.7;-0.7	5.87	5.87	0.94306	GPCR, rhodopsin-like superfamily (1);	0.199385	0.46758	D	0.000278	T	0.64238	0.2580	M	0.61703	1.905	0.31444	N	0.67163	P	0.50528	0.936	B	0.35688	0.208	T	0.76263	-0.3023	10	0.66056	D	0.02	-12.6129	12.7065	0.57063	0.0864:0.0:0.9136:0.0	.	84	Q9UPC5	GPR34_HUMAN	H	84;84;37	ENSP00000367384:R84H;ENSP00000367378:R84H	ENSP00000367378:R84H	R	+	2	0	GPR34	41440081	0.996000	0.38824	0.999000	0.59377	0.995000	0.86356	3.434000	0.52841	2.466000	0.83321	0.594000	0.82650	CGT		0.383	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300	
CASK	8573	broad.mit.edu	37	X	41598677	41598677	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:41598677C>T	ENST00000378163.1	-	5	863	c.389G>A	c.(388-390)cGc>cAc	p.R130H	CASK_ENST00000421587.2_Missense_Mutation_p.R130H|CASK_ENST00000442742.2_Missense_Mutation_p.R130H|CASK_ENST00000378166.4_Missense_Mutation_p.R130H|CASK_ENST00000378154.1_Missense_Mutation_p.R130H|CASK_ENST00000378158.1_Missense_Mutation_p.R130H|CASK_ENST00000361962.4_Missense_Mutation_p.R130H|CASK_ENST00000318588.9_Missense_Mutation_p.R130H			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)	p.R130H(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATGGCAGTAGCGTAGAGCTTC	0.289																																					p.R130H	NSCLC(42;104 1086 3090 27189 35040)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G389A	X						.						79.0	74.0	76.0					X																	41598677		2203	4293	6496	41483621	SO:0001583	missense	8573	exon5			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.389G>A	X.37:g.41598677C>T	ENSP00000367405:p.Arg130His		41483621	NM_001126054	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	C	16.92	3.254565	0.59212	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.99	5.13	0.70059	.	0.000000	0.45126	D	0.000399	T	0.66607	0.2806	N	0.21142	0.635	0.80722	D	1	P;B;D	0.89917	0.501;0.156;1.0	B;B;D	0.68765	0.026;0.003;0.96	T	0.69465	-0.5138	10	0.54805	T	0.06	.	14.1372	0.65295	0.0:0.9257:0.0:0.0743	.	130;130;130	O14936-3;O14936-4;O14936-2	.;.;.	H	130	ENSP00000400526:R130H;ENSP00000322727:R130H;ENSP00000354641:R130H;ENSP00000367405:R130H;ENSP00000367400:R130H;ENSP00000367408:R130H;ENSP00000398007:R130H;ENSP00000367396:R130H	ENSP00000322727:R130H	R	-	2	0	CASK	41483621	1.000000	0.71417	0.992000	0.48379	0.908000	0.53690	7.052000	0.76634	1.285000	0.44548	0.600000	0.82982	CGC		0.289	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1	NM_003688	
EFHC2	80258	broad.mit.edu	37	X	44088925	44088925	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:44088925T>G	ENST00000420999.1	-	11	1804	c.1721A>C	c.(1720-1722)cAc>cCc	p.H574P		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	574	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.H574P(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CATATTTGTGTGCTTAGAGTC	0.393																																					p.H574P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1721C	X						.						181.0	153.0	162.0					X																	44088925		1864	4092	5956	43973869	SO:0001583	missense	80258	exon11			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1721A>C	X.37:g.44088925T>G	ENSP00000404232:p.His574Pro		43973869	NM_025184	Q5JST8|Q68DK4|Q8NEI0|Q9H653	Missense_Mutation	SNP	ENST00000420999.1	37	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	T	9.474	1.096316	0.20552	.	.	ENSG00000183690	ENST00000333807;ENST00000420999	T;T	0.79141	-1.24;-1.24	5.45	-1.96	0.07525	EF-hand-like domain (1);	0.717186	0.14374	N	0.323577	T	0.59445	0.2194	L	0.32530	0.975	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.39187	-0.9626	10	0.31617	T	0.26	0.5506	3.6971	0.08368	0.3912:0.2087:0.0:0.4001	.	574	Q5JST6	EFHC2_HUMAN	P	574;602	ENSP00000333823:H574P;ENSP00000404232:H602P	ENSP00000333823:H574P	H	-	2	0	EFHC2	43973869	0.179000	0.23135	0.000000	0.03702	0.126000	0.20510	0.354000	0.20146	-0.823000	0.04301	0.486000	0.48141	CAC		0.393	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184	
FUNDC1	139341	broad.mit.edu	37	X	44401266	44401266	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:44401266A>C	ENST00000378045.4	-	2	278	c.110T>G	c.(109-111)tTt>tGt	p.F37C	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	37					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)		p.F37C(1)		breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						ACTGTGGCCAAACACTCGATT	0.418																																					p.F37C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T110G	X						.						79.0	63.0	68.0					X																	44401266		2203	4300	6503	44286210	SO:0001583	missense	139341	exon2			BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.110T>G	X.37:g.44401266A>C	ENSP00000367284:p.Phe37Cys		44286210	NM_173794		Missense_Mutation	SNP	ENST00000378045.4	37	CCDS14263.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866383	0.91511	.	.	ENSG00000069509	ENST00000378045	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	P	0.59703	0.862	T	0.78897	-0.2023	9	0.87932	D	0	-20.2575	15.2726	0.73717	1.0:0.0:0.0:0.0	.	37	Q8IVP5	FUND1_HUMAN	C	37	.	ENSP00000367284:F37C	F	-	2	0	FUNDC1	44286210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.609000	0.90898	1.990000	0.58119	0.486000	0.48141	TTT		0.418	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056320.1	NM_173794	
ZNF674	641339	broad.mit.edu	37	X	46359848	46359848	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:46359848T>G	ENST00000523374.1	-	6	1386	c.1176A>C	c.(1174-1176)aaA>aaC	p.K392N	ZNF674_ENST00000414387.2_Missense_Mutation_p.K386N|ZNF674_ENST00000518795.1_5'Flank	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	392					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)	2						CTCTGAAGCTTTTCCCACATT	0.413																																					p.K387N												.	.	0			c.A1161C	X						.						96.0	94.0	95.0					X																	46359848		2137	4261	6398	46244792	SO:0001583	missense	641339	exon6			AY971607	CCDS48099.1, CCDS55406.1	Xp11.3	2013-01-08	2010-09-15		ENSG00000251192	ENSG00000251192		"""Zinc fingers, C2H2-type"", ""-"""	17625	protein-coding gene	gene with protein product		300573		MRX92		16385466	Standard	NM_001039891		Approved	ZNF673B	uc004dgr.3	Q2M3X9	OTTHUMG00000021420	ENST00000523374.1:c.1176A>C	X.37:g.46359848T>G	ENSP00000429148:p.Lys392Asn		46244792	NM_001190417	B4DHE2|E9PHQ4	Missense_Mutation	SNP	ENST00000523374.1	37	CCDS48099.1	.	.	.	.	.	.	.	.	.	.	T	10.11	1.261553	0.23051	.	.	ENSG00000251192	ENST00000523374;ENST00000414387	T;T	0.07908	3.15;3.15	2.24	2.24	0.28232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27866	0.0686	M	0.87758	2.905	0.21220	N	0.999756	P;D	0.67145	0.822;0.996	B;D	0.65684	0.16;0.937	T	0.03268	-1.1054	9	0.87932	D	0	.	7.7584	0.28938	0.0:0.0:0.0:1.0	.	386;392	E9PHQ4;Q2M3X9	.;ZN674_HUMAN	N	392;386	ENSP00000429148:K392N;ENSP00000428248:K386N	ENSP00000428248:K386N	K	-	3	2	ZNF674	46244792	0.443000	0.25641	0.432000	0.26747	0.361000	0.29550	0.844000	0.27654	1.158000	0.42547	0.381000	0.24937	AAA		0.413	ZNF674-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056357.2	NM_001039891	
SLC9A7	84679	broad.mit.edu	37	X	46472753	46472753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:46472753G>A	ENST00000328306.4	-	16	1922	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	633					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.R633*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GTCAGACATCGAGCTAGTAAG	0.507																																					p.R633X	Pancreas(118;454 1696 1930 13865 39976)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1897T	X						.						117.0	95.0	103.0					X																	46472753		2203	4300	6503	46357697	SO:0001587	stop_gained	84679	exon16			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1897C>T	X.37:g.46472753G>A	ENSP00000330320:p.Arg633*		46357697	NM_032591	O75827|Q5JXP9	Nonsense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	G	38	6.882054	0.97908	.	.	ENSG00000065923	ENST00000328306	.	.	.	4.88	4.88	0.63580	.	0.172614	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3861	0.55333	0.0:0.0:0.8323:0.1677	.	.	.	.	X	633	.	ENSP00000330320:R633X	R	-	1	2	SLC9A7	46357697	0.997000	0.39634	0.988000	0.46212	0.897000	0.52465	2.053000	0.41326	2.259000	0.74868	0.594000	0.82650	CGA		0.507	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591	
NDUFB11	54539	broad.mit.edu	37	X	47001817	47001817	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:47001817C>T	ENST00000377811.3	-	3	1185	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	NDUFB11_ENST00000276062.8_Missense_Mutation_p.E131K|RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000345781.6_5'Flank|RBM10_ENST00000377604.3_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	121					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)		p.E131K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CTCTCAGCTTCGCGGCGGGAC	0.552																																					p.E131K	Ovarian(77;454 1296 7908 21551 37072)											.	.	1	Substitution - Missense(1)	lung(1)	c.G391A	X						.						90.0	68.0	75.0					X																	47001817		2203	4300	6503	46886761	SO:0001583	missense	54539	exon3			AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.361G>A	X.37:g.47001817C>T	ENSP00000367042:p.Glu121Lys		46886761	NM_019056	Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	ENST00000377811.3	37	CCDS48100.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.107628	0.77096	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	M	0.86420	2.815	0.47778	D	0.999517	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82481	-0.0436	9	0.87932	D	0	-11.6292	10.6963	0.45901	0.0:1.0:0.0:0.0	.	121;131	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	K	121;125;131	.	ENSP00000276062:E131K	E	-	1	0	NDUFB11	46886761	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	5.199000	0.65152	2.286000	0.76751	0.523000	0.50628	GAA		0.552	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056382.1	NM_019056	
CACNA1F	778	broad.mit.edu	37	X	49084773	49084773	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:49084773G>A	ENST00000376265.2	-	7	1015	c.954C>T	c.(952-954)ttC>ttT	p.F318F	CACNA1F_ENST00000376251.1_Silent_p.F253F|CACNA1F_ENST00000323022.5_Silent_p.F318F	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	318					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.F318F(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCATGGCGAAGAAGAAGT	0.597																																					p.F318F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C954T	X	GRCh37	CD010596	CACNA1F	D		.						81.0	66.0	72.0					X																	49084773		2203	4300	6503	48971717	SO:0001819	synonymous_variant	778	exon7			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.954C>T	X.37:g.49084773G>A			48971717	NM_005183	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	CCDS35253.1																																																																																				0.597	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183	
PPP1R3F	89801	broad.mit.edu	37	X	49142350	49142350	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:49142350A>C	ENST00000055335.6	+	4	1214	c.1198A>C	c.(1198-1200)Agc>Cgc	p.S400R	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.S54R|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.S71R|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.S54R|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.S54R	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	400					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.S400R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TGTCCCCAGAAGCAGTCCACC	0.612																																					p.S400R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1198C	X						.						50.0	47.0	48.0					X																	49142350		2203	4300	6503	49029294	SO:0001583	missense	89801	exon4				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1198A>C	X.37:g.49142350A>C	ENSP00000055335:p.Ser400Arg		49029294	NM_033215	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351055	0.24512	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.58060	0.79;0.79;0.36;0.79;0.79	4.97	3.8	0.43715	.	0.220353	0.32655	N	0.005814	T	0.31482	0.0798	N	0.14661	0.345	0.27593	N	0.949206	B;B;B	0.14438	0.01;0.01;0.003	B;B;B	0.14023	0.01;0.01;0.002	T	0.15178	-1.0446	10	0.56958	D	0.05	-0.3509	5.9422	0.19199	0.8822:0.0:0.1178:0.0	.	71;85;400	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	R	54;71;400;54;54	ENSP00000420687:S54R;ENSP00000415548:S71R;ENSP00000055335:S400R;ENSP00000417535:S54R;ENSP00000365359:S54R	ENSP00000055335:S400R	S	+	1	0	PPP1R3F	49029294	1.000000	0.71417	0.997000	0.53966	0.903000	0.53119	1.679000	0.37597	1.758000	0.51981	0.430000	0.28490	AGC		0.612	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215	
CLCN5	1184	broad.mit.edu	37	X	49834628	49834628	+	Silent	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:49834628T>C	ENST00000307367.2	+	2	339	c.48T>C	c.(46-48)gaT>gaC	p.D16D	CLCN5_ENST00000376091.3_Silent_p.D86D|CLCN5_ENST00000376108.3_Silent_p.D16D|CLCN5_ENST00000376088.3_Silent_p.D86D			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	16					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.D16D(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCTATGATGATTTCAATACAA	0.453																																					p.D86D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T258C	X						.						115.0	96.0	102.0					X																	49834628		2203	4300	6503	49721368	SO:0001819	synonymous_variant	1184	exon5			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.48T>C	X.37:g.49834628T>C			49721368	NM_001127899	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	ENST00000307367.2	37	CCDS14328.1																																																																																				0.453	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
CCNB3	85417	broad.mit.edu	37	X	50053059	50053059	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:50053059G>A	ENST00000376042.1	+	6	2188	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.T630T			Q8WWL7	CCNB3_HUMAN	cyclin B3	630					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.T630T(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AATCTACAACGGAAGAAAAGT	0.448													T|||	1	0.000264901	0.0	0.0	3775	,	,		14152	0.0		0.0	False		,,,				2504	0.001				p.T630T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1890A	X						.						42.0	37.0	39.0					X																	50053059		2203	4300	6503	50069799	SO:0001819	synonymous_variant	85417	exon5			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1890G>A	X.37:g.50053059G>A			50069799	NM_033031	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	CCDS14331.1																																																																																				0.448	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
SHROOM4	57477	broad.mit.edu	37	X	50350500	50350500	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:50350500A>C	ENST00000289292.7	-	6	3925	c.3642T>G	c.(3640-3642)gaT>gaG	p.D1214E	SHROOM4_ENST00000376020.2_Missense_Mutation_p.D1214E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.D1098E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1214	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.D1214D(1)|p.D1214E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGGCAAGAAATCACTGGAAT	0.557																																					p.D1214E												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|endometrium(1)	c.T3642G	X						.						92.0	79.0	84.0					X																	50350500		2203	4300	6503	50367240	SO:0001583	missense	57477	exon6			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3642T>G	X.37:g.50350500A>C	ENSP00000289292:p.Asp1214Glu		50367240	NM_020717	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	A	0.502	-0.870300	0.02570	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.30448	1.53;1.53;1.53	4.51	0.798	0.18660	Apx/shroom, ASD2 (2);	0.929918	0.09146	N	0.842279	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B	0.30763	0.294	B	0.32624	0.149	T	0.29150	-1.0021	10	0.62326	D	0.03	.	7.6299	0.28232	0.7004:0.0:0.2996:0.0	.	1214	Q9ULL8	SHRM4_HUMAN	E	1214;1214;1098	ENSP00000289292:D1214E;ENSP00000365188:D1214E;ENSP00000421450:D1098E	ENSP00000289292:D1214E	D	-	3	2	SHROOM4	50367240	0.705000	0.27846	0.001000	0.08648	0.193000	0.23685	0.009000	0.13219	-0.209000	0.10156	-1.565000	0.00878	GAT		0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
GSPT2	23708	broad.mit.edu	37	X	51487443	51487443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:51487443G>T	ENST00000340438.4	+	1	963	c.721G>T	c.(721-723)Gaa>Taa	p.E241*		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	241	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ATATGAAAGAGAAGCTAAGGA	0.433																																					p.E241X												.	.	0			c.G721T	X						.						58.0	56.0	56.0					X																	51487443		2203	4300	6503	51504183	SO:0001587	stop_gained	23708	exon1			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.721G>T	X.37:g.51487443G>T	ENSP00000341247:p.Glu241*		51504183	NM_018094	Q9H909|Q9NVY0|Q9NY44	Nonsense_Mutation	SNP	ENST00000340438.4	37	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	G	37	6.513621	0.97629	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.5851	13.953	0.64131	0.0:0.0:1.0:0.0	.	.	.	.	X	241;158	.	ENSP00000341247:E241X	E	+	1	0	GSPT2	51504183	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.143000	0.77348	2.465000	0.83290	0.592000	0.82586	GAA		0.433	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1		
SPANXN5	494197	broad.mit.edu	37	X	52825638	52825638	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:52825638C>T	ENST00000375511.3	-	2	861	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	37								p.E37K(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AAACTCGGTTCGAGGACTAAG	0.388																																					p.E37K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G109A	X						.						166.0	142.0	150.0					X																	52825638		2203	4300	6503	52842363	SO:0001583	missense	494197	exon2				CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.109G>A	X.37:g.52825638C>T	ENSP00000364661:p.Glu37Lys		52842363	NM_001009616		Missense_Mutation	SNP	ENST00000375511.3	37	CCDS35295.1	.	.	.	.	.	.	.	.	.	.	c	0.695	-0.793171	0.02862	.	.	ENSG00000204363	ENST00000375511	T	0.06687	3.27	0.122	0.122	0.14702	.	.	.	.	.	T	0.05318	0.0141	.	.	.	0.09310	N	1	B	0.18610	0.029	B	0.17098	0.017	T	0.41822	-0.9487	7	0.32370	T	0.25	.	.	.	.	.	37	Q5MJ07	SPXN5_HUMAN	K	37	ENSP00000364661:E37K	ENSP00000364661:E37K	E	-	1	0	SPANXN5	52842363	0.015000	0.18098	0.023000	0.16930	0.023000	0.10783	0.192000	0.17096	0.180000	0.19960	0.182000	0.17080	GAA		0.388	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616	
HUWE1	10075	broad.mit.edu	37	X	53610812	53610812	+	Silent	SNP	G	G	A	rs185657233		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:53610812G>A	ENST00000342160.3	-	41	5683	c.5226C>T	c.(5224-5226)atC>atT	p.I1742I	HUWE1_ENST00000262854.6_Silent_p.I1742I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1742					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.I1605I(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGATCTCCCCGATTTTTGTTT	0.463													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14300	0.0		0.0	False		,,,				2504	0.0				p.I1742I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C5226T	X						.						68.0	63.0	65.0					X																	53610812		2203	4300	6503	53627537	SO:0001819	synonymous_variant	10075	exon42			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.5226C>T	X.37:g.53610812G>A			53627537	NM_031407	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	CCDS35301.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.265	-0.996974	0.02145	.	.	ENSG00000086758	ENST00000427052	.	.	.	5.6	-10.1	0.00402	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.24982	N	0.991598	.	.	.	.	.	.	T	0.14420	-1.0473	4	.	.	.	.	2.0556	0.03580	0.3152:0.2463:0.3174:0.121	.	.	.	.	W	776	.	.	R	-	1	2	HUWE1	53627537	0.018000	0.18449	0.238000	0.24106	0.107000	0.19398	-1.427000	0.02441	-1.571000	0.01663	-2.368000	0.00236	CGG		0.463	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
PHF8	23133	broad.mit.edu	37	X	54011660	54011660	+	Splice_Site	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:54011660G>A	ENST00000357988.5	-	18	2596	c.2238C>T	c.(2236-2238)acC>acT	p.T746T	PHF8_ENST00000338946.6_Splice_Site_p.T609T|PHF8_ENST00000338154.6_Splice_Site_p.T710T|PHF8_ENST00000322659.8_Splice_Site_p.S693S	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	746					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.T710T(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTGGGGCCTCGCTGCAAGGAA	0.542																																					p.S693S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2079T	X						.						30.0	25.0	27.0					X																	54011660		2201	4298	6499	54028385	SO:0001630	splice_region_variant	23133	exon19			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2238-1C>T	X.37:g.54011660G>A			54028385	NM_001184898	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.533|0.533	-0.856901|-0.856901	0.02630|0.02630	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282;ENST00000375189|ENST00000443302	.|.	.|.	.|.	5.74|5.74	-5.88|-5.88	0.02290|0.02290	.|.	.|.	.|.	.|.	.|.	T|.	0.64832|.	0.2634|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.65800|.	-0.6080|.	5|.	0.72032|.	D|.	0.01|.	.|.	16.3501|16.3501	0.83202|0.83202	0.7285:0.0:0.2715:0.0|0.7285:0.0:0.2715:0.0	.|.	.|.	.|.	.|.	L|X	614;186|474	.|.	ENSP00000364335:P186L|.	P|R	-|-	2|1	0|2	PHF8|PHF8	54028385|54028385	0.877000|0.877000	0.30153|0.30153	0.586000|0.586000	0.28679|0.28679	0.275000|0.275000	0.26752|0.26752	0.010000|0.010000	0.13242|0.13242	-1.892000|-1.892000	0.01108|0.01108	-2.189000|-2.189000	0.00312|0.00312	CCG|CGA		0.542	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	Silent
WNK3	65267	broad.mit.edu	37	X	54275455	54275455	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:54275455C>T	ENST00000375159.2	-	16	3325	c.3326G>A	c.(3325-3327)cGa>cAa	p.R1109Q	WNK3_ENST00000354646.2_Missense_Mutation_p.R1109Q|WNK3_ENST00000375169.3_Missense_Mutation_p.R1109Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1109					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1109Q(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AGTTTTAATTCGGTTGTCTGC	0.463																																					p.R1109Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3326A	X						.						99.0	93.0	95.0					X																	54275455		2203	4300	6503	54292180	SO:0001583	missense	65267	exon17			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3326G>A	X.37:g.54275455C>T	ENSP00000364301:p.Arg1109Gln		54292180	NM_001002838	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195585	0.78902	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72282	-0.62;-0.64;-0.64	5.19	5.19	0.71726	.	0.000000	0.48286	D	0.000188	T	0.70465	0.3227	L	0.29908	0.895	0.25622	N	0.98638	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.886	T	0.61232	-0.7104	10	0.30854	T	0.27	-9.035	7.3202	0.26523	0.0:0.8047:0.0:0.1953	.	1109;1109	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	1109	ENSP00000364312:R1109Q;ENSP00000346667:R1109Q;ENSP00000364301:R1109Q	ENSP00000346667:R1109Q	R	-	2	0	WNK3	54292180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.774000	0.47694	2.138000	0.66242	0.544000	0.68410	CGA		0.463	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922	
ITIH6	347365	broad.mit.edu	37	X	54800557	54800557	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:54800557A>G	ENST00000218436.6	-	6	889	c.860T>C	c.(859-861)gTt>gCt	p.V287A		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	287	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V287A(1)									TACGTCAATAACAAAAACCAC	0.403																																					p.V287A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T860C	X						.						73.0	56.0	62.0					X																	54800557		2203	4300	6503	54817282	SO:0001583	missense	347365	exon6			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.860T>C	X.37:g.54800557A>G	ENSP00000218436:p.Val287Ala		54817282	NM_198510	A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	a	15.10	2.734240	0.48939	.	.	ENSG00000102313	ENST00000218436	T	0.13657	2.57	4.39	4.39	0.52855	von Willebrand factor, type A (3);	0.082013	0.48286	U	0.000187	T	0.45796	0.1360	M	0.93978	3.48	0.35836	D	0.825669	D	0.55172	0.97	D	0.71656	0.974	T	0.67019	-0.5776	10	0.87932	D	0	.	12.3324	0.55048	1.0:0.0:0.0:0.0	.	287	Q6UXX5	ITH5L_HUMAN	A	287	ENSP00000218436:V287A	ENSP00000218436:V287A	V	-	2	0	ITIH5L	54817282	1.000000	0.71417	0.046000	0.18839	0.088000	0.18126	7.710000	0.84655	1.711000	0.51337	0.345000	0.21793	GTT		0.403	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
MAGED2	10916	broad.mit.edu	37	X	54838051	54838051	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:54838051G>A	ENST00000375068.1	+	6	1188	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	MAGED2_ENST00000218439.4_Missense_Mutation_p.E319K|MAGED2_ENST00000347546.4_Missense_Mutation_p.E301K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E319K|MAGED2_ENST00000396224.1_Missense_Mutation_p.E319K|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375058.1_Missense_Mutation_p.E319K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E234K|MAGED2_ENST00000375060.1_Missense_Mutation_p.E234K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	319	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)		p.E319K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TGTGTACCCCGAAATCATTGA	0.507																																					p.E319K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G955A	X						.						71.0	54.0	60.0					X																	54838051		2203	4300	6503	54854776	SO:0001583	missense	10916	exon6			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.955G>A	X.37:g.54838051G>A	ENSP00000364209:p.Glu319Lys		54854776	NM_201222	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903931	0.52333	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58;3.58	3.65	3.65	0.41850	.	0.000000	0.37393	N	0.002114	T	0.19248	0.0462	M	0.79258	2.445	0.43444	D	0.995629	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.973;0.999;0.984	T	0.00441	-1.1737	10	0.87932	D	0	.	10.608	0.45404	0.0:0.0:1.0:0.0	.	301;234;319	Q9UNF1-2;Q5H907;Q9UNF1	.;.;MAGD2_HUMAN	K	319;319;263;301;234;319;319;234;319	ENSP00000364209:E319K;ENSP00000364193:E319K;ENSP00000336962:E263K;ENSP00000340290:E301K;ENSP00000364202:E234K;ENSP00000218439:E319K;ENSP00000364198:E319K;ENSP00000364200:E234K;ENSP00000379526:E319K	ENSP00000218439:E319K	E	+	1	0	MAGED2	54854776	1.000000	0.71417	0.992000	0.48379	0.128000	0.20619	5.314000	0.65804	1.764000	0.52075	0.513000	0.50165	GAA		0.507	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599	
TRO	7216	broad.mit.edu	37	X	54954151	54954151	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:54954151C>A	ENST00000173898.7	+	11	1927	c.1815C>A	c.(1813-1815)ttC>ttA	p.F605L	TRO_ENST00000399736.1_Missense_Mutation_p.F208L|TRO_ENST00000420798.2_Missense_Mutation_p.F136L|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000319167.8_Missense_Mutation_p.F605L|TRO_ENST00000375041.2_Missense_Mutation_p.F208L|TRO_ENST00000375022.4_Missense_Mutation_p.F605L	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	605	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.F605L(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AATATGAGTTCTTCTGGGGCT	0.493																																					p.F605L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1815A	X						.						60.0	58.0	59.0					X																	54954151		2199	4298	6497	54970876	SO:0001583	missense	7216	exon11			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1815C>A	X.37:g.54954151C>A	ENSP00000173898:p.Phe605Leu		54970876	NM_016157	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084970	0.55861	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41	3.1	2.23	0.28157	.	.	.	.	.	T	0.22322	0.0538	M	0.82193	2.58	0.42436	D	0.992692	D;P;D;D	0.76494	0.997;0.844;0.999;0.997	D;P;D;D	0.85130	0.983;0.651;0.997;0.983	T	0.00749	-1.1582	9	0.72032	D	0.01	.	7.029	0.24956	0.0:0.8559:0.0:0.1441	.	208;208;605;605	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	L	605;605;605;208;208;136;208	ENSP00000173898:F605L;ENSP00000318278:F605L;ENSP00000364162:F605L;ENSP00000382641:F208L;ENSP00000405126:F136L;ENSP00000364181:F208L	ENSP00000173898:F605L	F	+	3	2	TRO	54970876	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.342000	0.19926	0.686000	0.31488	0.513000	0.50165	TTC		0.493	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	
FOXR2	139628	broad.mit.edu	37	X	55650173	55650173	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:55650173T>G	ENST00000339140.3	+	1	341	c.29T>G	c.(28-30)tTt>tGt	p.F10C		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	10					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F10C(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GACTGTGAATTTTGGTATAGT	0.453																																					p.F10C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T29G	X						.						69.0	66.0	67.0					X																	55650173		2203	4300	6503	55666898	SO:0001583	missense	139628	exon1			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.29T>G	X.37:g.55650173T>G	ENSP00000427329:p.Phe10Cys		55666898	NM_198451		Missense_Mutation	SNP	ENST00000339140.3	37	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502963	0.26949	.	.	ENSG00000189299	ENST00000339140	D	0.94497	-3.44	4.2	4.2	0.49525	.	.	.	.	.	D	0.95554	0.8555	L	0.59436	1.845	0.31775	N	0.631649	D	0.89917	1.0	D	0.67231	0.95	D	0.94074	0.7338	9	0.62326	D	0.03	.	8.8091	0.34956	0.0:0.0:0.0:1.0	.	10	Q6PJQ5	FOXR2_HUMAN	C	10	ENSP00000427329:F10C	ENSP00000427329:F10C	F	+	2	0	FOXR2	55666898	0.076000	0.21285	0.474000	0.27266	0.023000	0.10783	0.943000	0.29030	1.677000	0.50941	0.486000	0.48141	TTT		0.453	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451	
UBQLN2	29978	broad.mit.edu	37	X	56591458	56591458	+	Silent	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:56591458G>A	ENST00000338222.5	+	1	1433	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	384					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Q384Q(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCTGATTCAGAATATGCTGT	0.517																																					p.Q384Q	Esophageal Squamous(104;218 1492 6022 10838 28884)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1152A	X						.						38.0	33.0	35.0					X																	56591458		2203	4300	6503	56608183	SO:0001819	synonymous_variant	29978	exon1			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1152G>A	X.37:g.56591458G>A			56608183	NM_013444	O94798|Q5D027|Q9H3W6|Q9HAZ4	Silent	SNP	ENST00000338222.5	37	CCDS14374.1																																																																																				0.517	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444	
HEPH	9843	broad.mit.edu	37	X	65408345	65408345	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:65408345A>C	ENST00000343002.2	+	4	1434	c.770A>C	c.(769-771)aAa>aCa	p.K257T	HEPH_ENST00000519389.1_Missense_Mutation_p.K311T|HEPH_ENST00000374727.3_Missense_Mutation_p.K260T|HEPH_ENST00000441993.2_Missense_Mutation_p.K260T|HEPH_ENST00000419594.1_Missense_Mutation_p.K260T|HEPH_ENST00000336279.5_5'UTR			Q9BQS7	HEPH_HUMAN	hephaestin	257	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.K257T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCAGTGGACAAAGAAGATGAG	0.478																																					p.K260T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A779C	X						.						153.0	107.0	123.0					X																	65408345		2203	4300	6503	65325070	SO:0001583	missense	9843	exon5			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.770A>C	X.37:g.65408345A>C	ENSP00000343939:p.Lys257Thr		65325070	NM_001130860	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37		.	.	.	.	.	.	.	.	.	.	A	12.57	1.978557	0.34942	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99769	-6.7;-6.7;-6.7;-6.7;-6.7;-6.7	4.78	0.866	0.19079	Cupredoxin (2);	0.581550	0.18710	N	0.133339	D	0.98848	0.9611	M	0.77103	2.36	0.24747	N	0.993008	B;B;B	0.26602	0.154;0.037;0.028	B;B;B	0.25405	0.06;0.035;0.053	D	0.99907	1.1184	10	0.27785	T	0.31	.	3.1984	0.06641	0.53:0.0:0.1755:0.2945	.	311;260;257	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	T	311;260;260;260;257;257	ENSP00000430620:K311T;ENSP00000363859:K260T;ENSP00000411687:K260T;ENSP00000413211:K260T;ENSP00000343939:K257T;ENSP00000398078:K257T	ENSP00000343939:K257T	K	+	2	0	HEPH	65325070	0.175000	0.23083	0.998000	0.56505	0.865000	0.49528	0.463000	0.21972	0.077000	0.16863	0.481000	0.45027	AAA		0.478	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737	
EDA2R	60401	broad.mit.edu	37	X	65835785	65835785	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:65835785C>T	ENST00000374719.3	-	2	134	c.78G>A	c.(76-78)gaG>gaA	p.E26E	EDA2R_ENST00000253392.5_Silent_p.E26E|EDA2R_ENST00000451436.2_Missense_Mutation_p.S21N|EDA2R_ENST00000450752.1_Silent_p.E26E|EDA2R_ENST00000456230.2_Silent_p.E26E|EDA2R_ENST00000396050.1_Silent_p.E26E	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	26					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.E26E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTGGATAGCTCCTGTCCAG	0.512																																					p.E26E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G78A	X						.						140.0	105.0	116.0					X																	65835785		2203	4300	6503	65752510	SO:0001819	synonymous_variant	60401	exon2			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.78G>A	X.37:g.65835785C>T			65752510	NM_001199687	Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	ENST00000374719.3	37	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606483	0.28623	.	.	ENSG00000131080	ENST00000451436	.	.	.	4.56	0.765	0.18470	.	.	.	.	.	T	0.30479	0.0766	.	.	.	0.24055	N	0.996038	B	0.12630	0.006	B	0.14578	0.011	T	0.28267	-1.0049	7	0.87932	D	0	.	6.177	0.20449	0.0:0.5219:0.0:0.4781	.	21	E7EUS4	.	N	21	.	ENSP00000415242:S21N	S	-	2	0	EDA2R	65752510	0.993000	0.37304	0.998000	0.56505	0.990000	0.78478	-0.102000	0.10956	-0.048000	0.13401	0.600000	0.82982	AGC		0.512	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783	
AWAT2	158835	broad.mit.edu	37	X	69269719	69269719	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:69269719A>G	ENST00000276101.3	-	1	69	c.64T>C	c.(64-66)Tcc>Ccc	p.S22P		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	22					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)	p.S22P(1)		endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GCACTGAAGGACCACTGGAAA	0.522																																					p.S22P	NSCLC(80;1334 1436 9350 24214 26427)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T64C	X						.						142.0	98.0	113.0					X																	69269719		2203	4300	6503	69186444	SO:0001583	missense	158835	exon1			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.64T>C	X.37:g.69269719A>G	ENSP00000421172:p.Ser22Pro		69186444	NM_001002254	Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	A	4.974	0.180888	0.09443	.	.	ENSG00000147160	ENST00000276101	T	0.11821	2.74	4.0	-2.56	0.06268	.	1.118330	0.06778	N	0.784716	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.36578	-0.9742	10	0.38643	T	0.18	.	1.1141	0.01711	0.1525:0.31:0.1451:0.3924	.	22	Q6E213	AWAT2_HUMAN	P	22	ENSP00000421172:S22P	ENSP00000421172:S22P	S	-	1	0	AWAT2	69186444	0.001000	0.12720	0.005000	0.12908	0.001000	0.01503	-0.753000	0.04792	-0.970000	0.03569	-1.942000	0.00496	TCC		0.522	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254	
P2RY4	5030	broad.mit.edu	37	X	69479140	69479140	+	Missense_Mutation	SNP	C	C	T	rs375834423		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:69479140C>T	ENST00000374519.2	-	1	514	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	112					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.R112H(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GAAAAGAAAGCGGACGAACTT	0.542																																					p.R112H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G335A	X						.						77.0	65.0	69.0					X																	69479140		2203	4300	6503	69395865	SO:0001583	missense	5030	exon1			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.335G>A	X.37:g.69479140C>T	ENSP00000363643:p.Arg112His		69395865	NM_002565	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	ENST00000374519.2	37	CCDS14398.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940061	0.73557	.	.	ENSG00000186912	ENST00000374519	T	0.37058	1.22	4.2	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.54334	0.1852	M	0.67569	2.06	0.52099	D	0.999947	D	0.89917	1.0	D	0.91635	0.999	T	0.53429	-0.8440	10	0.49607	T	0.09	.	10.5087	0.44849	0.0:0.9019:0.0:0.0981	.	112	P51582	P2RY4_HUMAN	H	112	ENSP00000363643:R112H	ENSP00000363643:R112H	R	-	2	0	P2RY4	69395865	1.000000	0.71417	0.796000	0.32109	0.928000	0.56348	4.610000	0.61155	0.918000	0.36919	0.517000	0.50305	CGC		0.542	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565	
KIF4A	24137	broad.mit.edu	37	X	69623881	69623881	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:69623881G>T	ENST00000374403.3	+	24	2869	c.2787G>T	c.(2785-2787)gaG>gaT	p.E929D	KIF4A_ENST00000374388.3_Missense_Mutation_p.E929D	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	929	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E929D(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AGCACCAAGAGAAGGTAAACT	0.383																																					p.E929D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2787T	X						.						76.0	66.0	69.0					X																	69623881		2203	4300	6503	69540606	SO:0001583	missense	24137	exon24			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2787G>T	X.37:g.69623881G>T	ENSP00000363524:p.Glu929Asp		69540606	NM_012310	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579420	0.46006	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.71579	-0.5;-0.58	4.73	-0.214	0.13161	.	0.118788	0.37304	N	0.002158	T	0.66268	0.2772	L	0.51422	1.61	0.54753	D	0.999987	D	0.53745	0.962	P	0.49451	0.611	T	0.61907	-0.6966	9	.	.	.	.	9.632	0.39785	0.5468:0.0:0.4532:0.0	.	929	O95239	KIF4A_HUMAN	D	929;929;231	ENSP00000363509:E929D;ENSP00000363524:E929D	.	E	+	3	2	KIF4A	69540606	1.000000	0.71417	0.994000	0.49952	0.587000	0.36485	0.607000	0.24209	-0.130000	0.11599	-0.931000	0.02705	GAG		0.383	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
GDPD2	54857	broad.mit.edu	37	X	69652907	69652907	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:69652907A>G	ENST00000374382.3	+	16	1842	c.1591A>G	c.(1591-1593)Aca>Gca	p.T531A	GDPD2_ENST00000538649.1_Missense_Mutation_p.T452A|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.T582A|GDPD2_ENST00000536730.1_Missense_Mutation_p.T452A	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	531					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)	p.T531A(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					AGTGCTGCTGACAAGGATCAA	0.532											OREG0019852	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T452A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1354G	X						.						80.0	59.0	66.0					X																	69652907		2203	4300	6503	69569632	SO:0001583	missense	54857	exon15			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1591A>G	X.37:g.69652907A>G	ENSP00000363503:p.Thr531Ala	1116	69569632	NM_001171193	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.375668	0.24857	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	4.87	4.87	0.63330	.	0.196337	0.33691	N	0.004646	T	0.53077	0.1774	L	0.29908	0.895	0.37069	D	0.898429	D;D	0.63880	0.993;0.993	D;D	0.72625	0.978;0.978	T	0.57359	-0.7825	9	.	.	.	-7.0402	10.9104	0.47106	1.0:0.0:0.0:0.0	.	582;531	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	A	582;452;452;531	ENSP00000414019:T582A;ENSP00000445982:T452A;ENSP00000444601:T452A;ENSP00000363503:T531A	.	T	+	1	0	GDPD2	69569632	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	4.850000	0.62889	1.803000	0.52742	0.441000	0.28932	ACA		0.532	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711	
DLG3	1741	broad.mit.edu	37	X	69712393	69712393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:69712393C>T	ENST00000374360.3	+	12	1953	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	DLG3_ENST00000194900.4_Nonsense_Mutation_p.R592*|DLG3_ENST00000374355.3_Nonsense_Mutation_p.R237*|DLG3_ENST00000542398.1_Nonsense_Mutation_p.R91*	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	574					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.R574*(2)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AGAAAGAGCTCGATTGAAAAC	0.488																																					p.R574X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1720T	X						.						68.0	61.0	63.0					X																	69712393		2203	4300	6503	69629118	SO:0001587	stop_gained	1741	exon12			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.1720C>T	X.37:g.69712393C>T	ENSP00000363480:p.Arg574*		69629118	NM_021120	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Nonsense_Mutation	SNP	ENST00000374360.3	37	CCDS14403.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403825	0.96051	.	.	ENSG00000082458	ENST00000194900;ENST00000374360;ENST00000374355;ENST00000542398	.	.	.	5.09	4.23	0.50019	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8911	0.52630	0.0:0.9147:0.0:0.0853	.	.	.	.	X	592;574;237;91	.	.	R	+	1	2	DLG3	69629118	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.456000	0.44997	1.146000	0.42352	0.600000	0.82982	CGA		0.488	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120	
TEX11	56159	broad.mit.edu	37	X	70093094	70093094	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:70093094T>G	ENST00000395889.2	-	5	423	c.268A>C	c.(268-270)Aat>Cat	p.N90H	TEX11_ENST00000344304.3_Missense_Mutation_p.N90H|TEX11_ENST00000374333.2_Missense_Mutation_p.N75H	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	90					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)		p.N75H(1)		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)					TGCTCTTCATTTACAAGCCAA	0.343																																					p.N90H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A268C	X						.						217.0	175.0	189.0					X																	70093094		2203	4300	6503	70009819	SO:0001583	missense	56159	exon5			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.268A>C	X.37:g.70093094T>G	ENSP00000379226:p.Asn90His		70009819	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180472	0.38511	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.31510	1.49;1.5;1.5	4.37	3.12	0.35913	.	0.848915	0.10449	N	0.673326	T	0.30572	0.0769	L	0.34521	1.04	0.09310	N	1	D;P	0.54207	0.965;0.875	P;B	0.51135	0.66;0.36	T	0.08638	-1.0712	9	.	.	.	0.0033	7.1223	0.25453	0.0:0.0:0.225:0.775	.	75;90	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	H	75;90;90	ENSP00000363453:N75H;ENSP00000379226:N90H;ENSP00000340995:N90H	.	N	-	1	0	TEX11	70009819	0.394000	0.25246	0.003000	0.11579	0.009000	0.06853	2.211000	0.42825	1.626000	0.50381	0.437000	0.28790	AAT		0.343	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
SLC7A3	84889	broad.mit.edu	37	X	70147187	70147187	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:70147187A>G	ENST00000374299.3	-	8	1375	c.1231T>C	c.(1231-1233)Tca>Cca	p.S411P	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S411P			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	411					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.S411P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTCCCAATTGACATGAGGTCC	0.423																																					p.S411P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1231C	X						.						141.0	114.0	123.0					X																	70147187		2203	4300	6503	70063912	SO:0001583	missense	84889	exon8			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1231T>C	X.37:g.70147187A>G	ENSP00000363417:p.Ser411Pro		70063912	NM_032803	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124600	0.77436	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.91295	-2.82;-2.82	5.14	5.14	0.70334	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96430	0.8835	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97318	0.9942	10	0.87932	D	0	.	13.1819	0.59660	1.0:0.0:0.0:0.0	.	411	Q8WY07	CTR3_HUMAN	P	411	ENSP00000363417:S411P;ENSP00000298085:S411P	ENSP00000298085:S411P	S	-	1	0	SLC7A3	70063912	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.984000	0.93482	1.906000	0.55180	0.430000	0.28490	TCA		0.423	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	
SLC7A3	84889	broad.mit.edu	37	X	70147722	70147722	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:70147722C>A	ENST00000374299.3	-	6	1113	c.969G>T	c.(967-969)gaG>gaT	p.E323D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E323D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	323					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.E323D(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAGAAATGCCTCAGGCAAAG	0.493																																					p.E323D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G969T	X						.						77.0	62.0	67.0					X																	70147722		2202	4299	6501	70064447	SO:0001583	missense	84889	exon6			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.969G>T	X.37:g.70147722C>A	ENSP00000363417:p.Glu323Asp		70064447	NM_032803	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482564	0.44147	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.89875	-2.58;-2.58	5.15	0.238	0.15480	Amino acid permease domain (1);	0.195310	0.53938	D	0.000052	T	0.75451	0.3851	L	0.28458	0.855	0.43913	D	0.99655	B	0.09022	0.002	B	0.17979	0.02	T	0.54629	-0.8265	10	0.15952	T	0.53	.	1.3586	0.02187	0.1404:0.3966:0.1345:0.3285	.	323	Q8WY07	CTR3_HUMAN	D	323	ENSP00000363417:E323D;ENSP00000298085:E323D	ENSP00000298085:E323D	E	-	3	2	SLC7A3	70064447	0.987000	0.35691	0.879000	0.34478	0.985000	0.73830	0.323000	0.19593	-0.293000	0.08986	0.468000	0.43344	GAG		0.493	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	
SLC7A3	84889	broad.mit.edu	37	X	70147797	70147797	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:70147797C>T	ENST00000374299.3	-	6	1038	c.894G>A	c.(892-894)gcG>gcA	p.A298A	SLC7A3_ENST00000298085.4_Silent_p.A298A			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	298					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)	p.A298A(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGCAAAATACGCCAAAAAGC	0.507																																					p.A298A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G894A	X						.						164.0	130.0	141.0					X																	70147797		2203	4300	6503	70064522	SO:0001819	synonymous_variant	84889	exon6			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.894G>A	X.37:g.70147797C>T			70064522	NM_032803	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	CCDS14404.1																																																																																				0.507	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	
ZMYM3	9203	broad.mit.edu	37	X	70463818	70463818	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:70463818C>T	ENST00000353904.2	-	21	3480	c.3293G>A	c.(3292-3294)cGt>cAt	p.R1098H	ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1100H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1093H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R1086H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1098H	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1098					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCTTTGATACGCATGGGTTT	0.473																																					p.R1086H												.	.	0			c.G3257A	X						.						144.0	97.0	113.0					X																	70463818		2203	4300	6503	70380543	SO:0001583	missense	9203	exon21			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3293G>A	X.37:g.70463818C>T	ENSP00000343909:p.Arg1098His		70380543	NM_001171162	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	17.70	3.453237	0.63290	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.47528	1.42;0.84;1.42;1.38;1.42	5.04	5.04	0.67666	.	0.081933	0.49916	D	0.000124	T	0.39937	0.1097	L	0.29908	0.895	0.34838	D	0.740344	P;P	0.47962	0.878;0.903	B;B	0.41236	0.351;0.347	T	0.55768	-0.8089	10	0.48119	T	0.1	-9.5507	17.5932	0.88003	0.0:1.0:0.0:0.0	.	1086;1098	Q14202-2;Q14202	.;ZMYM3_HUMAN	H	1098;1086;1098;1093;1100	ENSP00000322845:R1098H;ENSP00000363110:R1086H;ENSP00000343909:R1098H;ENSP00000363096:R1093H;ENSP00000363100:R1100H	ENSP00000322845:R1098H	R	-	2	0	ZMYM3	70380543	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.552000	0.53705	2.339000	0.79563	0.529000	0.55759	CGT		0.473	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
TAF1	6872	broad.mit.edu	37	X	70608156	70608156	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:70608156A>C	ENST00000373790.4	+	16	2545	c.2494A>C	c.(2494-2496)Aaa>Caa	p.K832Q	TAF1_ENST00000423759.1_Missense_Mutation_p.K853Q|TAF1_ENST00000449580.1_Missense_Mutation_p.K832Q|TAF1_ENST00000276072.3_Missense_Mutation_p.K853Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	832	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.K832Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGATATAAAAAAAGCCTTTCC	0.428																																					p.K832Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2494C	X						.						67.0	67.0	67.0					X																	70608156		2203	4297	6500	70524881	SO:0001583	missense	6872	exon16				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2494A>C	X.37:g.70608156A>C	ENSP00000362895:p.Lys832Gln		70524881	NM_138923	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.210021	0.79240	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.64	4.64	0.57946	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	M	0.79805	2.47	0.58432	D	0.999992	P;P;P	0.42908	0.544;0.793;0.754	B;P;P	0.51582	0.316;0.627;0.674	T	0.12604	-1.0541	10	0.41790	T	0.15	.	13.4836	0.61353	1.0:0.0:0.0:0.0	.	832;832;853	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	Q	832;832;853;853	ENSP00000362895:K832Q;ENSP00000389000:K832Q;ENSP00000406549:K853Q;ENSP00000276072:K853Q	ENSP00000276072:K853Q	K	+	1	0	TAF1	70524881	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.962000	0.93254	1.625000	0.50366	0.350000	0.21858	AAA		0.428	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
TAF1	6872	broad.mit.edu	37	X	70618466	70618466	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:70618466G>A	ENST00000373790.4	+	24	3713	c.3662G>A	c.(3661-3663)cGa>cAa	p.R1221Q	TAF1_ENST00000423759.1_Missense_Mutation_p.R1242Q|TAF1_ENST00000449580.1_Missense_Mutation_p.R1221Q|TAF1_ENST00000276072.3_Missense_Mutation_p.R1242Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1221					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R1221Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAAGAGATGCGAAAAGAACGG	0.458																																					p.R1221Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3662A	X						.						89.0	76.0	80.0					X																	70618466		2203	4300	6503	70535191	SO:0001583	missense	6872	exon24				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3662G>A	X.37:g.70618466G>A	ENSP00000362895:p.Arg1221Gln		70535191	NM_138923	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	24.2|24.2	4.499550|4.499550	0.85176|0.85176	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000483985|ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.|T;T;T;T	.|0.17528	.|2.27;2.27;2.27;2.27	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.63046	.|0.992;0.977;0.982	.|P;P;P	.|0.56648	.|0.803;0.543;0.625	T|T	0.01432|0.01432	-1.1356|-1.1356	5|10	.|0.62326	.|D	.|0.03	.|.	18.5393|18.5393	0.91022|0.91022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1221;1221;1242	.|P21675-4;P21675;P21675-2	.|.;TAF1_HUMAN;.	K|Q	132|1221;1221;1242;1242	.|ENSP00000362895:R1221Q;ENSP00000389000:R1221Q;ENSP00000406549:R1242Q;ENSP00000276072:R1242Q	.|ENSP00000276072:R1242Q	E|R	+|+	1|2	0|0	TAF1|TAF1	70535191|70535191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.473000|9.473000	0.97714|0.97714	2.321000|2.321000	0.78463|0.78463	0.468000|0.468000	0.43344|0.43344	GAA|CGA		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
Unknown	0	broad.mit.edu	37	X	71379912	71379912	+	IGR	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:71379912T>C								BX119917.1 (7648 upstream) : PIN4 (21613 downstream)														p.V78A(1)									GTCGATAGTGTCATGAATCAT	0.433																																					p.V78A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T233C	X						.						96.0	80.0	86.0					X																	71379912		2203	4300	6503	71296637	SO:0001628	intergenic_variant	392490	exon2																															X.37:g.71379912T>C			71296637	NM_207422		Missense_Mutation	SNP		37																																																																																				0	0.433								
KIAA2022	340533	broad.mit.edu	37	X	73960875	73960875	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:73960875A>G	ENST00000055682.6	-	3	4128	c.3517T>C	c.(3517-3519)Tca>Cca	p.S1173P		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1173					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.S1173P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGATTTTGACACTTTGTTG	0.393																																					p.S1173P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3517C	X						.						89.0	83.0	85.0					X																	73960875		2203	4300	6503	73877600	SO:0001583	missense	340533	exon3				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3517T>C	X.37:g.73960875A>G	ENSP00000055682:p.Ser1173Pro		73877600	NM_001008537	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	a	14.55	2.568230	0.45798	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.29397	1.57;1.57	5.27	4.11	0.48088	.	0.537051	0.18247	N	0.147070	T	0.25232	0.0613	L	0.29908	0.895	0.37248	D	0.906438	P	0.40875	0.731	B	0.41088	0.347	T	0.11916	-1.0568	10	0.72032	D	0.01	-0.5199	10.1216	0.42623	0.9203:0.0:0.0797:0.0	.	1173	Q5QGS0	K2022_HUMAN	P	1173	ENSP00000362567:S1173P;ENSP00000055682:S1173P	ENSP00000055682:S1173P	S	-	1	0	KIAA2022	73877600	1.000000	0.71417	0.592000	0.28758	0.845000	0.48019	2.672000	0.46850	0.666000	0.31087	0.483000	0.47432	TCA		0.393	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
ABCB7	22	broad.mit.edu	37	X	74290312	74290312	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:74290312A>C	ENST00000373394.3	-	10	1260	c.1253T>G	c.(1252-1254)tTt>tGt	p.F418C	ABCB7_ENST00000339447.4_Missense_Mutation_p.F378C|ABCB7_ENST00000253577.3_Missense_Mutation_p.F419C|ABCB7_ENST00000534570.1_5'UTR			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	418	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)	p.F419C(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGAAAGCTGAAAAAGCAGTCC	0.368																																					p.F419C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1256G	X						.						128.0	122.0	124.0					X																	74290312		2203	4299	6502	74207037	SO:0001583	missense	22	exon10			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1253T>G	X.37:g.74290312A>C	ENSP00000362492:p.Phe418Cys		74207037	NM_004299	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	A	21.2	4.106926	0.77096	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	5.55	5.55	0.83447	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	H	0.95187	3.635	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;1.0	D;D;D;D;D	0.91635	0.973;0.999;0.998;0.976;0.997	D	0.97075	0.9780	10	0.87932	D	0	-21.3974	13.8228	0.63333	1.0:0.0:0.0:0.0	.	392;378;419;418;419	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	C	392;419;378;418;392	ENSP00000253577:F419C;ENSP00000343849:F378C;ENSP00000362492:F418C;ENSP00000436586:F392C	ENSP00000253577:F419C	F	-	2	0	ABCB7	74207037	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	1.861000	0.53984	0.486000	0.48141	TTT		0.368	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	
CYSLTR1	10800	broad.mit.edu	37	X	77528356	77528356	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:77528356G>T	ENST00000373304.3	-	3	1180	c.888C>A	c.(886-888)ttC>ttA	p.F296L		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	296					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)	p.F296L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CCCCAGAAAAGAAATATAGGA	0.433																																					p.F296L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C888A	X						.						52.0	52.0	52.0					X																	77528356		2202	4300	6502	77415012	SO:0001583	missense	10800	exon3			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.888C>A	X.37:g.77528356G>T	ENSP00000362401:p.Phe296Leu		77415012	NM_006639	B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	ENST00000373304.3	37	CCDS14439.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002065	0.35320	.	.	ENSG00000173198	ENST00000373304	T	0.22134	1.97	3.89	3.89	0.44902	.	0.052878	0.85682	D	0.000000	T	0.10252	0.0251	N	0.08118	0	0.39767	D	0.972109	B	0.32467	0.372	B	0.29267	0.1	T	0.26087	-1.0113	10	0.25751	T	0.34	.	12.4121	0.55473	0.0:0.0:1.0:0.0	.	296	Q9Y271	CLTR1_HUMAN	L	296	ENSP00000362401:F296L	ENSP00000362401:F296L	F	-	3	2	CYSLTR1	77415012	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.233000	0.65337	1.770000	0.52166	0.468000	0.43344	TTC		0.433	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1		
LPAR4	2846	broad.mit.edu	37	X	78010800	78010800	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:78010800G>A	ENST00000435339.3	+	2	820	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	145					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.R145Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCTTTTCGATCTCGTACT	0.463																																					p.R145Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G434A	X						.						216.0	147.0	170.0					X																	78010800		2203	4300	6503	77897456	SO:0001583	missense	2846	exon2			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.434G>A	X.37:g.78010800G>A	ENSP00000408205:p.Arg145Gln		77897456	NM_005296	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725257	0.68959	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.40756	1.02;1.02	4.21	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.074980	0.56097	N	0.000035	T	0.42630	0.1211	L	0.41906	1.305	0.45354	D	0.998343	D	0.56746	0.977	P	0.52066	0.689	T	0.27157	-1.0082	10	0.52906	T	0.07	.	9.927	0.41498	0.1045:0.0:0.8955:0.0	.	145	Q99677	LPAR4_HUMAN	Q	145	ENSP00000408205:R145Q;ENSP00000362398:R145Q	ENSP00000362398:R145Q	R	+	2	0	LPAR4	77897456	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	5.028000	0.64115	0.790000	0.33803	0.422000	0.28245	CGA		0.463	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296	
LPAR4	2846	broad.mit.edu	37	X	78011052	78011052	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:78011052G>A	ENST00000435339.3	+	2	1072	c.686G>A	c.(685-687)aGa>aAa	p.R229K		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	229					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.R229K(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GTGGTGCTGAGAACTCTTCGC	0.373																																					p.R229K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G686A	X						.						80.0	67.0	72.0					X																	78011052		2203	4299	6502	77897708	SO:0001583	missense	2846	exon2			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.686G>A	X.37:g.78011052G>A	ENSP00000408205:p.Arg229Lys		77897708	NM_005296	B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	G	3.267	-0.149993	0.06585	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.38401	1.14;1.14	4.2	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.128430	0.50627	N	0.000115	T	0.27629	0.0679	L	0.28014	0.82	0.34270	D	0.680967	B	0.32302	0.363	P	0.44772	0.46	T	0.32955	-0.9887	10	0.10377	T	0.69	.	5.9839	0.19423	0.1103:0.0:0.7021:0.1876	.	229	Q99677	LPAR4_HUMAN	K	229	ENSP00000408205:R229K;ENSP00000362398:R229K	ENSP00000362398:R229K	R	+	2	0	LPAR4	77897708	1.000000	0.71417	0.982000	0.44146	0.732000	0.41865	3.493000	0.53266	0.218000	0.20820	0.415000	0.27848	AGA		0.373	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296	
P2RY10	27334	broad.mit.edu	37	X	78216809	78216809	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:78216809T>G	ENST00000171757.2	+	4	1072	c.792T>G	c.(790-792)atT>atG	p.I264M	P2RY10_ENST00000544091.1_Missense_Mutation_p.I264M	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.I264M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTAACTTTATTTTTTACACCA	0.453																																					p.I264M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T792G	X						.						148.0	139.0	142.0					X																	78216809		2203	4300	6503	78103465	SO:0001583	missense	27334	exon2			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.792T>G	X.37:g.78216809T>G	ENSP00000171757:p.Ile264Met		78103465	NM_198333	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.063257	0.36373	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.40756	1.02;1.02	4.8	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	1.696990	0.03491	N	0.216553	T	0.43897	0.1268	L	0.41710	1.295	0.35729	D	0.81776	P	0.41673	0.759	P	0.48488	0.579	T	0.39881	-0.9592	10	0.41790	T	0.15	.	2.5487	0.04743	0.2074:0.1869:0.0:0.6057	.	264	O00398	P2Y10_HUMAN	M	264	ENSP00000443138:I264M;ENSP00000171757:I264M	ENSP00000171757:I264M	I	+	3	3	P2RY10	78103465	0.065000	0.20965	0.998000	0.56505	0.865000	0.49528	-0.519000	0.06260	0.661000	0.30985	0.483000	0.47432	ATT		0.453	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
TBX22	50945	broad.mit.edu	37	X	79286362	79286362	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:79286362T>C	ENST00000373294.5	+	8	1343	c.1315T>C	c.(1315-1317)Tct>Cct	p.S439P	TBX22_ENST00000373296.3_Missense_Mutation_p.S439P|TBX22_ENST00000373291.1_Missense_Mutation_p.S319P|TBX22_ENST00000442340.1_Missense_Mutation_p.S319P	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	439					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S439P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGCACCTAATTCTACCAATCA	0.418																																					p.S439P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1315C	X						.						132.0	124.0	126.0					X																	79286362		2203	4300	6503	79173018	SO:0001583	missense	50945	exon9			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1315T>C	X.37:g.79286362T>C	ENSP00000362390:p.Ser439Pro		79173018	NM_001109878	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	T	0.298	-0.975589	0.02215	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	4.12	1.71	0.24356	.	118.715000	0.00166	N	0.000000	T	0.74191	0.3684	L	0.48362	1.52	0.09310	N	0.999997	B	0.19200	0.034	B	0.16722	0.016	T	0.52049	-0.8627	10	0.35671	T	0.21	.	3.1278	0.06413	0.1882:0.2432:0.0:0.5685	.	439	Q9Y458	TBX22_HUMAN	P	439;319;439;319	ENSP00000362393:S439P;ENSP00000396394:S319P;ENSP00000362390:S439P;ENSP00000362388:S319P	ENSP00000362388:S319P	S	+	1	0	TBX22	79173018	0.996000	0.38824	0.137000	0.22149	0.002000	0.02628	1.028000	0.30128	0.484000	0.27630	-0.438000	0.05819	TCT		0.418	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
HDX	139324	broad.mit.edu	37	X	83724417	83724417	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:83724417A>G	ENST00000297977.5	-	3	425	c.314T>C	c.(313-315)gTc>gCc	p.V105A	HDX_ENST00000506585.2_Missense_Mutation_p.V47A|HDX_ENST00000373177.2_Missense_Mutation_p.V105A	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	105						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V105A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTTACAATGACATCATTATT	0.413																																					p.V105A	Pancreas(53;231 1169 36156 43751 51139)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T314C	X						.						173.0	147.0	156.0					X																	83724417		2203	4300	6503	83611073	SO:0001583	missense	139324	exon4			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.314T>C	X.37:g.83724417A>G	ENSP00000297977:p.Val105Ala		83611073	NM_001177479	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.495817	0.44352	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.57752	1.8;1.17;1.8;0.38	4.75	3.56	0.40772	.	0.138072	0.48286	D	0.000189	T	0.66046	0.2750	M	0.63843	1.955	0.35056	D	0.761119	D	0.64830	0.994	D	0.70716	0.97	T	0.74535	-0.3633	10	0.72032	D	0.01	-17.1837	10.2391	0.43301	0.8495:0.0:0.0:0.1505	.	105	Q7Z353	HDX_HUMAN	A	105;47;105;47	ENSP00000297977:V105A;ENSP00000362272:V47A;ENSP00000423670:V105A;ENSP00000387790:V47A	ENSP00000297977:V105A	V	-	2	0	HDX	83611073	1.000000	0.71417	0.999000	0.59377	0.713000	0.41058	4.250000	0.58772	0.725000	0.32318	0.417000	0.27973	GTC		0.413	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
POF1B	79983	broad.mit.edu	37	X	84561224	84561224	+	Missense_Mutation	SNP	C	C	T	rs200080276		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:84561224C>T	ENST00000262753.4	-	12	1425	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	POF1B_ENST00000373145.3_Missense_Mutation_p.R427H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	427						tight junction (GO:0005923)		p.R427H(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTCTAAATTACGTTTACAATA	0.323																																					p.R427H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1280A	X						.						134.0	120.0	125.0					X																	84561224		2203	4299	6502	84447880	SO:0001583	missense	79983	exon12			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1280G>A	X.37:g.84561224C>T	ENSP00000262753:p.Arg427His		84447880	NM_024921	A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	c	10.92	1.486866	0.26686	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	D;D	0.86230	-2.09;-2.09	6.07	-0.0339	0.13898	.	0.730830	0.13968	N	0.350408	T	0.81074	0.4747	L	0.48642	1.525	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.66360	-0.5943	10	0.46703	T	0.11	.	9.4821	0.38906	0.0:0.5068:0.0:0.4932	.	427;427	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	H	427	ENSP00000262753:R427H;ENSP00000362238:R427H	ENSP00000262753:R427H	R	-	2	0	POF1B	84447880	0.095000	0.21747	0.041000	0.18516	0.129000	0.20672	0.147000	0.16202	-0.517000	0.06461	-0.196000	0.12772	CGT		0.323	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921	
KLHL4	56062	broad.mit.edu	37	X	86919877	86919877	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:86919877G>A	ENST00000373119.4	+	10	2184	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G680E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	680						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G680E(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGATATGACGGACATACTTAT	0.403																																					p.G680E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2039A	X						.						169.0	116.0	134.0					X																	86919877		2203	4300	6503	86806533	SO:0001583	missense	56062	exon10			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.2039G>A	X.37:g.86919877G>A	ENSP00000362211:p.Gly680Glu		86806533	NM_057162	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299861	0.81136	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.69685	-0.42;-0.38	4.06	4.06	0.47325	Galactose oxidase, beta-propeller (1);	0.106561	0.64402	D	0.000005	T	0.82121	0.4968	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85544	0.1217	10	0.87932	D	0	.	14.2896	0.66268	0.0:0.0:1.0:0.0	.	680;680	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	E	680	ENSP00000362211:G680E;ENSP00000362206:G680E	ENSP00000362206:G680E	G	+	2	0	KLHL4	86806533	1.000000	0.71417	0.986000	0.45419	0.903000	0.53119	8.351000	0.90072	2.000000	0.58554	0.415000	0.27848	GGA		0.403	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
PCDH11X	27328	broad.mit.edu	37	X	91456392	91456392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:91456392C>T	ENST00000373094.1	+	3	3897	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	PCDH11X_ENST00000504220.2_Nonsense_Mutation_p.R1018*|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R1018*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R1018*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R1018*|PCDH11X_ENST00000373088.1_Intron	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1018			R -> Q (in dbSNP:rs4252205).		homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1018*(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGAGGTTGTGCGATCTTGCAC	0.398																																					p.R1018X	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C3052T	X						.						84.0	74.0	77.0					X																	91456392		2203	4300	6503	91343048	SO:0001587	stop_gained	27328	exon3			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3052C>T	X.37:g.91456392C>T	ENSP00000362186:p.Arg1018*		91343048	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Nonsense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.264023	0.80358	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934	.	.	.	4.18	-6.23	0.02052	.	0.372941	0.19414	U	0.114870	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9714	0.41757	0.7199:0.1664:0.1137:0.0	.	.	.	.	X	1018	.	ENSP00000349408:R1018X	R	+	1	2	PCDH11X	91343048	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.837000	0.04377	-0.980000	0.03524	-0.341000	0.08007	CGA		0.398	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
PCDH11X	27328	broad.mit.edu	37	X	91873589	91873589	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:91873589C>A	ENST00000373094.1	+	7	4539	c.3694C>A	c.(3694-3696)Cac>Aac	p.H1232N	PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1195N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1214N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1222N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1224N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1195N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1232					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H1232N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACTGCACTTCACCACAGCCC	0.587																																					p.H1232N	NSCLC(38;925 1092 2571 38200 45895)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3694A	X						.						178.0	149.0	159.0					X																	91873589		2203	4300	6503	91760245	SO:0001583	missense	27328	exon7			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3694C>A	X.37:g.91873589C>A	ENSP00000362186:p.His1232Asn		91760245	NM_032968	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	5.267	0.234730	0.09969	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.49720	0.78;0.79;0.79;0.77;0.79;0.79	3.78	-2.68	0.06041	.	.	.	.	.	T	0.25865	0.0630	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.11235	0.004;0.004;0.004;0.004;0.003	B;B;B;B;B	0.13407	0.005;0.009;0.009;0.009;0.004	T	0.16928	-1.0386	9	0.31617	T	0.26	.	7.3189	0.26515	0.0:0.181:0.1453:0.6737	.	1195;1214;1224;1222;1232	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1232;1222;1195;1214;1224;1232;1195	ENSP00000362186:H1232N;ENSP00000362189:H1222N;ENSP00000362180:H1195N;ENSP00000355105:H1214N;ENSP00000384758:H1224N;ENSP00000298274:H1195N	ENSP00000298274:H1195N	H	+	1	0	PCDH11X	91760245	0.000000	0.05858	0.000000	0.03702	0.558000	0.35554	-4.166000	0.00282	-0.726000	0.04895	-0.412000	0.06146	CAC		0.587	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
NAP1L3	4675	broad.mit.edu	37	X	92927282	92927282	+	Missense_Mutation	SNP	G	G	A	rs139021145	byFrequency	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:92927282G>A	ENST00000373079.3	-	1	1285	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.S334L	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	341					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.S341*(1)|p.S341L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCTAACATCCGACAAGAACTT	0.428													G|||	3	0.000794702	0.0015	0.0014	3775	,	,		11769	0.0		0.0	False		,,,				2504	0.0				p.S341L												.	.	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|lung(1)	c.C1022T	X						.	G	LEU/SER	9,3826		0,7,2,1625,569	53.0	48.0	50.0		1022	1.8	0.7	X	dbSNP_134	50	0,6728		0,0,0,2428,1872	yes	missense	NAP1L3	NM_004538.5	145	0,7,2,4053,2441	AA,AG,A,GG,G		0.0,0.2347,0.0852	probably-damaging	341/507	92927282	9,10554	2203	4300	6503	92813938	SO:0001583	missense	4675	exon1				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1022C>T	X.37:g.92927282G>A	ENSP00000362171:p.Ser341Leu		92813938	NM_004538	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679076	0.29783	0.002347	0.0	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.26518	1.73	3.68	1.78	0.24846	.	0.174139	0.49916	D	0.000123	T	0.30166	0.0756	L	0.35341	1.055	0.25928	N	0.983022	D	0.71674	0.998	P	0.60415	0.874	T	0.06716	-1.0811	10	0.44086	T	0.13	.	8.7512	0.34616	0.0:0.0:0.401:0.599	.	341	Q99457	NP1L3_HUMAN	L	341;334	ENSP00000362171:S341L	ENSP00000362171:S341L	S	-	2	0	NAP1L3	92813938	1.000000	0.71417	0.703000	0.30354	0.932000	0.56968	3.422000	0.52749	0.328000	0.23435	0.529000	0.55759	TCG		0.428	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538	
NAP1L3	4675	broad.mit.edu	37	X	92928019	92928019	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:92928019A>C	ENST00000373079.3	-	1	548	c.285T>G	c.(283-285)aaT>aaG	p.N95K	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.N88K	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	95					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.N95K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TATCCACGAAATTTGTTCCCA	0.527																																					p.N95K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T285G	X						.						21.0	22.0	22.0					X																	92928019		2200	4282	6482	92814675	SO:0001583	missense	4675	exon1				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.285T>G	X.37:g.92928019A>C	ENSP00000362171:p.Asn95Lys		92814675	NM_004538	B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	A	1.648	-0.514802	0.04200	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.42131	0.98	3.65	1.09	0.20402	.	0.479802	0.23775	N	0.044683	T	0.17874	0.0429	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10823	-1.0613	10	0.49607	T	0.09	.	2.7256	0.05213	0.4645:0.0:0.1184:0.4171	.	95	Q99457	NP1L3_HUMAN	K	95;88	ENSP00000362171:N95K	ENSP00000362171:N95K	N	-	3	2	NAP1L3	92814675	0.279000	0.24239	0.000000	0.03702	0.007000	0.05969	1.871000	0.39539	0.111000	0.17947	0.430000	0.28490	AAT		0.527	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538	
RPA4	29935	broad.mit.edu	37	X	96139865	96139865	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:96139865G>A	ENST00000373040.3	+	1	959	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000355827.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	186					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.E186K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GTCTCCATCAGAAGTGAATGA	0.488								Other identified genes with known or suspected DNA repair function																													p.E186K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G556A	X						.						153.0	116.0	129.0					X																	96139865		2203	4300	6503	96026521	SO:0001583	missense	29935	exon1			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.556G>A	X.37:g.96139865G>A	ENSP00000362131:p.Glu186Lys		96026521	NM_013347	Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	4.925	0.171791	0.09391	.	.	ENSG00000204086	ENST00000373040	T	0.44083	0.93	2.89	-2.75	0.05914	Replication protein A, C-terminal (1);	.	.	.	.	T	0.12603	0.0306	N	0.02011	-0.69	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.15407	-1.0438	9	0.27082	T	0.32	-10.3589	0.6322	0.00796	0.3909:0.1709:0.263:0.1751	.	186	Q13156	RFA4_HUMAN	K	186	ENSP00000362131:E186K	ENSP00000362131:E186K	E	+	1	0	RPA4	96026521	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.594000	0.05733	-0.944000	0.03686	-0.360000	0.07572	GAA		0.488	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347	
DIAPH2	1730	broad.mit.edu	37	X	96192338	96192338	+	Missense_Mutation	SNP	G	G	A	rs41300144		TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:96192338G>A	ENST00000324765.8	+	11	1543	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	DIAPH2_ENST00000373049.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R395Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R399Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	399	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R399Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATGACATTCGAGCAGAAATG	0.338													G|||	1	0.000264901	0.0	0.0	3775	,	,		13913	0.0		0.001	False		,,,				2504	0.0				p.R399Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1196A	X						.	G	GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	70.0	57.0	62.0		1196,1196	4.5	1.0	X	dbSNP_127	62	1,6727		0,1,2427,1872	no	missense,missense	DIAPH2	NM_006729.4,NM_007309.3	43,43	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	399/1102,399/1097	96192338	1,10562	2203	4300	6503	96078994	SO:0001583	missense	1730	exon11			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1196G>A	X.37:g.96192338G>A	ENSP00000321348:p.Arg399Gln		96078994	NM_006729	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.18	2.756264	0.49362	0.0	1.49E-4	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	4.48	4.48	0.54585	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000017	D	0.86636	0.5980	L	0.48174	1.505	0.39104	D	0.961347	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.75484	0.986;0.876;0.924	D	0.88000	0.2755	10	0.72032	D	0.01	.	10.172	0.42915	0.1601:0.0:0.8399:0.0	rs41300144	399;399;406	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	Q	399;395;399;399;399;406	ENSP00000362152:R399Q;ENSP00000362145:R395Q;ENSP00000348082:R399Q;ENSP00000362140:R399Q;ENSP00000321348:R399Q	ENSP00000321348:R399Q	R	+	2	0	DIAPH2	96078994	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.051000	0.64257	1.957000	0.56846	0.284000	0.19432	CGA		0.338	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
TSPAN6	7105	broad.mit.edu	37	X	99890690	99890690	+	Silent	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:99890690C>T	ENST00000373020.4	-	2	252	c.141G>A	c.(139-141)gaG>gaA	p.E47E	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	47					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.E47E(1)		endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						AAAAGTAATTCTCCAGGCTCA	0.448																																					p.E47E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G141A	X						.						52.0	41.0	45.0					X																	99890690		2201	4295	6496	99777346	SO:0001819	synonymous_variant	7105	exon2			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.141G>A	X.37:g.99890690C>T			99777346	NM_003270	Q54A42|Q6IAN9	Silent	SNP	ENST00000373020.4	37	CCDS14470.1																																																																																				0.448	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057483.1		
VAMP7	6845	broad.mit.edu	37	X	155119263	155119263	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrX:155119263A>G	ENST00000286448.6	+	2	299	c.134A>G	c.(133-135)tAc>tGc	p.Y45C	VAMP7_ENST00000262640.6_Missense_Mutation_p.Y45C|VAMP7_ENST00000460621.1_Intron|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	45	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)		p.Y45C(1)		large_intestine(1)|lung(8)	9	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)					AAACTAACGTACTCACATGGC	0.423																																					p.Y45C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A134G	X						.						216.0	202.0	207.0					X																	155119263		2203	4296	6499	154772457	SO:0001583	missense	6845	exon2			AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.134A>G	X.37:g.155119263A>G	ENSP00000286448:p.Tyr45Cys		154772457	NM_005638	Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	A	15.49	2.847831	0.51164	.	.	ENSG00000124333	ENST00000286448;ENST00000262640	T;T	0.27104	1.69;1.69	2.83	2.83	0.33086	Longin (2);Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	.	.	.	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.14117	-1.0484	9	0.87932	D	0	.	8.6299	0.33913	1.0:0.0:0.0:0.0	.	45;45	P51809-2;P51809	.;VAMP7_HUMAN	C	45	ENSP00000286448:Y45C;ENSP00000262640:Y45C	ENSP00000262640:Y45C	Y	+	2	0	VAMP7	154772457	1.000000	0.71417	0.966000	0.40874	0.861000	0.49209	9.136000	0.94489	1.381000	0.46364	0.238000	0.17879	TAC		0.423	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638	
USP9Y	8287	broad.mit.edu	37	Y	14952971	14952971	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrY:14952971A>G	ENST00000338981.3	+	37	7069	c.6124A>G	c.(6124-6126)Act>Gct	p.T2042A	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2042					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.T2042A(1)		kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGAAGAAATTACTATGATTAG	0.333																																					p.T2042A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A6124G	Y						.						57.0	57.0	57.0					Y																	14952971		593	1943	2536	13462365	SO:0001583	missense	8287	exon37			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.6124A>G	Y.37:g.14952971A>G	ENSP00000342812:p.Thr2042Ala		13462365	NM_004654	O14601	Missense_Mutation	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																				0.333	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654	
ZFY	7544	broad.mit.edu	37	Y	2829685	2829685	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrY:2829685C>T	ENST00000155093.3	+	3	953	c.632C>T	c.(631-633)tCg>tTg	p.S211L	ZFY_ENST00000383052.1_Missense_Mutation_p.S211L|ZFY_ENST00000449237.1_Missense_Mutation_p.S185L|ZFY_ENST00000431102.1_Intron	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S211L(1)		biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						CTAATGATTTCGTGTAAGTCA	0.398																																					p.S211L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C632T	Y						.						50.0	39.0	41.0					Y																	2829685		600	1949	2549	2889685	SO:0001583	missense	7544	exon3			L10393	CCDS14774.1, CCDS48200.1, CCDS48201.1	Yp11.3	2013-01-08			ENSG00000067646	ENSG00000067646		"""Zinc fingers, C2H2-type"""	12870	protein-coding gene	gene with protein product		490000				2497060	Standard	NM_001145275		Approved	ZNF911	uc004fqj.3	P08048	OTTHUMG00000036159	ENST00000155093.3:c.632C>T	Y.37:g.2829685C>T	ENSP00000155093:p.Ser211Leu		2889685	NM_003411	B4DVF7|Q14021|Q15558|Q1RME9|Q24JR0|Q96TF3	Missense_Mutation	SNP	ENST00000155093.3	37	CCDS14774.1																																																																																				0.398	ZFY-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088063.1	NM_003411	
UTY	7404	broad.mit.edu	37	Y	15582094	15582094	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Illumina			Illumina HiSeq	TCGA-AA-A00N-01A-02W-A00E-09	TCGA-AA-A00N-10A-01W-A00E-09	g.chrY:15582094C>T	ENST00000331397.4	-	3	1239	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	UTY_ENST00000382896.4_Missense_Mutation_p.E78K|UTY_ENST00000538878.1_Missense_Mutation_p.E78K|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000382893.1_Missense_Mutation_p.E78K|UTY_ENST00000540140.1_Missense_Mutation_p.E78K|UTY_ENST00000362096.4_Missense_Mutation_p.E78K|UTY_ENST00000537580.1_Missense_Mutation_p.E78K|UTY_ENST00000329134.5_Missense_Mutation_p.E78K|UTY_ENST00000545955.1_Missense_Mutation_p.E78K	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	78					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)	p.E78K(1)		kidney(1)|lung(6)	7						ATTAAAGATTCGTAGCAGCGA	0.343																																					p.E78K	Colon(103;1740 2135 40732 45171)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G232A	Y						.						48.0	51.0	50.0					Y																	15582094		587	1921	2508	14091488	SO:0001583	missense	7404	exon3			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.232G>A	Y.37:g.15582094C>T	ENSP00000328939:p.Glu78Lys		14091488	NM_007125	A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	37	CCDS14783.1																																																																																				0.343	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660	
